| NM_139343.3(BIN1):c.1442C>T (p.Ala481Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000550351] |
Chr2:127051173 [GRCh38]
Chr2:127808749 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1131+7_1131+26del |
deletion |
Autosomal recessive centronuclear myopathy [RCV000543062] |
Chr2:127057447..127057466 [GRCh38]
Chr2:127815023..127815042 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1412C>T (p.Ala471Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000525420] |
Chr2:127051203 [GRCh38]
Chr2:127808779 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1385C>T (p.Ser462Leu) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000551683] |
Chr2:127051230 [GRCh38]
Chr2:127808806 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.469T>C (p.Tyr157His) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000545195] |
Chr2:127068974 [GRCh38]
Chr2:127826550 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000527268] |
Chr2:127048600 [GRCh38]
Chr2:127806176 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.105G>T (p.Lys35Asn) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000008795] |
Chr2:127076686 [GRCh38]
Chr2:127834262 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_139343.3(BIN1):c.451G>A (p.Asp151Asn) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000008796] |
Chr2:127068992 [GRCh38]
Chr2:127826568 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000008797] |
Chr2:127048585 [GRCh38]
Chr2:127806161 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000008798] |
Chr2:127068982 [GRCh38]
Chr2:127826558 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu) |
single nucleotide variant |
not provided [RCV000728437] |
Chr2:127053948 [GRCh38]
Chr2:127811524 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054058]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054058]|See cases [RCV000054058] |
Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3 |
pathogenic |
| GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054059]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054059]|See cases [RCV000054059] |
Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 |
copy number loss |
Global developmental delay [RCV000054060]|See cases [RCV000054060] |
Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| NM_139343.2(BIN1):c.444G>A (p.Val148=) |
single nucleotide variant |
Malignant melanoma [RCV000060313] |
Chr2:127068999 [GRCh38]
Chr2:127826575 [GRCh37]
Chr2:127543045 [NCBI36]
Chr2:2q14.3 |
not provided |
| NM_139343.3(BIN1):c.942C>T (p.His314=) |
single nucleotide variant |
not provided [RCV000724853]|not specified [RCV000174097] |
Chr2:127059071 [GRCh38]
Chr2:127816647 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000765501]|not specified [RCV000174616] |
Chr2:127054002 [GRCh38]
Chr2:127811578 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1132-7T>C |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000536059]|not specified [RCV000145335] |
Chr2:127054019 [GRCh38]
Chr2:127811595 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.1710C>T (p.Asp570=) |
single nucleotide variant |
not specified [RCV000145340] |
Chr2:127048598 [GRCh38]
Chr2:127806174 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000145341] |
Chr2:127048595 [GRCh38]
Chr2:127806171 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_139343.3(BIN1):c.698+10A>G |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000346183]|Centronuclear Myopathy, Recessive [RCV000346183]|not specified [RCV000145345] |
Chr2:127063923 [GRCh38]
Chr2:127821499 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.775-4G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000381094]|Centronuclear Myopathy, Recessive [RCV000381094]|not specified [RCV000145347] |
Chr2:127062201 [GRCh38]
Chr2:127819777 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.858-12C>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000323294]|Centronuclear Myopathy, Recessive [RCV000323294]|not specified [RCV000145348] |
Chr2:127059167 [GRCh38]
Chr2:127816743 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.957C>A (p.Ala319=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000145351] |
Chr2:127059056 [GRCh38]
Chr2:127816632 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.957C>G (p.Ala319=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000145352] |
Chr2:127059056 [GRCh38]
Chr2:127816632 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1362G>T (p.Gly454=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000309589]|Centronuclear Myopathy, Recessive [RCV000309589]|not specified [RCV000145336] |
Chr2:127052264 [GRCh38]
Chr2:127809840 [GRCh37]
Chr2:2q14.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.1461C>T (p.Ser487=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000145337] |
Chr2:127051154 [GRCh38]
Chr2:127808730 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000404410]|Centronuclear Myopathy, Recessive [RCV000404410]|not specified [RCV000145338] |
Chr2:127050500 [GRCh38]
Chr2:127808076 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000553563]|not specified [RCV000145339] |
Chr2:127050470 [GRCh38]
Chr2:127808046 [GRCh37]
Chr2:2q14.3 |
benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.30G>A (p.Thr10=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000145342]|Centronuclear Myopathy, Recessive [RCV000394790]|not provided [RCV000724179]|not specified [RCV000173567] |
Chr2:127106914 [GRCh38]
Chr2:127864490 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.486T>C (p.Thr162=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000349850]|Centronuclear Myopathy, Recessive [RCV000349850]|not specified [RCV000145343] |
Chr2:127068957 [GRCh38]
Chr2:127826533 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000529083]|not provided [RCV000514580]|not specified [RCV000145344] |
Chr2:127063935 [GRCh38]
Chr2:127821511 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.714C>T (p.Tyr238=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000288997]|Centronuclear Myopathy, Recessive [RCV000288997]|not specified [RCV000145346] |
Chr2:127063631 [GRCh38]
Chr2:127821207 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.888C>T (p.Ser296=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000284692]|Centronuclear Myopathy, Recessive [RCV000284692]|not specified [RCV000145349] |
Chr2:127059125 [GRCh38]
Chr2:127816701 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.894G>A (p.Ser298=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000376667]|Centronuclear Myopathy, Recessive [RCV000376667]|not specified [RCV000145350] |
Chr2:127059119 [GRCh38]
Chr2:127816695 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.957C>T (p.Ala319=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000319647]|Centronuclear Myopathy, Recessive [RCV000319647]|not specified [RCV000145353] |
Chr2:127059056 [GRCh38]
Chr2:127816632 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 |
copy number loss |
See cases [RCV000135455] |
Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3 |
pathogenic |
| GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 |
copy number loss |
See cases [RCV000136714] |
Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1 |
pathogenic |
| GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 |
copy number loss |
See cases [RCV000137467] |
Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1 |
likely pathogenic |
| GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 |
copy number gain |
See cases [RCV000138369] |
Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1 |
uncertain significance |
| GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 |
copy number loss |
See cases [RCV000141584] |
Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3 |
pathogenic |
| NM_139343.3(BIN1):c.1263+11C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000312988]|Centronuclear Myopathy, Recessive [RCV000312988]|not specified [RCV000192807] |
Chr2:127053411 [GRCh38]
Chr2:127810987 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.1473T>C (p.Pro491=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000406360]|Centronuclear Myopathy, Recessive [RCV000406360] |
Chr2:127050901 [GRCh38]
Chr2:127808477 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.384G>A (p.Thr128=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000403883]|Centronuclear Myopathy, Recessive [RCV000403883]|not specified [RCV000610549] |
Chr2:127070022 [GRCh38]
Chr2:127827598 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000262446]|Centronuclear Myopathy, Recessive [RCV000262446]|not specified [RCV000442714] |
Chr2:127059052 [GRCh38]
Chr2:127816628 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1132-22TGC[7] |
microsatellite |
Autosomal recessive centronuclear myopathy [RCV000277662]|Centronuclear Myopathy, Recessive [RCV000277662] |
Chr2:127054017..127054019 [GRCh38]
Chr2:127811593..127811595 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1515C>G (p.Thr505=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000286271]|Centronuclear Myopathy, Recessive [RCV000286271] |
Chr2:127050859 [GRCh38]
Chr2:127808435 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.681G>A (p.Leu227=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000384474]|Centronuclear Myopathy, Recessive [RCV000384474] |
Chr2:127063950 [GRCh38]
Chr2:127821526 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1328C>T (p.Ala443Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000366610]|Centronuclear Myopathy, Recessive [RCV000366610] |
Chr2:127052298 [GRCh38]
Chr2:127809874 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1143G>A (p.Pro381=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000370019]|Centronuclear Myopathy, Recessive [RCV000370019]|not specified [RCV000602053] |
Chr2:127054001 [GRCh38]
Chr2:127811577 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.903T>C (p.Asp301=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000544828] |
Chr2:127059110 [GRCh38]
Chr2:127816686 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000754843] |
Chr2:127063645 [GRCh38]
Chr2:127821221 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_139343.3(BIN1):c.330G>A (p.Leu110=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000314987]|Centronuclear Myopathy, Recessive [RCV000314987] |
Chr2:127070076 [GRCh38]
