| NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003311874]|Charcot-marie-tooth disease, axonal, type 2DD [RCV000656716] |
Chr1:116399068 [GRCh38]
Chr1:116941690 [GRCh37]
Chr1:1p13.1 |
pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003311871]|Charcot-marie-tooth disease, axonal, type 2DD [RCV000656713]|not provided [RCV005091883] |
Chr1:116395247 [GRCh38]
Chr1:116937869 [GRCh37]
Chr1:1p13.1 |
pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003311873]|Charcot-marie-tooth disease, axonal, type 2DD [RCV000656715]|not provided [RCV001855351] |
Chr1:116395224 [GRCh38]
Chr1:116937846 [GRCh37]
Chr1:1p13.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003311870]|Charcot-marie-tooth disease, axonal, type 2DD [RCV000656712]|not provided [RCV001092891] |
Chr1:116384802 [GRCh38]
Chr1:116927424 [GRCh37]
Chr1:1p13.1 |
pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003311872]|Charcot-marie-tooth disease, axonal, type 2DD [RCV000656714]|not provided [RCV002534251] |
Chr1:116395247 [GRCh38]
Chr1:116937869 [GRCh37]
Chr1:1p13.1 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 |
copy number gain |
See cases [RCV000051827] |
Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12 |
pathogenic |
| GRCh38/hg38 1p13.1-12(chr1:116059621-120130051)x3 |
copy number gain |
See cases [RCV000051831] |
Chr1:116059621..120130051 [GRCh38]
Chr1:116602242..120672637 [GRCh37]
Chr1:116403765..120474160 [NCBI36]
Chr1:1p13.1-12 |
pathogenic |
| NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV001331357]|Intellectual disability [RCV001800984] |
Chr1:116399502 [GRCh38]
Chr1:116942124 [GRCh37]
Chr1:1p13.1 |
likely pathogenic |
| NM_000701.8(ATP1A1):c.464C>T (p.Ser155Leu) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149075] |
Chr1:116388207 [GRCh38]
Chr1:116930829 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg) |
single nucleotide variant |
Aldosterone-producing adrenal cortex adenoma [RCV000149851] |
Chr1:116387415 [GRCh38]
Chr1:116930037 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 |
copy number gain |
See cases [RCV000142953] |
Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12 |
pathogenic |
| NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del) |
deletion |
Aldosterone-producing adrenal cortex adenoma [RCV000149850] |
Chr1:116387401..116387415 [GRCh38]
Chr1:116930023..116930037 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly) |
single nucleotide variant |
Aldosterone-producing adrenal cortex adenoma [RCV000149853] |
Chr1:116389679 [GRCh38]
Chr1:116932301 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NM_000701.8(ATP1A1):c.905T>C (p.Leu302Pro) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV000754797] |
Chr1:116389589 [GRCh38]
Chr1:116932211 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NM_000701.8(ATP1A1):c.2576T>G (p.Met859Arg) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV000754799] |
Chr1:116400864 [GRCh38]
Chr1:116943486 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NM_000701.8(ATP1A1):c.907G>C (p.Gly303Arg) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV000754798] |
Chr1:116389591 [GRCh38]
Chr1:116932213 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 |
copy number gain |
See cases [RCV000449311] |
Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 |
copy number gain |
See cases [RCV000512354] |
Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2 |
pathogenic |
| NM_000701.8(ATP1A1):c.2199T>C (p.Ala733=) |
single nucleotide variant |
not provided [RCV002084519] |
Chr1:116398695 [GRCh38]
Chr1:116941317 [GRCh37]
Chr1:1p13.1 |
likely benign |
| GRCh37/hg19 1p13.1(chr1:116797188-116997613)x1 |
copy number loss |
not provided [RCV000684617] |
Chr1:116797188..116997613 [GRCh37]
Chr1:1p13.1 |
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 |
| NM_000701.8(ATP1A1):c.387+68A>T |
single nucleotide variant |
not provided [RCV001609532] |
Chr1:116387559 [GRCh38]
Chr1:116930181 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.-78C>T |
single nucleotide variant |
not provided [RCV001534134] |
Chr1:116373434 [GRCh38]
Chr1:116916056 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003976063]|Charcot-marie-tooth disease, axonal, type 2DD [RCV002260374]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260375]|not provided [RCV001709190] |
Chr1:116404429 [GRCh38]
Chr1:116947051 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2572+172G>A |
single nucleotide variant |
not provided [RCV001669032] |
Chr1:116399715 [GRCh38]
Chr1:116942337 [GRCh37]
Chr1:1p13.1 |
benign |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_000701.8(ATP1A1):c.1987T>G (p.Cys663Gly) |
single nucleotide variant |
not provided [RCV005054774] |
Chr1:116397901 [GRCh38]
Chr1:116940523 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3043+8T>C |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260330]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260331]|not provided [RCV001679142] |
Chr1:116403983 [GRCh38]
Chr1:116946605 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1222+139dup |
duplication |
not provided [RCV001690445] |
Chr1:116390536..116390537 [GRCh38]
Chr1:116933158..116933159 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1222+125G>T |
single nucleotide variant |
not provided [RCV001644439] |
Chr1:116390536 [GRCh38]
Chr1:116933158 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2025C>T (p.Ser675=) |
single nucleotide variant |
not provided [RCV000983379] |
Chr1:116397939 [GRCh38]
Chr1:116940561 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2541G>A (p.Glu847=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003916147]|not provided [RCV000964161] |
Chr1:116399512 [GRCh38]
Chr1:116942134 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.821C>T (p.Ala274Val) |
single nucleotide variant |
not provided [RCV002284933] |
Chr1:116389505 [GRCh38]
Chr1:116932127 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.490A>G (p.Met164Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003272044]|not provided [RCV005102617] |
Chr1:116388233 [GRCh38]
Chr1:116930855 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1801_1802delinsTT (p.Asp601Phe) |
indel |
Charcot-Marie-Tooth disease type 2A2 [RCV003312905] |
Chr1:116395250..116395251 [GRCh38]
Chr1:116937872..116937873 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.183+4T>C |
single nucleotide variant |
ATP1A1-related disorder [RCV004754650]|not provided [RCV000960096] |
Chr1:116384846 [GRCh38]
Chr1:116927468 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.998C>G (p.Pro333Arg) |
single nucleotide variant |
Marfanoid habitus and intellectual disability [RCV000850471] |
Chr1:116389682 [GRCh38]
Chr1:116932304 [GRCh37]
Chr1:1p13.1 |
likely pathogenic |
| GRCh37/hg19 1p13.1(chr1:116852321-116927860)x1 |
copy number loss |
not provided [RCV000848142] |
Chr1:116852321..116927860 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2124+6C>T |
single nucleotide variant |
not provided [RCV000994080] |
Chr1:116398044 [GRCh38]
Chr1:116940666 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2021C>G (p.Thr674Ser) |
single nucleotide variant |
Marfanoid habitus and intellectual disability [RCV000850440] |
Chr1:116397935 [GRCh38]
Chr1:116940557 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV001198395]|not provided [RCV005057080] |
Chr1:116399513 [GRCh38]
Chr1:116942135 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2791T>C (p.Trp931Arg) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV000845571] |
Chr1:116401202 [GRCh38]
Chr1:116943824 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NC_000001.10:g.(?_116310909)_(116947066_?)dup |
duplication |
Catecholaminergic polymorphic ventricular tachycardia 1 [RCV003105678] |
Chr1:116310909..116947066 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2445C>G (p.Asp815Glu) |
single nucleotide variant |
not provided [RCV004812909] |
Chr1:116399081 [GRCh38]
Chr1:116941703 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1223-32G>A |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260289]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260290]|not provided [RCV001674024] |
Chr1:116390750 [GRCh38]
Chr1:116933372 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2448+25C>G |
single nucleotide variant |
not provided [RCV001696444] |
Chr1:116399109 [GRCh38]
Chr1:116941731 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.502-35G>A |
single nucleotide variant |
not provided [RCV001691413] |
Chr1:116388603 [GRCh38]
Chr1:116931225 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.741C>A (p.Thr247=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003975969]|Charcot-marie-tooth disease, axonal, type 2DD [RCV002260334]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260335]|not provided [RCV001694262] |
Chr1:116389006 [GRCh38]
Chr1:116931628 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.123+225C>G |
single nucleotide variant |
not provided [RCV001616992] |
Chr1:116384349 [GRCh38]
Chr1:116926971 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1974-129G>A |
single nucleotide variant |
not provided [RCV001685780] |
Chr1:116397759 [GRCh38]
Chr1:116940381 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1468-8C>T |
single nucleotide variant |
not provided [RCV001531009] |
Chr1:116393523 [GRCh38]
Chr1:116936145 [GRCh37]
Chr1:1p13.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260133]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260134]|not provided [RCV001092892] |
Chr1:116398991 [GRCh38]
Chr1:116941613 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV001823305]|not provided [RCV001732236] |
Chr1:116393708 [GRCh38]
Chr1:116936330 [GRCh37]
Chr1:1p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260303]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260304]|not provided [RCV001677170] |
Chr1:116390299 [GRCh38]
Chr1:116932921 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.637-17C>T |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260394]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260395]|not provided [RCV001720502] |
Chr1:116388885 [GRCh38]
Chr1:116931507 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.3043+38T>C |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260184]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260185]|not provided [RCV001538807] |
Chr1:116404013 [GRCh38]
Chr1:116946635 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.755-108T>C |
single nucleotide variant |
not provided [RCV001716636] |
Chr1:116389331 [GRCh38]
Chr1:116931953 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.755-77A>T |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260364]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260365]|not provided [RCV001710107] |
Chr1:116389362 [GRCh38]
Chr1:116931984 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1222+137_1222+139dup |
duplication |
not provided [RCV001638575] |
Chr1:116390536..116390537 [GRCh38]
Chr1:116933158..116933159 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1836+178G>A |
single nucleotide variant |
not provided [RCV001696043] |
Chr1:116395463 [GRCh38]
Chr1:116938085 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1024-64G>A |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260368]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260369]|not provided [RCV001708639] |
Chr1:116390149 [GRCh38]
Chr1:116932771 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1974-14dup |
duplication |
not provided [RCV001649908] |
Chr1:116397859..116397860 [GRCh38]
Chr1:116940481..116940482 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2952-37C>T |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260216]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260217]|not provided [RCV001611130] |
Chr1:116403847 [GRCh38]
Chr1:116946469 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1222+139del |
deletion |
not provided [RCV001662988] |
Chr1:116390537 [GRCh38]
Chr1:116933159 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1973+216A>C |
single nucleotide variant |
not provided [RCV001684682] |
Chr1:116396950 [GRCh38]
Chr1:116939572 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV001528137] |
Chr1:116389685 [GRCh38]
Chr1:116932307 [GRCh37]
Chr1:1p13.1 |
likely pathogenic |
| NM_000701.8(ATP1A1):c.1974-14del |
deletion |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260344]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260345]|not provided [RCV001690780] |
Chr1:116397860 [GRCh38]
Chr1:116940482 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.501+157A>G |
single nucleotide variant |
not provided [RCV001652409] |
Chr1:116388401 [GRCh38]
Chr1:116931023 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.387+177C>G |
single nucleotide variant |
not provided [RCV001647731] |
Chr1:116387668 [GRCh38]
Chr1:116930290 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.12+727T>A |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV001198503] |
Chr1:116374250 [GRCh38]
Chr1:116916872 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1468-9C>A |
single nucleotide variant |
not provided [RCV003106778] |
Chr1:116393522 [GRCh38]
Chr1:116936144 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2412T>C (p.Thr804=) |
single nucleotide variant |
not specified [RCV004782114] |
Chr1:116399048 [GRCh38]
Chr1:116941670 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs) |
deletion |
Charcot-marie-tooth disease, axonal, type 2DD [RCV001290135] |
Chr1:116401220..116401230 [GRCh38]
Chr1:116943842..116943852 [GRCh37]
Chr1:1p13.1 |
likely pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.1866C>G (p.Ile622Met) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV001280844] |
Chr1:116396627 [GRCh38]
Chr1:116939249 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.743A>G (p.Asn248Ser) |
single nucleotide variant |
not provided [RCV001317016] |
Chr1:116389008 [GRCh38]
Chr1:116931630 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+501del |
deletion |
not provided [RCV001695231] |
Chr1:116374024 [GRCh38]
Chr1:116916646 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.502-151A>C |
single nucleotide variant |
not provided [RCV001615719] |
Chr1:116388487 [GRCh38]
Chr1:116931109 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1024-100T>G |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002260223]|Hypomagnesemia, seizures, and intellectual disability 2 [RCV002260224]|not provided [RCV001611658] |
Chr1:116390113 [GRCh38]
Chr1:116932735 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.13-203G>A |
single nucleotide variant |
not provided [RCV001650431] |
Chr1:116383811 [GRCh38]
Chr1:116926433 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2125-139C>T |
single nucleotide variant |
not provided [RCV001616674] |
Chr1:116398482 [GRCh38]
Chr1:116941104 [GRCh37]
Chr1:1p13.1 |
benign |
| NC_000001.10:g.(?_116916134)_(116947066_?)dup |
duplication |
not provided [RCV003105282] |
Chr1:116916134..116947066 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NC_000001.10:g.(?_116926616)_(116947066_?)dup |
duplication |
not provided [RCV003105283] |
Chr1:116926616..116947066 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.542A>G (p.Asn181Ser) |
single nucleotide variant |
not provided [RCV001732398] |
Chr1:116388678 [GRCh38]
Chr1:116931300 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1691A>G (p.Gln564Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004244543]|not provided [RCV003108801] |
Chr1:116395140 [GRCh38]
Chr1:116937762 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.176T>C (p.Leu59Ser) |
single nucleotide variant |
not provided [RCV001754846] |
Chr1:116384835 [GRCh38]
Chr1:116927457 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002273224] |
Chr1:116373519 [GRCh38]
Chr1:116916141 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.905T>G (p.Leu302Arg) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV002251080] |
Chr1:116389589 [GRCh38]
Chr1:116932211 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NM_000701.8(ATP1A1):c.2768T>A (p.Phe923Tyr) |
single nucleotide variant |
not provided [RCV001732902] |
Chr1:116401179 [GRCh38]
Chr1:116943801 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2584G>A (p.Ala862Thr) |
single nucleotide variant |
not provided [RCV001756250] |
Chr1:116400872 [GRCh38]
Chr1:116943494 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.998C>A (p.Pro333Gln) |
single nucleotide variant |
not provided [RCV001757224] |
Chr1:116389682 [GRCh38]
Chr1:116932304 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1478A>C (p.His493Pro) |
single nucleotide variant |
not provided [RCV001763707] |
Chr1:116393541 [GRCh38]
Chr1:116936163 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.387+5G>T |
single nucleotide variant |
not provided [RCV001763315] |
Chr1:116387496 [GRCh38]
Chr1:116930118 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.158G>A (p.Arg53His) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV004785324]|not provided [RCV001815678] |
Chr1:116384817 [GRCh38]
Chr1:116927439 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2797G>A (p.Asp933Asn) |
single nucleotide variant |
not provided [RCV001752425] |
Chr1:116401208 [GRCh38]
Chr1:116943830 [GRCh37]
Chr1:1p13.1 |
pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.184-10T>G |
single nucleotide variant |
not provided [RCV001754914] |
Chr1:116387278 [GRCh38]
Chr1:116929900 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1886A>G (p.Lys629Arg) |
single nucleotide variant |
not provided [RCV001754704] |
Chr1:116396647 [GRCh38]
Chr1:116939269 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1723G>C (p.Asp575His) |
single nucleotide variant |
not provided [RCV001806497] |
Chr1:116395172 [GRCh38]
Chr1:116937794 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.14T>C (p.Val5Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003247073]|not provided [RCV001907696] |
Chr1:116384015 [GRCh38]
Chr1:116926637 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1780C>T (p.Pro594Ser) |
single nucleotide variant |
not provided [RCV001983219] |
Chr1:116395229 [GRCh38]
Chr1:116937851 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1377C>G (p.Cys459Trp) |
single nucleotide variant |
not provided [RCV002008902] |
Chr1:116392898 [GRCh38]
Chr1:116935520 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1333-10_1333-9del |
microsatellite |
not provided [RCV001896251] |
Chr1:116392841..116392842 [GRCh38]
Chr1:116935463..116935464 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.748G>A (p.Val250Ile) |
single nucleotide variant |
