ClinVar Miner

List of variants reported as uncertain significance for Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy by Invitae

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Total variants: 115
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HGVS dbSNP
NM_001161352.2(KCNMA1):c.1132G>A (p.Ala378Thr)
NM_001161352.2(KCNMA1):c.117CTC[10] (p.Ser58_Ser60dup)
NM_001161352.2(KCNMA1):c.117CTC[9] (p.Ser59_Ser60dup)
NM_001161352.2(KCNMA1):c.1181G>A (p.Arg394His) rs1397483743
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe)
NM_001161352.2(KCNMA1):c.1306G>A (p.Val436Ile)
NM_001161352.2(KCNMA1):c.1321G>A (p.Val441Ile)
NM_001161352.2(KCNMA1):c.13GGC[8] (p.Gly9_Gly10dup)
NM_001161352.2(KCNMA1):c.13_15GGC[2] (p.Gly7_Gly10del)
NM_001161352.2(KCNMA1):c.13_15GGC[5] (p.Gly10del) rs750804948
NM_001161352.2(KCNMA1):c.13_15GGC[7] (p.Gly10dup) rs750804948
NM_001161352.2(KCNMA1):c.144_146TTC[1] (p.Ser58_Ser60del)
NM_001161352.2(KCNMA1):c.144_146TTC[2] (p.Ser59_Ser60del)
NM_001161352.2(KCNMA1):c.1491C>G (p.Asp497Glu)
NM_001161352.2(KCNMA1):c.1494G>A (p.Pro498=) rs760119167
NM_001161352.2(KCNMA1):c.1500G>A (p.Ala500=) rs201400928
NM_001161352.2(KCNMA1):c.1554G>T (p.Lys518Asn) rs201996416
NM_001161352.2(KCNMA1):c.1593+10C>T rs200770082
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1622A>G (p.Asn541Ser) rs1447211434
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) rs754606765
NM_001161352.2(KCNMA1):c.1632A>C (p.Glu544Asp) rs143385319
NM_001161352.2(KCNMA1):c.168_179del (p.Ser57_Ser60del)
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser) rs914048941
NM_001161352.2(KCNMA1):c.16_33del (p.Gly6_Ser11del)
NM_001161352.2(KCNMA1):c.1701C>T (p.Gly567=) rs746337315
NM_001161352.2(KCNMA1):c.173C>T (p.Ser58Leu)
NM_001161352.2(KCNMA1):c.1749+6G>A rs373648078
NM_001161352.2(KCNMA1):c.179C>G (p.Ser60Trp) rs768769748
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_001161352.2(KCNMA1):c.1831G>A (p.Val611Met) rs200668674
NM_001161352.2(KCNMA1):c.1847C>G (p.Pro616Arg)
NM_001161352.2(KCNMA1):c.187G>C (p.Glu63Gln) rs749265202
NM_001161352.2(KCNMA1):c.1936A>G (p.Ile646Val)
NM_001161352.2(KCNMA1):c.1952A>C (p.His651Pro) rs200013065
NM_001161352.2(KCNMA1):c.1964A>T (p.Gln655Leu)
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408
NM_001161352.2(KCNMA1):c.2078G>A (p.Cys693Tyr)
NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser) rs886043569
NM_001161352.2(KCNMA1):c.215C>G (p.Pro72Arg)
NM_001161352.2(KCNMA1):c.2291T>C (p.Leu764Pro) rs781228418
NM_001161352.2(KCNMA1):c.2327G>A (p.Arg776Gln)
NM_001161352.2(KCNMA1):c.2342C>A (p.Thr781Asn)
NM_001161352.2(KCNMA1):c.2345C>T (p.Ser782Leu)
NM_001161352.2(KCNMA1):c.2350A>G (p.Lys784Glu) rs751919609
NM_001161352.2(KCNMA1):c.2405T>C (p.Met802Thr)
NM_001161352.2(KCNMA1):c.2414A>G (p.Asn805Ser)
NM_001161352.2(KCNMA1):c.2503A>G (p.Met835Val)
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843
NM_001161352.2(KCNMA1):c.2681A>G (p.His894Arg)
NM_001161352.2(KCNMA1):c.2710G>A (p.Gly904Ser)
NM_001161352.2(KCNMA1):c.2714C>G (p.Thr905Arg)
NM_001161352.2(KCNMA1):c.27_56del (p.Gly13_Ser22del)
NM_001161352.2(KCNMA1):c.2956G>C (p.Gly986Arg)
