| 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.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.1798C>G (p.Pro600Ala) |
single nucleotide variant |
Charcot-Marie-Tooth disease type 2A2 [RCV003311871]|Charcot-marie-tooth disease, axonal, type 2DD [RCV000656713] |
Chr1:116395247 [GRCh38]
Chr1:116937869 [GRCh37]
Chr1:1p13.1 |
pathogenic|uncertain significance |
| 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 |
| 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.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.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.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 |
| 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.2199T>C (p.Ala733=) |
single nucleotide variant |
not provided [RCV002084519] |
Chr1:116398695 [GRCh38]
Chr1:116941317 [GRCh37]
Chr1:1p13.1 |
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.3057G>A (p.Lys1019=) |
single nucleotide variant |
ATP1A1-related condition [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 |
| 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.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 condition [RCV003916147]|not provided [RCV000964161] |
Chr1:116399512 [GRCh38]
Chr1:116942134 [GRCh37]
Chr1:1p13.1 |
benign|likely benign |
| 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.2791T>C (p.Trp931Arg) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV000845571] |
Chr1:116401202 [GRCh38]
Chr1:116943824 [GRCh37]
Chr1:1p13.1 |
pathogenic |
| NM_000701.8(ATP1A1):c.2542C>T (p.Arg848Trp) |
single nucleotide variant |
Hypomagnesemia, seizures, and intellectual disability 2 [RCV001198395] |
Chr1:116399513 [GRCh38]
Chr1:116942135 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| 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.1974-129G>A |
single nucleotide variant |
not provided [RCV001685780] |
Chr1:116397759 [GRCh38]
Chr1:116940381 [GRCh37]
Chr1:1p13.1 |
benign |
| 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.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.1836+178G>A |
single nucleotide variant |
not provided [RCV001696043] |
Chr1:116395463 [GRCh38]
Chr1:116938085 [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.1973+216A>C |
single nucleotide variant |
not provided [RCV001684682] |
Chr1:116396950 [GRCh38]
Chr1:116939572 [GRCh37]
Chr1:1p13.1 |
benign |
| 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.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.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.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.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.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.2125-139C>T |
single nucleotide variant |
not provided [RCV001616674] |
Chr1:116398482 [GRCh38]
Chr1:116941104 [GRCh37]
Chr1:1p13.1 |
benign |
| NM_000701.8(ATP1A1):c.1691A>G (p.Gln564Arg) |
single nucleotide variant |
not provided [RCV003108801] |
Chr1:116395140 [GRCh38]
Chr1:116937762 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg) |
single nucleotide variant |
ATP1A1-related condition [RCV003976156]|not provided [RCV001774150] |
Chr1:116400995 [GRCh38]
Chr1:116943617 [GRCh37]
Chr1:1p13.1 |
likely pathogenic|conflicting interpretations of pathogenicity|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.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.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.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.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.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.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.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.2873del (p.Leu958fs) |
deletion |
not provided [RCV001914480] |
Chr1:116401577 [GRCh38]
Chr1:116944199 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| 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.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.2657T>A (p.Leu886His) |
single nucleotide variant |
not provided [RCV002005847] |
Chr1:116400945 [GRCh38]
Chr1:116943567 [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.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.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.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.1578G>A (p.Lys526=) |
single nucleotide variant |
ATP1A1-related condition [RCV003968655]|not provided [RCV001989987] |
Chr1:116393641 [GRCh38]
Chr1:116936263 [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.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.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.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.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.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.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.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.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.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.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] |
Chr1:116403868 [GRCh38]
Chr1:116946490 [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.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.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.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.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.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.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.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.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.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.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.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.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.1920C>T (p.Thr640=) |
single nucleotide variant |
ATP1A1-related condition [RCV003978524]|not provided [RCV002165177] |
Chr1:116396681 [GRCh38]
Chr1:116939303 [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.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.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.1509C>T (p.His503=) |
single nucleotide variant |
not provided [RCV002152615] |
Chr1:116393572 [GRCh38]
Chr1:116936194 [GRCh37]
Chr1:1p13.1 |
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.3006C>T (p.Asp1002=) |
single nucleotide variant |
not provided [RCV002184408] |
Chr1:116403938 [GRCh38]
Chr1:116946560 [GRCh37]
Chr1:1p13.1 |
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 condition [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.2325C>T (p.Ser775=) |
single nucleotide variant |
ATP1A1-related condition [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.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.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.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.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 condition [RCV003951225]|not provided [RCV002135610] |
Chr1:116392943 [GRCh38]
Chr1:116935565 [GRCh37]
Chr1:1p13.1 |
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.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 condition [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 condition [RCV003950937]|not provided [RCV002202827] |
Chr1:116401240 [GRCh38]
Chr1:116943862 [GRCh37]
Chr1:1p13.1 |
likely benign |
| NM_000701.8(ATP1A1):c.2739C>T (p.Ile913=) |
single nucleotide variant |
ATP1A1-related condition [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.3044-11del |
deletion |
not provided [RCV002686399] |
Chr1:116404405 [GRCh38]
Chr1:116947027 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.1496C>T (p.Ser499Leu) |
single nucleotide variant |
not provided [RCV002593323] |
Chr1:116393559 [GRCh38]
Chr1:116936181 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.1660+12del |
deletion |
not provided [RCV002710742] |
Chr1:116393734 [GRCh38]
Chr1:116936356 [GRCh37]
Chr1:1p13.1 |
likely benign |
| 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.1394G>A (p.Gly465Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003216134] |
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.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.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.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.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.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.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.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.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.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.2926G>T (p.Val976Phe) |
single nucleotide variant |
ATP1A1-related condition [RCV003404541] |
Chr1:116401630 [GRCh38]
Chr1:116944252 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.1556G>A (p.Ser519Asn) |
single nucleotide variant |
ATP1A1-related condition [RCV003909063]|not provided [RCV003666740] |
Chr1:116393619 [GRCh38]
Chr1:116936241 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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 |
not provided [RCV003846529] |
Chr1:116393601 [GRCh38]
Chr1:116936223 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
| 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.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.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.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.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.3044G>T (p.Gly1015Val) |
single nucleotide variant |
ATP1A1-related condition [RCV003894486] |
Chr1:116404416 [GRCh38]
Chr1:116947038 [GRCh37]
Chr1:1p13.1 |
uncertain significance |