not provided [RCV001896054] |
Chr1:116389013 [GRCh38]
Chr1:116931635 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2873del (p.Leu958fs) |
deletion |
not provided [RCV001914480] |
Chr1:116401577 [GRCh38]
Chr1:116944199 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2834T>C (p.Phe945Ser) |
single nucleotide variant |
not provided [RCV002007839] |
Chr1:116401245 [GRCh38]
Chr1:116943867 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1718C>T (p.Thr573Ile) |
single nucleotide variant |
not provided [RCV002005867] |
Chr1:116395167 [GRCh38]
Chr1:116937789 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1154G>A (p.Arg385Gln) |
single nucleotide variant |
not provided [RCV001984770] |
Chr1:116390343 [GRCh38]
Chr1:116932965 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2657T>A (p.Leu886His) |
single nucleotide variant |
not provided [RCV002005847] |
Chr1:116400945 [GRCh38]
Chr1:116943567 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) |
copy number gain |
not specified [RCV002053602] |
Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2 |
pathogenic |
| NM_000701.8(ATP1A1):c.1574G>A (p.Gly525Asp) |
single nucleotide variant |
not provided [RCV001945803] |
Chr1:116393637 [GRCh38]
Chr1:116936259 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.396G>A (p.Leu132=) |
single nucleotide variant |
not provided [RCV002039319] |
Chr1:116388139 [GRCh38]
Chr1:116930761 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.311T>C (p.Leu104Pro) |
single nucleotide variant |
not provided [RCV001985843] |
Chr1:116387415 [GRCh38]
Chr1:116930037 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2951+6T>C |
single nucleotide variant |
not provided [RCV001947373] |
Chr1:116401661 [GRCh38]
Chr1:116944283 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.419T>C (p.Val140Ala) |
single nucleotide variant |
Neuromuscular disease [RCV004797718] |
Chr1:116388162 [GRCh38]
Chr1:116930784 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.182G>A (p.Arg61Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003289352]|not provided [RCV002006245] |
Chr1:116384841 [GRCh38]
Chr1:116927463 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3040G>A (p.Gly1014Ser) |
single nucleotide variant |
not provided [RCV001986369] |
Chr1:116403972 [GRCh38]
Chr1:116946594 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.183+3A>G |
single nucleotide variant |
ATP1A1-related disorder [RCV003984128]|not provided [RCV001887598] |
Chr1:116384845 [GRCh38]
Chr1:116927467 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.248C>T (p.Pro83Leu) |
single nucleotide variant |
not provided [RCV001887349] |
Chr1:116387352 [GRCh38]
Chr1:116929974 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1184A>G (p.Asn395Ser) |
single nucleotide variant |
ATP1A1-related disorder [RCV003948849]|Inborn genetic diseases [RCV004044533]|not provided [RCV001963555] |
Chr1:116390373 [GRCh38]
Chr1:116932995 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1205C>T (p.Thr402Met) |
single nucleotide variant |
not provided [RCV002037409] |
Chr1:116390394 [GRCh38]
Chr1:116933016 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.743A>C (p.Asn248Thr) |
single nucleotide variant |
not provided [RCV001904722] |
Chr1:116389008 [GRCh38]
Chr1:116931630 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2677C>T (p.Arg893Cys) |
single nucleotide variant |
not provided [RCV002047031] |
Chr1:116400965 [GRCh38]
Chr1:116943587 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.323C>T (p.Ala108Val) |
single nucleotide variant |
not provided [RCV001903237] |
Chr1:116387427 [GRCh38]
Chr1:116930049 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2307T>C (p.Phe769=) |
single nucleotide variant |
not provided [RCV001922079] |
Chr1:116398943 [GRCh38]
Chr1:116941565 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1265C>A (p.Ser422Tyr) |
single nucleotide variant |
not provided [RCV001870032] |
Chr1:116390824 [GRCh38]
Chr1:116933446 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.568C>G (p.Leu190Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003161241]|not provided [RCV002029378] |
Chr1:116388704 [GRCh38]
Chr1:116931326 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.157C>T (p.Arg53Cys) |
single nucleotide variant |
not provided [RCV001956755] |
Chr1:116384816 [GRCh38]
Chr1:116927438 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.13G>T (p.Val5Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003339901]|not provided [RCV002027274] |
Chr1:116384014 [GRCh38]
Chr1:116926636 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.1934C>T (p.Ala645Val) |
single nucleotide variant |
not provided [RCV002011962] |
Chr1:116396695 [GRCh38]
Chr1:116939317 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2641A>G (p.Ile881Val) |
single nucleotide variant |
not provided [RCV001960450] |
Chr1:116400929 [GRCh38]
Chr1:116943551 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.79A>C (p.Lys27Gln) |
single nucleotide variant |
not provided [RCV001897203] |
Chr1:116384080 [GRCh38]
Chr1:116926702 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2789A>G (p.Gln930Arg) |
single nucleotide variant |
not provided [RCV001904919] |
Chr1:116401200 [GRCh38]
Chr1:116943822 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2606_2609del (p.Tyr869fs) |
microsatellite |
not provided [RCV001920028] |
Chr1:116400888..116400891 [GRCh38]
Chr1:116943510..116943513 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1432G>A (p.Val478Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003170121]|not provided [RCV001996884] |
Chr1:116392953 [GRCh38]
Chr1:116935575 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.53A>G (p.Gln18Arg) |
single nucleotide variant |
ATP1A1-related disorder [RCV003892962]|not provided [RCV001921361] |
Chr1:116384054 [GRCh38]
Chr1:116926676 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1723G>A (p.Asp575Asn) |
single nucleotide variant |
not provided [RCV002017736] |
Chr1:116395172 [GRCh38]
Chr1:116937794 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1317C>A (p.Asn439Lys) |
single nucleotide variant |
not provided [RCV001905700] |
Chr1:116390876 [GRCh38]
Chr1:116933498 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1550G>A (p.Arg517His) |
single nucleotide variant |
not provided [RCV001925942] |
Chr1:116393613 [GRCh38]
Chr1:116936235 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.450A>G (p.Gln150=) |
single nucleotide variant |
not provided [RCV001977306] |
Chr1:116388193 [GRCh38]
Chr1:116930815 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.1578G>A (p.Lys526=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003968655]|not provided [RCV001989987] |
Chr1:116393641 [GRCh38]
Chr1:116936263 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.1879A>G (p.Ile627Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002548187]|not provided [RCV002016677] |
Chr1:116396640 [GRCh38]
Chr1:116939262 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.705C>G (p.Asn235Lys) |
single nucleotide variant |
not provided [RCV001904504] |
Chr1:116388970 [GRCh38]
Chr1:116931592 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1660+16G>C |
single nucleotide variant |
not provided [RCV002167660] |
Chr1:116393739 [GRCh38]
Chr1:116936361 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2736A>G (p.Lys912=) |
single nucleotide variant |
not provided [RCV002144791] |
Chr1:116401147 [GRCh38]
Chr1:116943769 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1644C>T (p.Leu548=) |
single nucleotide variant |
not provided [RCV002208438] |
Chr1:116393707 [GRCh38]
Chr1:116936329 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2442T>G (p.Thr814=) |
single nucleotide variant |
not provided [RCV002145078] |
Chr1:116399078 [GRCh38]
Chr1:116941700 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2952-16C>G |
single nucleotide variant |
not provided [RCV002128251]|not specified [RCV005239276] |
Chr1:116403868 [GRCh38]
Chr1:116946490 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.501+9C>T |
single nucleotide variant |
not provided [RCV002092166] |
Chr1:116388253 [GRCh38]
Chr1:116930875 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1734C>T (p.Phe578=) |
single nucleotide variant |
not provided [RCV002110058] |
Chr1:116395183 [GRCh38]
Chr1:116937805 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.124-8T>A |
single nucleotide variant |
not provided [RCV002073859] |
Chr1:116384775 [GRCh38]
Chr1:116927397 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1974-13G>T |
single nucleotide variant |
not provided [RCV002128671] |
Chr1:116397875 [GRCh38]
Chr1:116940497 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1973+10G>A |
single nucleotide variant |
not provided [RCV002208074] |
Chr1:116396744 [GRCh38]
Chr1:116939366 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2464C>T (p.Leu822=) |
single nucleotide variant |
not provided [RCV002090968] |
Chr1:116399435 [GRCh38]
Chr1:116942057 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2724T>C (p.Tyr908=) |
single nucleotide variant |
not provided [RCV002165980] |
Chr1:116401135 [GRCh38]
Chr1:116943757 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.219G>A (p.Ala73=) |
single nucleotide variant |
not provided [RCV002146371] |
Chr1:116387323 [GRCh38]
Chr1:116929945 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3021C>T (p.Leu1007=) |
single nucleotide variant |
not provided [RCV002164821] |
Chr1:116403953 [GRCh38]
Chr1:116946575 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1086A>G (p.Glu362=) |
single nucleotide variant |
not provided [RCV002072788] |
Chr1:116390275 [GRCh38]
Chr1:116932897 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.522T>C (p.Asn174=) |
single nucleotide variant |
not provided [RCV002170050] |
Chr1:116388658 [GRCh38]
Chr1:116931280 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1661-9T>C |
single nucleotide variant |
not provided [RCV002146708] |
Chr1:116395101 [GRCh38]
Chr1:116937723 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2007T>C (p.Asp669=) |
single nucleotide variant |
not provided [RCV002190963] |
Chr1:116397921 [GRCh38]
Chr1:116940543 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2154T>G (p.Gly718=) |
single nucleotide variant |
not provided [RCV002192084] |
Chr1:116398650 [GRCh38]
Chr1:116941272 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2293+10A>G |
single nucleotide variant |
not provided [RCV002186273] |
Chr1:116398799 [GRCh38]
Chr1:116941421 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1333-9T>C |
single nucleotide variant |
not provided [RCV002108171] |
Chr1:116392845 [GRCh38]
Chr1:116935467 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1738A>G (p.Ile580Val) |
single nucleotide variant |
not provided [RCV002166125] |
Chr1:116395187 [GRCh38]
Chr1:116937809 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2719-8C>T |
single nucleotide variant |
not provided [RCV002146123] |
Chr1:116401122 [GRCh38]
Chr1:116943744 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.813C>T (p.Ala271=) |
single nucleotide variant |
not provided [RCV002167355] |
Chr1:116389497 [GRCh38]
Chr1:116932119 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2505G>A (p.Gln835=) |
single nucleotide variant |
not provided [RCV002126126] |
Chr1:116399476 [GRCh38]
Chr1:116942098 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1098C>G (p.Thr366=) |
single nucleotide variant |
not provided [RCV002089723] |
Chr1:116390287 [GRCh38]
Chr1:116932909 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1920C>T (p.Thr640=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003978524]|not provided [RCV002165177] |
Chr1:116396681 [GRCh38]
Chr1:116939303 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.414C>T (p.Ala138=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003933375]|not provided [RCV002088488] |
Chr1:116388157 [GRCh38]
Chr1:116930779 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.637-11C>T |
single nucleotide variant |
not provided [RCV002148826] |
Chr1:116388891 [GRCh38]
Chr1:116931513 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2635C>T (p.Leu879Phe) |
single nucleotide variant |
not provided [RCV002211099] |
Chr1:116400923 [GRCh38]
Chr1:116943545 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2572+13C>T |
single nucleotide variant |
not provided [RCV002151418] |
Chr1:116399556 [GRCh38]
Chr1:116942178 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1023+10dup |
duplication |
not provided [RCV002115080] |
Chr1:116389716..116389717 [GRCh38]
Chr1:116932338..116932339 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2889C>T (p.Ala963=) |
single nucleotide variant |
not provided [RCV002171424] |
Chr1:116401593 [GRCh38]
Chr1:116944215 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.13-16C>G |
single nucleotide variant |
not provided [RCV002214061] |
Chr1:116383998 [GRCh38]
Chr1:116926620 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1509C>T (p.His503=) |
single nucleotide variant |
ATP1A1-related disorder [RCV004754854]|not provided [RCV002152615] |
Chr1:116393572 [GRCh38]
Chr1:116936194 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.2449-18C>T |
single nucleotide variant |
not provided [RCV002134973] |
Chr1:116399402 [GRCh38]
Chr1:116942024 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1749G>A (p.Leu583=) |
single nucleotide variant |
not provided [RCV002171435] |
Chr1:116395198 [GRCh38]
Chr1:116937820 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2796C>T (p.Ala932=) |
single nucleotide variant |
not provided [RCV002109878] |
Chr1:116401207 [GRCh38]
Chr1:116943829 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2439C>T (p.Gly813=) |
single nucleotide variant |
not provided [RCV002115658] |
Chr1:116399075 [GRCh38]
Chr1:116941697 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.324G>T (p.Ala108=) |
single nucleotide variant |
not provided [RCV002213697] |
Chr1:116387428 [GRCh38]
Chr1:116930050 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2293+18T>C |
single nucleotide variant |
not provided [RCV002194221] |
Chr1:116398807 [GRCh38]
Chr1:116941429 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1206G>A (p.Thr402=) |
single nucleotide variant |
not provided [RCV002081079] |
Chr1:116390395 [GRCh38]
Chr1:116933017 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1317C>T (p.Asn439=) |
single nucleotide variant |
not provided [RCV002115523] |
Chr1:116390876 [GRCh38]
Chr1:116933498 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2449-13C>A |
single nucleotide variant |
not provided [RCV002167138] |
Chr1:116399407 [GRCh38]
Chr1:116942029 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1761G>A (p.Gly587=) |
single nucleotide variant |
not provided [RCV002092608] |
Chr1:116395210 [GRCh38]
Chr1:116937832 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.183+8C>T |
single nucleotide variant |
not provided [RCV002191215] |
Chr1:116384850 [GRCh38]
Chr1:116927472 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.387+20A>T |
single nucleotide variant |
not provided [RCV002149125] |
Chr1:116387511 [GRCh38]
Chr1:116930133 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2587C>T (p.Leu863=) |
single nucleotide variant |
not provided [RCV002111263] |
Chr1:116400875 [GRCh38]
Chr1:116943497 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1973+20_1973+33del |
deletion |
not provided [RCV002149291] |
Chr1:116396754..116396767 [GRCh38]
Chr1:116939376..116939389 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2151C>T (p.Asp717=) |
single nucleotide variant |
not provided [RCV002196101] |
Chr1:116398647 [GRCh38]
Chr1:116941269 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.999G>A (p.Pro333=) |
single nucleotide variant |
not provided [RCV002147985] |
Chr1:116389683 [GRCh38]
Chr1:116932305 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.60T>C (p.Asp20=) |
single nucleotide variant |
not provided [RCV002149587] |
Chr1:116384061 [GRCh38]
Chr1:116926683 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1024-19T>G |
single nucleotide variant |
not provided [RCV002086311] |
Chr1:116390194 [GRCh38]
Chr1:116932816 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.783T>G (p.Thr261=) |
single nucleotide variant |
not provided [RCV002145129] |
Chr1:116389467 [GRCh38]
Chr1:116932089 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.444C>T (p.Tyr148=) |
single nucleotide variant |
not provided [RCV002208640] |
Chr1:116388187 [GRCh38]
Chr1:116930809 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2988T>C (p.Leu996=) |
single nucleotide variant |
not provided [RCV002091775] |
Chr1:116403920 [GRCh38]
Chr1:116946542 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3043+16_3043+17del |
deletion |
not provided [RCV002186855] |
Chr1:116403990..116403991 [GRCh38]
Chr1:116946612..116946613 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1608C>T (p.Asp536=) |
single nucleotide variant |
not provided [RCV002150352] |
Chr1:116393671 [GRCh38]
Chr1:116936293 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.755-17C>G |
single nucleotide variant |
not provided [RCV002078048] |
Chr1:116389422 [GRCh38]
Chr1:116932044 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2294-15T>C |
single nucleotide variant |
not provided [RCV002199347] |
Chr1:116398915 [GRCh38]
Chr1:116941537 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2124+12C>T |
single nucleotide variant |
not provided [RCV002140572] |
Chr1:116398050 [GRCh38]
Chr1:116940672 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.345T>C (p.Tyr115=) |
single nucleotide variant |
not provided [RCV002178997] |
Chr1:116387449 [GRCh38]
Chr1:116930071 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1572C>T (p.His524=) |
single nucleotide variant |
not provided [RCV002083268] |
Chr1:116393635 [GRCh38]
Chr1:116936257 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+19C>T |
single nucleotide variant |
not provided [RCV002117992] |
Chr1:116390430 [GRCh38]
Chr1:116933052 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1731T>C (p.Asn577=) |
single nucleotide variant |
not provided [RCV002154473] |
Chr1:116395180 [GRCh38]
Chr1:116937802 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1179T>C (p.Phe393=) |
single nucleotide variant |
not provided [RCV002217211] |
Chr1:116390368 [GRCh38]
Chr1:116932990 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+7C>G |
single nucleotide variant |
ATP1A1-related disorder [RCV003913549]|not provided [RCV002179876] |
Chr1:116390418 [GRCh38]
