ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance for X-linked distal hereditary motor neuropathy

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=) rs781846400
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe) rs1331470313
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile) rs781952393
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn) rs371777895
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
NM_000052.7(ATP7A):c.1945_1946+2dup
NM_000052.7(ATP7A):c.1947-5A>G rs1557234466
NM_000052.7(ATP7A):c.2019_2021dup (p.Met674_Asp675insIle) rs1569549885
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn) rs782629836
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile) rs782455461
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile) rs782290331
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile) rs782268170
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr) rs1427317043
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr) rs146119866
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly) rs1363235909
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys) rs782664232
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg) rs1557238254
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg) rs375788705
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe) rs782364202
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr) rs781838499
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile) rs1557231734
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val) rs782237314
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378

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