| NM_000071.2(CBS):c.1451A>T (p.Tyr484Phe) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000557667] |
Chr21:43058161 [GRCh38]
Chr21:44478271 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1341C>T (p.Pro447=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000542840] |
Chr21:43058851 [GRCh38]
Chr21:44478961 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1205T>C (p.Leu402Pro) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000555545] |
Chr21:43059244 [GRCh38]
Chr21:44479354 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.919G>A (p.Gly307Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618753]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000138]|Homocystinuria [RCV000366433]|Homocystinuria due to CBS deficiency [RCV000173641]|Homocystinuria, pyridoxine-nonresponsive [RCV000000137]|not provided [RCV000078112] |
Chr21:43062988 [GRCh38]
Chr21:44483098 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.434C>T (p.Pro145Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000625555]|Homocystinuria, pyridoxine-responsive [RCV000000139] |
Chr21:43066260 [GRCh38]
Chr21:44486370 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.341C>T (p.Ala114Val) |
single nucleotide variant |
Homocystinuria [RCV000590659]|Homocystinuria due to CBS deficiency [RCV000490533]|Homocystinuria, pyridoxine-responsive [RCV000000140]|not provided [RCV000200823] |
Chr21:43066353 [GRCh38]
Chr21:44486463 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.833T>C (p.Ile278Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249462]|HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000142]|Homocystinuria [RCV000379069]|Homocystinuria [RCV000781197]|Homocystinuria due to CBS deficiency [RCV000173640]|Homocystinuria, pyridoxine-responsive [RCV000000141]|Thoracic aortic aneurysm and aortic dissection [RCV000249462]|not provided [RCV000078111]|not specified [RCV000507410] |
Chr21:43063074 [GRCh38]
Chr21:44483184 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.415G>A (p.Gly139Arg) |
single nucleotide variant |
Homocystinuria, pyridoxine-responsive [RCV000000143] |
Chr21:43066279 [GRCh38]
Chr21:44486389 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.430G>A (p.Glu144Lys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169074]|Homocystinuria, pyridoxine-responsive [RCV000000144]|not provided [RCV000723427] |
Chr21:43066264 [GRCh38]
Chr21:44486374 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.1150A>G (p.Lys384Glu) |
single nucleotide variant |
Homocystinuria, pyridoxine-responsive [RCV000000145] |
Chr21:43059299 [GRCh38]
Chr21:44479409 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1616T>C (p.Leu539Ser) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000675072]|Homocystinuria, pyridoxine-responsive [RCV000000146] |
Chr21:43053920 [GRCh38]
Chr21:44474030 [GRCh37]
Chr21:21q22.3 |
pathogenic|uncertain significance |
| NM_000071.2(CBS):c.797G>A (p.Arg266Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621987]|Homocystinuria due to CBS deficiency [RCV000469164]|Homocystinuria, pyridoxine-responsive [RCV000000147] |
Chr21:43063931 [GRCh38]
Chr21:44484041 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000149]|Homocystinuria [RCV000781196]|Homocystinuria due to CBS deficiency [RCV000174656]|Homocystinuria, pyridoxine-responsive [RCV000000148]|not provided [RCV000078108] |
Chr21:43058862 [GRCh38]
Chr21:44478972 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.502G>A (p.Val168Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000250042]|Homocystinuria due to CBS deficiency [RCV000458159]|Homocystinuria, pyridoxine-responsive [RCV000000150]|Thoracic aortic aneurysm and aortic dissection [RCV000250042]|not provided [RCV000179250]|not specified [RCV000259164] |
Chr21:43065645 [GRCh38]
Chr21:44485755 [GRCh37]
Chr21:21q22.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.1224-2A>C |
single nucleotide variant |
Homocystinuria [RCV000590542]|Homocystinuria due to CBS deficiency [RCV000174658]|Homocystinuria, pyridoxine-responsive [RCV000000151]|not provided [RCV000198380] |
Chr21:43058970 [GRCh38]
Chr21:44479080 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000152]|Homocystinuria due to CBS deficiency [RCV000675050]|not specified [RCV000522394] |
Chr21:43058927 [GRCh38]
Chr21:44479037 [GRCh37]
Chr21:21q22.3 |
pathogenic|uncertain significance |
| NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) |
single nucleotide variant |
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV000000153]|Homocystinuria due to CBS deficiency [RCV000675119] |
Chr21:43058215 [GRCh38]
Chr21:44478325 [GRCh37]
Chr21:21q22.3 |
pathogenic|uncertain significance |
| NM_000071.2(CBS):c.1058C>T (p.Thr353Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249963]|Homocystinuria due to CBS deficiency [RCV000169466]|Homocystinuria, pyridoxine-nonresponsive [RCV000000154]|Thoracic aortic aneurysm and aortic dissection [RCV000249963]|not provided [RCV000078106] |
Chr21:43060528 [GRCh38]
Chr21:44480638 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.572C>T (p.Thr191Met) |
single nucleotide variant |
Homocystinuria [RCV000589097]|Homocystinuria due to CBS deficiency [RCV000576767]|Homocystinuria, pyridoxine-nonresponsive [RCV000000155]|not provided [RCV000195441] |
Chr21:43065481 [GRCh38]
Chr21:44485591 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| CBS, 68-BP INS |
insertion |
CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM [RCV000000156] |
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.737-1G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000544919] |
Chr21:43063992 [GRCh38]
Chr21:44484102 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.887C>T (p.Thr296Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000558244] |
Chr21:43063020 [GRCh38]
Chr21:44483130 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.369C>A (p.Ser123Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000550221] |
Chr21:43066325 [GRCh38]
Chr21:44486435 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 |
copy number loss |
Encephalopathy [RCV000050746]|See cases [RCV000050746] |
Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|Autism [RCV000050446]|Nonsyndromic microcephaly [RCV000050447]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|See cases [RCV000050445] |
Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 |
copy number loss |
Global developmental delay [RCV000051022]|See cases [RCV000051022] |
Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] |
Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] |
Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 |
copy number loss |
Global developmental delay [RCV000052839]|See cases [RCV000052839] |
Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|See cases [RCV000053042] |
Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|See cases [RCV000053043] |
Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 |
copy number gain |
Cleft upper lip [RCV000053045]|Abnormality of the heart [RCV000053046]|See cases [RCV000053045] |
Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
Abnormal facial shape [RCV000053065]|See cases [RCV000053065] |
Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|See cases [RCV000053067] |
Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|See cases [RCV000053068] |
Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|See cases [RCV000053069] |
Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|See cases [RCV000053039] |
Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 |
copy number gain |
Global developmental delay [RCV000053040]|Abnormal facial shape [RCV000053041]|See cases [RCV000053040] |
Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1141T>A (p.Tyr381Asn) |
single nucleotide variant |
Malignant melanoma [RCV000072856] |
Chr21:43060445 [GRCh38]
Chr21:44480555 [GRCh37]
Chr21:43353624 [NCBI36]
Chr21:21q22.3 |
not provided |
| NM_000071.2(CBS):c.1060G>A (p.Val354Met) |
single nucleotide variant |
Malignant melanoma [RCV000072857] |
Chr21:43060526 [GRCh38]
Chr21:44480636 [GRCh37]
Chr21:43353705 [NCBI36]
Chr21:21q22.3 |
not provided |
| NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169310]|not provided [RCV000078105] |
Chr21:43062344 [GRCh38]
Chr21:44482454 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1080C>T (p.Ala360=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000078107]|Cardiovascular phenotype [RCV000244095]|Homocystinuria [RCV000313339]|Homocystinuria due to CBS deficiency [RCV000611179]|Thoracic aortic aneurysm and aortic dissection [RCV000244095]|not provided [RCV000124155]|not provided [RCV000755482]|not specified [RCV000078107] |
Chr21:43060506 [GRCh38]
Chr21:44480616 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.435G>A (p.Pro145=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000553511]|not specified [RCV000078109] |
Chr21:43066259 [GRCh38]
Chr21:44486369 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.699C>T (p.Tyr233=) |
single nucleotide variant |
AllHighlyPenetrant [RCV000078110]|Cardiovascular phenotype [RCV000247442]|Homocystinuria [RCV000377779]|Homocystinuria due to CBS deficiency [RCV000600783]|Thoracic aortic aneurysm and aortic dissection [RCV000247442]|not provided [RCV000124149]|not provided [RCV000757058]|not specified [RCV000078110] |
Chr21:43065240 [GRCh38]
Chr21:44485350 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.531+11G>A |
single nucleotide variant |
Homocystinuria [RCV000350914]|Homocystinuria due to CBS deficiency [RCV000625490]|not specified [RCV000124146] |
Chr21:43065605 [GRCh38]
Chr21:44485715 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|uncertain significance |
| NM_000071.2(CBS):c.573G>A (p.Thr191=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254493]|Homocystinuria due to CBS deficiency [RCV000227079]|Thoracic aortic aneurysm and aortic dissection [RCV000254493]|not provided [RCV000124147]|not provided [RCV000755228]|not specified [RCV000179709] |
Chr21:43065480 [GRCh38]
Chr21:44485590 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_000071.2(CBS):c.636C>T (p.Asn212=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254497]|Homocystinuria [RCV000281054]|Homocystinuria due to CBS deficiency [RCV000540728]|Thoracic aortic aneurysm and aortic dissection [RCV000254497]|not specified [RCV000124148] |
Chr21:43065417 [GRCh38]
Chr21:44485527 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.829-14C>T |
single nucleotide variant |
not specified [RCV000124150] |
Chr21:43063092 [GRCh38]
Chr21:44483202 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.829-13G>A |
single nucleotide variant |
Homocystinuria [RCV000287047]|not specified [RCV000124151] |
Chr21:43063091 [GRCh38]
Chr21:44483201 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.829-12C>T |
single nucleotide variant |
Homocystinuria [RCV000326905]|not specified [RCV000124152] |
Chr21:43063090 [GRCh38]
Chr21:44483200 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.954+8G>A |
single nucleotide variant |
Homocystinuria [RCV000368055]|Homocystinuria due to CBS deficiency [RCV000536701]|not provided [RCV000124153]|not specified [RCV000173642] |
Chr21:43062945 [GRCh38]
Chr21:44483055 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.1039+19C>T |
single nucleotide variant |
not specified [RCV000124154] |
Chr21:43062292 [GRCh38]
Chr21:44482402 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1145+7C>T |
single nucleotide variant |
Homocystinuria [RCV000276932]|Homocystinuria due to CBS deficiency [RCV000206277]|not provided [RCV000124156]|not specified [RCV000174216] |
Chr21:43060434 [GRCh38]
Chr21:44480544 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_000071.2:c.+10C>A |
single nucleotide variant |
not provided [RCV000124157] |
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.*18G>A |
single nucleotide variant |
not specified [RCV000124158] |
Chr21:43053862 [GRCh38]
Chr21:44473972 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.304A>C (p.Lys102Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621680]|Homocystinuria [RCV000394063]|Homocystinuria due to CBS deficiency [RCV000233317]|not provided [RCV000124159]|not provided [RCV000224394]|not specified [RCV000178036] |