Chr1:116933040 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2958C>G (p.Thr986=) |
single nucleotide variant |
not provided [RCV002098790] |
Chr1:116403890 [GRCh38]
Chr1:116946512 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1660+20A>T |
single nucleotide variant |
not provided [RCV002180148] |
Chr1:116393743 [GRCh38]
Chr1:116936365 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1467+11C>A |
single nucleotide variant |
not provided [RCV002178176] |
Chr1:116392999 [GRCh38]
Chr1:116935621 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.363A>G (p.Thr121=) |
single nucleotide variant |
not provided [RCV002157082] |
Chr1:116387467 [GRCh38]
Chr1:116930089 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.183+19G>A |
single nucleotide variant |
not provided [RCV002182180] |
Chr1:116384861 [GRCh38]
Chr1:116927483 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3006C>T (p.Asp1002=) |
single nucleotide variant |
ATP1A1-related disorder [RCV004754867]|not provided [RCV002184408]|not specified [RCV005239314] |
Chr1:116403938 [GRCh38]
Chr1:116946560 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.2849+14G>A |
single nucleotide variant |
not provided [RCV002121544] |
Chr1:116401274 [GRCh38]
Chr1:116943896 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2449-7T>C |
single nucleotide variant |
ATP1A1-related disorder [RCV003893177]|not provided [RCV002198225] |
Chr1:116399413 [GRCh38]
Chr1:116942035 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2181A>G (p.Lys727=) |
single nucleotide variant |
not provided [RCV002081935] |
Chr1:116398677 [GRCh38]
Chr1:116941299 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1527C>T (p.Gly509=) |
single nucleotide variant |
not provided [RCV002164068] |
Chr1:116393590 [GRCh38]
Chr1:116936212 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3044-15C>T |
single nucleotide variant |
not provided [RCV002100941] |
Chr1:116404401 [GRCh38]
Chr1:116947023 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1251C>T (p.Thr417=) |
single nucleotide variant |
not provided [RCV002157059] |
Chr1:116390810 [GRCh38]
Chr1:116933432 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2325C>T (p.Ser775=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003978564]|not provided [RCV002204818] |
Chr1:116398961 [GRCh38]
Chr1:116941583 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1973+9G>A |
single nucleotide variant |
not provided [RCV002142322] |
Chr1:116396743 [GRCh38]
Chr1:116939365 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2957C>T (p.Thr986Ile) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002251099] |
Chr1:116403889 [GRCh38]
Chr1:116946511 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1223-9C>T |
single nucleotide variant |
not provided [RCV002140375] |
Chr1:116390773 [GRCh38]
Chr1:116933395 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.651G>A (p.Ser217=) |
single nucleotide variant |
not provided [RCV002199539] |
Chr1:116388916 [GRCh38]
Chr1:116931538 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1837-14C>G |
single nucleotide variant |
not provided [RCV002144056] |
Chr1:116396584 [GRCh38]
Chr1:116939206 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.12+11G>A |
single nucleotide variant |
not provided [RCV002135414] |
Chr1:116373534 [GRCh38]
Chr1:116916156 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2331T>G (p.Ala777=) |
single nucleotide variant |
not provided [RCV002117726] |
Chr1:116398967 [GRCh38]
Chr1:116941589 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.1940G>A (p.Arg647His) |
single nucleotide variant |
not provided [RCV002119707] |
Chr1:116396701 [GRCh38]
Chr1:116939323 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2125-15C>T |
single nucleotide variant |
not provided [RCV002142903] |
Chr1:116398606 [GRCh38]
Chr1:116941228 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2448+4_2448+7dup |
duplication |
not provided [RCV002217176] |
Chr1:116399084..116399085 [GRCh38]
Chr1:116941706..116941707 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1661-4G>A |
single nucleotide variant |
not provided [RCV002158429] |
Chr1:116395106 [GRCh38]
Chr1:116937728 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.124-12G>A |
single nucleotide variant |
not provided [RCV002178181] |
Chr1:116384771 [GRCh38]
Chr1:116927393 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2294-4A>G |
single nucleotide variant |
not provided [RCV002200624] |
Chr1:116398926 [GRCh38]
Chr1:116941548 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1722C>T (p.Asp574=) |
single nucleotide variant |
not provided [RCV002102686] |
Chr1:116395171 [GRCh38]
Chr1:116937793 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1512G>A (p.Leu504=) |
single nucleotide variant |
not provided [RCV002162196] |
Chr1:116393575 [GRCh38]
Chr1:116936197 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.297G>A (p.Gly99=) |
single nucleotide variant |
not provided [RCV002101326] |
Chr1:116387401 [GRCh38]
Chr1:116930023 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1020C>T (p.Val340=) |
single nucleotide variant |
not provided [RCV002119089] |
Chr1:116389704 [GRCh38]
Chr1:116932326 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1417A>G (p.Arg473Gly) |
single nucleotide variant |
not provided [RCV002218080] |
Chr1:116392938 [GRCh38]
Chr1:116935560 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1998C>T (p.His666=) |
single nucleotide variant |
not provided [RCV002203383] |
Chr1:116397912 [GRCh38]
Chr1:116940534 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1422C>T (p.Tyr474=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003951225]|not provided [RCV002135610] |
Chr1:116392943 [GRCh38]
Chr1:116935565 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.1593T>C (p.Asp531=) |
single nucleotide variant |
not provided [RCV002200008] |
Chr1:116393656 [GRCh38]
Chr1:116936278 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1794C>T (p.Ala598=) |
single nucleotide variant |
not provided [RCV002102206] |
Chr1:116395243 [GRCh38]
Chr1:116937865 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2115C>T (p.Cys705=) |
single nucleotide variant |
not provided [RCV002157954] |
Chr1:116398029 [GRCh38]
Chr1:116940651 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2103T>C (p.Ile701=) |
single nucleotide variant |
not provided [RCV002161872] |
Chr1:116398017 [GRCh38]
Chr1:116940639 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1977T>C (p.Asp659=) |
single nucleotide variant |
not provided [RCV002158399] |
Chr1:116397891 [GRCh38]
Chr1:116940513 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2294-15del |
deletion |
not provided [RCV002123669] |
Chr1:116398915 [GRCh38]
Chr1:116941537 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.792C>G (p.Arg264=) |
single nucleotide variant |
not provided [RCV002156713] |
Chr1:116389476 [GRCh38]
Chr1:116932098 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.39A>G (p.Ala13=) |
single nucleotide variant |
not provided [RCV002156772]|not specified [RCV005057956] |
Chr1:116384040 [GRCh38]
Chr1:116926662 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.2778C>T (p.Ile926=) |
single nucleotide variant |
not provided [RCV002118573] |
Chr1:116401189 [GRCh38]
Chr1:116943811 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2475G>A (p.Glu825=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003923454]|not provided [RCV002176707] |
Chr1:116399446 [GRCh38]
Chr1:116942068 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| NM_000701.8(ATP1A1):c.2718+12C>T |
single nucleotide variant |
not provided [RCV002181813] |
Chr1:116401018 [GRCh38]
Chr1:116943640 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2829G>A (p.Ser943=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003950937]|not provided [RCV002202827] |
Chr1:116401240 [GRCh38]
Chr1:116943862 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.388-15T>G |
single nucleotide variant |
not provided [RCV002182230] |
Chr1:116388116 [GRCh38]
Chr1:116930738 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2739C>T (p.Ile913=) |
single nucleotide variant |
ATP1A1-related disorder [RCV003916338]|not provided [RCV002161299] |
Chr1:116401150 [GRCh38]
Chr1:116943772 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2844G>A (p.Gly948=) |
single nucleotide variant |
not provided [RCV002202840] |
Chr1:116401255 [GRCh38]
Chr1:116943877 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1741G>A (p.Asp581Asn) |
single nucleotide variant |
not provided [RCV003110416] |
Chr1:116395190 [GRCh38]
Chr1:116937812 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2293+4A>C |
single nucleotide variant |
not provided [RCV004786147] |
Chr1:116398793 [GRCh38]
Chr1:116941415 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1881T>C (p.Ile627=) |
single nucleotide variant |
not provided [RCV003114944] |
Chr1:116396642 [GRCh38]
Chr1:116939264 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1837-3C>T |
single nucleotide variant |
not provided [RCV003116156] |
Chr1:116396595 [GRCh38]
Chr1:116939217 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.360_362dup (p.Thr121_Glu122insThr) |
duplication |
not provided [RCV004784720] |
Chr1:116387462..116387463 [GRCh38]
Chr1:116930084..116930085 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2236G>T (p.Ala746Ser) |
single nucleotide variant |
not provided [RCV003120449] |
Chr1:116398732 [GRCh38]
Chr1:116941354 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.221G>A (p.Arg74Gln) |
single nucleotide variant |
not provided [RCV003118998] |
Chr1:116387325 [GRCh38]
Chr1:116929947 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003312093]|Charcot-marie-tooth disease, axonal, type 2DD [RCV003129581] |
Chr1:116395238 [GRCh38]
Chr1:116937860 [GRCh37]
Chr1:1p13.1 |
pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.490A>T (p.Met164Leu) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV004596627] |
Chr1:116388233 [GRCh38]
Chr1:116930855 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1437_1438del (p.Glu479fs) |
microsatellite |
not provided [RCV003235991] |
Chr1:116392956..116392957 [GRCh38]
Chr1:116935578..116935579 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.329T>C (p.Leu110Pro) |
single nucleotide variant |
not provided [RCV003230212] |
Chr1:116387433 [GRCh38]
Chr1:116930055 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1265C>G (p.Ser422Cys) |
single nucleotide variant |
not provided [RCV002293792] |
Chr1:116390824 [GRCh38]
Chr1:116933446 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1999G>A (p.Gly667Ser) |
single nucleotide variant |
not provided [RCV002265184] |
Chr1:116397913 [GRCh38]
Chr1:116940535 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2660G>A (p.Arg887Gln) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV002274478]|not provided [RCV003096172] |
Chr1:116400948 [GRCh38]
Chr1:116943570 [GRCh37]
Chr1:1p13.1 |
likely pathogenic|uncertain significance |
| NM_000701.8(ATP1A1):c.373C>G (p.Pro125Ala) |
single nucleotide variant |
not provided [RCV003236060] |
Chr1:116387477 [GRCh38]
Chr1:116930099 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.863T>C (p.Ile288Thr) |
single nucleotide variant |
not provided [RCV002293769] |
Chr1:116389547 [GRCh38]
Chr1:116932169 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1240A>G (p.Thr414Ala) |
single nucleotide variant |
not provided [RCV002293615] |
Chr1:116390799 [GRCh38]
Chr1:116933421 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.33G>T (p.Glu11Asp) |
single nucleotide variant |
not provided [RCV002297435] |
Chr1:116384034 [GRCh38]
Chr1:116926656 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+3G>T |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV005008515]|not provided [RCV003096338]|not specified [RCV002282835] |
Chr1:116373526 [GRCh38]
Chr1:116916148 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.637-19T>C |
single nucleotide variant |
not provided [RCV003012157] |
Chr1:116388883 [GRCh38]
Chr1:116931505 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1820G>A (p.Arg607Gln) |
single nucleotide variant |
not provided [RCV002296526] |
Chr1:116395269 [GRCh38]
Chr1:116937891 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1970C>G (p.Pro657Arg) |
single nucleotide variant |
not provided [RCV002300346] |
Chr1:116396731 [GRCh38]
Chr1:116939353 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1058G>A (p.Arg353Lys) |
single nucleotide variant |
not provided [RCV002302077] |
Chr1:116390247 [GRCh38]
Chr1:116932869 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1639G>A (p.Gly547Ser) |
single nucleotide variant |
not provided [RCV002301725] |
Chr1:116393702 [GRCh38]
Chr1:116936324 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1576A>G (p.Lys526Glu) |
single nucleotide variant |
not provided [RCV002298263] |
Chr1:116393639 [GRCh38]
Chr1:116936261 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1088C>A (p.Ala363Asp) |
single nucleotide variant |
not provided [RCV002308952] |
Chr1:116390277 [GRCh38]
Chr1:116932899 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2819G>A (p.Arg940Lys) |
single nucleotide variant |
not provided [RCV002296685] |
Chr1:116401230 [GRCh38]
Chr1:116943852 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1018G>C (p.Val340Leu) |
single nucleotide variant |
not provided [RCV002303057] |
Chr1:116389702 [GRCh38]
Chr1:116932324 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1423G>T (p.Ala475Ser) |
single nucleotide variant |
not provided [RCV002302321] |
Chr1:116392944 [GRCh38]
Chr1:116935566 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.62A>G (p.Lys21Arg) |
single nucleotide variant |
not provided [RCV002295159] |
Chr1:116384063 [GRCh38]
Chr1:116926685 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2125-11T>G |
single nucleotide variant |
not provided [RCV002614021] |
Chr1:116398610 [GRCh38]
Chr1:116941232 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2053C>T (p.His685Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002752330] |
Chr1:116397967 [GRCh38]
Chr1:116940589 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3044-11del |
deletion |
not provided [RCV002686399] |
Chr1:116404405 [GRCh38]
Chr1:116947027 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2517C>G (p.Pro839=) |
single nucleotide variant |
not provided [RCV002858609] |
Chr1:116399488 [GRCh38]
Chr1:116942110 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.66G>A (p.Lys22=) |
single nucleotide variant |
not provided [RCV002727038] |
Chr1:116384067 [GRCh38]
Chr1:116926689 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.706C>A (p.Pro236Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002860762] |
Chr1:116388971 [GRCh38]
Chr1:116931593 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.18A>T (p.Gly6=) |
single nucleotide variant |
not provided [RCV002881677] |
Chr1:116384019 [GRCh38]
Chr1:116926641 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2367G>A (p.Pro789=) |
single nucleotide variant |
not provided [RCV002731072] |
Chr1:116399003 [GRCh38]
Chr1:116941625 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1152C>T (p.Asn384=) |
single nucleotide variant |
not provided [RCV002857905] |
Chr1:116390341 [GRCh38]
Chr1:116932963 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1780C>G (p.Pro594Ala) |
single nucleotide variant |
not provided [RCV003032334] |
Chr1:116395229 [GRCh38]
Chr1:116937851 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.637-5T>C |
single nucleotide variant |
not provided [RCV002880459] |
Chr1:116388897 [GRCh38]
Chr1:116931519 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.567T>C (p.Asp189=) |
single nucleotide variant |
not provided [RCV003012191] |
Chr1:116388703 [GRCh38]
Chr1:116931325 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2747T>A (p.Phe916Tyr) |
single nucleotide variant |
not provided [RCV002819648] |
Chr1:116401158 [GRCh38]
Chr1:116943780 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1623C>T (p.Ala541=) |
single nucleotide variant |
not provided [RCV003035171] |
Chr1:116393686 [GRCh38]
Chr1:116936308 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1434C>G (p.Val478=) |
single nucleotide variant |
not provided [RCV002972245] |
Chr1:116392955 [GRCh38]
Chr1:116935577 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1473T>C (p.Ser491=) |
single nucleotide variant |
not provided [RCV002819517] |
Chr1:116393536 [GRCh38]
Chr1:116936158 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1698T>C (p.Pro566=) |
single nucleotide variant |
not provided [RCV002615854] |
Chr1:116395147 [GRCh38]
Chr1:116937769 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.184-17A>G |
single nucleotide variant |
not provided [RCV002755774] |
Chr1:116387271 [GRCh38]
Chr1:116929893 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2024C>G (p.Ser675Cys) |
single nucleotide variant |
not provided [RCV002816089] |
Chr1:116397938 [GRCh38]
Chr1:116940560 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.235G>A (p.Ala79Thr) |
single nucleotide variant |
not provided [RCV002755041] |
Chr1:116387339 [GRCh38]
Chr1:116929961 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.501+17C>A |
single nucleotide variant |
not provided [RCV002971742] |
Chr1:116388261 [GRCh38]
Chr1:116930883 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1304C>G (p.Ala435Gly) |
single nucleotide variant |
not provided [RCV003034969] |
Chr1:116390863 [GRCh38]
Chr1:116933485 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1761G>T (p.Gly587=) |
single nucleotide variant |
not provided [RCV002838967] |
Chr1:116395210 [GRCh38]
Chr1:116937832 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.501+8A>G |
single nucleotide variant |
not provided [RCV002880428] |
Chr1:116388252 [GRCh38]
Chr1:116930874 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2449-16C>T |
single nucleotide variant |
not provided [RCV002614545] |
Chr1:116399404 [GRCh38]
Chr1:116942026 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1661-7_1661-5del |
microsatellite |
not provided [RCV002993701] |
Chr1:116395098..116395100 [GRCh38]
Chr1:116937720..116937722 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1836+9C>T |
single nucleotide variant |
not provided [RCV002839069] |
Chr1:116395294 [GRCh38]
Chr1:116937916 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.145G>T (p.Asp49Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002860801] |
Chr1:116384804 [GRCh38]
Chr1:116927426 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2294-20A>G |
single nucleotide variant |
not provided [RCV002750713] |
Chr1:116398910 [GRCh38]
