ClinVar Miner

List of variants in gene PTCH1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 74
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1049C>T (p.Thr350Ile) rs201174718
NM_001083602.2(PTCH1):c.1126G>T (p.Val376Leu) rs759493890
NM_001083602.2(PTCH1):c.1144C>A (p.Leu382Ile) rs537871675
NM_001083602.2(PTCH1):c.1190C>G (p.Ser397Cys) rs764195249
NM_001083602.2(PTCH1):c.119T>G (p.Leu40Arg) rs1131690998
NM_001083602.2(PTCH1):c.124A>G (p.Ile42Val) rs1338490449
NM_001083602.2(PTCH1):c.1321G>A (p.Ala441Thr) rs745669155
NM_001083602.2(PTCH1):c.1328G>A (p.Gly443Asp) rs1060502268
NM_001083602.2(PTCH1):c.133G>A (p.Ala45Thr) rs777897973
NM_001083602.2(PTCH1):c.1466A>G (p.Asn489Ser) rs181192122
NM_001083602.2(PTCH1):c.190G>A (p.Val64Met) rs746339472
NM_001083602.2(PTCH1):c.19C>T (p.Arg7Trp) rs751511116
NM_001083602.2(PTCH1):c.214C>T (p.Arg72Cys) rs139535966
NM_001083602.2(PTCH1):c.221T>C (p.Leu74Ser) rs1554702197
NM_001083602.2(PTCH1):c.2436C>A (p.Asp812Glu) rs771732591
NM_001083602.2(PTCH1):c.2437G>A (p.Asp813Asn) rs750373573
NM_001083602.2(PTCH1):c.2456A>T (p.Lys819Ile) rs1272128871
NM_001083602.2(PTCH1):c.2473G>A (p.Gly825Ser) rs570091335
NM_001083602.2(PTCH1):c.2482G>A (p.Asp828Asn) rs56173896
NM_001083602.2(PTCH1):c.2494G>A (p.Asp832Asn) rs531947455
NM_001083602.2(PTCH1):c.2581G>A (p.Val861Ile) rs1554691693
NM_001083602.2(PTCH1):c.2599G>A (p.Ala867Thr) rs373120584
NM_001083602.2(PTCH1):c.2605G>C (p.Ala869Pro) rs1554691676
NM_001083602.2(PTCH1):c.2668A>G (p.Met890Val) rs587780699
NM_001083602.2(PTCH1):c.2932G>A (p.Ala978Thr) rs138458710
NM_001083602.2(PTCH1):c.302C>A (p.Ala101Asp) rs587780707
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3106T>G (p.Leu1036Val) rs1554690984
NM_001083602.2(PTCH1):c.3109-4A>C rs1554690494
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.3199A>G (p.Thr1067Ala) rs1131690996
NM_001083602.2(PTCH1):c.3212_3226del (p.Val1071_Ala1075del) rs1554690414
NM_001083602.2(PTCH1):c.3224C>T (p.Ala1075Val) rs376844749
NM_001083602.2(PTCH1):c.3244A>G (p.Ile1082Val) rs369265532
NM_001083602.2(PTCH1):c.3377G>A (p.Arg1126His) rs762040036
NM_001083602.2(PTCH1):c.3418C>T (p.Arg1140Cys) rs772537644
NM_001083602.2(PTCH1):c.3419G>A (p.Arg1140His) rs560967532
NM_001083602.2(PTCH1):c.3431C>T (p.Pro1144Leu) rs781062564
NM_001083602.2(PTCH1):c.3433C>T (p.Pro1145Ser) rs139495263
NM_001083602.2(PTCH1):c.3518G>A (p.Arg1173Gln) rs758728491
NM_001083602.2(PTCH1):c.3556C>G (p.His1186Asp) rs780990429
NM_001083602.2(PTCH1):c.3580G>T (p.Glu1194Ter) rs1131690988
NM_001083602.2(PTCH1):c.3595G>A (p.Ala1199Thr) rs759791227
NM_001083602.2(PTCH1):c.3638C>T (p.Pro1213Leu) rs747128318
NM_001083602.2(PTCH1):c.3721C>T (p.Pro1241Ser) rs574880967
NM_001083602.2(PTCH1):c.3746C>G (p.Pro1249Arg) rs357564
NM_001083602.2(PTCH1):c.3758G>A (p.Arg1253His) rs572658914
NM_001083602.2(PTCH1):c.3794C>G (p.Ser1265Cys) rs150373546
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3853A>G (p.Asn1285Asp) rs786204103
NM_001083602.2(PTCH1):c.3871A>G (p.Met1291Val) rs757909121
NM_001083602.2(PTCH1):c.3943G>A (p.Val1315Met) rs187104739
NM_001083602.2(PTCH1):c.3973C>T (p.Arg1325Trp) rs45535032
NM_001083602.2(PTCH1):c.3983G>A (p.Arg1328Gln) rs748812637
NM_001083602.2(PTCH1):c.4-1650G>C rs143494325
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1672G>A rs768512190
NM_001083602.2(PTCH1):c.4-1683C>T rs762960154
NM_001083602.2(PTCH1):c.4-1689G>C rs774712511
NM_001083602.2(PTCH1):c.4-1708_4-1703del rs1554709544
NM_001083602.2(PTCH1):c.4-1726C>G rs779791579
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4042G>A (p.Val1348Met) rs149667902
NM_001083602.2(PTCH1):c.4054G>A (p.Val1352Ile) rs369882883
NM_001083602.2(PTCH1):c.4076C>T (p.Ser1359Leu) rs587778630
NM_001083602.2(PTCH1):c.415A>C (p.Lys139Gln) rs1554700724
NM_001083602.2(PTCH1):c.456+3A>G rs1131690966
NM_001083602.2(PTCH1):c.55A>G (p.Arg19Gly) rs1554708772
NM_001083602.2(PTCH1):c.56G>A (p.Arg19Lys) rs151310492
NM_001083602.2(PTCH1):c.580G>A (p.Asp194Asn) rs765174527
NM_001083602.2(PTCH1):c.686C>T (p.Pro229Leu) rs370755364
NM_001083602.2(PTCH1):c.860A>G (p.Lys287Arg) rs757579309
NM_001083602.2(PTCH1):c.954C>A (p.His318Gln) rs200246772
NM_001083602.2(PTCH1):c.985A>G (p.Ile329Val) rs139498131

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