Chr2:127827652 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.84+9G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000334262]|Centronuclear Myopathy, Recessive [RCV000334262] |
Chr2:127106851 [GRCh38]
Chr2:127864427 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1479C>T (p.Val493=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000343605]|Centronuclear Myopathy, Recessive [RCV000343605] |
Chr2:127050895 [GRCh38]
Chr2:127808471 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1131+9C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000316364]|Centronuclear Myopathy, Recessive [RCV000316364] |
Chr2:127057464 [GRCh38]
Chr2:127815040 [GRCh37]
Chr2:2q14.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.3(BIN1):c.1727A>T (p.Glu576Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000341221]|Centronuclear Myopathy, Recessive [RCV000341221] |
Chr2:127048581 [GRCh38]
Chr2:127806157 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1047G>A (p.Pro349=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000354884]|Centronuclear Myopathy, Recessive [RCV000354884] |
Chr2:127057557 [GRCh38]
Chr2:127815133 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1573-18G>C |
single nucleotide variant |
not specified [RCV000248429] |
Chr2:127050540 [GRCh38]
Chr2:127808116 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.316-19G>A |
single nucleotide variant |
not specified [RCV000253636] |
Chr2:127070109 [GRCh38]
Chr2:127827685 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1003-15G>A |
single nucleotide variant |
not specified [RCV000244281] |
Chr2:127057616 [GRCh38]
Chr2:127815192 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.630C>T (p.Ile210=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636921]|not specified [RCV000241976] |
Chr2:127064001 [GRCh38]
Chr2:127821577 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1264-8G>A |
single nucleotide variant |
not specified [RCV000249507] |
Chr2:127052370 [GRCh38]
Chr2:127809946 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636918]|not specified [RCV000254301] |
Chr2:127052334 [GRCh38]
Chr2:127809910 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.1131+18C>T |
single nucleotide variant |
not specified [RCV000247438] |
Chr2:127057455 [GRCh38]
Chr2:127815031 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.-27C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000299689]|Centronuclear Myopathy, Recessive [RCV000299689]|not specified [RCV000252497] |
Chr2:127106970 [GRCh38]
Chr2:127864546 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.906C>T (p.Gly302=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636914]|not specified [RCV000252539] |
Chr2:127059107 [GRCh38]
Chr2:127816683 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.402C>T (p.Pro134=) |
single nucleotide variant |
not specified [RCV000245446] |
Chr2:127070004 [GRCh38]
Chr2:127827580 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_001320634.1(BIN1):c.*501G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000272775]|Centronuclear Myopathy, Recessive [RCV000272775] |
Chr2:127048025 [GRCh38]
Chr2:127805601 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.699-13C>T |
single nucleotide variant |
not specified [RCV000250699] |
Chr2:127063659 [GRCh38]
Chr2:127821235 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1587C>T (p.His529=) |
single nucleotide variant |
not specified [RCV000253210] |
Chr2:127050508 [GRCh38]
Chr2:127808084 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.*82C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000375956]|Centronuclear Myopathy, Recessive [RCV000375956] |
Chr2:127048444 [GRCh38]
Chr2:127806020 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.-163T>C |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000303136]|Centronuclear Myopathy, Recessive [RCV000303136] |
Chr2:127107106 [GRCh38]
Chr2:127864682 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.*194C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000318845]|Centronuclear Myopathy, Recessive [RCV000318845] |
Chr2:127048332 [GRCh38]
Chr2:127805908 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.*449G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000368573]|Centronuclear Myopathy, Recessive [RCV000368573] |
Chr2:127048077 [GRCh38]
Chr2:127805653 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.2(BIN1):c.-314G>C |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000329240]|Centronuclear Myopathy, Recessive [RCV000329240] |
Chr2:127107257 [GRCh38]
Chr2:127864833 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1371+1G>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000312478] |
Chr2:127052254 [GRCh38]
Chr2:127809830 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| NM_139343.3(BIN1):c.*479del |
deletion |
Autosomal recessive centronuclear myopathy [RCV000330205]|Centronuclear Myopathy, Recessive [RCV000330205] |
Chr2:127048047 [GRCh38]
Chr2:127805623 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1353C>T (p.Ala451=) |
single nucleotide variant |
not specified [RCV000338571] |
Chr2:127052273 [GRCh38]
Chr2:127809849 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.924C>T (p.Pro308=) |