Chr1:116941532 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2700C>T (p.Asp900=) |
single nucleotide variant |
not provided [RCV003012370] |
Chr1:116400988 [GRCh38]
Chr1:116943610 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2187C>T (p.Asp729=) |
single nucleotide variant |
not provided [RCV002616382] |
Chr1:116398683 [GRCh38]
Chr1:116941305 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1973+3A>G |
single nucleotide variant |
not provided [RCV003014139] |
Chr1:116396737 [GRCh38]
Chr1:116939359 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1491C>T (p.Asn497=) |
single nucleotide variant |
not provided [RCV002617750] |
Chr1:116393554 [GRCh38]
Chr1:116936176 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3043+18G>C |
single nucleotide variant |
not provided [RCV003011792] |
Chr1:116403993 [GRCh38]
Chr1:116946615 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1652G>A (p.Arg551Gln) |
single nucleotide variant |
not provided [RCV002462668] |
Chr1:116393715 [GRCh38]
Chr1:116936337 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2449-3C>T |
single nucleotide variant |
not provided [RCV002903792] |
Chr1:116399417 [GRCh38]
Chr1:116942039 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1246G>C (p.Ala416Pro) |
single nucleotide variant |
not provided [RCV002618327] |
Chr1:116390805 [GRCh38]
Chr1:116933427 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1564C>T (p.Leu522Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002859861] |
Chr1:116393627 [GRCh38]
Chr1:116936249 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2850-14del |
deletion |
not provided [RCV003013308] |
Chr1:116401540 [GRCh38]
Chr1:116944162 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1549_1660+518del |
deletion |
not provided [RCV002881317] |
Chr1:116393609..116394238 [GRCh38]
Chr1:116936231..116936860 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.183+8C>G |
single nucleotide variant |
not provided [RCV003017350] |
Chr1:116384850 [GRCh38]
Chr1:116927472 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1740C>T (p.Ile580=) |
single nucleotide variant |
not provided [RCV002800116] |
Chr1:116395189 [GRCh38]
Chr1:116937811 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.69C>A (p.Gly23=) |
single nucleotide variant |
not provided [RCV003002557] |
Chr1:116384070 [GRCh38]
Chr1:116926692 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1496C>T (p.Ser499Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004064617]|not provided [RCV002593323] |
Chr1:116393559 [GRCh38]
Chr1:116936181 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1566C>T (p.Leu522=) |
single nucleotide variant |
not provided [RCV002740329] |
Chr1:116393629 [GRCh38]
Chr1:116936251 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.144T>C (p.Leu48=) |
single nucleotide variant |
not provided [RCV002871596] |
Chr1:116384803 [GRCh38]
Chr1:116927425 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3031C>T (p.Arg1011Ter) |
single nucleotide variant |
not provided [RCV002871445] |
Chr1:116403963 [GRCh38]
Chr1:116946585 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.560T>C (p.Val187Ala) |
single nucleotide variant |
not provided [RCV002593265] |
Chr1:116388696 [GRCh38]
Chr1:116931318 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1468-18C>T |
single nucleotide variant |
not provided [RCV002740091] |
Chr1:116393513 [GRCh38]
Chr1:116936135 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2718+19C>A |
single nucleotide variant |
not provided [RCV002695916] |
Chr1:116401025 [GRCh38]
Chr1:116943647 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2850-12C>T |
single nucleotide variant |
not provided [RCV003003148] |
Chr1:116401542 [GRCh38]
Chr1:116944164 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1913A>G (p.Asn638Ser) |
single nucleotide variant |
not provided [RCV002824284] |
Chr1:116396674 [GRCh38]
Chr1:116939296 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2573-18G>A |
single nucleotide variant |
not provided [RCV002690759] |
Chr1:116400843 [GRCh38]
Chr1:116943465 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.717G>A (p.Thr239=) |
single nucleotide variant |
not provided [RCV002621024] |
Chr1:116388982 [GRCh38]
Chr1:116931604 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2025C>A (p.Ser675=) |
single nucleotide variant |
not provided [RCV002659232] |
Chr1:116397939 [GRCh38]
Chr1:116940561 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.81A>G (p.Lys27=) |
single nucleotide variant |
not provided [RCV002867872] |
Chr1:116384082 [GRCh38]
Chr1:116926704 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.191C>G (p.Thr64Arg) |
single nucleotide variant |
not provided [RCV002694778] |
Chr1:116387295 [GRCh38]
Chr1:116929917 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.639G>A (p.Val213=) |
single nucleotide variant |
not provided [RCV002639008] |
Chr1:116388904 [GRCh38]
Chr1:116931526 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3042C>T (p.Gly1014=) |
single nucleotide variant |
not provided [RCV002590592] |
Chr1:116403974 [GRCh38]
Chr1:116946596 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1365A>G (p.Ala455=) |
single nucleotide variant |
not provided [RCV002618986] |
Chr1:116392886 [GRCh38]
Chr1:116935508 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.764G>A (p.Arg255His) |
single nucleotide variant |
not provided [RCV002705530] |
Chr1:116389448 [GRCh38]
Chr1:116932070 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2631C>A (p.Gly877=) |
single nucleotide variant |
not provided [RCV002781421] |
Chr1:116400919 [GRCh38]
Chr1:116943541 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1449C>T (p.Asn483=) |
single nucleotide variant |
not provided [RCV002735967] |
Chr1:116392970 [GRCh38]
Chr1:116935592 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.123+8C>T |
single nucleotide variant |
not provided [RCV002705401] |
Chr1:116384132 [GRCh38]
Chr1:116926754 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.336C>T (p.Phe112=) |
single nucleotide variant |
not provided [RCV002690715] |
Chr1:116387440 [GRCh38]
Chr1:116930062 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2025C>G (p.Ser675=) |
single nucleotide variant |
not provided [RCV002848394] |
Chr1:116397939 [GRCh38]
Chr1:116940561 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2601T>C (p.Phe867=) |
single nucleotide variant |
not provided [RCV002622534] |
Chr1:116400889 [GRCh38]
Chr1:116943511 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.93C>T (p.Asp31=) |
single nucleotide variant |
not provided [RCV002636481] |
Chr1:116384094 [GRCh38]
Chr1:116926716 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1232T>G (p.Phe411Cys) |
single nucleotide variant |
not provided [RCV002756997] |
Chr1:116390791 [GRCh38]
Chr1:116933413 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1296G>A (p.Val432=) |
single nucleotide variant |
not provided [RCV002999192] |
Chr1:116390855 [GRCh38]
Chr1:116933477 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1625A>G (p.Tyr542Cys) |
single nucleotide variant |
not provided [RCV002638654] |
Chr1:116393688 [GRCh38]
Chr1:116936310 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1756G>A (p.Val586Ile) |
single nucleotide variant |
not provided [RCV003018666] |
Chr1:116395205 [GRCh38]
Chr1:116937827 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1634T>G (p.Leu545Arg) |
single nucleotide variant |
not provided [RCV003018351] |
Chr1:116393697 [GRCh38]
Chr1:116936319 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.123+19A>C |
single nucleotide variant |
not provided [RCV002621421] |
Chr1:116384143 [GRCh38]
Chr1:116926765 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1467+8G>A |
single nucleotide variant |
not provided [RCV002639628] |
Chr1:116392996 [GRCh38]
Chr1:116935618 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+9A>G |
single nucleotide variant |
not provided [RCV002761547] |
Chr1:116390420 [GRCh38]
Chr1:116933042 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.66GGGCAAAAA[3] (p.Lys28_Asp29insGlyLysLys) |
microsatellite |
not provided [RCV002780938] |
Chr1:116384061..116384062 [GRCh38]
Chr1:116926683..116926684 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2352T>C (p.Ile784=) |
single nucleotide variant |
not provided [RCV002690553] |
Chr1:116398988 [GRCh38]
Chr1:116941610 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.942G>A (p.Glu314=) |
single nucleotide variant |
not provided [RCV003002092] |
Chr1:116389626 [GRCh38]
Chr1:116932248 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2849+12A>G |
single nucleotide variant |
not provided [RCV002690626] |
Chr1:116401272 [GRCh38]
Chr1:116943894 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2721C>T (p.Thr907=) |
single nucleotide variant |
not provided [RCV002667006] |
Chr1:116401132 [GRCh38]
Chr1:116943754 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2297G>A (p.Arg766His) |
single nucleotide variant |
not provided [RCV002626710] |
Chr1:116398933 [GRCh38]
Chr1:116941555 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3013A>T (p.Arg1005Ter) |
single nucleotide variant |
not provided [RCV003024878] |
Chr1:116403945 [GRCh38]
Chr1:116946567 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.744T>C (p.Asn248=) |
single nucleotide variant |
not provided [RCV002710858] |
Chr1:116389009 [GRCh38]
Chr1:116931631 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+12G>A |
single nucleotide variant |
not provided [RCV003041495] |
Chr1:116390423 [GRCh38]
Chr1:116933045 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2769dup (p.Val924fs) |
duplication |
not provided [RCV002853008] |
Chr1:116401179..116401180 [GRCh38]
Chr1:116943801..116943802 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2997C>T (p.Phe999=) |
single nucleotide variant |
not provided [RCV002791017] |
Chr1:116403929 [GRCh38]
Chr1:116946551 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.19C>T (p.Arg7Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002713469]|not provided [RCV003777685] |
Chr1:116384020 [GRCh38]
Chr1:116926642 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2952-13A>C |
single nucleotide variant |
not provided [RCV002894154] |
Chr1:116403871 [GRCh38]
Chr1:116946493 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1986C>G (p.Ala662=) |
single nucleotide variant |
not provided [RCV002666576] |
Chr1:116397900 [GRCh38]
Chr1:116940522 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.870T>C (p.His290=) |
single nucleotide variant |
not provided [RCV002786730] |
Chr1:116389554 [GRCh38]
Chr1:116932176 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1836+20T>C |
single nucleotide variant |
not provided [RCV002594558] |
Chr1:116395305 [GRCh38]
Chr1:116937927 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1661-18C>G |
single nucleotide variant |
not provided [RCV003024837] |
Chr1:116395092 [GRCh38]
Chr1:116937714 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1836+11G>A |
single nucleotide variant |
not provided [RCV002917162] |
Chr1:116395296 [GRCh38]
Chr1:116937918 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.304A>G (p.Met102Val) |
single nucleotide variant |
not provided [RCV003005276] |
Chr1:116387408 [GRCh38]
Chr1:116930030 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2748C>T (p.Phe916=) |
single nucleotide variant |
not provided [RCV002573062] |
Chr1:116401159 [GRCh38]
Chr1:116943781 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1236C>T (p.Asp412=) |
single nucleotide variant |
not provided [RCV002642464] |
Chr1:116390795 [GRCh38]
Chr1:116933417 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1989C>T (p.Cys663=) |
single nucleotide variant |
not provided [RCV002800748] |
Chr1:116397903 [GRCh38]
Chr1:116940525 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2013G>A (p.Lys671=) |
single nucleotide variant |
not provided [RCV002851465] |
Chr1:116397927 [GRCh38]
Chr1:116940549 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.388-16G>A |
single nucleotide variant |
not provided [RCV002765541] |
Chr1:116388115 [GRCh38]
Chr1:116930737 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2610T>C (p.Phe870=) |
single nucleotide variant |
not provided [RCV002574183] |
Chr1:116400898 [GRCh38]
Chr1:116943520 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.791G>A (p.Arg264His) |
single nucleotide variant |
Inborn genetic diseases [RCV002931699]|not provided [RCV003108200] |
Chr1:116389475 [GRCh38]
Chr1:116932097 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.516T>C (p.Ile172=) |
single nucleotide variant |
not provided [RCV002593658] |
Chr1:116388652 [GRCh38]
Chr1:116931274 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.501+4C>T |
single nucleotide variant |
not provided [RCV002928389] |
Chr1:116388248 [GRCh38]
Chr1:116930870 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1458C>T (p.Asn486=) |
single nucleotide variant |
not provided [RCV002643115] |
Chr1:116392979 [GRCh38]
Chr1:116935601 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2987T>C (p.Leu996Pro) |
single nucleotide variant |
not provided [RCV002711484] |
Chr1:116403919 [GRCh38]
Chr1:116946541 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2055C>T (p.His685=) |
single nucleotide variant |
not provided [RCV002741249] |
Chr1:116397969 [GRCh38]
Chr1:116940591 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2448+8T>C |
single nucleotide variant |
not provided [RCV002766177] |
Chr1:116399092 [GRCh38]
Chr1:116941714 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1496C>G (p.Ser499Trp) |
single nucleotide variant |
not provided [RCV002593468] |
Chr1:116393559 [GRCh38]
Chr1:116936181 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2751C>T (p.Thr917=) |
single nucleotide variant |
not provided [RCV002642563] |
Chr1:116401162 [GRCh38]
Chr1:116943784 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.372A>T (p.Glu124Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002608299]|not provided [RCV002593776] |
Chr1:116387476 [GRCh38]
Chr1:116930098 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.339G>C (p.Leu113Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004070650]|not provided [RCV002643844] |
Chr1:116387443 [GRCh38]
Chr1:116930065 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.249T>G (p.Pro83=) |
single nucleotide variant |
not provided [RCV002851010] |
Chr1:116387353 [GRCh38]
Chr1:116929975 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1434C>T (p.Val478=) |
single nucleotide variant |
not provided [RCV003085080] |
Chr1:116392955 [GRCh38]
Chr1:116935577 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1725T>C (p.Asp575=) |
single nucleotide variant |
not provided [RCV002596812] |
Chr1:116395174 [GRCh38]
Chr1:116937796 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1660+12del |
deletion |
not provided [RCV002710742] |
Chr1:116393734 [GRCh38]
Chr1:116936356 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2051A>T (p.Tyr684Phe) |
single nucleotide variant |
not provided [RCV002572451] |
Chr1:116397965 [GRCh38]
Chr1:116940587 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.68G>A (p.Gly23Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002804692] |
Chr1:116384069 [GRCh38]
Chr1:116926691 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1974-5T>A |
single nucleotide variant |
not provided [RCV002958698] |
Chr1:116397883 [GRCh38]
Chr1:116940505 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1836+14G>A |
single nucleotide variant |
not provided [RCV002625508] |
Chr1:116395299 [GRCh38]
Chr1:116937921 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.388-12T>G |
single nucleotide variant |
not provided [RCV002667448] |
Chr1:116388119 [GRCh38]
Chr1:116930741 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.538A>G (p.Ile180Val) |
single nucleotide variant |
not provided [RCV002741804] |
Chr1:116388674 [GRCh38]
Chr1:116931296 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1527C>G (p.Gly509=) |
single nucleotide variant |
not provided [RCV002957758] |
Chr1:116393590 [GRCh38]
Chr1:116936212 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1575C>A (p.Gly525=) |
single nucleotide variant |
not provided [RCV002915052] |
Chr1:116393638 [GRCh38]
Chr1:116936260 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2573-19G>T |
single nucleotide variant |
not provided [RCV002851611] |
Chr1:116400842 [GRCh38]
Chr1:116943464 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2798A>C (p.Asp933Ala) |
single nucleotide variant |
not provided [RCV003022238] |
Chr1:116401209 [GRCh38]
Chr1:116943831 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2448+11C>G |
single nucleotide variant |
not provided [RCV003040289] |
Chr1:116399095 [GRCh38]
Chr1:116941717 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.165T>C (p.Tyr55=) |
single nucleotide variant |
not provided [RCV003064403] |
Chr1:116384824 [GRCh38]
Chr1:116927446 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1947C>T (p.Asn649=) |
single nucleotide variant |
not provided [RCV003091353] |
Chr1:116396708 [GRCh38]
Chr1:116939330 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2232A>G (p.Gln744=) |
single nucleotide variant |
not provided [RCV002650849] |
Chr1:116398728 [GRCh38]
Chr1:116941350 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1837-21_1837-18del |
deletion |
not provided [RCV002900168] |
Chr1:116396577..116396580 [GRCh38]
Chr1:116939199..116939202 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1333-20G>C |
single nucleotide variant |
not provided [RCV003047723] |
Chr1:116392834 [GRCh38]
Chr1:116935456 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3043+20C>T |
single nucleotide variant |
not provided [RCV002810630] |
Chr1:116403995 [GRCh38]
Chr1:116946617 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.546G>A (p.Ala182=) |
single nucleotide variant |
not provided [RCV002602466] |
Chr1:116388682 [GRCh38]
Chr1:116931304 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1048C>T (p.Arg350Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003269233]|not provided [RCV002647123] |
Chr1:116390237 [GRCh38]
Chr1:116932859 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1384C>T (p.Leu462=) |
single nucleotide variant |
not provided [RCV002599077] |
Chr1:116392905 [GRCh38]
Chr1:116935527 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1890T>C (p.Gly630=) |
single nucleotide variant |
not provided [RCV002716297] |
Chr1:116396651 [GRCh38]
Chr1:116939273 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1498G>A (p.Glu500Lys) |
