ClinVar Miner

List of variants in gene PTCH1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.95517088T>A rs28704635
NM_000264.5(PTCH1):c.*1+18dup rs1064796211
NM_000264.5(PTCH1):c.*1+229G>A rs111532669
NM_000264.5(PTCH1):c.-14G>T rs1057523782
NM_000264.5(PTCH1):c.-18G>A rs1057522532
NM_000264.5(PTCH1):c.-20G>A rs886742178
NM_000264.5(PTCH1):c.-24_-22GGC[10] rs71366293
NM_000264.5(PTCH1):c.-24_-22GGC[3] rs71366293
NM_000264.5(PTCH1):c.-24_-22GGC[4] rs71366293
NM_000264.5(PTCH1):c.-24_-22GGC[6] rs71366293
NM_000264.5(PTCH1):c.-9_-1dup (p.Met1_Ala2insGlyGlyAsn) rs1064795042
NM_000264.5(PTCH1):c.1067+139T>C rs2274694
NM_000264.5(PTCH1):c.1067+5G>C rs372657547
NM_000264.5(PTCH1):c.1068-1G>A rs1085307752
NM_000264.5(PTCH1):c.1080G>A (p.Leu360=) rs2066839
NM_000264.5(PTCH1):c.1086dup (p.Met363fs) rs1064793474
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.114del (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.114dup (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1153A>G (p.Ile385Val) rs977358021
NM_000264.5(PTCH1):c.1215+143C>T rs55986818
NM_000264.5(PTCH1):c.1215+14C>T rs367857273
NM_000264.5(PTCH1):c.1215+15G>T rs781602634
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser) rs370354759
NM_000264.5(PTCH1):c.123T>C (p.Arg41=) rs368070922
NM_000264.5(PTCH1):c.125C>G (p.Ala42Gly) rs1030446889
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.5(PTCH1):c.1348-136C>T rs2297086
NM_000264.5(PTCH1):c.1348-2A>G rs1064793978
NM_000264.5(PTCH1):c.1405_1423del (p.Val469fs) rs1554698587
NM_000264.5(PTCH1):c.1419C>T (p.Gly473=) rs774841100
NM_000264.5(PTCH1):c.1488C>T (p.Asn496=) rs577742581
NM_000264.5(PTCH1):c.1503+19A>T rs201193230
NM_000264.5(PTCH1):c.1503+1G>C rs864622293
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=) rs1085307511
NM_000264.5(PTCH1):c.1504-1G>C rs1057518400
NM_000264.5(PTCH1):c.1504-3T>C rs1588598721
NM_000264.5(PTCH1):c.1544T>A (p.Val515Asp) rs1057518491
NM_000264.5(PTCH1):c.1585A>T (p.Lys529Ter) rs780434261
NM_000264.5(PTCH1):c.1602+181A>G rs2277183
NM_000264.5(PTCH1):c.1603-2A>G rs1064793921
NM_000264.5(PTCH1):c.1615dup (p.Glu539fs) rs878853847
NM_000264.5(PTCH1):c.1661G>A (p.Ser554Asn) rs148367880
NM_000264.5(PTCH1):c.1665_1666inv (p.Val556Ile)
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter) rs781768965
NM_000264.5(PTCH1):c.202-217C>T rs145922731
NM_000264.5(PTCH1):c.202-75_202-58dup rs772121315
NM_000264.5(PTCH1):c.2561-1G>A rs1131691700
NM_000264.5(PTCH1):c.2561-20C>A rs1361292543
NM_000264.5(PTCH1):c.256_257CT[1] (p.Leu87fs) rs864622212
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837
NM_000264.5(PTCH1):c.2626G>T (p.Gly876Ter) rs1131691758
NM_000264.5(PTCH1):c.2634C>T (p.Asp878=) rs771732591
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter) rs1064796618
NM_000264.5(PTCH1):c.2704-11C>T rs779097397
NM_000264.5(PTCH1):c.2712dup (p.Gln905fs) rs143091773
NM_000264.5(PTCH1):c.2760C>T (p.Tyr920=) rs1588544909
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322
NM_000264.5(PTCH1):c.278dup (p.Tyr93Ter) rs1587693544
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2860_2869delinsTAGT (p.Asp954_Pro957delinsTer) rs1064793991
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.2899G>T (p.Glu967Ter) rs886041943
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309
NM_000264.5(PTCH1):c.3042del (p.Phe1015fs) rs886039540
NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs) rs886039678
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.5(PTCH1):c.3169-17T>A rs375034864
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.3169-5T>C rs367654039
NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=) rs141016655
NM_000264.5(PTCH1):c.3314dup (p.Thr1106fs) rs1554690484
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.5(PTCH1):c.3393G>T (p.Val1131=) rs1267662604
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532
NM_000264.5(PTCH1):c.3449+11G>A rs568528640
NM_000264.5(PTCH1):c.3449+129A>G rs28583690
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His) rs560967532
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr) rs945517672
NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=) rs143974523
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135
NM_000264.5(PTCH1):c.36C>T (p.Asp12=) rs1057522533
NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met) rs150850039
NM_000264.5(PTCH1):c.3805-197T>A rs76562151
NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=) rs752197356
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser) rs1057524645
NM_000264.5(PTCH1):c.394+1G>A rs1131690995
NM_000264.5(PTCH1):c.394+212C>A rs191867316
NM_000264.5(PTCH1):c.395-172T>C rs2282040
NM_000264.5(PTCH1):c.395-231T>C rs2282041
NM_000264.5(PTCH1):c.395-276_395-275insT rs3215874
NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=) rs1554688549
NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys) rs150373546
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter) rs1131690986
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992
NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser) rs767625820
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739
NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu) rs571030658
NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln) rs773676486
NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=) rs1057521043
NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met) rs149667902
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000264.5(PTCH1):c.489_490insTA (p.Glu164Ter) rs1064796259
NM_000264.5(PTCH1):c.48C>T (p.Gly16=) rs587780706
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser) rs778460384
NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del) rs1554702032
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973
NM_000264.5(PTCH1):c.56G>T (p.Gly19Val) rs587780708
NM_000264.5(PTCH1):c.584+177G>A rs28673156
NM_000264.5(PTCH1):c.585-1G>C rs1057520590
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter) rs1064793922
NM_000264.5(PTCH1):c.606del (p.Leu202fs) rs1064794117
NM_000264.5(PTCH1):c.661G>T (p.Glu221Ter) rs1554700647
NM_000264.5(PTCH1):c.747-114C>T rs2297088
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092
NM_000264.5(PTCH1):c.817_820delinsGAT (p.Tyr273fs) rs1554699969
NM_000264.5(PTCH1):c.822del (p.Val275fs) rs1554699964
NM_000264.5(PTCH1):c.90C>T (p.Gly30=) rs1266520658
NM_000264.5(PTCH1):c.945+20G>A rs374618901
NM_000264.5(PTCH1):c.945+3_945+6del rs1064795637
NM_000264.5(PTCH1):c.945+9C>T rs878853860
NM_001083602.3(PTCH1):c.-193G>T rs185570125
NM_001083602.3(PTCH1):c.-435A>T rs142761971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.