single nucleotide variant |
not provided [RCV000726110]|not specified [RCV000372979] |
Chr2:127059089 [GRCh38]
Chr2:127816665 [GRCh37]
Chr2:2q14.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_139343.2(BIN1):c.-272G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000271831]|Centronuclear Myopathy, Recessive [RCV000271831] |
Chr2:127107215 [GRCh38]
Chr2:127864791 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000660519]|not specified [RCV000352599] |
Chr2:127050518 [GRCh38]
Chr2:127808094 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.-114del |
deletion |
Autosomal recessive centronuclear myopathy [RCV000264305]|Centronuclear Myopathy, Recessive [RCV000264305] |
Chr2:127107057 [GRCh38]
Chr2:127864633 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.*413G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000276421]|Centronuclear Myopathy, Recessive [RCV000276421] |
Chr2:127048113 [GRCh38]
Chr2:127805689 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1003-16C>T |
single nucleotide variant |
not specified [RCV000291039] |
Chr2:127057617 [GRCh38]
Chr2:127815193 [GRCh37]
Chr2:2q14.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_139343.3(BIN1):c.1060A>G (p.Lys354Glu) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636912]|not specified [RCV000325514] |
Chr2:127057544 [GRCh38]
Chr2:127815120 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.715G>A (p.Val239Ile) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000546175]|not provided [RCV000726561]|not specified [RCV000263329] |
Chr2:127063630 [GRCh38]
Chr2:127821206 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) |
single nucleotide variant |
not provided [RCV000725377]|not specified [RCV000366677] |
Chr2:127053990 [GRCh38]
Chr2:127811566 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.-192G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000267839]|Centronuclear Myopathy, Recessive [RCV000267839] |
Chr2:127107135 [GRCh38]
Chr2:127864711 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.*214G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000280095]|Centronuclear Myopathy, Recessive [RCV000280095] |
Chr2:127048312 [GRCh38]
Chr2:127805888 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_139343.3(BIN1):c.1139C>T (p.Ala380Val) |
single nucleotide variant |
not specified [RCV000523861] |
Chr2:127054005 [GRCh38]
Chr2:127811581 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.613-5C>G |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000555336] |
Chr2:127064023 [GRCh38]
Chr2:127821599 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.679C>G (p.Leu227Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000292621]|Centronuclear Myopathy, Recessive [RCV000292621] |
Chr2:127063952 [GRCh38]
Chr2:127821528 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.2(BIN1):c.-214T>G |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000382584]|Centronuclear Myopathy, Recessive [RCV000382584] |
Chr2:127107157 [GRCh38]
Chr2:127864733 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.2(BIN1):c.-389T>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000336665]|Centronuclear Myopathy, Recessive [RCV000336665] |
Chr2:127107332 [GRCh38]
Chr2:127864908 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.*55G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000283741]|Centronuclear Myopathy, Recessive [RCV000283741] |
Chr2:127048471 [GRCh38]
Chr2:127806047 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.*301C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000334087]|Centronuclear Myopathy, Recessive [RCV000334087] |
Chr2:127048225 [GRCh38]
Chr2:127805801 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.2(BIN1):c.-366C>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000385865]|Centronuclear Myopathy, Recessive [RCV000385865] |
Chr2:127107309 [GRCh38]
Chr2:127864885 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.*243T>G |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000372371]|Centronuclear Myopathy, Recessive [RCV000372371] |
Chr2:127048283 [GRCh38]
Chr2:127805859 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.-197C>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000325664]|Centronuclear Myopathy, Recessive [RCV000325664] |
Chr2:127107140 [GRCh38]
Chr2:127864716 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.-62G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000356829]|Centronuclear Myopathy, Recessive [RCV000356829] |
Chr2:127107005 [GRCh38]
Chr2:127864581 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1322C>T (p.Thr441Ile) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000395082]|Centronuclear Myopathy, Recessive [RCV000395082] |
Chr2:127052304 [GRCh38]
Chr2:127809880 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.-177_-174dup |
duplication |
Autosomal recessive centronuclear myopathy [RCV000360110]|Centronuclear Myopathy, Recessive [RCV000360110] |
Chr2:127107117..127107120 [GRCh38]
Chr2:127864693..127864696 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1111A>G (p.Ser371Gly) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000532874] |
Chr2:127057493 [GRCh38]
