ClinVar Miner

List of variants reported as likely pathogenic for Huntington disease-like syndrome

Included ClinVar conditions (16):
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Minimum conflict level:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_033305.3(VPS13A):c.3961-2A>C rs1244139989 0.00004
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs) rs951347128 0.00003
NM_033305.3(VPS13A):c.7953+1G>A rs372141290 0.00002
NM_000447.3(PSEN2):c.448G>A (p.Val150Met) rs866044092 0.00001
NM_001386393.1(PANK2):c.1025A>G (p.Asp342Gly) rs763496520 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386393.1(PANK2):c.734A>G (p.Asn245Ser) rs746484727 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_033305.3(VPS13A):c.8325+1G>A rs1459022689 0.00001
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000146.4(FTL):c.-166T>C rs2122429764
NM_000146.4(FTL):c.485_489dup (p.Glu164fs) rs2122436225
NM_001386393.1(PANK2):c.*40G>C rs1131692166
NM_001386393.1(PANK2):c.-21G>T rs780551883
NM_001386393.1(PANK2):c.1009G>T (p.Asp337Tyr)
NM_001386393.1(PANK2):c.1024G>T (p.Asp342Tyr) rs1568575271
NM_001386393.1(PANK2):c.1025A>C (p.Asp342Ala)
NM_001386393.1(PANK2):c.1025A>T (p.Asp342Val)
NM_001386393.1(PANK2):c.1082+1G>C rs1600548506
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn) rs137852963
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.1139C>T (p.Ala380Val)
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser) rs111863748
NM_001386393.1(PANK2):c.1184C>A (p.Ala395Glu)
NM_001386393.1(PANK2):c.1189del (p.Met397fs)
NM_001386393.1(PANK2):c.1196C>T (p.Ala399Val)
NM_001386393.1(PANK2):c.1264C>T (p.Arg422Trp)
NM_001386393.1(PANK2):c.1330G>A (p.Glu444Lys)
NM_001386393.1(PANK2):c.1336T>C (p.Tyr446His) rs2090674561
NM_001386393.1(PANK2):c.1357C>T (p.Leu453Phe)
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001386393.1(PANK2):c.299-1G>A
NM_001386393.1(PANK2):c.325G>A (p.Gly109Ser)
NM_001386393.1(PANK2):c.445G>A (p.Gly149Arg)
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.652-2A>G
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.766C>A (p.Pro256Thr) rs777624606
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3]) rs2138219961
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) rs2131030007
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) rs2131029946
NM_033305.3(VPS13A):c.2203dup (p.Val735fs)
NM_033305.3(VPS13A):c.2252_2253insGA (p.Lys752fs) rs1825188183
NM_033305.3(VPS13A):c.2500del (p.Val834fs) rs2131325474
NM_033305.3(VPS13A):c.2513-2A>T rs1037030970
NM_033305.3(VPS13A):c.3114del (p.Lys1038fs)
NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs)
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) rs2131427489
NM_033305.3(VPS13A):c.4356del (p.Ser1452_Leu1453insTer)
NM_033305.3(VPS13A):c.4715del (p.Asn1572fs) rs2131432786
NM_033305.3(VPS13A):c.5574+1G>A rs1829731758
NM_033305.3(VPS13A):c.6379-1G>C
NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) rs1830740171
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) rs756865623
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8668-1G>A rs2131587158
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
Single allele

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