ClinVar Miner

List of variants studied for X-linked distal hereditary motor neuropathy

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 89
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HGVS dbSNP
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77271231)_(77271398_?)del
NM_000052.6(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.6(ATP7A):c.1156A>G (p.Met386Val) rs369419911
NM_000052.6(ATP7A):c.1159A>C (p.Thr387Pro)
NM_000052.6(ATP7A):c.1270C>T (p.Leu424=) rs139000596
NM_000052.6(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.6(ATP7A):c.1537G>T (p.Glu513Ter)
NM_000052.6(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.6(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.6(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.6(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278
NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.6(ATP7A):c.1934G>A (p.Arg645Gln) rs782729433
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.6(ATP7A):c.2172+7G>T rs782433802
NM_000052.6(ATP7A):c.219T>C (p.Ala73=) rs1557231581
NM_000052.6(ATP7A):c.2208T>C (p.Tyr736=) rs1557234725
NM_000052.6(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.6(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.6(ATP7A):c.2467delG (p.Val823Terfs)
NM_000052.6(ATP7A):c.2490C>T (p.Ile830=) rs368261204
NM_000052.6(ATP7A):c.2499-9T>C rs1557235070
NM_000052.6(ATP7A):c.2519A>T (p.Glu840Val) rs372318616
NM_000052.6(ATP7A):c.2531G>A (p.Arg844His) rs367775730
NM_000052.6(ATP7A):c.2532T>G (p.Arg844=) rs782315761
NM_000052.6(ATP7A):c.2556A>T (p.Pro852=) rs781950120
NM_000052.6(ATP7A):c.2581C>T (p.Arg861Cys) rs781892236
NM_000052.6(ATP7A):c.2709C>T (p.Cys903=) rs140838569
NM_000052.6(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.6(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.6(ATP7A):c.2815G>A (p.Gly939Ser)
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.6(ATP7A):c.2948C>T (p.Thr983Met) rs782094358
NM_000052.6(ATP7A):c.2972C>A (p.Ala991Asp) rs1557236729
NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.6(ATP7A):c.3028_3030delACTinsGTG (p.Thr1010Val) rs1557236745
NM_000052.6(ATP7A):c.3037_3038delATinsGA (p.Met1013Glu) rs1557236747
NM_000052.6(ATP7A):c.3094T>C (p.Leu1032=) rs369055537
NM_000052.6(ATP7A):c.3153C>T (p.His1051=) rs142998552
NM_000052.6(ATP7A):c.3168G>T (p.Val1056=) rs371089220
NM_000052.6(ATP7A):c.317C>T (p.Thr106Ile)
NM_000052.6(ATP7A):c.327G>A (p.Lys109=) rs61747968
NM_000052.6(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.6(ATP7A):c.3374A>G (p.Asn1125Ser) rs782764064
NM_000052.6(ATP7A):c.3457A>G (p.Ser1153Gly)
NM_000052.6(ATP7A):c.3473C>A (p.Ser1158Ter) rs1557237451
NM_000052.6(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
NM_000052.6(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.6(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.6(ATP7A):c.360T>A (p.Pro120=) rs1557231616
NM_000052.6(ATP7A):c.3613G>C (p.Glu1205Gln) rs782349186
NM_000052.6(ATP7A):c.3621G>A (p.Glu1207=) rs141535376
NM_000052.6(ATP7A):c.3790A>G (p.Ile1264Val)
NM_000052.6(ATP7A):c.3801+6T>C rs181665434
NM_000052.6(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.6(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000
NM_000052.6(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.6(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.6(ATP7A):c.4006-1G>A rs1557238665
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130
NM_000052.6(ATP7A):c.4226+9G>A rs1557239012
NM_000052.6(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.6(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.6(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000052.6(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938
NM_000052.6(ATP7A):c.4422A>G (p.Leu1474=) rs1557239138
NM_000052.6(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.6(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.6(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.6(ATP7A):c.491G>A (p.Ser164Asn) rs144655617
NM_000052.6(ATP7A):c.502G>A (p.Ala168Thr)
NM_000052.6(ATP7A):c.565A>G (p.Ile189Val) rs2228447
NM_000052.6(ATP7A):c.610+8G>A rs144616937
NM_000052.6(ATP7A):c.844A>G (p.Ile282Val)
NM_000052.6(ATP7A):c.864T>C (p.Cys288=) rs142521666
NM_000052.6(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992
NM_000052.6(ATP7A):c.903A>C (p.Ala301=) rs1557231803
NM_000052.6(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000052.6(ATP7A):c.92G>A (p.Gly31Glu)
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile) rs267606673
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser) rs267606672

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