| NM_001039.4(SCNN1G):c.1570-1G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000009373] |
Chr16:23215088 [GRCh38]
Chr16:23226409 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.318-1G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000009374] |
Chr16:23189370 [GRCh38]
Chr16:23200691 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.1627del (p.Val543fs) |
deletion |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000009375] |
Chr16:23215146 [GRCh38]
Chr16:23226467 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000764039]|not specified [RCV000519048] |
Chr16:23214768 [GRCh38]
Chr16:23226089 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.1718G>A (p.Trp573Ter) |
single nucleotide variant |
LIDDLE SYNDROME 2 [RCV000009372]|Pseudoprimary hyperaldosteronism [RCV000009372] |
Chr16:23215237 [GRCh38]
Chr16:23226558 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV000009376]|Pseudohypoaldosteronism type 1 autosomal recessive [RCV000272918]|Pseudohypoaldosteronism, Type I, Recessive [RCV000272918]|Pseudoprimary hyperaldosteronism [RCV000328044]|not provided [RCV000224250]|not specified [RCV000609005] |
Chr16:23189600 [GRCh38]
Chr16:23200921 [GRCh37]
Chr16:16p12.2 |
pathogenic|benign|likely benign |
| NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) |
single nucleotide variant |
Bronchiectasis with or without elevated sweat chloride 3 [RCV000009377]|Pseudohypoaldosteronism type 1 autosomal recessive [RCV000388570]|Pseudohypoaldosteronism, Type I, Recessive [RCV000388570]|Pseudoprimary hyperaldosteronism [RCV000334111]|not provided [RCV000713392]|not specified [RCV000250994] |
Chr16:23189642 [GRCh38]
Chr16:23200963 [GRCh37]
Chr16:16p12.2 |
pathogenic|benign|likely benign |
| GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 |
copy number gain |
Nonsyndromic microcephaly [RCV000051828]|See cases [RCV000051828] |
Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051829]|See cases [RCV000051829] |
Chr16:21463739..29249579 [GRCh38]
Chr16:21475060..29260900 [GRCh37]
Chr16:21382561..29168401 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051842]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051842]|See cases [RCV000051842] |
Chr16:21602183..29314373 [GRCh38]
Chr16:21613504..29325694 [GRCh37]
Chr16:21521005..29233195 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 |
copy number gain |
Global developmental delay [RCV000052401]|See cases [RCV000052401] |
Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052519]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052519]|See cases [RCV000052519] |
Chr16:21600992..28323344 [GRCh38]
Chr16:21612313..28334665 [GRCh37]
Chr16:21519814..28242166 [NCBI36]
Chr16:16p12.2-12.1 |
pathogenic |
| GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 |
copy number gain |
Global developmental delay [RCV000053859]|See cases [RCV000053859] |
Chr16:22755932..23546240 [GRCh38]
Chr16:22767253..23557561 [GRCh37]
Chr16:22674754..23465062 [NCBI36]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.3(SCNN1G):c.405G>A (p.Arg135=) |
single nucleotide variant |
Malignant melanoma [RCV000071042] |
Chr16:23189458 [GRCh38]
Chr16:23200779 [GRCh37]
Chr16:23108280 [NCBI36]
Chr16:16p12.2 |
not provided |
| NM_001039.3(SCNN1G):c.413G>A (p.Arg138Gln) |
single nucleotide variant |
Malignant melanoma [RCV000071043] |
Chr16:23189466 [GRCh38]
Chr16:23200787 [GRCh37]
Chr16:23108288 [NCBI36]
Chr16:16p12.2 |
not provided |
| NM_001039.3(SCNN1G):c.534G>A (p.Arg178=) |
single nucleotide variant |
Malignant melanoma [RCV000071044] |
Chr16:23189587 [GRCh38]
Chr16:23200908 [GRCh37]
Chr16:23108409 [NCBI36]
Chr16:16p12.2 |
not provided |
| NM_001039.3(SCNN1G):c.569C>T (p.Ala190Val) |
single nucleotide variant |
Malignant melanoma [RCV000071045] |
Chr16:23189622 [GRCh38]
Chr16:23200943 [GRCh37]
Chr16:23108444 [NCBI36]
Chr16:16p12.2 |
not provided |
| NM_001039.3(SCNN1G):c.1067G>A (p.Gly356Glu) |
single nucleotide variant |
Malignant melanoma [RCV000071046] |
Chr16:23197417 [GRCh38]
Chr16:23208738 [GRCh37]
Chr16:23116239 [NCBI36]
