Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_016169.4(SUFU):c.1022+1G>A	SNV Germline/somatic	Chr10:102599545	Pathogenic	Condition: not provided Basal cell nevus syndrome 2 SUFU-related disorder Gorlin syndrome Medulloblastoma Medulloblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA116364	rs_587776578	5 SubmittersRCV000524075 RCV003223388 RCV001270787 RCV000814945 RCV002291207 RCV002415392
NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter)	SNV Germline	Chr9:95479134	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA254337	rs_199476090	1 SubmittersRCV000008696
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)	SNV Germline	Chr9:95479055	Pathogenic	Gorlin syndrome Basal cell nevus syndrome 1	Criteria Provided Single Submitter	CA374119328	rs_2118365442	2 SubmittersRCV000008698 RCV004576891
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	SNV Germline	Chr9:95458026	Conflicting classifications of pathogenicity	Holoprosencephaly 7 Condition: not provided Holoprosencephaly sequence not specified Hereditary cancer-predisposing syndrome Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA161680	rs_138911275	18 SubmittersRCV000008707 RCV000034570 RCV000148761 RCV000121888 RCV000574977 RCV001081022 RCV004547468
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)	SNV Germline	Chr10:121517363	Pathogenic/Likely pathogenic	Crouzon syndrome FGFR2-related craniosynostosis 22 conditions Condition: not provided Pfeiffer syndrome Meier-Gorlin syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA280173	rs_121918494	9 SubmittersRCV000014190 RCV000655421 RCV000626619 RCV000726654 RCV001823713 RCV004813038
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)	SNV Germline	Chr9:95506414	Pathogenic	Gorlin syndrome Basal cell nevus syndrome 1	Criteria Provided Single Submitter	CA374120145	rs_1587692888	2 SubmittersRCV000030726 RCV004576912
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)	SNV Germline	Chr9:95467191	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome Microform holoprosencephaly not specified	Criteria Provided Conflicting Classifications	CA215690	rs_201125580	8 SubmittersRCV000034566 RCV001082796 RCV000570547 RCV005364908 RCV003150938
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)	SNV Germline	Chr9:95459653	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA215700	rs_201118857	4 SubmittersRCV000034568 RCV000195909 RCV001016730 RCV005417444
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)	SNV Germline	Chr9:95456335	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Gorlin syndrome	Criteria Provided Conflicting Classifications	CA215710	rs_202052415	6 SubmittersRCV000034571 RCV000537682 RCV001019424 RCV001535776
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	SNV Germline	Chr9:95449903	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA161699	rs_113663584	14 SubmittersRCV000034572 RCV000121892 RCV000573988 RCV001080851 RCV001166788
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)	SNV Germline	Chr9:95447366	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA215715	rs_386833412	5 SubmittersRCV000034574 RCV001086011 RCV001021367
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)	SNV Germline	Chr9:95447229	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Holoprosencephaly 7 not specified Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA215720	rs_200100952	7 SubmittersRCV000034576 RCV000226140 RCV000318986 RCV000481212 RCV000565419 RCV004549398
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	SNV Germline	Chr9:95446932	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome not specified Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA161734	rs_143464326	15 SubmittersRCV000034578 RCV000199648 RCV000121899 RCV000390677 RCV000492787 RCV005357254
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	SNV Germline	Chr9:95446931	Conflicting classifications of pathogenicity	Condition: not provided not specified Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA161749	rs_56023271	14 SubmittersRCV000034579 RCV000121903 RCV000123037 RCV000340228 RCV000575546 RCV004549400
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	SNV Germline	Chr9:95447309	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Rieger anomaly Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome Holoprosencephaly 7 PTCH1-related disorder not specified Holoprosencephaly 7 Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA332023	rs_147067171	10 SubmittersRCV000207364 RCV000492441 RCV000588636 RCV001084106 RCV001166719 RCV004551169 RCV005229921 RCV005394406
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	SNV Germline	Chr9:95447337	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 PTCH1-related disorder not specified Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA332089	rs_574880967	10 SubmittersRCV000119211 RCV000567632 RCV000764839 RCV001166720 RCV004551172 RCV005229922 RCV005394410 RCV003237716
NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)	SNV Germline	Chr9:95508223	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA161655	rs_138729094	5 SubmittersRCV000121882 RCV000462282 RCV001011386 RCV004998242
NM_000264.5(PTCH1):c.104G>A (p.Arg35Gln)	SNV Germline	Chr9:95508258	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA161658	rs_587778627	4 SubmittersRCV000121883 RCV000467292 RCV001017129 RCV004998243
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)	SNV Germline	Chr9:95467118	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Basal cell nevus syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA161675	rs_587778628	6 SubmittersRCV000121887 RCV000462194 RCV005055073 RCV002255299 RCV003126502
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)	SNV Germline	Chr9:95456341	Conflicting classifications of pathogenicity	Gorlin syndrome not specified Anophthalmia-microphthalmia syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA161684	rs_587778629	9 SubmittersRCV000123021 RCV000121889 RCV000207354 RCV000562142 RCV003477514
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)	SNV Germline	Chr9:95453551	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA161694	rs_147025073	10 SubmittersRCV000121891 RCV000575313 RCV000167898 RCV001085114 RCV004551190
NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)	SNV Germline	Chr9:95449256	Conflicting classifications of pathogenicity	Gorlin syndrome not specified Hereditary cancer-predisposing syndrome Polydactyly of a triphalangeal thumb Holoprosencephaly 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA161709	rs_560967532	10 SubmittersRCV000123028 RCV000121894 RCV000570402 RCV001078464 RCV001166262 RCV001357018
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)	SNV Germline	Chr9:95447094	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA161739	rs_587778631	8 SubmittersRCV000121900 RCV000557708 RCV000766068 RCV002326826 RCV003128392 RCV004551192
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)	SNV Germline	Chr9:95446953	Conflicting classifications of pathogenicity	not specified Retinoblastoma Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA161744	rs_587778632	4 SubmittersRCV000121902 RCV000761023 RCV001022254 RCV001036592
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)	SNV Germline	Chr10:102599544	Conflicting classifications of pathogenicity	not specified Microform holoprosencephaly Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA162210	rs_587778699	5 SubmittersRCV000122096 RCV000223867 RCV001017035 RCV000816377 RCV004794363
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)	SNV Germline	Chr10:102615290	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome Medulloblastoma Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 Familial meningioma	Criteria Provided Conflicting Classifications	CA162216	rs_368178771	8 SubmittersRCV000122098 RCV000562404 RCV000726658 RCV000471241 RCV000763642 RCV003460861
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr10:102615329	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA162219	rs_36049457	6 SubmittersRCV000122099 RCV000570457 RCV000462856 RCV001799621
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)	SNV Germline	Chr10:102615273	Conflicting classifications of pathogenicity	not specified Medulloblastoma Condition: not provided Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 SUFU-related disorder	Criteria Provided Conflicting Classifications	CA162222	rs_79299301	11 SubmittersRCV000122100 RCV000260834 RCV001354923 RCV000466509 RCV000566455 RCV003467081 RCV000763641 RCV004737208
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)	SNV Germline	Chr10:102615350	Conflicting classifications of pathogenicity	not specified Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma Medulloblastoma Familial meningioma Joubert syndrome 32 Basal cell nevus syndrome 2	Criteria Provided Conflicting Classifications	CA162225	rs_149449923	8 SubmittersRCV000122101 RCV000525787 RCV001009905 RCV003126503 RCV004567055 RCV005025197
NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val)	SNV Germline	Chr9:95479029	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332443	rs_371424684	2 SubmittersRCV000122995 RCV002336269
NM_000264.5(PTCH1):c.134C>G (p.Pro45Arg)	SNV Germline	Chr9:95508228	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA332457	rs_587780692	3 SubmittersRCV000123000 RCV001011023 RCV004998247
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg)	SNV Germline	Chr9:95468824	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA332483	rs_587780697	7 SubmittersRCV000123007 RCV000568151 RCV001166904 RCV003477519 RCV004551203
NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)	SNV Germline	Chr9:95459621	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332515	rs_587780699	3 SubmittersRCV000123017 RCV000566411
NM_000264.5(PTCH1):c.2887+10G>A	SNV Germline	Chr9:95459590	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA332520	rs_202081420	4 SubmittersRCV000123018 RCV000393428 RCV001529354
NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His)	SNV Germline	Chr9:95458252	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332521	rs_587780700	2 SubmittersRCV000123019 RCV005462897
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=)	SNV Germline	Chr9:95449249	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA332543	rs_149691476	6 SubmittersRCV000123029 RCV000567411 RCV001166261 RCV003477522 RCV005394445
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)	SNV Germline	Chr9:95449181	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA332548	rs_182045135	6 SubmittersRCV000123030 RCV000355490 RCV000573233 RCV000604409 RCV003430683
NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys)	SNV Germline	Chr9:95485839	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA332574	rs_587780705	3 SubmittersRCV000123036 RCV001022266 RCV003332124
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)	SNV Germline	Chr9:95485769	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA332582	rs_587780707	4 SubmittersRCV000123039 RCV000570937 RCV002460925 RCV003467087
NM_000264.5(PTCH1):c.56G>T (p.Gly19Val)	SNV Germline	Chr9:95508306	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332592	rs_587780708	3 SubmittersRCV000123041 RCV000484179 RCV001024431
NM_000264.5(PTCH1):c.646A>G (p.Met216Val)	SNV Germline	Chr9:95482142	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA332595	rs_587780709	3 SubmittersRCV000123042 RCV002362751 RCV004998248
NM_000264.5(PTCH1):c.801G>A (p.Glu267=)	SNV Germline	Chr9:95480534	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA332600	rs_374155092	6 SubmittersRCV000123043 RCV000566391 RCV001166512 RCV001697048 RCV004551209
NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu)	SNV Germline	Chr9:95480451	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA332605	rs_370755364	6 SubmittersRCV000123044 RCV000572914 RCV001166511 RCV003227671 RCV005042238
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)	SNV Germline	Chr9:95479122	Pathogenic	Gorlin syndrome Basal cell nevus syndrome 1	Criteria Provided Single Submitter	CA270768	rs_267606984	3 SubmittersRCV000144436 RCV004576922
NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)	SNV Germline	Chr9:95453505	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA272946	rs_376844749	5 SubmittersRCV000148762 RCV000570061 RCV003462056 RCV004998303
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln)	SNV Germline	Chr9:95458236	Conflicting classifications of pathogenicity	Congenital heart disease Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA211754	rs_145924695	4 SubmittersRCV000148763 RCV000553221 RCV002433641 RCV003477565
NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)	SNV Germline	Chr9:95478168	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA272951	rs_370354759	8 SubmittersRCV000148764 RCV001010476 RCV001719925 RCV004551298
NM_000264.5(PTCH1):c.395-1G>A	SNV Germline	Chr9:95485875	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1 Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1 PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA233400	rs_368869806	12 SubmittersRCV000149897 RCV001021506 RCV001580459 RCV004567170 RCV005042291 RCV004551300
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg)	SNV Germline	Chr9:95468896	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell nevus syndrome 1 PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA333764	rs_368362152	7 SubmittersRCV000161923 RCV000571964 RCV001560072 RCV005600766 RCV004737255
NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp)	SNV Germline	Chr9:95447057	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA334134	rs_786204094	3 SubmittersRCV000168010 RCV003322756 RCV003162720
NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)	SNV Germline	Chr9:95447205	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA334165	rs_786204103	4 SubmittersRCV000168033 RCV000571329 RCV000764835 RCV004760416
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)	SNV Germline	Chr9:95447255	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 PTCH1-related disorder not specified	Criteria Provided Conflicting Classifications	CA334117	rs_200620662	6 SubmittersRCV000167997 RCV001021641 RCV001589046 RCV002492679 RCV004552935 RCV005230028
NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe)	SNV Germline	Chr9:95447264	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA334332	rs_150373546	3 SubmittersRCV000168137 RCV001589048 RCV001021597
NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)	SNV Germline	Chr9:95447341	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA334555	rs_786204201	3 SubmittersRCV000168289 RCV002281066 RCV002372055
NM_000264.5(PTCH1):c.3168+2T>C	SNV Germline	Chr9:95458011	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA333995	rs_786204056	1 SubmittersRCV000167915
NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly)	SNV Germline	Chr9:95459705	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA334645	rs_786204224	2 SubmittersRCV000168358 RCV004020006
NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp)	SNV Germline	Chr9:95467181	Likely pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA334396	rs_786204167	1 SubmittersRCV000168180
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)	SNV Germline	Chr9:95467236	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA334170	rs_754623561	5 SubmittersRCV000168036 RCV000764845 RCV001015555 RCV003462255 RCV004998362
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp)	SNV Germline	Chr9:95469059	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA333941	rs_149762881	4 SubmittersRCV000167878 RCV004567357 RCV002408725 RCV004998360
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)	SNV Germline	Chr9:95506477	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA334074	rs_144182921	8 SubmittersRCV000167969 RCV000585211 RCV000574912 RCV003330527 RCV001167033
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)	SNV Germline	Chr9:95508249	Conflicting classifications of pathogenicity	Condition: not provided not specified Gorlin syndrome PTCH1-related disorder Hereditary cancer-predisposing syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA334489	rs_143494325	13 SubmittersRCV000514130 RCV000605007 RCV001085973 RCV004552937 RCV000569065 RCV001168741
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)	SNV Germline	Chr9:95508325	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 not specified PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA334329	rs_779791579	11 SubmittersRCV000168136 RCV000388546 RCV000567817 RCV000512831 RCV000764853 RCV004689645 RCV004552936
NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=)	SNV Germline	Chr9:95447296	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA242278	rs_371761874	4 SubmittersRCV000176357 RCV000197006 RCV001021531
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)	SNV Germline	Chr9:95447115	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA339439	rs_187104739	7 SubmittersRCV000200618 RCV000489808 RCV000567164 RCV000780653 RCV001168387
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His)	SNV Germline	Chr9:95447222	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA338163	rs_766315655	3 SubmittersRCV000198754 RCV001021723
NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn)	SNV Germline	Chr9:95447343	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA339428	rs_368528885	2 SubmittersRCV000200607 RCV002321797
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)	SNV Germline	Chr9:95447440	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA337463	rs_369295226	7 SubmittersRCV000197817 RCV000576016 RCV003237760 RCV005230067
NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)	SNV Germline	Chr9:95449244	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA338796	rs_781062564	5 SubmittersRCV000199692 RCV000563841 RCV003129802 RCV005230070
NM_000264.5(PTCH1):c.3450-2A>G	SNV Germline	Chr9:95449942	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA336742	rs_863224443	1 SubmittersRCV000196825
NM_000264.5(PTCH1):c.3449+1G>A	SNV Germline	Chr9:95453477	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA336067	rs_863224442	1 SubmittersRCV000195968
NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)	SNV Germline	Chr9:95453504	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA337965	rs_745948150	5 SubmittersRCV000198505 RCV000291378 RCV000572494 RCV002478706 RCV004737314
NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr)	SNV Germline	Chr9:95453539	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA336551	rs_766037357	3 SubmittersRCV000196599 RCV001020163 RCV003441778
NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu)	SNV Germline	Chr9:95453580	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA338689	rs_863224653	4 SubmittersRCV000199513 RCV001020051 RCV004760428
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)	SNV Germline	Chr9:95461924	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA339119	rs_750373573	7 SubmittersRCV000200138 RCV000571728 RCV000764844 RCV003477667 RCV004737313
NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=)	SNV Germline	Chr9:95467135	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA339572	rs_863224347	3 SubmittersRCV000200833 RCV001015885 RCV003477657
NM_000264.5(PTCH1):c.2035G>A (p.Ala679Thr)	SNV Germline	Chr9:95468966	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA335838	rs_771882746	2 SubmittersRCV000195690 RCV002415852
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)	SNV Germline	Chr9:95469851	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome PTCH1-related disorder not specified Holoprosencephaly 7 Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA338370	rs_145690756	7 SubmittersRCV000199059 RCV000569655 RCV002503775 RCV004737311 RCV005230062 RCV005396601
NM_000264.5(PTCH1):c.1216-6C>A	SNV Germline	Chr9:95478192	Conflicting classifications of pathogenicity	Holoprosencephaly 7 Condition: not provided Gorlin syndrome not specified Hereditary cancer-predisposing syndrome PTCH1-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA336999	rs_186008764	11 SubmittersRCV000381847 RCV000513717 RCV000197142 RCV002478705 RCV002257498 RCV004553091 RCV005625441
NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu)	SNV Germline	Chr9:95479087	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA337678	rs_863224648	4 SubmittersRCV000198141 RCV003165466 RCV004567433 RCV005042424
NM_000264.5(PTCH1):c.945+1G>A	SNV Germline	Chr9:95480389	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA338385	rs_863224444	2 SubmittersRCV000199083 RCV002372181
NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter)	SNV Germline	Chr9:95482029	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA338895	rs_863224487	1 SubmittersRCV000199837
NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter)	SNV Germline	Chr9:95482176	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA337335	rs_863224486	1 SubmittersRCV000197615
NM_000264.5(PTCH1):c.552G>T (p.Gln184His)	SNV Germline	Chr9:95485717	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA337075	rs_369893129	3 SubmittersRCV000197270 RCV001024237
NM_000264.5(PTCH1):c.388G>A (p.Val130Met)	SNV Germline	Chr9:95506413	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA338120	rs_746339472	3 SubmittersRCV000198695 RCV000566926 RCV001818488
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)	SNV Germline	Chr9:95508204	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA338476	rs_372546614	4 SubmittersRCV000199229 RCV001012207
NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys)	SNV Germline	Chr9:95508216	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Holoprosencephaly 7 Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA337135	rs_774156512	4 SubmittersRCV000197356 RCV001011751 RCV004777617 RCV005049476
NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)	SNV Germline	Chr9:95508249	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Craniopharyngioma Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA339512	rs_143494325	8 SubmittersRCV000200738 RCV000492756 RCV000761034 RCV001723770 RCV001818487
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr)	SNV Germline	Chr9:95508295	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided Holoprosencephaly 7 Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA338400	rs_863224654	5 SubmittersRCV000199131 RCV001025668 RCV003462326 RCV004998409 RCV005042425
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg)	SNV Germline	Chr9:95477548	Pathogenic/Likely pathogenic	Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279150	rs_863225054	2 SubmittersRCV000201252
NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)	SNV Germline	Chr9:95446928	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA347977	rs_864622100	3 SubmittersRCV000203681 RCV002327059 RCV003319334
NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)	SNV Germline	Chr9:95446943	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA349173	rs_150696398	6 SubmittersRCV000205005 RCV001022274 RCV002485350 RCV002460987
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)	SNV Germline	Chr9:95447004	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA349062	rs_369882883	5 SubmittersRCV000484134 RCV001084929 RCV000561736 RCV004547474
NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala)	SNV Germline	Chr9:95447193	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350325	rs_864622456	3 SubmittersRCV000206264 RCV003462379 RCV002321809
NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)	SNV Germline	Chr9:95447213	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA349324	rs_371943557	4 SubmittersRCV000205121 RCV001021739 RCV000764837 RCV004737329
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr)	SNV Germline	Chr9:95449134	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA347981	rs_369966295	4 SubmittersRCV000203685 RCV002363024 RCV002478728 RCV004553117
NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser)	SNV Germline	Chr9:95449242	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA348197	rs_139495263	3 SubmittersRCV000203911 RCV000562097 RCV005042446
NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=)	SNV Germline	Chr9:95449300	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA348402	rs_773389781	3 SubmittersRCV000204156 RCV003298266 RCV003477676
NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val)	SNV Germline	Chr9:95449902	Likely pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA350612	rs_864622120	1 SubmittersRCV000206594
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val)	SNV Germline	Chr9:95453485	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350753	rs_369265532	3 SubmittersRCV000414011 RCV000206748 RCV000575762
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)	SNV Germline	Chr9:95453555	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA349550	rs_756638660	4 SubmittersRCV000244927 RCV000205391 RCV000571200 RCV001168503
NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His)	SNV Germline	Chr9:95453589	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA348509	rs_143781513	2 SubmittersRCV000204267 RCV001020029
NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)	SNV Germline	Chr9:95453610	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA349072	rs_769691754	4 SubmittersRCV000204886 RCV002508197 RCV001019931 RCV003462362
NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met)	SNV Germline	Chr9:95458057	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA348810	rs_772406487	3 SubmittersRCV000204587 RCV002321821 RCV002494541
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met)	SNV Germline	Chr9:95458081	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA349770	rs_760902564	5 SubmittersRCV000205641 RCV001770154 RCV002321805 RCV004553115
NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His)	SNV Germline	Chr9:95458107	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA349395	rs_370150142	3 SubmittersRCV000205211 RCV001539056 RCV001018474
NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val)	SNV Germline	Chr9:95458171	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA350749	rs_864622620	2 SubmittersRCV000206746 RCV001018057
NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)	SNV Germline	Chr9:95461888	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome not specified Condition: not provided Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1 Ovarian cancer	Criteria Provided Conflicting Classifications	CA349905	rs_570091335	9 SubmittersRCV000205792 RCV000492234 RCV000764843 RCV001800531 RCV003228911 RCV005396654 RCV003153488
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)	SNV Germline	Chr9:95469088	Conflicting classifications of pathogenicity	Gorlin syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA350619	rs_145766839	7 SubmittersRCV001087187 RCV000592243 RCV000756577 RCV001013676 RCV004547480
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)	SNV Germline	Chr9:95476098	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 not specified	Criteria Provided Conflicting Classifications	CA348658	rs_181192122	4 SubmittersRCV000204428 RCV000492139 RCV001166441 RCV005230081
NM_000264.5(PTCH1):c.1503+1G>C	SNV Germline	Chr9:95477546	Pathogenic	Gorlin syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA348486	rs_864622293	2 SubmittersRCV000204242 RCV000478859
NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)	SNV Germline	Chr9:95481968	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA349701	rs_372422922	4 SubmittersRCV000205559 RCV001026226 RCV003462369
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln)	SNV Germline	Chr9:95485865	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA349003	rs_375628555	3 SubmittersRCV000204813 RCV001021749 RCV003151756
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr)	SNV Germline	Chr9:95506508	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA350252	rs_746435405	3 SubmittersRCV000206189 RCV002433907 RCV004760437
NM_000264.5(PTCH1):c.202-6C>T	SNV Germline	Chr9:95506605	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA350531	rs_779129066	2 SubmittersRCV000206513 RCV003477695
NM_000264.5(PTCH1):c.113G>C (p.Gly38Ala)	SNV Germline	Chr9:95508249	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA350340	rs_143494325	5 SubmittersRCV000206274 RCV000569099 RCV001762440 RCV005042445
NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala)	SNV Germline	Chr9:95508348	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA347992	rs_864622762	5 SubmittersRCV000203690 RCV002390556 RCV003462395 RCV003477706
NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)	SNV Germline	Chr9:95456391	Conflicting classifications of pathogenicity	Anophthalmia-microphthalmia syndrome Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA071573	rs_368417828	6 SubmittersRCV000207365 RCV000456174 RCV001019083 RCV004547503 RCV003477708
NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)	SNV Germline	Chr9:95461864	Conflicting classifications of pathogenicity	Irido-corneo-trabecular dysgenesis Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA072669	rs_765371196	4 SubmittersRCV000207421 RCV000791706 RCV002433914 RCV003477709
NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)	SNV Germline	Chr9:95485748	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA358323	rs_772368023	5 SubmittersRCV003477710 RCV000210888 RCV001023749
NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val)	SNV Germline	Chr1:44826293	Conflicting classifications of pathogenicity	Gorlin syndrome not specified	Criteria Provided Conflicting Classifications	CA822815	rs_147567317	3 SubmittersRCV000225933 RCV004020800
NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)	SNV Germline	Chr9:95447073	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA10582672	rs_375626922	3 SubmittersRCV000233151 RCV002327106 RCV003463650
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)	SNV Germline	Chr9:95447301	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137992	rs_375998275	6 SubmittersRCV000228335 RCV000279134 RCV001021516 RCV003237785
NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)	SNV Germline	Chr9:95447343	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA5138008	rs_368528885	5 SubmittersRCV000229142 RCV001021424 RCV001093087 RCV003153522
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)	SNV Germline	Chr9:95449249	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome PTCH1-related disorder Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5138100	rs_149691476	7 SubmittersRCV000565657 RCV000732074 RCV001084986 RCV004547585 RCV005396749
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His)	SNV Germline	Chr9:95449849	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138123	rs_367784268	3 SubmittersRCV000226480 RCV001020562 RCV004760456
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)	SNV Germline	Chr9:95453533	Pathogenic/Likely pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10582674	rs_878853856	3 SubmittersRCV000226160 RCV004020747
NM_000264.5(PTCH1):c.2561-2A>T	SNV Germline	Chr9:95462000	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA10582678	rs_878853852	1 SubmittersRCV000234129
NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter)	SNV Germline	Chr9:95467285	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA10582679	rs_778260156	1 SubmittersRCV000230356
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)	SNV Germline	Chr9:95467373	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA10582681	rs_878853850	3 SubmittersRCV000233705 RCV001015015 RCV005044474
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met)	SNV Germline	Chr9:95468927	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138451	rs_758487789	3 SubmittersRCV000227159 RCV000999179 RCV001014334
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)	SNV Germline	Chr9:95469012	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138470	rs_753002023	8 SubmittersRCV000513814 RCV000563327 RCV000764847 RCV001080435 RCV004547583
NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn)	SNV Germline	Chr9:95478117	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138708	rs_377546733	2 SubmittersRCV000233892 RCV002378972
NM_000264.5(PTCH1):c.1067+5G>C	SNV Germline	Chr9:95479964	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138779	rs_372657547	6 SubmittersRCV000230634 RCV000414676 RCV000492679 RCV001262187
NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser)	SNV Germline	Chr9:95480440	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138827	rs_745669231	2 SubmittersRCV000233022 RCV001018548
NM_000264.5(PTCH1):c.881G>A (p.Arg294His)	SNV Germline	Chr9:95480454	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582688	rs_878853859	2 SubmittersRCV000227329 RCV002372254
NM_000264.5(PTCH1):c.202-2A>G	SNV Germline	Chr9:95506601	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell nevus syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10582690	rs_878853849	4 SubmittersRCV000230457 RCV001014123 RCV002253306 RCV004808535
NM_016169.4(SUFU):c.6G>T (p.Ala2=)	SNV Germline	Chr10:102504158	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome not specified Medulloblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA5667573	rs_746555296	7 SubmittersRCV000230739 RCV000562975 RCV000609084 RCV001106673 RCV003422152
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)	SNV Germline	Chr10:102504321	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Medulloblastoma Condition: not provided Basal cell nevus syndrome 2 Joubert syndrome 32 Medulloblastoma Familial meningioma Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5667602	rs_377614167	7 SubmittersRCV000232777 RCV000573039 RCV001106675 RCV002264924 RCV005031820 RCV005600869
NM_016169.4(SUFU):c.183-4G>A	SNV Germline	Chr10:102509165	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome SUFU-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5667631	rs_766044613	5 SubmittersRCV000226395 RCV001294223 RCV001013328 RCV004547610 RCV003477833
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)	SNV Germline	Chr10:102592633	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667701	rs_142672533	5 SubmittersRCV000226982 RCV001023492 RCV003441816 RCV003463675
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)	SNV Germline	Chr10:102597222	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Medulloblastoma not specified Craniopharyngioma Hereditary cancer-predisposing syndrome Condition: not provided SUFU-related disorder	Criteria Provided Conflicting Classifications	CA5667781	rs_145704867	9 SubmittersRCV000233540 RCV000319465 RCV000508167 RCV000761145 RCV000569366 RCV001843499 RCV004547611
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)	SNV Germline	Chr10:102599537	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Joubert syndrome 32 Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667839	rs_773037813	6 SubmittersRCV000231709 RCV001169975 RCV001017004 RCV003237794 RCV003463673
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)	SNV Germline	Chr9:95468817	Conflicting classifications of pathogenicity	not specified Holoprosencephaly 7 Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138437	rs_201103723	5 SubmittersRCV000251671 RCV000310749 RCV000363171 RCV001014718 RCV003477864
NM_000264.5(PTCH1):c.*2276A>T	SNV Germline	Chr9:95444117	Conflicting classifications of pathogenicity	Holoprosencephaly 7 Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10627717	rs_868749157	2 SubmittersRCV000277093 RCV000325165 RCV003221962
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)	SNV Germline	Chr9:95449108	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10627742	rs_758229027	3 SubmittersRCV000273534 RCV000368124 RCV004943830
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His)	SNV Germline	Chr9:95469852	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138519	rs_199523893	6 SubmittersRCV000262784 RCV000315597 RCV001013252 RCV001549504
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)	SNV Germline	Chr9:95476109	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome PTCH1-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5138589	rs_766039170	6 SubmittersRCV000306639 RCV000406833 RCV001012599 RCV004549831 RCV005256604 RCV005434894
NM_016169.4(SUFU):c.910+14C>T	SNV Germline	Chr10:102597307	Conflicting classifications of pathogenicity	Medulloblastoma not specified Condition: not provided Medulloblastoma Gorlin syndrome SUFU-related disorder Meningioma	Criteria Provided Conflicting Classifications	CA5667802	rs_202247757	10 SubmittersRCV000371798 RCV000612172 RCV001579614 RCV002059517 RCV004549657 RCV005355624
NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=)	SNV Germline	Chr9:95447104	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137938	rs_761887390	4 SubmittersRCV000364449 RCV000270056 RCV000569682 RCV003422379
NM_016169.4(SUFU):c.756+10G>C	SNV Germline	Chr10:102594075	Conflicting classifications of pathogenicity	Medulloblastoma Medulloblastoma Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5667764	rs_764838079	2 SubmittersRCV000261878 RCV001408156
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)	SNV Germline	Chr9:95447223	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137972	rs_556901417	5 SubmittersRCV000263682 RCV000386162 RCV001021721 RCV003237834
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)	SNV Germline	Chr9:95467216	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly sequence Hereditary cancer-predisposing syndrome PTCH1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5138400	rs_766227557	5 SubmittersRCV000338756 RCV000392544 RCV001015611 RCV004549829 RCV004586695
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)	SNV Germline	Chr9:95479095	Conflicting classifications of pathogenicity	Holoprosencephaly 7 Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138756	rs_144323077	3 SubmittersRCV000294710 RCV000351965 RCV002436225
NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)	SNV Germline	Chr9:95479987	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138783	rs_779294007	4 SubmittersRCV000297800 RCV000355034 RCV001017122
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)	SNV Germline	Chr9:95508316	Conflicting classifications of pathogenicity	Holoprosencephaly 7 Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10634607	rs_1057515721	4 SubmittersRCV000269791 RCV000327144 RCV004725196 RCV002328894