single nucleotide variant |
not provided [RCV002988830] |
Chr1:116393561 [GRCh38]
Chr1:116936183 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1750_1751del (p.Cys584fs) |
microsatellite |
not provided [RCV002877376] |
Chr1:116395197..116395198 [GRCh38]
Chr1:116937819..116937820 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2572+12C>G |
single nucleotide variant |
not provided [RCV002597666] |
Chr1:116399555 [GRCh38]
Chr1:116942177 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1573G>A (p.Gly525Ser) |
single nucleotide variant |
not provided [RCV002597677] |
Chr1:116393636 [GRCh38]
Chr1:116936258 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.755-3A>C |
single nucleotide variant |
not provided [RCV002806966] |
Chr1:116389436 [GRCh38]
Chr1:116932058 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+9C>A |
single nucleotide variant |
not provided [RCV002671018] |
Chr1:116373532 [GRCh38]
Chr1:116916154 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.402G>A (p.Val134=) |
single nucleotide variant |
not provided [RCV002578292] |
Chr1:116388145 [GRCh38]
Chr1:116930767 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.387+20A>G |
single nucleotide variant |
not provided [RCV002577498] |
Chr1:116387511 [GRCh38]
Chr1:116930133 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.577G>A (p.Val193Ile) |
single nucleotide variant |
not provided [RCV003011113] |
Chr1:116388713 [GRCh38]
Chr1:116931335 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1350T>C (p.Asp450=) |
single nucleotide variant |
not provided [RCV002601100] |
Chr1:116392871 [GRCh38]
Chr1:116935493 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.948C>T (p.Thr316=) |
single nucleotide variant |
not provided [RCV002746051] |
Chr1:116389632 [GRCh38]
Chr1:116932254 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1656C>T (p.Val552=) |
single nucleotide variant |
not provided [RCV002675750] |
Chr1:116393719 [GRCh38]
Chr1:116936341 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.198T>C (p.Ala66=) |
single nucleotide variant |
not provided [RCV002922826] |
Chr1:116387302 [GRCh38]
Chr1:116929924 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.123+10A>G |
single nucleotide variant |
not provided [RCV003030161] |
Chr1:116384134 [GRCh38]
Chr1:116926756 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1837-19A>C |
single nucleotide variant |
not provided [RCV002577873] |
Chr1:116396579 [GRCh38]
Chr1:116939201 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1494A>G (p.Thr498=) |
single nucleotide variant |
not provided [RCV002650484] |
Chr1:116393557 [GRCh38]
Chr1:116936179 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1423G>A (p.Ala475Thr) |
single nucleotide variant |
not provided [RCV002966446] |
Chr1:116392944 [GRCh38]
Chr1:116935566 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.387+16C>A |
single nucleotide variant |
not provided [RCV002675826] |
Chr1:116387507 [GRCh38]
Chr1:116930129 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2718+19C>T |
single nucleotide variant |
not provided [RCV002671885] |
Chr1:116401025 [GRCh38]
Chr1:116943647 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1344A>G (p.Ala448=) |
single nucleotide variant |
not provided [RCV002646071] |
Chr1:116392865 [GRCh38]
Chr1:116935487 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.264A>G (p.Glu88=) |
single nucleotide variant |
not provided [RCV002770898] |
Chr1:116387368 [GRCh38]
Chr1:116929990 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.13-11T>C |
single nucleotide variant |
not provided [RCV002876918] |
Chr1:116384003 [GRCh38]
Chr1:116926625 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2448+20C>T |
single nucleotide variant |
not provided [RCV002576736] |
Chr1:116399104 [GRCh38]
Chr1:116941726 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.13-4A>G |
single nucleotide variant |
not provided [RCV003088800] |
Chr1:116384010 [GRCh38]
Chr1:116926632 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.887C>T (p.Thr296Met) |
single nucleotide variant |
not provided [RCV003047322] |
Chr1:116389571 [GRCh38]
Chr1:116932193 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.124-19T>C |
single nucleotide variant |
not provided [RCV002650276] |
Chr1:116384764 [GRCh38]
Chr1:116927386 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1101G>A (p.Leu367=) |
single nucleotide variant |
not provided [RCV002576598] |
Chr1:116390290 [GRCh38]
Chr1:116932912 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.10G>C (p.Gly4Arg) |
single nucleotide variant |
not provided [RCV002645997] |
Chr1:116373521 [GRCh38]
Chr1:116916143 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2867T>A (p.Phe956Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002934252]|not provided [RCV003699001] |
Chr1:116401571 [GRCh38]
Chr1:116944193 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1783C>A (p.Pro595Thr) |
single nucleotide variant |
not provided [RCV003046959] |
Chr1:116395232 [GRCh38]
Chr1:116937854 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.91G>T (p.Asp31Tyr) |
single nucleotide variant |
not provided [RCV003029926] |
Chr1:116384092 [GRCh38]
Chr1:116926714 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2125-1G>C |
single nucleotide variant |
not provided [RCV002856978] |
Chr1:116398620 [GRCh38]
Chr1:116941242 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.507C>T (p.Ala169=) |
single nucleotide variant |
not provided [RCV002716600] |
Chr1:116388643 [GRCh38]
Chr1:116931265 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2803G>T (p.Val935Phe) |
single nucleotide variant |
not provided [RCV002577184] |
Chr1:116401214 [GRCh38]
Chr1:116943836 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1621G>A (p.Ala541Thr) |
single nucleotide variant |
not provided [RCV002791932] |
Chr1:116393684 [GRCh38]
Chr1:116936306 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3035G>A (p.Arg1012His) |
single nucleotide variant |
not provided [RCV002649666] |
Chr1:116403967 [GRCh38]
Chr1:116946589 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1391G>A (p.Cys464Tyr) |
single nucleotide variant |
not provided [RCV003011279] |
Chr1:116392912 [GRCh38]
Chr1:116935534 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2658C>T (p.Leu886=) |
single nucleotide variant |
not provided [RCV002967010] |
Chr1:116400946 [GRCh38]
Chr1:116943568 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1497G>A (p.Ser499=) |
single nucleotide variant |
not provided [RCV002581154] |
Chr1:116393560 [GRCh38]
Chr1:116936182 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+17CA[2] |
microsatellite |
not provided [RCV002671434] |
Chr1:116390428..116390429 [GRCh38]
Chr1:116933050..116933051 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1244C>T (p.Ser415Leu) |
single nucleotide variant |
not provided [RCV002580017] |
Chr1:116390803 [GRCh38]
Chr1:116933425 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.300C>T (p.Phe100=) |
single nucleotide variant |
not provided [RCV002676918] |
Chr1:116387404 [GRCh38]
Chr1:116930026 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2947C>T (p.Leu983Phe) |
single nucleotide variant |
not provided [RCV002814684] |
Chr1:116401651 [GRCh38]
Chr1:116944273 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.408A>G (p.Leu136=) |
single nucleotide variant |
not provided [RCV002583812] |
Chr1:116388151 [GRCh38]
Chr1:116930773 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2850-3del |
deletion |
not provided [RCV002605309] |
Chr1:116401548 [GRCh38]
Chr1:116944170 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2951+16G>A |
single nucleotide variant |
not provided [RCV002634530] |
Chr1:116401671 [GRCh38]
Chr1:116944293 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.220C>A (p.Arg74=) |
single nucleotide variant |
not provided [RCV003050683] |
Chr1:116387324 [GRCh38]
Chr1:116929946 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.501+18C>T |
single nucleotide variant |
not provided [RCV002604377] |
Chr1:116388262 [GRCh38]
Chr1:116930884 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2133C>T (p.Ile711=) |
single nucleotide variant |
not provided [RCV002635405] |
Chr1:116398629 [GRCh38]
Chr1:116941251 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1939C>T (p.Arg647Cys) |
single nucleotide variant |
not provided [RCV002653698] |
Chr1:116396700 [GRCh38]
Chr1:116939322 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2718+6T>G |
single nucleotide variant |
not provided [RCV002587925] |
Chr1:116401012 [GRCh38]
Chr1:116943634 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.975C>T (p.Ile325=) |
single nucleotide variant |
not provided [RCV002606058] |
Chr1:116389659 [GRCh38]
Chr1:116932281 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.256A>G (p.Thr86Ala) |
single nucleotide variant |
not provided [RCV002612939] |
Chr1:116387360 [GRCh38]
Chr1:116929982 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2293+12T>G |
single nucleotide variant |
not provided [RCV002586632] |
Chr1:116398801 [GRCh38]
Chr1:116941423 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.1974-13G>A |
single nucleotide variant |
not provided [RCV002634913] |
Chr1:116397875 [GRCh38]
Chr1:116940497 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2448+9C>T |
single nucleotide variant |
not provided [RCV002680710] |
Chr1:116399093 [GRCh38]
Chr1:116941715 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1620C>T (p.Asn540=) |
single nucleotide variant |
not provided [RCV002607628] |
Chr1:116393683 [GRCh38]
Chr1:116936305 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2926G>A (p.Val976Ile) |
single nucleotide variant |
not provided [RCV003092927] |
Chr1:116401630 [GRCh38]
Chr1:116944252 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2850-7A>G |
single nucleotide variant |
not provided [RCV003069596] |
Chr1:116401547 [GRCh38]
Chr1:116944169 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.324G>A (p.Ala108=) |
single nucleotide variant |
not provided [RCV002611517] |
Chr1:116387428 [GRCh38]
Chr1:116930050 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.513G>A (p.Val171=) |
single nucleotide variant |
not provided [RCV002587417] |
Chr1:116388649 [GRCh38]
Chr1:116931271 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2449-11C>T |
single nucleotide variant |
not provided [RCV002589649] |
Chr1:116399409 [GRCh38]
Chr1:116942031 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1223-19G>A |
single nucleotide variant |
not provided [RCV002612683] |
Chr1:116390763 [GRCh38]
Chr1:116933385 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1157T>C (p.Met386Thr) |
single nucleotide variant |
not provided [RCV004779759] |
Chr1:116390346 [GRCh38]
Chr1:116932968 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1394G>A (p.Gly465Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003216134]|not provided [RCV005061108] |
Chr1:116392915 [GRCh38]
Chr1:116935537 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1450T>C (p.Ser484Pro) |
single nucleotide variant |
not provided [RCV003219062] |
Chr1:116392971 [GRCh38]
Chr1:116935593 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2956A>G (p.Thr986Ala) |
single nucleotide variant |
not provided [RCV003143608] |
Chr1:116403888 [GRCh38]
Chr1:116946510 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1223G>T (p.Gly408Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003194828] |
Chr1:116390782 [GRCh38]
Chr1:116933404 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2152G>A (p.Gly718Ser) |
single nucleotide variant |
not provided [RCV003323097] |
Chr1:116398648 [GRCh38]
Chr1:116941270 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.102A>G (p.Glu34=) |
single nucleotide variant |
not provided [RCV003875671] |
Chr1:116384103 [GRCh38]
Chr1:116926725 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2956_2959dup (p.Trp987fs) |
microsatellite |
not provided [RCV003686108] |
Chr1:116403883..116403884 [GRCh38]
Chr1:116946505..116946506 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2757C>T (p.His919=) |
single nucleotide variant |
not provided [RCV003826354] |
Chr1:116401168 [GRCh38]
Chr1:116943790 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.972C>T (p.Leu324=) |
single nucleotide variant |
not provided [RCV003571720] |
Chr1:116389656 [GRCh38]
Chr1:116932278 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2487T>C (p.Ser829=) |
single nucleotide variant |
not provided [RCV003406697] |
Chr1:116399458 [GRCh38]
Chr1:116942080 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1464C>T (p.Tyr488=) |
single nucleotide variant |
not provided [RCV003406694] |
Chr1:116392985 [GRCh38]
Chr1:116935607 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1398C>T (p.Ser466=) |
single nucleotide variant |
not provided [RCV003406692] |
Chr1:116392919 [GRCh38]
Chr1:116935541 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1024-5T>C |
single nucleotide variant |
not provided [RCV003406691] |
Chr1:116390208 [GRCh38]
Chr1:116932830 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.25A>C (p.Lys9Gln) |
single nucleotide variant |
not provided [RCV003825472] |
Chr1:116384026 [GRCh38]
Chr1:116926648 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2926G>T (p.Val976Phe) |
single nucleotide variant |
ATP1A1-related disorder [RCV003404541] |
Chr1:116401630 [GRCh38]
Chr1:116944252 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.518G>A (p.Arg173Gln) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV003448606] |
Chr1:116388654 [GRCh38]
Chr1:116931276 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2343C>T (p.Thr781=) |
single nucleotide variant |
not provided [RCV003406696] |
Chr1:116398979 [GRCh38]
Chr1:116941601 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1674C>T (p.Leu558=) |
single nucleotide variant |
not provided [RCV003406695] |
Chr1:116395123 [GRCh38]
Chr1:116937745 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV003448843] |
Chr1:116403939 [GRCh38]
Chr1:116946561 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1427A>G (p.Lys476Arg) |
single nucleotide variant |
not provided [RCV003406693] |
Chr1:116392948 [GRCh38]
Chr1:116935570 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1509C>A (p.His503Gln) |
single nucleotide variant |
not provided [RCV003877701] |
Chr1:116393572 [GRCh38]
Chr1:116936194 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2293+14A>C |
single nucleotide variant |
not provided [RCV003578902] |
Chr1:116398803 [GRCh38]
Chr1:116941425 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.89G>A (p.Arg30Lys) |
single nucleotide variant |
not provided [RCV003695793] |
Chr1:116384090 [GRCh38]
Chr1:116926712 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) |
copy number loss |
Seizure [RCV001352640] |
Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12 |
pathogenic |
| NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg) |
single nucleotide variant |
ATP1A1-related disorder [RCV003976156]|not provided [RCV001774150] |
Chr1:116400995 [GRCh38]
Chr1:116943617 [GRCh37]
Chr1:1p13.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000701.8(ATP1A1):c.1836+13C>T |
single nucleotide variant |
not provided [RCV001974083] |
Chr1:116395298 [GRCh38]
Chr1:116937920 [GRCh37]
Chr1:1p13.1 |
likely benign|uncertain significance |
| NM_000701.8(ATP1A1):c.2706C>T (p.Tyr902=) |
single nucleotide variant |
not provided [RCV002132294] |
Chr1:116400994 [GRCh38]
Chr1:116943616 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1143G>A (p.Leu381=) |
single nucleotide variant |
not provided [RCV002123973] |
Chr1:116390332 [GRCh38]
Chr1:116932954 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.754+13del |
deletion |
not provided [RCV002102876] |
Chr1:116389028 [GRCh38]
Chr1:116931650 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV002248975] |
Chr1:116395248 [GRCh38]
Chr1:116937870 [GRCh37]
Chr1:1p13.1 |
likely pathogenic |
| NM_000701.8(ATP1A1):c.123+9T>A |
single nucleotide variant |
not provided [RCV002839155] |
Chr1:116384133 [GRCh38]
Chr1:116926755 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1921G>A (p.Val641Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002756463]|not provided [RCV002756464] |
Chr1:116396682 [GRCh38]
Chr1:116939304 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.123+19A>T |
single nucleotide variant |
not provided [RCV002880359] |
Chr1:116384143 [GRCh38]
Chr1:116926765 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1024-11A>G |
single nucleotide variant |
not provided [RCV002511267] |
Chr1:116390202 [GRCh38]
Chr1:116932824 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.573G>A (p.Val191=) |
single nucleotide variant |
not provided [RCV003002524] |
Chr1:116388709 [GRCh38]
Chr1:116931331 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2678G>A (p.Arg893His) |
single nucleotide variant |
not provided [RCV002621136] |
Chr1:116400966 [GRCh38]
Chr1:116943588 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.66GGGCAAAAA[1] (p.23GKK[1]) |
microsatellite |
not provided [RCV002596348] |
Chr1:116384062..116384070 [GRCh38]
Chr1:116926684..116926692 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.502-20A>C |
single nucleotide variant |
not provided [RCV002895299] |
Chr1:116388618 [GRCh38]
Chr1:116931240 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1344A>C (p.Ala448=) |
single nucleotide variant |
not provided [RCV002963202] |
Chr1:116392865 [GRCh38]
Chr1:116935487 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2125-4G>A |
single nucleotide variant |
not provided [RCV002716001] |
Chr1:116398617 [GRCh38]
Chr1:116941239 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.381C>T (p.Asn127=) |
single nucleotide variant |
not provided [RCV002587279] |
Chr1:116387485 [GRCh38]
Chr1:116930107 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1889G>C (p.Gly630Ala) |
single nucleotide variant |
not provided [RCV003570239] |
Chr1:116396650 [GRCh38]
Chr1:116939272 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1946A>C (p.Asn649Thr) |
single nucleotide variant |
not provided [RCV003570501] |
Chr1:116396707 [GRCh38]
Chr1:116939329 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.20G>T (p.Arg7Leu) |
single nucleotide variant |
not provided [RCV003406690] |
Chr1:116384021 [GRCh38]
Chr1:116926643 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2400A>G (p.Leu800=) |
single nucleotide variant |
not provided [RCV003691487] |
Chr1:116399036 [GRCh38]
Chr1:116941658 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.754+16_754+17delinsTA |
indel |
not provided [RCV003824920] |