Chr16:16p12.2 |
not provided |
| NM_001039.3(SCNN1G):c.334C>T (p.His112Tyr) |
single nucleotide variant |
Malignant melanoma [RCV000063003] |
Chr16:23189387 [GRCh38]
Chr16:23200708 [GRCh37]
Chr16:23108209 [NCBI36]
Chr16:16p12.2 |
not provided |
| NM_001039.3(SCNN1G):c.1013C>T (p.Pro338Leu) |
single nucleotide variant |
Malignant melanoma [RCV000063004] |
Chr16:23197363 [GRCh38]
Chr16:23208684 [GRCh37]
Chr16:23116185 [NCBI36]
Chr16:16p12.2 |
not provided |
| GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.1824T>C (p.Ala608=) |
single nucleotide variant |
not specified [RCV000174502] |
Chr16:23215343 [GRCh38]
Chr16:23226664 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 |
copy number gain |
See cases [RCV000135594] |
Chr16:22634385..29227323 [GRCh38]
Chr16:22645706..29238644 [GRCh37]
Chr16:22553207..29146145 [NCBI36]
Chr16:16p12.2-11.2 |
likely pathogenic |
| GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 |
copy number gain |
See cases [RCV000140235] |
Chr16:21350622..29202837 [GRCh38]
Chr16:21361943..29214158 [GRCh37]
Chr16:21269444..29121659 [NCBI36]
Chr16:16p12.2-11.2 |
likely pathogenic |
| NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000328934]|Pseudohypoaldosteronism, Type I, Recessive [RCV000328934]|Pseudoprimary hyperaldosteronism [RCV000383542]|not provided [RCV000710224]|not specified [RCV000151819] |
Chr16:23189440 [GRCh38]
Chr16:23200761 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000355585]|Pseudohypoaldosteronism, Type I, Recessive [RCV000355585]|Pseudoprimary hyperaldosteronism [RCV000300778]|not provided [RCV000710225]|not specified [RCV000151820] |
Chr16:23189527 [GRCh38]
Chr16:23200848 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000387398]|Pseudohypoaldosteronism, Type I, Recessive [RCV000387398]|Pseudoprimary hyperaldosteronism [RCV000293041]|not provided [RCV000713391]|not specified [RCV000151821] |
Chr16:23189602 [GRCh38]
Chr16:23200923 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.1432-7G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000277495]|Pseudohypoaldosteronism, Type I, Recessive [RCV000277495]|Pseudoprimary hyperaldosteronism [RCV000316196]|not provided [RCV000713395]|not specified [RCV000151822] |
Chr16:23213095 [GRCh38]
Chr16:23224416 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.1176+14A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000309447]|Pseudohypoaldosteronism, Type I, Recessive [RCV000309447]|Pseudoprimary hyperaldosteronism [RCV000391223]|not specified [RCV000151823] |
Chr16:23209862 [GRCh38]
Chr16:23221183 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000309769]|Pseudohypoaldosteronism, Type I, Recessive [RCV000309769]|Pseudoprimary hyperaldosteronism [RCV000348242]|not provided [RCV000710223]|not specified [RCV000151824] |
Chr16:23215466 [GRCh38]
Chr16:23226787 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.636C>T (p.Ser212=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000280259]|Pseudohypoaldosteronism, Type I, Recessive [RCV000280259]|Pseudoprimary hyperaldosteronism [RCV000335344]|not provided [RCV000713393]|not specified [RCV000155573] |
Chr16:23192369 [GRCh38]
Chr16:23203690 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000284257]|Pseudohypoaldosteronism, Type I, Recessive [RCV000284257]|Pseudoprimary hyperaldosteronism [RCV000341572]|not provided [RCV000725881]|not specified [RCV000278515] |
Chr16:23215094 [GRCh38]
Chr16:23226415 [GRCh37]
Chr16:16p12.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 |
copy number gain |
Ductal breast carcinoma [RCV000207226] |
Chr16:19590412..29814175 [GRCh37]
Chr16:16p12.3-11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Ductal breast carcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.*659T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000300448]|Pseudohypoaldosteronism, Type I, Recessive [RCV000300448]|Pseudoprimary hyperaldosteronism [RCV000398594] |
Chr16:23216128 [GRCh38]