NM_016169.4(SUFU):c.528C>T (p.His176=)	SNV Germline	Chr10:102592655	Conflicting classifications of pathogenicity	Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Medulloblastoma Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5667703	rs_150569584	6 SubmittersRCV000359058 RCV000567224 RCV000838398 RCV001086076
NM_000264.5(PTCH1):c.1504-1G>C	SNV Germline	Chr9:95476858	Pathogenic/Likely pathogenic	Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042793	rs_1057518400	2 SubmittersRCV000412941 RCV001850994
NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)	SNV Germline	Chr9:95447324	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16605764	rs_1057524645	3 SubmittersRCV000434505 RCV001059667 RCV002356625
NM_000264.5(PTCH1):c.3449+11G>A	SNV Germline	Chr9:95453467	Conflicting classifications of pathogenicity	not specified Holoprosencephaly 7 Gorlin syndrome Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5138152	rs_568528640	4 SubmittersRCV000420148 RCV001166789 RCV001166790 RCV005235291
NM_000264.5(PTCH1):c.1215+14C>T	SNV Germline	Chr9:95478986	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5138747	rs_367857273	4 SubmittersRCV000434026 RCV001168690 RCV001168689
NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr)	SNV Germline	Chr9:95449251	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16605915	rs_945517672	5 SubmittersRCV000422027 RCV000685775 RCV001020745 RCV004999383
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)	SNV Germline	Chr9:95467239	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5138403	rs_45579032	7 SubmittersRCV000432257 RCV001015533 RCV003237841 RCV000552853 RCV005600905
NM_000264.5(PTCH1):c.585-1G>C	SNV Germline	Chr9:95482204	Pathogenic	Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16605923	rs_1057520590	2 SubmittersRCV000442382 RCV000558322
NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys)	SNV Germline	Chr1:44826682	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 PTCH2-related disorder not specified	Criteria Provided Conflicting Classifications	CA822887	rs_199998309	4 SubmittersRCV000459110 RCV003316611 RCV004551556 RCV004022972
NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu)	SNV Germline	Chr9:95447210	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137968	rs_773298544	3 SubmittersRCV000463140 RCV002323724 RCV003477968
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His)	SNV Germline	Chr9:95447312	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137995	rs_357564	3 SubmittersRCV000466958 RCV002374779 RCV004721373
NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser)	SNV Germline	Chr9:95449125	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16612650	rs_1060502265	3 SubmittersRCV000464445 RCV001021032 RCV003470453
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala)	SNV Germline	Chr9:95449130	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16612654	rs_375857496	2 SubmittersRCV000473413 RCV002348315
NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val)	SNV Germline	Chr9:95453605	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16612665	rs_866037881	2 SubmittersRCV000465324 RCV004022719
NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)	SNV Germline	Chr9:95458029	Pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome PTCH1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16612669	rs_1060502301	3 SubmittersRCV000492750 RCV000477420 RCV004551527
NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile)	SNV Germline	Chr9:95468899	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138447	rs_775235892	3 SubmittersRCV000475319 RCV001014444 RCV004767269
NM_000264.5(PTCH1):c.1602+1G>T	SNV Germline	Chr9:95476758	Pathogenic	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16612681	rs_1060502277	2 SubmittersRCV000459384 RCV005049559
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)	SNV Germline	Chr9:95477630	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138656	rs_766898310	4 SubmittersRCV000472706 RCV002393129 RCV003317219 RCV004551526
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr)	SNV Germline	Chr9:95477699	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5138668	rs_142791675	3 SubmittersRCV000468805 RCV001011035 RCV002481434
NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu)	SNV Germline	Chr9:95480439	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138826	rs_141939274	3 SubmittersRCV000477511 RCV001018572 RCV001539422
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)	SNV Germline	Chr9:95508181	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5139032	rs_150069331	7 SubmittersRCV000460523 RCV000764852 RCV001013303 RCV000733153
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)	SNV Germline	Chr9:95508222	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612692	rs_775408408	4 SubmittersRCV000472439 RCV001011398 RCV003329285
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)	SNV Germline	Chr10:102504217	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667586	rs_761240106	2 SubmittersRCV000474319 RCV002365622
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)	SNV Germline	Chr10:102617377	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Medulloblastoma Gorlin syndrome not specified SUFU-related disorder	Criteria Provided Conflicting Classifications	CA5667907	rs_144158469	6 SubmittersRCV000505895 RCV000573131 RCV001084319 RCV002475904 RCV004551543
NM_016169.4(SUFU):c.1429G>A (p.Val477Met)	SNV Germline	Chr10:102630129	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Basal cell nevus syndrome 2 Medulloblastoma Familial meningioma Joubert syndrome 32	Criteria Provided Conflicting Classifications	CA16612722	rs_1060501117	3 SubmittersRCV000457004 RCV001011538 RCV005027506
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)	SNV Germline	Chr10:102630145	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Medulloblastoma Condition: not provided Medulloblastoma Familial meningioma Basal cell nevus syndrome 2 Joubert syndrome 32	Criteria Provided Conflicting Classifications	CA5668006	rs_765358771	7 SubmittersRCV000462118 RCV000567793 RCV001105629 RCV003139675 RCV005398652
NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met)	SNV Germline	Chr9:95447175	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5137959	rs_753535745	3 SubmittersRCV000473480 RCV001021827 RCV005044681
NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp)	SNV Germline	Chr9:95447214	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137969	rs_766576144	2 SubmittersRCV000477533 RCV002323721
NM_000264.5(PTCH1):c.4041C>T (p.His1347=)	SNV Germline	Chr9:95447215	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612749	rs_774524114	3 SubmittersRCV000460898 RCV002323797 RCV003478030
NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)	SNV Germline	Chr9:95449130	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA16612752	rs_375857496	5 SubmittersRCV000460375 RCV001770343 RCV001021024 RCV003470454 RCV005398622
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)	SNV Germline	Chr9:95467368	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7	Criteria Provided Multiple Submitters No Conflicts	CA16612765	rs_766313615	4 SubmittersRCV000477338 RCV000492631 RCV001543501 RCV003389327
NM_000264.5(PTCH1):c.2123C>T (p.Thr708Ile)	SNV Germline	Chr9:95468878	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16612767	rs_1060502290	2 SubmittersRCV000471331 RCV001014529
NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter)	SNV Germline	Chr9:95469119	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA16612768	rs_1060502274	1 SubmittersRCV000470850
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile)	SNV Germline	Chr9:95469146	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA16612769	rs_1060502266	5 SubmittersRCV000456193 RCV001013354 RCV003463911 RCV005398621 RCV005434935
NM_000264.5(PTCH1):c.1068-2A>T	SNV Germline	Chr9:95479149	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA16612775	rs_1060502271	1 SubmittersRCV000461794
NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter)	SNV Germline	Chr9:95481987	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA16612778	rs_1060502287	1 SubmittersRCV000467813
NM_000264.5(PTCH1):c.217C>T (p.Arg73Trp)	SNV Germline	Chr9:95506584	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612786	rs_751511116	3 SubmittersRCV000456917 RCV000565327 RCV004760508
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)	SNV Germline	Chr10:102509261	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 Hereditary cancer-predisposing syndrome Gorlin syndrome Condition: not provided Familial meningioma Basal cell nevus syndrome 2 Medulloblastoma Familial meningioma Joubert syndrome 32	Criteria Provided Conflicting Classifications	CA5667641	rs_746322193	6 SubmittersRCV000476504 RCV000763640 RCV001016523 RCV001293037 RCV003105911 RCV004567970 RCV005027505
NM_000264.5(PTCH1):c.4030G>T (p.Ala1344Ser)	SNV Germline	Chr9:95447226	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137974	rs_765017975	2 SubmittersRCV000468861 RCV002356682
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)	SNV Germline	Chr10:102550064	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided SUFU-related disorder	Criteria Provided Conflicting Classifications	CA5667668	rs_34406289	8 SubmittersRCV000469368 RCV000561880 RCV001821319 RCV002056721 RCV004551542
NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg)	SNV Germline	Chr9:95449268	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612821	rs_374097441	3 SubmittersRCV000472402 RCV001020701 RCV004999461
NM_016169.4(SUFU):c.1023-3C>T	SNV Germline	Chr10:102615265	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667862	rs_550262133	3 SubmittersRCV000472764 RCV000988447 RCV001017042
NM_016169.4(SUFU):c.1023-2A>T	SNV Germline	Chr10:102615266	Likely pathogenic	Gorlin syndrome Medulloblastoma Joubert syndrome 32 Basal cell nevus syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA16612826	rs_1060501105	2 SubmittersRCV000472343 RCV003448312
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)	SNV Germline	Chr9:95453491	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Gorlin syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138155	rs_749542089	3 SubmittersRCV000459818 RCV001020304 RCV002481435
NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile)	SNV Germline	Chr9:95456284	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138190	rs_577110118	3 SubmittersRCV000462088 RCV001019770
NM_016169.4(SUFU):c.1158-10C>T	SNV Germline	Chr10:102617280	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA16612829	rs_904045520	2 SubmittersRCV000457832 RCV002481491
NM_000264.5(PTCH1):c.3169-1G>A	SNV Germline	Chr9:95456414	Likely pathogenic	Gorlin syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16612830	rs_1060502285	2 SubmittersRCV000469522 RCV000598878
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)	SNV Germline	Chr9:95458176	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138272	rs_769924767	4 SubmittersRCV000469771 RCV000492158 RCV001269257 RCV004737531
NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter)	SNV Germline	Chr9:95458178	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA16612835	rs_1060502298	1 SubmittersRCV000461102
NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)	SNV Germline	Chr9:95458192	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138273	rs_774440323	4 SubmittersRCV000460986 RCV001017803
NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val)	SNV Germline	Chr9:95459726	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138329	rs_760174192	3 SubmittersRCV000463361 RCV002436433 RCV003477965
NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met)	SNV Germline	Chr9:95467343	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA5138410	rs_747762028	5 SubmittersRCV000461489 RCV001015214 RCV001169317 RCV003477966
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)	SNV Germline	Chr9:95468825	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138440	rs_758811078	4 SubmittersRCV000459847 RCV001166905 RCV000601883 RCV001014639
NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)	SNV Germline	Chr9:95476835	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16612860	rs_1060502268	3 SubmittersRCV000492336 RCV000477105
NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)	SNV Germline	Chr9:95477559	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16612861	rs_1060504538	3 SubmittersRCV000474147 RCV003542301 RCV003298529
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)	SNV Germline	Chr9:95479077	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16612867	rs_772903899	3 SubmittersRCV000472279 RCV000764848 RCV002323720
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu)	SNV Germline	Chr9:95479997	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16612869	rs_1060502279	3 SubmittersRCV000458347 RCV001017118 RCV004777673
NM_000264.5(PTCH1):c.777C>T (p.Phe259=)	SNV Germline	Chr9:95480558	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Condition: not provided	Criteria Provided Conflicting Classifications	CA5138841	rs_750313305	4 SubmittersRCV000475731 RCV001026803 RCV001166513 RCV004584723
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser)	SNV Germline	Chr9:95485806	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138935	rs_369105527	2 SubmittersRCV000467509 RCV001022827
NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)	SNV Germline	Chr9:95506472	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA16612877	rs_1060502284	5 SubmittersRCV000460060 RCV002259341 RCV002323723 RCV003463913
NM_000264.5(PTCH1):c.297C>T (p.Gly99=)	SNV Germline	Chr9:95506504	Pathogenic/Likely pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16612878	rs_772407797	2 SubmittersRCV000457591 RCV000492344
NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)	SNV Germline	Chr9:95447232	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Holoprosencephaly 7 PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5137979	rs_781539921	5 SubmittersRCV000470683 RCV000764838 RCV001021696 RCV001166213 RCV004551525
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)	SNV Germline	Chr9:95447303	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137993	rs_536440590	3 SubmittersRCV000469995 RCV002298599 RCV001021512
NM_000264.5(PTCH1):c.3805-4G>A	SNV Germline	Chr9:95447455	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA16612904	rs_1060504537	3 SubmittersRCV000474899 RCV002367599 RCV005431690
NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)	SNV Germline	Chr9:95449139	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138077	rs_767792734	4 SubmittersRCV000472214 RCV000764841 RCV001021000 RCV003441877
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met)	SNV Germline	Chr9:95449263	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138104	rs_370675945	3 SubmittersRCV000469976 RCV001020724 RCV003133273
NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter)	SNV Germline	Chr9:95458207	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA16612920	rs_1060502278	1 SubmittersRCV000461636
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)	SNV Germline	Chr10:102599514	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Medulloblastoma Familial meningioma Basal cell nevus syndrome 2 Medulloblastoma Familial meningioma Joubert syndrome 32	Criteria Provided Conflicting Classifications	CA5667830	rs_141359583	5 SubmittersRCV000463863 RCV000563167 RCV001103676 RCV003470410 RCV005027504
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)	SNV Germline	Chr10:102615272	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667863	rs_751728820	3 SubmittersRCV000456212 RCV001017023 RCV003463872
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg)	SNV Germline	Chr9:95468827	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA16612928	rs_963297092	4 SubmittersRCV000457358 RCV002429510 RCV005044684 RCV004787725
NM_000264.5(PTCH1):c.1628G>A (p.Arg543His)	SNV Germline	Chr9:95476134	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138595	rs_150284288	3 SubmittersRCV000459756 RCV002255395
NM_000264.5(PTCH1):c.1257G>A (p.Val419=)	SNV Germline	Chr9:95478145	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA16612937	rs_1060504535	3 SubmittersRCV000465554 RCV001010369 RCV005434951
NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)	SNV Germline	Chr9:95481954	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16612940	rs_1060502281	2 SubmittersRCV000471602 RCV000492338
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)	SNV Germline	Chr10:102504202	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Medulloblastoma Gorlin syndrome Medulloblastoma Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5667584	rs_12780580	8 SubmittersRCV000573813 RCV000475558 RCV001106674 RCV002291643 RCV002293445
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)	SNV Germline	Chr10:102550088	Pathogenic	Gorlin syndrome Medulloblastoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16612979	rs_1060501109	4 SubmittersRCV000460887 RCV000519054 RCV002329034
NM_016169.4(SUFU):c.600C>T (p.Ile200=)	SNV Germline	Chr10:102593638	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Medulloblastoma Medulloblastoma Gorlin syndrome Familial meningioma Familial meningioma Medulloblastoma Basal cell nevus syndrome 2 Joubert syndrome 32	Criteria Provided Conflicting Classifications	CA5667730	rs_149513330	16 SubmittersRCV000507081 RCV000568542 RCV000732323 RCV001108833 RCV001081771 RCV003316587 RCV005398653
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)	SNV Germline	Chr10:102597249	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667790	rs_149016373	4 SubmittersRCV000465818 RCV000566014 RCV001753876 RCV004567969
NM_016169.4(SUFU):c.911-7G>A	SNV Germline	Chr10:102599426	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA5667816	rs_558661774	5 SubmittersRCV000469308 RCV001529883 RCV002256252 RCV001821240
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)	SNV Germline	Chr10:102599447	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667817	rs_148160011	4 SubmittersRCV000458074 RCV001019093 RCV004591295 RCV003463871
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	SNV Germline	Chr10:102615303	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Gorlin syndrome Joubert syndrome 32 Condition: not provided Gorlin syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667865	rs_137880855	8 SubmittersRCV000464552 RCV001017160 RCV003483616 RCV002480368 RCV003333747 RCV003463873
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)	SNV Germline	Chr9:95459654	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16618903	rs_1064794260	6 SubmittersRCV000479378 RCV000492276 RCV001216304
NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)	SNV Germline	Chr9:95461858	Pathogenic	Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16618904	rs_1064796618	2 SubmittersRCV000480196 RCV001227735
NM_000264.5(PTCH1):c.1603-2A>G	SNV Germline	Chr9:95476161	Pathogenic/Likely pathogenic	Condition: not provided Gorlin syndrome PTCH1-related disorder Basal cell nevus syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16618908	rs_1064793921	4 SubmittersRCV000483991 RCV000543539 RCV004551583 RCV004594064
NM_000264.5(PTCH1):c.1348-2A>G	SNV Germline	Chr9:95477704	Pathogenic	Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16618909	rs_1064793978	2 SubmittersRCV000486543 RCV001385525
NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)	SNV Germline	Chr9:95482198	Pathogenic	Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16618913	rs_1064793922	2 SubmittersRCV000478704 RCV000551617
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)	SNV Germline	Chr9:95477547	Conflicting classifications of pathogenicity	Condition: not provided Gorlin syndrome	Criteria Provided Conflicting Classifications	CA466120228	rs_1085307511	2 SubmittersRCV000489836 RCV002528230
NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)	SNV Germline	Chr9:95449891	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374111537	rs_1131690985	2 SubmittersRCV000492431 RCV002523443
NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)	SNV Germline	Chr9:95453523	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA374111741	rs_1131690989	2 SubmittersRCV000492191 RCV001036728
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)	SNV Germline	Chr9:95453530	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA374111755	rs_1131690996	3 SubmittersRCV000492102 RCV001319080
NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)	SNV Germline	Chr9:95458154	Pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374112550	rs_747234651	2 SubmittersRCV000492224 RCV001387763
NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter)	SNV Germline	Chr9:95468811	Pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374115391	rs_1131690992	2 SubmittersRCV000492480 RCV001386362
NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly)	SNV Germline	Chr9:95469814	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16044079	rs_1131690983	2 SubmittersRCV002304207 RCV002413353
NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter)	SNV Germline	Chr9:95469856	Pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374116308	rs_863224650	2 SubmittersRCV000492414 RCV003502533
NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)	SNV Germline	Chr9:95477671	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374118622	rs_1131690974	2 SubmittersRCV001209294 RCV000492113
NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu)	SNV Germline	Chr9:95478094	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138705	rs_148471237	3 SubmittersRCV004772938 RCV000492565 RCV000548435
NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)	SNV Germline	Chr9:95485866	Pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374117333	rs_1131690986	3 SubmittersRCV000492613 RCV000687492 RCV000760320
NM_000264.5(PTCH1):c.394+1G>A	SNV Germline	Chr9:95506406	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374120125	rs_1131690995	3 SubmittersRCV000492083 RCV000578764 RCV001208405
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg)	SNV Germline	Chr9:95506484	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA374120289	rs_1131690998	2 SubmittersRCV000492650 RCV000703153
NM_000264.5(PTCH1):c.202-2A>C	SNV Germline	Chr9:95506601	Pathogenic/Likely pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374120777	rs_878853849	3 SubmittersRCV001380172 RCV000492766 RCV002475969
NM_000264.5(PTCH1):c.2561-1G>A	SNV Germline	Chr9:95461999	Pathogenic	Condition: not provided Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374113600	rs_1131691700	3 SubmittersRCV000493366 RCV003609154
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)	SNV Germline	Chr9:95508175	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374121269	rs_781768965	3 SubmittersRCV000493575 RCV002413356 RCV005091044
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu)	SNV Germline	Chr9:95447187	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1 Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA374110382	rs_757909121	4 SubmittersRCV000533630 RCV002323900 RCV004592545 RCV005049594
NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=)	SNV Germline	Chr9:95449204	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138085	rs_780515178	4 SubmittersRCV000529899 RCV000561091 RCV004553164
NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val)	SNV Germline	Chr9:95456374	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138211	rs_768302786	2 SubmittersRCV000531777 RCV004772951
NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys)	SNV Germline	Chr9:95458273	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374112811	rs_1201956507	2 SubmittersRCV000549591 RCV001016905
NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu)	SNV Germline	Chr9:95461925	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138358	rs_771732591	3 SubmittersRCV000556427 RCV000566149
NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter)	SNV Germline	Chr9:95461940	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374113458	rs_1554692291	1 SubmittersRCV000544181
NM_000264.5(PTCH1):c.2027A>G (p.Tyr676Cys)	SNV Germline	Chr9:95468974	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374115809	rs_1274998781	2 SubmittersRCV000559748 RCV002420330
NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr)	SNV Germline	Chr9:95477561	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA374118397	rs_1398130707	3 SubmittersRCV000529142 RCV002395269 RCV003478089
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met)	SNV Germline	Chr9:95477577	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138651	rs_768183391	2 SubmittersRCV000540664 RCV001011776
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe)	SNV Germline	Chr9:95506440	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374120200	rs_776424978	2 SubmittersRCV000532806 RCV002456027
NM_016169.4(SUFU):c.757-4G>T	SNV Germline	Chr10:102597136	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA658658013	rs_1554852773	2 SubmittersRCV000556003 RCV001026578
NM_016169.4(SUFU):c.1005C>T (p.Leu335=)	SNV Germline	Chr10:102599527	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5667833	rs_575246362	3 SubmittersRCV000536560 RCV002413425 RCV005000108
NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=)	SNV Germline	Chr9:95447056	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA466351318	rs_1554688167	3 SubmittersRCV000535240 RCV002329252 RCV005000107
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys)	SNV Germline	Chr9:95447244	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5137985	rs_374346190	4 SubmittersRCV000555828 RCV001021658 RCV005000106 RCV005231007
NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser)	SNV Germline	Chr9:95449251	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196566474	rs_945517672	2 SubmittersRCV000540835 RCV001020746
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met)	SNV Germline	Chr9:95453536	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA5138159	rs_566619057	4 SubmittersRCV000551653 RCV001020180 RCV003153669 RCV005000105
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)	SNV Germline	Chr9:95458245	Conflicting classifications of pathogenicity	Gorlin syndrome not specified Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138281	rs_758907408	4 SubmittersRCV000542578 RCV003488654 RCV004023661 RCV004777703
NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys)	SNV Germline	Chr9:95469089	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196586900	rs_1053507002	2 SubmittersRCV000545851 RCV002413423
NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn)	SNV Germline	Chr9:95469098	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138485	rs_372555269	4 SubmittersRCV000552271 RCV001013631 RCV003236807
NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu)	SNV Germline	Chr9:95480409	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138816	rs_762382517	2 SubmittersRCV000560764 RCV002376975
NM_000264.5(PTCH1):c.545C>T (p.Ala182Val)	SNV Germline	Chr9:95485724	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138926	rs_567721919	2 SubmittersRCV000556825 RCV002350162
NM_000264.5(PTCH1):c.413G>A (p.Arg138His)	SNV Germline	Chr9:95485856	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5138940	rs_763774051	4 SubmittersRCV000545328 RCV001021936 RCV004568692 RCV004820041
NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)	SNV Germline	Chr9:95506429	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138977	rs_763779667	2 SubmittersRCV000531263 RCV002350159
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp)	SNV Germline	Chr9:95508253	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5139049	rs_199976372	5 SubmittersRCV002448589 RCV001797745 RCV005000103 RCV000531311
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)	SNV Germline	Chr9:95446954	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5137901	rs_201357130	7 SubmittersRCV000526656 RCV000567943 RCV003237887 RCV005231008
NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe)	SNV Germline	Chr9:95447279	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137989	rs_764964224	2 SubmittersRCV000538812 RCV002323899
NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His)	SNV Germline	Chr9:95447300	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5137991	rs_572658914	3 SubmittersRCV000526107 RCV000567082 RCV004737601
NM_000264.5(PTCH1):c.3912G>T (p.Arg1304Ser)	SNV Germline	Chr9:95447344	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196558476	rs_757702954	2 SubmittersRCV000524899 RCV002358424
NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=)	SNV Germline	Chr9:95449069	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196566007	rs_951501624	2 SubmittersRCV000542951 RCV002367755
NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)	SNV Germline	Chr9:95449089	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196566069	rs_970679518	2 SubmittersRCV000560684 RCV001021128
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met)	SNV Germline	Chr9:95449187	Conflicting classifications of pathogenicity	Gorlin syndrome See cases Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138084	rs_781080456	3 SubmittersRCV000554810 RCV002252157 RCV002456028
NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)	SNV Germline	Chr9:95459748	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA466111908	rs_1305314328	3 SubmittersRCV000551079 RCV002438265 RCV004777702
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp)	SNV Germline	Chr9:95468829	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138441	rs_747274181	3 SubmittersRCV000524846 RCV002431502 RCV003470690
NM_000264.5(PTCH1):c.2015C>T (p.Thr672Met)	SNV Germline	Chr9:95468986	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138463	rs_372219420	4 SubmittersRCV000547194 RCV002256331 RCV005000104
NM_016169.4(SUFU):c.529A>G (p.Met177Val)	SNV Germline	Chr10:102592656	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Medulloblastoma not specified Condition: not provided Familial meningioma Joubert syndrome 32 Basal cell nevus syndrome 2 Medulloblastoma	Criteria Provided Conflicting Classifications	CA5667704	rs_758672583	7 SubmittersRCV000548377 RCV001023883 RCV001108832 RCV003151082 RCV003325488 RCV005027622
NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg)	SNV Germline	Chr9:95469823	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA196587573	rs_948568790	4 SubmittersRCV000527333 RCV001013308 RCV004592544
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met)	SNV Germline	Chr9:95478078	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA196593928	rs_759493890	3 SubmittersRCV000528982 RCV001011019 RCV005416363
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)	SNV Germline	Chr10:102615330	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667867	rs_755390277	3 SubmittersRCV000526543 RCV001017164 RCV003470693
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)	SNV Germline	Chr10:102617405	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5667912	rs_748099523	4 SubmittersRCV000552236 RCV001010686 RCV003441908
NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr)	SNV Germline	Chr9:95478168	Conflicting classifications of pathogenicity	Gorlin syndrome Germinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138714	rs_370354759	4 SubmittersRCV000531450 RCV000761046 RCV001010474 RCV004721410
NM_000264.5(PTCH1):c.1083G>A (p.Gln361=)	SNV Germline	Chr9:95479132	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA466122836	rs_1554699269	3 SubmittersRCV000554725 RCV001017230 RCV004722866
NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp)	SNV Germline	Chr9:95506435	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Basal cell nevus syndrome 1 Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA374120191	rs_1479871006	3 SubmittersRCV000546788 RCV004023662 RCV005044790
NM_000264.5(PTCH1):c.149T>C (p.Leu50Pro)	SNV Germline	Chr9:95508213	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA196555434	rs_1019888019	3 SubmittersRCV000546739 RCV001011913 RCV005231005
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)	SNV Germline	Chr10:102597263	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5667796	rs_143807689	6 SubmittersRCV000533501 RCV001018372 RCV001797095 RCV002231641
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)	SNV Germline	Chr10:102599528	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667834	rs_746448939	4 SubmittersRCV000549074 RCV001799674 RCV002420334
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)	SNV Germline	Chr9:95447243	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5137984	rs_771238114	4 SubmittersRCV000527574 RCV002358425 RCV004597815 RCV003459159
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys)	SNV Germline	Chr9:95447439	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138030	rs_749244396	2 SubmittersRCV000535950 RCV001021221
NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)	SNV Germline	Chr9:95453581	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 not specified	Criteria Provided Conflicting Classifications	CA5138165	rs_201605273	5 SubmittersRCV000558601 RCV002323898 RCV003459158 RCV004800444
NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala)	SNV Germline	Chr9:95456331	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374112062	rs_1463935039	2 SubmittersRCV000550609 RCV002323897
NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter)	SNV Germline	Chr9:95468939	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374115737	rs_1554695039	2 SubmittersRCV000535004 RCV002420332
NM_000264.5(PTCH1):c.876G>A (p.Met292Ile)	SNV Germline	Chr9:95480459	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138830	rs_776187586	2 SubmittersRCV000529527 RCV001018304
NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)	SNV Germline	Chr9:95485685	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374116546	rs_1554702009	2 SubmittersRCV000545639 RCV002358426
NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser)	SNV Germline	Chr9:95485818	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138937	rs_751024812	3 SubmittersRCV000554128 RCV002341240 RCV003236808
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)	SNV Germline	Chr10:102599513	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667829	rs_768170991	4 SubmittersRCV000537135 RCV001019891 RCV001584236 RCV003459161
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)	SNV Germline	Chr10:102630079	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma Gorlin syndrome Joubert syndrome 32 Medulloblastoma Gorlin syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5668000	rs_778125780	7 SubmittersRCV000545540 RCV000561960 RCV000763644 RCV001294222 RCV003139745 RCV003470694
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg)	SNV Germline	Chr9:95447312	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA374110618	rs_357564	2 SubmittersRCV000565121 RCV001224285
NM_000264.5(PTCH1):c.2177C>T (p.Pro726Leu)	SNV Germline	Chr9:95468824	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA374115435	rs_587780697	2 SubmittersRCV000563615 RCV001047492
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys)	SNV Germline	Chr9:95477662	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA5138662	rs_764195249	4 SubmittersRCV000567180 RCV001218528 RCV001553654 RCV003478294
NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile)	SNV Germline	Chr9:95478060	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138699	rs_537871675	3 SubmittersRCV000564480 RCV000628385
NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=)	SNV Germline	Chr9:95447122	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5137946	rs_775499386	4 SubmittersRCV000576053 RCV000628450 RCV001168388
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)	SNV Germline	Chr9:95449298	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138105	rs_762040036	4 SubmittersRCV000569176 RCV000764842 RCV000819357 RCV005429028
NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr)	SNV Germline	Chr9:95459690	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138323	rs_373120584	2 SubmittersRCV000568877 RCV000822888
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)	SNV Germline	Chr9:95461997	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138366	rs_751613059	3 SubmittersRCV000567392 RCV000934938 RCV003237942
NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr)	SNV Germline	Chr9:95476842	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138626	rs_745669155	2 SubmittersRCV000564332 RCV000688021
NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)	SNV Germline	Chr9:95485857	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Condition: not provided Ovarian cancer Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA5138941	rs_139535966	5 SubmittersRCV000567855 RCV000697497 RCV000764851 RCV002464261 RCV003153746 RCV005044857
NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr)	SNV Germline	Chr9:95506470	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138986	rs_777897973	2 SubmittersRCV000563183 RCV002530342
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys)	SNV Germline	Chr9:95506547	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5138995	rs_151310492	3 SubmittersRCV000575041 RCV000628361 RCV001591341
NM_000264.5(PTCH1):c.91G>A (p.Gly31Arg)	SNV Germline	Chr9:95508271	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome not specified	Criteria Provided Conflicting Classifications	CA5139053	rs_768512190	3 SubmittersRCV000575799 RCV000628426 RCV003321684
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)	SNV Germline	Chr10:102504219	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Condition: not provided	Criteria Provided Conflicting Classifications	CA5667587	rs_766666529	3 SubmittersRCV000574522 RCV000821320 RCV003325496
NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=)	SNV Germline	Chr9:95447001	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder not specified	Criteria Provided Conflicting Classifications	CA5137911	rs_139942632	4 SubmittersRCV001055553 RCV000568656 RCV004553287 RCV005418223
NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln)	SNV Germline	Chr9:95447075	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5137932	rs_748812637	2 SubmittersRCV000574713 RCV000692688
