| NM_181703.4(GJA5):c.145C>T (p.Gln49Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000022512] |
Chr1:147759094 [GRCh38]
Chr1:147231202 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_181703.4(GJA5):c.253G>A (p.Val85Ile) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000022513] |
Chr1:147758986 [GRCh38]
Chr1:147231094 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_181703.4(GJA5):c.661C>A (p.Leu221Ile) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000022514] |
Chr1:147758578 [GRCh38]
Chr1:147230686 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_181703.4(GJA5):c.262C>T (p.Pro88Ser) |
single nucleotide variant |
Atrial fibrillation, somatic [RCV000018522] |
Chr1:147758977 [GRCh38]
Chr1:147231085 [GRCh37]
Chr1:1q21.2 |
pathogenic|other |
| NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) |
single nucleotide variant |
Atrial fibrillation [RCV004772830]|Atrial fibrillation, familial, 11 [RCV000018521]|Atrial standstill 1 [RCV001063672]|not provided [RCV000487058] |
Chr1:147758953 [GRCh38]
Chr1:147231061 [GRCh37]
Chr1:1q21.2 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207) |
copy number gain |
Optic atrophy [RCV000626498] |
Chr1:146618988..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.685C>A (p.Leu229Met) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000022515] |
Chr1:147758554 [GRCh38]
Chr1:147230662 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_181703.4(GJA5):c.223A>T (p.Ile75Phe) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000114757]|Atrial standstill 1 [RCV002515789] |
Chr1:147759016 [GRCh38]
Chr1:147231124 [GRCh37]
Chr1:1q21.2 |
pathogenic|uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:147035964-148359881)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050346]|See cases [RCV000050346] |
Chr1:147035964..148359881 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 |
copy number loss |
See cases [RCV000050278] |
Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3 |
copy number gain |
See cases [RCV000050299] |
Chr1:147756734..147776466 [GRCh38]
Chr1:147228867..147248577 [GRCh37]
Chr1:145695491..145715201 [NCBI36]
Chr1:1q21.2 |
uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000050868] |
Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3 |
copy number gain |
See cases [RCV000050917] |
Chr1:146987841..148234205 [GRCh38]
Chr1:145987156..147411593 [GRCh37]
Chr1:144698513..145878217 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 |
copy number gain |
See cases [RCV000050515] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 |
copy number loss |
See cases [RCV000050516] |
Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000050688] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x1 |
copy number loss |
Global developmental delay [RCV000050689]|See cases [RCV000050689] |
Chr1:145232830..148587578 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 |
copy number loss |
See cases [RCV000050634] |
Chr1:146354110..148503773 [GRCh38]
Chr1:146143189..149699420 [GRCh37]
Chr1:144854546..147966044 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 |
copy number gain |
See cases [RCV000051109] |
Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 |
copy number gain |
See cases [RCV000051058] |
Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x1 |
copy number loss |
Nonsyndromic microcephaly [RCV000051059]|Expressive language delay [RCV000051060]|Global developmental delay [RCV000051061]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|See cases [RCV000051059] |
Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] |
Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 |
copy number loss |
See cases [RCV000052252] |
Chr1:146987841..148437125 [GRCh38]
Chr1:145986956..147909235 [GRCh37]
Chr1:144698313..146375859 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1 |
copy number loss |
See cases [RCV000052262] |
Chr1:146987841..148436925 [GRCh38]
Chr1:145987156..147909035 [GRCh37]
Chr1:144698513..146375659 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 |
copy number loss |
See cases [RCV000052264] |
Chr1:146987841..148328747 [GRCh38]
Chr1:146079197..147800872 [GRCh37]
Chr1:144790554..146267496 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 |
copy number loss |
See cases [RCV000052267] |
Chr1:146987841..148328747 [GRCh38]
Chr1:146083024..147800872 [GRCh37]
Chr1:144794381..146267496 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1 |
copy number loss |
See cases [RCV000052269] |
Chr1:146987841..148444397 [GRCh38]
Chr1:146096433..147916499 [GRCh37]
Chr1:144807790..146383123 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 |
copy number loss |
See cases [RCV000052271] |
Chr1:146987841..148234205 [GRCh38]
Chr1:146096433..147400685 [GRCh37]
Chr1:144807790..145867309 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 |
copy number loss |
See cases [RCV000052272] |
Chr1:146987841..148328747 [GRCh38]
Chr1:146096433..147800872 [GRCh37]
Chr1:144807790..146267496 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x3 |
copy number gain |
See cases [RCV000052276] |
Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 |
copy number loss |
See cases [RCV000052277] |
Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 |
copy number gain |
See cases [RCV000052282] |
Chr1:146987841..148359881 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 |
copy number loss |
See cases [RCV000052283] |
Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 |
copy number loss |
See cases [RCV000052244] |
Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|See cases [RCV000052245] |
Chr1:146987841..148437125 [GRCh38]
Chr1:145655792..147909235 [GRCh37]
Chr1:144367149..146375859 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 |
copy number loss |
See cases [RCV000052247] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 |
copy number loss |
See cases [RCV000052248] |
Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147029419-148167468)x1 |
copy number loss |
See cases [RCV000052299] |
Chr1:147029419..148167468 [GRCh38]
Chr1:146500972..147711813 [GRCh37]
Chr1:144967596..146178437 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147029419-148342687)x1 |
copy number loss |
See cases [RCV000052303] |
Chr1:147029419..148342687 [GRCh38]
Chr1:146500972..147814815 [GRCh37]
Chr1:144967596..146281439 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 |
copy number loss |
See cases [RCV000052306] |
Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] |
Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] |
Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 |
copy number gain |
See cases [RCV000053185] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3 |
copy number gain |
See cases [RCV000053186] |
Chr1:146987841..148492647 [GRCh38]
Chr1:145764367..147988684 [GRCh37]
Chr1:144475724..146455308 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 |
copy number gain |
See cases [RCV000053187] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000053191] |
Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3 |
copy number gain |
See cases [RCV000053192] |
Chr1:146987841..148287692 [GRCh38]
Chr1:146083023..147759798 [GRCh37]
Chr1:144794380..146226422 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3 |
copy number gain |
See cases [RCV000053193] |
Chr1:146987841..148444397 [GRCh38]
Chr1:146083024..147916499 [GRCh37]
Chr1:144794381..146383123 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000053203] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147055789-148328747)x3 |
copy number gain |
See cases [RCV000053204] |
Chr1:147055789..148328747 [GRCh38]
Chr1:146527351..147800872 [GRCh37]
Chr1:144993975..146267496 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147099720-148273480)x3 |
copy number gain |
See cases [RCV000053205] |
Chr1:147099720..148273480 [GRCh38]
Chr1:146571304..147745610 [GRCh37]
Chr1:145037928..146212234 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 |
copy number gain |
See cases [RCV000053206] |
Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 |
copy number gain |
See cases [RCV000053170] |
Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 |
copy number loss |
See cases [RCV000053743] |
Chr1:146987841..148437125 [GRCh38]
Chr1:145425195..147909235 [GRCh37]
Chr1:144136552..146375859 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 |
copy number loss |
See cases [RCV000053699] |
Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1 |
copy number loss |
See cases [RCV000053725] |
Chr1:146987841..149343657 [GRCh38]
Chr1:144912271..147814815 [GRCh37]
Chr1:143623628..146281439 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 |
copy number loss |
See cases [RCV000053700] |
Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 |
copy number loss |
See cases [RCV000051059] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 |
copy number gain |
See cases [RCV000051832] |
Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146500972-147851297) |
copy number loss |
Aicardi syndrome [RCV001291972] |
Chr1:146500972..147851297 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x1 |
copy number loss |
See cases [RCV000133790] |
Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x3 |
copy number gain |
See cases [RCV000050346] |
Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 |
copy number loss |
See cases [RCV000050689] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 |
copy number gain |
See cases [RCV000133640] |
Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 |
copy number gain |
See cases [RCV000053172] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 |
copy number loss |
See cases [RCV000052242] |
Chr1:146987841..148234205 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 |
copy number loss |
See cases [RCV000134191] |
Chr1:146354110..148503773 [GRCh38]
Chr1:145388355..149418924 [GRCh37]
Chr1:144099712..147685548 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000134219] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146038914..147838700 [GRCh37]
Chr1:144750271..146305324 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147035964-148352079)x3 |
copy number gain |
See cases [RCV000133957] |
Chr1:147035964..148352079 [GRCh38]
Chr1:146507518..147824207 [GRCh37]
Chr1:144974142..146290831 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3 |
copy number gain |
See cases [RCV000134089] |
Chr1:146987841..148415560 [GRCh38]
Chr1:145899359..147887713 [GRCh37]
Chr1:144610716..146354337 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 |
copy number loss |
See cases [RCV000135335] |
Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3 |
copy number gain |
See cases [RCV000135345] |
Chr1:146355224..148494171 [GRCh38]
Chr1:145899339..148782879 [GRCh37]
Chr1:144610696..147049503 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 |
copy number gain |
See cases [RCV000135353] |
Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 |
copy number gain |
See cases [RCV000135740] |
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 |
copy number loss |
See cases [RCV000135741] |
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3 |
copy number gain |
See cases [RCV000135684] |
Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4 |
copy number gain |
See cases [RCV000135513] |
Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic|uncertain significance |
| GRCh38/hg38 1q21.2(chr1:147756534-147776607)x3 |
copy number gain |
See cases [RCV000135424] |
Chr1:147756534..147776607 [GRCh38]
Chr1:147228667..147248718 [GRCh37]
Chr1:145695291..145715342 [NCBI36]
Chr1:1q21.2 |
benign |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000135484] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146074031..147834140 [GRCh37]
Chr1:144785388..146300764 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3 |
copy number gain |
See cases [RCV000136532] |
Chr1:146355224..148503773 [GRCh38]
Chr1:145425395..149768855 [GRCh37]
Chr1:144136752..148035479 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 |
copy number gain |
See cases [RCV000135936] |
Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely benign |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 |
copy number gain |
See cases [RCV000136047] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 |
copy number gain |
See cases [RCV000136866] |
Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147335698-147909284)x3 |
copy number gain |
See cases [RCV000136720] |
Chr1:147335698..147909284 [GRCh38]
Chr1:146807433..147381411 [GRCh37]
Chr1:145274057..145848035 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 |
copy number gain |
See cases [RCV000137646] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000137559] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 |