Chr16:23227449 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*675A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000357562]|Pseudohypoaldosteronism, Type I, Recessive [RCV000357562]|Pseudoprimary hyperaldosteronism [RCV000265167] |
Chr16:23216144 [GRCh38]
Chr16:23227465 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*1369C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000340876]|Pseudohypoaldosteronism, Type I, Recessive [RCV000340876]|Pseudoprimary hyperaldosteronism [RCV000283583] |
Chr16:23216838 [GRCh38]
Chr16:23228159 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.477G>A (p.Pro159=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000302328]|Pseudohypoaldosteronism, Type I, Recessive [RCV000302328]|Pseudoprimary hyperaldosteronism [RCV000407520] |
Chr16:23189530 [GRCh38]
Chr16:23200851 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000266905]|Pseudohypoaldosteronism, Type I, Recessive [RCV000266905]|Pseudoprimary hyperaldosteronism [RCV000361738] |
Chr16:23189591 [GRCh38]
Chr16:23200912 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.-31A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000267876]|Pseudohypoaldosteronism, Type I, Recessive [RCV000267876]|Pseudoprimary hyperaldosteronism [RCV000322965] |
Chr16:23186241 [GRCh38]
Chr16:23197562 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*268G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000268141]|Pseudohypoaldosteronism, Type I, Recessive [RCV000268141]|Pseudoprimary hyperaldosteronism [RCV000379066] |
Chr16:23215737 [GRCh38]
Chr16:23227058 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*789T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000305014]|Pseudohypoaldosteronism, Type I, Recessive [RCV000305014]|Pseudoprimary hyperaldosteronism [RCV000362088] |
Chr16:23216258 [GRCh38]
Chr16:23227579 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*789_*790delinsCT |
indel |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000327157]|Pseudohypoaldosteronism, Type I, Recessive [RCV000327157]|Pseudoprimary hyperaldosteronism [RCV000269807] |
Chr16:23216258..23216259 [GRCh38]
Chr16:23227579..23227580 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.-23G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000382328]|Pseudohypoaldosteronism, Type I, Recessive [RCV000382328]|Pseudoprimary hyperaldosteronism [RCV000287935] |
Chr16:23186249 [GRCh38]
Chr16:23197570 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000379928]|Pseudohypoaldosteronism, Type I, Recessive [RCV000379928]|Pseudoprimary hyperaldosteronism [RCV000287850] |
Chr16:23215108 [GRCh38]
Chr16:23226429 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.*572A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000290607]|Pseudohypoaldosteronism, Type I, Recessive [RCV000290607]|Pseudoprimary hyperaldosteronism [RCV000347941] |
Chr16:23216041 [GRCh38]
Chr16:23227362 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*790C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000273125]|Pseudohypoaldosteronism, Type I, Recessive [RCV000273125]|Pseudoprimary hyperaldosteronism [RCV000365324] |
Chr16:23216259 [GRCh38]
Chr16:23227580 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000274328]|Pseudohypoaldosteronism, Type I, Recessive [RCV000274328]|Pseudoprimary hyperaldosteronism [RCV000366583] |
Chr16:23212044 [GRCh38]
Chr16:23223365 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.399G>A (p.Glu133=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000293883]|Pseudohypoaldosteronism, Type I, Recessive [RCV000293883]|Pseudoprimary hyperaldosteronism [RCV000348767] |
Chr16:23189452 [GRCh38]
Chr16:23200773 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.435C>T (p.Ser145=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000294984]|Pseudohypoaldosteronism, Type I, Recessive [RCV000294984]|Pseudoprimary hyperaldosteronism [RCV000390088]|not specified [RCV000602942] |
Chr16:23189488 [GRCh38]
Chr16:23200809 [GRCh37]
Chr16:16p12.2 |
benign|likely benign |