Chr21:43068521 [GRCh38]
Chr21:44488631 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_000071.2(CBS):c.1218del (p.Lys406fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000174443]|not provided [RCV000724407] |
Chr21:43059231 [GRCh38]
Chr21:44479341 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.1257G>A (p.Leu419=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000544341]|not specified [RCV000174657] |
Chr21:43058935 [GRCh38]
Chr21:44479045 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.1224-2A>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000174658] |
Chr21:43058970 [GRCh38]
Chr21:44479080 [GRCh37] |
pathogenic |
| NM_000071.2(CBS):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000178709]|not provided [RCV000723426] |
Chr21:43066320 [GRCh38]
Chr21:44486430 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.785C>T (p.Thr262Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000180461]|not provided [RCV000200469] |
Chr21:43063943 [GRCh38]
Chr21:44484053 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.992C>T (p.Ala331Val) |
single nucleotide variant |
not specified [RCV000173977] |
Chr21:43062358 [GRCh38]
Chr21:44482468 [GRCh37]
Chr21:21q22.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.1005C>T (p.Ala335=) |
single nucleotide variant |
not specified [RCV000173978] |
Chr21:43062345 [GRCh38]
Chr21:44482455 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1072G>A (p.Val358Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000474043]|not provided [RCV000174217]|not provided [RCV000420634]|not specified [RCV000199585] |
Chr21:43060514 [GRCh38]
Chr21:44480624 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.845_846insGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTGGAACC (p.Glu283_Gly284insLysGlyProSerSerGlnSerArgArgSerTer) |
insertion |
not specified [RCV000152935] |
Chr21:43063061..43063062 [GRCh38]
Chr21:44483171..44483172 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 |
copy number loss |
See cases [RCV000133675] |
Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 |
copy number gain |
See cases [RCV000134727] |
Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 |
copy number gain |
See cases [RCV000134509] |
Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134119] |
Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000135310] |
Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 |
copy number gain |
See cases [RCV000134972] |
Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| NM_000071.2(CBS):c.1526C>T (p.Ala509Val) |
single nucleotide variant |
not specified [RCV000174986] |
Chr21:43056829 [GRCh38]
Chr21:44476939 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1527C>T (p.Ala509=) |
single nucleotide variant |
not specified [RCV000174987] |
Chr21:43056828 [GRCh38]
Chr21:44476938 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 |
copy number gain |
See cases [RCV000134836] |
Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 |
copy number gain |
See cases [RCV000134842] |
Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 |
copy number gain |
See cases [RCV000135448] |
Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| NM_000071.2(CBS):c.*10C>A |
single nucleotide variant |
Homocystinuria [RCV000343292]|not specified [RCV000175120] |
Chr21:43053870 [GRCh38]
Chr21:44473980 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 |
copy number gain |
See cases [RCV000136142] |
Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 |
copy number loss |
See cases [RCV000136828] |
Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137255] |
Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000137337] |
Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 |
copy number loss |
See cases [RCV000137341] |
Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138216] |
Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 |
copy number loss |
See cases [RCV000138096] |
Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3 |
pathogenic |
| GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 |
copy number gain |
See cases [RCV000138164] |
Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 |
copy number gain |
See cases [RCV000138436] |
Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 |
copy number loss |
See cases [RCV000139158] |
Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 |
copy number gain |
See cases [RCV000140103] |
Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 |
copy number gain |
See cases [RCV000141346] |
Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000141827] |
Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3 |
uncertain significance |
| GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 |
copy number loss |
See cases [RCV000142311] |
Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 |
copy number loss |
See cases [RCV000142427] |
Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143120] |
Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 |
copy number loss |
See cases [RCV000142650] |
Chr21:39375937..44246148 [GRCh38]
Chr21:40747863..45666031 [GRCh37]
Chr21:39669733..44490459 [NCBI36]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1 |
copy number loss |
See cases [RCV000142600] |
Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 |
copy number gain |
See cases [RCV000143376] |
Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) |
copy number gain |
See cases [RCV000143160] |
Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 |
copy number loss |
See cases [RCV000143335] |
Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3 |
pathogenic |
| GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 |
copy number gain |
See cases [RCV000148131] |
Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1566del (p.Lys523fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000169113] |
Chr21:43053970 [GRCh38]
Chr21:44474080 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.346G>A (p.Gly116Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169116] |
Chr21:43066348 [GRCh38]
Chr21:44486458 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) |
single nucleotide variant |
Homocystinuria [RCV000780082]|Homocystinuria due to CBS deficiency [RCV000169132]|not provided [RCV000197584] |
Chr21:43062311 [GRCh38]
Chr21:44482421 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.1136G>A (p.Arg379Gln) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169171]|not provided [RCV000480748] |
Chr21:43060450 [GRCh38]
Chr21:44480560 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.689del (p.Leu230fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000169175]|not provided [RCV000198642] |
Chr21:43065250 [GRCh38]
Chr21:44485360 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.667-14_667-7del |
deletion |
Homocystinuria [RCV000780083]|Homocystinuria due to CBS deficiency [RCV000169271]|not provided [RCV000274429] |
Chr21:43065279..43065286 [GRCh38]
Chr21:44485389..44485396 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.770C>T (p.Thr257Met) |
single nucleotide variant |
Homocystinuria [RCV000780084]|Homocystinuria due to CBS deficiency [RCV000169294]|Hyperhomocysteinemia [RCV000790997]|not provided [RCV000197988] |
Chr21:43063958 [GRCh38]
Chr21:44484068 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.362G>A (p.Arg121His) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169322]|not provided [RCV000199075] |
Chr21:43066332 [GRCh38]
Chr21:44486442 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.233C>G (p.Pro78Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169367]|not provided [RCV000199435] |
Chr21:43068592 [GRCh38]
Chr21:44488702 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.306G>C (p.Lys102Asn) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169368]|not provided [RCV000199277] |
Chr21:43068519 [GRCh38]
Chr21:44488629 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1358+1G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169487] |
Chr21:43058833 [GRCh38]
Chr21:44478943 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169494]|not provided [RCV000587586] |
Chr21:43058876 [GRCh38]
Chr21:44478986 [GRCh37]
Chr21:21q22.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.302T>C (p.Leu101Pro) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000169617] |
Chr21:43068523 [GRCh38]
Chr21:44488633 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) |
deletion |
Homocystinuria due to CBS deficiency [RCV000675172]|not provided [RCV000413538]|not specified [RCV000179710] |
Chr21:43065500..43065517 [GRCh38]
Chr21:44485610..44485627 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not specified [RCV000176975] |
Chr21:43072192 [GRCh38]
Chr21:44492302 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.362G>T (p.Arg121Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000190373] |
Chr21:43066332 [GRCh38]
Chr21:44486442 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|not provided |
| NM_000071.2(CBS):c.1632C>T (p.Ala544=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618376]|not specified [RCV000200199] |
Chr21:43053904 [GRCh38]
Chr21:44474014 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_000071.2(CBS):c.5C>T (p.Pro2Leu) |
single nucleotide variant |
not specified [RCV000200313] |
Chr21:43072189 [GRCh38]
Chr21:44492299 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000764258]|not specified [RCV000200328] |
Chr21:43058201 [GRCh38]
Chr21:44478311 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253434]|Homocystinuria due to CBS deficiency [RCV000227198]|Thoracic aortic aneurysm and aortic dissection [RCV000253434]|not specified [RCV000200383] |
Chr21:43053893 [GRCh38]
Chr21:44474003 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.1479G>A (p.Thr493=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000244998]|Homocystinuria due to CBS deficiency [RCV000471233]|Thoracic aortic aneurysm and aortic dissection [RCV000244998]|not specified [RCV000196475] |
Chr21:43056876 [GRCh38]
Chr21:44476986 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|uncertain significance |
| NM_000071.2(CBS):c.400G>A (p.Gly134Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000469139]|not specified [RCV000196511] |
Chr21:43066294 [GRCh38]
Chr21:44486404 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.*27C>T |
single nucleotide variant |
not specified [RCV000196581] |
Chr21:43053853 [GRCh38]
Chr21:44473963 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1359-30C>T |
single nucleotide variant |
not specified [RCV000196643] |
Chr21:43058283 [GRCh38]
Chr21:44478393 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.736+2T>G |
single nucleotide variant |
not provided [RCV000196686] |
Chr21:43065201 [GRCh38]
Chr21:44485311 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.146C>T (p.Pro49Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242293]|Homocystinuria due to CBS deficiency [RCV000410155]|Thoracic aortic aneurysm and aortic dissection [RCV000242293]|not provided [RCV000200523] |
Chr21:43072048 [GRCh38]
Chr21:44492158 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.667-13_667-10delTCTT |
deletion |
not specified [RCV000200531] |
Chr21:43065282..43065285 [GRCh38]
Chr21:44485392..44485395 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1273G>A (p.Val425Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620815]|Homocystinuria due to CBS deficiency [RCV000554628]|not provided [RCV000200590]|not specified [RCV000592999] |
Chr21:43058919 [GRCh38]
Chr21:44479029 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC |
insertion |
not specified [RCV000200688] |
Chr21:43063062..43063063 [GRCh38]
Chr21:44483172..44483173 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|benign |
| NM_000071.2(CBS):c.361C>T (p.Arg121Cys) |
single nucleotide variant |
Homocystinuria [RCV000311440]|Homocystinuria due to CBS deficiency [RCV000475484]|not provided [RCV000196859] |
Chr21:43066333 [GRCh38]
Chr21:44486443 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.969G>A (p.Trp323Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000363392]|not provided [RCV000197013] |
Chr21:43062381 [GRCh38]