Chr2:127815069 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1611C>T (p.Asp537=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000538787]|not specified [RCV000609834] |
Chr2:127050484 [GRCh38]
Chr2:127808060 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.858-5C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000560847]|not specified [RCV000602308] |
Chr2:127059160 [GRCh38]
Chr2:127816736 [GRCh37]
Chr2:2q14.3 |
benign|likely benign |
| NM_139343.3(BIN1):c.279T>C (p.Asp93=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000542004] |
Chr2:127070589 [GRCh38]
Chr2:127828165 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.858-1466T>C |
single nucleotide variant |
not specified [RCV000444908] |
Chr2:127060621 [GRCh38]
Chr2:127818197 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.416G>A (p.Arg139His) |
single nucleotide variant |
not specified [RCV000431154] |
Chr2:127069027 [GRCh38]
Chr2:127826603 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) |
single nucleotide variant |
not specified [RCV000445206] |
Chr2:127059088 [GRCh38]
Chr2:127816664 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1003-11C>G |
single nucleotide variant |
not specified [RCV000431662] |
Chr2:127057612 [GRCh38]
Chr2:127815188 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.858-1462G>A |
single nucleotide variant |
not specified [RCV000442122] |
Chr2:127060617 [GRCh38]
Chr2:127818193 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.636C>T (p.Ala212=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636915]|not specified [RCV000428082] |
Chr2:127063995 [GRCh38]
Chr2:127821571 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1114G>A (p.Val372Met) |
single nucleotide variant |
not specified [RCV000435212] |
Chr2:127057490 [GRCh38]
Chr2:127815066 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1197G>A (p.Pro399=) |
single nucleotide variant |
not specified [RCV000421794] |
Chr2:127053947 [GRCh38]
Chr2:127811523 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1131+7C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000557755]|not specified [RCV000426182] |
Chr2:127057466 [GRCh38]
Chr2:127815042 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.*1C>T |
single nucleotide variant |
not specified [RCV000440299] |
Chr2:127048525 [GRCh38]
Chr2:127806101 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000697587]|not specified [RCV000420208] |
Chr2:127062167 [GRCh38]
Chr2:127819743 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| NM_139343.3(BIN1):c.1264-11_1270del |
deletion |
Autosomal recessive centronuclear myopathy [RCV000546274]|not provided [RCV000724730]|not specified [RCV000484415] |
Chr2:127052356..127052373 [GRCh38]
Chr2:127809932..127809949 [GRCh37]
Chr2:2q14.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) |
single nucleotide variant |
not specified [RCV000487008] |
Chr2:127059120 [GRCh38]
Chr2:127816696 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.315+5_315+6delinsAG |
indel |
not specified [RCV000479062] |
Chr2:127070547..127070548 [GRCh38]
Chr2:127828123..127828124 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1002+2T>C |
single nucleotide variant |
not provided [RCV000498774] |
Chr2:127059009 [GRCh38]
Chr2:127816585 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_139343.3(BIN1):c.1397_1414del (p.Gly466_Ala471del) |
deletion |
not specified [RCV000492879] |
Chr2:127051201..127051218 [GRCh38]
Chr2:127808777..127808794 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_139343.3(BIN1):c.85-5G>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636906] |
Chr2:127076711 [GRCh38]
Chr2:127834287 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.85-6C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636919] |
Chr2:127076712 [GRCh38]
Chr2:127834288 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.702C>T (p.Arg234=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636922] |
Chr2:127063643 [GRCh38]
Chr2:127821219 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NC_000002.11:g.(?_127821127)_(127834302_?)dup |
duplication |
Autosomal recessive centronuclear myopathy [RCV000636923] |
Chr2:127063551..127076726 [GRCh38]
Chr2:127821127..127834302 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000535586] |
Chr2:127051176 [GRCh38]
Chr2:127808752 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.9G>C (p.Glu3Asp) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000559491] |
Chr2:127106935 [GRCh38]
Chr2:127864511 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.775-9C>T |
single nucleotide variant |
not specified [RCV000602432] |
Chr2:127062206 [GRCh38]
Chr2:127819782 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.839C>T (p.Thr280Met) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636908] |
Chr2:127062133 [GRCh38]
Chr2:127819709 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.698+9C>T |
single nucleotide variant |
not specified [RCV000609715] |
Chr2:127063924 [GRCh38]
Chr2:127821500 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.775-13G>T |
single nucleotide variant |
not specified [RCV000615175] |
Chr2:127062210 [GRCh38]
Chr2:127819786 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.858-1421C>T |
