ClinVar Miner

List of variants in gene PTCH1 reported by Ambry Genetics

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Gene type:
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Total variants: 222
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HGVS dbSNP
NM_000264.4(PTCH1):c.3450del (p.Arg1150Serfs) rs1131691001
NM_001083602.2(PTCH1):c.1049C>T (p.Thr350Ile) rs201174718
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.1110C>A (p.Asp370Glu) rs148471237
NM_001083602.2(PTCH1):c.1110C>T (p.Asp370=) rs148471237
NM_001083602.2(PTCH1):c.1126G>T (p.Val376Leu) rs759493890
NM_001083602.2(PTCH1):c.1134C>T (p.Ser378=) rs373930674
NM_001083602.2(PTCH1):c.1136del (p.Gly379fs) rs1131690978
NM_001083602.2(PTCH1):c.1144C>A (p.Leu382Ile) rs537871675
NM_001083602.2(PTCH1):c.1152C>G (p.Leu384=) rs369109033
NM_001083602.2(PTCH1):c.1181G>A (p.Trp394Ter) rs1131690974
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.1206C>T (p.Ala402=) rs201246004
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.124A>G (p.Ile42Val) rs1338490449
NM_001083602.2(PTCH1):c.1264T>C (p.Cys422Arg) rs1131690999
NM_001083602.2(PTCH1):c.126A>G (p.Ile42Met) rs144182921
NM_001083602.2(PTCH1):c.1306-2A>C rs1131690984
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.1381C>T (p.Gln461Ter) rs1554698260
NM_001083602.2(PTCH1):c.1405-2A>C rs1064793921
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1463G>A (p.Ser488Asn) rs148367880
NM_001083602.2(PTCH1):c.1466A>G (p.Asn489Ser) rs181192122
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.173_189del (p.Asn58fs) rs1554708626
NM_001083602.2(PTCH1):c.190G>A (p.Val64Met) rs746339472
NM_001083602.2(PTCH1):c.196+1G>A rs1131690995
NM_001083602.2(PTCH1):c.19C>T (p.Arg7Trp) rs751511116
NM_001083602.2(PTCH1):c.205C>T (p.Arg69Ter) rs1131690986
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.2364A>G (p.Gly788=) rs751613059
NM_001083602.2(PTCH1):c.2400del (p.Ile802fs) rs1131690975
NM_001083602.2(PTCH1):c.2427T>C (p.Asn809=) rs1389183150
NM_001083602.2(PTCH1):c.2436C>A (p.Asp812Glu) rs771732591
NM_001083602.2(PTCH1):c.2436C>T (p.Asp812=) 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.2480G>A (p.Arg827His) rs138154222
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.2564_2567dup (p.Thr858fs) rs1131690972
NM_001083602.2(PTCH1):c.2574G>T (p.Thr858=) rs1554691694
NM_001083602.2(PTCH1):c.2581G>A (p.Val861Ile) rs1554691693
NM_001083602.2(PTCH1):c.2589C>T (p.Asn863=) rs145196322
NM_001083602.2(PTCH1):c.2596del (p.Val866fs) rs1131690997
NM_001083602.2(PTCH1):c.2599G>A (p.Ala867Thr) rs373120584
NM_001083602.2(PTCH1):c.2601G>A (p.Ala867=) rs111446700
NM_001083602.2(PTCH1):c.2605G>C (p.Ala869Pro) rs1554691676
NM_001083602.2(PTCH1):c.2635C>T (p.Arg879Ter) rs1064794260
NM_001083602.2(PTCH1):c.2661C>T (p.Ala887=) rs142131559
NM_001083602.2(PTCH1):c.2668A>G (p.Met890Val) rs587780699
NM_001083602.2(PTCH1):c.270A>G (p.Gln90=) rs200729445
NM_001083602.2(PTCH1):c.2715T>C (p.Tyr905=) rs2229062
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2807C>T (p.Thr936Met) rs769924767
NM_001083602.2(PTCH1):c.2829C>A (p.Tyr943Ter) rs747234651
NM_001083602.2(PTCH1):c.2829C>T (p.Tyr943=) rs747234651
NM_001083602.2(PTCH1):c.284_293del (p.Thr95fs) rs1131690981
NM_001083602.2(PTCH1):c.2909T>A (p.Leu970Ter) rs1554691359
NM_001083602.2(PTCH1):c.2932G>A (p.Ala978Thr) rs138458710
NM_001083602.2(PTCH1):c.2937_2940CTTC[1] (p.Phe980_Leu981insTer) rs1131690980
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.2952C>T (p.Pro984=) rs149398794