Chr1:116389035..116389036 [GRCh38]
Chr1:116931657..116931658 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2951+14C>G |
single nucleotide variant |
not provided [RCV003712731] |
Chr1:116401669 [GRCh38]
Chr1:116944291 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2719-14C>T |
single nucleotide variant |
not provided [RCV003689428] |
Chr1:116401116 [GRCh38]
Chr1:116943738 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.317T>C (p.Ile106Thr) |
single nucleotide variant |
not provided [RCV003693905] |
Chr1:116387421 [GRCh38]
Chr1:116930043 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1167C>G (p.Ala389=) |
single nucleotide variant |
not provided [RCV003696455] |
Chr1:116390356 [GRCh38]
Chr1:116932978 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.219G>C (p.Ala73=) |
single nucleotide variant |
not provided [RCV003691710] |
Chr1:116387323 [GRCh38]
Chr1:116929945 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1912A>G (p.Asn638Asp) |
single nucleotide variant |
not provided [RCV003575662] |
Chr1:116396673 [GRCh38]
Chr1:116939295 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1899C>A (p.Ile633=) |
single nucleotide variant |
not provided [RCV003694406] |
Chr1:116396660 [GRCh38]
Chr1:116939282 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1159A>G (p.Thr387Ala) |
single nucleotide variant |
not provided [RCV003578311] |
Chr1:116390348 [GRCh38]
Chr1:116932970 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.123+19A>G |
single nucleotide variant |
not provided [RCV003663158] |
Chr1:116384143 [GRCh38]
Chr1:116926765 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1982A>G (p.Lys661Arg) |
single nucleotide variant |
not provided [RCV003694602] |
Chr1:116397896 [GRCh38]
Chr1:116940518 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.888G>A (p.Thr296=) |
single nucleotide variant |
not provided [RCV003713282] |
Chr1:116389572 [GRCh38]
Chr1:116932194 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2440A>C (p.Thr814Pro) |
single nucleotide variant |
not provided [RCV003715946] |
Chr1:116399076 [GRCh38]
Chr1:116941698 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.36T>C (p.Pro12=) |
single nucleotide variant |
not provided [RCV003715462] |
Chr1:116384037 [GRCh38]
Chr1:116926659 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3044-13T>C |
single nucleotide variant |
not provided [RCV003877287] |
Chr1:116404403 [GRCh38]
Chr1:116947025 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.144T>G (p.Leu48=) |
single nucleotide variant |
not provided [RCV003575477] |
Chr1:116384803 [GRCh38]
Chr1:116927425 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.636+4G>A |
single nucleotide variant |
not provided [RCV003695881] |
Chr1:116388776 [GRCh38]
Chr1:116931398 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1023+11G>A |
single nucleotide variant |
not provided [RCV003690048] |
Chr1:116389718 [GRCh38]
Chr1:116932340 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1241C>T (p.Thr414Ile) |
single nucleotide variant |
not provided [RCV003577621] |
Chr1:116390800 [GRCh38]
Chr1:116933422 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1415A>G (p.Glu472Gly) |
single nucleotide variant |
not provided [RCV003660287] |
Chr1:116392936 [GRCh38]
Chr1:116935558 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.759C>T (p.Thr253=) |
single nucleotide variant |
not provided [RCV003826345] |
Chr1:116389443 [GRCh38]
Chr1:116932065 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2653G>A (p.Gly885Ser) |
single nucleotide variant |
not provided [RCV003660000] |
Chr1:116400941 [GRCh38]
Chr1:116943563 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3034C>G (p.Arg1012Gly) |
single nucleotide variant |
not provided [RCV003662648] |
Chr1:116403966 [GRCh38]
Chr1:116946588 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1065C>T (p.Asn355=) |
single nucleotide variant |
not provided [RCV003660216] |
Chr1:116390254 [GRCh38]
Chr1:116932876 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.234C>T (p.Asn78=) |
single nucleotide variant |
not provided [RCV003831057] |
Chr1:116387338 [GRCh38]
Chr1:116929960 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1332+13G>A |
single nucleotide variant |
not provided [RCV003828666] |
Chr1:116390904 [GRCh38]
Chr1:116933526 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1071A>G (p.Leu357=) |
single nucleotide variant |
not provided [RCV003878562] |
Chr1:116390260 [GRCh38]
Chr1:116932882 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.882C>T (p.Ile294=) |
single nucleotide variant |
not provided [RCV003575321] |
Chr1:116389566 [GRCh38]
Chr1:116932188 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1340T>C (p.Val447Ala) |
single nucleotide variant |
not provided [RCV003689770] |
Chr1:116392861 [GRCh38]
Chr1:116935483 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2294-16A>G |
single nucleotide variant |
not provided [RCV003690877] |
Chr1:116398914 [GRCh38]
Chr1:116941536 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1931T>C (p.Ile644Thr) |
single nucleotide variant |
not provided [RCV003687759] |
Chr1:116396692 [GRCh38]
Chr1:116939314 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.181C>T (p.Arg61Trp) |
single nucleotide variant |
not provided [RCV003715485] |
Chr1:116384840 [GRCh38]
Chr1:116927462 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1024-9A>G |
single nucleotide variant |
not provided [RCV003879560] |
Chr1:116390204 [GRCh38]
Chr1:116932826 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1103G>C (p.Gly368Ala) |
single nucleotide variant |
not provided [RCV003691298] |
Chr1:116390292 [GRCh38]
Chr1:116932914 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1468-20G>A |
single nucleotide variant |
not provided [RCV003574035] |
Chr1:116393511 [GRCh38]
Chr1:116936133 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1709A>G (p.Gln570Arg) |
single nucleotide variant |
not provided [RCV003545405] |
Chr1:116395158 [GRCh38]
Chr1:116937780 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.13G>A (p.Val5Ile) |
single nucleotide variant |
not provided [RCV003575755] |
Chr1:116384014 [GRCh38]
Chr1:116926636 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1467+10T>C |
single nucleotide variant |
not provided [RCV003880814] |
Chr1:116392998 [GRCh38]
Chr1:116935620 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2859C>A (p.Ile953=) |
single nucleotide variant |
not provided [RCV003712778] |
Chr1:116401563 [GRCh38]
Chr1:116944185 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.124-7C>T |
single nucleotide variant |
not provided [RCV003665926] |
Chr1:116384776 [GRCh38]
Chr1:116927398 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2849+17A>T |
single nucleotide variant |
not provided [RCV003831990] |
Chr1:116401277 [GRCh38]
Chr1:116943899 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2361C>T (p.Ile787=) |
single nucleotide variant |
not provided [RCV003850550] |
Chr1:116398997 [GRCh38]
Chr1:116941619 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.184-18T>C |
single nucleotide variant |
not provided [RCV003697963] |
Chr1:116387270 [GRCh38]
Chr1:116929892 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2998G>A (p.Val1000Ile) |
single nucleotide variant |
not provided [RCV003834075] |
Chr1:116403930 [GRCh38]
Chr1:116946552 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1068C>T (p.Cys356=) |
single nucleotide variant |
not provided [RCV003659206] |
Chr1:116390257 [GRCh38]
Chr1:116932879 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2763C>T (p.Ala921=) |
single nucleotide variant |
not provided [RCV003698040] |
Chr1:116401174 [GRCh38]
Chr1:116943796 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.20G>A (p.Arg7His) |
single nucleotide variant |
not provided [RCV003849944] |
Chr1:116384021 [GRCh38]
Chr1:116926643 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1769C>T (p.Ser590Phe) |
single nucleotide variant |
not provided [RCV003699464] |
Chr1:116395218 [GRCh38]
Chr1:116937840 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+12G>A |
single nucleotide variant |
not provided [RCV003816686] |
Chr1:116373535 [GRCh38]
Chr1:116916157 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.42T>C (p.Ala14=) |
single nucleotide variant |
not provided [RCV003558137] |
Chr1:116384043 [GRCh38]
Chr1:116926665 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2242A>G (p.Met748Val) |
single nucleotide variant |
not provided [RCV003558075] |
Chr1:116398738 [GRCh38]
Chr1:116941360 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1333-19A>T |
single nucleotide variant |
not provided [RCV003667815] |
Chr1:116392835 [GRCh38]
Chr1:116935457 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2448+3G>A |
single nucleotide variant |
not provided [RCV003725839] |
Chr1:116399087 [GRCh38]
Chr1:116941709 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1556G>A (p.Ser519Asn) |
single nucleotide variant |
ATP1A1-related disorder [RCV003909063]|not provided [RCV003666740] |
Chr1:116393619 [GRCh38]
Chr1:116936241 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2124+12C>A |
single nucleotide variant |
not provided [RCV003665525] |
Chr1:116398050 [GRCh38]
Chr1:116940672 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.701A>G (p.Glu234Gly) |
single nucleotide variant |
not provided [RCV003835476] |
Chr1:116388966 [GRCh38]
Chr1:116931588 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2349C>T (p.Asn783=) |
single nucleotide variant |
not provided [RCV003840331] |
Chr1:116398985 [GRCh38]
Chr1:116941607 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.502-11C>G |
single nucleotide variant |
not provided [RCV003856779] |
Chr1:116388627 [GRCh38]
Chr1:116931249 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2850-18C>T |
single nucleotide variant |
not provided [RCV003674155] |
Chr1:116401536 [GRCh38]
Chr1:116944158 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.12+19C>T |
single nucleotide variant |
not provided [RCV003836163] |
Chr1:116373542 [GRCh38]
Chr1:116916164 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.48A>G (p.Ser16=) |
single nucleotide variant |
not provided [RCV003811197] |
Chr1:116384049 [GRCh38]
Chr1:116926671 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1837-13T>A |
single nucleotide variant |
not provided [RCV003673491] |
Chr1:116396585 [GRCh38]
Chr1:116939207 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2835C>T (p.Phe945=) |
single nucleotide variant |
not provided [RCV003703390] |
Chr1:116401246 [GRCh38]
Chr1:116943868 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1251C>G (p.Thr417=) |
single nucleotide variant |
not provided [RCV003666647] |
Chr1:116390810 [GRCh38]
Chr1:116933432 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1261C>G (p.Leu421Val) |
single nucleotide variant |
not provided [RCV003814938] |
Chr1:116390820 [GRCh38]
Chr1:116933442 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1170C>T (p.His390=) |
single nucleotide variant |
not provided [RCV003671643] |
Chr1:116390359 [GRCh38]
Chr1:116932981 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2124+15G>C |
single nucleotide variant |
not provided [RCV003840289] |
Chr1:116398053 [GRCh38]
Chr1:116940675 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1549C>T (p.Arg517Cys) |
single nucleotide variant |
not provided [RCV003672826] |
Chr1:116393612 [GRCh38]
Chr1:116936234 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.777C>T (p.Val259=) |
single nucleotide variant |
not provided [RCV003811732] |
Chr1:116389461 [GRCh38]
Chr1:116932083 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2125-6G>A |
single nucleotide variant |
not provided [RCV003838917] |
Chr1:116398615 [GRCh38]
Chr1:116941237 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1671C>A (p.His557Gln) |
single nucleotide variant |
not provided [RCV003700903] |
Chr1:116395120 [GRCh38]
Chr1:116937742 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2607C>T (p.Tyr869=) |
single nucleotide variant |
not provided [RCV003816481] |
Chr1:116400895 [GRCh38]
Chr1:116943517 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1944C>A (p.Leu648=) |
single nucleotide variant |
not provided [RCV003697191] |
Chr1:116396705 [GRCh38]
Chr1:116939327 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.34C>T (p.Pro12Ser) |
single nucleotide variant |
not provided [RCV003701295] |
Chr1:116384035 [GRCh38]
Chr1:116926657 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.933C>A (p.Leu311=) |
single nucleotide variant |
not provided [RCV003817247] |
Chr1:116389617 [GRCh38]
Chr1:116932239 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1032G>A (p.Leu344=) |
single nucleotide variant |
not provided [RCV003832809] |
Chr1:116390221 [GRCh38]
Chr1:116932843 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1023+16T>C |
single nucleotide variant |
not provided [RCV003813819] |
Chr1:116389723 [GRCh38]
Chr1:116932345 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.38C>A (p.Ala13Glu) |
single nucleotide variant |
not provided [RCV003665847] |
Chr1:116384039 [GRCh38]
Chr1:116926661 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1836+5T>G |
single nucleotide variant |
not provided [RCV003549948] |
Chr1:116395290 [GRCh38]
Chr1:116937912 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1409T>C (p.Met470Thr) |
single nucleotide variant |
not provided [RCV003836731] |
Chr1:116392930 [GRCh38]
Chr1:116935552 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1023+18G>A |
single nucleotide variant |
not provided [RCV003836914] |
Chr1:116389725 [GRCh38]
Chr1:116932347 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.637-3T>C |
single nucleotide variant |
not provided [RCV003667120] |
Chr1:116388899 [GRCh38]
Chr1:116931521 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2849+3A>G |
single nucleotide variant |
not provided [RCV003672186] |
Chr1:116401263 [GRCh38]
Chr1:116943885 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2427C>T (p.Cys809=) |
single nucleotide variant |
not provided [RCV003671477] |
Chr1:116399063 [GRCh38]
Chr1:116941685 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.990C>T (p.Ala330=) |
single nucleotide variant |
not provided [RCV003835462] |
Chr1:116389674 [GRCh38]
Chr1:116932296 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.698A>G (p.Asn233Ser) |
single nucleotide variant |
not provided [RCV003850821] |
Chr1:116388963 [GRCh38]
Chr1:116931585 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2924G>T (p.Gly975Val) |
single nucleotide variant |
not provided [RCV003672538] |
Chr1:116401628 [GRCh38]
Chr1:116944250 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2374A>T (p.Ile792Leu) |
single nucleotide variant |
not provided [RCV003667844] |
Chr1:116399010 [GRCh38]
Chr1:116941632 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2163C>T (p.Asp721=) |
single nucleotide variant |
not provided [RCV003667393] |
Chr1:116398659 [GRCh38]
Chr1:116941281 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2449-19_2449-17del |
deletion |
not provided [RCV003711995] |
Chr1:116399399..116399401 [GRCh38]
Chr1:116942021..116942023 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2061G>A (p.Glu687=) |
single nucleotide variant |
not provided [RCV003823870] |
Chr1:116397975 [GRCh38]
Chr1:116940597 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1726G>C (p.Val576Leu) |
single nucleotide variant |
not provided [RCV003858547] |
Chr1:116395175 [GRCh38]
Chr1:116937797 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2328T>C (p.Ile776=) |
single nucleotide variant |
not provided [RCV003567800] |
Chr1:116398964 [GRCh38]
Chr1:116941586 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+11G>T |
single nucleotide variant |
not provided [RCV003824041] |
Chr1:116390422 [GRCh38]
Chr1:116933044 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.2184A>G (p.Ala728=) |
single nucleotide variant |
not provided [RCV003728568] |
Chr1:116398680 [GRCh38]
Chr1:116941302 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1939C>G (p.Arg647Gly) |
single nucleotide variant |
not provided [RCV003681185] |
Chr1:116396700 [GRCh38]
Chr1:116939322 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2124+10C>T |
single nucleotide variant |
not provided [RCV003861229] |
Chr1:116398048 [GRCh38]
Chr1:116940670 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1938C>A (p.Ala646=) |
single nucleotide variant |
not provided [RCV003567943] |
Chr1:116396699 [GRCh38]
Chr1:116939321 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.145G>C (p.Asp49His) |
single nucleotide variant |
not provided [RCV003551064] |
Chr1:116384804 [GRCh38]
Chr1:116927426 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2139T>C (p.Ala713=) |
single nucleotide variant |
not provided [RCV003683077] |
Chr1:116398635 [GRCh38]
Chr1:116941257 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.966C>A (p.Ile322=) |
single nucleotide variant |
not provided [RCV003857533] |
Chr1:116389650 [GRCh38]
Chr1:116932272 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1932T>C (p.Ile644=) |
single nucleotide variant |
not provided [RCV003858807] |
Chr1:116396693 [GRCh38]
Chr1:116939315 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2325C>G (p.Ser775=) |
single nucleotide variant |
not provided [RCV003678042] |
Chr1:116398961 [GRCh38]
Chr1:116941583 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.727G>A (p.Ala243Thr) |
single nucleotide variant |
not provided [RCV003729800] |
Chr1:116388992 [GRCh38]
Chr1:116931614 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1836+6G>T |
single nucleotide variant |
not provided [RCV003841186] |
Chr1:116395291 [GRCh38]
Chr1:116937913 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2849+19G>A |
single nucleotide variant |
not provided [RCV003681467] |
Chr1:116401279 [GRCh38]
Chr1:116943901 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1973+16C>G |
single nucleotide variant |
not provided [RCV003681488] |
Chr1:116396750 [GRCh38]
Chr1:116939372 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2125-16C>T |
single nucleotide variant |
not provided [RCV003843634] |
Chr1:116398605 [GRCh38]
Chr1:116941227 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1661-19G>C |
single nucleotide variant |
not provided [RCV003553478] |
Chr1:116395091 [GRCh38]
Chr1:116937713 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+9A>C |
single nucleotide variant |
not provided [RCV003733088] |
Chr1:116390420 [GRCh38]
Chr1:116933042 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1608C>G (p.Asp536Glu) |
single nucleotide variant |