copy number loss |
See cases [RCV000137435] |
Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 |
copy number loss |
See cases [RCV000137526] |
Chr1:146987841..148355961 [GRCh38]
Chr1:145655992..147828089 [GRCh37]
Chr1:144367349..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 |
copy number loss |
See cases [RCV000137600] |
Chr1:146987841..148355961 [GRCh38]
Chr1:145804679..147828089 [GRCh37]
Chr1:144516036..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 |
copy number loss |
See cases [RCV000137231] |
Chr1:146987841..148234205 [GRCh38]
Chr1:146143189..147721869 [GRCh37]
Chr1:144854546..146188493 [NCBI36]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 |
copy number loss |
See cases [RCV000138054] |
Chr1:146987841..148355961 [GRCh38]
Chr1:146053414..147828089 [GRCh37]
Chr1:144764771..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3 |
copy number gain |
See cases [RCV000137889] |
Chr1:147029419..148352079 [GRCh38]
Chr1:146500972..147824207 [GRCh37]
Chr1:144967596..146290831 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1 |
copy number loss |
See cases [RCV000137764] |
Chr1:147002657..148355961 [GRCh38]
Chr1:146474216..147828089 [GRCh37]
Chr1:144940840..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147071299-148355961)x1 |
copy number loss |
See cases [RCV000137947] |
Chr1:147071299..148355961 [GRCh38]
Chr1:146542843..147828089 [GRCh37]
Chr1:145009467..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 |
copy number loss |
See cases [RCV000138893] |
Chr1:146987841..148355961 [GRCh38]
Chr1:145723321..147828089 [GRCh37]
Chr1:144434678..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1 |
copy number loss |
See cases [RCV000138709] |
Chr1:146354110..148494217 [GRCh38]
Chr1:145626237..149453964 [GRCh37]
Chr1:144337594..147720588 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3 |
copy number gain |
See cases [RCV000138851] |
Chr1:147036093..148352084 [GRCh38]
Chr1:146507649..147824212 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:147156522-148352084)x3 |
copy number gain |
See cases [RCV000138854] |
Chr1:147156522..148352084 [GRCh38]
Chr1:146628101..147824212 [GRCh37]
Chr1:145094725..146290836 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 |
copy number gain |
See cases [RCV000138438] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1 |
copy number loss |
See cases [RCV000138516] |
Chr1:146987841..148352084 [GRCh38]
Chr1:145415156..147824212 [GRCh37]
Chr1:144126513..146290836 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3 |
copy number gain |
See cases [RCV000138637] |
Chr1:146987841..148352084 [GRCh38]
Chr1:145799556..147824212 [GRCh37]
Chr1:144510913..146290836 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 |
copy number gain |
See cases [RCV000138437] |
Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:147036155-147945622)x1 |
copy number loss |
See cases [RCV000139330] |
Chr1:147036155..147945622 [GRCh38]
Chr1:146507711..147417736 [GRCh37]
Chr1:144974335..145884360 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.2(chr1:147756263-147836927)x3 |
copy number gain |
See cases [RCV000139144] |
Chr1:147756263..147836927 [GRCh38]
Chr1:147228396..147309062 [GRCh37]
Chr1:145695020..145775686 [NCBI36]
Chr1:1q21.2 |
conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000139942] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147830830 [GRCh37]
Chr1:144816527..146297454 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145751815-148000664)x3 |
copy number gain |
See cases [RCV000140155] |
Chr1:145751815..148000664 [GRCh37]
Chr1:144463172..146467288 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 |
copy number loss |
See cases [RCV000139762] |
Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 |
copy number loss |
See cases [RCV000141206] |
Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000141344] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146053414..147860552 [GRCh37]
Chr1:144764771..146327176 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000140902] |
Chr1:146964168..148572213 [GRCh38]
Chr1:145932455..147385641 [GRCh37]
Chr1:144643812..145852265 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 |
copy number gain |
See cases [RCV000140695] |
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic|conflicting data from submitters |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 |
copy number loss |
See cases [RCV000140697] |
Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000141896] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147830830 [GRCh37]
Chr1:144813147..146297454 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000141980] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147844758 [GRCh37]
Chr1:144755070..146311382 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 |
copy number loss |
See cases [RCV000141747] |
Chr1:146105170..148016122 [GRCh37]
Chr1:144816527..146482746 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 |
copy number loss |
See cases [RCV000141560] |
Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 |
copy number loss |
See cases [RCV000141565] |
Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145888925-148020200)x1 |
copy number loss |
See cases [RCV000141688] |
Chr1:145888925..148020200 [GRCh37]
Chr1:144600282..146486824 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147036093-147909352)x1 |
copy number loss |
See cases [RCV000142425] |
Chr1:147036093..147909352 [GRCh38]
Chr1:146507649..147381479 [GRCh37]
Chr1:144974273..145848103 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 |
copy number loss |
See cases [RCV000142480] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3 |
copy number gain |
See cases [RCV000142509] |
Chr1:146354110..148503773 [GRCh38]
Chr1:145425395..149699420 [GRCh37]
Chr1:144136752..147966044 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 |
copy number loss |
See cases [RCV000142511] |
Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000142212] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146096701..147832190 [GRCh37]
Chr1:144808058..146298814 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000142030] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147897962 [GRCh37]
Chr1:144813147..146364586 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 |
copy number gain |
See cases [RCV000142100] |
Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147830830 [GRCh37]
Chr1:144969915..146297454 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3 |
copy number gain |
See cases [RCV000142102] |
Chr1:147016574..149087283 [GRCh38]
Chr1:146488131..147995251 [GRCh37]
Chr1:144954755..146461875 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 |
copy number gain |
See cases [RCV000142150] |
Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819294 [GRCh37]
Chr1:144969915..146285918 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147054748-148355961)x3 |
copy number gain |
See cases [RCV000142921] |
Chr1:147054748..148355961 [GRCh38]
Chr1:146526310..147828089 [GRCh37]
Chr1:144992934..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000142804] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1 |
copy number loss |
See cases [RCV000142561] |
Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000142666] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 |
copy number loss |
See cases [RCV000142798] |
Chr1:146987841..148355961 [GRCh38]
Chr1:145626237..147828089 [GRCh37]
Chr1:144337594..146294713 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3 |
copy number gain |
See cases [RCV000143372] |
Chr1:147026741..149087283 [GRCh38]
Chr1:146498298..147828510 [GRCh37]
Chr1:144964922..146295134 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000143304] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146145424..147929323 [GRCh37]
Chr1:144856781..146395947 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000143128] |
Chr1:146964168..148572213 [GRCh38]
Chr1:145886339..147926347 [GRCh37]
Chr1:144597696..146392971 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic|likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 |
copy number gain |
See cases [RCV000148082] |
Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 |
copy number gain |
See cases [RCV000143769] |
Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819815 [GRCh37]
Chr1:144969915..146286439 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 |
copy number gain |
See cases [RCV000148050] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 |
copy number loss |
See cases [RCV000148051]|See cases [RCV000509064] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 |
copy number loss |
See cases [RCV000148052] |
Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 |
copy number gain |
See cases [RCV000148054] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000143745] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147929323 [GRCh37]
Chr1:144816527..146395947 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 |
copy number gain |
See cases [RCV000148055] |
Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 |
copy number loss |
See cases [RCV000148057] |
Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4 |
copy number gain |
See cases [RCV000143488] |
Chr1:146999330..149087283 [GRCh38]
Chr1:146470888..147830903 [GRCh37]
Chr1:144937512..146297527 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000143533] |
Chr1:146964168..148572213 [GRCh38]
Chr1:145895747..147831170 [GRCh37]
Chr1:144607104..146297794 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000143646] |
Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147830830 [GRCh37]
Chr1:144755070..146297454 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3 |
copy number gain |
See cases [RCV000143585] |
Chr1:145885646..147978640 [GRCh37]
Chr1:144597003..146445264 [NCBI36]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 |
copy number gain |
See cases [RCV000143509] |
Chr1:146964168..148572213 [GRCh38]
Chr1:145932454..147819294 [GRCh37]
Chr1:144643811..146285918 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 |
copy number loss |
See cases [RCV000143612] |
Chr1:146964168..148572213 [GRCh38]
Chr1:145888925..147926347 [GRCh37]
Chr1:144600282..146392971 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 |
copy number loss |
See cases [RCV000137606] |
Chr1:146987841..148234205 [GRCh38]
Chr1:145415190..146474275 [GRCh37]
Chr1:144126547..144940899 [NCBI36]
Chr1:1q21.1 |
uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 |
copy number loss |
See cases [RCV000148155] |
Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.2(chr1:147756734-147776466)x3 |
copy number gain |
See cases [RCV000148235] |
Chr1:147756734..147776466 [GRCh38]
Chr1:147228867..147248577 [GRCh37]
Chr1:145695491..145715201 [NCBI36]
Chr1:1q21.2 |
uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 |
copy number gain |
See cases [RCV000148163] |
Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 |
copy number loss |
See cases [RCV000148176] |
Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 |
copy number loss |
See cases [RCV000148183] |
Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 |
copy number loss |
See cases [RCV000053734] |
Chr1:146987841..148234205 [GRCh38]
Chr1:145310254..146491118 [GRCh37]
Chr1:144021611..144957742 [NCBI36]
Chr1:1q21.1 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147380935)x1 |
copy number loss |
See cases [RCV000239836] |
Chr1:146535353..147380935 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.369C>T (p.Tyr123=) |
single nucleotide variant |
Atrial standstill 1 [RCV000531807]|Familial atrial fibrillation [RCV000267472]|not provided [RCV001668633]|not specified [RCV001700034] |
Chr1:147758870 [GRCh38]
Chr1:147230978 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147844809)x1 |
copy number loss |
See cases [RCV000239831] |
Chr1:146535353..147844809 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867793)x3 |
copy number gain |
See cases [RCV000239811] |
Chr1:146535353..147867793 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877206)x3 |
copy number gain |
See cases [RCV000240235] |
Chr1:146535353..147877206 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678) |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000767826] |
Chr1:145740598..147825678 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146560564-147416122) |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV000767693] |
Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1 |
copy number loss |
not provided [RCV002473948] |
Chr1:145895747..147962980 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| Single allele |
duplication |
Autism spectrum disorder [RCV000225476] |
