ClinVar Miner

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

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg) rs137852959 0.00024
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) rs761156912 0.00004
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile) rs752078407 0.00004
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter) rs1250997630 0.00003
NM_001386393.1(PANK2):c.1112_1114del (p.Arg371_Glu372delinsGln) rs766251466 0.00003
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met) rs137852967 0.00002
NM_001386393.1(PANK2):c.739C>T (p.Arg247Trp) rs753376100 0.00002
NM_001386393.1(PANK2):c.846_847del (p.Gly283_Val284insTer) rs778550409 0.00002
NM_000146.4(FTL):c.-168G>A rs398124635 0.00001
NM_001386393.1(PANK2):c.1083-1G>T rs148987163 0.00001
NM_001386393.1(PANK2):c.1111C>T (p.Arg371Ter) rs137852968 0.00001
NM_001386393.1(PANK2):c.243del (p.Ser81fs) rs916725028 0.00001
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys) rs1555787646 0.00001
NM_001386393.1(PANK2):c.353T>C (p.Phe118Ser) rs1360807330 0.00001
NM_001386393.1(PANK2):c.440_441insCT (p.Tyr148fs) rs1375490128 0.00001
NM_001386393.1(PANK2):c.460C>T (p.Arg154Trp) rs137852961 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001386393.1(PANK2):c.526C>T (p.Arg176Cys) rs137852962 0.00001
NM_001386393.1(PANK2):c.905+1G>C rs1135401789 0.00001
NM_001386393.1(PANK2):c.987del (p.Arg330fs) rs544616523 0.00001
NC_000020.10:g.(?_3869748)_(3891497_?)del
NC_000020.10:g.(?_3888553)_(3888945_?)del
NC_000020.10:g.(?_3891204)_(3893301_?)del
NC_000020.11:g.(?_3889081)_(3912654_?)del
NM_000146.4(FTL):c.-150C>A rs2038438612
NM_000146.4(FTL):c.-151A>G
NM_000146.4(FTL):c.-157G>A rs1600120873
NM_000146.4(FTL):c.-160A>G rs398124633
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000146.4(FTL):c.-164C>A rs398124637
NM_000146.4(FTL):c.-167C>T rs2038438402
NM_000146.4(FTL):c.-168G>C rs398124635
NM_000146.4(FTL):c.-168G>T rs398124635
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)
NM_000146.4(FTL):c.460dup (p.Arg154fs) rs2122436083
NM_001386393.1(PANK2):c.104C>A (p.Ser35Ter)
NM_001386393.1(PANK2):c.1061C>G (p.Pro354Arg)
NM_001386393.1(PANK2):c.1083-1G>A
NM_001386393.1(PANK2):c.1086del (p.Phe362fs) rs2146887806
NM_001386393.1(PANK2):c.1090_1096del (p.Gly363_Asn364insTer)
NM_001386393.1(PANK2):c.1094T>C (p.Met365Thr)
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.1145C>T (p.Ala382Val)
NM_001386393.1(PANK2):c.115G>T (p.Glu39Ter) rs528889529
NM_001386393.1(PANK2):c.1172T>A (p.Ile391Asn)
NM_001386393.1(PANK2):c.1172T>C (p.Ile391Thr)
NM_001386393.1(PANK2):c.118C>T (p.Gln40Ter)
NM_001386393.1(PANK2):c.1207-3C>G rs370766524
NM_001386393.1(PANK2):c.1261_1262del (p.Met421fs)
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys) rs1193865095
NM_001386393.1(PANK2):c.1352_1371del (p.Gly451fs) rs2090674600
NM_001386393.1(PANK2):c.1358T>A (p.Leu453His)
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs) rs755653150
NM_001386393.1(PANK2):c.185_197del (p.Val62fs)
NM_001386393.1(PANK2):c.189_201del (p.Ala64fs)
NM_001386393.1(PANK2):c.225del (p.Arg76fs)
NM_001386393.1(PANK2):c.240C>G (p.Tyr80Ter) rs137852960
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer) rs1600477446
NM_001386393.1(PANK2):c.262del (p.Arg88fs)
NM_001386393.1(PANK2):c.308G>A (p.Trp103Ter)
NM_001386393.1(PANK2):c.317dup (p.Asp107fs) rs2146859220
NM_001386393.1(PANK2):c.371_380del (p.Thr124fs)
NM_001386393.1(PANK2):c.493_494del (p.Leu165fs) rs750440690
NM_001386393.1(PANK2):c.498_499del (p.Cys166fs)
NM_001386393.1(PANK2):c.521_525dup (p.Arg176fs) rs1600534514
NM_001386393.1(PANK2):c.579del (p.Phe194fs) rs1568569941
NM_001386393.1(PANK2):c.604dup (p.Cys202fs)
NM_001386393.1(PANK2):c.635A>G (p.Glu212Gly)
NM_001386393.1(PANK2):c.636G>T (p.Glu212Asp)
NM_001386393.1(PANK2):c.652-1G>C rs2146866687
NM_001386393.1(PANK2):c.664C>T (p.Gln222Ter) rs777414421
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001386393.1(PANK2):c.767del (p.Pro256fs) rs753400880
NM_001386393.1(PANK2):c.806del (p.Asp268_Leu269insTer)
NM_001386393.1(PANK2):c.832dup (p.Val278fs) rs2090456897
NM_001386393.1(PANK2):c.885C>G (p.Tyr295Ter)
NM_001386393.1(PANK2):c.906-2A>C rs1261714833
NM_001386393.1(PANK2):c.906-99_929del rs2146872050
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs) rs1555788619
NM_001386393.1(PANK2):c.927del (p.Phe309fs) rs1568574931
NM_001386393.1(PANK2):c.940CTT[1] (p.Leu315del) rs1064794317
NM_001386393.1(PANK2):c.944T>C (p.Leu315Pro) rs2146872522
NM_001386393.1(PANK2):c.949_961del (p.Gly317fs)

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