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp)	SNV Germline	Chr9:95449119	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138071	rs_780990429	2 SubmittersRCV000563856 RCV000816911
NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr)	SNV Germline	Chr9:95458051	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138250	rs_138458710	3 SubmittersRCV000573885 RCV000797992 RCV004721458
NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)	SNV Germline	Chr9:95469056	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138478	rs_375049109	3 SubmittersRCV000568417 RCV000701978 RCV004592776
NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)	SNV Germline	Chr9:95478078	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138701	rs_759493890	3 SubmittersRCV000564856 RCV001222454 RCV003465272
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile)	SNV Germline	Chr9:95478155	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138713	rs_201174718	3 SubmittersRCV000572981 RCV000628345 RCV004760621
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn)	SNV Germline	Chr9:95480557	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138840	rs_765174527	2 SubmittersRCV000560942 RCV001221037
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)	SNV Germline	Chr9:95508288	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5139057	rs_774712511	3 SubmittersRCV000564085 RCV000821615 RCV001168742
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)	SNV Germline	Chr10:102617364	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Familial meningioma Joubert syndrome 32 Gorlin syndrome Medulloblastoma Familial meningioma Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5667904	rs_368020224	6 SubmittersRCV000568227 RCV000763643 RCV000705071 RCV003459402 RCV004783816 RCV005231110
NM_000264.5(PTCH1):c.101G>A (p.Arg34Lys)	SNV Germline	Chr9:95508261	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5139050	rs_771847879	3 SubmittersRCV000590878 RCV002367995
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)	SNV Germline	Chr9:95447236	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Gorlin syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5137982	rs_773564643	4 SubmittersRCV000593828 RCV001021684 RCV001078501 RCV004553341
NM_000264.5(PTCH1):c.125C>G (p.Ala42Gly)	SNV Germline	Chr9:95508237	Conflicting classifications of pathogenicity	not specified Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196555548	rs_1030446889	3 SubmittersRCV000613176 RCV000802616 RCV001010621
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)	SNV Germline	Chr9:95458074	Pathogenic	Inborn genetic diseases Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374112378	rs_1554691359	2 SubmittersRCV000622424 RCV005091804
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)	SNV Germline	Chr9:95476782	Pathogenic	Inborn genetic diseases Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374118196	rs_1554698260	3 SubmittersRCV000622493 RCV000988234
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)	SNV Germline	Chr9:95506567	Pathogenic	Inborn genetic diseases Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374120644	rs_1554708787	2 SubmittersRCV000622946 RCV001855303
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)	SNV Germline	Chr9:95478080	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138702	rs_767273237	4 SubmittersRCV000626073 RCV004588003 RCV002385962
NM_003738.5(PTCH2):c.1598T>C (p.Ile533Thr)	SNV Germline	Chr1:44828407	Conflicting classifications of pathogenicity	Gorlin syndrome not specified	Criteria Provided Conflicting Classifications	CA823229	rs_61751010	2 SubmittersRCV000628331 RCV004025315
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)	SNV Germline	Chr1:44832296	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA823670	rs_80168454	3 SubmittersRCV000628473 RCV005392190
NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)	SNV Germline	Chr9:95446916	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA196557219	rs_972576439	4 SubmittersRCV000628353 RCV001022324 RCV003465380 RCV004737904
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)	SNV Germline	Chr9:95447348	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138011	rs_779365332	3 SubmittersRCV000628381 RCV000764840 RCV002358748
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile)	SNV Germline	Chr9:95456290	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138191	rs_748726158	6 SubmittersRCV000628342 RCV001019715 RCV003153766 RCV003153767 RCV004737901
NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu)	SNV Germline	Chr9:95458290	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138288	rs_377120922	2 SubmittersRCV000628391 RCV002438623
NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile)	SNV Germline	Chr9:95459693	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138325	rs_376084632	3 SubmittersRCV000628350 RCV002438620 RCV004722990
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His)	SNV Germline	Chr9:95468956	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA374115772	rs_1366288601	3 SubmittersRCV000628369 RCV002420663 RCV003129947
NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn)	SNV Germline	Chr9:95468996	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138465	rs_772574714	2 SubmittersRCV000628371 RCV002420664
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn)	SNV Germline	Chr9:95469107	Conflicting classifications of pathogenicity	Gorlin syndrome not specified Hereditary cancer-predisposing syndrome Basal cell nevus syndrome 1 Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138488	rs_559293815	4 SubmittersRCV000628395 RCV001199897 RCV001013602 RCV005392189
NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)	SNV Germline	Chr9:95479006	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374119216	rs_1432645175	2 SubmittersRCV000628408 RCV002358749
NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)	SNV Germline	Chr9:95480430	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA374113770	rs_1487227339	3 SubmittersRCV000628415 RCV001018732 RCV003459483
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)	SNV Germline	Chr10:102597258	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667793	rs_193921097	2 SubmittersRCV000628495 RCV002377337
NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu)	SNV Germline	Chr9:95447336	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell nevus syndrome 1 Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5138005	rs_181585555	3 SubmittersRCV000628389 RCV001021443 RCV005044911
NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn)	SNV Germline	Chr9:95458173	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138270	rs_769866360	3 SubmittersRCV000628372 RCV004773046 RCV002438622
NM_000264.5(PTCH1):c.1218G>A (p.Val406=)	SNV Germline	Chr9:95478184	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138718	rs_753586235	4 SubmittersRCV000628464 RCV001010381 RCV002464273
NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter)	SNV Germline	Chr9:95480568	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374114539	rs_1554700010	1 SubmittersRCV000628399
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)	SNV Germline	Chr9:95482006	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA374114915	rs_1554700630	4 SubmittersRCV000628428 RCV001025771 RCV002464272
NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)	SNV Germline	Chr9:95485770	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138932	rs_149547604	3 SubmittersRCV000628337 RCV001023385
NM_000264.5(PTCH1):c.68C>T (p.Ala23Val)	SNV Germline/somatic	Chr9:95508294	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified Lung adenocarcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA5139062	rs_761204245	6 SubmittersRCV000628480 RCV002258974 RCV005056355 RCV003128669 RCV004588053
NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val)	SNV Germline	Chr9:95449861	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138124	rs_772200521	2 SubmittersRCV000628362 RCV002457970
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)	SNV Germline	Chr9:95458115	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA5138260	rs_755755175	3 SubmittersRCV000628432 RCV001018405 RCV001169240
NM_016169.4(SUFU):c.682A>G (p.Ile228Val)	SNV Germline	Chr10:102593720	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA212266200	rs_555976050	3 SubmittersRCV000628515 RCV001025695 RCV004777774
NM_016169.4(SUFU):c.894G>T (p.Arg298=)	SNV Germline	Chr10:102597277	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667799	rs_372636246	3 SubmittersRCV001425629 RCV002257864
NM_000264.5(PTCH1):c.2704-3T>C	SNV Germline	Chr9:95459786	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA589581190	rs_1208489068	2 SubmittersRCV000628370 RCV001016359
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys)	SNV Germline	Chr9:95469850	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138517	rs_778627715	4 SubmittersRCV000628418 RCV002413786 RCV002507054 RCV004584775
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile)	SNV Germline	Chr9:95479973	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138781	rs_555332902	3 SubmittersRCV000628405 RCV002413785 RCV005431818
NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)	SNV Germline	Chr9:95480434	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5138823	rs_767601899	6 SubmittersRCV000628378 RCV000764850 RCV001018662 RCV003441975 RCV005056354
NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter)	SNV Germline	Chr9:95485836	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374117210	rs_1554702186	1 SubmittersRCV000628382
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)	SNV Germline	Chr9:95506554	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374120553	rs_1263611523	3 SubmittersRCV000628417 RCV001168740 RCV001015642
NM_016169.4(SUFU):c.703A>G (p.Ile235Val)	SNV Germline	Chr10:102594012	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5667758	rs_144666812	3 SubmittersRCV000628494 RCV001025956 RCV004773047
NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln)	SNV Germline	Chr9:95447215	Conflicting classifications of pathogenicity	Gorlin syndrome PTCH1-related disorder Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137970	rs_774524114	6 SubmittersRCV000628366 RCV004737905 RCV001021737 RCV003478334
NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)	SNV Germline	Chr9:95449230	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374111239	rs_1554689404	2 SubmittersRCV000628356 RCV004025317
NM_000264.5(PTCH1):c.2561-2A>G	SNV Germline	Chr9:95462000	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374113601	rs_878853852	1 SubmittersRCV000628343
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)	SNV Germline	Chr9:95467179	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138395	rs_771222407	5 SubmittersRCV000628354 RCV002431839 RCV003478333 RCV002492930
NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)	SNV Germline	Chr9:95467348	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA196585882	rs_923429610	3 SubmittersRCV001015200 RCV000628375 RCV003459482
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)	SNV Germline	Chr9:95467389	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138418	rs_544963328	5 SubmittersRCV000628339 RCV000764846 RCV001015070 RCV003424195
NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln)	SNV Germline	Chr9:95469076	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA5138481	rs_762371629	3 SubmittersRCV000628392 RCV003380642 RCV005601049
NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)	SNV Germline	Chr9:95476815	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA374118270	rs_1554698288	5 SubmittersRCV000628430 RCV002404714 RCV002477370 RCV003459484 RCV004760658
NM_000264.5(PTCH1):c.1347+6G>A	SNV Germline	Chr9:95478049	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA196593864	rs_372655486	5 SubmittersRCV000628347 RCV004702211 RCV002248833 RCV002385965 RCV004737903
NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val)	SNV Germline	Chr9:95478084	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138703	rs_752530755	3 SubmittersRCV000628380 RCV001010959 RCV003238788
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His)	SNV Germline	Chr9:95479008	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374119223	rs_1349048226	2 SubmittersRCV000628346 RCV001010309
NM_000264.5(PTCH1):c.955A>G (p.Met319Val)	SNV Germline	Chr9:95480081	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA374119806	rs_1438545679	3 SubmittersRCV000628329 RCV001019483 RCV004760657
NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)	SNV Germline	Chr9:95485821	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374117142	rs_1344258746	2 SubmittersRCV000628407 RCV002331101
NM_000264.5(PTCH1):c.63C>T (p.Ile21=)	SNV Germline	Chr9:95508299	Conflicting classifications of pathogenicity	Gorlin syndrome Holoprosencephaly 7 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA466107874	rs_1284183739	3 SubmittersRCV000628448 RCV001168743 RCV003162776
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)	SNV Germline	Chr10:102504178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Medulloblastoma Gorlin syndrome Familial meningioma Condition: not provided Familial meningioma Basal cell nevus syndrome 2 Medulloblastoma Joubert syndrome 32	Criteria Provided Conflicting Classifications	CA377886134	rs_775491374	5 SubmittersRCV001016349 RCV000628510 RCV003459485 RCV003237957 RCV005027739
NM_016169.4(SUFU):c.183-1G>A	SNV Germline	Chr10:102509168	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA377888078	rs_1554841447	2 SubmittersRCV000628498 RCV004948478
NM_000264.5(PTCH1):c.1216-1G>A	SNV Germline	Chr9:95478187	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Gorlin syndrome Gorlin syndrome Holoprosencephaly 7	Criteria Provided Multiple Submitters No Conflicts	CA374119021	rs_1564051834	3 SubmittersRCV001010334 RCV000680079 RCV001830477
NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)	SNV Germline	Chr9:95447118	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Condition: not provided Hereditary cancer not specified	Criteria Provided Conflicting Classifications	CA5137945	rs_111481152	6 SubmittersRCV000699784 RCV001021931 RCV000766069 RCV003478431 RCV005231290 RCV005436022
NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro)	SNV Germline	Chr9:95449157	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138080	rs_758728491	2 SubmittersRCV000694113 RCV002343481
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys)	SNV Germline	Chr9:95461882	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138355	rs_753008328	3 SubmittersRCV000685754 RCV001016285 RCV004547853
NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter)	SNV Germline	Chr9:95467161	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374113843	rs_1564030530	1 SubmittersRCV000688465
NM_000264.5(PTCH1):c.1602+1G>A	SNV Germline	Chr9:95476758	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374118141	rs_1060502277	1 SubmittersRCV000695355
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr)	SNV Germline	Chr9:95476769	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374118165	rs_1227526379	2 SubmittersRCV000702109 RCV002397457
NM_000264.5(PTCH1):c.468A>C (p.Gln156His)	SNV Germline	Chr9:95485801	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374117055	rs_200729445	2 SubmittersRCV000685329 RCV002331322
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)	SNV Germline	Chr10:102504327	Pathogenic	Medulloblastoma Gorlin syndrome	Criteria Provided Single Submitter	CA377886765	rs_1564654588	1 SubmittersRCV000705859
NM_016169.4(SUFU):c.454+1G>A	SNV Germline	Chr10:102550107	Pathogenic	Medulloblastoma Gorlin syndrome	Criteria Provided Single Submitter	CA377903758	rs_1564676479	1 SubmittersRCV000692365
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)	SNV Germline	Chr10:102597221	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667780	rs_761003435	4 SubmittersRCV000696738 RCV002440485 RCV003153812 RCV003460949
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu)	SNV Germline	Chr9:95447105	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137939	rs_146447673	3 SubmittersRCV000689524 RCV001021957
NM_000264.5(PTCH1):c.4094G>A (p.Cys1365Tyr)	SNV Germline	Chr9:95447162	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374110329	rs_1397510746	2 SubmittersRCV000690513 RCV002325374
NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)	SNV Germline	Chr9:95447207	Conflicting classifications of pathogenicity	Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7 Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA196558088	rs_978722722	6 SubmittersRCV000764836 RCV000699814 RCV001021745 RCV004547867 RCV004569359 RCV004997191
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)	SNV Germline	Chr9:95449308	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5138108	rs_767535853	4 SubmittersRCV000687148 RCV001020625 RCV003459669 RCV004768558
NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile)	SNV Germline	Chr9:95449900	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Cataract Disproportionate tall stature Abnormal cardiovascular system morphology	Criteria Provided Conflicting Classifications	CA5138127	rs_371346118	3 SubmittersRCV000697269 RCV001020429 RCV002245603
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe)	SNV Germline	Chr9:95458135	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138262	rs_374575067	2 SubmittersRCV000705943 RCV003303192
NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu)	SNV Germline	Chr9:95468871	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138446	rs_774362306	3 SubmittersRCV000703655 RCV002422586 RCV003478438
NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)	SNV Germline	Chr9:95480397	Pathogenic	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA374113623	rs_1564055259	2 SubmittersRCV000698999 RCV001196669
NM_000264.5(PTCH1):c.560G>A (p.Arg187His)	SNV Germline	Chr9:95485709	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138923	rs_138034434	4 SubmittersRCV000705261 RCV000732073 RCV002257949
NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys)	SNV Germline	Chr9:95506506	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196553325	rs_1036074195	2 SubmittersRCV000707441 RCV002440554
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)	SNV Germline	Chr9:95447198	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5137966	rs_777096311	3 SubmittersRCV000689113 RCV001021767 RCV003459676
NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)	SNV Germline	Chr9:95447323	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137998	rs_761688859	2 SubmittersRCV000692022 RCV003303132
NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)	SNV Germline	Chr9:95449266	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA374111308	rs_1564008885	4 SubmittersRCV000691991 RCV001020708 RCV005046937
NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala)	SNV Germline	Chr9:95456289	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA374111977	rs_1291842090	3 SubmittersRCV000690691 RCV002325376 RCV001356294
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu)	SNV Germline	Chr9:95469137	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome See cases Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138490	rs_765258547	6 SubmittersRCV001013443 RCV000685218 RCV002252215 RCV003231576 RCV004547851
NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)	SNV Germline	Chr9:95485690	Pathogenic	Gorlin syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374116569	rs_1333346461	2 SubmittersRCV000701045
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)	SNV Germline	Chr9:95485838	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA374117217	rs_1316474105	4 SubmittersRCV000698113 RCV001022287 RCV004737960
NM_000264.5(PTCH1):c.110G>A (p.Gly37Glu)	SNV Germline	Chr9:95508252	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5139047	rs_748780206	2 SubmittersRCV002458197 RCV000685634
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)	SNV Germline	Chr10:102597207	Pathogenic	Medulloblastoma Gorlin syndrome	Criteria Provided Single Submitter	CA377910484	rs_1564698683	1 SubmittersRCV000701195
NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys)	SNV Germline	Chr9:95447203	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374110410	rs_1564005341	2 SubmittersRCV000686744 RCV004659163
NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu)	SNV Germline	Chr9:95458032	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374112284	rs_1420175816	2 SubmittersRCV000694954 RCV001018810
NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter)	SNV Germline	Chr9:95459685	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374113048	rs_1356231878	1 SubmittersRCV000706911
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met)	SNV Germline	Chr9:95469040	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138476	rs_746898855	3 SubmittersRCV000698032 RCV001013861 RCV003465602
NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr)	SNV Germline	Chr9:95469047	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196586878	rs_1035631674	2 SubmittersRCV000703670 RCV004026635
NM_000264.5(PTCH1):c.1903G>T (p.Asp635Tyr)	SNV Germline	Chr9:95469098	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138484	rs_372555269	2 SubmittersRCV000695837 RCV001013633
NM_000264.5(PTCH1):c.1068C>T (p.Ser356=)	SNV Germline	Chr9:95479147	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA196595042	rs_1051875027	3 SubmittersRCV000704390 RCV001017180 RCV005626167
NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter)	SNV Germline	Chr9:95480462	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374113925	rs_1564055606	1 SubmittersRCV000705881
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu)	SNV Germline	Chr9:95508291	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA5139059	rs_767973616	3 SubmittersRCV000690903 RCV002369856 RCV002469261
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)	SNV Germline	Chr10:102594037	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome Medulloblastoma Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667761	rs_544734275	4 SubmittersRCV001026231 RCV000690225 RCV004760709 RCV003459681
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)	SNV Germline	Chr10:102597231	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667784	rs_763598499	3 SubmittersRCV000706362 RCV001017888 RCV004569390
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)	SNV Germline	Chr10:102627203	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667982	rs_772598739	2 SubmittersRCV000685264 RCV002386159
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)	SNV Germline	Chr10:102627225	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA377918835	rs_1564711403	2 SubmittersRCV000707192 RCV002386277
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)	SNV Germline	Chr9:95468942	Conflicting classifications of pathogenicity	Acute myeloid leukemia Hereditary cancer-predisposing syndrome Holoprosencephaly 7 not specified Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138457	rs_374691153	5 SubmittersRCV000761130 RCV001014267 RCV001168619 RCV001800865 RCV000805523
NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)	SNV Germline	Chr9:95506598	Conflicting classifications of pathogenicity	Craniopharyngioma Gorlin syndrome Hereditary cancer-predisposing syndrome Gorlin syndrome Holoprosencephaly 7 Basal cell carcinoma, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA5139001	rs_757430199	6 SubmittersRCV000761035 RCV001053046 RCV001014182 RCV002500986 RCV004997268
NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)	SNV Germline	Chr9:95508307	Conflicting classifications of pathogenicity	Neuroblastoma Hereditary cancer-predisposing syndrome Condition: not provided Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5139065	rs_778460384	5 SubmittersRCV000761070 RCV002255517 RCV000828033 RCV001202675
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)	SNV Germline	Chr10:102627187	Conflicting classifications of pathogenicity	B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667979	rs_766370528	4 SubmittersRCV000761042 RCV001855935 RCV004027177 RCV003461019
NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn)	SNV Germline	Chr9:95446922	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137896	rs_770268061	2 SubmittersRCV000823266 RCV001022312
NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val)	SNV Germline	Chr9:95446968	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA196557368	rs_1043260017	4 SubmittersRCV000802305 RCV001022213 RCV004549877 RCV004997347
NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn)	SNV Germline	Chr9:95447007	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5137913	rs_776235476	3 SubmittersRCV000809595 RCV001022129 RCV005411578
NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)	SNV Germline	Chr9:95447169	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5137956	rs_767625820	3 SubmittersRCV000809865 RCV002255167
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)	SNV Germline	Chr9:95447307	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374110610	rs_1482005246	2 SubmittersRCV000800138 RCV001021497
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu)	SNV Germline	Chr9:95447315	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Ovarian cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA374110621	rs_1400282737	4 SubmittersRCV000798946 RCV002352343 RCV003153839 RCV004997338
NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)	SNV Germline	Chr9:95447327	Conflicting classifications of pathogenicity	Gorlin syndrome Pituitary stalk interruption syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Gorlin syndrome Holoprosencephaly 7	Criteria Provided Conflicting Classifications	CA374110646	rs_773043616	7 SubmittersRCV000817077 RCV001257287 RCV003317381 RCV002372312 RCV002507429
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg)	SNV Germline	Chr9:95447336	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138006	rs_181585555	3 SubmittersRCV000795914 RCV002325515 RCV003133610
NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=)	SNV Germline	Chr9:95447440	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA466351859	rs_369295226	3 SubmittersRCV000792438 RCV002360912 RCV003478488
NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)	SNV Germline	Chr9:95447442	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA374110867	rs_1298467711	2 SubmittersRCV002352307 RCV000791841
NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg)	SNV Germline	Chr9:95449115	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138069	rs_146390067	3 SubmittersRCV000811027 RCV001021062 RCV003478512
NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp)	SNV Germline	Chr9:95449136	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138076	rs_374011978	2 SubmittersRCV000798233 RCV002345768
NM_000264.5(PTCH1):c.3668C>T (p.Ser1223Leu)	SNV Germline	Chr9:95449205	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138086	rs_769287098	2 SubmittersRCV000814539 RCV002453847
NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)	SNV Germline	Chr9:95449299	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA5138106	rs_571420165	6 SubmittersRCV000811534 RCV001759567 RCV002256535 RCV003467453
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser)	SNV Germline	Chr9:95449308	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome not specified PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138109	rs_767535853	4 SubmittersRCV000804350 RCV001020624 RCV003321745 RCV004738017
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)	SNV Germline	Chr9:95453532	Pathogenic/Likely pathogenic	Gorlin syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA374111756	rs_1588528503	3 SubmittersRCV000800312 RCV001815437
NM_000264.5(PTCH1):c.3220A>G (p.Ile1074Val)	SNV Germline	Chr9:95456362	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138207	rs_745626835	2 SubmittersRCV000811217 RCV002442714
NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu)	SNV Germline	Chr9:95458117	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374112463	rs_1003711941	2 SubmittersRCV000793575 RCV001018401
NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter)	SNV Germline	Chr9:95458216	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374112684	rs_1472299295	1 SubmittersRCV000809211
NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys)	SNV Germline	Chr9:95458216	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374112686	rs_1472299295	2 SubmittersRCV000811432 RCV002440755
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser)	SNV Germline	Chr9:95458243	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138280	rs_778337760	2 SubmittersRCV000803696 RCV002440699
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile)	SNV Germline	Chr9:95459611	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138310	rs_776378611	2 SubmittersRCV000811060 RCV004944195
NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln)	SNV Germline	Chr9:95459648	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138317	rs_768039033	2 SubmittersRCV000824169 RCV001016577
NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu)	SNV Germline	Chr9:95459675	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138321	rs_778810550	3 SubmittersRCV000791981 RCV004997313 RCV004944141
NM_000264.5(PTCH1):c.2717G>A (p.Arg906His)	SNV Germline	Chr9:95459770	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138333	rs_764310195	2 SubmittersRCV000799772 RCV002424843
NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr)	SNV Germline	Chr9:95467148	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138393	rs_145217620	3 SubmittersRCV002477797 RCV001015843 RCV000791676
NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr)	SNV Germline	Chr9:95467163	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1	Criteria Provided Conflicting Classifications	CA374113854	rs_1220749812	3 SubmittersRCV000796436 RCV001015739 RCV004569542
NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter)	SNV Germline	Chr9:95467173	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374113897	rs_1588568595	1 SubmittersRCV000812907
NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)	SNV Germline	Chr9:95467348	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374114587	rs_923429610	2 SubmittersRCV000795832 RCV001015201
NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln)	SNV Germline	Chr9:95467367	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gorlin syndrome	Criteria Provided Conflicting Classifications	CA5138414	rs_762942660	2 SubmittersRCV001015157 RCV000791507
NM_000264.5(PTCH1):c.2177C>A (p.Pro726His)	SNV Germline	Chr9:95468824	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138439	rs_587780697	3 SubmittersRCV000795149 RCV002424815 RCV004760794
NM_000264.5(PTCH1):c.1999G>T (p.Glu667Ter)	SNV Germline	Chr9:95469002	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374115873	rs_1588574943	1 SubmittersRCV000824490
NM_000264.5(PTCH1):c.1900C>A (p.His634Asn)	SNV Germline	Chr9:95469101	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374116086	rs_764218645	2 SubmittersRCV000807665 RCV002406804
NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln)	SNV Germline	Chr9:95469855	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA374116307	rs_1382474804	3 SubmittersRCV000807208 RCV002406800 RCV004549882
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile)	SNV Germline	Chr9:95469925	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138523	rs_751708515	4 SubmittersRCV000816553 RCV001012947 RCV003424359 RCV004549895
NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp)	SNV Germline	Chr9:95476056	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374117915	rs_766973191	1 SubmittersRCV000793246
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met)	SNV Germline	Chr9:95476120	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome PTCH1-related disorder	Criteria Provided Conflicting Classifications	CA5138592	rs_575035810	5 SubmittersRCV000797082 RCV003442080 RCV001012545 RCV004549874
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg)	SNV Germline	Chr9:95476137	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138599	rs_758673714	2 SubmittersRCV000798365 RCV003380721
NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)	SNV Germline	Chr9:95476793	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138620	rs_751778283	2 SubmittersRCV000802944 RCV001012174
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)	SNV Germline	Chr9:95476800	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138622	rs_781101191	3 SubmittersRCV000816206 RCV001012191
NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg)	SNV Germline	Chr9:95476830	Likely pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374118302	rs_1588598613	1 SubmittersRCV000824437
NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln)	SNV Germline	Chr9:95476850	Likely pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374118341	rs_1588598694	1 SubmittersRCV000797664
NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter)	SNV Germline	Chr9:95478177	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374118982	rs_1588603014	1 SubmittersRCV000813202
NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)	SNV Germline	Chr9:95479017	Pathogenic	Gorlin syndrome Basal cell nevus syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374119242	rs_1588605348	4 SubmittersRCV000810777 RCV004796321 RCV004944193
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr)	SNV Germline	Chr9:95479023	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196594873	rs_937023804	2 SubmittersRCV000795548 RCV001010167
NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter)	SNV Germline	Chr9:95479054	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374119326	rs_1588605485	1 SubmittersRCV000798895
NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn)	SNV Germline	Chr9:95479969	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5138780	rs_764579762	3 SubmittersRCV000815413 RCV001017178 RCV003478517
NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter)	SNV Germline	Chr9:95480034	Pathogenic	Gorlin syndrome	Criteria Provided Single Submitter	CA374119698	rs_145867500	1 SubmittersRCV000799834
NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe)	SNV Germline	Chr9:95481967	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5138870	rs_141265422	2 SubmittersRCV000794118 RCV001026233
NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)	SNV Germline	Chr9:95506518	Pathogenic	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA374120362	rs_1587693508	2 SubmittersRCV000820806 RCV001016748
NM_000264.5(PTCH1):c.155G>A (p.Arg52Gln)	SNV Germline	Chr9:95508207	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5139034	rs_777207639	3 SubmittersRCV000807803 RCV002397653 RCV004723219
NM_000264.5(PTCH1):c.136G>C (p.Asp46His)	SNV Germline	Chr9:95508226	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5139039	rs_760670294	3 SubmittersRCV000814674 RCV002381820 RCV004773189
NM_000264.5(PTCH1):c.112G>A (p.Gly38Arg)	SNV Germline	Chr9:95508250	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA196555628	rs_45574039	2 SubmittersRCV000805151 RCV005260413
NM_000264.5(PTCH1):c.77G>T (p.Arg26Leu)	SNV Germline	Chr9:95508285	Conflicting classifications of pathogenicity	Gorlin syndrome Basal cell carcinoma, susceptibility to, 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA374121468	rs_1181222222	3 SubmittersRCV000809957 RCV004569662 RCV003166288
NM_000264.5(PTCH1):c.74G>A (p.Gly25Glu)	SNV Germline	Chr9:95508288	Conflicting classifications of pathogenicity	Gorlin syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5139058	rs_774712511	4 SubmittersRCV000823669 RCV001766753 RCV002256554
NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp)	SNV Germline	Chr9:95508346	Conflicting classifications of pathogenicity	Gorlin syndrome Hereditary cancer-predisposing syndrome Basal cell carcinoma, susceptibility to, 1 Holoprosencephaly 7 Basal cell nevus syndrome 1	Criteria Provided Conflicting Classifications	CA374121734	rs_1587701202	3 SubmittersRCV000806251 RCV002397641 RCV005047088
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)	SNV Germline	Chr10:102549981	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA377903009	rs_1171604398	3 SubmittersRCV000803289 RCV001019776 RCV004569599
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)	SNV Germline	Chr10:102597279	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667800	rs_374946819	3 SubmittersRCV000802775 RCV001018573 RCV004569594
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)	SNV Germline	Chr10:102599481	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA5667825	rs_753862598	2 SubmittersRCV000804706 RCV002370137
NM_016169.4(SUFU):c.979A>G (p.Ile327Val)	SNV Germline	Chr10:102599501	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial meningioma	Criteria Provided Conflicting Classifications	CA5667828	rs_752846043	4 SubmittersRCV000793418 RCV001019760 RCV003238218 RCV004569518
NM_016169.4(SUFU):c.1010A>G (p.His337Arg)	SNV Germline	Chr10:102599532	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5667836	rs_377274250	3 SubmittersRCV000810951 RCV001016989 RCV003442099
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)	SNV Germline	Chr10:102599538	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma	Criteria Provided Conflicting Classifications	CA5667841	rs_369910221	4 SubmittersRCV000820866 RCV001009703 RCV003467501
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)	SNV Germline	Chr10:102615273	Conflicting classifications of pathogenicity	Medulloblastoma Gorlin syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA5667864	rs_79299301	3 SubmittersRCV000812889 RCV001017059 RCV004797879
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)	SNV Germline	Chr10:102617412	Conflicting classifications of pathogenicity	Gorlin syndrome Medulloblastoma Hereditary cancer-predisposing syndrome Familial meningioma Condition: not provided	Criteria Provided Conflicting Classifications	CA5667916	rs_771305734	5 SubmittersRCV000806151 RCV001010724 RCV003467415 RCV004777879