single nucleotide variant |
not specified [RCV000615196] |
Chr2:127060576 [GRCh38]
Chr2:127818152 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.698+14C>T |
single nucleotide variant |
not specified [RCV000612577] |
Chr2:127063919 [GRCh38]
Chr2:127821495 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.84+15G>T |
single nucleotide variant |
not specified [RCV000612804] |
Chr2:127106845 [GRCh38]
Chr2:127864421 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1573-14C>T |
single nucleotide variant |
not specified [RCV000610318] |
Chr2:127050536 [GRCh38]
Chr2:127808112 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.-7C>T |
single nucleotide variant |
not specified [RCV000608098] |
Chr2:127106950 [GRCh38]
Chr2:127864526 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1264-5A>C |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000558619] |
Chr2:127052367 [GRCh38]
Chr2:127809943 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
PARP Inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| NM_139343.3(BIN1):c.471C>T (p.Tyr157=) |
single nucleotide variant |
not specified [RCV000606200] |
Chr2:127068972 [GRCh38]
Chr2:127826548 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.221-8C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636903] |
Chr2:127070655 [GRCh38]
Chr2:127828231 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.767T>C (p.Met256Thr) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636905] |
Chr2:127063578 [GRCh38]
Chr2:127821154 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.472G>A (p.Glu158Lys) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636907] |
Chr2:127068971 [GRCh38]
Chr2:127826547 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.857+4C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636909] |
Chr2:127062111 [GRCh38]
Chr2:127819687 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636910] |
Chr2:127050507 [GRCh38]
Chr2:127808083 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636911] |
Chr2:127052344 [GRCh38]
Chr2:127809920 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.213C>T (p.Ser71=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636913] |
Chr2:127070769 [GRCh38]
Chr2:127828345 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1629T>G (p.Ala543=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636916] |
Chr2:127050466 [GRCh38]
Chr2:127808042 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.864C>T (p.Asn288=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636917] |
Chr2:127059149 [GRCh38]
Chr2:127816725 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1359G>A (p.Pro453=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000636920] |
Chr2:127052267 [GRCh38]
Chr2:127809843 [GRCh37]
Chr2:2q14.3 |
likely benign |
| GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 |
copy number loss |
See cases [RCV000512348] |
Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1 |
pathogenic |
| NM_139343.3(BIN1):c.1003-6C>A |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000701181] |
Chr2:127057607 [GRCh38]
Chr2:127815183 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000701208] |
Chr2:127048567 [GRCh38]
Chr2:127806143 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.822C>T (p.His274=) |
single nucleotide variant |
not provided [RCV000710737] |
Chr2:127062150 [GRCh38]
Chr2:127819726 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000707242] |
Chr2:127057558 [GRCh38]
Chr2:127815134 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1328C>G (p.Ala443Gly) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000688764] |
Chr2:127052298 [GRCh38]
Chr2:127809874 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1132-2A>G |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000686184] |
Chr2:127054014 [GRCh38]
Chr2:127811590 [GRCh37]
Chr2:2q14.3 |
likely pathogenic |
| NM_139343.3(BIN1):c.1462-3C>T |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000700693] |
Chr2:127050915 [GRCh38]
Chr2:127808491 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000694980] |
Chr2:127054006 [GRCh38]
Chr2:127811582 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.519+4A>G |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000697627] |
Chr2:127068920 [GRCh38]
Chr2:127826496 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.393C>T (p.Gly131=) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000695525] |
Chr2:127070013 [GRCh38]
Chr2:127827589 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1747G>A (p.Val583Ile) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000702936] |
Chr2:127048561 [GRCh38]
Chr2:127806137 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NC_000002.11:g.(?_127815029)_(127864539_?)dup |
duplication |
Autosomal recessive centronuclear myopathy [RCV000707869] |
Chr2:127057453..127106963 [GRCh38]
Chr2:127815029..127864539 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| Single allele |
inversion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3 |
likely pathogenic |
| NM_139343.3(BIN1):c.380_381AC[3] (p.Tyr129fs) |
microsatellite |
Autosomal recessive centronuclear myopathy [RCV000687106] |
Chr2:127070023..127070024 [GRCh38]