Chr21:44482491 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.34C>T (p.Pro12Ser) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000704996]|not specified [RCV000197083] |
Chr21:43072160 [GRCh38]
Chr21:44492270 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.162G>A (p.Trp54Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000409663]|not provided [RCV000197261] |
Chr21:43072032 [GRCh38]
Chr21:44492142 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.675C>T (p.Asn225=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618636]|Homocystinuria due to CBS deficiency [RCV000530012]|not specified [RCV000197290] |
Chr21:43065264 [GRCh38]
Chr21:44485374 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) |
single nucleotide variant |
not provided [RCV000197292]|not specified [RCV000584030] |
Chr21:43058912 [GRCh38]
Chr21:44479022 [GRCh37]
Chr21:21q22.3 |
pathogenic|uncertain significance |
| NM_000071.2(CBS):c.939G>A (p.Thr313=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249948]|Homocystinuria due to CBS deficiency [RCV000473575]|Thoracic aortic aneurysm and aortic dissection [RCV000249948]|not specified [RCV000197407] |
Chr21:43062968 [GRCh38]
Chr21:44483078 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.65A>G (p.His22Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648122]|not specified [RCV000197426] |
Chr21:43072129 [GRCh38]
Chr21:44492239 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*23G>A |
single nucleotide variant |
not specified [RCV000197502] |
Chr21:43053857 [GRCh38]
Chr21:44473967 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1359-14C>T |
single nucleotide variant |
Homocystinuria [RCV000303883]|not specified [RCV000197508] |
Chr21:43058267 [GRCh38]
Chr21:44478377 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.1266G>A (p.Pro422=) |
single nucleotide variant |
not specified [RCV000197684] |
Chr21:43058926 [GRCh38]
Chr21:44479036 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.266T>A (p.Met89Lys) |
single nucleotide variant |
not provided [RCV000197745] |
Chr21:43068559 [GRCh38]
Chr21:44488669 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1059G>A (p.Thr353=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243136]|Homocystinuria due to CBS deficiency [RCV000230184]|Thoracic aortic aneurysm and aortic dissection [RCV000243136]|not specified [RCV000197907] |
Chr21:43060527 [GRCh38]
Chr21:44480637 [GRCh37]
Chr21:21q22.3 |
benign|likely benign |
| NM_000071.2(CBS):c.610G>A (p.Val204Met) |
single nucleotide variant |
not specified [RCV000197936] |
Chr21:43065443 [GRCh38]
Chr21:44485553 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.397G>A (p.Asp133Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243532]|Thoracic aortic aneurysm and aortic dissection [RCV000243532]|not specified [RCV000198043] |
Chr21:43066297 [GRCh38]
Chr21:44486407 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000764259]|not specified [RCV000198168] |
Chr21:43058839 [GRCh38]
Chr21:44478949 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.750G>A (p.Met250Ile) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000800742]|not specified [RCV000198250] |
Chr21:43063978 [GRCh38]
Chr21:44484088 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.451+29A>G |
single nucleotide variant |
not specified [RCV000198338] |
Chr21:43066214 [GRCh38]
Chr21:44486324 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.670C>T (p.Arg224Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243693]|Homocystinuria due to CBS deficiency [RCV000556147]|Thoracic aortic aneurysm and aortic dissection [RCV000243693]|not provided [RCV000198459]|not provided [RCV000726462]|not specified [RCV000265141] |
Chr21:43065269 [GRCh38]
Chr21:44485379 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.1223+5G>A |
single nucleotide variant |
not specified [RCV000198579] |
Chr21:43059221 [GRCh38]
Chr21:44479331 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1539C>T (p.His513=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620553]|not specified [RCV000198655] |
Chr21:43056816 [GRCh38]
Chr21:44476926 [GRCh37]
Chr21:21q22.3 |
pathogenic|benign|likely benign |
| NM_000071.2(CBS):c.856A>G (p.Ile286Val) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648120]|not provided [RCV000731875]|not specified [RCV000198696] |
Chr21:43063051 [GRCh38]
Chr21:44483161 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*123C>G |
single nucleotide variant |
Homocystinuria [RCV000291681]|not specified [RCV000198815] |
Chr21:43053757 [GRCh38]
Chr21:44473867 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.401G>C (p.Gly134Ala) |
single nucleotide variant |
not specified [RCV000198867] |
Chr21:43066293 [GRCh38]
Chr21:44486403 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.133C>T (p.Arg45Trp) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000475469]|not specified [RCV000198945] |
Chr21:43072061 [GRCh38]
Chr21:44492171 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.954+127G>A |
single nucleotide variant |
not specified [RCV000198954] |
Chr21:43062826 [GRCh38]
Chr21:44482936 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1009A>C (p.Met337Leu) |
single nucleotide variant |
not specified [RCV000199004] |
Chr21:43062341 [GRCh38]
Chr21:44482451 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.829-88G>A |
single nucleotide variant |
not specified [RCV000199128] |
Chr21:43063166 [GRCh38]
Chr21:44483276 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.253G>A (p.Gly85Arg) |
single nucleotide variant |
not provided [RCV000195506] |
Chr21:43068572 [GRCh38]
Chr21:44488682 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.457G>A (p.Gly153Arg) |
single nucleotide variant |
Homocystinuria [RCV000781198]|Homocystinuria due to CBS deficiency [RCV000689266]|not provided [RCV000195644] |
Chr21:43065690 [GRCh38]
Chr21:44485800 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.1040-14G>T |
single nucleotide variant |
not specified [RCV000195686] |
Chr21:43060560 [GRCh38]
Chr21:44480670 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.992C>A (p.Ala331Glu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000547604]|not provided [RCV000199169] |
Chr21:43062358 [GRCh38]
Chr21:44482468 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.209C>T (p.Pro70Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000691905]|not specified [RCV000199276] |
Chr21:43071985 [GRCh38]
Chr21:44492095 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.394C>T (p.Arg132Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620847]|Homocystinuria due to CBS deficiency [RCV000460928]|not provided [RCV000726351]|not specified [RCV000195820] |
Chr21:43066300 [GRCh38]
Chr21:44486410 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.1051G>C (p.Gly351Arg) |
single nucleotide variant |
not provided [RCV000195902] |
Chr21:43060535 [GRCh38]
Chr21:44480645 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1223+12C>T |
single nucleotide variant |
not specified [RCV000199417] |
Chr21:43059214 [GRCh38]
Chr21:44479324 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1070C>G (p.Ala357Gly) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000473415]|not specified [RCV000199512] |
Chr21:43060516 [GRCh38]
Chr21:44480626 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|uncertain significance |
| NM_000071.2(CBS):c.1061_1069delTGGCGGTGG (p.Val354_Val356del) |
deletion |
not provided [RCV000195988] |
Chr21:43060517..43060525 [GRCh38]
Chr21:44480627..44480635 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1009A>G (p.Met337Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000243887]|Thoracic aortic aneurysm and aortic dissection [RCV000243887]|not specified [RCV000196067] |
Chr21:43062341 [GRCh38]
Chr21:44482451 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1223G>A (p.Trp408Ter) |
single nucleotide variant |
not provided [RCV000196138] |
Chr21:43059226 [GRCh38]
Chr21:44479336 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.1467+38A>G |
single nucleotide variant |
not specified [RCV000199697]|not specified [RCV000598158] |
Chr21:43058107 [GRCh38]
Chr21:44478217 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.325T>C (p.Cys109Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248928]|Homocystinuria [RCV000588375]|Homocystinuria due to CBS deficiency [RCV000535881]|Thoracic aortic aneurysm and aortic dissection [RCV000248928]|not provided [RCV000199752] |
Chr21:43066369 [GRCh38]
Chr21:44486479 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242755]|Homocystinuria due to CBS deficiency [RCV000231839]|Thoracic aortic aneurysm and aortic dissection [RCV000242755]|not provided [RCV000199827]|not provided [RCV000514877]|not specified [RCV000377293] |
Chr21:43060481 [GRCh38]
Chr21:44480591 [GRCh37]
Chr21:21q22.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.1359-134G>A |
single nucleotide variant |
not specified [RCV000199911] |
Chr21:43058387 [GRCh38]
Chr21:44478497 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.636C>G (p.Asn212Lys) |
single nucleotide variant |
not specified [RCV000196277] |
Chr21:43065417 [GRCh38]
Chr21:44485527 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000763061]|not provided [RCV000196320] |
Chr21:43060451 [GRCh38]
Chr21:44480561 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.1111G>A (p.Val371Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000410135]|not provided [RCV000196393] |
Chr21:43060475 [GRCh38]
Chr21:44480585 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.215A>T (p.Lys72Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617440]|Homocystinuria due to CBS deficiency [RCV000547149]|not specified [RCV000196407] |
Chr21:43068610 [GRCh38]
Chr21:44488720 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|uncertain significance |
| NM_000071.2(CBS):c.700G>A (p.Asp234Asn) |
single nucleotide variant |
Homocystinuria [RCV000586183]|not provided [RCV000199941] |
Chr21:43065239 [GRCh38]
Chr21:44485349 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.526G>T (p.Glu176Ter) |
single nucleotide variant |
not provided [RCV000200013] |
Chr21:43065621 [GRCh38]
Chr21:44485731 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1114G>T (p.Val372Phe) |
single nucleotide variant |
not specified [RCV000200072] |
Chr21:43060472 [GRCh38]
Chr21:44480582 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.616G>A (p.Val206Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648123]|not specified [RCV000200147] |
Chr21:43065437 [GRCh38]
Chr21:44485547 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 |
copy number loss |
See cases [RCV000240216] |
Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.28del (p.Val10fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000279971]|not provided [RCV000723446] |
Chr21:43072166 [GRCh38]
Chr21:44492276 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAT |
insertion |
Homocystinuria due to CBS deficiency [RCV000204184] |
Chr21:43063073..43063074 [GRCh38]
Chr21:44483183..44483184 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.404C>T (p.Thr135Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000549296] |
Chr21:43066290 [GRCh38]
Chr21:44486400 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1040-6C>G |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000555901] |
Chr21:43060552 [GRCh38]
Chr21:44480662 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.284T>C (p.Ile95Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000557426] |
Chr21:43068541 [GRCh38]
Chr21:44488651 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1009_1012del (p.Arg336_Met337insTer) |
deletion |
Homocystinuria due to CBS deficiency [RCV000670102] |
Chr21:43062338..43062341 [GRCh38]
Chr21:44482447..44482451 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA |
insertion |
Homocystinuria due to CBS deficiency [RCV000466043]|not specified [RCV000222887] |
Chr21:43063074..43063075 [GRCh38]
Chr21:44483184..44483185 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.297C>G (p.Phe99Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000229409] |
Chr21:43068528 [GRCh38]
Chr21:44488638 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.894G>A (p.Gln298=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621255]|Homocystinuria [RCV000328152]|Homocystinuria due to CBS deficiency [RCV000227545] |