SNV
Germline/somatic

Chr10:102599545

Pathogenic

Condition: not provided
Basal cell nevus syndrome 2
SUFU-related disorder
Gorlin syndrome
Medulloblastoma
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA116364

rs_587776578

5 SubmittersRCV000524075 RCV003223388 RCV001270787 RCV000814945 RCV002291207 RCV002415392

NM_000264.5(PTCH1):c.1081C>T (p.Gln361Ter)

SNV
Germline

Chr9:95479134

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA254337

rs_199476090

1 SubmittersRCV000008696

NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)

SNV
Germline

Chr9:95479055

Pathogenic

Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Single Submitter

CA374119328

rs_2118365442

2 SubmittersRCV000008698 RCV004576891

NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)

SNV
Germline

Chr9:95458026

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Condition: not provided
Holoprosencephaly sequence
not specified
Hereditary cancer-predisposing syndrome
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA161680

rs_138911275

18 SubmittersRCV000008707 RCV000034570 RCV000148761 RCV000121888 RCV000574977 RCV001081022 RCV004547468

NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys)

SNV
Germline

Chr10:121517363

Pathogenic/Likely pathogenic

Crouzon syndrome
FGFR2-related craniosynostosis
22 conditions
Condition: not provided
Pfeiffer syndrome
Meier-Gorlin syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA280173

rs_121918494

9 SubmittersRCV000014190 RCV000655421 RCV000626619 RCV000726654 RCV001823713 RCV004813038

NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)

SNV
Germline

Chr9:95506414

Pathogenic

Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Single Submitter

CA374120145

rs_1587692888

2 SubmittersRCV000030726 RCV004576912

NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)

SNV
Germline

Chr9:95467191

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Microform holoprosencephaly
not specified

Criteria Provided
Conflicting Classifications

CA215690

rs_201125580

8 SubmittersRCV000034566 RCV001082796 RCV000570547 RCV005364908 RCV003150938

NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)

SNV
Germline

Chr9:95459653

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA215700

rs_201118857

4 SubmittersRCV000034568 RCV000195909 RCV001016730 RCV005417444

NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)

SNV
Germline

Chr9:95456335

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA215710

rs_202052415

6 SubmittersRCV000034571 RCV000537682 RCV001019424 RCV001535776

NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)

SNV
Germline

Chr9:95449903

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA161699

rs_113663584

14 SubmittersRCV000034572 RCV000121892 RCV000573988 RCV001080851 RCV001166788

NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)

SNV
Germline

Chr9:95447366

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA215715

rs_386833412

5 SubmittersRCV000034574 RCV001086011 RCV001021367

NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)

SNV
Germline

Chr9:95447229

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Holoprosencephaly 7
not specified
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA215720

rs_200100952

7 SubmittersRCV000034576 RCV000226140 RCV000318986 RCV000481212 RCV000565419 RCV004549398

NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)

SNV
Germline

Chr9:95446932

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
not specified
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA161734

rs_143464326

15 SubmittersRCV000034578 RCV000199648 RCV000121899 RCV000390677 RCV000492787 RCV005357254

NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)

SNV
Germline

Chr9:95446931

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA161749

rs_56023271

14 SubmittersRCV000034579 RCV000121903 RCV000123037 RCV000340228 RCV000575546 RCV004549400

NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)

SNV
Germline

Chr9:95447309

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Rieger anomaly
Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome
Holoprosencephaly 7
PTCH1-related disorder
not specified
Holoprosencephaly 7
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA332023

rs_147067171

10 SubmittersRCV000207364 RCV000492441 RCV000588636 RCV001084106 RCV001166719 RCV004551169 RCV005229921 RCV005394406

NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)

SNV
Germline

Chr9:95447337

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
PTCH1-related disorder
not specified
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332089

rs_574880967

10 SubmittersRCV000119211 RCV000567632 RCV000764839 RCV001166720 RCV004551172 RCV005229922 RCV005394410 RCV003237716

NM_000264.5(PTCH1):c.139C>T (p.Arg47Trp)

SNV
Germline

Chr9:95508223

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161655

rs_138729094

5 SubmittersRCV000121882 RCV000462282 RCV001011386 RCV004998242

NM_000264.5(PTCH1):c.104G>A (p.Arg35Gln)

SNV
Germline

Chr9:95508258

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161658

rs_587778627

4 SubmittersRCV000121883 RCV000467292 RCV001017129 RCV004998243

NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)

SNV
Germline

Chr9:95467118

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Basal cell nevus syndrome 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161675

rs_587778628

6 SubmittersRCV000121887 RCV000462194 RCV005055073 RCV002255299 RCV003126502

NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)

SNV
Germline

Chr9:95456341

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Anophthalmia-microphthalmia syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161684

rs_587778629

9 SubmittersRCV000123021 RCV000121889 RCV000207354 RCV000562142 RCV003477514

NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)

SNV
Germline

Chr9:95453551

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA161694

rs_147025073

10 SubmittersRCV000121891 RCV000575313 RCV000167898 RCV001085114 RCV004551190

NM_000264.5(PTCH1):c.3617G>A (p.Arg1206His)

SNV
Germline

Chr9:95449256

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Hereditary cancer-predisposing syndrome
Polydactyly of a triphalangeal thumb
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA161709

rs_560967532

10 SubmittersRCV000123028 RCV000121894 RCV000570402 RCV001078464 RCV001166262 RCV001357018

NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)

SNV
Germline

Chr9:95447094

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA161739

rs_587778631

8 SubmittersRCV000121900 RCV000557708 RCV000766068 RCV002326826 RCV003128392 RCV004551192

NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)

SNV
Germline

Chr9:95446953

Conflicting classifications of pathogenicity

not specified
Retinoblastoma
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA161744

rs_587778632

4 SubmittersRCV000121902 RCV000761023 RCV001022254 RCV001036592

NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)

SNV
Germline

Chr10:102599544

Conflicting classifications of pathogenicity

not specified
Microform holoprosencephaly
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162210

rs_587778699

5 SubmittersRCV000122096 RCV000223867 RCV001017035 RCV000816377 RCV004794363

NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)

SNV
Germline

Chr10:102615290

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Familial meningioma

Criteria Provided
Conflicting Classifications

CA162216

rs_368178771

8 SubmittersRCV000122098 RCV000562404 RCV000726658 RCV000471241 RCV000763642 RCV003460861

NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)

SNV
Germline

Chr10:102615329

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA162219

rs_36049457

6 SubmittersRCV000122099 RCV000570457 RCV000462856 RCV001799621

NM_016169.4(SUFU):c.1028G>A (p.Arg343His)

SNV
Germline

Chr10:102615273

Conflicting classifications of pathogenicity

not specified
Medulloblastoma
Condition: not provided
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
SUFU-related disorder

Criteria Provided
Conflicting Classifications

CA162222

rs_79299301

11 SubmittersRCV000122100 RCV000260834 RCV001354923 RCV000466509 RCV000566455 RCV003467081 RCV000763641 RCV004737208

NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)

SNV
Germline

Chr10:102615350

Conflicting classifications of pathogenicity

not specified
Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2

Criteria Provided
Conflicting Classifications

CA162225

rs_149449923

8 SubmittersRCV000122101 RCV000525787 RCV001009905 RCV003126503 RCV004567055 RCV005025197

NM_000264.5(PTCH1):c.1186C>G (p.Leu396Val)

SNV
Germline

Chr9:95479029

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332443

rs_371424684

2 SubmittersRCV000122995 RCV002336269

NM_000264.5(PTCH1):c.134C>G (p.Pro45Arg)