Chr2:127827599..127827600 [GRCh37]
Chr2:2q14.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000754844] |
Chr2:127069010 [GRCh38]
Chr2:127826586 [GRCh37]
Chr2:2q14.3 |
pathogenic|likely pathogenic |
| NM_139343.3(BIN1):c.1131+268C>T |
single nucleotide variant |
not provided [RCV000826800] |
Chr2:127057205 [GRCh38]
Chr2:127814781 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1371+322T>G |
single nucleotide variant |
not provided [RCV000827840] |
Chr2:127051933 [GRCh38]
Chr2:127809509 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1371+323A>C |
single nucleotide variant |
not provided [RCV000827841] |
Chr2:127051932 [GRCh38]
Chr2:127809508 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1132-6_1132-4dup |
duplication |
Autosomal recessive centronuclear myopathy [RCV000819593] |
Chr2:127054016..127054018 [GRCh38]
Chr2:127811591..127811592 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.286G>A (p.Gly96Ser) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000819262] |
Chr2:127070582 [GRCh38]
Chr2:127828158 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.857+180G>A |
single nucleotide variant |
not provided [RCV000837705] |
Chr2:127061935 [GRCh38]
Chr2:127819511 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1002+163T>C |
single nucleotide variant |
not provided [RCV000837720] |
Chr2:127058848 [GRCh38]
Chr2:127816424 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1573-72C>T |
single nucleotide variant |
not provided [RCV000837721] |
Chr2:127050594 [GRCh38]
Chr2:127808170 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1573-63C>T |
single nucleotide variant |
not provided [RCV000837722] |
Chr2:127050585 [GRCh38]
Chr2:127808161 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1674+56G>A |
single nucleotide variant |
not provided [RCV000837723] |
Chr2:127050365 [GRCh38]
Chr2:127807941 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1240-21C>T |
single nucleotide variant |
not provided [RCV000837845] |
Chr2:127053466 [GRCh38]
Chr2:127811042 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1372-90C>T |
single nucleotide variant |
not provided [RCV000837846] |
Chr2:127051333 [GRCh38]
Chr2:127808909 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1462-44C>T |
single nucleotide variant |
not provided [RCV000837847] |
Chr2:127050956 [GRCh38]
Chr2:127808532 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1573-128T>A |
single nucleotide variant |
not provided [RCV000837848] |
Chr2:127050650 [GRCh38]
Chr2:127808226 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.412-226C>T |
single nucleotide variant |
not provided [RCV000839768] |
Chr2:127069257 [GRCh38]
Chr2:127826833 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.698+57G>A |
single nucleotide variant |
not provided [RCV000839769] |
Chr2:127063876 [GRCh38]
Chr2:127821452 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.84+236G>T |
single nucleotide variant |
not provided [RCV000839825] |
Chr2:127106624 [GRCh38]
Chr2:127864200 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.85-87G>A |
single nucleotide variant |
not provided [RCV000839826] |
Chr2:127076793 [GRCh38]
Chr2:127834369 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1132-91C>G |
single nucleotide variant |
not provided [RCV000839941] |
Chr2:127054103 [GRCh38]
Chr2:127811679 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1132-186G>A |
single nucleotide variant |
not provided [RCV000840017] |
Chr2:127054198 [GRCh38]
Chr2:127811774 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1003-61C>T |
single nucleotide variant |
not provided [RCV000830914] |
Chr2:127057662 [GRCh38]
Chr2:127815238 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1132-222G>A |
single nucleotide variant |
not provided [RCV000830915] |
Chr2:127054234 [GRCh38]
Chr2:127811810 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000822221] |
Chr2:127053963 [GRCh38]
Chr2:127811539 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.85-298C>G |
single nucleotide variant |
not provided [RCV000826798] |
Chr2:127077004 [GRCh38]
Chr2:127834580 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.866C>T (p.Ala289Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000817171] |
Chr2:127059147 [GRCh38]
Chr2:127816723 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.857+22G>A |
single nucleotide variant |
not provided [RCV000837246] |
Chr2:127062093 [GRCh38]
Chr2:127819669 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1131+273C>T |
single nucleotide variant |
not provided [RCV000827838] |
Chr2:127057200 [GRCh38]
Chr2:127814776 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.519+241T>C |
single nucleotide variant |
not provided [RCV000837825] |
Chr2:127068683 [GRCh38]
Chr2:127826259 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.520-137C>T |
single nucleotide variant |
not provided [RCV000837826] |
Chr2:127068392 [GRCh38]
Chr2:127825968 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.613-245C>G |
single nucleotide variant |
not provided [RCV000837827] |
Chr2:127064263 [GRCh38]
Chr2:127821839 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.698+56C>T |
single nucleotide variant |
