ClinVar Miner

List of variants reported as uncertain significance for X-linked distal hereditary motor neuropathy by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu) rs201999500
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1947-5A>G
NM_000052.7(ATP7A):c.2019_2021dup (p.Met674_Asp675insIle) rs1569549885
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
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.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2498+3A>T
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
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)
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
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)
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
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)
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala) rs138154934
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.368G>A (p.Arg123Lys)
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val)
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.4062G>C (p.Arg1354Ser)
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys) rs1280037924
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile) rs782682493
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
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)
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.