SNV
Germline

Chr9:95508228

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332457

rs_587780692

3 SubmittersRCV000123000 RCV001011023 RCV004998247

NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg)

SNV
Germline

Chr9:95468824

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA332483

rs_587780697

7 SubmittersRCV000123007 RCV000568151 RCV001166904 RCV003477519 RCV004551203

NM_000264.5(PTCH1):c.2866A>G (p.Met956Val)

SNV
Germline

Chr9:95459621

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332515

rs_587780699

3 SubmittersRCV000123017 RCV000566411

NM_000264.5(PTCH1):c.2887+10G>A

SNV
Germline

Chr9:95459590

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332520

rs_202081420

4 SubmittersRCV000123018 RCV000393428 RCV001529354

NM_000264.5(PTCH1):c.2929T>C (p.Tyr977His)

SNV
Germline

Chr9:95458252

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332521

rs_587780700

2 SubmittersRCV000123019 RCV005462897

NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=)

SNV
Germline

Chr9:95449249

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA332543

rs_149691476

6 SubmittersRCV000123029 RCV000567411 RCV001166261 RCV003477522 RCV005394445

NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)

SNV
Germline

Chr9:95449181

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332548

rs_182045135

6 SubmittersRCV000123030 RCV000355490 RCV000573233 RCV000604409 RCV003430683

NM_000264.5(PTCH1):c.430C>T (p.Arg144Cys)

SNV
Germline

Chr9:95485839

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332574

rs_587780705

3 SubmittersRCV000123036 RCV001022266 RCV003332124

NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp)

SNV
Germline

Chr9:95485769

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA332582

rs_587780707

4 SubmittersRCV000123039 RCV000570937 RCV002460925 RCV003467087

NM_000264.5(PTCH1):c.56G>T (p.Gly19Val)

SNV
Germline

Chr9:95508306

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332592

rs_587780708

3 SubmittersRCV000123041 RCV000484179 RCV001024431

NM_000264.5(PTCH1):c.646A>G (p.Met216Val)

SNV
Germline

Chr9:95482142

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA332595

rs_587780709

3 SubmittersRCV000123042 RCV002362751 RCV004998248

NM_000264.5(PTCH1):c.801G>A (p.Glu267=)

SNV
Germline

Chr9:95480534

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA332600

rs_374155092

6 SubmittersRCV000123043 RCV000566391 RCV001166512 RCV001697048 RCV004551209

NM_000264.5(PTCH1):c.884C>T (p.Pro295Leu)

SNV
Germline

Chr9:95480451

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA332605

rs_370755364

6 SubmittersRCV000123044 RCV000572914 RCV001166511 RCV003227671 RCV005042238

NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)

SNV
Germline

Chr9:95479122

Pathogenic

Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Single Submitter

CA270768

rs_267606984

3 SubmittersRCV000144436 RCV004576922

NM_000264.5(PTCH1):c.3422C>T (p.Ala1141Val)

SNV
Germline

Chr9:95453505

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA272946

rs_376844749

5 SubmittersRCV000148762 RCV000570061 RCV003462056 RCV004998303

NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln)

SNV
Germline

Chr9:95458236

Conflicting classifications of pathogenicity

Congenital heart disease
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA211754

rs_145924695

4 SubmittersRCV000148763 RCV000553221 RCV002433641 RCV003477565

NM_000264.5(PTCH1):c.1234G>T (p.Ala412Ser)

SNV
Germline

Chr9:95478168

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA272951

rs_370354759

8 SubmittersRCV000148764 RCV001010476 RCV001719925 RCV004551298

NM_000264.5(PTCH1):c.395-1G>A

SNV
Germline

Chr9:95485875

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA233400

rs_368869806

12 SubmittersRCV000149897 RCV001021506 RCV001580459 RCV004567170 RCV005042291 RCV004551300

NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg)

SNV
Germline

Chr9:95468896

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell nevus syndrome 1
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA333764

rs_368362152

7 SubmittersRCV000161923 RCV000571964 RCV001560072 RCV005600766 RCV004737255

NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp)

SNV
Germline

Chr9:95447057

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334134

rs_786204094

3 SubmittersRCV000168010 RCV003322756 RCV003162720

NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)

SNV
Germline

Chr9:95447205

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334165

rs_786204103

4 SubmittersRCV000168033 RCV000571329 RCV000764835 RCV004760416

NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)

SNV
Germline

Chr9:95447255

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
PTCH1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA334117

rs_200620662

6 SubmittersRCV000167997 RCV001021641 RCV001589046 RCV002492679 RCV004552935 RCV005230028

NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe)

SNV
Germline

Chr9:95447264

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334332

rs_150373546

3 SubmittersRCV000168137 RCV001589048 RCV001021597

NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)

SNV
Germline

Chr9:95447341

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334555

rs_786204201

3 SubmittersRCV000168289 RCV002281066 RCV002372055

NM_000264.5(PTCH1):c.3168+2T>C

SNV
Germline

Chr9:95458011

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA333995

rs_786204056

1 SubmittersRCV000167915

NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly)

SNV
Germline

Chr9:95459705

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA334645

rs_786204224

2 SubmittersRCV000168358 RCV004020006

NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp)

SNV
Germline

Chr9:95467181

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA334396

rs_786204167

1 SubmittersRCV000168180

NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)

SNV
Germline

Chr9:95467236

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA334170

rs_754623561

5 SubmittersRCV000168036 RCV000764845 RCV001015555 RCV003462255 RCV004998362

NM_000264.5(PTCH1):c.1942C>G (p.His648Asp)

SNV
Germline

Chr9:95469059

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA333941

rs_149762881

4 SubmittersRCV000167878 RCV004567357 RCV002408725 RCV004998360

NM_000264.5(PTCH1):c.324A>G (p.Ile108Met)

SNV
Germline

Chr9:95506477

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA334074

rs_144182921

8 SubmittersRCV000167969 RCV000585211 RCV000574912 RCV003330527 RCV001167033

NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)

SNV
Germline

Chr9:95508249

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Gorlin syndrome
PTCH1-related disorder
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA334489

rs_143494325

13 SubmittersRCV000514130 RCV000605007 RCV001085973 RCV004552937 RCV000569065 RCV001168741

NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly)

SNV
Germline

Chr9:95508325

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
not specified
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA334329

rs_779791579

11 SubmittersRCV000168136 RCV000388546 RCV000567817 RCV000512831 RCV000764853 RCV004689645 RCV004552936

NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=)

SNV
Germline

Chr9:95447296

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA242278

rs_371761874

4 SubmittersRCV000176357 RCV000197006 RCV001021531

NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)

SNV
Germline

Chr9:95447115

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA339439

rs_187104739

7 SubmittersRCV000200618 RCV000489808 RCV000567164 RCV000780653 RCV001168387

NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His)

SNV
Germline

Chr9:95447222

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338163

rs_766315655

3 SubmittersRCV000198754 RCV001021723

NM_000264.5(PTCH1):c.3913G>A (p.Asp1305Asn)

SNV
Germline

Chr9:95447343

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA339428

rs_368528885

2 SubmittersRCV000200607 RCV002321797

NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)

SNV
Germline

Chr9:95447440

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA337463

rs_369295226

7 SubmittersRCV000197817 RCV000576016 RCV003237760 RCV005230067

NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)

SNV
Germline

Chr9:95449244

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA338796

rs_781062564

5 SubmittersRCV000199692 RCV000563841 RCV003129802 RCV005230070

NM_000264.5(PTCH1):c.3450-2A>G

SNV
Germline

Chr9:95449942

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA336742

rs_863224443

1 SubmittersRCV000196825

NM_000264.5(PTCH1):c.3449+1G>A

SNV
Germline

Chr9:95453477

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA336067

rs_863224442

1 SubmittersRCV000195968

NM_000264.5(PTCH1):c.3423G>A (p.Ala1141=)

SNV
Germline

Chr9:95453504

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA337965

rs_745948150

5 SubmittersRCV000198505 RCV000291378 RCV000572494 RCV002478706 RCV004737314

NM_000264.5(PTCH1):c.3388G>A (p.Ala1130Thr)

SNV
Germline

Chr9:95453539

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA336551

rs_766037357

3 SubmittersRCV000196599 RCV001020163 RCV003441778

NM_000264.5(PTCH1):c.3347T>A (p.Val1116Glu)

SNV
Germline

Chr9:95453580

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA338689

rs_863224653

4 SubmittersRCV000199513 RCV001020051 RCV004760428

NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn)

SNV
Germline

Chr9:95461924

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA339119

rs_750373573

7 SubmittersRCV000200138 RCV000571728 RCV000764844 RCV003477667 RCV004737313

NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=)

SNV
Germline

Chr9:95467135

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339572

rs_863224347

3 SubmittersRCV000200833 RCV001015885 RCV003477657

NM_000264.5(PTCH1):c.2035G>A (p.Ala679Thr)

SNV
Germline

Chr9:95468966

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA335838

rs_771882746

2 SubmittersRCV000195690 RCV002415852

NM_000264.5(PTCH1):c.1809C>T (p.Arg603=)

SNV
Germline

Chr9:95469851

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
PTCH1-related disorder
not specified
Holoprosencephaly 7
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA338370

rs_145690756

7 SubmittersRCV000199059 RCV000569655 RCV002503775 RCV004737311 RCV005230062 RCV005396601

NM_000264.5(PTCH1):c.1216-6C>A

SNV
Germline

Chr9:95478192

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Condition: not provided
Gorlin syndrome
not specified
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA336999

rs_186008764

11 SubmittersRCV000381847 RCV000513717 RCV000197142 RCV002478705 RCV002257498 RCV004553091 RCV005625441

NM_000264.5(PTCH1):c.1128C>G (p.Phe376Leu)

SNV
Germline

Chr9:95479087

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA337678

rs_863224648

4 SubmittersRCV000198141 RCV003165466 RCV004567433 RCV005042424

NM_000264.5(PTCH1):c.945+1G>A

SNV
Germline

Chr9:95480389

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA338385

rs_863224444

2 SubmittersRCV000199083 RCV002372181

NM_000264.5(PTCH1):c.666T>A (p.Tyr222Ter)

SNV
Germline

Chr9:95482029

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA338895

rs_863224487

1 SubmittersRCV000199837

NM_000264.5(PTCH1):c.612C>G (p.Tyr204Ter)

SNV
Germline

Chr9:95482176

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA337335

rs_863224486

1 SubmittersRCV000197615

NM_000264.5(PTCH1):c.552G>T (p.Gln184His)

SNV
Germline

Chr9:95485717

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA337075

rs_369893129

3 SubmittersRCV000197270 RCV001024237

NM_000264.5(PTCH1):c.388G>A (p.Val130Met)

SNV
Germline

Chr9:95506413

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA338120

rs_746339472

3 SubmittersRCV000198695 RCV000566926 RCV001818488

NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu)

SNV
Germline

Chr9:95508204

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA338476

rs_372546614

4 SubmittersRCV000199229 RCV001012207

NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys)

SNV
Germline

Chr9:95508216

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Holoprosencephaly 7
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA337135

rs_774156512

4 SubmittersRCV000197356 RCV001011751 RCV004777617 RCV005049476

NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu)

SNV
Germline

Chr9:95508249

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Craniopharyngioma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA339512

rs_143494325

8 SubmittersRCV000200738 RCV000492756 RCV000761034 RCV001723770 RCV001818487

NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr)

SNV
Germline

Chr9:95508295

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided
Holoprosencephaly 7
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA338400

rs_863224654

5 SubmittersRCV000199131 RCV001025668 RCV003462326 RCV004998409 RCV005042425

NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg)

SNV
Germline

Chr9:95477548

Pathogenic/Likely pathogenic

Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279150

rs_863225054

2 SubmittersRCV000201252

NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)

SNV
Germline

Chr9:95446928

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347977

rs_864622100

3 SubmittersRCV000203681 RCV002327059 RCV003319334

NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)

SNV
Germline

Chr9:95446943

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349173

rs_150696398

6 SubmittersRCV000205005 RCV001022274 RCV002485350 RCV002460987

NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)

SNV
Germline

Chr9:95447004

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA349062

rs_369882883

5 SubmittersRCV000484134 RCV001084929 RCV000561736 RCV004547474

NM_000264.5(PTCH1):c.4063A>G (p.Thr1355Ala)

SNV
Germline

Chr9:95447193

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350325

rs_864622456

3 SubmittersRCV000206264 RCV003462379 RCV002321809

NM_000264.5(PTCH1):c.4043A>G (p.Asn1348Ser)

SNV
Germline

Chr9:95447213

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA349324

rs_371943557

4 SubmittersRCV000205121 RCV001021739 RCV000764837 RCV004737329

NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr)

SNV
Germline

Chr9:95449134

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA347981

rs_369966295

4 SubmittersRCV000203685 RCV002363024 RCV002478728 RCV004553117

NM_000264.5(PTCH1):c.3631C>T (p.Pro1211Ser)

SNV
Germline

Chr9:95449242

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA348197

rs_139495263

3 SubmittersRCV000203911 RCV000562097 RCV005042446

NM_000264.5(PTCH1):c.3573C>T (p.Asn1191=)

SNV
Germline

Chr9:95449300

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348402

rs_773389781

3 SubmittersRCV000204156 RCV003298266 RCV003477676

NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val)

SNV
Germline

Chr9:95449902

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA350612

rs_864622120

1 SubmittersRCV000206594

NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val)

SNV
Germline

Chr9:95453485

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350753

rs_369265532

3 SubmittersRCV000414011 RCV000206748 RCV000575762

NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)

SNV
Germline

Chr9:95453555

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA349550

rs_756638660

4 SubmittersRCV000244927 RCV000205391 RCV000571200 RCV001168503

NM_000264.5(PTCH1):c.3338G>A (p.Arg1113His)

SNV
Germline

Chr9:95453589

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA348509

rs_143781513

2 SubmittersRCV000204267 RCV001020029

NM_000264.5(PTCH1):c.3317C>T (p.Thr1106Met)

SNV
Germline

Chr9:95453610

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA349072

rs_769691754

4 SubmittersRCV000204886 RCV002508197 RCV001019931 RCV003462362

NM_000264.5(PTCH1):c.3124G>A (p.Val1042Met)

SNV
Germline

Chr9:95458057

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA348810

rs_772406487

3 SubmittersRCV000204587 RCV002321821 RCV002494541

NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met)

SNV
Germline

Chr9:95458081

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA349770

rs_760902564

5 SubmittersRCV000205641 RCV001770154 RCV002321805 RCV004553115

NM_000264.5(PTCH1):c.3074G>A (p.Arg1025His)

SNV
Germline

Chr9:95458107

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA349395

rs_370150142

3 SubmittersRCV000205211 RCV001539056 RCV001018474

NM_000264.5(PTCH1):c.3010C>G (p.Leu1004Val)

SNV
Germline

Chr9:95458171

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA350749

rs_864622620

2 SubmittersRCV000206746 RCV001018057

NM_000264.5(PTCH1):c.2671G>A (p.Gly891Ser)

SNV
Germline

Chr9:95461888

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
not specified
Condition: not provided
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA349905

rs_570091335

9 SubmittersRCV000205792 RCV000492234 RCV000764843 RCV001800531 RCV003228911 RCV005396654 RCV003153488

NM_000264.5(PTCH1):c.1913G>A (p.Arg638His)

SNV
Germline

Chr9:95469088

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA350619

rs_145766839

7 SubmittersRCV001087187 RCV000592243 RCV000756577 RCV001013676 RCV004547480

NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser)

SNV
Germline

Chr9:95476098

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
not specified

Criteria Provided
Conflicting Classifications

CA348658

rs_181192122

4 SubmittersRCV000204428 RCV000492139 RCV001166441 RCV005230081

NM_000264.5(PTCH1):c.1503+1G>C

SNV
Germline

Chr9:95477546

Pathogenic

Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA348486

rs_864622293

2 SubmittersRCV000204242 RCV000478859

NM_000264.5(PTCH1):c.727T>C (p.Ser243Pro)

SNV
Germline

Chr9:95481968

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA349701

rs_372422922

4 SubmittersRCV000205559 RCV001026226 RCV003462369

NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln)

SNV
Germline

Chr9:95485865

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA349003

rs_375628555

3 SubmittersRCV000204813 RCV001021749 RCV003151756

NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr)

SNV
Germline

Chr9:95506508

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350252

rs_746435405

3 SubmittersRCV000206189 RCV002433907 RCV004760437

NM_000264.5(PTCH1):c.202-6C>T

SNV
Germline

Chr9:95506605

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350531

rs_779129066

2 SubmittersRCV000206513 RCV003477695

NM_000264.5(PTCH1):c.113G>C (p.Gly38Ala)

SNV
Germline

Chr9:95508249

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA350340

rs_143494325

5 SubmittersRCV000206274 RCV000569099 RCV001762440 RCV005042445

NM_000264.5(PTCH1):c.14G>C (p.Gly5Ala)

SNV
Germline

Chr9:95508348

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA347992

rs_864622762

5 SubmittersRCV000203690 RCV002390556 RCV003462395 RCV003477706

NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)

SNV
Germline

Chr9:95456391

Conflicting classifications of pathogenicity

Anophthalmia-microphthalmia syndrome
Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA071573

rs_368417828

6 SubmittersRCV000207365 RCV000456174 RCV001019083 RCV004547503 RCV003477708

NM_000264.5(PTCH1):c.2695A>G (p.Ile899Val)

SNV
Germline

Chr9:95461864

Conflicting classifications of pathogenicity

Irido-corneo-trabecular dysgenesis
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA072669

rs_765371196

4 SubmittersRCV000207421 RCV000791706 RCV002433914 RCV003477709

NM_000264.5(PTCH1):c.521C>T (p.Ala174Val)

SNV
Germline

Chr9:95485748

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA358323

rs_772368023

5 SubmittersRCV003477710 RCV000210888 RCV001023749

NM_003738.5(PTCH2):c.3071C>T (p.Ala1024Val)

SNV
Germline

Chr1:44826293

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA822815

rs_147567317

3 SubmittersRCV000225933 RCV004020800

NM_000264.5(PTCH1):c.4183G>A (p.Gly1395Arg)

SNV
Germline

Chr9:95447073

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA10582672

rs_375626922

3 SubmittersRCV000233151 RCV002327106 RCV003463650

NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)

SNV
Germline

Chr9:95447301

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137992

rs_375998275

6 SubmittersRCV000228335 RCV000279134 RCV001021516 RCV003237785

NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)

SNV
Germline

Chr9:95447343

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA5138008

rs_368528885

5 SubmittersRCV000229142 RCV001021424 RCV001093087 RCV003153522

NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)

SNV
Germline

Chr9:95449249

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome
PTCH1-related disorder
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138100

rs_149691476

7 SubmittersRCV000565657 RCV000732074 RCV001084986 RCV004547585 RCV005396749

NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His)

SNV
Germline

Chr9:95449849

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138123

rs_367784268

3 SubmittersRCV000226480 RCV001020562 RCV004760456

NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)

SNV
Germline

Chr9:95453533

Pathogenic/Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10582674

rs_878853856

3 SubmittersRCV000226160 RCV004020747

NM_000264.5(PTCH1):c.2561-2A>T

SNV
Germline

Chr9:95462000

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA10582678

rs_878853852

1 SubmittersRCV000234129

NM_000264.5(PTCH1):c.2391C>A (p.Tyr797Ter)

SNV
Germline

Chr9:95467285

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA10582679

rs_778260156

1 SubmittersRCV000230356

NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)

SNV
Germline

Chr9:95467373

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA10582681

rs_878853850

3 SubmittersRCV000233705 RCV001015015 RCV005044474

NM_000264.5(PTCH1):c.2074G>A (p.Val692Met)

SNV
Germline

Chr9:95468927

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138451

rs_758487789

3 SubmittersRCV000227159 RCV000999179 RCV001014334

NM_000264.5(PTCH1):c.1989G>C (p.Gln663His)

SNV
Germline

Chr9:95469012

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138470

rs_753002023

8 SubmittersRCV000513814 RCV000563327 RCV000764847 RCV001080435 RCV004547583

NM_000264.5(PTCH1):c.1285G>A (p.Asp429Asn)

SNV
Germline

Chr9:95478117

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138708

rs_377546733

2 SubmittersRCV000233892 RCV002378972

NM_000264.5(PTCH1):c.1067+5G>C

SNV
Germline

Chr9:95479964

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138779

rs_372657547

6 SubmittersRCV000230634 RCV000414676 RCV000492679 RCV001262187

NM_000264.5(PTCH1):c.895C>T (p.Pro299Ser)

SNV
Germline

Chr9:95480440

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138827

rs_745669231

2 SubmittersRCV000233022 RCV001018548

NM_000264.5(PTCH1):c.881G>A (p.Arg294His)

SNV
Germline

Chr9:95480454

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582688

rs_878853859

2 SubmittersRCV000227329 RCV002372254

NM_000264.5(PTCH1):c.202-2A>G

SNV
Germline

Chr9:95506601

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell nevus syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10582690

rs_878853849

4 SubmittersRCV000230457 RCV001014123 RCV002253306 RCV004808535

NM_016169.4(SUFU):c.6G>T (p.Ala2=)

SNV
Germline

Chr10:102504158

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
not specified
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667573

rs_746555296

7 SubmittersRCV000230739 RCV000562975 RCV000609084 RCV001106673 RCV003422152

NM_016169.4(SUFU):c.169A>G (p.Ile57Val)

SNV
Germline

Chr10:102504321

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma
Condition: not provided
Basal cell nevus syndrome 2
Joubert syndrome 32
Medulloblastoma
Familial meningioma
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5667602

rs_377614167

7 SubmittersRCV000232777 RCV000573039 RCV001106675 RCV002264924 RCV005031820 RCV005600869

NM_016169.4(SUFU):c.183-4G>A

SNV
Germline

Chr10:102509165

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
SUFU-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667631

rs_766044613

5 SubmittersRCV000226395 RCV001294223 RCV001013328 RCV004547610 RCV003477833

NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)

SNV
Germline

Chr10:102592633

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667701

rs_142672533

5 SubmittersRCV000226982 RCV001023492 RCV003441816 RCV003463675

NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)

SNV
Germline

Chr10:102597222

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Medulloblastoma
not specified
Craniopharyngioma
Hereditary cancer-predisposing syndrome
Condition: not provided
SUFU-related disorder

Criteria Provided
Conflicting Classifications

CA5667781

rs_145704867

9 SubmittersRCV000233540 RCV000319465 RCV000508167 RCV000761145 RCV000569366 RCV001843499 RCV004547611

NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)

SNV
Germline

Chr10:102599537

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Joubert syndrome 32
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667839

rs_773037813

6 SubmittersRCV000231709 RCV001169975 RCV001017004 RCV003237794 RCV003463673

NM_000264.5(PTCH1):c.2184G>A (p.Thr728=)

SNV
Germline

Chr9:95468817

Conflicting classifications of pathogenicity

not specified
Holoprosencephaly 7
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138437

rs_201103723

5 SubmittersRCV000251671 RCV000310749 RCV000363171 RCV001014718 RCV003477864

NM_000264.5(PTCH1):c.*2276A>T

SNV
Germline

Chr9:95444117

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10627717

rs_868749157

2 SubmittersRCV000277093 RCV000325165 RCV003221962

NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=)

SNV
Germline

Chr9:95449108

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10627742

rs_758229027

3 SubmittersRCV000273534 RCV000368124 RCV004943830

NM_000264.5(PTCH1):c.1808G>A (p.Arg603His)

SNV
Germline

Chr9:95469852

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138519

rs_199523893

6 SubmittersRCV000262784 RCV000315597 RCV001013252 RCV001549504

NM_000264.5(PTCH1):c.1653G>A (p.Thr551=)

SNV
Germline

Chr9:95476109

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5138589

rs_766039170

6 SubmittersRCV000306639 RCV000406833 RCV001012599 RCV004549831 RCV005256604 RCV005434894

NM_016169.4(SUFU):c.910+14C>T

SNV
Germline

Chr10:102597307

Conflicting classifications of pathogenicity

Medulloblastoma
not specified
Condition: not provided
Medulloblastoma
Gorlin syndrome
SUFU-related disorder
Meningioma

Criteria Provided
Conflicting Classifications

CA5667802

rs_202247757

10 SubmittersRCV000371798 RCV000612172 RCV001579614 RCV002059517 RCV004549657 RCV005355624

NM_000264.5(PTCH1):c.4152G>A (p.Pro1384=)

SNV
Germline

Chr9:95447104

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137938

rs_761887390

4 SubmittersRCV000364449 RCV000270056 RCV000569682 RCV003422379

NM_016169.4(SUFU):c.756+10G>C

SNV
Germline

Chr10:102594075

Conflicting classifications of pathogenicity

Medulloblastoma
Medulloblastoma
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5667764

rs_764838079

2 SubmittersRCV000261878 RCV001408156

NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)