Chr21:43063013 [GRCh38]
Chr21:44483123 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.134G>A (p.Arg45Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620035]|Homocystinuria due to CBS deficiency [RCV000229516] |
Chr21:43072060 [GRCh38]
Chr21:44492170 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*540G>A |
single nucleotide variant |
Homocystinuria [RCV000389561]|Homocystinuria due to CBS deficiency [RCV000226284]|not provided [RCV000224812]|not specified [RCV000454427] |
Chr21:43053340 [GRCh38]
Chr21:44473450 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.1272C>T (p.Thr424=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000226738]|not specified [RCV000601973] |
Chr21:43058920 [GRCh38]
Chr21:44479030 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|likely benign |
| NM_000071.2(CBS):c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA |
insertion |
Homocystinuria due to CBS deficiency [RCV000230973] |
Chr21:43063074..43063075 [GRCh38]
Chr21:44483184..44483185 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.147G>A (p.Pro49=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000233432]|not specified [RCV000614633] |
Chr21:43072047 [GRCh38]
Chr21:44492157 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.450C>T (p.Thr150=) |
single nucleotide variant |
not provided [RCV000757059] |
Chr21:43066244 [GRCh38]
Chr21:44486354 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.737-9G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000559718] |
Chr21:43064000 [GRCh38]
Chr21:44484110 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 |
copy number loss |
See cases [RCV000239948] |
Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 |
copy number gain |
See cases [RCV000239953] |
Chr21:39841248..44652723 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.683A>G (p.Asn228Ser) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000669206] |
Chr21:43065256 [GRCh38]
Chr21:44485366 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.321C>T (p.Ala107=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620984] |
Chr21:43066373 [GRCh38]
Chr21:44486483 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.845_846insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGGGTGGATC (p.Glu283_Gly284insSerArgTrpGlyPheCysTrpAlaTer) |
insertion |
Cardiovascular phenotype [RCV000243626]|Thoracic aortic aneurysm and aortic dissection [RCV000243626] |
Chr21:43063062..43063063 [GRCh38]
Chr21:44483172..44483173 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.52C>T (p.Arg18Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251012]|Homocystinuria due to CBS deficiency [RCV000466468]|Thoracic aortic aneurysm and aortic dissection [RCV000251012]|not specified [RCV000359251] |
Chr21:43072142 [GRCh38]
Chr21:44492252 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 |
copy number gain |
See cases [RCV000240397] |
Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.210-3C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV000243777]|Thoracic aortic aneurysm and aortic dissection [RCV000243777] |
Chr21:43068618 [GRCh38]
Chr21:44488728 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1358G>A (p.Gly453Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248732]|Thoracic aortic aneurysm and aortic dissection [RCV000248732] |
Chr21:43058834 [GRCh38]
Chr21:44478944 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.615G>C (p.Gly205=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253509]|Thoracic aortic aneurysm and aortic dissection [RCV000253509]|not specified [RCV000612253] |
Chr21:43065438 [GRCh38]
Chr21:44485548 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.441C>T (p.Ser147=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253510]|Thoracic aortic aneurysm and aortic dissection [RCV000253510] |
Chr21:43066253 [GRCh38]
Chr21:44486363 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1358+15C>G |
single nucleotide variant |
not specified [RCV000243901] |
Chr21:43058819 [GRCh38]
Chr21:44478929 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.537C>T (p.Asp179=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000246339]|Thoracic aortic aneurysm and aortic dissection [RCV000246339] |
Chr21:43065516 [GRCh38]
Chr21:44485626 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1436T>C (p.Val479Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000253951]|Thoracic aortic aneurysm and aortic dissection [RCV000253951] |
Chr21:43058176 [GRCh38]
Chr21:44478286 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.609C>T (p.His203=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000241826]|Homocystinuria due to CBS deficiency [RCV000551991]|Thoracic aortic aneurysm and aortic dissection [RCV000241826] |
Chr21:43065444 [GRCh38]
Chr21:44485554 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1472G>A (p.Arg491His) |
single nucleotide variant |
Cardiovascular phenotype [RCV000249170]|Thoracic aortic aneurysm and aortic dissection [RCV000249170]|not specified [RCV000483442] |
Chr21:43056883 [GRCh38]
Chr21:44476993 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.548C>T (p.Ala183Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000251610]|Homocystinuria due to CBS deficiency [RCV000541664]|Thoracic aortic aneurysm and aortic dissection [RCV000251610] |
Chr21:43065505 [GRCh38]
Chr21:44485615 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.981C>T (p.Asn327=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000254201]|Thoracic aortic aneurysm and aortic dissection [RCV000254201] |
Chr21:43062369 [GRCh38]
Chr21:44482479 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.844_845ins68 (p.?) |
insertion |
Cardiovascular phenotype [RCV000254255]|Thoracic aortic aneurysm and aortic dissection [RCV000254255] |
Chr21:43063062..43063063 [GRCh38]
Chr21:44483172..44483173 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|likely benign |
| NM_000071.2(CBS):c.469G>A (p.Ala157Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242064]|Homocystinuria due to CBS deficiency [RCV000527354]|Thoracic aortic aneurysm and aortic dissection [RCV000242064] |
Chr21:43065678 [GRCh38]
Chr21:44485788 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1161C>T (p.Ser387=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247137]|Homocystinuria [RCV000298066]|Homocystinuria due to CBS deficiency [RCV000540125]|Thoracic aortic aneurysm and aortic dissection [RCV000247137]|not specified [RCV000444504] |
Chr21:43059288 [GRCh38]
Chr21:44479398 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.786G>A (p.Thr262=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247142]|Homocystinuria [RCV000320891]|Thoracic aortic aneurysm and aortic dissection [RCV000247142] |
Chr21:43063942 [GRCh38]
Chr21:44484052 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.1563C>T (p.Thr521=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247234]|Thoracic aortic aneurysm and aortic dissection [RCV000247234]|not specified [RCV000423638] |
Chr21:43053973 [GRCh38]
Chr21:44474083 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.342G>A (p.Ala114=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252220]|Thoracic aortic aneurysm and aortic dissection [RCV000252220]|not specified [RCV000607168] |
Chr21:43066352 [GRCh38]
Chr21:44486462 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1524C>T (p.Phe508=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000242707]|Thoracic aortic aneurysm and aortic dissection [RCV000242707]|not specified [RCV000611212] |
Chr21:43056831 [GRCh38]
Chr21:44476941 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.612G>C (p.Val204=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000252579]|Homocystinuria due to CBS deficiency [RCV000530417]|Thoracic aortic aneurysm and aortic dissection [RCV000252579]|not provided [RCV000755892] |
Chr21:43065441 [GRCh38]
Chr21:44485551 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.394C>A (p.Arg132Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247887]|Thoracic aortic aneurysm and aortic dissection [RCV000247887] |
Chr21:43066300 [GRCh38]
Chr21:44486410 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1644G>C (p.Arg548=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000247988]|Thoracic aortic aneurysm and aortic dissection [RCV000247988] |
Chr21:43053892 [GRCh38]
Chr21:44474002 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NC_000021.8:g.(?_43892908)_(45629566_?)dup |
duplication |
Ciliary dyskinesia [RCV000552378]|Primary ciliary dyskinesia [RCV000552378]|Progressive myoclonic epilepsy [RCV000552378] |
Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1262C>A (p.Ala421Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000248108]|Thoracic aortic aneurysm and aortic dissection [RCV000248108] |
Chr21:43058930 [GRCh38]
Chr21:44479040 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.-85+10G>C |
single nucleotide variant |
Homocystinuria [RCV000269876]|not specified [RCV000616419] |
Chr21:43075760 [GRCh38]
Chr21:44495870 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.888G>A (p.Thr296=) |
single nucleotide variant |
Homocystinuria [RCV000269470] |
Chr21:43063019 [GRCh38]
Chr21:44483129 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*566G>A |
single nucleotide variant |
Homocystinuria [RCV000356006] |
Chr21:43053314 [GRCh38]
Chr21:44473424 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.301C>G (p.Leu101Val) |
single nucleotide variant |
Homocystinuria [RCV000310277] |
Chr21:43068524 [GRCh38]
Chr21:44488634 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.-160C>T |
single nucleotide variant |
Homocystinuria [RCV000361054] |
Chr21:43075845 [GRCh38]
Chr21:44495955 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.-136C>T |
single nucleotide variant |
Homocystinuria [RCV000322649] |
Chr21:43075821 [GRCh38]
Chr21:44495931 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.352G>A (p.Val118Met) |
single nucleotide variant |
Homocystinuria [RCV000368495] |
Chr21:43066342 [GRCh38]
Chr21:44486452 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001178008.2(CBS):c.1194_1196GGA[2] (p.Glu400del) |
microsatellite |
Homocystinuria [RCV000396187] |
Chr21:43059247..43059249 [GRCh38]
Chr21:44479357..44479359 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.924C>T (p.Tyr308=) |
single nucleotide variant |
Homocystinuria [RCV000275457]|not specified [RCV000435286] |
Chr21:43062983 [GRCh38]
Chr21:44483093 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.*544T>C |
single nucleotide variant |
Homocystinuria [RCV000316354] |
Chr21:43053336 [GRCh38]
Chr21:44473446 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.532G>A (p.Val178Met) |
single nucleotide variant |
Homocystinuria [RCV000279590] |
Chr21:43065521 [GRCh38]
Chr21:44485631 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*81G>A |
single nucleotide variant |
Homocystinuria [RCV000382889] |
Chr21:43053799 [GRCh38]
Chr21:44473909 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.*383C>T |
single nucleotide variant |
Homocystinuria [RCV000331352] |
Chr21:43053497 [GRCh38]
Chr21:44473607 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.*299G>A |
single nucleotide variant |
Homocystinuria [RCV000385969] |
Chr21:43053581 [GRCh38]
Chr21:44473691 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.*472C>T |
single nucleotide variant |
Homocystinuria [RCV000276313] |
Chr21:43053408 [GRCh38]
Chr21:44473518 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.600G>A (p.Pro200=) |
single nucleotide variant |
Homocystinuria [RCV000405423]|Homocystinuria due to CBS deficiency [RCV000648125] |
Chr21:43065453 [GRCh38]
Chr21:44485563 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.*565C>T |
single nucleotide variant |
Homocystinuria [RCV000261214] |
Chr21:43053315 [GRCh38]
Chr21:44473425 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.612G>T (p.Val204=) |
single nucleotide variant |
Homocystinuria [RCV000338486]|not specified [RCV000430115] |
Chr21:43065441 [GRCh38]
Chr21:44485551 [GRCh37]
Chr21:21q22.3 |
benign|uncertain significance |
| NM_000071.2(CBS):c.*592T>A |
single nucleotide variant |