NM_001083602.2(PTCH1):c.2954G>A (p.Trp985Ter) rs1060502301
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.302C>A (p.Ala101Asp) rs587780707
NM_001083602.2(PTCH1):c.3042C>T (p.Ala1014=) rs200347952
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3093C>T (p.Thr1031=) rs141016655
NM_001083602.2(PTCH1):c.30G>A (p.Pro10=) rs140542305
NM_001083602.2(PTCH1):c.3106T>G (p.Leu1036Val) rs1554690984
NM_001083602.2(PTCH1):c.3109-4A>C rs1554690494
NM_001083602.2(PTCH1):c.3115C>T (p.Leu1039=) rs773043594
NM_001083602.2(PTCH1):c.3162G>A (p.Glu1054=) rs1554690458
NM_001083602.2(PTCH1):c.3166_3167del (p.Met1056fs) rs1060502273
NM_001083602.2(PTCH1):c.3174A>T (p.Ala1058=) rs756638660
NM_001083602.2(PTCH1):c.3177C>T (p.Pro1059=) rs369760318
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3199A>G (p.Thr1067Ala) rs1131690996
NM_001083602.2(PTCH1):c.3206T>C (p.Leu1069Pro) rs1131690989
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.3225G>A (p.Ala1075=) rs745948150
NM_001083602.2(PTCH1):c.3237C>T (p.Phe1079=) rs200435277
NM_001083602.2(PTCH1):c.3240C>T (p.Asp1080=) rs1554690401
NM_001083602.2(PTCH1):c.3242T>C (p.Phe1081Ser) rs1131690990
NM_001083602.2(PTCH1):c.3244A>G (p.Ile1082Val) rs369265532
NM_001083602.2(PTCH1):c.3261del (p.Phe1087fs) rs1131690976
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3301G>A (p.Gly1101Arg) rs1131690985
NM_001083602.2(PTCH1):c.3318C>T (p.Pro1106=) rs775292833
NM_001083602.2(PTCH1):c.3333C>T (p.Phe1111=) rs587780702
NM_001083602.2(PTCH1):c.3366C>T (p.Asn1122=) rs864622621
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3377G>A (p.Arg1126His) rs762040036
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
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.3426C>A (p.Ala1142=) rs149691476
NM_001083602.2(PTCH1):c.3426C>T (p.Ala1142=) rs149691476
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.3435C>G (p.Pro1145=) rs56007343
NM_001083602.2(PTCH1):c.3435C>T (p.Pro1145=) rs56007343
NM_001083602.2(PTCH1):c.3436G>A (p.Gly1146Ser) rs559827048
NM_001083602.2(PTCH1):c.3443C>T (p.Thr1148Met) rs200029534
NM_001083602.2(PTCH1):c.3450C>T (p.Ser1150=) rs377608291
NM_001083602.2(PTCH1):c.3471G>A (p.Ser1157=) rs780515178
NM_001083602.2(PTCH1):c.3489G>A (p.Thr1163=) rs139123130
NM_001083602.2(PTCH1):c.3494T>C (p.Val1165Ala) rs182045135
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.3568G>A (p.Val1190Met) rs150850039
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.3618C>T (p.Pro1206=) rs369295226
NM_001083602.2(PTCH1):c.3638C>T (p.Pro1213Leu) rs747128318
NM_001083602.2(PTCH1):c.3641C>T (p.Ser1214Leu) rs201595274
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.369T>C (p.His123=) rs150759973
NM_001083602.2(PTCH1):c.36G>A (p.Trp12Ter) rs1554708787
NM_001083602.2(PTCH1):c.3709C>T (p.Arg1237Cys) rs56102979
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.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001083602.2(PTCH1):c.3756G>A (p.Pro1252=) rs45529536
NM_001083602.2(PTCH1):c.3758G>A (p.Arg1253His) rs572658914
NM_001083602.2(PTCH1):c.3765C>T (p.Asp1255=) rs139071993
NM_001083602.2(PTCH1):c.3794C>G (p.Ser1265Cys) rs150373546
NM_001083602.2(PTCH1):c.3828C>T (p.Arg1276=) rs576944494
NM_001083602.2(PTCH1):c.3829G>A (p.Gly1277Arg) rs200100952
NM_001083602.2(PTCH1):c.3846C>T (p.Asn1282=) rs1412873206
NM_001083602.2(PTCH1):c.3850C>T (p.Arg1284Trp) rs140417636
NM_001083602.2(PTCH1):c.3853A>G (p.Asn1285Asp) rs786204103
NM_001083602.2(PTCH1):c.3861G>A (p.Ala1287=) rs368110756
NM_001083602.2(PTCH1):c.3871A>G (p.Met1291Val) rs757909121