SNV
Germline

Chr9:95447223

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137972

rs_556901417

5 SubmittersRCV000263682 RCV000386162 RCV001021721 RCV003237834

NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)

SNV
Germline

Chr9:95467216

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly sequence
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5138400

rs_766227557

5 SubmittersRCV000338756 RCV000392544 RCV001015611 RCV004549829 RCV004586695

NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys)

SNV
Germline

Chr9:95479095

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138756

rs_144323077

3 SubmittersRCV000294710 RCV000351965 RCV002436225

NM_000264.5(PTCH1):c.1049G>A (p.Ser350Asn)

SNV
Germline

Chr9:95479987

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138783

rs_779294007

4 SubmittersRCV000297800 RCV000355034 RCV001017122

NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser)

SNV
Germline

Chr9:95508316

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10634607

rs_1057515721

4 SubmittersRCV000269791 RCV000327144 RCV004725196 RCV002328894

NM_016169.4(SUFU):c.528C>T (p.His176=)

SNV
Germline

Chr10:102592655

Conflicting classifications of pathogenicity

Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Medulloblastoma
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5667703

rs_150569584

6 SubmittersRCV000359058 RCV000567224 RCV000838398 RCV001086076

NM_000264.5(PTCH1):c.1504-1G>C

SNV
Germline

Chr9:95476858

Pathogenic/Likely pathogenic

Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042793

rs_1057518400

2 SubmittersRCV000412941 RCV001850994

NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)

SNV
Germline

Chr9:95447324

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16605764

rs_1057524645

3 SubmittersRCV000434505 RCV001059667 RCV002356625

NM_000264.5(PTCH1):c.3449+11G>A

SNV
Germline

Chr9:95453467

Conflicting classifications of pathogenicity

not specified
Holoprosencephaly 7
Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138152

rs_568528640

4 SubmittersRCV000420148 RCV001166789 RCV001166790 RCV005235291

NM_000264.5(PTCH1):c.1215+14C>T

SNV
Germline

Chr9:95478986

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5138747

rs_367857273

4 SubmittersRCV000434026 RCV001168690 RCV001168689

NM_000264.5(PTCH1):c.3622G>A (p.Ala1208Thr)

SNV
Germline

Chr9:95449251

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16605915

rs_945517672

5 SubmittersRCV000422027 RCV000685775 RCV001020745 RCV004999383

NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)

SNV
Germline

Chr9:95467239

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138403

rs_45579032

7 SubmittersRCV000432257 RCV001015533 RCV003237841 RCV000552853 RCV005600905

NM_000264.5(PTCH1):c.585-1G>C

SNV
Germline

Chr9:95482204

Pathogenic

Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16605923

rs_1057520590

2 SubmittersRCV000442382 RCV000558322

NM_003738.5(PTCH2):c.2782G>A (p.Glu928Lys)

SNV
Germline

Chr1:44826682

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
PTCH2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA822887

rs_199998309

4 SubmittersRCV000459110 RCV003316611 RCV004551556 RCV004022972

NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu)

SNV
Germline

Chr9:95447210

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137968

rs_773298544

3 SubmittersRCV000463140 RCV002323724 RCV003477968

NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His)

SNV
Germline

Chr9:95447312

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137995

rs_357564

3 SubmittersRCV000466958 RCV002374779 RCV004721373

NM_000264.5(PTCH1):c.3748C>T (p.Pro1250Ser)

SNV
Germline

Chr9:95449125

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16612650

rs_1060502265

3 SubmittersRCV000464445 RCV001021032 RCV003470453

NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala)

SNV
Germline

Chr9:95449130

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612654

rs_375857496

2 SubmittersRCV000473413 RCV002348315

NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val)

SNV
Germline

Chr9:95453605

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612665

rs_866037881

2 SubmittersRCV000465324 RCV004022719

NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)

SNV
Germline

Chr9:95458029

Pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16612669

rs_1060502301

3 SubmittersRCV000492750 RCV000477420 RCV004551527

NM_000264.5(PTCH1):c.2102G>T (p.Ser701Ile)

SNV
Germline

Chr9:95468899

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138447

rs_775235892

3 SubmittersRCV000475319 RCV001014444 RCV004767269

NM_000264.5(PTCH1):c.1602+1G>T

SNV
Germline

Chr9:95476758

Pathogenic

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16612681

rs_1060502277

2 SubmittersRCV000459384 RCV005049559

NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile)

SNV
Germline

Chr9:95477630

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138656

rs_766898310

4 SubmittersRCV000472706 RCV002393129 RCV003317219 RCV004551526

NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr)

SNV
Germline

Chr9:95477699

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5138668

rs_142791675

3 SubmittersRCV000468805 RCV001011035 RCV002481434

NM_000264.5(PTCH1):c.896C>T (p.Pro299Leu)

SNV
Germline

Chr9:95480439

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138826

rs_141939274

3 SubmittersRCV000477511 RCV001018572 RCV001539422

NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)

SNV
Germline

Chr9:95508181

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5139032

rs_150069331

7 SubmittersRCV000460523 RCV000764852 RCV001013303 RCV000733153

NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu)

SNV
Germline

Chr9:95508222

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612692

rs_775408408

4 SubmittersRCV000472439 RCV001011398 RCV003329285

NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)

SNV
Germline

Chr10:102504217

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667586

rs_761240106

2 SubmittersRCV000474319 RCV002365622

NM_016169.4(SUFU):c.1245C>T (p.Gly415=)

SNV
Germline

Chr10:102617377

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome
not specified
SUFU-related disorder

Criteria Provided
Conflicting Classifications

CA5667907

rs_144158469

6 SubmittersRCV000505895 RCV000573131 RCV001084319 RCV002475904 RCV004551543

NM_016169.4(SUFU):c.1429G>A (p.Val477Met)

SNV
Germline

Chr10:102630129

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA16612722

rs_1060501117

3 SubmittersRCV000457004 RCV001011538 RCV005027506

NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)

SNV
Germline

Chr10:102630145

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Medulloblastoma
Condition: not provided
Medulloblastoma
Familial meningioma
Basal cell nevus syndrome 2
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5668006

rs_765358771

7 SubmittersRCV000462118 RCV000567793 RCV001105629 RCV003139675 RCV005398652

NM_000264.5(PTCH1):c.4081G>A (p.Val1361Met)

SNV
Germline

Chr9:95447175

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5137959

rs_753535745

3 SubmittersRCV000473480 RCV001021827 RCV005044681

NM_000264.5(PTCH1):c.4042A>G (p.Asn1348Asp)

SNV
Germline

Chr9:95447214

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137969

rs_766576144

2 SubmittersRCV000477533 RCV002323721

NM_000264.5(PTCH1):c.4041C>T (p.His1347=)

SNV
Germline

Chr9:95447215

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612749

rs_774524114

3 SubmittersRCV000460898 RCV002323797 RCV003478030

NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)

SNV
Germline

Chr9:95449130

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA16612752

rs_375857496

5 SubmittersRCV000460375 RCV001770343 RCV001021024 RCV003470454 RCV005398622

NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)

SNV
Germline

Chr9:95467368

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Multiple Submitters
No Conflicts

CA16612765

rs_766313615

4 SubmittersRCV000477338 RCV000492631 RCV001543501 RCV003389327

NM_000264.5(PTCH1):c.2123C>T (p.Thr708Ile)

SNV
Germline

Chr9:95468878

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612767

rs_1060502290

2 SubmittersRCV000471331 RCV001014529

NM_000264.5(PTCH1):c.1882C>T (p.Gln628Ter)

SNV
Germline

Chr9:95469119

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA16612768

rs_1060502274

1 SubmittersRCV000470850

NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile)

SNV
Germline

Chr9:95469146

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA16612769

rs_1060502266

5 SubmittersRCV000456193 RCV001013354 RCV003463911 RCV005398621 RCV005434935

NM_000264.5(PTCH1):c.1068-2A>T

SNV
Germline

Chr9:95479149

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA16612775

rs_1060502271

1 SubmittersRCV000461794

NM_000264.5(PTCH1):c.708G>A (p.Trp236Ter)

SNV
Germline

Chr9:95481987

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA16612778

rs_1060502287

1 SubmittersRCV000467813

NM_000264.5(PTCH1):c.217C>T (p.Arg73Trp)

SNV
Germline

Chr9:95506584

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612786

rs_751511116

3 SubmittersRCV000456917 RCV000565327 RCV004760508

NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)

SNV
Germline

Chr10:102509261

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided
Familial meningioma
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5667641

rs_746322193

6 SubmittersRCV000476504 RCV000763640 RCV001016523 RCV001293037 RCV003105911 RCV004567970 RCV005027505

NM_000264.5(PTCH1):c.4030G>T (p.Ala1344Ser)

SNV
Germline

Chr9:95447226

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137974

rs_765017975

2 SubmittersRCV000468861 RCV002356682

NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)

SNV
Germline

Chr10:102550064

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
SUFU-related disorder

Criteria Provided
Conflicting Classifications

CA5667668

rs_34406289

8 SubmittersRCV000469368 RCV000561880 RCV001821319 RCV002056721 RCV004551542

NM_000264.5(PTCH1):c.3605C>G (p.Pro1202Arg)

SNV
Germline

Chr9:95449268

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612821

rs_374097441

3 SubmittersRCV000472402 RCV001020701 RCV004999461

NM_016169.4(SUFU):c.1023-3C>T

SNV
Germline

Chr10:102615265

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667862

rs_550262133

3 SubmittersRCV000472764 RCV000988447 RCV001017042

NM_016169.4(SUFU):c.1023-2A>T

SNV
Germline

Chr10:102615266

Likely pathogenic

Gorlin syndrome
Medulloblastoma
Joubert syndrome 32
Basal cell nevus syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA16612826

rs_1060501105

2 SubmittersRCV000472343 RCV003448312

NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)

SNV
Germline

Chr9:95453491

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138155

rs_749542089

3 SubmittersRCV000459818 RCV001020304 RCV002481435

NM_000264.5(PTCH1):c.3298G>A (p.Val1100Ile)

SNV
Germline

Chr9:95456284

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138190

rs_577110118

3 SubmittersRCV000462088 RCV001019770

NM_016169.4(SUFU):c.1158-10C>T

SNV
Germline

Chr10:102617280

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612829

rs_904045520

2 SubmittersRCV000457832 RCV002481491

NM_000264.5(PTCH1):c.3169-1G>A

SNV
Germline

Chr9:95456414

Likely pathogenic

Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16612830

rs_1060502285

2 SubmittersRCV000469522 RCV000598878

NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met)

SNV
Germline

Chr9:95458176

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138272

rs_769924767

4 SubmittersRCV000469771 RCV000492158 RCV001269257 RCV004737531

NM_000264.5(PTCH1):c.3003T>A (p.Tyr1001Ter)

SNV
Germline

Chr9:95458178

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA16612835

rs_1060502298

1 SubmittersRCV000461102

NM_000264.5(PTCH1):c.2989A>G (p.Ile997Val)

SNV
Germline

Chr9:95458192

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138273

rs_774440323

4 SubmittersRCV000460986 RCV001017803

NM_000264.5(PTCH1):c.2761A>G (p.Ile921Val)

SNV
Germline

Chr9:95459726

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138329

rs_760174192

3 SubmittersRCV000463361 RCV002436433 RCV003477965

NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met)

SNV
Germline

Chr9:95467343

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138410

rs_747762028

5 SubmittersRCV000461489 RCV001015214 RCV001169317 RCV003477966

NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)

SNV
Germline

Chr9:95468825

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138440

rs_758811078

4 SubmittersRCV000459847 RCV001166905 RCV000601883 RCV001014639

NM_000264.5(PTCH1):c.1526G>A (p.Gly509Asp)

SNV
Germline

Chr9:95476835

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612860

rs_1060502268

3 SubmittersRCV000492336 RCV000477105

NM_000264.5(PTCH1):c.1491T>C (p.Ala497=)

SNV
Germline

Chr9:95477559

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612861

rs_1060504538

3 SubmittersRCV000474147 RCV003542301 RCV003298529

NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)

SNV
Germline

Chr9:95479077

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16612867

rs_772903899

3 SubmittersRCV000472279 RCV000764848 RCV002323720

NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu)

SNV
Germline

Chr9:95479997

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16612869

rs_1060502279

3 SubmittersRCV000458347 RCV001017118 RCV004777673

NM_000264.5(PTCH1):c.777C>T (p.Phe259=)

SNV
Germline

Chr9:95480558

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138841

rs_750313305

4 SubmittersRCV000475731 RCV001026803 RCV001166513 RCV004584723

NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser)

SNV
Germline

Chr9:95485806

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138935

rs_369105527

2 SubmittersRCV000467509 RCV001022827

NM_000264.5(PTCH1):c.329G>C (p.Gly110Ala)

SNV
Germline

Chr9:95506472

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA16612877

rs_1060502284

5 SubmittersRCV000460060 RCV002259341 RCV002323723 RCV003463913

NM_000264.5(PTCH1):c.297C>T (p.Gly99=)

SNV
Germline

Chr9:95506504

Pathogenic/Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612878

rs_772407797

2 SubmittersRCV000457591 RCV000492344

NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)

SNV
Germline

Chr9:95447232

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5137979

rs_781539921

5 SubmittersRCV000470683 RCV000764838 RCV001021696 RCV001166213 RCV004551525

NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)

SNV
Germline

Chr9:95447303

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137993

rs_536440590

3 SubmittersRCV000469995 RCV002298599 RCV001021512

NM_000264.5(PTCH1):c.3805-4G>A

SNV
Germline

Chr9:95447455

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16612904

rs_1060504537

3 SubmittersRCV000474899 RCV002367599 RCV005431690

NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)

SNV
Germline

Chr9:95449139

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138077

rs_767792734

4 SubmittersRCV000472214 RCV000764841 RCV001021000 RCV003441877

NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met)

SNV
Germline

Chr9:95449263

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138104

rs_370675945

3 SubmittersRCV000469976 RCV001020724 RCV003133273

NM_000264.5(PTCH1):c.2974G>T (p.Glu992Ter)

SNV
Germline

Chr9:95458207

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA16612920

rs_1060502278

1 SubmittersRCV000461636

NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)

SNV
Germline

Chr10:102599514

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma
Familial meningioma
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5667830

rs_141359583

5 SubmittersRCV000463863 RCV000563167 RCV001103676 RCV003470410 RCV005027504

NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)

SNV
Germline

Chr10:102615272

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667863

rs_751728820

3 SubmittersRCV000456212 RCV001017023 RCV003463872

NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg)

SNV
Germline

Chr9:95468827

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA16612928

rs_963297092

4 SubmittersRCV000457358 RCV002429510 RCV005044684 RCV004787725

NM_000264.5(PTCH1):c.1628G>A (p.Arg543His)

SNV
Germline

Chr9:95476134

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138595

rs_150284288

3 SubmittersRCV000459756 RCV002255395

NM_000264.5(PTCH1):c.1257G>A (p.Val419=)

SNV
Germline

Chr9:95478145

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16612937

rs_1060504535

3 SubmittersRCV000465554 RCV001010369 RCV005434951

NM_000264.5(PTCH1):c.741C>A (p.Tyr247Ter)

SNV
Germline

Chr9:95481954

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612940

rs_1060502281

2 SubmittersRCV000471602 RCV000492338

NM_016169.4(SUFU):c.50C>T (p.Ala17Val)

SNV
Germline

Chr10:102504202

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome
Medulloblastoma
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667584

rs_12780580

8 SubmittersRCV000573813 RCV000475558 RCV001106674 RCV002291643 RCV002293445

NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)

SNV
Germline

Chr10:102550088

Pathogenic

Gorlin syndrome
Medulloblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16612979

rs_1060501109

4 SubmittersRCV000460887 RCV000519054 RCV002329034

NM_016169.4(SUFU):c.600C>T (p.Ile200=)

SNV
Germline

Chr10:102593638

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Medulloblastoma
Medulloblastoma
Gorlin syndrome
Familial meningioma
Familial meningioma
Medulloblastoma
Basal cell nevus syndrome 2
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA5667730

rs_149513330

16 SubmittersRCV000507081 RCV000568542 RCV000732323 RCV001108833 RCV001081771 RCV003316587 RCV005398653

NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)

SNV
Germline

Chr10:102597249

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667790

rs_149016373

4 SubmittersRCV000465818 RCV000566014 RCV001753876 RCV004567969

NM_016169.4(SUFU):c.911-7G>A

SNV
Germline

Chr10:102599426

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5667816

rs_558661774

5 SubmittersRCV000469308 RCV001529883 RCV002256252 RCV001821240

NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)

SNV
Germline

Chr10:102599447

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667817

rs_148160011

4 SubmittersRCV000458074 RCV001019093 RCV004591295 RCV003463871

NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)

SNV
Germline

Chr10:102615303

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Joubert syndrome 32
Condition: not provided
Gorlin syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667865

rs_137880855

8 SubmittersRCV000464552 RCV001017160 RCV003483616 RCV002480368 RCV003333747 RCV003463873

NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)

SNV
Germline

Chr9:95459654

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618903

rs_1064794260

6 SubmittersRCV000479378 RCV000492276 RCV001216304

NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)

SNV
Germline

Chr9:95461858

Pathogenic

Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618904

rs_1064796618

2 SubmittersRCV000480196 RCV001227735

NM_000264.5(PTCH1):c.1603-2A>G

SNV
Germline

Chr9:95476161

Pathogenic/Likely pathogenic

Condition: not provided
Gorlin syndrome
PTCH1-related disorder
Basal cell nevus syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16618908

rs_1064793921

4 SubmittersRCV000483991 RCV000543539 RCV004551583 RCV004594064

NM_000264.5(PTCH1):c.1348-2A>G

SNV
Germline

Chr9:95477704

Pathogenic

Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618909

rs_1064793978

2 SubmittersRCV000486543 RCV001385525

NM_000264.5(PTCH1):c.590G>A (p.Trp197Ter)

SNV
Germline

Chr9:95482198

Pathogenic

Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618913

rs_1064793922

2 SubmittersRCV000478704 RCV000551617

NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)

SNV
Germline

Chr9:95477547

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA466120228

rs_1085307511

2 SubmittersRCV000489836 RCV002528230

NM_000264.5(PTCH1):c.3499G>A (p.Gly1167Arg)

SNV
Germline

Chr9:95449891

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374111537

rs_1131690985

2 SubmittersRCV000492431 RCV002523443

NM_000264.5(PTCH1):c.3404T>C (p.Leu1135Pro)

SNV
Germline

Chr9:95453523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374111741

rs_1131690989

2 SubmittersRCV000492191 RCV001036728

NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala)

SNV
Germline

Chr9:95453530

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374111755

rs_1131690996

3 SubmittersRCV000492102 RCV001319080

NM_000264.5(PTCH1):c.3027C>A (p.Tyr1009Ter)

SNV
Germline

Chr9:95458154

Pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374112550

rs_747234651

2 SubmittersRCV000492224 RCV001387763

NM_000264.5(PTCH1):c.2190G>A (p.Trp730Ter)

SNV
Germline

Chr9:95468811

Pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374115391

rs_1131690992

2 SubmittersRCV000492480 RCV001386362

NM_000264.5(PTCH1):c.1846A>G (p.Ser616Gly)

SNV
Germline

Chr9:95469814

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16044079

rs_1131690983

2 SubmittersRCV002304207 RCV002413353

NM_000264.5(PTCH1):c.1804C>T (p.Arg602Ter)

SNV
Germline

Chr9:95469856

Pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374116308

rs_863224650

2 SubmittersRCV000492414 RCV003502533

NM_000264.5(PTCH1):c.1379G>A (p.Trp460Ter)

SNV
Germline

Chr9:95477671

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374118622

rs_1131690974

2 SubmittersRCV001209294 RCV000492113

NM_000264.5(PTCH1):c.1308C>A (p.Asp436Glu)

SNV
Germline

Chr9:95478094

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138705

rs_148471237

3 SubmittersRCV004772938 RCV000492565 RCV000548435

NM_000264.5(PTCH1):c.403C>T (p.Arg135Ter)

SNV
Germline

Chr9:95485866

Pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374117333

rs_1131690986

3 SubmittersRCV000492613 RCV000687492 RCV000760320

NM_000264.5(PTCH1):c.394+1G>A

SNV
Germline

Chr9:95506406

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374120125

rs_1131690995

3 SubmittersRCV000492083 RCV000578764 RCV001208405

NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg)

SNV
Germline

Chr9:95506484

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374120289

rs_1131690998

2 SubmittersRCV000492650 RCV000703153

NM_000264.5(PTCH1):c.202-2A>C

SNV
Germline

Chr9:95506601

Pathogenic/Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374120777

rs_878853849

3 SubmittersRCV001380172 RCV000492766 RCV002475969

NM_000264.5(PTCH1):c.2561-1G>A

SNV
Germline

Chr9:95461999

Pathogenic

Condition: not provided
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374113600

rs_1131691700

3 SubmittersRCV000493366 RCV003609154

NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)

SNV
Germline

Chr9:95508175

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374121269

rs_781768965

3 SubmittersRCV000493575 RCV002413356 RCV005091044

NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu)

SNV
Germline

Chr9:95447187

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA374110382

rs_757909121

4 SubmittersRCV000533630 RCV002323900 RCV004592545 RCV005049594

NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=)

SNV
Germline

Chr9:95449204

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138085

rs_780515178

4 SubmittersRCV000529899 RCV000561091 RCV004553164

NM_000264.5(PTCH1):c.3208A>G (p.Met1070Val)

SNV
Germline

Chr9:95456374

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138211

rs_768302786

2 SubmittersRCV000531777 RCV004772951

NM_000264.5(PTCH1):c.2908G>A (p.Glu970Lys)

SNV
Germline

Chr9:95458273

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112811

rs_1201956507

2 SubmittersRCV000549591 RCV001016905

NM_000264.5(PTCH1):c.2634C>A (p.Asp878Glu)

SNV
Germline

Chr9:95461925

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138358

rs_771732591

3 SubmittersRCV000556427 RCV000566149

NM_000264.5(PTCH1):c.2619C>G (p.Tyr873Ter)

SNV
Germline

Chr9:95461940

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113458

rs_1554692291

1 SubmittersRCV000544181

NM_000264.5(PTCH1):c.2027A>G (p.Tyr676Cys)

SNV
Germline

Chr9:95468974

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374115809

rs_1274998781

2 SubmittersRCV000559748 RCV002420330

NM_000264.5(PTCH1):c.1489G>A (p.Ala497Thr)

SNV
Germline

Chr9:95477561

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374118397

rs_1398130707

3 SubmittersRCV000529142 RCV002395269 RCV003478089

NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met)

SNV
Germline

Chr9:95477577

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138651

rs_768183391

2 SubmittersRCV000540664 RCV001011776

NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe)

SNV
Germline

Chr9:95506440

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374120200

rs_776424978

2 SubmittersRCV000532806 RCV002456027

NM_016169.4(SUFU):c.757-4G>T

SNV
Germline

Chr10:102597136

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA658658013

rs_1554852773

2 SubmittersRCV000556003 RCV001026578

NM_016169.4(SUFU):c.1005C>T (p.Leu335=)

SNV
Germline

Chr10:102599527

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667833

rs_575246362

3 SubmittersRCV000536560 RCV002413425 RCV005000108

NM_000264.5(PTCH1):c.4200C>T (p.Gly1400=)

SNV
Germline

Chr9:95447056

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466351318

rs_1554688167

3 SubmittersRCV000535240 RCV002329252 RCV005000107

NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys)

SNV
Germline

Chr9:95447244

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5137985

rs_374346190

4 SubmittersRCV000555828 RCV001021658 RCV005000106 RCV005231007

NM_000264.5(PTCH1):c.3622G>T (p.Ala1208Ser)

SNV
Germline

Chr9:95449251

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196566474

rs_945517672

2 SubmittersRCV000540835 RCV001020746

NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met)

SNV
Germline

Chr9:95453536

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138159

rs_566619057

4 SubmittersRCV000551653 RCV001020180 RCV003153669 RCV005000105

NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)

SNV
Germline

Chr9:95458245

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138281

rs_758907408

4 SubmittersRCV000542578 RCV003488654 RCV004023661 RCV004777703

NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys)

SNV
Germline

Chr9:95469089

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196586900

rs_1053507002

2 SubmittersRCV000545851 RCV002413423

NM_000264.5(PTCH1):c.1903G>A (p.Asp635Asn)

SNV
Germline

Chr9:95469098

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138485

rs_372555269

4 SubmittersRCV000552271 RCV001013631 RCV003236807

NM_000264.5(PTCH1):c.926C>T (p.Pro309Leu)

SNV
Germline

Chr9:95480409

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138816

rs_762382517

2 SubmittersRCV000560764 RCV002376975

NM_000264.5(PTCH1):c.545C>T (p.Ala182Val)

SNV
Germline

Chr9:95485724

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138926

rs_567721919

2 SubmittersRCV000556825 RCV002350162

NM_000264.5(PTCH1):c.413G>A (p.Arg138His)