Chr1:146499479..147830375 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| Single allele |
duplication |
Autism spectrum disorder [RCV000225655] |
Chr1:146089254..148004783 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000223957] |
Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3 |
pathogenic |
| NM_181703.4(GJA5):c.995G>A (p.Arg332His) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000359770]|Atrial standstill 1 [RCV000649051]|Chromosome 1q21.1 deletion syndrome [RCV000763745]|Inborn genetic diseases [RCV002519382] |
Chr1:147758244 [GRCh38]
Chr1:147230352 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_181703.4(GJA5):c.353G>A (p.Arg118Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000324845]|Atrial standstill 1 [RCV002522053] |
Chr1:147758886 [GRCh38]
Chr1:147230994 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147824207)x1 |
copy number loss |
See cases [RCV000239854] |
Chr1:146535353..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.13A>G (p.Ser5Gly) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000328129]|Atrial standstill 1 [RCV002059323] |
Chr1:147759226 [GRCh38]
Chr1:147231334 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| GRCh37/hg19 1q21.2(chr1:147111289-147482311)x3 |
copy number gain |
See cases [RCV000239904] |
Chr1:147111289..147482311 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 |
copy number loss |
See cases [RCV000239847] |
Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 |
copy number gain |
See cases [RCV000240518] |
Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857135)x1 |
copy number loss |
See cases [RCV000240361] |
Chr1:146535353..147857135 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_005266.7(GJA5):c.-108G>A |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000334290] |
Chr1:147773326 [GRCh38]
Chr1:147245430 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*508G>A |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000399294] |
Chr1:147757654 [GRCh38]
Chr1:147229762 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.-27T>C |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000385093]|not provided [RCV001660561] |
Chr1:147759265 [GRCh38]
Chr1:147231373 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_005266.7(GJA5):c.-51G>C |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000293140] |
Chr1:147773269 [GRCh38]
Chr1:147245373 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_005266.7(GJA5):c.-67G>A |
single nucleotide variant |
Familial atrial fibrillation [RCV000387823]|not provided [RCV002275008] |
Chr1:147773285 [GRCh38]
Chr1:147245389 [GRCh37]
Chr1:1q21.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_181703.4(GJA5):c.*608C>T |
single nucleotide variant |
Familial atrial fibrillation [RCV000295375]|not provided [RCV004710719] |
Chr1:147757554 [GRCh38]
Chr1:147229662 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_005266.7(GJA5):c.-68C>T |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000295714] |
Chr1:147773286 [GRCh38]
Chr1:147245390 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_005266.7(GJA5):c.-61A>G |
single nucleotide variant |
Atrial standstill 1 [RCV001522972]|Familial atrial fibrillation [RCV000330907]|not provided [RCV004710720] |
Chr1:147773279 [GRCh38]
Chr1:147245383 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| NM_181703.4(GJA5):c.*616T>C |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000395760] |
Chr1:147757546 [GRCh38]
Chr1:147229654 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.334G>C (p.Glu112Gln) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000270784] |
Chr1:147758905 [GRCh38]
Chr1:147231013 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)x3 |
copy number gain |
not provided [RCV000488100] |
Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| NM_181703.4(GJA5):c.1068A>G (p.Leu356=) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000302141]|Atrial standstill 1 [RCV003765695] |
Chr1:147758171 [GRCh38]
Chr1:147230279 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.342C>G (p.Ala114=) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000363163]|Atrial standstill 1 [RCV002522054] |
Chr1:147758897 [GRCh38]
Chr1:147231005 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_005266.6(GJA5):c.-175G>A |
single nucleotide variant |
Familial atrial fibrillation [RCV000316019]|not provided [RCV004711024] |
Chr1:147773393 [GRCh38]
Chr1:147245497 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.*1259C>T |
single nucleotide variant |
Familial atrial fibrillation [RCV000382080] |
Chr1:147756903 [GRCh38]
Chr1:147229036 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*617TGGTATGTACCTCTGGCAAATGCCC[3] |
microsatellite |
Familial atrial fibrillation [RCV000347287] |
Chr1:147757495..147757496 [GRCh38]
Chr1:147229619..147229628 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.*46T>C |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000407120] |
Chr1:147758116 [GRCh38]
Chr1:147230224 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*520A>T |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000352700] |
Chr1:147757642 [GRCh38]
Chr1:147229750 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*364C>T |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000299075] |
Chr1:147757798 [GRCh38]
Chr1:147229906 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*1396G>A |
single nucleotide variant |
Familial atrial fibrillation [RCV000325178] |
Chr1:147756766 [GRCh38]
Chr1:147228899 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.*60C>T |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000356223] |
Chr1:147758102 [GRCh38]
Chr1:147230210 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_005266.6(GJA5):c.-152G= |
single nucleotide variant |
Familial atrial fibrillation [RCV000277169]|not provided [RCV004711023] |
Chr1:147773370 [GRCh38]
Chr1:147245474 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.*1211A>G |
single nucleotide variant |
Familial atrial fibrillation [RCV000289943] |
Chr1:147756951 [GRCh38]
Chr1:147229084 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146618988-147825678) |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV000767660] |
Chr1:146618988..147825678 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| Single allele |
deletion |
Chromosome 1q21.1 deletion syndrome [RCV000414986] |
Chr1:146560564..147416122 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x3 |
copy number gain |
See cases [RCV000449268] |
Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 |
copy number loss |
See cases [RCV000449106] |
Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.2(chr1:147238413-147278516)x3 |
copy number gain |
See cases [RCV000449228] |
Chr1:147238413..147278516 [GRCh37]
Chr1:1q21.2 |
likely benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146096700-147819294)x3 |
copy number gain |
See cases [RCV000446349] |
Chr1:146096700..147819294 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147819294)x3 |
copy number gain |
See cases [RCV000446850] |
Chr1:146043713..147819294 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 |
copy number gain |
See cases [RCV000447303] |
Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145886339-147897962)x1 |
copy number loss |
See cases [RCV000447310] |
Chr1:145886339..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147900955)x3 |
copy number gain |
See cases [RCV000446607] |
Chr1:146535353..147900955 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 |
copy number loss |
not specified [RCV003986540] |
Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 |
copy number gain |
See cases [RCV000447109] |
Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867734)x3 |
copy number gain |
See cases [RCV000447215] |
Chr1:146535353..147867734 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-148016122)x1 |
copy number loss |
See cases [RCV000446501] |
Chr1:146105170..148016122 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.2(chr1:147140518-147509544)x3 |
copy number gain |
See cases [RCV000446513] |
Chr1:147140518..147509544 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857078)x1 |
copy number loss |
See cases [RCV000446048] |
Chr1:146535353..147857078 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146016526-147830830)x3 |
copy number gain |
See cases [RCV000447628] |
Chr1:146016526..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145885645-147947839)x1 |
copy number loss |
See cases [RCV000446765] |
Chr1:145885645..147947839 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146496425-147929323)x3 |
copy number gain |
See cases [RCV000447186] |
Chr1:146496425..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877162)x3 |
copy number gain |
See cases [RCV000447634] |
Chr1:146535353..147877162 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145895746-147856007)x1 |
copy number loss |
See cases [RCV000445872] |
Chr1:145895746..147856007 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 |
copy number loss |
See cases [RCV000445777] |
Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146498198-147926347)x3 |
copy number gain |
See cases [RCV000448794] |
Chr1:146498198..147926347 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146127815-147844758)x1 |
copy number loss |
See cases [RCV000448648] |
Chr1:146127815..147844758 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146507518-147441040)x3 |
copy number gain |
See cases [RCV000448731] |
Chr1:146507518..147441040 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 |
copy number loss |
See cases [RCV000448739] |
Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146101790-147830830)x1 |
copy number loss |
See cases [RCV000448963] |
Chr1:146101790..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146106723-147830830)x3 |
copy number gain |
See cases [RCV000448239] |
Chr1:146106723..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145885646-147844758)x3 |
copy number gain |
See cases [RCV000512098] |
Chr1:145885646..147844758 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146096700-147830830)x3 |
copy number gain |
See cases [RCV000512072] |
Chr1:146096700..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146096701-147898062)x1 |
copy number loss |
See cases [RCV000510373] |
Chr1:146096701..147898062 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146496382-147409820)x3 |
copy number gain |
See cases [RCV000510399] |
Chr1:146496382..147409820 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-148513854)x1 |
copy number loss |
See cases [RCV000510528] |
Chr1:146105170..148513854 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146347096-147824207)x1 |
copy number loss |
not provided [RCV000509202] |
Chr1:146347096..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
not provided |
| GRCh37/hg19 1q21.1-21.2(chr1:146507518-147824207)x1 |
copy number loss |
not provided [RCV000509261] |
Chr1:146507518..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
not provided |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_181703.4(GJA5):c.586T>G (p.Cys196Gly) |
single nucleotide variant |
Hypertrophic cardiomyopathy [RCV000498540] |
Chr1:147758653 [GRCh38]
Chr1:147230761 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147929323)x1 |
copy number loss |
See cases [RCV000510416] |
Chr1:146043713..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145808308-147929323)x3 |
copy number gain |
See cases [RCV000510318] |
Chr1:145808308..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3 |
copy number gain |
See cases [RCV000510580] |
Chr1:145885646..147947839 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-147897962)x1 |
copy number loss |
See cases [RCV000511960] |
Chr1:146105170..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 |
copy number loss |
See cases [RCV000511406] |
Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146496381-147819294)x3 |
copy number gain |
See cases [RCV000511887] |
Chr1:146496381..147819294 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3 |
copy number gain |
See cases [RCV000511678] |
Chr1:145895746..148893164 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 |
copy number loss |
See cases [RCV000511474] |
Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic|uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 |
copy number loss |
See cases [RCV000511760] |
Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146101790-148020200)x1 |
copy number loss |
See cases [RCV000511019] |
Chr1:146101790..148020200 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 |
copy number loss |
See cases [RCV000511224] |
Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146498298-147819294)x3 |
copy number gain |
See cases [RCV000511122] |