| NM_001039.4(SCNN1G):c.*154G>T |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000370678]|Pseudohypoaldosteronism, Type I, Recessive [RCV000370678]|Pseudoprimary hyperaldosteronism [RCV000259732] |
Chr16:23215623 [GRCh38]
Chr16:23226944 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*1147A>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000295220]|Pseudohypoaldosteronism, Type I, Recessive [RCV000295220]|Pseudoprimary hyperaldosteronism [RCV000333799] |
Chr16:23216616 [GRCh38]
Chr16:23227937 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.1452C>A (p.Leu484=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000373430]|Pseudohypoaldosteronism, Type I, Recessive [RCV000373430]|Pseudoprimary hyperaldosteronism [RCV000262450] |
Chr16:23213122 [GRCh38]
Chr16:23224443 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.*606T>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000336441]|Pseudohypoaldosteronism, Type I, Recessive [RCV000336441]|Pseudoprimary hyperaldosteronism [RCV000297822] |
Chr16:23216075 [GRCh38]
Chr16:23227396 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*236C>T |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000320650]|Pseudohypoaldosteronism, Type I, Recessive [RCV000320650]|Pseudoprimary hyperaldosteronism [RCV000263142] |
Chr16:23215705 [GRCh38]
Chr16:23227026 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*1198A>T |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000279853]|Pseudohypoaldosteronism, Type I, Recessive [RCV000279853]|Pseudoprimary hyperaldosteronism [RCV000372061] |
Chr16:23216667 [GRCh38]
Chr16:23227988 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.*159T>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000355503]|Pseudohypoaldosteronism, Type I, Recessive [RCV000355503]|Pseudoprimary hyperaldosteronism [RCV000298351] |
Chr16:23215628 [GRCh38]
Chr16:23226949 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.1569+10G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000376818]|Pseudohypoaldosteronism, Type I, Recessive [RCV000376818]|Pseudoprimary hyperaldosteronism [RCV000319801]|not provided [RCV000713396] |
Chr16:23214797 [GRCh38]
Chr16:23226118 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.146_149dup (p.Leu51fs) |
duplication |
not provided [RCV000271903] |
Chr16:23186417..23186420 [GRCh38]
Chr16:23197738..23197741 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.342A>G (p.Leu114=) |
single nucleotide variant |
not specified [RCV000336032] |
Chr16:23189395 [GRCh38]
Chr16:23200716 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.-44-4C>G |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000376481]|Pseudohypoaldosteronism, Type I, Recessive [RCV000376481]|Pseudoprimary hyperaldosteronism [RCV000321774] |
Chr16:23186224 [GRCh38]
Chr16:23197545 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.663G>T (p.Ser221=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000400255]|Pseudohypoaldosteronism, Type I, Recessive [RCV000400255]|Pseudoprimary hyperaldosteronism [RCV000281595] |
Chr16:23192396 [GRCh38]
Chr16:23203717 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000345193]|Pseudohypoaldosteronism, Type I, Recessive [RCV000345193]|Pseudoprimary hyperaldosteronism [RCV000398385] |
Chr16:23215346 [GRCh38]
Chr16:23226667 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.*328G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000382449]|Pseudohypoaldosteronism, Type I, Recessive [RCV000382449]|Pseudoprimary hyperaldosteronism [RCV000325546] |
Chr16:23215797 [GRCh38]
Chr16:23227118 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000362908]|Pseudohypoaldosteronism, Type I, Recessive [RCV000362908]|Pseudoprimary hyperaldosteronism [RCV000326894] |
Chr16:23189592 [GRCh38]
Chr16:23200913 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.1083G>A (p.Glu361=) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000363169]|Pseudohypoaldosteronism, Type I, Recessive [RCV000363169]|Pseudoprimary hyperaldosteronism [RCV000306115] |
Chr16:23209755 [GRCh38]