Homocystinuria [RCV000300649] |
Chr21:43053288 [GRCh38]
Chr21:44473398 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001178009.3(CBS):c.18+85_18+89del |
microsatellite |
Homocystinuria [RCV000346936] |
Chr21:43053773..43053777 [GRCh38]
Chr21:44473883..44473887 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1146-12C>T |
single nucleotide variant |
Homocystinuria [RCV000352918] |
Chr21:43059315 [GRCh38]
Chr21:44479425 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1208C>T (p.Thr403Met) |
single nucleotide variant |
not specified [RCV000372121] |
Chr21:43059241 [GRCh38]
Chr21:44479351 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1342G>A (p.Val448Met) |
single nucleotide variant |
not specified [RCV000490064] |
Chr21:43058850 [GRCh38]
Chr21:44478960 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1221del (p.Trp408fs) |
deletion |
Homocystinuria [RCV000588547]|Homocystinuria due to CBS deficiency [RCV000666270] |
Chr21:43059228 [GRCh38]
Chr21:44479338 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.-50dup |
duplication |
Homocystinuria [RCV000362148] |
Chr21:43073307 [GRCh38]
Chr21:44493417 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1453A>G (p.Lys485Glu) |
single nucleotide variant |
Homocystinuria [RCV000403386] |
Chr21:43058159 [GRCh38]
Chr21:44478269 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*55_*57del |
deletion |
Homocystinuria [RCV000288348] |
Chr21:43053823..43053825 [GRCh38]
Chr21:44473933..44473935 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1357G>T (p.Gly453Trp) |
single nucleotide variant |
Homocystinuria [RCV000339973] |
Chr21:43058835 [GRCh38]
Chr21:44478945 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.373C>T (p.Arg125Trp) |
single nucleotide variant |
Homocystinuria [RCV000394087]|Homocystinuria due to CBS deficiency [RCV000667483] |
Chr21:43066321 [GRCh38]
Chr21:44486431 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1413G>C (p.Gly471=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621458]|Homocystinuria due to CBS deficiency [RCV000648124] |
Chr21:43058199 [GRCh38]
Chr21:44478309 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.106A>G (p.Lys36Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617634] |
Chr21:43072088 [GRCh38]
Chr21:44492198 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.843_844ins68 (p.?) |
insertion |
not provided [RCV000587532] |
Chr21:43063063..43063064 [GRCh38]
Chr21:44483173..44483174 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1224-14C>T |
single nucleotide variant |
not specified [RCV000604123] |
Chr21:43058982 [GRCh38]
Chr21:44479092 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1224-5C>T |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648131]|not specified [RCV000604190] |
Chr21:43058973 [GRCh38]
Chr21:44479083 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1496_1497TC[1] (p.Ser500fs) |
microsatellite |
Homocystinuria due to CBS deficiency [RCV000593857] |
Chr21:43056856..43056857 [GRCh38]
Chr21:44476966..44476967 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.221C>T (p.Pro74Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621470] |
Chr21:43068604 [GRCh38]
Chr21:44488714 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1110C>T (p.Cys370=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621826]|not provided [RCV000840208] |
Chr21:43060476 [GRCh38]
Chr21:44480586 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.707_708delinsGGTG (p.Thr236fs) |
indel |
Homocystinuria due to CBS deficiency [RCV000409103] |
Chr21:43065231..43065232 [GRCh38]
Chr21:44485341..44485342 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.19dup (p.Gln7fs) |
duplication |
Homocystinuria due to CBS deficiency [RCV000409151]|not provided [RCV000478091] |
Chr21:43072175 [GRCh38]
Chr21:44492285 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1007G>A (p.Arg336His) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000409189] |
Chr21:43062343 [GRCh38]
Chr21:44482453 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.18_36del (p.Glu9fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000409242] |
Chr21:43072158..43072176 [GRCh38]
Chr21:44492268..44492286 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.209+1G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000409345] |
Chr21:43071984 [GRCh38]
Chr21:44492094 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.954+1G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000409556] |
Chr21:43062952 [GRCh38]
Chr21:44483062 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1468-1G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000409904] |
Chr21:43056888 [GRCh38]
Chr21:44476998 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.959T>C (p.Val320Ala) |
single nucleotide variant |
Homocystinuria [RCV000780081]|Homocystinuria due to CBS deficiency [RCV000410016] |
Chr21:43062391 [GRCh38]
Chr21:44482501 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.738delG |
deletion |
Homocystinuria due to CBS deficiency [RCV000410740] |
Chr21:43063990 [GRCh38]
Chr21:44484100 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.903C>G (p.Tyr301Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000411137] |
Chr21:43063004 [GRCh38]
Chr21:44483114 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.316+1G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000411421] |
Chr21:43068508 [GRCh38]
Chr21:44488618 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.442G>A (p.Gly148Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000411624] |
Chr21:43066252 [GRCh38]
Chr21:44486362 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.402del (p.Thr135fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000411736] |
Chr21:43066292 [GRCh38]
Chr21:44486402 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.676G>A (p.Ala226Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000412334] |
Chr21:43065263 [GRCh38]
Chr21:44485373 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.467del (p.Leu156fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000412346] |
Chr21:43065680 [GRCh38]
Chr21:44485790 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1321A>T (p.Lys441Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000412412] |
Chr21:43058871 [GRCh38]
Chr21:44478981 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.531+34G>T |
single nucleotide variant |
not specified [RCV000594521] |
Chr21:43065582 [GRCh38]
Chr21:44485692 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1287C>T (p.Ile429=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000532520] |
Chr21:43058905 [GRCh38]
Chr21:44479015 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000696029]|not specified [RCV000594688] |
Chr21:43053942 [GRCh38]
Chr21:44474052 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.430G>C (p.Glu144Gln) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000538588] |
Chr21:43066264 [GRCh38]
Chr21:44486374 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.317-46G>C |
single nucleotide variant |
not specified [RCV000594994] |
Chr21:43066423 [GRCh38]
Chr21:44486533 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.844C>T (p.Pro282Ser) |
single nucleotide variant |
not specified [RCV000413391] |
Chr21:43063063 [GRCh38]
Chr21:44483173 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1146-7C>T |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000525260] |
Chr21:43059310 [GRCh38]
Chr21:44479420 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 |
copy number loss |
See cases [RCV000446372] |
Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 |
copy number loss |
See cases [RCV000447618] |
Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.1553-16C>T |
single nucleotide variant |
not specified [RCV000423702] |
Chr21:43053999 [GRCh38]
Chr21:44474109 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.736+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV000618579]|not specified [RCV000441406] |
Chr21:43065198 [GRCh38]
Chr21:44485308 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1223+16C>G |
single nucleotide variant |
not specified [RCV000444905] |
Chr21:43059210 [GRCh38]
Chr21:44479320 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.501C>T (p.Ile167=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617181]|Homocystinuria due to CBS deficiency [RCV000460009]|not specified [RCV000444974] |
Chr21:43065646 [GRCh38]
Chr21:44485756 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.829-3C>T |
single nucleotide variant |
not specified [RCV000427563] |
Chr21:43063081 [GRCh38]
Chr21:44483191 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.456C>T (p.Ile152=) |
single nucleotide variant |
not specified [RCV000417994] |
Chr21:43065691 [GRCh38]
Chr21:44485801 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1626C>T (p.Phe542=) |
single nucleotide variant |
not specified [RCV000424333] |
Chr21:43053910 [GRCh38]
Chr21:44474020 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q22.3(chr21:44477206-44488974)x1 |
copy number loss |
See cases [RCV000445862] |
Chr21:44477206..44488974 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1223+13G>A |
single nucleotide variant |
not specified [RCV000418321] |
Chr21:43059213 [GRCh38]
Chr21:44479323 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1539C>G (p.His513Gln) |
single nucleotide variant |
not specified [RCV000424660] |
Chr21:43056816 [GRCh38]
Chr21:44476926 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.144T>G (p.Ala48=) |
single nucleotide variant |
not specified [RCV000431836] |
Chr21:43072050 [GRCh38]
Chr21:44492160 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1500G>A (p.Ser500=) |
single nucleotide variant |
not specified [RCV000418711] |
Chr21:43056855 [GRCh38]
Chr21:44476965 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.*34G>A |
single nucleotide variant |
not specified [RCV000428969] |
Chr21:43053846 [GRCh38]
Chr21:44473956 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1125C>T (p.Pro375=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619477]|Homocystinuria due to CBS deficiency [RCV000471577]|not specified [RCV000443146] |
Chr21:43060461 [GRCh38]
Chr21:44480571 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.348G>T (p.Gly116=) |
single nucleotide variant |
not specified [RCV000436431] |
Chr21:43066346 [GRCh38]
Chr21:44486456 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.954+4G>A |
single nucleotide variant |
not specified [RCV000433112] |
Chr21:43062949 [GRCh38]
Chr21:44483059 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.*28G>A |
single nucleotide variant |
not specified [RCV000436853] |
Chr21:43053852 [GRCh38]
Chr21:44473962 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.-9+14G>A |
single nucleotide variant |
not specified [RCV000436878] |
Chr21:43073252 [GRCh38]
Chr21:44493362 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.451+20G>A |
single nucleotide variant |
not specified [RCV000433901] |
Chr21:43066223 [GRCh38]
Chr21:44486333 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.954+20C>T |
single nucleotide variant |
not specified [RCV000437285] |
Chr21:43062933 [GRCh38]
Chr21:44483043 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.954+18C>G |
single nucleotide variant |
not specified [RCV000444473] |
Chr21:43062935 [GRCh38]
Chr21:44483045 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1039+3G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000819968]|not specified [RCV000437404] |
Chr21:43062308 [GRCh38]
Chr21:44482418 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.1146-20G>A |
single nucleotide variant |
not specified [RCV000444878] |
Chr21:43059323 [GRCh38]
Chr21:44479433 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 |
copy number loss |
See cases [RCV000448694] |
Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 |
copy number gain |
See cases [RCV000447884] |
Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 |
copy number gain |
See cases [RCV000448199] |
Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 |
copy number gain |
See cases [RCV000447729] |
Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
See cases [RCV000447749] |
Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.395G>A (p.Arg132His) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000462847] |
Chr21:43066299 [GRCh38]
Chr21:44486409 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1425G>A (p.Pro475=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617602]|Homocystinuria due to CBS deficiency [RCV000473993]|not specified [RCV000615993] |
Chr21:43058187 [GRCh38]
Chr21:44478297 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1260A>G (p.Ser420=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000474096] |
Chr21:43058932 [GRCh38]
Chr21:44479042 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.112G>A (p.Ala38Thr) |
single nucleotide variant |
not specified [RCV000483422] |
Chr21:43072082 [GRCh38]
Chr21:44492192 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.18C>T (p.Pro6=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000467075] |
Chr21:43072176 [GRCh38]
Chr21:44492286 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.*22C>T |
single nucleotide variant |
not specified [RCV000483992] |
Chr21:43053858 [GRCh38]
Chr21:44473968 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.296T>A (p.Phe99Tyr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000459701]|not specified [RCV000497848] |
Chr21:43068529 [GRCh38]
Chr21:44488639 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1109G>A (p.Cys370Tyr) |
single nucleotide variant |
not provided [RCV000482454] |
Chr21:43060477 [GRCh38]
Chr21:44480587 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1087del (p.Glu363fs) |
deletion |
not provided [RCV000482968] |
Chr21:43060499 [GRCh38]
Chr21:44480609 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1525G>A (p.Ala509Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000467733] |
Chr21:43056830 [GRCh38]
Chr21:44476940 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1338G>A (p.Ala446=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619420]|Homocystinuria due to CBS deficiency [RCV000456693] |
Chr21:43058854 [GRCh38]
Chr21:44478964 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.138C>T (p.Pro46=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000460431] |
Chr21:43072056 [GRCh38]
Chr21:44492166 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.953C>T (p.Thr318Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000468076]|not provided [RCV000755893] |
Chr21:43062954 [GRCh38]
Chr21:44483064 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.840G>A (p.Val280=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618492]|Homocystinuria due to CBS deficiency [RCV000471977] |
Chr21:43063067 [GRCh38]
Chr21:44483177 [GRCh37]
Chr21:21q22.3 |
likely benign|uncertain significance |
| NM_000071.2(CBS):c.1484C>T (p.Thr495Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000463603]|not specified [RCV000482429] |
Chr21:43056871 [GRCh38]
Chr21:44476981 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1575T>C (p.Ser525=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620261]|Homocystinuria due to CBS deficiency [RCV000457120]|not provided [RCV000827128] |
Chr21:43053961 [GRCh38]
Chr21:44474071 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1593C>T (p.Phe531=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000460907] |
Chr21:43053943 [GRCh38]
Chr21:44474053 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.667-10_667-7del |
deletion |
Homocystinuria due to CBS deficiency [RCV000473352]|not specified [RCV000486155] |
Chr21:43065279..43065282 [GRCh38]
Chr21:44485389..44485392 [GRCh37]
Chr21:21q22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.622T>C (p.Trp208Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000457277]|not provided [RCV000786286] |
Chr21:43065431 [GRCh38]
Chr21:44485541 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.625C>A (p.Arg209=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000461582]|not provided [RCV000840879] |
Chr21:43065428 [GRCh38]
Chr21:44485538 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.152G>A (p.Arg51Lys) |
single nucleotide variant |
not specified [RCV000486724] |
Chr21:43072042 [GRCh38]
Chr21:44492152 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1332C>T (p.Asp444=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000465550] |
Chr21:43058860 [GRCh38]
Chr21:44478970 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.708C>T (p.Thr236=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620433]|Homocystinuria due to CBS deficiency [RCV000469314] |
Chr21:43065231 [GRCh38]
Chr21:44485341 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.874_875delinsTT (p.Glu292Leu) |
indel |
not specified [RCV000482632] |
Chr21:43063032..43063033 [GRCh38]
Chr21:44483142..44483143 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_001178008.2(CBS):c.1213_1215AAG[1] (p.Lys406del) |
microsatellite |
not specified [RCV000486837] |
Chr21:43059231..43059233 [GRCh38]
Chr21:44479341..44479343 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 |
copy number loss |
See cases [RCV000512071] |
Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.857T>C (p.Ile286Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000477458] |
Chr21:43063050 [GRCh38]
Chr21:44483160 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1005_1006delinsTT (p.Arg336Cys) |
indel |
not provided [RCV000487415] |
Chr21:43062344..43062345 [GRCh38]
Chr21:44482454..44482455 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.531G>C (p.Lys177Asn) |
single nucleotide variant |
not specified [RCV000478922] |
Chr21:43065616 [GRCh38]
Chr21:44485726 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.572C>A (p.Thr191Lys) |
single nucleotide variant |
not provided [RCV000497733] |
Chr21:43065481 [GRCh38]
Chr21:44485591 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 |
copy number loss |
See cases [RCV000510684] |
Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3 |
pathogenic |
| NM_000071.2(CBS):c.833_834insCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCAAT (p.Gly279fs) |
insertion |
not specified [RCV000508400] |
Chr21:43063075..43063076 [GRCh38]
Chr21:44483185..44483186 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.340G>A (p.Ala114Thr) |
single nucleotide variant |
not provided [RCV000493781] |
Chr21:43066354 [GRCh38]
Chr21:44486464 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.829-60C>T |
single nucleotide variant |
not specified [RCV000506469] |
Chr21:43063138 [GRCh38]
Chr21:44483248 [GRCh37]
Chr21:21q22.3 |
benign |
| GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 |
copy number loss |
See cases [RCV000511808] |
Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.317-22G>A |
single nucleotide variant |
not specified [RCV000506620] |
Chr21:43066399 [GRCh38]
Chr21:44486509 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) |
copy number gain |
See cases [RCV000511589] |
Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.816T>A (p.Cys272Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000673238]|not specified [RCV000507871] |
Chr21:43063912 [GRCh38]
Chr21:44484022 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1552+1G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000670219] |
Chr21:43056802 [GRCh38]
Chr21:44476912 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1359-1G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000670285] |
Chr21:43058254 [GRCh38]
Chr21:44478364 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.*19G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000669093] |
Chr21:43053861 [GRCh38]
Chr21:44473971 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1082C>T (p.Ala361Val) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000576355] |
Chr21:43060504 [GRCh38]
Chr21:44480614 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 |
copy number loss |
See cases [RCV000510798] |
Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3 |
pathogenic |
| NM_000071.2(CBS):c.832_833ins68 (p.?) |
insertion |
Homocystinuria due to CBS deficiency [RCV000624930] |
Chr21:43063074..43063075 [GRCh38]
Chr21:44483184..44483185 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.297C>T (p.Phe99=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618182] |
Chr21:43068528 [GRCh38]
Chr21:44488638 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.429C>T (p.Ile143=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648128] |
Chr21:43066265 [GRCh38]
Chr21:44486375 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1065G>A (p.Ala355=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648127] |
Chr21:43060521 [GRCh38]
Chr21:44480631 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.384G>A (p.Glu128=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648126] |
Chr21:43066310 [GRCh38]
Chr21:44486420 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619758]|Homocystinuria [RCV000587735]|Homocystinuria due to CBS deficiency [RCV000801652] |
Chr21:43065653 [GRCh38]
Chr21:44485763 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.393G>C (p.Glu131Asp) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000534364] |
Chr21:43066301 [GRCh38]
Chr21:44486411 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.904G>A (p.Glu302Lys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000594989]|not provided [RCV000723460] |
Chr21:43063003 [GRCh38]
Chr21:44483113 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000071.2(CBS):c.389C>T (p.Ala130Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV000622233] |
Chr21:43066305 [GRCh38]
Chr21:44486415 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_44478235)_(44485825_?)del |
deletion |
Homocystinuria due to CBS deficiency [RCV000541049] |
Chr21:43058125..43065715 [GRCh38]
Chr21:44478235..44485825 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.452-12G>T |
single nucleotide variant |
not specified [RCV000609441] |
Chr21:43065707 [GRCh38]
Chr21:44485817 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1552+16C>T |
single nucleotide variant |
not specified [RCV000609559] |
Chr21:43056787 [GRCh38]
Chr21:44476897 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1359-9G>A |
single nucleotide variant |
not specified [RCV000615140] |
Chr21:43058262 [GRCh38]
Chr21:44478372 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1040-16G>A |
single nucleotide variant |
not specified [RCV000606966] |
Chr21:43060562 [GRCh38]
Chr21:44480672 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.447C>T (p.Asn149=) |
single nucleotide variant |
not specified [RCV000609801] |
Chr21:43066247 [GRCh38]
Chr21:44486357 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.33G>A (p.Gly11=) |
single nucleotide variant |
not specified [RCV000615446] |
Chr21:43072161 [GRCh38]
Chr21:44492271 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.351C>T (p.Ser117=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617342] |
Chr21:43066343 [GRCh38]
Chr21:44486453 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1067T>C (p.Val356Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV000618875] |
Chr21:43060519 [GRCh38]
Chr21:44480629 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1039+20G>A |
single nucleotide variant |
not specified [RCV000610303] |
Chr21:43062291 [GRCh38]
Chr21:44482401 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.183C>T (p.Ser61=) |
single nucleotide variant |
not specified [RCV000613054] |
Chr21:43072011 [GRCh38]
Chr21:44492121 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1553-13G>C |
single nucleotide variant |
not specified [RCV000613069] |
Chr21:43053996 [GRCh38]
Chr21:44474106 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1494G>A (p.Arg498=) |
single nucleotide variant |
not specified [RCV000610470] |
Chr21:43056861 [GRCh38]
Chr21:44476971 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1146-5C>T |
single nucleotide variant |
not specified [RCV000613246] |
Chr21:43059308 [GRCh38]
Chr21:44479418 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1380G>A (p.Thr460=) |
single nucleotide variant |
not specified [RCV000616396] |
Chr21:43058232 [GRCh38]
Chr21:44478342 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1359-18C>T |
single nucleotide variant |
not specified [RCV000616417] |
Chr21:43058271 [GRCh38]