Chr1:146498298..147819294 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146496425-147814497)x3 |
copy number gain |
See cases [RCV000510814] |
Chr1:146496425..147814497 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4 |
copy number gain |
See cases [RCV000511031] |
Chr1:145927662..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3 |
copy number gain |
See cases [RCV000510735] |
Chr1:146003044..147832190 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146023923-147929323)x1 |
copy number loss |
See cases [RCV000510977] |
Chr1:146023923..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 |
copy number gain |
See cases [RCV000511264] |
Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470888-147830903)x3 |
copy number gain |
See cases [RCV000510918] |
Chr1:146470888..147830903 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_181703.4(GJA5):c.895G>A (p.Glu299Lys) |
single nucleotide variant |
Wolff-Parkinson-White pattern [RCV000656181] |
Chr1:147758344 [GRCh38]
Chr1:147230452 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_147230250)_(147231366_?)dup |
duplication |
Atrial standstill 1 [RCV000560155] |
Chr1:147230250..147231366 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146488131-147398560)x3 |
copy number gain |
See cases [RCV000512214] |
Chr1:146488131..147398560 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic|uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3 |
copy number gain |
See cases [RCV000512287] |
Chr1:145895746..147995251 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145808308-147926347)x3 |
copy number gain |
See cases [RCV000512412] |
Chr1:145808308..147926347 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| NM_181703.4(GJA5):c.365C>T (p.Ser122Phe) |
single nucleotide variant |
Atrial standstill 1 [RCV000649050]|Inborn genetic diseases [RCV004629273] |
Chr1:147758874 [GRCh38]
Chr1:147230982 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-148020200)x1 |
copy number loss |
See cases [RCV000512350] |
Chr1:146105170..148020200 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.430G>A (p.Ala144Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV000687042] |
Chr1:147758809 [GRCh38]
Chr1:147230917 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 |
copy number gain |
not provided [RCV000684622] |
Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 |
copy number loss |
not provided [RCV000684624] |
Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 |
copy number loss |
not provided [RCV000684625] |
Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 |
copy number loss |
not provided [RCV000684626] |
Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 |
copy number gain |
not provided [RCV000684628] |
Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1 |
copy number loss |
not provided [RCV000684633] |
Chr1:145733443..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1 |
copy number loss |
not provided [RCV000684634] |
Chr1:145764393..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1 |
copy number loss |
not provided [RCV000684635] |
Chr1:145769108..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1 |
copy number loss |
not provided [RCV000684636] |
Chr1:145770625..148514899 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1 |
copy number loss |
not provided [RCV000684637] |
Chr1:145770679..147926347 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1 |
copy number loss |
not provided [RCV000684638] |
Chr1:145770679..148519140 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1 |
copy number loss |
not provided [RCV000684639] |
Chr1:145784611..148519963 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1 |
copy number loss |
not provided [RCV000684640] |
Chr1:145786289..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1 |
copy number loss |
not provided [RCV000684641] |
Chr1:145786360..148514899 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1 |
copy number loss |
not provided [RCV000684642] |
Chr1:145792037..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1 |
copy number loss |
not provided [RCV000684643] |
Chr1:145792051..148846369 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 |
copy number loss |
not provided [RCV000684644] |
Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1 |
copy number loss |
not provided [RCV000684645] |
Chr1:145895746..147926347 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1 |
copy number loss |
not provided [RCV000684646] |
Chr1:146030328..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1 |
copy number loss |
not provided [RCV000684647] |
Chr1:146043713..147898062 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146117290-147897962)x1 |
copy number loss |
not provided [RCV000684648] |
Chr1:146117290..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146145424-147830830)x1 |
copy number loss |
not provided [RCV000684649] |
Chr1:146145424..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470887-147845170)x1 |
copy number loss |
not provided [RCV000684650] |
Chr1:146470887..147845170 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470887-148020200)x1 |
copy number loss |
not provided [RCV000684651] |
Chr1:146470887..148020200 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146483912-147828510)x1 |
copy number loss |
not provided [RCV000684652] |
Chr1:146483912..147828510 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146505911-147829213)x1 |
copy number loss |
not provided [RCV000684653] |
Chr1:146505911..147829213 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.973A>C (p.Asn325His) |
single nucleotide variant |
Atrial standstill 1 [RCV000700470]|not provided [RCV001766528] |
Chr1:147758266 [GRCh38]
Chr1:147230374 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_181703.4(GJA5):c.325C>T (p.Arg109Trp) |
single nucleotide variant |
Atrial standstill 1 [RCV000697922] |
Chr1:147758914 [GRCh38]
Chr1:147231022 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.433del (p.Leu145fs) |
deletion |
Atrial standstill 1 [RCV000688023]|not provided [RCV001756167] |
Chr1:147758806 [GRCh38]
Chr1:147230914 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.259A>T (p.Thr87Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV000691421] |
Chr1:147758980 [GRCh38]
Chr1:147231088 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.977G>A (p.Gly326Glu) |
single nucleotide variant |
Atrial standstill 1 [RCV000686037] |
Chr1:147758262 [GRCh38]
Chr1:147230370 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.496G>A (p.Gly166Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV000700700]|not provided [RCV001766532] |
Chr1:147758743 [GRCh38]
Chr1:147230851 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NC_000001.11:g.(?_145430995)_(148257619_?)del |
deletion |
Schizophrenia [RCV000754126] |
Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2 |
pathogenic |
| NC_000001.11:g.(?_145430995)_(148427734_?)del |
deletion |
Schizophrenia [RCV000754127] |
Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2 |
pathogenic |
| NC_000001.11:g.(?_145580669)_(149095000_?)del |
deletion |
Schizophrenia [RCV000754128] |
Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2 |
pathogenic |
| Single allele |
duplication |
Schizophrenia [RCV000754132] |
Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146087074-148209414)x3 |
copy number gain |
not provided [RCV000736678] |
Chr1:146087074..148209414 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146087074-148250606)x3 |
copy number gain |
not provided [RCV000736679] |
Chr1:146087074..148250606 [GRCh37]
Chr1:1q21.1-21.2 |
benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146089254-147391614)x1 |
copy number loss |
not provided [RCV000736680] |
Chr1:146089254..147391614 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146089254-147911246)x1 |
copy number loss |
not provided [RCV000736681] |
Chr1:146089254..147911246 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x3 |
copy number gain |
not provided [RCV000736682] |
Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2 |
benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146089268-147826789)x1 |
copy number loss |
not provided [RCV000736683] |
Chr1:146089268..147826789 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146089268-149376652)x1 |
copy number loss |
not provided [RCV000736684] |
Chr1:146089268..149376652 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146501348-147393410)x1 |
copy number loss |
not provided [RCV000736685] |
Chr1:146501348..147393410 [GRCh37]
Chr1:1q21.1-21.2 |
benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146501348-147826789)x3 |
copy number gain |
not provided [RCV000736686] |
Chr1:146501348..147826789 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146506206-147928995)x3 |
copy number gain |
not provided [RCV000749173] |
Chr1:146506206..147928995 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh37/hg19 1q21.2(chr1:147191841-147310152)x3 |
copy number gain |
not provided [RCV000749176] |
Chr1:147191841..147310152 [GRCh37]
Chr1:1q21.2 |
benign |
| GRCh37/hg19 1q21.2(chr1:147191841-147357928)x3 |
copy number gain |
not provided [RCV000749177] |
Chr1:147191841..147357928 [GRCh37]
Chr1:1q21.2 |
benign |
| GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 |
copy number gain |
not provided [RCV000749164] |
Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146501348-147843733)x1 |
copy number loss |
not provided [RCV000749171] |
Chr1:146501348..147843733 [GRCh37]
Chr1:1q21.1-21.2 |
likely pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146506206-147531377)x3 |
copy number gain |
not provided [RCV000749172] |
Chr1:146506206..147531377 [GRCh37]
Chr1:1q21.1-21.2 |
benign |
| GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000767544] |
Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.2(chr1:147245049-147246661) |
copy number loss |
Atrial fibrillation, familial, 11 [RCV000767777] |
Chr1:147245049..147246661 [GRCh37]
Chr1:1q21.2 |
pathogenic |
| NM_181703.4(GJA5):c.744C>A (p.Cys248Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000778936] |
Chr1:147758495 [GRCh38]
Chr1:147230603 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.241C>T (p.Gln81Ter) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV000778937] |
Chr1:147758998 [GRCh38]
Chr1:147231106 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.726G>A (p.Arg242=) |
single nucleotide variant |
Atrial standstill 1 [RCV000863025]|not provided [RCV001565775]|not specified [RCV004586963] |
Chr1:147758513 [GRCh38]
Chr1:147230621 [GRCh37]
Chr1:1q21.2 |
benign|likely benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146521698-147721869)x1 |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV000856631] |
Chr1:146521698..147721869 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265) |
copy number gain |
Hypoplastic left heart syndrome 1 [RCV002280613] |
Chr1:145792051..148001265 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000856632] |
Chr1:145804679..147735815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NC_000001.10:g.(?_147230260)_(147245383_?)del |
deletion |
Atrial standstill 1 [RCV000816622] |
Chr1:147230260..147245383 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.148G>A (p.Ala50Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV000791685] |
Chr1:147759091 [GRCh38]
Chr1:147231199 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.411G>T (p.Glu137Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV000799878] |
Chr1:147758828 [GRCh38]
Chr1:147230936 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 |
copy number gain |
not provided [RCV000848311] |
Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| Single allele |
duplication |
Neurodevelopmental disorder [RCV000787409] |
Chr1:146474245..147858400 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.199G>T (p.Asp67Tyr) |
single nucleotide variant |
Atrial standstill 1 [RCV000822679] |
Chr1:147759040 [GRCh38]
Chr1:147231148 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.793C>T (p.Pro265Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV000803226]|not provided [RCV001700307] |
Chr1:147758446 [GRCh38]
Chr1:147230554 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| Single allele |
deletion |
Chromosome 1q21.1 deletion syndrome [RCV000844901] |
Chr1:145723417..147897962 [GRCh37]
Chr1:1q21.1-21.2 |
not provided |
| GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 |
copy number loss |
not provided [RCV001005133] |
Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 |
copy number gain |
not provided [RCV000849214] |
Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.513G>A (p.Gln171=) |
single nucleotide variant |
Atrial standstill 1 [RCV001428299] |