Chr16:23221076 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.*1370G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000306591]|Pseudohypoaldosteronism, Type I, Recessive [RCV000306591]|Pseudoprimary hyperaldosteronism [RCV000401574] |
Chr16:23216839 [GRCh38]
Chr16:23228160 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.*979T>C |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000387406]|Pseudohypoaldosteronism, Type I, Recessive [RCV000387406]|Pseudoprimary hyperaldosteronism [RCV000330550] |
Chr16:23216448 [GRCh38]
Chr16:23227769 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.699C>T (p.His233=) |
single nucleotide variant |
not specified [RCV000283771] |
Chr16:23192432 [GRCh38]
Chr16:23203753 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.*106G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000313805]|Pseudohypoaldosteronism, Type I, Recessive [RCV000313805]|Pseudoprimary hyperaldosteronism [RCV000393531] |
Chr16:23215575 [GRCh38]
Chr16:23226896 [GRCh37]
Chr16:16p12.2 |
benign |
| NM_001039.4(SCNN1G):c.446G>C (p.Gly149Ala) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000335799]|Pseudohypoaldosteronism, Type I, Recessive [RCV000335799]|Pseudoprimary hyperaldosteronism [RCV000407524] |
Chr16:23189499 [GRCh38]
Chr16:23200820 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.*1261G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000337435]|Pseudohypoaldosteronism, Type I, Recessive [RCV000337435]|Pseudoprimary hyperaldosteronism [RCV000400777] |
Chr16:23216730 [GRCh38]
Chr16:23228051 [GRCh37]
Chr16:16p12.2 |
likely benign |
| NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000341227]|Pseudohypoaldosteronism, Type I, Recessive [RCV000341227]|Pseudoprimary hyperaldosteronism [RCV000399950]|not provided [RCV000713394] |
Chr16:23192509 [GRCh38]
Chr16:23203830 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.1378A>G (p.Lys460Glu) |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000331483]|Pseudohypoaldosteronism, Type I, Recessive [RCV000331483]|Pseudoprimary hyperaldosteronism [RCV000369883] |
Chr16:23212841 [GRCh38]
Chr16:23224162 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.*584G>A |
single nucleotide variant |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000294130]|Pseudohypoaldosteronism, Type I, Recessive [RCV000294130]|Pseudoprimary hyperaldosteronism [RCV000386031] |
Chr16:23216053 [GRCh38]
Chr16:23227374 [GRCh37]
Chr16:16p12.2 |
uncertain significance |
| NM_001039.4(SCNN1G):c.*597dup |
duplication |
Pseudohypoaldosteronism type 1 autosomal recessive [RCV000351489]|Pseudohypoaldosteronism, Type I, Recessive [RCV000351489]|Pseudoprimary hyperaldosteronism [RCV000390316] |
Chr16:23216066 [GRCh38]
Chr16:23227387 [GRCh37]
Chr16:16p12.2 |
likely benign |
| GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 |
copy number gain |
See cases [RCV000449403] |
Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16p12.2-11.2(chr16:22718350-28858721)x4 |
copy number gain |
See cases [RCV000511587] |
Chr16:22718350..28858721 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 |
copy number loss |
See cases [RCV000511271] |
Chr16:21596299..30399167 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 |
copy number gain |
See cases [RCV000512428] |
Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 |
copy number gain |
See cases [RCV000512478] |
Chr16:21379628..29351826 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| SCNN1G, GLN567TER |
single nucleotide variant |
LIDDLE SYNDROME 2 [RCV000680189] |
Chr16:16p12.2 |
pathogenic |
| SCNN1G, ASN530SER |
single nucleotide variant |
LIDDLE SYNDROME 2 [RCV000684753] |
Chr16:16p12.2 |
pathogenic |
| NM_001039.4(SCNN1G):c.1749_1753del (p.Glu583fs) |
deletion |
LIDDLE SYNDROME 2 [RCV000684754] |
Chr16:23215268..23215272 [GRCh38]
Chr16:23226589..23226593 [GRCh37]
Chr16:16p12.2 |
pathogenic |
| GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 |
copy number loss |
not provided [RCV000683786] |
Chr16:21379628..29379768 [GRCh37]
Chr16:16p12.2-11.2 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
Gene-Chemical Interaction Annotations