not provided [RCV003706055] |
Chr1:116393671 [GRCh38]
Chr1:116936293 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1418G>T (p.Arg473Ile) |
single nucleotide variant |
not provided [RCV003678418] |
Chr1:116392939 [GRCh38]
Chr1:116935561 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1836+16C>T |
single nucleotide variant |
not provided [RCV003679484] |
Chr1:116395301 [GRCh38]
Chr1:116937923 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1588C>T (p.Leu530=) |
single nucleotide variant |
not provided [RCV003734282] |
Chr1:116393651 [GRCh38]
Chr1:116936273 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.283C>T (p.Gln95Ter) |
single nucleotide variant |
not provided [RCV003568553] |
Chr1:116387387 [GRCh38]
Chr1:116930009 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.754+2dup |
duplication |
not provided [RCV003680903] |
Chr1:116389020..116389021 [GRCh38]
Chr1:116931642..116931643 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2719-18_2719-17dup |
duplication |
not provided [RCV003709493] |
Chr1:116401110..116401111 [GRCh38]
Chr1:116943732..116943733 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1660+8del |
deletion |
not provided [RCV003846693] |
Chr1:116393731 [GRCh38]
Chr1:116936353 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1223-7C>T |
single nucleotide variant |
not provided [RCV003685404] |
Chr1:116390775 [GRCh38]
Chr1:116933397 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.543T>C (p.Asn181=) |
single nucleotide variant |
not provided [RCV003844953] |
Chr1:116388679 [GRCh38]
Chr1:116931301 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2952-8A>G |
single nucleotide variant |
not provided [RCV003557498] |
Chr1:116403876 [GRCh38]
Chr1:116946498 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.124-18G>A |
single nucleotide variant |
not provided [RCV003711892] |
Chr1:116384765 [GRCh38]
Chr1:116927387 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1206G>T (p.Thr402=) |
single nucleotide variant |
not provided [RCV003719594] |
Chr1:116390395 [GRCh38]
Chr1:116933017 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3018A>G (p.Lys1006=) |
single nucleotide variant |
not provided [RCV003867953] |
Chr1:116403950 [GRCh38]
Chr1:116946572 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1424C>T (p.Ala475Val) |
single nucleotide variant |
not provided [RCV003683303] |
Chr1:116392945 [GRCh38]
Chr1:116935567 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2719-16G>T |
single nucleotide variant |
not provided [RCV003868333] |
Chr1:116401114 [GRCh38]
Chr1:116943736 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2952-16C>T |
single nucleotide variant |
not provided [RCV003860437] |
Chr1:116403868 [GRCh38]
Chr1:116946490 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2769C>T (p.Phe923=) |
single nucleotide variant |
not provided [RCV003846041] |
Chr1:116401180 [GRCh38]
Chr1:116943802 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.492G>A (p.Met164Ile) |
single nucleotide variant |
not provided [RCV003541968] |
Chr1:116388235 [GRCh38]
Chr1:116930857 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.636+18A>G |
single nucleotide variant |
not provided [RCV003867990] |
Chr1:116388790 [GRCh38]
Chr1:116931412 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.783T>C (p.Thr261=) |
single nucleotide variant |
not provided [RCV003864900] |
Chr1:116389467 [GRCh38]
Chr1:116932089 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1680G>A (p.Leu560=) |
single nucleotide variant |
not provided [RCV003872208] |
Chr1:116395129 [GRCh38]
Chr1:116937751 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2221G>A (p.Val741Met) |
single nucleotide variant |
not provided [RCV003557107] |
Chr1:116398717 [GRCh38]
Chr1:116941339 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1281T>C (p.Leu427=) |
single nucleotide variant |
not provided [RCV003868938] |
Chr1:116390840 [GRCh38]
Chr1:116933462 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2118A>G (p.Gln706=) |
single nucleotide variant |
not provided [RCV003862948] |
Chr1:116398032 [GRCh38]
Chr1:116940654 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1660+4_1660+12dup |
duplication |
not provided [RCV003868389] |
Chr1:116393725..116393726 [GRCh38]
Chr1:116936347..116936348 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1746T>G (p.Asn582Lys) |
single nucleotide variant |
not provided [RCV003729629] |
Chr1:116395195 [GRCh38]
Chr1:116937817 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1431C>T (p.Ile477=) |
single nucleotide variant |
not provided [RCV003840774] |
Chr1:116392952 [GRCh38]
Chr1:116935574 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2125-4G>T |
single nucleotide variant |
not provided [RCV003542690] |
Chr1:116398617 [GRCh38]
Chr1:116941239 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2121A>G (p.Arg707=) |
single nucleotide variant |
not provided [RCV003555715] |
Chr1:116398035 [GRCh38]
Chr1:116940657 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1074G>C (p.Val358=) |
single nucleotide variant |
not provided [RCV003868449] |
Chr1:116390263 [GRCh38]
Chr1:116932885 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1222+6G>A |
single nucleotide variant |
not provided [RCV003706532] |
Chr1:116390417 [GRCh38]
Chr1:116933039 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.981C>T (p.Ile327=) |
single nucleotide variant |
not provided [RCV003870269] |
Chr1:116389665 [GRCh38]
Chr1:116932287 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.218C>T (p.Ala73Val) |
single nucleotide variant |
not provided [RCV003722056] |
Chr1:116387322 [GRCh38]
Chr1:116929944 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.123+13A>C |
single nucleotide variant |
not provided [RCV003867806] |
Chr1:116384137 [GRCh38]
Chr1:116926759 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2727G>T (p.Glu909Asp) |
single nucleotide variant |
not provided [RCV003710831] |
Chr1:116401138 [GRCh38]
Chr1:116943760 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.9G>A (p.Lys3=) |
single nucleotide variant |
not provided [RCV003677837] |
Chr1:116373520 [GRCh38]
Chr1:116916142 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2934dup (p.Arg979Ter) |
duplication |
not provided [RCV003708983] |
Chr1:116401636..116401637 [GRCh38]
Chr1:116944258..116944259 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.945C>T (p.Tyr315=) |
single nucleotide variant |
not provided [RCV003721904] |
Chr1:116389629 [GRCh38]
Chr1:116932251 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.696A>T (p.Thr232=) |
single nucleotide variant |
not provided [RCV003564184] |
Chr1:116388961 [GRCh38]
Chr1:116931583 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1548C>T (p.Asp516=) |
single nucleotide variant |
not provided [RCV003709078] |
Chr1:116393611 [GRCh38]
Chr1:116936233 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1452C>A (p.Ser484=) |
single nucleotide variant |
not provided [RCV003848280] |
Chr1:116392973 [GRCh38]
Chr1:116935595 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2226C>G (p.Ser742=) |
single nucleotide variant |
not provided [RCV003553736] |
Chr1:116398722 [GRCh38]
Chr1:116941344 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1468-9C>G |
single nucleotide variant |
not provided [RCV003847082] |
Chr1:116393522 [GRCh38]
Chr1:116936144 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1196A>G (p.Glu399Gly) |
single nucleotide variant |
not provided [RCV003680626] |
Chr1:116390385 [GRCh38]
Chr1:116933007 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1242T>C (p.Thr414=) |
single nucleotide variant |
not provided [RCV003862086] |
Chr1:116390801 [GRCh38]
Chr1:116933423 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2886A>G (p.Thr962=) |
single nucleotide variant |
not provided [RCV003711634] |
Chr1:116401590 [GRCh38]
Chr1:116944212 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.774T>G (p.Val258=) |
single nucleotide variant |
not provided [RCV003568504] |
Chr1:116389458 [GRCh38]
Chr1:116932080 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2688C>T (p.Asn896=) |
single nucleotide variant |
not provided [RCV003556929] |
Chr1:116400976 [GRCh38]
Chr1:116943598 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.993T>C (p.Asn331=) |
single nucleotide variant |
not provided [RCV003552644] |
Chr1:116389677 [GRCh38]
Chr1:116932299 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2124+13A>G |
single nucleotide variant |
not provided [RCV003848586] |
Chr1:116398051 [GRCh38]
Chr1:116940673 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2719-15T>C |
single nucleotide variant |
not provided [RCV003856819] |
Chr1:116401115 [GRCh38]
Chr1:116943737 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1813A>C (p.Lys605Gln) |
single nucleotide variant |
not provided [RCV003552839] |
Chr1:116395262 [GRCh38]
Chr1:116937884 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1161A>C (p.Thr387=) |
single nucleotide variant |
not provided [RCV003732365] |
Chr1:116390350 [GRCh38]
Chr1:116932972 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1974-14T>G |
single nucleotide variant |
not provided [RCV003847817] |
Chr1:116397874 [GRCh38]
Chr1:116940496 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1011G>C (p.Leu337=) |
single nucleotide variant |
not provided [RCV003670700] |
Chr1:116389695 [GRCh38]
Chr1:116932317 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2989_2991del (p.Leu997del) |
deletion |
not provided [RCV003846366] |
Chr1:116403921..116403923 [GRCh38]
Chr1:116946543..116946545 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2403A>G (p.Pro801=) |
single nucleotide variant |
not provided [RCV003858447] |
Chr1:116399039 [GRCh38]
Chr1:116941661 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.984C>T (p.Ile328=) |
single nucleotide variant |
not provided [RCV003842133] |
Chr1:116389668 [GRCh38]
Chr1:116932290 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.758C>T (p.Thr253Ile) |
single nucleotide variant |
not provided [RCV003550414] |
Chr1:116389442 [GRCh38]
Chr1:116932064 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2984C>G (p.Ser995Cys) |
single nucleotide variant |
not provided [RCV003707792] |
Chr1:116403916 [GRCh38]
Chr1:116946538 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.676A>C (p.Thr226Pro) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV005052073]|not provided [RCV003854053] |
Chr1:116388941 [GRCh38]
Chr1:116931563 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2572+9C>T |
single nucleotide variant |
not provided [RCV003861483] |
Chr1:116399552 [GRCh38]
Chr1:116942174 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.12+8T>G |
single nucleotide variant |
not provided [RCV003820455] |
Chr1:116373531 [GRCh38]
Chr1:116916153 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2026G>A (p.Glu676Lys) |
single nucleotide variant |
not provided [RCV003841311] |
Chr1:116397940 [GRCh38]
Chr1:116940562 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3044G>T (p.Gly1015Val) |
single nucleotide variant |
ATP1A1-related disorder [RCV003894486] |
Chr1:116404416 [GRCh38]
Chr1:116947038 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.739A>G (p.Thr247Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004425844] |
Chr1:116389004 [GRCh38]
Chr1:116931626 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1144A>G (p.Thr382Ala) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV004555320] |
Chr1:116390333 [GRCh38]
Chr1:116932955 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+710dup |
duplication |
not provided [RCV004722082] |
Chr1:116374231..116374232 [GRCh38]
Chr1:116916853..116916854 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.821C>G (p.Ala274Gly) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV004560512] |
Chr1:116389505 [GRCh38]
Chr1:116932127 [GRCh37]
Chr1:1p13.1 |
likely pathogenic |
| NM_000701.8(ATP1A1):c.1888G>C (p.Gly630Arg) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV003991222] |
Chr1:116396649 [GRCh38]
Chr1:116939271 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2021C>T (p.Thr674Ile) |
single nucleotide variant |
ATP1A1-related disorder [RCV004755052]|not provided [RCV004592239] |
Chr1:116397935 [GRCh38]
Chr1:116940557 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2629G>A (p.Gly877Ser) |
single nucleotide variant |
not provided [RCV004597282] |
Chr1:116400917 [GRCh38]
Chr1:116943539 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NC_000001.10:g.(?_116243862)_(116947066_?)dup |
duplication |
not provided [RCV004579067] |
Chr1:116243862..116947066 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1028G>A (p.Cys343Tyr) |
single nucleotide variant |
not provided [RCV004698330] |
Chr1:116390217 [GRCh38]
Chr1:116932839 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1660+1G>A |
single nucleotide variant |
not provided [RCV004698331] |
Chr1:116393724 [GRCh38]
Chr1:116936346 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.413C>G (p.Ala138Gly) |
single nucleotide variant |
ATP1A1-related disorder [RCV004755056]|Inborn genetic diseases [RCV004677316] |
Chr1:116388156 [GRCh38]
Chr1:116930778 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.979ATC[1] (p.Ile328del) |
microsatellite |
not provided [RCV004598971] |
Chr1:116389663..116389665 [GRCh38]
Chr1:116932285..116932287 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.963C>A (p.Val321=) |
single nucleotide variant |
not provided [RCV004576026] |
Chr1:116389647 [GRCh38]
Chr1:116932269 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2162A>G (p.Asp721Gly) |
single nucleotide variant |
not provided [RCV004771329] |
Chr1:116398658 [GRCh38]
Chr1:116941280 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+719del |
deletion |
not provided [RCV004781078] |
Chr1:116374241 [GRCh38]
Chr1:116916863 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2330C>G (p.Ala777Gly) |
single nucleotide variant |
not provided [RCV004781404] |
Chr1:116398966 [GRCh38]
Chr1:116941588 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1467+23G>A |
single nucleotide variant |
not provided [RCV004810986] |
Chr1:116393011 [GRCh38]
Chr1:116935633 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2265T>A (p.Phe755Leu) |
single nucleotide variant |
not provided [RCV004769065] |
Chr1:116398761 [GRCh38]
Chr1:116941383 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2761G>C (p.Ala921Pro) |
single nucleotide variant |
not provided [RCV004769540] |
Chr1:116401172 [GRCh38]
Chr1:116943794 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3062C>T (p.Thr1021Ile) |
single nucleotide variant |
not provided [RCV004769453] |
Chr1:116404434 [GRCh38]
Chr1:116947056 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.221G>C (p.Arg74Pro) |
single nucleotide variant |
not provided [RCV004812067] |
Chr1:116387325 [GRCh38]
Chr1:116929947 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2692G>A (p.Val898Met) |
single nucleotide variant |
not provided [RCV004763081] |
|
uncertain significance |
| NM_000701.8(ATP1A1):c.457A>G (p.Lys153Glu) |
single nucleotide variant |
not provided [RCV004772169] |
Chr1:116388200 [GRCh38]
Chr1:116930822 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1896C>T (p.Gly632=) |
single nucleotide variant |
ATP1A1-related disorder [RCV004732265] |
Chr1:116396657 [GRCh38]
Chr1:116939279 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2132T>G (p.Ile711Ser) |
single nucleotide variant |
not provided [RCV004769189] |
Chr1:116398628 [GRCh38]
Chr1:116941250 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.923T>G (p.Ile308Ser) |
single nucleotide variant |
not provided [RCV004769193] |
Chr1:116389607 [GRCh38]
Chr1:116932229 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.388-8C>T |
single nucleotide variant |
not provided [RCV004722655] |
Chr1:116388123 [GRCh38]
Chr1:116930745 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1919C>A (p.Thr640Asn) |
single nucleotide variant |
ATP1A1-related disorder [RCV004732022] |
Chr1:116396680 [GRCh38]
Chr1:116939302 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.343del (p.Tyr115fs) |
deletion |
ATP1A1-related disorder [RCV004732449] |
Chr1:116387446 [GRCh38]
Chr1:116930068 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2720C>T (p.Thr907Ile) |
single nucleotide variant |
not provided [RCV004770995] |
Chr1:116401131 [GRCh38]
Chr1:116943753 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.886A>G (p.Thr296Ala) |
single nucleotide variant |
not provided [RCV004760188] |
|
uncertain significance |
| NM_000701.8(ATP1A1):c.1277G>C (p.Gly426Ala) |
single nucleotide variant |
not provided [RCV004768275] |
Chr1:116390836 [GRCh38]
Chr1:116933458 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.746G>A (p.Cys249Tyr) |
single nucleotide variant |
not provided [RCV004820561] |
Chr1:116389011 [GRCh38]
Chr1:116931633 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2285T>C (p.Val762Ala) |
single nucleotide variant |
not provided [RCV005004621] |
Chr1:116398781 [GRCh38]
Chr1:116941403 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.205G>A (p.Ala69Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004971764] |
Chr1:116387309 [GRCh38]
Chr1:116929931 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.620C>T (p.Ser207Phe) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV004999142] |
Chr1:116388756 [GRCh38]
Chr1:116931378 [GRCh37]
Chr1:1p13.1 |
likely pathogenic |
| NM_000701.8(ATP1A1):c.2969G>A (p.Cys990Tyr) |
single nucleotide variant |
not provided [RCV005001508] |
Chr1:116403901 [GRCh38]
Chr1:116946523 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.957G>A (p.Glu319=) |
single nucleotide variant |
not provided [RCV005196641] |
Chr1:116389641 [GRCh38]
Chr1:116932263 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1332+10A>G |
single nucleotide variant |
not provided [RCV005175390] |
Chr1:116390901 [GRCh38]
Chr1:116933523 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3034C>T (p.Arg1012Cys) |
single nucleotide variant |
not provided [RCV005063909] |
Chr1:116403966 [GRCh38]
Chr1:116946588 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2449-9C>G |
single nucleotide variant |
not provided [RCV005146126] |
Chr1:116399411 [GRCh38]
Chr1:116942033 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3043+15T>A |
single nucleotide variant |
not provided [RCV005088950] |
Chr1:116403990 [GRCh38]
Chr1:116946612 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1655T>C (p.Val552Ala) |
single nucleotide variant |
not provided [RCV005173352] |
Chr1:116393718 [GRCh38]