Chr1:147758726 [GRCh38]
Chr1:147230834 [GRCh37]
Chr1:1q21.2 |
likely benign |
| GRCh37/hg19 1q21.2(chr1:147201195-147309340)x3 |
copy number gain |
not provided [RCV000848458] |
Chr1:147201195..147309340 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.2(chr1:147201195-147309340)x3 |
copy number gain |
not provided [RCV000848459] |
Chr1:147201195..147309340 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.2(chr1:147185887-147309340)x3 |
copy number gain |
not provided [RCV000849553] |
Chr1:147185887..147309340 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 |
copy number gain |
not provided [RCV001005132] |
Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.297T>G (p.Thr99=) |
single nucleotide variant |
Atrial standstill 1 [RCV001205815] |
Chr1:147758942 [GRCh38]
Chr1:147231050 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_181703.4(GJA5):c.790C>A (p.Pro264Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV001247018] |
Chr1:147758449 [GRCh38]
Chr1:147230557 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*53= |
variation |
not provided [RCV001534906] |
Chr1:147758109 [GRCh38]
Chr1:147230217 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_181703.4(GJA5):c.-33-152= |
single nucleotide variant |
not provided [RCV001639385] |
Chr1:147759423 [GRCh38]
Chr1:147231531 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_181703.4(GJA5):c.-33-308C>G |
single nucleotide variant |
not provided [RCV001710094] |
Chr1:147759579 [GRCh38]
Chr1:147231687 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_181703.4(GJA5):c.358T>C (p.Ser120Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV001237185] |
Chr1:147758881 [GRCh38]
Chr1:147230989 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.592G>A (p.Val198Ile) |
single nucleotide variant |
Atrial standstill 1 [RCV001066085] |
Chr1:147758647 [GRCh38]
Chr1:147230755 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1057T>G (p.Ser353Ala) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001100362] |
Chr1:147758182 [GRCh38]
Chr1:147230290 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146493131-147831043)x1 |
copy number loss |
not provided [RCV002468431] |
Chr1:146493131..147831043 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146498299-147393336)x3 |
copy number gain |
not provided [RCV002473794] |
Chr1:146498299..147393336 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 |
copy number gain |
not provided [RCV001005135] |
Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 |
copy number loss |
not provided [RCV001005134] |
Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.*498A>T |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001098592] |
Chr1:147757664 [GRCh38]
Chr1:147229772 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.*22G>A |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001100361]|not provided [RCV004691366] |
Chr1:147758140 [GRCh38]
Chr1:147230248 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.956A>T (p.Gln319Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001102337] |
Chr1:147758283 [GRCh38]
Chr1:147230391 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.377C>T (p.Pro126Leu) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001102339]|Atrial standstill 1 [RCV002554993] |
Chr1:147758862 [GRCh38]
Chr1:147230970 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_147230260)_(147245383_?)dup |
duplication |
Atrial standstill 1 [RCV001032308] |
Chr1:147230260..147245383 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.479G>T (p.Arg160Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV001047602] |
Chr1:147758760 [GRCh38]
Chr1:147230868 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146501348-147825548)x3 |
copy number gain |
See cases [RCV001007413] |
Chr1:146501348..147825548 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.*333C>G |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001098593] |
Chr1:147757829 [GRCh38]
Chr1:147229937 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_005266.7(GJA5):c.-125C>T |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001098685] |
Chr1:147773343 [GRCh38]
Chr1:147245447 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.478C>T (p.Arg160Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV001245886]|not provided [RCV004768970] |
Chr1:147758761 [GRCh38]
Chr1:147230869 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1006G>A (p.Gly336Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV001040652] |
Chr1:147758233 [GRCh38]
Chr1:147230341 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.947G>A (p.Arg316His) |
single nucleotide variant |
Atrial standstill 1 [RCV001036824] |
Chr1:147758292 [GRCh38]
Chr1:147230400 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.938T>C (p.Ile313Thr) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001102338] |
Chr1:147758301 [GRCh38]
Chr1:147230409 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1035_1038del (p.Ser345fs) |
deletion |
Atrial standstill 1 [RCV001038159] |
Chr1:147758201..147758204 [GRCh38]
Chr1:147230309..147230312 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.348G>A (p.Glu116=) |
single nucleotide variant |
Atrial fibrillation, familial, 11 [RCV001102340]|Atrial standstill 1 [RCV001416959] |
Chr1:147758891 [GRCh38]
Chr1:147230999 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3 |
copy number gain |
See cases [RCV001264401] |
Chr1:146500000..149500001 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146112080-147819815)x3 |
copy number gain |
not provided [RCV001260120] |
Chr1:146112080..147819815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146112080-147399145)x3 |
copy number gain |
not provided [RCV001260121] |
Chr1:146112080..147399145 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_181703.4(GJA5):c.317G>T (p.Arg106Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV002002190] |
Chr1:147758922 [GRCh38]
Chr1:147231030 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 |
copy number loss |
not provided [RCV001260118] |
Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146498298-147401392)x3 |
copy number gain |
not provided [RCV001260119] |
Chr1:146498298..147401392 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146496425-147819815)x3 |
copy number gain |
not provided [RCV001260122] |
Chr1:146496425..147819815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146096700-147929323)x1 |
copy number loss |
not provided [RCV001260123] |
Chr1:146096700..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 |
copy number gain |
not provided [RCV001260124] |
Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.2(chr1:147186575-147314482)x3 |
copy number gain |
not provided [RCV001260125] |
Chr1:147186575..147314482 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_147230260)_(147245383_?)dup |
duplication |
Atrial standstill 1 [RCV001304853] |
Chr1:147230260..147245383 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207) |
copy number gain |
Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001291962] |
Chr1:145818702..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207) |
copy number loss |
Delayed speech and language development [RCV001291984] |
Chr1:146506310..147824207 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266) |
copy number gain |
Delayed speech and language development [RCV001291985] |
Chr1:145818702..149378266 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.771dup (p.Val258fs) |
duplication |
Atrial standstill 1 [RCV001325739] |
Chr1:147758467..147758468 [GRCh38]
Chr1:147230575..147230576 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.787C>T (p.Pro263Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV001321184] |
Chr1:147758452 [GRCh38]
Chr1:147230560 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.199G>A (p.Asp67Asn) |
single nucleotide variant |
Atrial standstill 1 [RCV001317751]|not provided [RCV002224060] |
Chr1:147759040 [GRCh38]
Chr1:147231148 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.525C>G (p.Tyr175Ter) |
single nucleotide variant |
Atrial standstill 1 [RCV001337728] |
Chr1:147758714 [GRCh38]
Chr1:147230822 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.544C>T (p.Leu182=) |
single nucleotide variant |
Atrial standstill 1 [RCV001397695] |
Chr1:147758695 [GRCh38]
Chr1:147230803 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.864C>T (p.Ala288=) |
single nucleotide variant |
Atrial standstill 1 [RCV001433099] |
Chr1:147758375 [GRCh38]
Chr1:147230483 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.278T>C (p.Met93Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV001342377] |
Chr1:147758961 [GRCh38]
Chr1:147231069 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.170T>G (p.Ile57Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV001372445]|not provided [RCV003169916] |
Chr1:147759069 [GRCh38]
Chr1:147231177 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.941A>G (p.Gln314Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV001298291] |
Chr1:147758298 [GRCh38]
Chr1:147230406 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1024C>T (p.Arg342Ter) |
single nucleotide variant |
Atrial standstill 1 [RCV001365526]|not provided [RCV001751722] |
Chr1:147758215 [GRCh38]
Chr1:147230323 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.147G>A (p.Gln49=) |
single nucleotide variant |
Atrial standstill 1 [RCV001484622] |
Chr1:147759092 [GRCh38]
Chr1:147231200 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.327G>A (p.Arg109=) |
single nucleotide variant |
Atrial standstill 1 [RCV001403128] |
Chr1:147758912 [GRCh38]
Chr1:147231020 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NC_000001.11:g.147760632= |
variation |
Atrial standstill 1 [RCV001516274]|not provided [RCV004715453] |
Chr1:147760632 [GRCh38]
Chr1:147232740 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_181703.4(GJA5):c.472C>T (p.Leu158=) |
single nucleotide variant |
Atrial standstill 1 [RCV001516081] |
Chr1:147758767 [GRCh38]
Chr1:147230875 [GRCh37]
Chr1:1q21.2 |
benign |
| NM_181703.4(GJA5):c.117A>G (p.Thr39=) |
single nucleotide variant |
Atrial standstill 1 [RCV001459945] |
Chr1:147759122 [GRCh38]
Chr1:147231230 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.111G>A (p.Leu37=) |
single nucleotide variant |
Atrial standstill 1 [RCV001488394] |
Chr1:147759128 [GRCh38]
Chr1:147231236 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.903A>G (p.Val301=) |
single nucleotide variant |
Atrial standstill 1 [RCV001400272] |
Chr1:147758336 [GRCh38]
Chr1:147230444 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NC_000001.11:g.145601946_148597425del |
deletion |
Radial aplasia-thrombocytopenia syndrome [RCV000853559] |
Chr1:145601946..148597425 [GRCh38]
Chr1:1q21.1-21.2 |
likely pathogenic |
| NM_181703.4(GJA5):c.38A>G (p.Glu13Gly) |
single nucleotide variant |
not provided [RCV001768296] |
Chr1:147759201 [GRCh38]
Chr1:147231309 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.878C>T (p.Thr293Ile) |
single nucleotide variant |
not provided [RCV001768355] |
Chr1:147758361 [GRCh38]
Chr1:147230469 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.356G>A (p.Gly119Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV003772093]|not provided [RCV001768274] |
Chr1:147758883 [GRCh38]
Chr1:147230991 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.977G>C (p.Gly326Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV001868679]|not provided [RCV001766059] |
Chr1:147758262 [GRCh38]
Chr1:147230370 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.868C>T (p.Gln290Ter) |
single nucleotide variant |
not provided [RCV001757372] |
Chr1:147758371 [GRCh38]
Chr1:147230479 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV001801176] |
Chr1:146022474..147599371 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.356dup (p.Ser120fs) |
duplication |
not provided [RCV001757454] |
Chr1:147758882..147758883 [GRCh38]
Chr1:147230990..147230991 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.53C>T (p.Ser18Leu) |
single nucleotide variant |
not provided [RCV001757592] |
Chr1:147759186 [GRCh38]
Chr1:147231294 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.359C>G (p.Ser120Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV002540659]|not provided [RCV001759104] |
Chr1:147758880 [GRCh38]
Chr1:147230988 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.724C>T (p.Arg242Trp) |
single nucleotide variant |
Atrial standstill 1 [RCV001868707]|not provided [RCV001759138] |
Chr1:147758515 [GRCh38]
Chr1:147230623 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.481A>G (p.Thr161Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV002009223] |
Chr1:147758758 [GRCh38]