SNV
Germline

Chr9:95485856

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138940

rs_763774051

4 SubmittersRCV000545328 RCV001021936 RCV004568692 RCV004820041

NM_000264.5(PTCH1):c.372C>G (p.Asn124Lys)

SNV
Germline

Chr9:95506429

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138977

rs_763779667

2 SubmittersRCV000531263 RCV002350159

NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp)

SNV
Germline

Chr9:95508253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5139049

rs_199976372

5 SubmittersRCV002448589 RCV001797745 RCV005000103 RCV000531311

NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)

SNV
Germline

Chr9:95446954

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5137901

rs_201357130

7 SubmittersRCV000526656 RCV000567943 RCV003237887 RCV005231008

NM_000264.5(PTCH1):c.3977C>T (p.Ser1326Phe)

SNV
Germline

Chr9:95447279

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137989

rs_764964224

2 SubmittersRCV000538812 RCV002323899

NM_000264.5(PTCH1):c.3956G>A (p.Arg1319His)

SNV
Germline

Chr9:95447300

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5137991

rs_572658914

3 SubmittersRCV000526107 RCV000567082 RCV004737601

NM_000264.5(PTCH1):c.3912G>T (p.Arg1304Ser)

SNV
Germline

Chr9:95447344

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196558476

rs_757702954

2 SubmittersRCV000524899 RCV002358424

NM_000264.5(PTCH1):c.3804T>C (p.Thr1268=)

SNV
Germline

Chr9:95449069

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196566007

rs_951501624

2 SubmittersRCV000542951 RCV002367755

NM_000264.5(PTCH1):c.3784C>T (p.Pro1262Ser)

SNV
Germline

Chr9:95449089

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196566069

rs_970679518

2 SubmittersRCV000560684 RCV001021128

NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met)

SNV
Germline

Chr9:95449187

Conflicting classifications of pathogenicity

Gorlin syndrome
See cases
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138084

rs_781080456

3 SubmittersRCV000554810 RCV002252157 RCV002456028

NM_000264.5(PTCH1):c.2739C>A (p.Ile913=)

SNV
Germline

Chr9:95459748

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466111908

rs_1305314328

3 SubmittersRCV000551079 RCV002438265 RCV004777702

NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp)

SNV
Germline

Chr9:95468829

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138441

rs_747274181

3 SubmittersRCV000524846 RCV002431502 RCV003470690

NM_000264.5(PTCH1):c.2015C>T (p.Thr672Met)

SNV
Germline

Chr9:95468986

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138463

rs_372219420

4 SubmittersRCV000547194 RCV002256331 RCV005000104

NM_016169.4(SUFU):c.529A>G (p.Met177Val)

SNV
Germline

Chr10:102592656

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Medulloblastoma
not specified
Condition: not provided
Familial meningioma
Joubert syndrome 32
Basal cell nevus syndrome 2
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5667704

rs_758672583

7 SubmittersRCV000548377 RCV001023883 RCV001108832 RCV003151082 RCV003325488 RCV005027622

NM_000264.5(PTCH1):c.1837T>C (p.Cys613Arg)

SNV
Germline

Chr9:95469823

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196587573

rs_948568790

4 SubmittersRCV000527333 RCV001013308 RCV004592544

NM_000264.5(PTCH1):c.1324G>A (p.Val442Met)

SNV
Germline

Chr9:95478078

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196593928

rs_759493890

3 SubmittersRCV000528982 RCV001011019 RCV005416363

NM_016169.4(SUFU):c.1085G>A (p.Arg362His)

SNV
Germline

Chr10:102615330

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667867

rs_755390277

3 SubmittersRCV000526543 RCV001017164 RCV003470693

NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)

SNV
Germline

Chr10:102617405

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667912

rs_748099523

4 SubmittersRCV000552236 RCV001010686 RCV003441908

NM_000264.5(PTCH1):c.1234G>A (p.Ala412Thr)

SNV
Germline

Chr9:95478168

Conflicting classifications of pathogenicity

Gorlin syndrome
Germinoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138714

rs_370354759

4 SubmittersRCV000531450 RCV000761046 RCV001010474 RCV004721410

NM_000264.5(PTCH1):c.1083G>A (p.Gln361=)

SNV
Germline

Chr9:95479132

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466122836

rs_1554699269

3 SubmittersRCV000554725 RCV001017230 RCV004722866

NM_000264.5(PTCH1):c.366G>C (p.Glu122Asp)

SNV
Germline

Chr9:95506435

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA374120191

rs_1479871006

3 SubmittersRCV000546788 RCV004023662 RCV005044790

NM_000264.5(PTCH1):c.149T>C (p.Leu50Pro)

SNV
Germline

Chr9:95508213

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA196555434

rs_1019888019

3 SubmittersRCV000546739 RCV001011913 RCV005231005

NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)

SNV
Germline

Chr10:102597263

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5667796

rs_143807689

6 SubmittersRCV000533501 RCV001018372 RCV001797095 RCV002231641

NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)

SNV
Germline

Chr10:102599528

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667834

rs_746448939

4 SubmittersRCV000549074 RCV001799674 RCV002420334

NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His)

SNV
Germline

Chr9:95447243

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5137984

rs_771238114

4 SubmittersRCV000527574 RCV002358425 RCV004597815 RCV003459159

NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys)

SNV
Germline

Chr9:95447439

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138030

rs_749244396

2 SubmittersRCV000535950 RCV001021221

NM_000264.5(PTCH1):c.3346G>A (p.Val1116Met)

SNV
Germline

Chr9:95453581

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
not specified

Criteria Provided
Conflicting Classifications

CA5138165

rs_201605273

5 SubmittersRCV000558601 RCV002323898 RCV003459158 RCV004800444

NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala)

SNV
Germline

Chr9:95456331

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112062

rs_1463935039

2 SubmittersRCV000550609 RCV002323897

NM_000264.5(PTCH1):c.2062C>T (p.Gln688Ter)

SNV
Germline

Chr9:95468939

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374115737

rs_1554695039

2 SubmittersRCV000535004 RCV002420332

NM_000264.5(PTCH1):c.876G>A (p.Met292Ile)

SNV
Germline

Chr9:95480459

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138830

rs_776187586

2 SubmittersRCV000529527 RCV001018304

NM_000264.5(PTCH1):c.584G>C (p.Arg195Thr)

SNV
Germline

Chr9:95485685

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374116546

rs_1554702009

2 SubmittersRCV000545639 RCV002358426

NM_000264.5(PTCH1):c.451G>T (p.Ala151Ser)

SNV
Germline

Chr9:95485818

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138937

rs_751024812

3 SubmittersRCV000554128 RCV002341240 RCV003236808

NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)

SNV
Germline

Chr10:102599513

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667829

rs_768170991

4 SubmittersRCV000537135 RCV001019891 RCV001584236 RCV003459161

NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)

SNV
Germline

Chr10:102630079

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Gorlin syndrome
Joubert syndrome 32
Medulloblastoma
Gorlin syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5668000

rs_778125780

7 SubmittersRCV000545540 RCV000561960 RCV000763644 RCV001294222 RCV003139745 RCV003470694

NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg)

SNV
Germline

Chr9:95447312

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374110618

rs_357564

2 SubmittersRCV000565121 RCV001224285

NM_000264.5(PTCH1):c.2177C>T (p.Pro726Leu)

SNV
Germline

Chr9:95468824

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374115435

rs_587780697

2 SubmittersRCV000563615 RCV001047492

NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys)

SNV
Germline

Chr9:95477662

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138662

rs_764195249

4 SubmittersRCV000567180 RCV001218528 RCV001553654 RCV003478294

NM_000264.5(PTCH1):c.1342C>A (p.Leu448Ile)

SNV
Germline

Chr9:95478060

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138699

rs_537871675

3 SubmittersRCV000564480 RCV000628385

NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=)

SNV
Germline

Chr9:95447122

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5137946

rs_775499386

4 SubmittersRCV000576053 RCV000628450 RCV001168388

NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)

SNV
Germline

Chr9:95449298

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138105

rs_762040036

4 SubmittersRCV000569176 RCV000764842 RCV000819357 RCV005429028

NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr)

SNV
Germline

Chr9:95459690

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138323

rs_373120584

2 SubmittersRCV000568877 RCV000822888

NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)

SNV
Germline

Chr9:95461997

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138366

rs_751613059

3 SubmittersRCV000567392 RCV000934938 RCV003237942

NM_000264.5(PTCH1):c.1519G>A (p.Ala507Thr)

SNV
Germline

Chr9:95476842

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138626

rs_745669155

2 SubmittersRCV000564332 RCV000688021

NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)

SNV
Germline

Chr9:95485857

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Condition: not provided
Ovarian cancer
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138941

rs_139535966

5 SubmittersRCV000567855 RCV000697497 RCV000764851 RCV002464261 RCV003153746 RCV005044857

NM_000264.5(PTCH1):c.331G>A (p.Ala111Thr)

SNV
Germline

Chr9:95506470

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138986

rs_777897973

2 SubmittersRCV000563183 RCV002530342

NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys)

SNV
Germline

Chr9:95506547

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5138995

rs_151310492

3 SubmittersRCV000575041 RCV000628361 RCV001591341

NM_000264.5(PTCH1):c.91G>A (p.Gly31Arg)

SNV
Germline

Chr9:95508271

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5139053

rs_768512190

3 SubmittersRCV000575799 RCV000628426 RCV003321684

NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)

SNV
Germline

Chr10:102504219

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667587

rs_766666529

3 SubmittersRCV000574522 RCV000821320 RCV003325496

NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=)

SNV
Germline

Chr9:95447001

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA5137911

rs_139942632

4 SubmittersRCV001055553 RCV000568656 RCV004553287 RCV005418223

NM_000264.5(PTCH1):c.4181G>A (p.Arg1394Gln)

SNV
Germline

Chr9:95447075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5137932

rs_748812637

2 SubmittersRCV000574713 RCV000692688

NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp)

SNV
Germline

Chr9:95449119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138071

rs_780990429

2 SubmittersRCV000563856 RCV000816911

NM_000264.5(PTCH1):c.3130G>A (p.Ala1044Thr)

SNV
Germline

Chr9:95458051

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138250

rs_138458710

3 SubmittersRCV000573885 RCV000797992 RCV004721458

NM_000264.5(PTCH1):c.1945A>G (p.Ser649Gly)

SNV
Germline

Chr9:95469056

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138478

rs_375049109

3 SubmittersRCV000568417 RCV000701978 RCV004592776

NM_000264.5(PTCH1):c.1324G>T (p.Val442Leu)

SNV
Germline

Chr9:95478078

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138701

rs_759493890

3 SubmittersRCV000564856 RCV001222454 RCV003465272

NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile)

SNV
Germline

Chr9:95478155

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138713

rs_201174718

3 SubmittersRCV000572981 RCV000628345 RCV004760621

NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn)

SNV
Germline

Chr9:95480557

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138840

rs_765174527

2 SubmittersRCV000560942 RCV001221037

NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)

SNV
Germline

Chr9:95508288

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5139057

rs_774712511

3 SubmittersRCV000564085 RCV000821615 RCV001168742

NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)

SNV
Germline

Chr10:102617364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Gorlin syndrome
Medulloblastoma
Familial meningioma
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5667904

rs_368020224

6 SubmittersRCV000568227 RCV000763643 RCV000705071 RCV003459402 RCV004783816 RCV005231110

NM_000264.5(PTCH1):c.101G>A (p.Arg34Lys)

SNV
Germline

Chr9:95508261

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5139050

rs_771847879

3 SubmittersRCV000590878 RCV002367995

NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)

SNV
Germline

Chr9:95447236

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5137982

rs_773564643

4 SubmittersRCV000593828 RCV001021684 RCV001078501 RCV004553341

NM_000264.5(PTCH1):c.125C>G (p.Ala42Gly)

SNV
Germline

Chr9:95508237

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196555548

rs_1030446889

3 SubmittersRCV000613176 RCV000802616 RCV001010621

NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)

SNV
Germline

Chr9:95458074

Pathogenic

Inborn genetic diseases
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374112378

rs_1554691359

2 SubmittersRCV000622424 RCV005091804

NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)

SNV
Germline

Chr9:95476782

Pathogenic

Inborn genetic diseases
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374118196

rs_1554698260

3 SubmittersRCV000622493 RCV000988234

NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)

SNV
Germline

Chr9:95506567

Pathogenic

Inborn genetic diseases
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374120644

rs_1554708787

2 SubmittersRCV000622946 RCV001855303

NM_000264.5(PTCH1):c.1322G>A (p.Arg441His)

SNV
Germline

Chr9:95478080

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138702

rs_767273237

4 SubmittersRCV000626073 RCV004588003 RCV002385962

NM_003738.5(PTCH2):c.1598T>C (p.Ile533Thr)

SNV
Germline

Chr1:44828407

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA823229

rs_61751010

2 SubmittersRCV000628331 RCV004025315

NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro)

SNV
Germline

Chr1:44832296

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA823670

rs_80168454

3 SubmittersRCV000628473 RCV005392190

NM_000264.5(PTCH1):c.4340A>G (p.Asn1447Ser)

SNV
Germline

Chr9:95446916

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA196557219

rs_972576439

4 SubmittersRCV000628353 RCV001022324 RCV003465380 RCV004737904

NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)

SNV
Germline

Chr9:95447348

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138011

rs_779365332

3 SubmittersRCV000628381 RCV000764840 RCV002358748

NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile)

SNV
Germline

Chr9:95456290

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138191

rs_748726158

6 SubmittersRCV000628342 RCV001019715 RCV003153766 RCV003153767 RCV004737901

NM_000264.5(PTCH1):c.2891C>T (p.Pro964Leu)

SNV
Germline

Chr9:95458290

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138288

rs_377120922

2 SubmittersRCV000628391 RCV002438623

NM_000264.5(PTCH1):c.2794G>A (p.Val932Ile)

SNV
Germline

Chr9:95459693

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138325

rs_376084632

3 SubmittersRCV000628350 RCV002438620 RCV004722990

NM_000264.5(PTCH1):c.2045G>A (p.Arg682His)

SNV
Germline

Chr9:95468956

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374115772

rs_1366288601

3 SubmittersRCV000628369 RCV002420663 RCV003129947

NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn)

SNV
Germline

Chr9:95468996

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138465

rs_772574714

2 SubmittersRCV000628371 RCV002420664

NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn)

SNV
Germline

Chr9:95469107

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 1
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138488

rs_559293815

4 SubmittersRCV000628395 RCV001199897 RCV001013602 RCV005392189

NM_000264.5(PTCH1):c.1209T>G (p.Tyr403Ter)

SNV
Germline

Chr9:95479006

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374119216

rs_1432645175

2 SubmittersRCV000628408 RCV002358749

NM_000264.5(PTCH1):c.905C>G (p.Pro302Arg)

SNV
Germline

Chr9:95480430

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374113770

rs_1487227339

3 SubmittersRCV000628415 RCV001018732 RCV003459483

NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)

SNV
Germline

Chr10:102597258

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667793

rs_193921097

2 SubmittersRCV000628495 RCV002377337

NM_000264.5(PTCH1):c.3920C>T (p.Pro1307Leu)

SNV
Germline

Chr9:95447336

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 1
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5138005

rs_181585555

3 SubmittersRCV000628389 RCV001021443 RCV005044911

NM_000264.5(PTCH1):c.3008G>A (p.Ser1003Asn)

SNV
Germline

Chr9:95458173

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138270

rs_769866360

3 SubmittersRCV000628372 RCV004773046 RCV002438622

NM_000264.5(PTCH1):c.1218G>A (p.Val406=)

SNV
Germline

Chr9:95478184

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138718

rs_753586235

4 SubmittersRCV000628464 RCV001010381 RCV002464273

NM_000264.5(PTCH1):c.767G>A (p.Trp256Ter)

SNV
Germline

Chr9:95480568

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114539

rs_1554700010

1 SubmittersRCV000628399

NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)

SNV
Germline

Chr9:95482006

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374114915

rs_1554700630

4 SubmittersRCV000628428 RCV001025771 RCV002464272

NM_000264.5(PTCH1):c.499G>A (p.Ala167Thr)

SNV
Germline

Chr9:95485770

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138932

rs_149547604

3 SubmittersRCV000628337 RCV001023385

NM_000264.5(PTCH1):c.68C>T (p.Ala23Val)

SNV
Germline/somatic

Chr9:95508294

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified
Lung adenocarcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5139062

rs_761204245

6 SubmittersRCV000628480 RCV002258974 RCV005056355 RCV003128669 RCV004588053

NM_000264.5(PTCH1):c.3529T>G (p.Phe1177Val)

SNV
Germline

Chr9:95449861

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138124

rs_772200521

2 SubmittersRCV000628362 RCV002457970

NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)

SNV
Germline

Chr9:95458115

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA5138260

rs_755755175

3 SubmittersRCV000628432 RCV001018405 RCV001169240

NM_016169.4(SUFU):c.682A>G (p.Ile228Val)

SNV
Germline

Chr10:102593720

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA212266200

rs_555976050

3 SubmittersRCV000628515 RCV001025695 RCV004777774

NM_016169.4(SUFU):c.894G>T (p.Arg298=)

SNV
Germline

Chr10:102597277

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667799

rs_372636246

3 SubmittersRCV001425629 RCV002257864

NM_000264.5(PTCH1):c.2704-3T>C

SNV
Germline

Chr9:95459786

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA589581190

rs_1208489068

2 SubmittersRCV000628370 RCV001016359

NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys)

SNV
Germline

Chr9:95469850

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138517

rs_778627715

4 SubmittersRCV000628418 RCV002413786 RCV002507054 RCV004584775

NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile)

SNV
Germline

Chr9:95479973

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138781

rs_555332902

3 SubmittersRCV000628405 RCV002413785 RCV005431818

NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)

SNV
Germline

Chr9:95480434

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5138823

rs_767601899

6 SubmittersRCV000628378 RCV000764850 RCV001018662 RCV003441975 RCV005056354

NM_000264.5(PTCH1):c.433C>T (p.Gln145Ter)

SNV
Germline

Chr9:95485836

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374117210

rs_1554702186

1 SubmittersRCV000628382

NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)

SNV
Germline

Chr9:95506554

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374120553

rs_1263611523

3 SubmittersRCV000628417 RCV001168740 RCV001015642

NM_016169.4(SUFU):c.703A>G (p.Ile235Val)

SNV
Germline

Chr10:102594012

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667758

rs_144666812

3 SubmittersRCV000628494 RCV001025956 RCV004773047

NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln)

SNV
Germline

Chr9:95447215

Conflicting classifications of pathogenicity

Gorlin syndrome
PTCH1-related disorder
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137970

rs_774524114

6 SubmittersRCV000628366 RCV004737905 RCV001021737 RCV003478334

NM_000264.5(PTCH1):c.3643C>A (p.His1215Asn)

SNV
Germline

Chr9:95449230

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374111239

rs_1554689404

2 SubmittersRCV000628356 RCV004025317

NM_000264.5(PTCH1):c.2561-2A>G

SNV
Germline

Chr9:95462000

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113601

rs_878853852

1 SubmittersRCV000628343

NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)

SNV
Germline

Chr9:95467179

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138395

rs_771222407

5 SubmittersRCV000628354 RCV002431839 RCV003478333 RCV002492930

NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)

SNV
Germline

Chr9:95467348

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA196585882

rs_923429610

3 SubmittersRCV001015200 RCV000628375 RCV003459482

NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)

SNV
Germline

Chr9:95467389

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138418

rs_544963328

5 SubmittersRCV000628339 RCV000764846 RCV001015070 RCV003424195

NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln)

SNV
Germline

Chr9:95469076

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA5138481

rs_762371629

3 SubmittersRCV000628392 RCV003380642 RCV005601049

NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)

SNV
Germline

Chr9:95476815

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374118270

rs_1554698288

5 SubmittersRCV000628430 RCV002404714 RCV002477370 RCV003459484 RCV004760658

NM_000264.5(PTCH1):c.1347+6G>A

SNV
Germline

Chr9:95478049

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA196593864

rs_372655486

5 SubmittersRCV000628347 RCV004702211 RCV002248833 RCV002385965 RCV004737903

NM_000264.5(PTCH1):c.1318A>G (p.Ile440Val)

SNV
Germline

Chr9:95478084

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138703

rs_752530755

3 SubmittersRCV000628380 RCV001010959 RCV003238788

NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His)

SNV
Germline

Chr9:95479008

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374119223

rs_1349048226

2 SubmittersRCV000628346 RCV001010309

NM_000264.5(PTCH1):c.955A>G (p.Met319Val)

SNV
Germline

Chr9:95480081

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374119806

rs_1438545679

3 SubmittersRCV000628329 RCV001019483 RCV004760657

NM_000264.5(PTCH1):c.448G>T (p.Glu150Ter)

SNV
Germline

Chr9:95485821

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374117142

rs_1344258746

2 SubmittersRCV000628407 RCV002331101

NM_000264.5(PTCH1):c.63C>T (p.Ile21=)

SNV
Germline

Chr9:95508299

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466107874

rs_1284183739

3 SubmittersRCV000628448 RCV001168743 RCV003162776

NM_016169.4(SUFU):c.26C>T (p.Ala9Val)

SNV
Germline

Chr10:102504178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome
Familial meningioma
Condition: not provided
Familial meningioma
Basal cell nevus syndrome 2
Medulloblastoma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA377886134

rs_775491374

5 SubmittersRCV001016349 RCV000628510 RCV003459485 RCV003237957 RCV005027739

NM_016169.4(SUFU):c.183-1G>A

SNV
Germline

Chr10:102509168

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA377888078

rs_1554841447

2 SubmittersRCV000628498 RCV004948478

NM_000264.5(PTCH1):c.1216-1G>A

SNV
Germline

Chr9:95478187

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Multiple Submitters
No Conflicts

CA374119021

rs_1564051834

3 SubmittersRCV001010334 RCV000680079 RCV001830477

NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)

SNV
Germline

Chr9:95447118

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Condition: not provided
Hereditary cancer
not specified

Criteria Provided
Conflicting Classifications

CA5137945

rs_111481152

6 SubmittersRCV000699784 RCV001021931 RCV000766069 RCV003478431 RCV005231290 RCV005436022

NM_000264.5(PTCH1):c.3716G>C (p.Arg1239Pro)

SNV
Germline

Chr9:95449157

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138080

rs_758728491

2 SubmittersRCV000694113 RCV002343481

NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys)

SNV
Germline

Chr9:95461882

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138355

rs_753008328

3 SubmittersRCV000685754 RCV001016285 RCV004547853

NM_000264.5(PTCH1):c.2515C>T (p.Gln839Ter)

SNV
Germline

Chr9:95467161

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113843

rs_1564030530

1 SubmittersRCV000688465

NM_000264.5(PTCH1):c.1602+1G>A

SNV
Germline

Chr9:95476758

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118141

rs_1060502277

1 SubmittersRCV000695355

NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr)

SNV
Germline

Chr9:95476769

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374118165

rs_1227526379

2 SubmittersRCV000702109 RCV002397457

NM_000264.5(PTCH1):c.468A>C (p.Gln156His)

SNV
Germline

Chr9:95485801

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374117055

rs_200729445

2 SubmittersRCV000685329 RCV002331322

NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)

SNV
Germline

Chr10:102504327

Pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

CA377886765

rs_1564654588

1 SubmittersRCV000705859

NM_016169.4(SUFU):c.454+1G>A

SNV
Germline

Chr10:102550107

Pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

CA377903758

rs_1564676479

1 SubmittersRCV000692365

NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)

SNV
Germline

Chr10:102597221

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667780

rs_761003435

4 SubmittersRCV000696738 RCV002440485 RCV003153812 RCV003460949

NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu)

SNV
Germline

Chr9:95447105

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137939

rs_146447673

3 SubmittersRCV000689524 RCV001021957

NM_000264.5(PTCH1):c.4094G>A (p.Cys1365Tyr)

SNV
Germline

Chr9:95447162

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110329

rs_1397510746

2 SubmittersRCV000690513 RCV002325374

NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)

SNV
Germline

Chr9:95447207

Conflicting classifications of pathogenicity

Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196558088

rs_978722722

6 SubmittersRCV000764836 RCV000699814 RCV001021745 RCV004547867 RCV004569359 RCV004997191

NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys)

SNV
Germline

Chr9:95449308

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138108

rs_767535853

4 SubmittersRCV000687148 RCV001020625 RCV003459669 RCV004768558

NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile)

SNV
Germline

Chr9:95449900

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Cataract
Disproportionate tall stature
Abnormal cardiovascular system morphology

Criteria Provided
Conflicting Classifications

CA5138127

rs_371346118

3 SubmittersRCV000697269 RCV001020429 RCV002245603

NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe)

SNV
Germline

Chr9:95458135

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138262

rs_374575067

2 SubmittersRCV000705943 RCV003303192

NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu)

