ClinVar Miner

List of variants in gene PTCH1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP
NM_000264.3(PTCH1):c.-8303G>T rs185570125
NM_000264.3(PTCH1):c.258_259delCT (p.Leu87Ilefs) rs864622212
NM_000264.3(PTCH1):c.3042delC (p.Phe1015Serfs) rs886039540
NM_000264.3(PTCH1):c.3044_3071del28 (p.Phe1015Serfs) rs886039678
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.3(PTCH1):c.606delG (p.Leu202Phefs) rs1064794117
NM_000264.3(PTCH1):c.945+3_945+6delGAGT rs1064795637
NM_000264.4(PTCH1):c.*1+20dup rs1064796211
NM_000264.4(PTCH1):c.-12_-4delGGCGGCGGC rs71366293
NM_000264.4(PTCH1):c.-12_-4dup rs71366293
NM_000264.4(PTCH1):c.-14G>T rs1057523782
NM_000264.4(PTCH1):c.-15_-4delGGCGGCGGCGGC rs71366293
NM_000264.4(PTCH1):c.-18G>A rs1057522532
NM_000264.4(PTCH1):c.-20G>A rs886742178
NM_000264.4(PTCH1):c.-6_-4delGGC rs71366293
NM_000264.4(PTCH1):c.-9_-1dup rs1064795042
NM_000264.4(PTCH1):c.1067+5G>C rs372657547
NM_000264.4(PTCH1):c.1068-1G>A rs1085307752
NM_000264.4(PTCH1):c.1080G>A (p.Leu360=) rs2066839
NM_000264.4(PTCH1):c.1086dup (p.Met363Hisfs) rs1064793474
NM_000264.4(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.4(PTCH1):c.114dup (p.Leu39Alafs) rs751977093
NM_000264.4(PTCH1):c.1153A>G (p.Ile385Val) rs977358021
NM_000264.4(PTCH1):c.1215+14C>T rs367857273
NM_000264.4(PTCH1):c.1215+15G>T rs781602634
NM_000264.4(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759
NM_000264.4(PTCH1):c.123T>C (p.Arg41=) rs368070922
NM_000264.4(PTCH1):c.125C>G (p.Ala42Gly) rs1030446889
NM_000264.4(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.4(PTCH1):c.1348-2A>G rs1064793978
NM_000264.4(PTCH1):c.1405_1423del (p.Val469Cysfs) rs1554698587
NM_000264.4(PTCH1):c.1419C>T (p.Gly473=) rs774841100
NM_000264.4(PTCH1):c.1488C>T (p.Asn496=) rs577742581
NM_000264.4(PTCH1):c.1503+19A>T rs201193230
NM_000264.4(PTCH1):c.1503+1G>C rs864622293
NM_000264.4(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.4(PTCH1):c.1504-1G>C rs1057518400
NM_000264.4(PTCH1):c.1544T>A (p.Val515Asp) rs1057518491
NM_000264.4(PTCH1):c.1585A>T (p.Lys529Ter) rs780434261
NM_000264.4(PTCH1):c.1603-2A>G rs1064793921
NM_000264.4(PTCH1):c.1615dup (p.Glu539Glyfs) rs878853847
NM_000264.4(PTCH1):c.1665_1666delTGinsCA (p.Val556Ile) rs1064795375
NM_000264.4(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.4(PTCH1):c.2561-1G>A rs1131691700
NM_000264.4(PTCH1):c.2595C>T (p.Thr865=) rs144512837
NM_000264.4(PTCH1):c.2626G>T (p.Gly876Ter) rs1131691758
NM_000264.4(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896
NM_000264.4(PTCH1):c.2701C>T (p.Gln901Ter) rs1064796618
NM_000264.4(PTCH1):c.2704-11C>T rs779097397
NM_000264.4(PTCH1):c.2712dup (p.Gln905Thrfs) rs143091773
NM_000264.4(PTCH1):c.2787C>T (p.Asn929=) rs145196322
NM_000264.4(PTCH1):c.2799G>A (p.Ala933=) rs111446700
NM_000264.4(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.4(PTCH1):c.2860_2869delGACTACATGCinsTAGT (p.Asp954_Gly1291delinsTer) rs1064793991
NM_000264.4(PTCH1):c.2888-8C>T rs567994836
NM_000264.4(PTCH1):c.2899G>T (p.Glu967Ter) rs886041943
NM_000264.4(PTCH1):c.2913T>C (p.Tyr971=) rs2229062
NM_000264.4(PTCH1):c.3150C>T (p.Pro1050=) rs149398794
NM_000264.4(PTCH1):c.3169-17T>A rs375034864
NM_000264.4(PTCH1):c.3169-1G>A rs1060502285
NM_000264.4(PTCH1):c.3169-5T>C rs367654039
NM_000264.4(PTCH1):c.3291C>T (p.Thr1097=) rs141016655
NM_000264.4(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.4(PTCH1):c.3393G>T (p.Val1131=) rs1267662604
NM_000264.4(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532
NM_000264.4(PTCH1):c.3449+11G>A rs568528640
NM_000264.4(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.4(PTCH1):c.3606C>T (p.Pro1202=) rs138240178
NM_000264.4(PTCH1):c.3617G>A (p.Arg1206His) rs560967532
NM_000264.4(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672
NM_000264.4(PTCH1):c.3642G>A (p.Thr1214=) rs143974523
NM_000264.4(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135
NM_000264.4(PTCH1):c.36C>T (p.Asp12=) rs1057522533
NM_000264.4(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.4(PTCH1):c.3876C>T (p.Ser1292=) rs752197356
NM_000264.4(PTCH1):c.3908G>A (p.Arg1303His) rs779365332
NM_000264.4(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645
NM_000264.4(PTCH1):c.394+1G>A rs1131690995
NM_000264.4(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.4(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.4(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.4(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.4(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636
NM_000264.4(PTCH1):c.4050G>A (p.Arg1350=) rs748440992
NM_000264.4(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820
NM_000264.4(PTCH1):c.4128C>T (p.Ser1376=) rs142148876
NM_000264.4(PTCH1):c.4141G>A (p.Val1381Met) rs187104739
NM_000264.4(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658
NM_000264.4(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486
NM_000264.4(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.4(PTCH1):c.4240G>A (p.Val1414Met) rs149667902
NM_000264.4(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883
NM_000264.4(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000264.4(PTCH1):c.489_490insTA (p.Glu164Terfs) rs1064796259
NM_000264.4(PTCH1):c.48C>T (p.Gly16=) rs587780706
NM_000264.4(PTCH1):c.564_569delCCATGT (p.His189_Val190del) rs1554702032
NM_000264.4(PTCH1):c.567T>C (p.His189=) rs150759973
NM_000264.4(PTCH1):c.56G>T (p.Gly19Val) rs587780708
NM_000264.4(PTCH1):c.585-1G>C rs1057520590
NM_000264.4(PTCH1):c.590G>A (p.Trp197Ter) rs1064793922
NM_000264.4(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.4(PTCH1):c.801G>A (p.Glu267=) rs374155092
NM_000264.4(PTCH1):c.817_820delTATCinsGAT (p.Tyr273Aspfs) rs1554699969
NM_000264.4(PTCH1):c.822del (p.Val275Trpfs) rs1554699964
NM_000264.4(PTCH1):c.90C>T (p.Gly30=) rs1266520658
NM_000264.4(PTCH1):c.945+20G>A rs374618901
NM_000264.4(PTCH1):c.945+9C>T rs878853860
NM_001083602.2(PTCH1):c.3116dup (p.Thr1040Aspfs) rs1554690484
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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