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.3918G>A (p.Thr1306=) rs776937004
NM_001083602.2(PTCH1):c.3930C>T (p.Ser1310=) rs142148876
NM_001083602.2(PTCH1):c.3936T>C (p.Thr1312=) rs775499386
NM_001083602.2(PTCH1):c.3939C>T (p.Val1313=) rs149091602
NM_001083602.2(PTCH1):c.3942C>T (p.Ala1314=) rs752595145
NM_001083602.2(PTCH1):c.3943G>A (p.Val1315Met) rs187104739
NM_001083602.2(PTCH1):c.3954G>A (p.Pro1318=) rs761887390
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.3987G>A (p.Gly1329=) rs769616992
NM_001083602.2(PTCH1):c.4-1561G>A rs1131690967
NM_001083602.2(PTCH1):c.4-1576G>T rs781768965
NM_001083602.2(PTCH1):c.4-1589C>T rs368563182
NM_001083602.2(PTCH1):c.4-1616T>C rs141976046
NM_001083602.2(PTCH1):c.4-1640T>C rs368070922
NM_001083602.2(PTCH1):c.4-1650G>A rs143494325
NM_001083602.2(PTCH1):c.4-1650G>C rs143494325
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
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.4-1786GGC[5] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[8] rs71366293
NM_001083602.2(PTCH1):c.4-2A>C rs878853849
NM_001083602.2(PTCH1):c.4014T>C (p.Thr1338=) rs139086753
NM_001083602.2(PTCH1):c.4020C>T (p.His1340=) rs372558350
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4038C>G (p.Pro1346=) rs369083374
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.4057C>A (p.Arg1353=) rs139942632
NM_001083602.2(PTCH1):c.4076C>T (p.Ser1359Leu) rs587778630
NM_001083602.2(PTCH1):c.4104C>T (p.Asp1368=) rs201357130
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083602.2(PTCH1):c.415A>C (p.Lys139Gln) rs1554700724
NM_001083602.2(PTCH1):c.426G>A (p.Glu142=) rs777231059
NM_001083602.2(PTCH1):c.456+3A>G rs1131690966
NM_001083602.2(PTCH1):c.465_466AT[1] (p.Tyr156fs) rs1131690993
NM_001083602.2(PTCH1):c.517dup (p.Ala173fs) rs1131690971
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.543C>A (p.Tyr181Ter) rs1060502281
NM_001083602.2(PTCH1):c.548+1G>C rs1131690994
NM_001083602.2(PTCH1):c.55A>G (p.Arg19Gly) rs1554708772
NM_001083602.2(PTCH1):c.566G>A (p.Arg189Gln) rs779870576
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.603G>A (p.Glu201=) rs374155092
NM_001083602.2(PTCH1):c.609_612del (p.Lys203_Lys204insTer) rs1131690969
NM_001083602.2(PTCH1):c.679_689del (p.Asp227fs) rs1131690973
NM_001083602.2(PTCH1):c.684C>T (p.Arg228=) rs145893445
NM_001083602.2(PTCH1):c.686C>T (p.Pro229Leu) rs370755364
NM_001083602.2(PTCH1):c.688del (p.Cys230fs) rs1131690987
NM_001083602.2(PTCH1):c.699G>A (p.Pro233=) rs56141639
NM_001083602.2(PTCH1):c.6G>T (p.Gly2=) rs547930654
NM_001083602.2(PTCH1):c.720C>T (p.Ala240=) rs1005939298
NM_001083602.2(PTCH1):c.747+2T>C rs1131690979
NM_001083602.2(PTCH1):c.803_812del (p.Tyr268fs) rs1554699612
NM_001083602.2(PTCH1):c.824T>A (p.Leu275Ter) rs1131690970
NM_001083602.2(PTCH1):c.860A>G (p.Lys287Arg) rs757579309
NM_001083602.2(PTCH1):c.869+5G>C rs372657547
NM_001083602.2(PTCH1):c.870-1G>T rs1085307752
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.882G>A (p.Leu294=) rs2066839
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831
NM_001083602.2(PTCH1):c.921del (p.Met306_Tyr307insTer) rs1131691002
NM_001083602.2(PTCH1):c.939C>T (p.Tyr313=) rs587780690
NM_001083602.2(PTCH1):c.954C>A (p.His318Gln) rs200246772
NM_001083602.2(PTCH1):c.966C>T (p.Asn322=) rs201602238
NM_001083602.2(PTCH1):c.96C>A (p.Cys32Ter) rs1131690968
NM_001083602.2(PTCH1):c.985A>G (p.Ile329Val) rs139498131
NM_001083602.2(PTCH1):c.99C>T (p.Gly33=) rs772407797

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