Chr21:44478381 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1358+15C>A |
single nucleotide variant |
not specified [RCV000613502] |
Chr21:43058819 [GRCh38]
Chr21:44478929 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.903C>T (p.Tyr301=) |
single nucleotide variant |
not specified [RCV000616857] |
Chr21:43063004 [GRCh38]
Chr21:44483114 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1064C>T (p.Ala355Val) |
single nucleotide variant |
not specified [RCV000598006] |
Chr21:43060522 [GRCh38]
Chr21:44480632 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1209G>A (p.Thr403=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000529449] |
Chr21:43059240 [GRCh38]
Chr21:44479350 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1145+9C>T |
single nucleotide variant |
not specified [RCV000608544] |
Chr21:43060432 [GRCh38]
Chr21:44480542 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1552+21_1552+22del |
microsatellite |
not specified [RCV000611245] |
Chr21:43056781..43056782 [GRCh38]
Chr21:44476891..44476892 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.228C>T (p.Ile76=) |
single nucleotide variant |
not specified [RCV000614149] |
Chr21:43068597 [GRCh38]
Chr21:44488707 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.345C>T (p.Gly115=) |
single nucleotide variant |
not specified [RCV000611855] |
Chr21:43066349 [GRCh38]
Chr21:44486459 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1485G>A (p.Thr495=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000536131] |
Chr21:43056870 [GRCh38]
Chr21:44476980 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.381T>A (p.Ile127=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619643] |
Chr21:43066313 [GRCh38]
Chr21:44486423 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.828+20C>T |
single nucleotide variant |
not specified [RCV000603394] |
Chr21:43063880 [GRCh38]
Chr21:44483990 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1605C>T (p.Thr535=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000619176]|not specified [RCV000609144] |
Chr21:43053931 [GRCh38]
Chr21:44474041 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.828+23A>G |
single nucleotide variant |
not specified [RCV000595759] |
Chr21:43063877 [GRCh38]
Chr21:44483987 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.209+2T>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000670125] |
Chr21:43071983 [GRCh38]
Chr21:44492093 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1166G>C (p.Arg389Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620693]|not specified [RCV000596015] |
Chr21:43059283 [GRCh38]
Chr21:44479393 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.474G>A (p.Ala158=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648129] |
Chr21:43065673 [GRCh38]
Chr21:44485783 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.72G>A (p.Ala24=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648130] |
Chr21:43072122 [GRCh38]
Chr21:44492232 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NC_000021.8:g.(?_44473450)_(44477017_?)del |
deletion |
Homocystinuria due to CBS deficiency [RCV000648132] |
Chr21:43053340..43056907 [GRCh38]
Chr21:44473450..44477017 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.749T>A (p.Met250Lys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648121] |
Chr21:43063979 [GRCh38]
Chr21:44484089 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1451A>G (p.Tyr484Cys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648119] |
Chr21:43058161 [GRCh38]
Chr21:44478271 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.775G>A (p.Gly259Ser) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648118] |
Chr21:43063953 [GRCh38]
Chr21:44484063 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.155G>A (p.Cys52Tyr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648117] |
Chr21:43072039 [GRCh38]
Chr21:44492149 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.209+5G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648116] |
Chr21:43071980 [GRCh38]
Chr21:44492090 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.400G>C (p.Gly134Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000648115] |
Chr21:43066294 [GRCh38]
Chr21:44486404 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1080_1081delinsTA (p.Ala361Thr) |
indel |
Homocystinuria due to CBS deficiency [RCV000648114] |
Chr21:43060505..43060506 [GRCh38]
Chr21:44480615..44480616 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1431C>A (p.Asp477Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617298] |
Chr21:43058181 [GRCh38]
Chr21:44478291 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.539T>C (p.Val180Ala) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000672889] |
Chr21:43065514 [GRCh38]
Chr21:44485624 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1576C>T (p.Gln526Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000672976] |
Chr21:43053960 [GRCh38]
Chr21:44474070 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.828+1G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000673023] |
Chr21:43063899 [GRCh38]
Chr21:44484009 [GRCh37]
Chr21:21q22.3 |
pathogenic|likely pathogenic |
| NM_000071.2(CBS):c.752T>C (p.Leu251Pro) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000671309] |
Chr21:43063976 [GRCh38]
Chr21:44484086 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1545del (p.Ile516fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000669346] |
Chr21:43056810 [GRCh38]
Chr21:44476919..44476920 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.371_374dup (p.Met126fs) |
duplication |
Homocystinuria due to CBS deficiency [RCV000669819] |
Chr21:43066320..43066323 [GRCh38]
Chr21:44486429 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1219_1223+8del |
deletion |
Homocystinuria due to CBS deficiency [RCV000668276] |
Chr21:43059218..43059230 [GRCh38]
Chr21:44479327..44479340 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.*19G>A |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000668372] |
Chr21:43053861 [GRCh38]
Chr21:44473971 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1553-2A>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000671969] |
Chr21:43053985 [GRCh38]
Chr21:44474095 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.403_404delinsG (p.Thr135fs) |
indel |
Homocystinuria due to CBS deficiency [RCV000674577] |
Chr21:43066290..43066291 [GRCh38]
Chr21:44486399..44486401 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1603_1604del (p.Thr535fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000666158] |
Chr21:43053932..43053933 [GRCh38]
Chr21:44474041..44474043 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1301C>A (p.Thr434Asn) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000667146] |
Chr21:43058891 [GRCh38]
Chr21:44479001 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1553-1G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000669704] |
Chr21:43053984 [GRCh38]
Chr21:44474094 [GRCh37]
Chr21:21q22.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000071.2(CBS):c.1358+2T>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000665384] |
Chr21:43058832 [GRCh38]
Chr21:44478942 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.982G>A (p.Asp328Asn) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000665455]|not provided [RCV000755891] |
Chr21:43062368 [GRCh38]
Chr21:44482478 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.*20T>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000667807] |
Chr21:43053860 [GRCh38]
Chr21:44473970 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.862G>A (p.Ala288Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000671575] |
Chr21:43063045 [GRCh38]
Chr21:44483155 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.451+1G>T |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000668133] |
Chr21:43066242 [GRCh38]
Chr21:44486352 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1210_1212del (p.Glu404del) |
deletion |
Homocystinuria due to CBS deficiency [RCV000673393] |
Chr21:43059237..43059239 [GRCh38]
Chr21:44479346..44479349 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.829-1G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000673689] |
Chr21:43063079 [GRCh38]
Chr21:44483189 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.153_165del (p.Arg51fs) |
deletion |
Homocystinuria due to CBS deficiency [RCV000674825] |
Chr21:43072029..43072041 [GRCh38]
Chr21:44492138..44492151 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1656A>C (p.Ter552Cys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000674493] |
Chr21:43053880 [GRCh38]
Chr21:44473990 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.829-11G>T |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000666454] |
Chr21:43063089 [GRCh38]
Chr21:44483199 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.954+2T>G |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000672813] |
Chr21:43062951 [GRCh38]
Chr21:44483061 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1304T>C (p.Ile435Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000666335] |
Chr21:43058888 [GRCh38]
Chr21:44478998 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.650C>T (p.Ser217Phe) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000673555] |
Chr21:43065403 [GRCh38]
Chr21:44485513 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1061_1069del (p.Val354_Val356del) |
deletion |
Homocystinuria due to CBS deficiency [RCV000667592] |
Chr21:43060517..43060525 [GRCh38]
Chr21:44480626..44480635 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 |
copy number loss |
not provided [RCV000684163] |
Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.847G>A (p.Glu283Lys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000678282] |
Chr21:43063060 [GRCh38]
Chr21:44483170 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 |
copy number loss |
not provided [RCV000684165] |
Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.1379C>T (p.Thr460Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000688137] |
Chr21:43058233 [GRCh38]
Chr21:44478343 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1337C>T (p.Ala446Val) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000688358] |
Chr21:43058855 [GRCh38]
Chr21:44478965 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.710C>T (p.Ala237Val) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000688536] |
Chr21:43065229 [GRCh38]
Chr21:44485339 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1551G>A (p.Gln517=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000689820] |
Chr21:43056804 [GRCh38]
Chr21:44476914 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1148C>T (p.Thr383Ile) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000701888] |
Chr21:43059301 [GRCh38]
Chr21:44479411 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1106G>A (p.Arg369His) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000701963] |
Chr21:43060480 [GRCh38]
Chr21:44480590 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.745G>A (p.Asp249Asn) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000691790] |
Chr21:43063983 [GRCh38]
Chr21:44484093 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_43892908)_(44592410_?)dup |
duplication |
Ciliary dyskinesia [RCV000708153]|Primary ciliary dyskinesia [RCV000708153] |
Chr21:42472798..43172300 [GRCh38]
Chr21:43892908..44592410 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.588G>C (p.Arg196Ser) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000700809] |
Chr21:43065465 [GRCh38]
Chr21:44485575 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1597G>T (p.Val533Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000703932] |
Chr21:43053939 [GRCh38]
Chr21:44474049 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.452-153_624dup |
duplication |
Homocystinuria due to CBS deficiency [RCV000692522] |
Chr21:43065430..43065849 [GRCh38]
Chr21:44485540..44485959 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.451G>T (p.Gly151Trp) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000706588] |
Chr21:43066243 [GRCh38]
Chr21:44486353 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.766G>A (p.Gly256Ser) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000694837] |