Chr1:147230866 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.4G>C (p.Gly2Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV001891628] |
Chr1:147759235 [GRCh38]
Chr1:147231343 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.304A>T (p.Met102Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV001864039] |
Chr1:147758935 [GRCh38]
Chr1:147231043 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.365C>G (p.Ser122Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV001982807] |
Chr1:147758874 [GRCh38]
Chr1:147230982 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1 |
copy number loss |
not provided [RCV001827839] |
Chr1:146043714..148514899 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.347A>C (p.Glu116Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV001945593] |
Chr1:147758892 [GRCh38]
Chr1:147231000 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.947G>C (p.Arg316Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV001965085] |
Chr1:147758292 [GRCh38]
Chr1:147230400 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1028G>A (p.Arg343His) |
single nucleotide variant |
Atrial standstill 1 [RCV001895035] |
Chr1:147758211 [GRCh38]
Chr1:147230319 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.316C>T (p.Arg106Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV001910590] |
Chr1:147758923 [GRCh38]
Chr1:147231031 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.920C>T (p.Thr307Ile) |
single nucleotide variant |
Atrial standstill 1 [RCV002002941] |
Chr1:147758319 [GRCh38]
Chr1:147230427 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.2(chr1:147193821-147399684)x3 |
copy number gain |
not provided [RCV001832877] |
Chr1:147193821..147399684 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.551T>A (p.Val184Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV001983880] |
Chr1:147758688 [GRCh38]
Chr1:147230796 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146101790-147831000) |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV002280718] |
Chr1:146101790..147831000 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146145424-147929323) |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV002280719] |
Chr1:146145424..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146101790-147832190) |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV002280720] |
Chr1:146101790..147832190 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154) |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV002280721] |
Chr1:145768022..148020154 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830) |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV002280723] |
Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NC_000001.10:g.(?_147230270)_(147231346_?)dup |
duplication |
Atrial standstill 1 [RCV001967265] |
Chr1:147230270..147231346 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.974A>G (p.Asn325Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV001963690] |
Chr1:147758265 [GRCh38]
Chr1:147230373 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.953G>T (p.Gly318Val) |
single nucleotide variant |
Atrial standstill 1 [RCV002019150] |
Chr1:147758286 [GRCh38]
Chr1:147230394 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_147230270)_(147231346_?)del |
deletion |
Atrial standstill 1 [RCV001955798] |
Chr1:147230270..147231346 [GRCh37]
Chr1:1q21.2 |
pathogenic|uncertain significance |
| NM_181703.4(GJA5):c.994C>T (p.Arg332Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV001981808] |
Chr1:147758245 [GRCh38]
Chr1:147230353 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.665G>C (p.Ser222Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV002036211] |
Chr1:147758574 [GRCh38]
Chr1:147230682 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.362G>A (p.Gly121Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV001996350] |
Chr1:147758877 [GRCh38]
Chr1:147230985 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.725G>T (p.Arg242Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV001906447] |
Chr1:147758514 [GRCh38]
Chr1:147230622 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.795dup (p.Asp266fs) |
duplication |
Atrial standstill 1 [RCV002013642] |
Chr1:147758443..147758444 [GRCh38]
Chr1:147230551..147230552 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.526G>A (p.Gly176Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV001937618] |
Chr1:147758713 [GRCh38]
Chr1:147230821 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.833A>G (p.Lys278Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV001952992] |
Chr1:147758406 [GRCh38]
Chr1:147230514 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.709C>T (p.Arg237Ter) |
single nucleotide variant |
Atrial standstill 1 [RCV001899448] |
Chr1:147758530 [GRCh38]
Chr1:147230638 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.227G>A (p.Arg76His) |
single nucleotide variant |
Atrial standstill 1 [RCV002010955] |
Chr1:147759012 [GRCh38]
Chr1:147231120 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.700A>T (p.Ile234Phe) |
single nucleotide variant |
Atrial standstill 1 [RCV001878355] |
Chr1:147758539 [GRCh38]
Chr1:147230647 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.905G>A (p.Arg302Gln) |
single nucleotide variant |
Atrial standstill 1 [RCV002047811] |
Chr1:147758334 [GRCh38]
Chr1:147230442 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.658C>T (p.Leu220Phe) |
single nucleotide variant |
Atrial standstill 1 [RCV001897641] |
Chr1:147758581 [GRCh38]
Chr1:147230689 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NC_000001.10:g.(?_146714354)_(147381384_?)dup |
duplication |
Cataract 1 multiple types [RCV001936874] |
Chr1:146714354..147381384 [GRCh37]
Chr1:1q21.1-21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.593T>C (p.Val198Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV001924572]|not provided [RCV003407890] |
Chr1:147758646 [GRCh38]
Chr1:147230754 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.413A>C (p.Glu138Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV001921767] |
Chr1:147758826 [GRCh38]
Chr1:147230934 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.369_370del (p.Tyr123_Glu124delinsTer) |
deletion |
Atrial standstill 1 [RCV001995970] |
Chr1:147758869..147758870 [GRCh38]
Chr1:147230977..147230978 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1016G>A (p.Ser339Asn) |
single nucleotide variant |
Atrial standstill 1 [RCV001881876] |
Chr1:147758223 [GRCh38]
Chr1:147230331 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.302G>A (p.Arg101His) |
single nucleotide variant |
Atrial standstill 1 [RCV001898875]|not provided [RCV004728921] |
Chr1:147758937 [GRCh38]
Chr1:147231045 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.355G>T (p.Gly119Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV002017832] |
Chr1:147758884 [GRCh38]
Chr1:147230992 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.776A>C (p.Gln259Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV001924316]|Inborn genetic diseases [RCV004044261] |
Chr1:147758463 [GRCh38]
Chr1:147230571 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.433C>A (p.Leu145Ile) |
single nucleotide variant |
Atrial standstill 1 [RCV001905744] |
Chr1:147758806 [GRCh38]
Chr1:147230914 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.370G>C (p.Glu124Gln) |
single nucleotide variant |
Atrial standstill 1 [RCV001981177]|Inborn genetic diseases [RCV004045376] |
Chr1:147758869 [GRCh38]
Chr1:147230977 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.542C>T (p.Thr181Ile) |
single nucleotide variant |
Atrial standstill 1 [RCV001956707] |
Chr1:147758697 [GRCh38]
Chr1:147230805 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.893C>G (p.Thr298Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV002049848] |
Chr1:147758346 [GRCh38]
Chr1:147230454 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.229T>C (p.Tyr77His) |
single nucleotide variant |
Atrial standstill 1 [RCV002033185] |
Chr1:147759010 [GRCh38]
Chr1:147231118 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.727C>T (p.Gln243Ter) |
single nucleotide variant |
Atrial standstill 1 [RCV001916364] |
Chr1:147758512 [GRCh38]
Chr1:147230620 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.543C>T (p.Thr181=) |
single nucleotide variant |
Atrial standstill 1 [RCV002144872] |
Chr1:147758696 [GRCh38]
Chr1:147230804 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.813G>A (p.Leu271=) |
single nucleotide variant |
Atrial standstill 1 [RCV002126461] |
Chr1:147758426 [GRCh38]
Chr1:147230534 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.618C>G (p.Val206=) |
single nucleotide variant |
Atrial standstill 1 [RCV002090536] |
Chr1:147758621 [GRCh38]
Chr1:147230729 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.945T>A (p.Val315=) |
single nucleotide variant |
Atrial standstill 1 [RCV002189803] |
Chr1:147758294 [GRCh38]
Chr1:147230402 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.780C>T (p.Ser260=) |
single nucleotide variant |
Atrial standstill 1 [RCV002165086] |
Chr1:147758459 [GRCh38]
Chr1:147230567 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.516C>T (p.Tyr172=) |
single nucleotide variant |
Atrial standstill 1 [RCV002107231] |
Chr1:147758723 [GRCh38]
Chr1:147230831 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.567C>G (p.Pro189=) |
single nucleotide variant |
Atrial standstill 1 [RCV002084913] |
Chr1:147758672 [GRCh38]
Chr1:147230780 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.447G>C (p.Leu149=) |
single nucleotide variant |
Atrial standstill 1 [RCV002111762] |
Chr1:147758792 [GRCh38]
Chr1:147230900 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1023G>A (p.Lys341=) |
single nucleotide variant |
Atrial standstill 1 [RCV002132965] |
Chr1:147758216 [GRCh38]
Chr1:147230324 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.123T>A (p.Ala41=) |
single nucleotide variant |
Atrial standstill 1 [RCV002093132] |
Chr1:147759116 [GRCh38]
Chr1:147231224 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.765G>C (p.Val255=) |
single nucleotide variant |
Atrial standstill 1 [RCV002090396] |
Chr1:147758474 [GRCh38]
Chr1:147230582 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.738T>C (p.Ala246=) |
single nucleotide variant |
Atrial standstill 1 [RCV002093268] |
Chr1:147758501 [GRCh38]
Chr1:147230609 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.867C>T (p.Ser289=) |
single nucleotide variant |
Atrial standstill 1 [RCV002094265] |
Chr1:147758372 [GRCh38]
Chr1:147230480 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.438G>A (p.Gln146=) |
single nucleotide variant |
Atrial standstill 1 [RCV002185386] |
Chr1:147758801 [GRCh38]
Chr1:147230909 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.138G>A (p.Gly46=) |
single nucleotide variant |
Atrial standstill 1 [RCV002172659] |
Chr1:147759101 [GRCh38]
Chr1:147231209 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1065C>T (p.Asp355=) |
single nucleotide variant |
Atrial standstill 1 [RCV002099974] |
Chr1:147758174 [GRCh38]
Chr1:147230282 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1071A>T (p.Ser357=) |
single nucleotide variant |
Atrial standstill 1 [RCV002123656] |
Chr1:147758168 [GRCh38]
Chr1:147230276 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.798C>T (p.Asp266=) |
single nucleotide variant |
Atrial standstill 1 [RCV002118916] |
Chr1:147758441 [GRCh38]
Chr1:147230549 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.258C>T (p.Ser86=) |
single nucleotide variant |
Atrial standstill 1 [RCV002121298]|GJA5-related disorder [RCV003916275] |
Chr1:147758981 [GRCh38]
Chr1:147231089 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.378G>A (p.Pro126=) |
single nucleotide variant |
Atrial standstill 1 [RCV002177641] |
Chr1:147758861 [GRCh38]
Chr1:147230969 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.537G>C (p.Leu179=) |
single nucleotide variant |
Atrial standstill 1 [RCV002161917] |
Chr1:147758702 [GRCh38]
Chr1:147230810 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NC_000001.10:g.(?_146714354)_(147381384_?)del |
deletion |
Cataract 1 multiple types [RCV003116346] |
Chr1:146714354..147381384 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.333del (p.Glu112fs) |
deletion |
not provided [RCV003156686] |
Chr1:147758906 [GRCh38]
Chr1:147231014 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| Single allele |
duplication |
Chromosome 1q21.1 duplication syndrome [RCV002227717] |
Chr1:147050137..148438699 [GRCh38]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146626685-147597284)x1 |
copy number loss |
not provided [RCV002292765] |
Chr1:146626685..147597284 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1 |
copy number loss |
See cases [RCV002287572] |
Chr1:145157447..148016122 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146105170-147830830)x1 |