NM_001161352.2(KCNMA1):c.298_309del (p.Gly100_Phe103del)
NM_001161352.2(KCNMA1):c.3016+6G>A
NM_001161352.2(KCNMA1):c.30C>T (p.Gly10=)
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del) rs1163075445
NM_001161352.2(KCNMA1):c.3129G>A (p.Leu1043=)
NM_001161352.2(KCNMA1):c.3147+6T>C
NM_001161352.2(KCNMA1):c.3147G>A (p.Ala1049=) rs201397661
NM_001161352.2(KCNMA1):c.3182G>A (p.Arg1061Gln) rs764468883
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270
NM_001161352.2(KCNMA1):c.31_33AGC[3] (p.Ser12dup) rs757636988
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_48del (p.Ser11_Gly16del) rs759136661
NM_001161352.2(KCNMA1):c.31_48dup (p.Ser11_Gly16dup) rs759136661
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del) rs587780364
NM_001161352.2(KCNMA1):c.3263C>T (p.Thr1088Ile)
NM_001161352.2(KCNMA1):c.327G>T (p.Arg109=)
NM_001161352.2(KCNMA1):c.3281A>G (p.Asn1094Ser)
NM_001161352.2(KCNMA1):c.3319G>A (p.Asp1107Asn)
NM_001161352.2(KCNMA1):c.340C>A (p.Leu114Met) rs780623276
NM_001161352.2(KCNMA1):c.3416G>A (p.Arg1139Gln) rs1397556923
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
NM_001161352.2(KCNMA1):c.3507G>A (p.Thr1169=) rs201721843
NM_001161352.2(KCNMA1):c.3547G>C (p.Gly1183Arg)
NM_001161352.2(KCNMA1):c.3556C>T (p.Arg1186Trp) rs747029218
NM_001161352.2(KCNMA1):c.3557G>A (p.Arg1186Gln) rs200141207
NM_001161352.2(KCNMA1):c.3578C>T (p.Ser1193Phe)
NM_001161352.2(KCNMA1):c.3581A>G (p.His1194Arg) rs1589551484
NM_001161352.2(KCNMA1):c.3584C>T (p.Ser1195Leu)
NM_001161352.2(KCNMA1):c.3635C>T (p.Thr1212Ile) rs200773083
NM_001161352.2(KCNMA1):c.3641A>G (p.Asn1214Ser)
NM_001161352.2(KCNMA1):c.3643C>T (p.Arg1215Ter)
NM_001161352.2(KCNMA1):c.3652C>T (p.Arg1218Trp)
NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln) rs200723995
NM_001161352.2(KCNMA1):c.3673C>T (p.Arg1225Trp)
NM_001161352.2(KCNMA1):c.3674G>A (p.Arg1225Gln)
NM_001161352.2(KCNMA1):c.36_38CGG[10] (p.Gly18_Gly20dup)
NM_001161352.2(KCNMA1):c.36_38CGG[4] (p.Gly18_Gly20del) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_38CGG[9] (p.Gly19_Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.36_65del (p.Gly13_Ser22del)
NM_001161352.2(KCNMA1):c.378+7C>T
NM_001161352.2(KCNMA1):c.422C>T (p.Thr141Ile)
NM_001161352.2(KCNMA1):c.454G>A (p.Val152Met)
NM_001161352.2(KCNMA1):c.460G>A (p.Ala154Thr) rs142858967
NM_001161352.2(KCNMA1):c.460G>T (p.Ala154Ser) rs142858967
NM_001161352.2(KCNMA1):c.469G>C (p.Gly157Arg) rs767576877
NM_001161352.2(KCNMA1):c.55_60dup (p.Gly19_Gly20dup)
NM_001161352.2(KCNMA1):c.626T>C (p.Phe209Ser) rs1598200324
NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) rs794726902
NM_001161352.2(KCNMA1):c.632A>G (p.Lys211Arg)
NM_001161352.2(KCNMA1):c.659C>T (p.Ala220Val)
NM_001161352.2(KCNMA1):c.667G>A (p.Val223Met) rs779829350
NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys)
NM_001161352.2(KCNMA1):c.802T>C (p.Trp268Arg)
NM_001161352.2(KCNMA1):c.809G>A (p.Gly270Asp) rs1554841751
NM_001161352.2(KCNMA1):c.813G>C (p.Leu271Phe)
NM_001161352.2(KCNMA1):c.85A>G (p.Ile29Val) rs369845234
NM_001161352.2(KCNMA1):c.91G>T (p.Ala31Ser)
NM_001161352.2(KCNMA1):c.92C>G (p.Ala31Gly) rs201551432

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