not provided [RCV000837828] |
Chr2:127063877 [GRCh38]
Chr2:127821453 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.774+62G>A |
single nucleotide variant |
not provided [RCV000837829] |
Chr2:127063509 [GRCh38]
Chr2:127821085 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.858-1290G>A |
single nucleotide variant |
not provided [RCV000837830] |
Chr2:127060445 [GRCh38]
Chr2:127818021 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1132-126_1132-125dup |
duplication |
not provided [RCV000837831] |
Chr2:127054136..127054137 [GRCh38]
Chr2:127811712..127811713 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1205C>T (p.Thr402Met) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000803034] |
Chr2:127053939 [GRCh38]
Chr2:127811515 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1541G>A (p.Arg514His) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000803312] |
Chr2:127050833 [GRCh38]
Chr2:127808409 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1002+51C>T |
single nucleotide variant |
not provided [RCV000830912] |
Chr2:127058960 [GRCh38]
Chr2:127816536 [GRCh37]
Chr2:2q14.3 |
benign |
| NC_000002.12:g.127107346G>C |
single nucleotide variant |
not provided [RCV000839562] |
Chr2:127107346 [GRCh38]
Chr2:127864922 [GRCh37]
Chr2:2q14.3 |
benign |
| NC_000002.12:g.127107345C>G |
single nucleotide variant |
not provided [RCV000839563] |
Chr2:127107345 [GRCh38]
Chr2:127864921 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1131+214A>G |
single nucleotide variant |
not provided [RCV000839776] |
Chr2:127057259 [GRCh38]
Chr2:127814835 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1729C>G (p.Leu577Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000824428] |
Chr2:127048579 [GRCh38]
Chr2:127806155 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.85-177A>G |
single nucleotide variant |
not provided [RCV000837700] |
Chr2:127076883 [GRCh38]
Chr2:127834459 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.85-102A>G |
single nucleotide variant |
not provided [RCV000837701] |
Chr2:127076808 [GRCh38]
Chr2:127834384 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.165+66A>G |
single nucleotide variant |
not provided [RCV000837702] |
Chr2:127076560 [GRCh38]
Chr2:127834136 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.165+239G>A |
single nucleotide variant |
not provided [RCV000837703] |
Chr2:127076387 [GRCh38]
Chr2:127833963 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.412-25T>C |
single nucleotide variant |
not provided [RCV000837704] |
Chr2:127069056 [GRCh38]
Chr2:127826632 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.857+1285C>T |
single nucleotide variant |
not provided [RCV000837706] |
Chr2:127060830 [GRCh38]
Chr2:127818406 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1263+301G>A |
single nucleotide variant |
not provided [RCV000827839] |
Chr2:127053121 [GRCh38]
Chr2:127810697 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1573-29G>C |
single nucleotide variant |
not provided [RCV000830916] |
Chr2:127050551 [GRCh38]
Chr2:127808127 [GRCh37]
Chr2:2q14.3 |
benign |
| NC_000002.12:g.127107528C>T |
single nucleotide variant |
not provided [RCV000831057] |
Chr2:127107528 [GRCh38]
Chr2:127865104 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.173G>T (p.Gly58Val) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000794378] |
Chr2:127070809 [GRCh38]
Chr2:127828385 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NC_000002.12:g.127107524G>A |
single nucleotide variant |
not provided [RCV000826797] |
Chr2:127107524 [GRCh38]
Chr2:127865100 [GRCh37]
Chr2:2q14.3 |
benign |
| NC_000002.11:g.(?_127806092)_(127834292_?)dup |
duplication |
Autosomal recessive centronuclear myopathy [RCV000812689] |
Chr2:127048516..127076716 [GRCh38]
Chr2:127806092..127834292 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.857+134G>T |
single nucleotide variant |
not provided [RCV000837018] |
Chr2:127061981 [GRCh38]
Chr2:127819557 [GRCh37]
Chr2:2q14.3 |
likely benign |
| NM_139343.3(BIN1):c.1002+112T>C |
single nucleotide variant |
not provided [RCV000830913] |
Chr2:127058899 [GRCh38]
Chr2:127816475 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1674+143G>A |
single nucleotide variant |
not provided [RCV000830917] |
Chr2:127050278 [GRCh38]
Chr2:127807854 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.85-246G>A |
single nucleotide variant |
not provided [RCV000837699] |
Chr2:127076952 [GRCh38]
Chr2:127834528 [GRCh37]
Chr2:2q14.3 |
benign |
| NM_139343.3(BIN1):c.1147C>T (p.Pro383Ser) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000794777] |
Chr2:127053997 [GRCh38]
Chr2:127811573 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.460C>T (p.Arg154Trp) |
single nucleotide variant |
Autosomal recessive centronuclear myopathy [RCV000811248] |
Chr2:127068983 [GRCh38]
Chr2:127826559 [GRCh37]
Chr2:2q14.3 |
uncertain significance |
| NM_139343.3(BIN1):c.1131+324T>C |
single nucleotide variant |
not provided [RCV000826801] |
Chr2:127057149 [GRCh38]
Chr2:127814725 [GRCh37]
Chr2:2q14.3 |
benign |
| NC_000002.12:g.127057897del |
deletion |
not provided [RCV000826799] |
Chr2:2q14.3 |
benign |
Gene-Chemical Interaction Annotations