copy number loss |
See cases [RCV002287560] |
Chr1:146105170..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294) |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV002280722] |
Chr1:145808308..147819294 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146465878-147416212) |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV003236709] |
Chr1:146465878..147416212 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1 |
copy number loss |
not provided [RCV002474588] |
Chr1:145074728..148832359 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1 |
copy number loss |
not provided [RCV002474558] |
Chr1:145770680..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1 |
copy number loss |
not provided [RCV002474575] |
Chr1:145768023..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV002299274] |
Chr1:147758415 [GRCh38]
Chr1:147230523 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.266C>G (p.Ser89Cys) |
single nucleotide variant |
Atrial standstill 1 [RCV002301979] |
Chr1:147758973 [GRCh38]
Chr1:147231081 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.584A>G (p.Asn195Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV002816305] |
Chr1:147758655 [GRCh38]
Chr1:147230763 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1000C>A (p.Pro334Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV002903664] |
Chr1:147758239 [GRCh38]
Chr1:147230347 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1 |
copy number loss |
not provided [RCV002511625] |
Chr1:145365287..147416212 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.730C>T (p.His244Tyr) |
single nucleotide variant |
Atrial standstill 1 [RCV002839106] |
Chr1:147758509 [GRCh38]
Chr1:147230617 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.268C>T (p.Leu90=) |
single nucleotide variant |
Atrial standstill 1 [RCV002972579] |
Chr1:147758971 [GRCh38]
Chr1:147231079 [GRCh37]
Chr1:1q21.2 |
likely benign |
| GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1 |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV002509026] |
Chr1:146542843..147857135 [GRCh37]
Chr1:1q21.1-21.2 |
not provided |
| NM_181703.4(GJA5):c.255C>A (p.Val85=) |
single nucleotide variant |
Atrial standstill 1 [RCV002726958] |
Chr1:147758984 [GRCh38]
Chr1:147231092 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.510C>A (p.Gly170=) |
single nucleotide variant |
Atrial standstill 1 [RCV003020992] |
Chr1:147758729 [GRCh38]
Chr1:147230837 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.479G>A (p.Arg160His) |
single nucleotide variant |
Atrial standstill 1 [RCV003039378] |
Chr1:147758760 [GRCh38]
Chr1:147230868 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.722C>G (p.Pro241Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV002953785] |
Chr1:147758517 [GRCh38]
Chr1:147230625 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.913G>A (p.Glu305Lys) |
single nucleotide variant |
Atrial standstill 1 [RCV003039301] |
Chr1:147758326 [GRCh38]
Chr1:147230434 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.30C>T (p.Phe10=) |
single nucleotide variant |
Atrial standstill 1 [RCV002952801] |
Chr1:147759209 [GRCh38]
Chr1:147231317 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.685C>T (p.Leu229=) |
single nucleotide variant |
Atrial standstill 1 [RCV002785726] |
Chr1:147758554 [GRCh38]
Chr1:147230662 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.281del (p.Gly94fs) |
deletion |
Atrial standstill 1 [RCV002848375] |
Chr1:147758958 [GRCh38]
Chr1:147231066 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1039G>C (p.Ala347Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV002885503]|not provided [RCV004765586] |
Chr1:147758200 [GRCh38]
Chr1:147230308 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.989G>C (p.Gly330Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV002909409] |
Chr1:147758250 [GRCh38]
Chr1:147230358 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.904C>T (p.Arg302Ter) |
single nucleotide variant |
Atrial standstill 1 [RCV002538206] |
Chr1:147758335 [GRCh38]
Chr1:147230443 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.638C>A (p.Ala213Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV003018266] |
Chr1:147758601 [GRCh38]
Chr1:147230709 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.815A>C (p.Glu272Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV003080399] |
Chr1:147758424 [GRCh38]
Chr1:147230532 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.795C>T (p.Pro265=) |
single nucleotide variant |
Atrial standstill 1 [RCV003079494] |
Chr1:147758444 [GRCh38]
Chr1:147230552 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.415G>A (p.Gly139Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV002918910] |
Chr1:147758824 [GRCh38]
Chr1:147230932 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.160T>C (p.Cys54Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV002666781] |
Chr1:147759079 [GRCh38]
Chr1:147231187 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.287C>A (p.Ala96Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV003056412] |
Chr1:147758952 [GRCh38]
Chr1:147231060 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.650T>C (p.Leu217Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV002928352] |
Chr1:147758589 [GRCh38]
Chr1:147230697 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.947G>T (p.Arg316Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV002932320]|Inborn genetic diseases [RCV004066249] |
Chr1:147758292 [GRCh38]
Chr1:147230400 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.834del (p.Lys278fs) |
deletion |
Atrial standstill 1 [RCV002829565] |
Chr1:147758405 [GRCh38]
Chr1:147230513 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.23del (p.Gly8fs) |
deletion |
Atrial standstill 1 [RCV002917391] |
Chr1:147759216 [GRCh38]
Chr1:147231324 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.351C>T (p.Val117=) |
single nucleotide variant |
Atrial standstill 1 [RCV003085206] |
Chr1:147758888 [GRCh38]
Chr1:147230996 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.445C>T (p.Leu149=) |
single nucleotide variant |
Atrial standstill 1 [RCV003056791] |
Chr1:147758794 [GRCh38]
Chr1:147230902 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.870A>G (p.Gln290=) |
single nucleotide variant |
Atrial standstill 1 [RCV002872619] |
Chr1:147758369 [GRCh38]
Chr1:147230477 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.521T>A (p.Ile174Asn) |
single nucleotide variant |
Atrial standstill 1 [RCV002766444] |
Chr1:147758718 [GRCh38]
Chr1:147230826 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.948T>A (p.Arg316=) |
single nucleotide variant |
Atrial standstill 1 [RCV002579095] |
Chr1:147758291 [GRCh38]
Chr1:147230399 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.203A>G (p.Gln68Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV003030713] |
Chr1:147759036 [GRCh38]
Chr1:147231144 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.279_296dup (p.Thr99_Val100insGlyHisAlaMetHisThr) |
duplication |
Atrial standstill 1 [RCV003049086] |
Chr1:147758942..147758943 [GRCh38]
Chr1:147231050..147231051 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.105C>T (p.Leu35=) |
single nucleotide variant |
Atrial standstill 1 [RCV002941975] |
Chr1:147759134 [GRCh38]
Chr1:147231242 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1023G>C (p.Lys341Asn) |
single nucleotide variant |
Atrial standstill 1 [RCV003091027] |
Chr1:147758216 [GRCh38]
Chr1:147230324 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.566C>G (p.Pro189Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV002966848] |
Chr1:147758673 [GRCh38]
Chr1:147230781 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.213C>T (p.Pro71=) |
single nucleotide variant |
Atrial standstill 1 [RCV003062064] |
Chr1:147759026 [GRCh38]
Chr1:147231134 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1030C>A (p.Leu344Ile) |
single nucleotide variant |
Atrial standstill 1 [RCV002834253] |
Chr1:147758209 [GRCh38]
Chr1:147230317 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.607G>A (p.Glu203Lys) |
single nucleotide variant |
Atrial standstill 1 [RCV003029471] |
Chr1:147758632 [GRCh38]
Chr1:147230740 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.635T>C (p.Leu212Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV002577777] |
Chr1:147758604 [GRCh38]
Chr1:147230712 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.824C>G (p.Pro275Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV003087121] |
Chr1:147758415 [GRCh38]
Chr1:147230523 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.908G>A (p.Gly303Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV002937547] |
Chr1:147758331 [GRCh38]
Chr1:147230439 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.269T>C (p.Leu90Pro) |
single nucleotide variant |
Atrial standstill 1 [RCV003088406] |
Chr1:147758970 [GRCh38]
Chr1:147231078 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.435C>T (p.Leu145=) |
single nucleotide variant |
Atrial standstill 1 [RCV003046997] |
Chr1:147758804 [GRCh38]
Chr1:147230912 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.598C>T (p.Arg200Trp) |
single nucleotide variant |
Atrial standstill 1 [RCV003064874] |
Chr1:147758641 [GRCh38]
Chr1:147230749 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.317G>A (p.Arg106His) |
single nucleotide variant |
Atrial standstill 1 [RCV002580295] |
Chr1:147758922 [GRCh38]
Chr1:147231030 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.287C>T (p.Ala96Val) |
single nucleotide variant |
Atrial standstill 1 [RCV002605395]|Inborn genetic diseases [RCV002605394] |
Chr1:147758952 [GRCh38]
Chr1:147231060 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.646G>A (p.Ala216Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV002633422] |
Chr1:147758593 [GRCh38]
Chr1:147230701 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.591C>T (p.Tyr197=) |
single nucleotide variant |
Atrial standstill 1 [RCV002633534] |
Chr1:147758648 [GRCh38]
Chr1:147230756 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.860T>A (p.Met287Lys) |
single nucleotide variant |
Atrial standstill 1 [RCV002609170]|not provided [RCV003223760] |
Chr1:147758379 [GRCh38]
Chr1:147230487 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.863C>T (p.Ala288Val) |
single nucleotide variant |
Atrial standstill 1 [RCV003052608] |
Chr1:147758376 [GRCh38]
Chr1:147230484 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.299T>G (p.Val100Gly) |
single nucleotide variant |
Atrial standstill 1 [RCV003072054]|Inborn genetic diseases [RCV003250740] |
Chr1:147758940 [GRCh38]
Chr1:147231048 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.821G>A (p.Gly274Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV002633248] |
Chr1:147758418 [GRCh38]
Chr1:147230526 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.497G>C (p.Gly166Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV002611045] |
Chr1:147758742 [GRCh38]
Chr1:147230850 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| Single allele |
duplication |
See cases [RCV003154634] |
Chr1:146397357..148344744 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.1066C>A (p.Leu356Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003194517] |
Chr1:147758173 [GRCh38]
Chr1:147230281 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.275A>C (p.Tyr92Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV003779908]|Inborn genetic diseases [RCV003260536] |
Chr1:147758964 [GRCh38]
Chr1:147231072 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146405854-147597284)x1 |
copy number loss |
not provided [RCV003222662] |
Chr1:146405854..147597284 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.829G>T (p.Gly277Ter) |
single nucleotide variant |
not provided [RCV003227152] |
Chr1:147758410 [GRCh38]
Chr1:147230518 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3 |
copy number gain |
Chromosome 1q21.1 deletion syndrome [RCV003329552] |
Chr1:145883619..147817082 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1 |
copy number loss |
not provided [RCV003326784] |
Chr1:146057275..147581622 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146474687-147415708)x1 |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV003329500] |
Chr1:146474687..147415708 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.590A>G (p.Tyr197Cys) |
single nucleotide variant |
not provided [RCV003328863] |
Chr1:147758649 [GRCh38]
Chr1:147230757 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV003329522] |
Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1 |
copy number loss |
Chromosome 1q21.1 deletion syndrome [RCV003329511] |
Chr1:145883619..147594599 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.734T>C (p.Met245Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003386795] |