Chr21:43063962 [GRCh38]
Chr21:44484072 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.493T>G (p.Cys165Gly) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000704014] |
Chr21:43065654 [GRCh38]
Chr21:44485764 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.532-2A>G |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000706753] |
Chr21:43065523 [GRCh38]
Chr21:44485633 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NC_000021.8:g.(?_44473970)_(44492323_?)dup |
duplication |
Homocystinuria due to CBS deficiency [RCV000707850] |
Chr21:43053860..43072213 [GRCh38]
Chr21:44473970..44492323 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.954+5G>T |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000699960] |
Chr21:43062948 [GRCh38]
Chr21:44483058 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.664C>T (p.Gln222Ter) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000778918] |
Chr21:43065389 [GRCh38]
Chr21:44485499 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 |
copy number gain |
not provided [RCV000741419] |
Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 |
copy number gain |
not provided [RCV000741413] |
Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 |
copy number gain |
not provided [RCV000741415] |
Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 |
copy number gain |
not provided [RCV000741418] |
Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3 |
pathogenic |
| GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) |
copy number loss |
not provided [RCV000767626] |
Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.1040-322T>C |
single nucleotide variant |
not provided [RCV000828476] |
Chr21:43060868 [GRCh38]
Chr21:44480978 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.209+1G>A |
single nucleotide variant |
Homocystinuria [RCV000780080] |
Chr21:43071984 [GRCh38]
Chr21:44492094 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA |
indel |
Homocystinuria due to CBS deficiency [RCV000779356] |
Chr21:43075757..43075771 [GRCh38]
Chr21:44495866..44495881 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.526G>A (p.Glu176Lys) |
single nucleotide variant |
Homocystinuria [RCV000781199] |
Chr21:43065621 [GRCh38]
Chr21:44485731 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| Single allele |
duplication |
not provided [RCV000768458] |
Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3 |
likely pathogenic |
| NM_000071.2(CBS):c.1237C>T (p.Arg413Cys) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000792519] |
Chr21:43058955 [GRCh38]
Chr21:44479065 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.9:g.43071882del |
deletion |
not provided [RCV000834596] |
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.-8-292G>C |
single nucleotide variant |
not provided [RCV000827661] |
Chr21:43072493 [GRCh38]
Chr21:44492603 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1398G>A (p.Ser466=) |
single nucleotide variant |
not provided [RCV000827620] |
Chr21:43058214 [GRCh38]
Chr21:44478324 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1564G>A (p.Gly522Arg) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000819074] |
Chr21:43053972 [GRCh38]
Chr21:44474082 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.316+5G>C |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000821048] |
Chr21:43068504 [GRCh38]
Chr21:44488614 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1315C>T (p.Arg439Trp) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000801252] |
Chr21:43058877 [GRCh38]
Chr21:44478987 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.828+237C>T |
single nucleotide variant |
not provided [RCV000838046] |
Chr21:43063663 [GRCh38]
Chr21:44483773 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1223+1G>T |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000806222] |
Chr21:43059225 [GRCh38]
Chr21:44479335 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.829-91G>A |
single nucleotide variant |
not provided [RCV000832361] |
Chr21:43063169 [GRCh38]
Chr21:44483279 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NC_000021.8:g.(?_44473450)_(44492323_?)dup |
duplication |
Homocystinuria due to CBS deficiency [RCV000821930] |
Chr21:43053340..43072213 [GRCh38]
Chr21:44473450..44492323 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.955-108C>A |
single nucleotide variant |
not provided [RCV000834696] |
Chr21:43062503 [GRCh38]
Chr21:44482613 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.829-320G>A |
single nucleotide variant |
not provided [RCV000829876] |
Chr21:43063398 [GRCh38]
Chr21:44483508 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.68C>T (p.Ser23Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000798452] |
Chr21:43072126 [GRCh38]
Chr21:44492236 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1126G>A (p.Asp376Asn) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000801835] |
Chr21:43060460 [GRCh38]
Chr21:44480570 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.599C>T (p.Pro200Leu) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000796081] |
Chr21:43065454 [GRCh38]
Chr21:44485564 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.925G>A (p.Asp309Asn) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000802038] |
Chr21:43062982 [GRCh38]
Chr21:44483092 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1145+241A>G |
single nucleotide variant |
not provided [RCV000838722] |
Chr21:43060200 [GRCh38]
Chr21:44480310 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.-6C>A |
single nucleotide variant |
not provided [RCV000826952] |
Chr21:43072199 [GRCh38]
Chr21:44492309 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1039+6T>G |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000815312] |
Chr21:43062305 [GRCh38]
Chr21:44482415 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.825C>T (p.Cys275=) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000813211] |
Chr21:43063903 [GRCh38]
Chr21:44484013 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1553-48C>T |
single nucleotide variant |
not provided [RCV000833763] |
Chr21:43054031 [GRCh38]
Chr21:44474141 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.545G>A (p.Arg182Gln) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000813541] |
Chr21:43065508 [GRCh38]
Chr21:44485618 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.1146-288T>C |
single nucleotide variant |
not provided [RCV000830132] |
Chr21:43059591 [GRCh38]
Chr21:44479701 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.829-265G>A |
single nucleotide variant |
not provided [RCV000827662] |
Chr21:43063343 [GRCh38]
Chr21:44483453 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1040-323G>A |
single nucleotide variant |
not provided [RCV000827908] |
Chr21:43060869 [GRCh38]
Chr21:44480979 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.791T>C (p.Ile264Thr) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000813085] |
Chr21:43063937 [GRCh38]
Chr21:44484047 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.316+130G>A |
single nucleotide variant |
not provided [RCV000835172] |
Chr21:43068379 [GRCh38]
Chr21:44488489 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1467+191G>A |
single nucleotide variant |
not provided [RCV000835173] |
Chr21:43057954 [GRCh38]
Chr21:44478064 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1146-110C>A |
single nucleotide variant |
not provided [RCV000835209] |
Chr21:43059413 [GRCh38]
Chr21:44479523 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1114G>A (p.Val372Ile) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000796953] |
Chr21:43060472 [GRCh38]
Chr21:44480582 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 |
copy number gain |
not provided [RCV000846937] |
Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3 |
pathogenic |
| NM_000071.2(CBS):c.1467+127_1467+157del |
deletion |
not provided [RCV000833562] |
Chr21:43057988..43058018 [GRCh38]
Chr21:44478098..44478128 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.313C>G (p.Leu105Val) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000794312] |
Chr21:43068512 [GRCh38]
Chr21:44488622 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NC_000021.8:g.(?_43892908)_(45629566_?)del |
deletion |
Primary ciliary dyskinesia [RCV000802591] |
Chr21:43892908..45629566 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| NM_000071.2(CBS):c.736+281A>C |
single nucleotide variant |
not provided [RCV000829047] |
Chr21:43064922 [GRCh38]
Chr21:44485032 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.736+282T>G |
single nucleotide variant |
not provided [RCV000829049] |
Chr21:43064921 [GRCh38]
Chr21:44485031 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.736+295G>A |
single nucleotide variant |
not provided [RCV000829052] |
Chr21:43064908 [GRCh38]
Chr21:44485018 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1040-275G>A |
single nucleotide variant |
not provided [RCV000829054] |
Chr21:43060821 [GRCh38]
Chr21:44480931 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.422C>T (p.Thr141Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000796242] |
Chr21:43066272 [GRCh38]
Chr21:44486382 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.828+262A>T |
single nucleotide variant |
not provided [RCV000843459] |
Chr21:43063638 [GRCh38]
Chr21:44483748 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1358+264A>G |
single nucleotide variant |
not provided [RCV000843470] |
Chr21:43058570 [GRCh38]
Chr21:44478680 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1467+255A>G |
single nucleotide variant |
not provided [RCV000843471] |
Chr21:43057890 [GRCh38]
Chr21:44478000 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.1467+317G>A |
single nucleotide variant |
not provided [RCV000843492] |
Chr21:43057828 [GRCh38]
Chr21:44477938 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.-8-258G>A |
single nucleotide variant |
not provided [RCV000828954] |
Chr21:43072459 [GRCh38]
Chr21:44492569 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.866A>G (p.Glu289Gly) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000799692] |
Chr21:43063041 [GRCh38]
Chr21:44483151 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.954+7C>T |
single nucleotide variant |
not provided [RCV000841432] |
Chr21:43062946 [GRCh38]
Chr21:44483056 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1552+154T>C |
single nucleotide variant |
not provided [RCV000831472] |
Chr21:43056649 [GRCh38]
Chr21:44476759 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.451+75G>A |
single nucleotide variant |
not provided [RCV000834751] |
Chr21:43066168 [GRCh38]
Chr21:44486278 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.209+236G>A |
single nucleotide variant |
not provided [RCV000838730] |
Chr21:43071749 [GRCh38]
Chr21:44491859 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.538G>A (p.Val180Met) |
single nucleotide variant |
Homocystinuria due to CBS deficiency [RCV000797462] |
Chr21:43065515 [GRCh38]
Chr21:44485625 [GRCh37]
Chr21:21q22.3 |
uncertain significance |
| NM_000071.2(CBS):c.669C>T (p.Tyr223=) |
single nucleotide variant |
not provided [RCV000841996] |
Chr21:43065270 [GRCh38]
Chr21:44485380 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1145+268C>T |
single nucleotide variant |
not provided [RCV000827687] |
Chr21:43060173 [GRCh38]
Chr21:44480283 [GRCh37]
Chr21:21q22.3 |
benign |
| NM_000071.2(CBS):c.151A>C (p.Arg51=) |
single nucleotide variant |
not provided [RCV000842329] |
Chr21:43072043 [GRCh38]
Chr21:44492153 [GRCh37]
Chr21:21q22.3 |
likely benign |
| NM_000071.2(CBS):c.1074G>A (p.Val358=) |
single nucleotide variant |
not provided [RCV000842575] |
Chr21:43060512 [GRCh38]
Chr21:44480622 [GRCh37]
Chr21:21q22.3 |
likely benign |
| GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 |
copy number loss |
not provided [RCV000849014] |
Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3 |
pathogenic |
| GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 |
copy number loss |
not provided [RCV000847671] |
Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3 |
pathogenic |
Gene-Chemical Interaction Annotations