Chr1:116936340 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2589G>A (p.Leu863=) |
single nucleotide variant |
not provided [RCV005063968] |
Chr1:116400877 [GRCh38]
Chr1:116943499 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.996G>A (p.Val332=) |
single nucleotide variant |
not provided [RCV005172409] |
Chr1:116389680 [GRCh38]
Chr1:116932302 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2448+13A>G |
single nucleotide variant |
not provided [RCV005064493] |
Chr1:116399097 [GRCh38]
Chr1:116941719 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1006T>C (p.Leu336=) |
single nucleotide variant |
not provided [RCV005172317] |
Chr1:116389690 [GRCh38]
Chr1:116932312 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1974-9T>A |
single nucleotide variant |
not provided [RCV005170532] |
Chr1:116397879 [GRCh38]
Chr1:116940501 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1580A>C (p.Glu527Ala) |
single nucleotide variant |
not provided [RCV005171165] |
Chr1:116393643 [GRCh38]
Chr1:116936265 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1333-4A>T |
single nucleotide variant |
not provided [RCV005174480] |
Chr1:116392850 [GRCh38]
Chr1:116935472 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1362A>G (p.Ser454=) |
single nucleotide variant |
not provided [RCV005066973] |
Chr1:116392883 [GRCh38]
Chr1:116935505 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1488C>T (p.Pro496=) |
single nucleotide variant |
not provided [RCV005105540] |
Chr1:116393551 [GRCh38]
Chr1:116936173 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2644C>T (p.His882Tyr) |
single nucleotide variant |
not provided [RCV005146048] |
Chr1:116400932 [GRCh38]
Chr1:116943554 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2154T>C (p.Gly718=) |
single nucleotide variant |
not provided [RCV005122745] |
Chr1:116398650 [GRCh38]
Chr1:116941272 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2967C>G (p.Phe989Leu) |
single nucleotide variant |
not provided [RCV005155003] |
Chr1:116403899 [GRCh38]
Chr1:116946521 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.102A>C (p.Glu34Asp) |
single nucleotide variant |
not provided [RCV005184557] |
Chr1:116384103 [GRCh38]
Chr1:116926725 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.809T>C (p.Ile270Thr) |
single nucleotide variant |
not provided [RCV005119023] |
Chr1:116389493 [GRCh38]
Chr1:116932115 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.288C>T (p.Leu96=) |
single nucleotide variant |
not provided [RCV005119024] |
Chr1:116387392 [GRCh38]
Chr1:116930014 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.620C>A (p.Ser207Tyr) |
single nucleotide variant |
not provided [RCV005197895] |
Chr1:116388756 [GRCh38]
Chr1:116931378 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.521A>G (p.Asn174Ser) |
single nucleotide variant |
not provided [RCV005161118] |
Chr1:116388657 [GRCh38]
Chr1:116931279 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1052T>C (p.Met351Thr) |
single nucleotide variant |
not provided [RCV005115609] |
Chr1:116390241 [GRCh38]
Chr1:116932863 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+5G>C |
single nucleotide variant |
not provided [RCV005123452] |
Chr1:116373528 [GRCh38]
Chr1:116916150 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2406G>A (p.Leu802=) |
single nucleotide variant |
not provided [RCV005199688] |
Chr1:116399042 [GRCh38]
Chr1:116941664 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2979C>T (p.Pro993=) |
single nucleotide variant |
not provided [RCV005076012] |
Chr1:116403911 [GRCh38]
Chr1:116946533 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1899C>T (p.Ile633=) |
single nucleotide variant |
not provided [RCV005117995] |
Chr1:116396660 [GRCh38]
Chr1:116939282 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1333-14G>A |
single nucleotide variant |
not provided [RCV005072903] |
Chr1:116392840 [GRCh38]
Chr1:116935462 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2392A>G (p.Ile798Val) |
single nucleotide variant |
not provided [RCV003578829] |
Chr1:116399028 [GRCh38]
Chr1:116941650 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.286C>G (p.Leu96Val) |
single nucleotide variant |
not provided [RCV003689234] |
Chr1:116387390 [GRCh38]
Chr1:116930012 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.636+7_636+8del |
microsatellite |
not provided [RCV003573616] |
Chr1:116388777..116388778 [GRCh38]
Chr1:116931399..116931400 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1974-3T>C |
single nucleotide variant |
not provided [RCV003699707] |
Chr1:116397885 [GRCh38]
Chr1:116940507 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1332+13del |
deletion |
not provided [RCV003671420] |
Chr1:116390904 [GRCh38]
Chr1:116933526 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2817C>T (p.Thr939=) |
single nucleotide variant |
not provided [RCV003676989] |
Chr1:116401228 [GRCh38]
Chr1:116943850 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys) |
single nucleotide variant |
Charcot-marie-tooth disease, axonal, type 2DD [RCV004555917]|not provided [RCV003846529] |
Chr1:116393601 [GRCh38]
Chr1:116936223 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1718C>A (p.Thr573Asn) |
single nucleotide variant |
not provided [RCV003846897] |
Chr1:116395167 [GRCh38]
Chr1:116937789 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.286C>T (p.Leu96Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004425842] |
Chr1:116387390 [GRCh38]
Chr1:116930012 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.620C>G (p.Ser207Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004425843] |
Chr1:116388756 [GRCh38]
Chr1:116931378 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.200G>A (p.Arg67His) |
single nucleotide variant |
not provided [RCV005148487] |
Chr1:116387304 [GRCh38]
Chr1:116929926 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1166C>A (p.Ala389Asp) |
single nucleotide variant |
not provided [RCV005133029] |
Chr1:116390355 [GRCh38]
Chr1:116932977 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.327T>G (p.Ile109Met) |
single nucleotide variant |
not provided [RCV005078233] |
Chr1:116387431 [GRCh38]
Chr1:116930053 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1024-15C>T |
single nucleotide variant |
not provided [RCV005125935] |
Chr1:116390198 [GRCh38]
Chr1:116932820 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.13-17C>T |
single nucleotide variant |
not provided [RCV005123015] |
Chr1:116383997 [GRCh38]
Chr1:116926619 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1333-9T>G |
single nucleotide variant |
not provided [RCV005155166] |
Chr1:116392845 [GRCh38]
Chr1:116935467 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1660+9A>G |
single nucleotide variant |
not provided [RCV005151657] |
Chr1:116393732 [GRCh38]
Chr1:116936354 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2069T>G (p.Phe690Cys) |
single nucleotide variant |
not provided [RCV005134540] |
Chr1:116397983 [GRCh38]
Chr1:116940605 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.13-15C>T |
single nucleotide variant |
not provided [RCV005161569] |
Chr1:116383999 [GRCh38]
Chr1:116926621 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2849+8del |
deletion |
not provided [RCV005182784] |
Chr1:116401267 [GRCh38]
Chr1:116943889 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2784G>A (p.Val928=) |
single nucleotide variant |
not provided [RCV005158906] |
Chr1:116401195 [GRCh38]
Chr1:116943817 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.984C>A (p.Ile328=) |
single nucleotide variant |
not provided [RCV005126495] |
Chr1:116389668 [GRCh38]
Chr1:116932290 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2853C>T (p.Asn951=) |
single nucleotide variant |
not provided [RCV005155672] |
Chr1:116401557 [GRCh38]
Chr1:116944179 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2763C>A (p.Ala921=) |
single nucleotide variant |
not provided [RCV005189667] |
Chr1:116401174 [GRCh38]
Chr1:116943796 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.13-7C>T |
single nucleotide variant |
not provided [RCV005135504] |
Chr1:116384007 [GRCh38]
Chr1:116926629 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1682C>T (p.Pro561Leu) |
single nucleotide variant |
not provided [RCV005197894] |
Chr1:116395131 [GRCh38]
Chr1:116937753 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2850-3T>C |
single nucleotide variant |
not provided [RCV005138888] |
Chr1:116401551 [GRCh38]
Chr1:116944173 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2849+9T>G |
single nucleotide variant |
not provided [RCV005168560] |
Chr1:116401269 [GRCh38]
Chr1:116943891 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2944C>T (p.Pro982Ser) |
single nucleotide variant |
Calf muscle atrophy [RCV005245593] |
Chr1:116401648 [GRCh38]
Chr1:116944270 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2371C>T (p.Leu791=) |
single nucleotide variant |
not provided [RCV005155885] |
Chr1:116399007 [GRCh38]
Chr1:116941629 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1223-6dup |
duplication |
not provided [RCV005168892] |
Chr1:116390774..116390775 [GRCh38]
Chr1:116933396..116933397 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.3039T>C (p.Pro1013=) |
single nucleotide variant |
not provided [RCV005203213] |
Chr1:116403971 [GRCh38]
Chr1:116946593 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.636+13_636+17del |
microsatellite |
not provided [RCV005191366] |
Chr1:116388780..116388784 [GRCh38]
Chr1:116931402..116931406 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2986C>T (p.Leu996Phe) |
single nucleotide variant |
not provided [RCV005113656] |
Chr1:116403918 [GRCh38]
Chr1:116946540 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1579G>A (p.Glu527Lys) |
single nucleotide variant |
not provided [RCV005137346] |
Chr1:116393642 [GRCh38]
Chr1:116936264 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.203C>T (p.Ala68Val) |
single nucleotide variant |
not provided [RCV005169353] |
Chr1:116387307 [GRCh38]
Chr1:116929929 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.416T>C (p.Val139Ala) |
single nucleotide variant |
not provided [RCV005116028] |
Chr1:116388159 [GRCh38]
Chr1:116930781 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.545C>T (p.Ala182Val) |
single nucleotide variant |
not provided [RCV005083176] |
Chr1:116388681 [GRCh38]
Chr1:116931303 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.29A>G (p.Tyr10Cys) |
single nucleotide variant |
not provided [RCV005167614] |
Chr1:116384030 [GRCh38]
Chr1:116926652 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.816A>G (p.Thr272=) |
single nucleotide variant |
not provided [RCV005169574] |
Chr1:116389500 [GRCh38]
Chr1:116932122 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2761G>A (p.Ala921Thr) |
single nucleotide variant |
not provided [RCV005169796] |
Chr1:116401172 [GRCh38]
Chr1:116943794 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2952-12C>T |
single nucleotide variant |
not provided [RCV005116844] |
Chr1:116403872 [GRCh38]
Chr1:116946494 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2391C>T (p.Asn797=) |
single nucleotide variant |
not provided [RCV005157470] |
Chr1:116399027 [GRCh38]
Chr1:116941649 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1643T>C (p.Leu548Pro) |
single nucleotide variant |
not provided [RCV005119913] |
Chr1:116393706 [GRCh38]
Chr1:116936328 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.3044-12T>G |
single nucleotide variant |
not provided [RCV005148831] |
Chr1:116404404 [GRCh38]
Chr1:116947026 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1024-7T>A |
single nucleotide variant |
not provided [RCV005150949] |
Chr1:116390206 [GRCh38]
Chr1:116932828 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.282G>T (p.Arg94=) |
single nucleotide variant |
not provided [RCV005134245] |
Chr1:116387386 [GRCh38]
Chr1:116930008 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.54A>G (p.Gln18=) |
single nucleotide variant |
not provided [RCV005119415] |
Chr1:116384055 [GRCh38]
Chr1:116926677 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.502-9T>C |
single nucleotide variant |
not provided [RCV005141775] |
Chr1:116388629 [GRCh38]
Chr1:116931251 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.124-5C>G |
single nucleotide variant |
not provided [RCV005205013] |
Chr1:116384778 [GRCh38]
Chr1:116927400 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1791G>A (p.Ala597=) |
single nucleotide variant |
not provided [RCV005071508] |
Chr1:116395240 [GRCh38]
Chr1:116937862 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2413G>A (p.Val805Ile) |
single nucleotide variant |
not provided [RCV005113655] |
Chr1:116399049 [GRCh38]
Chr1:116941671 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2790G>A (p.Gln930=) |
single nucleotide variant |
not provided [RCV005075122] |
Chr1:116401201 [GRCh38]
Chr1:116943823 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.579A>T (p.Val193=) |
single nucleotide variant |
not provided [RCV005166401] |
Chr1:116388715 [GRCh38]
Chr1:116931337 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1836+14G>C |
single nucleotide variant |
not provided [RCV005133308] |
Chr1:116395299 [GRCh38]
Chr1:116937921 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1660+8G>C |
single nucleotide variant |
not provided [RCV005082757] |
Chr1:116393731 [GRCh38]
Chr1:116936353 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1378A>G (p.Ile460Val) |
single nucleotide variant |
not provided [RCV005152369] |
Chr1:116392899 [GRCh38]
Chr1:116935521 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.219G>T (p.Ala73=) |
single nucleotide variant |
not provided [RCV005162446] |
Chr1:116387323 [GRCh38]
Chr1:116929945 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2628C>T (p.Asn876=) |
single nucleotide variant |
not provided [RCV005082049] |
Chr1:116400916 [GRCh38]
Chr1:116943538 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2393T>C (p.Ile798Thr) |
single nucleotide variant |
not provided [RCV005129079] |
Chr1:116399029 [GRCh38]
Chr1:116941651 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.903C>T (p.Phe301=) |
single nucleotide variant |
not provided [RCV005199726] |
Chr1:116389587 [GRCh38]
Chr1:116932209 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1011G>A (p.Leu337=) |
single nucleotide variant |
not provided [RCV005148835] |
Chr1:116389695 [GRCh38]
Chr1:116932317 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1641C>T (p.Gly547=) |
single nucleotide variant |
not provided [RCV005156110] |
Chr1:116393704 [GRCh38]
Chr1:116936326 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.1337C>T (p.Ala446Val) |
single nucleotide variant |
not provided [RCV005178998] |
Chr1:116392858 [GRCh38]
Chr1:116935480 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.259C>T (p.Pro87Ser) |
single nucleotide variant |
not provided [RCV005151823] |
Chr1:116387363 [GRCh38]
Chr1:116929985 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1485C>T (p.Asn495=) |
single nucleotide variant |
not provided [RCV005154095] |
Chr1:116393548 [GRCh38]
Chr1:116936170 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.53A>C (p.Gln18Pro) |
single nucleotide variant |
not provided [RCV005113653] |
Chr1:116384054 [GRCh38]
Chr1:116926676 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1993G>A (p.Val665Ile) |
single nucleotide variant |
not provided [RCV005113654] |
Chr1:116397907 [GRCh38]
Chr1:116940529 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2646C>T (p.His882=) |
single nucleotide variant |
not provided [RCV005071607] |
Chr1:116400934 [GRCh38]
Chr1:116943556 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.280C>T (p.Arg94Trp) |
single nucleotide variant |
not provided [RCV005151866] |
Chr1:116387384 [GRCh38]
Chr1:116930006 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.672C>T (p.Pro224=) |
single nucleotide variant |
not provided [RCV005182803] |
Chr1:116388937 [GRCh38]
Chr1:116931559 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2573-19G>A |
single nucleotide variant |
not provided [RCV005149261] |
Chr1:116400842 [GRCh38]
Chr1:116943464 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2610T>G (p.Phe870Leu) |
single nucleotide variant |
not provided [RCV005128782] |
Chr1:116400898 [GRCh38]
Chr1:116943520 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2951+1G>T |
single nucleotide variant |
not provided [RCV005205977] |
Chr1:116401656 [GRCh38]
Chr1:116944278 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2539G>C (p.Glu847Gln) |
single nucleotide variant |
not provided [RCV005125392] |
Chr1:116399510 [GRCh38]
Chr1:116942132 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1503C>T (p.Pro501=) |
single nucleotide variant |
not provided [RCV005071690] |
Chr1:116393566 [GRCh38]
Chr1:116936188 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.13-6C>T |
single nucleotide variant |
not provided [RCV005156542] |
Chr1:116384008 [GRCh38]
Chr1:116926630 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2007T>A (p.Asp669Glu) |
single nucleotide variant |
not provided [RCV005127692] |
Chr1:116397921 [GRCh38]
Chr1:116940543 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1661-16C>G |
single nucleotide variant |
not provided [RCV005115017] |
Chr1:116395094 [GRCh38]
Chr1:116937716 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.628G>A (p.Gly210Ser) |
single nucleotide variant |
not provided [RCV005123293] |
Chr1:116388764 [GRCh38]
Chr1:116931386 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.1678C>A (p.Leu560Met) |
single nucleotide variant |
not provided [RCV005181983] |
Chr1:116395127 [GRCh38]
Chr1:116937749 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.12+20G>A |
single nucleotide variant |
not provided [RCV005073101] |
Chr1:116373543 [GRCh38]
Chr1:116916165 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2896G>A (p.Ala966Thr) |
single nucleotide variant |
not provided [RCV005130462] |
Chr1:116401600 [GRCh38]
Chr1:116944222 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2436G>C (p.Leu812Phe) |
single nucleotide variant |
not provided [RCV005197893] |
Chr1:116399072 [GRCh38]
Chr1:116941694 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| NM_000701.8(ATP1A1):c.2718+9G>A |
single nucleotide variant |
not provided [RCV005161947] |
Chr1:116401015 [GRCh38]
Chr1:116943637 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.398G>C (p.Gly133Ala) |
single nucleotide variant |
not provided [RCV005118755] |
Chr1:116388141 [GRCh38]
Chr1:116930763 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