Chr1:147758505 [GRCh38]
Chr1:147230613 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.836T>C (p.Phe279Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV003445335] |
Chr1:147758403 [GRCh38]
Chr1:147230511 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1 |
copy number loss |
not provided [RCV003483360] |
Chr1:145769109..148216113 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3 |
copy number gain |
not provided [RCV003484037] |
Chr1:146043714..147819815 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1 |
copy number loss |
not provided [RCV003483316] |
Chr1:145311525..147509544 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146577645-147391923)x3 |
copy number gain |
not provided [RCV003484038] |
Chr1:146577645..147391923 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470888-147473821)x1 |
copy number loss |
not provided [RCV003483371] |
Chr1:146470888..147473821 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641) |
copy number loss |
1q21.1 microdeletion syndrome (BP3-BP4, distal) [RCV003448604] |
Chr1:146872717..148353641 [GRCh38]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.932G>C (p.Gly311Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV003778369]|not provided [RCV003408817] |
Chr1:147758307 [GRCh38]
Chr1:147230415 [GRCh37]
Chr1:1q21.2 |
likely benign|uncertain significance |
| NM_181703.4(GJA5):c.925G>A (p.Gly309Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV003792239] |
Chr1:147758314 [GRCh38]
Chr1:147230422 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.843T>C (p.Asn281=) |
single nucleotide variant |
Atrial standstill 1 [RCV003797844] |
Chr1:147758396 [GRCh38]
Chr1:147230504 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.248T>C (p.Ile83Thr) |
single nucleotide variant |
Atrial standstill 1 [RCV003783436] |
Chr1:147758991 [GRCh38]
Chr1:147231099 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.261G>A (p.Thr87=) |
single nucleotide variant |
Atrial standstill 1 [RCV003796781] |
Chr1:147758978 [GRCh38]
Chr1:147231086 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.891C>T (p.Val297=) |
single nucleotide variant |
Atrial standstill 1 [RCV003807560] |
Chr1:147758348 [GRCh38]
Chr1:147230456 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.176C>T (p.Pro59Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV003804393] |
Chr1:147759063 [GRCh38]
Chr1:147231171 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.414A>G (p.Glu138=) |
single nucleotide variant |
Atrial standstill 1 [RCV003797779] |
Chr1:147758825 [GRCh38]
Chr1:147230933 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.381G>A (p.Val127=) |
single nucleotide variant |
Atrial standstill 1 [RCV003789108] |
Chr1:147758858 [GRCh38]
Chr1:147230966 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.769A>G (p.Ile257Val) |
single nucleotide variant |
Atrial standstill 1 [RCV003796006] |
Chr1:147758470 [GRCh38]
Chr1:147230578 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.1020C>G (p.Asp340Glu) |
single nucleotide variant |
Atrial standstill 1 [RCV003806047] |
Chr1:147758219 [GRCh38]
Chr1:147230327 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.576C>T (p.His192=) |
single nucleotide variant |
Atrial standstill 1 [RCV003795834] |
Chr1:147758663 [GRCh38]
Chr1:147230771 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.772G>T (p.Val258Phe) |
single nucleotide variant |
Atrial standstill 1 [RCV003786573] |
Chr1:147758467 [GRCh38]
Chr1:147230575 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.645T>A (p.Ala215=) |
single nucleotide variant |
Atrial standstill 1 [RCV003785798] |
Chr1:147758594 [GRCh38]
Chr1:147230702 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.399G>T (p.Leu133=) |
single nucleotide variant |
Atrial standstill 1 [RCV003789652] |
Chr1:147758840 [GRCh38]
Chr1:147230948 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.610A>G (p.Lys204Glu) |
single nucleotide variant |
Atrial standstill 1 [RCV003804951] |
Chr1:147758629 [GRCh38]
Chr1:147230737 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.756C>A (p.Gly252=) |
single nucleotide variant |
Atrial standstill 1 [RCV003786991] |
Chr1:147758483 [GRCh38]
Chr1:147230591 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.695del (p.Lys232fs) |
deletion |
Atrial standstill 1 [RCV003805708] |
Chr1:147758544 [GRCh38]
Chr1:147230652 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.777del (p.Ser260fs) |
deletion |
Atrial standstill 1 [RCV003793992] |
Chr1:147758462 [GRCh38]
Chr1:147230570 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.497del (p.Gly166fs) |
deletion |
Atrial standstill 1 [RCV003784296] |
Chr1:147758742 [GRCh38]
Chr1:147230850 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.550G>A (p.Val184Ile) |
single nucleotide variant |
Atrial standstill 1 [RCV003805681] |
Chr1:147758689 [GRCh38]
Chr1:147230797 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.926G>C (p.Gly309Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV003781411] |
Chr1:147758313 [GRCh38]
Chr1:147230421 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.978A>C (p.Gly326=) |
single nucleotide variant |
Atrial standstill 1 [RCV003795952] |
Chr1:147758261 [GRCh38]
Chr1:147230369 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.432C>A (p.Ala144=) |
single nucleotide variant |
Atrial standstill 1 [RCV003804897] |
Chr1:147758807 [GRCh38]
Chr1:147230915 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1046G>A (p.Ser349Asn) |
single nucleotide variant |
Atrial standstill 1 [RCV003795616] |
Chr1:147758193 [GRCh38]
Chr1:147230301 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.559A>C (p.Arg187=) |
single nucleotide variant |
Atrial standstill 1 [RCV003796426] |
Chr1:147758680 [GRCh38]
Chr1:147230788 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.304A>C (p.Met102Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV003784911] |
Chr1:147758935 [GRCh38]
Chr1:147231043 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.57C>G (p.Thr19=) |
single nucleotide variant |
Atrial standstill 1 [RCV003793251] |
Chr1:147759182 [GRCh38]
Chr1:147231290 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.352C>G (p.Arg118Gly) |
single nucleotide variant |
Atrial standstill 1 [RCV003794786] |
Chr1:147758887 [GRCh38]
Chr1:147230995 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.963T>G (p.Pro321=) |
single nucleotide variant |
Atrial standstill 1 [RCV003792015] |
Chr1:147758276 [GRCh38]
Chr1:147230384 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.533del (p.Phe178fs) |
deletion |
Atrial standstill 1 [RCV003790380] |
Chr1:147758706 [GRCh38]
Chr1:147230814 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.923C>G (p.Pro308Arg) |
single nucleotide variant |
Atrial standstill 1 [RCV003784198] |
Chr1:147758316 [GRCh38]
Chr1:147230424 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.450C>T (p.Leu150=) |
single nucleotide variant |
Atrial standstill 1 [RCV003793762] |
Chr1:147758789 [GRCh38]
Chr1:147230897 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.816G>T (p.Glu272Asp) |
single nucleotide variant |
Atrial standstill 1 [RCV003794106] |
Chr1:147758423 [GRCh38]
Chr1:147230531 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.525C>T (p.Tyr175=) |
single nucleotide variant |
Atrial standstill 1 [RCV003780369] |
Chr1:147758714 [GRCh38]
Chr1:147230822 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.81T>C (p.Thr27=) |
single nucleotide variant |
Atrial standstill 1 [RCV003794040] |
Chr1:147759158 [GRCh38]
Chr1:147231266 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1065C>A (p.Asp355Glu) |
single nucleotide variant |
Atrial standstill 1 [RCV003808371] |
Chr1:147758174 [GRCh38]
Chr1:147230282 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.942G>T (p.Gln314His) |
single nucleotide variant |
Atrial standstill 1 [RCV003798288] |
Chr1:147758297 [GRCh38]
Chr1:147230405 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.695AGA[1] (p.Lys233del) |
microsatellite |
Atrial standstill 1 [RCV003800413] |
Chr1:147758539..147758541 [GRCh38]
Chr1:147230647..147230649 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.624T>G (p.Ile208Met) |
single nucleotide variant |
Atrial standstill 1 [RCV003818002] |
Chr1:147758615 [GRCh38]
Chr1:147230723 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.578del (p.Pro193fs) |
deletion |
Atrial standstill 1 [RCV003798750] |
Chr1:147758661 [GRCh38]
Chr1:147230769 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.516C>A (p.Tyr172Ter) |
single nucleotide variant |
Atrial standstill 1 [RCV003813524] |
Chr1:147758723 [GRCh38]
Chr1:147230831 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.272T>C (p.Val91Ala) |
single nucleotide variant |
Atrial standstill 1 [RCV003800294] |
Chr1:147758967 [GRCh38]
Chr1:147231075 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.823C>T (p.Pro275Ser) |
single nucleotide variant |
Atrial standstill 1 [RCV003813070] |
Chr1:147758416 [GRCh38]
Chr1:147230524 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.578C>T (p.Pro193Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV003798860] |
Chr1:147758661 [GRCh38]
Chr1:147230769 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.377C>A (p.Pro126Gln) |
single nucleotide variant |
Atrial standstill 1 [RCV003800136]|not provided [RCV004759305] |
Chr1:147758862 [GRCh38]
Chr1:147230970 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.827_838del (p.Gly276_Phe280delinsVal) |
deletion |
Atrial standstill 1 [RCV003808794] |
Chr1:147758401..147758412 [GRCh38]
Chr1:147230509..147230520 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.208T>C (p.Phe70Leu) |
single nucleotide variant |
Atrial standstill 1 [RCV003809064] |
Chr1:147759031 [GRCh38]
Chr1:147231139 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| NM_181703.4(GJA5):c.789A>G (p.Pro263=) |
single nucleotide variant |
Atrial standstill 1 [RCV003802387] |
Chr1:147758450 [GRCh38]
Chr1:147230558 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.76C>T (p.Leu26Phe) |
single nucleotide variant |
Atrial standstill 1 [RCV003802568] |
Chr1:147759163 [GRCh38]
Chr1:147231271 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 |
copy number gain |
not specified [RCV003986717] |
Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146023922-147831170)x3 |
copy number gain |
not specified [RCV003986373] |
Chr1:146023922..147831170 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929323)x1 |
copy number loss |
not specified [RCV003986451] |
Chr1:146470887..147929323 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470887-147856007)x3 |
copy number gain |
not specified [RCV003986518] |
Chr1:146470887..147856007 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)x1 |
copy number loss |
not specified [RCV003986595] |
Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146112080-147806677)x3 |
copy number gain |
not specified [RCV003986617] |
Chr1:146112080..147806677 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.2(chr1:147186576-147334957)x3 |
copy number gain |
not specified [RCV003987206] |
Chr1:147186576..147334957 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:146106723-147844758)x3 |
copy number gain |
not specified [RCV003986917] |
Chr1:146106723..147844758 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:146470887-147929115)x1 |
copy number loss |
not specified [RCV003986706] |
Chr1:146470887..147929115 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 |
copy number gain |
not specified [RCV003987261] |
Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_181703.4(GJA5):c.138G>C (p.Gly46=) |
single nucleotide variant |
Atrial standstill 1 [RCV003803451] |
Chr1:147759101 [GRCh38]
Chr1:147231209 [GRCh37]
Chr1:1q21.2 |
likely benign |
| NM_181703.4(GJA5):c.1034G>A (p.Ser345Asn) |
single nucleotide variant |
Atrial standstill 1 [RCV003802521] |
Chr1:147758205 [GRCh38]
Chr1:147230313 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3 |
copy number gain |
See cases [RCV004442790] |
Chr1:144055163..148789835 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3 |
copy number gain |
See cases [RCV004442772] |
Chr1:144055163..149664300 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211) |
copy number loss |
Autism spectrum disorder [RCV003885439] |
Chr1:145421717..148193211 [GRCh37]
Chr1:1q21.1-21.2 |
pathogenic |
| NM_181703.4(GJA5):c.142G>A (p.Glu48Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004390779] |
Chr1:147759097 [GRCh38]
Chr1:147231205 [GRCh37]
Chr1:1q21.2 |
uncertain significance |
| GRCh38/hg38 1q21.1-21.2(chr1:146387442-148577050)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV004577966] |
Chr1:146387442..148577050 [GRCh38]
Chr1:1q21.1-21.2 |
pathogenic |