SNV
Germline

Chr9:95468871

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138446

rs_774362306

3 SubmittersRCV000703655 RCV002422586 RCV003478438

NM_000264.5(PTCH1):c.938C>G (p.Ser313Ter)

SNV
Germline

Chr9:95480397

Pathogenic

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA374113623

rs_1564055259

2 SubmittersRCV000698999 RCV001196669

NM_000264.5(PTCH1):c.560G>A (p.Arg187His)

SNV
Germline

Chr9:95485709

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138923

rs_138034434

4 SubmittersRCV000705261 RCV000732073 RCV002257949

NM_000264.5(PTCH1):c.295G>T (p.Gly99Cys)

SNV
Germline

Chr9:95506506

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196553325

rs_1036074195

2 SubmittersRCV000707441 RCV002440554

NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val)

SNV
Germline

Chr9:95447198

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5137966

rs_777096311

3 SubmittersRCV000689113 RCV001021767 RCV003459676

NM_000264.5(PTCH1):c.3933G>T (p.Leu1311Phe)

SNV
Germline

Chr9:95447323

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137998

rs_761688859

2 SubmittersRCV000692022 RCV003303132

NM_000264.5(PTCH1):c.3607A>C (p.Ser1203Arg)

SNV
Germline

Chr9:95449266

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA374111308

rs_1564008885

4 SubmittersRCV000691991 RCV001020708 RCV005046937

NM_000264.5(PTCH1):c.3293T>C (p.Val1098Ala)

SNV
Germline

Chr9:95456289

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374111977

rs_1291842090

3 SubmittersRCV000690691 RCV002325376 RCV001356294

NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu)

SNV
Germline

Chr9:95469137

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
See cases
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138490

rs_765258547

6 SubmittersRCV001013443 RCV000685218 RCV002252215 RCV003231576 RCV004547851

NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)

SNV
Germline

Chr9:95485690

Pathogenic

Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374116569

rs_1333346461

2 SubmittersRCV000701045

NM_000264.5(PTCH1):c.431G>A (p.Arg144His)

SNV
Germline

Chr9:95485838

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA374117217

rs_1316474105

4 SubmittersRCV000698113 RCV001022287 RCV004737960

NM_000264.5(PTCH1):c.110G>A (p.Gly37Glu)

SNV
Germline

Chr9:95508252

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5139047

rs_748780206

2 SubmittersRCV002458197 RCV000685634

NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)

SNV
Germline

Chr10:102597207

Pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

CA377910484

rs_1564698683

1 SubmittersRCV000701195

NM_000264.5(PTCH1):c.4053C>A (p.Asn1351Lys)

SNV
Germline

Chr9:95447203

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110410

rs_1564005341

2 SubmittersRCV000686744 RCV004659163

NM_000264.5(PTCH1):c.3149C>T (p.Pro1050Leu)

SNV
Germline

Chr9:95458032

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112284

rs_1420175816

2 SubmittersRCV000694954 RCV001018810

NM_000264.5(PTCH1):c.2802T>G (p.Tyr934Ter)

SNV
Germline

Chr9:95459685

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113048

rs_1356231878

1 SubmittersRCV000706911

NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met)

SNV
Germline

Chr9:95469040

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138476

rs_746898855

3 SubmittersRCV000698032 RCV001013861 RCV003465602

NM_000264.5(PTCH1):c.1954C>T (p.His652Tyr)

SNV
Germline

Chr9:95469047

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196586878

rs_1035631674

2 SubmittersRCV000703670 RCV004026635

NM_000264.5(PTCH1):c.1903G>T (p.Asp635Tyr)

SNV
Germline

Chr9:95469098

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138484

rs_372555269

2 SubmittersRCV000695837 RCV001013633

NM_000264.5(PTCH1):c.1068C>T (p.Ser356=)

SNV
Germline

Chr9:95479147

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA196595042

rs_1051875027

3 SubmittersRCV000704390 RCV001017180 RCV005626167

NM_000264.5(PTCH1):c.873C>G (p.Tyr291Ter)

SNV
Germline

Chr9:95480462

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113925

rs_1564055606

1 SubmittersRCV000705881

NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu)

SNV
Germline

Chr9:95508291

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA5139059

rs_767973616

3 SubmittersRCV000690903 RCV002369856 RCV002469261

NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)

SNV
Germline

Chr10:102594037

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667761

rs_544734275

4 SubmittersRCV001026231 RCV000690225 RCV004760709 RCV003459681

NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)

SNV
Germline

Chr10:102597231

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667784

rs_763598499

3 SubmittersRCV000706362 RCV001017888 RCV004569390

NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)

SNV
Germline

Chr10:102627203

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667982

rs_772598739

2 SubmittersRCV000685264 RCV002386159

NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)

SNV
Germline

Chr10:102627225

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA377918835

rs_1564711403

2 SubmittersRCV000707192 RCV002386277

NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)

SNV
Germline

Chr9:95468942

Conflicting classifications of pathogenicity

Acute myeloid leukemia
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
not specified
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138457

rs_374691153

5 SubmittersRCV000761130 RCV001014267 RCV001168619 RCV001800865 RCV000805523

NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)

SNV
Germline

Chr9:95506598

Conflicting classifications of pathogenicity

Craniopharyngioma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5139001

rs_757430199

6 SubmittersRCV000761035 RCV001053046 RCV001014182 RCV002500986 RCV004997268

NM_000264.5(PTCH1):c.55G>A (p.Gly19Ser)

SNV
Germline

Chr9:95508307

Conflicting classifications of pathogenicity

Neuroblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5139065

rs_778460384

5 SubmittersRCV000761070 RCV002255517 RCV000828033 RCV001202675

NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)

SNV
Germline

Chr10:102627187

Conflicting classifications of pathogenicity

B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667979

rs_766370528

4 SubmittersRCV000761042 RCV001855935 RCV004027177 RCV003461019

NM_000264.5(PTCH1):c.4334G>A (p.Ser1445Asn)

SNV
Germline

Chr9:95446922

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137896

rs_770268061

2 SubmittersRCV000823266 RCV001022312

NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val)

SNV
Germline

Chr9:95446968

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196557368

rs_1043260017

4 SubmittersRCV000802305 RCV001022213 RCV004549877 RCV004997347

NM_000264.5(PTCH1):c.4249C>A (p.His1417Asn)

SNV
Germline

Chr9:95447007

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137913

rs_776235476

3 SubmittersRCV000809595 RCV001022129 RCV005411578

NM_000264.5(PTCH1):c.4087G>C (p.Gly1363Arg)

SNV
Germline

Chr9:95447169

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137956

rs_767625820

3 SubmittersRCV000809865 RCV002255167

NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly)

SNV
Germline

Chr9:95447307

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110610

rs_1482005246

2 SubmittersRCV000800138 RCV001021497

NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu)

SNV
Germline

Chr9:95447315

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Ovarian cancer
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374110621

rs_1400282737

4 SubmittersRCV000798946 RCV002352343 RCV003153839 RCV004997338

NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)

SNV
Germline

Chr9:95447327

Conflicting classifications of pathogenicity

Gorlin syndrome
Pituitary stalk interruption syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA374110646

rs_773043616

7 SubmittersRCV000817077 RCV001257287 RCV003317381 RCV002372312 RCV002507429

NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg)

SNV
Germline

Chr9:95447336

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138006

rs_181585555

3 SubmittersRCV000795914 RCV002325515 RCV003133610

NM_000264.5(PTCH1):c.3816C>A (p.Pro1272=)

SNV
Germline

Chr9:95447440

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466351859

rs_369295226

3 SubmittersRCV000792438 RCV002360912 RCV003478488

NM_000264.5(PTCH1):c.3814C>T (p.Pro1272Ser)

SNV
Germline

Chr9:95447442

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374110867

rs_1298467711

2 SubmittersRCV002352307 RCV000791841

NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg)

SNV
Germline

Chr9:95449115

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138069

rs_146390067

3 SubmittersRCV000811027 RCV001021062 RCV003478512

NM_000264.5(PTCH1):c.3737G>A (p.Gly1246Asp)

SNV
Germline

Chr9:95449136

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138076

rs_374011978

2 SubmittersRCV000798233 RCV002345768

NM_000264.5(PTCH1):c.3668C>T (p.Ser1223Leu)

SNV
Germline

Chr9:95449205

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138086

rs_769287098

2 SubmittersRCV000814539 RCV002453847

NM_000264.5(PTCH1):c.3574C>T (p.Arg1192Cys)

SNV
Germline

Chr9:95449299

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138106

rs_571420165

6 SubmittersRCV000811534 RCV001759567 RCV002256535 RCV003467453

NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser)

SNV
Germline

Chr9:95449308

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
not specified
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138109

rs_767535853

4 SubmittersRCV000804350 RCV001020624 RCV003321745 RCV004738017

NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)

SNV
Germline

Chr9:95453532

Pathogenic/Likely pathogenic

Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374111756

rs_1588528503

3 SubmittersRCV000800312 RCV001815437

NM_000264.5(PTCH1):c.3220A>G (p.Ile1074Val)

SNV
Germline

Chr9:95456362

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138207

rs_745626835

2 SubmittersRCV000811217 RCV002442714

NM_000264.5(PTCH1):c.3064A>C (p.Ile1022Leu)

SNV
Germline

Chr9:95458117

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112463

rs_1003711941

2 SubmittersRCV000793575 RCV001018401

NM_000264.5(PTCH1):c.2965G>T (p.Glu989Ter)

SNV
Germline

Chr9:95458216

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112684

rs_1472299295

1 SubmittersRCV000809211

NM_000264.5(PTCH1):c.2965G>A (p.Glu989Lys)

SNV
Germline

Chr9:95458216

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112686

rs_1472299295

2 SubmittersRCV000811432 RCV002440755

NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser)

SNV
Germline

Chr9:95458243

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138280

rs_778337760

2 SubmittersRCV000803696 RCV002440699

NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile)

SNV
Germline

Chr9:95459611

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138310

rs_776378611

2 SubmittersRCV000811060 RCV004944195

NM_000264.5(PTCH1):c.2839G>C (p.Glu947Gln)

SNV
Germline

Chr9:95459648

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138317

rs_768039033

2 SubmittersRCV000824169 RCV001016577

NM_000264.5(PTCH1):c.2812C>G (p.Gln938Glu)

SNV
Germline

Chr9:95459675

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138321

rs_778810550

3 SubmittersRCV000791981 RCV004997313 RCV004944141

NM_000264.5(PTCH1):c.2717G>A (p.Arg906His)

SNV
Germline

Chr9:95459770

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138333

rs_764310195

2 SubmittersRCV000799772 RCV002424843

NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr)

SNV
Germline

Chr9:95467148

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138393

rs_145217620

3 SubmittersRCV002477797 RCV001015843 RCV000791676

NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr)

SNV
Germline

Chr9:95467163

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374113854

rs_1220749812

3 SubmittersRCV000796436 RCV001015739 RCV004569542

NM_000264.5(PTCH1):c.2503G>T (p.Glu835Ter)

SNV
Germline

Chr9:95467173

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113897

rs_1588568595

1 SubmittersRCV000812907

NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)

SNV
Germline

Chr9:95467348

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374114587

rs_923429610

2 SubmittersRCV000795832 RCV001015201

NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln)

SNV
Germline

Chr9:95467367

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138414

rs_762942660

2 SubmittersRCV001015157 RCV000791507

NM_000264.5(PTCH1):c.2177C>A (p.Pro726His)

SNV
Germline

Chr9:95468824

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138439

rs_587780697

3 SubmittersRCV000795149 RCV002424815 RCV004760794

NM_000264.5(PTCH1):c.1999G>T (p.Glu667Ter)

SNV
Germline

Chr9:95469002

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115873

rs_1588574943

1 SubmittersRCV000824490

NM_000264.5(PTCH1):c.1900C>A (p.His634Asn)

SNV
Germline

Chr9:95469101

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374116086

rs_764218645

2 SubmittersRCV000807665 RCV002406804

NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln)

SNV
Germline

Chr9:95469855

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA374116307

rs_1382474804

3 SubmittersRCV000807208 RCV002406800 RCV004549882

NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile)

SNV
Germline

Chr9:95469925

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138523

rs_751708515

4 SubmittersRCV000816553 RCV001012947 RCV003424359 RCV004549895

NM_000264.5(PTCH1):c.1706C>A (p.Ala569Asp)

SNV
Germline

Chr9:95476056

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374117915

rs_766973191

1 SubmittersRCV000793246

NM_000264.5(PTCH1):c.1642G>A (p.Val548Met)

SNV
Germline

Chr9:95476120

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138592

rs_575035810

5 SubmittersRCV000797082 RCV003442080 RCV001012545 RCV004549874

NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg)

SNV
Germline

Chr9:95476137

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138599

rs_758673714

2 SubmittersRCV000798365 RCV003380721

NM_000264.5(PTCH1):c.1568G>C (p.Ser523Thr)

SNV
Germline

Chr9:95476793

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138620

rs_751778283

2 SubmittersRCV000802944 RCV001012174

NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)

SNV
Germline

Chr9:95476800

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138622

rs_781101191

3 SubmittersRCV000816206 RCV001012191

NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg)

SNV
Germline

Chr9:95476830

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118302

rs_1588598613

1 SubmittersRCV000824437

NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln)

SNV
Germline

Chr9:95476850

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118341

rs_1588598694

1 SubmittersRCV000797664

NM_000264.5(PTCH1):c.1225C>T (p.Gln409Ter)

SNV
Germline

Chr9:95478177

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118982

rs_1588603014

1 SubmittersRCV000813202

NM_000264.5(PTCH1):c.1198C>T (p.Gln400Ter)

SNV
Germline

Chr9:95479017

Pathogenic

Gorlin syndrome
Basal cell nevus syndrome 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374119242

rs_1588605348

4 SubmittersRCV000810777 RCV004796321 RCV004944193

NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr)

SNV
Germline

Chr9:95479023

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196594873

rs_937023804

2 SubmittersRCV000795548 RCV001010167

NM_000264.5(PTCH1):c.1161G>A (p.Trp387Ter)

SNV
Germline

Chr9:95479054

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119326

rs_1588605485

1 SubmittersRCV000798895

NM_000264.5(PTCH1):c.1067G>A (p.Ser356Asn)

SNV
Germline

Chr9:95479969

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138780

rs_764579762

3 SubmittersRCV000815413 RCV001017178 RCV003478517

NM_000264.5(PTCH1):c.1002T>G (p.Tyr334Ter)

SNV
Germline

Chr9:95480034

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119698

rs_145867500

1 SubmittersRCV000799834

NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe)

SNV
Germline

Chr9:95481967

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138870

rs_141265422

2 SubmittersRCV000794118 RCV001026233

NM_000264.5(PTCH1):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr9:95506518

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374120362

rs_1587693508

2 SubmittersRCV000820806 RCV001016748

NM_000264.5(PTCH1):c.155G>A (p.Arg52Gln)

SNV
Germline

Chr9:95508207

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5139034

rs_777207639

3 SubmittersRCV000807803 RCV002397653 RCV004723219

NM_000264.5(PTCH1):c.136G>C (p.Asp46His)

SNV
Germline

Chr9:95508226

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5139039

rs_760670294

3 SubmittersRCV000814674 RCV002381820 RCV004773189

NM_000264.5(PTCH1):c.112G>A (p.Gly38Arg)

SNV
Germline

Chr9:95508250

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196555628

rs_45574039

2 SubmittersRCV000805151 RCV005260413

NM_000264.5(PTCH1):c.77G>T (p.Arg26Leu)

SNV
Germline

Chr9:95508285

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374121468

rs_1181222222

3 SubmittersRCV000809957 RCV004569662 RCV003166288

NM_000264.5(PTCH1):c.74G>A (p.Gly25Glu)

SNV
Germline

Chr9:95508288

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5139058

rs_774712511

4 SubmittersRCV000823669 RCV001766753 RCV002256554

NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp)

SNV
Germline

Chr9:95508346

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA374121734

rs_1587701202

3 SubmittersRCV000806251 RCV002397641 RCV005047088

NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)

SNV
Germline

Chr10:102549981

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA377903009

rs_1171604398

3 SubmittersRCV000803289 RCV001019776 RCV004569599

NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)

SNV
Germline

Chr10:102597279

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667800

rs_374946819

3 SubmittersRCV000802775 RCV001018573 RCV004569594

NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)

SNV
Germline

Chr10:102599481

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667825

rs_753862598

2 SubmittersRCV000804706 RCV002370137

NM_016169.4(SUFU):c.979A>G (p.Ile327Val)

SNV
Germline

Chr10:102599501

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667828

rs_752846043

4 SubmittersRCV000793418 RCV001019760 RCV003238218 RCV004569518

NM_016169.4(SUFU):c.1010A>G (p.His337Arg)

SNV
Germline

Chr10:102599532

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667836

rs_377274250

3 SubmittersRCV000810951 RCV001016989 RCV003442099

NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)

SNV
Germline

Chr10:102599538

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667841

rs_369910221

4 SubmittersRCV000820866 RCV001009703 RCV003467501

NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)

SNV
Germline

Chr10:102615273

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667864

rs_79299301

3 SubmittersRCV000812889 RCV001017059 RCV004797879

NM_016169.4(SUFU):c.1280A>G (p.His427Arg)

SNV
Germline

Chr10:102617412

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667916

rs_771305734

5 SubmittersRCV000806151 RCV001010724 RCV003467415 RCV004777879

NM_000264.5(PTCH1):c.3168+5G>A

SNV
Germline

Chr9:95458008

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA915947092

rs_1588539525

1 SubmittersRCV000808584

NM_016169.4(SUFU):c.684-2A>G

SNV
Germline

Chr10:102593991

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377909686

rs_1590063305

1 SubmittersRCV000801738

NM_000264.5(PTCH1):c.3450-1G>A

SNV
Germline

Chr9:95449941

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111638

rs_1403732379

1 SubmittersRCV000819307

NM_000264.5(PTCH1):c.946-5T>A

SNV
Germline

Chr9:95480095

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915947076

rs_1588608882

3 SubmittersRCV000796658 RCV001766642 RCV003362943

NM_000264.5(PTCH1):c.946-5T>C

SNV
Germline

Chr9:95480095

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA915947075

rs_1588608882

2 SubmittersRCV000796328 RCV004659207

NM_016169.4(SUFU):c.597+1G>C

SNV
Germline

Chr10:102592725

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377908768

rs_1590062006

1 SubmittersRCV000824435

NM_000264.5(PTCH1):c.1504-3T>C

SNV
Germline

Chr9:95476860

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA915947058

rs_1588598721

2 SubmittersRCV000842500 RCV003768607

NM_000264.5(PTCH1):c.1193C>T (p.Ala398Val)

SNV
Germline

Chr9:95479022

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138749

rs_375098989

5 SubmittersRCV000985269 RCV001050779 RCV002345938 RCV004588306

NM_000264.5(PTCH1):c.1347+6G>T

SNV
Germline

Chr9:95478049

Conflicting classifications of pathogenicity

Craniosynostosis syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138697

rs_372655486

3 SubmittersRCV000985267 RCV001858517 RCV003478525

NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile)

SNV
Germline

Chr1:44826562

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA822862

rs_200873074

3 SubmittersRCV000862785 RCV004773206

NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)

SNV
Germline

Chr1:44828121

Conflicting classifications of pathogenicity

Gorlin syndrome
PTCH2-related disorder
not specified
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA823166

rs_147669300

5 SubmittersRCV000986295 RCV004549954 RCV005260462 RCV002495280

NM_003738.5(PTCH2):c.1016A>G (p.His339Arg)

SNV
Germline

Chr1:44829681

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA823464

rs_561823980

2 SubmittersRCV000869864 RCV004027763

NM_003738.5(PTCH2):c.14C>T (p.Pro5Leu)

SNV
Germline

Chr1:44842919

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA340111366

rs_1252822973

2 SubmittersRCV000875873 RCV005470551

NM_016169.4(SUFU):c.1122C>T (p.Asn374=)

SNV
Germline

Chr10:102615367

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471286404

rs_1590082264

3 SubmittersRCV001475450 RCV002434130 RCV003442129

NM_016169.4(SUFU):c.1366-8C>T

SNV
Germline

Chr10:102630058

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA595210468

rs_1212706214

2 SubmittersRCV000877709 RCV004761845

NM_000264.5(PTCH1):c.3204C>A (p.Phe1068Leu)

SNV
Germline

Chr9:95456378

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138214

rs_762419846

4 SubmittersRCV000882287 RCV001759663 RCV003169222 RCV005601633

NM_000264.5(PTCH1):c.357G>C (p.Ala119=)

SNV
Germline

Chr9:95506444

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196553130

rs_377575915

3 SubmittersRCV000920591 RCV001020655 RCV004997501

NM_000264.5(PTCH1):c.237G>A (p.Leu79=)

SNV
Germline

Chr9:95506564

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138996

rs_547602299

3 SubmittersRCV000921443 RCV001015326 RCV001495331

NM_000264.5(PTCH1):c.2325G>C (p.Leu775=)

SNV
Germline

Chr9:95467351

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196585886

rs_765736670

3 SubmittersRCV000934880 RCV002454126 RCV003478587

NM_016169.4(SUFU):c.37A>C (p.Thr13Pro)

SNV
Germline

Chr10:102504189

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Basal cell nevus syndrome 2
Medulloblastoma
Familial meningioma
Joubert syndrome 32

Criteria Provided
Conflicting Classifications

CA377886198

rs_1456048322

3 SubmittersRCV000988446 RCV003238258 RCV005392622

NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter)

SNV
Germline

Chr9:95480527

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114265

rs_1588610324

1 SubmittersRCV000995617

NM_000264.5(PTCH1):c.4022C>T (p.Pro1341Leu)

SNV
Germline

Chr9:95447234

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5137980

rs_748609458

2 SubmittersRCV001021692 RCV003769549

NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val)

SNV
Germline

Chr9:95447327

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138000

rs_773043616

3 SubmittersRCV001021458 RCV004726789 RCV002551839

NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu)

SNV
Germline

Chr9:95447351

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138012

rs_780042369

2 SubmittersRCV001021407 RCV001861021

NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg)

SNV
Germline

Chr9:95447370

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
PTCH1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138016

rs_372828014

4 SubmittersRCV001021353 RCV001058371 RCV004553559 RCV003478644

NM_000264.5(PTCH1):c.3655G>C (p.Asp1219His)

SNV
Germline

Chr9:95449218

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138090

rs_774833489

2 SubmittersRCV001020814 RCV001052415

NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val)

SNV
Germline

Chr9:95449250

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196566462

rs_914090288

3 SubmittersRCV001020749 RCV001035935 RCV004777923

NM_000264.5(PTCH1):c.3385G>C (p.Gly1129Arg)

SNV
Germline

Chr9:95453542

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374111775

rs_1588528637

2 SubmittersRCV001020155 RCV001070150

NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys)

SNV
Germline

Chr9:95453590

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138167

rs_758520331

4 SubmittersRCV001020024 RCV001049606 RCV001197547 RCV003478642

NM_000264.5(PTCH1):c.3325G>A (p.Gly1109Ser)

SNV
Germline

Chr9:95453602

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374111899

rs_1344231723

2 SubmittersRCV001019993 RCV001209398

NM_000264.5(PTCH1):c.2596G>A (p.Gly866Arg)

SNV
Germline

Chr9:95461963

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138362

rs_765578315

3 SubmittersRCV001015896 RCV001048280

NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln)

SNV
Germline

Chr9:95467328

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138408

rs_779296683

2 SubmittersRCV001015250 RCV001035027

NM_000264.5(PTCH1):c.2117G>C (p.Ser706Thr)

SNV
Germline

Chr9:95468884

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA196586706

rs_140497736

2 SubmittersRCV001014318 RCV001294862

NM_000264.5(PTCH1):c.2086A>G (p.Thr696Ala)

SNV
Germline

Chr9:95468915

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374115689

rs_1588574496

3 SubmittersRCV001014381 RCV001218660 RCV003132141

NM_000264.5(PTCH1):c.1997C>T (p.Thr666Met)

SNV
Germline

Chr9:95469004

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138467

rs_752043221

3 SubmittersRCV001014011 RCV001050319 RCV003319431

NM_000264.5(PTCH1):c.1955A>G (p.His652Arg)

SNV
Germline

Chr9:95469046

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374115967

rs_1420640611

3 SubmittersRCV001013830 RCV001245143 RCV005054310

NM_000264.5(PTCH1):c.1910C>T (p.Thr637Ile)

SNV
Germline

Chr9:95469091

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196586912

rs_369090032

4 SubmittersRCV001013661 RCV001067813 RCV003235446

NM_000264.5(PTCH1):c.1840T>G (p.Phe614Val)

SNV
Germline

Chr9:95469820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374116228

rs_1193948667

3 SubmittersRCV001013366 RCV001314518

NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)

SNV
Germline

Chr9:95476050

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138574

rs_377566861

4 SubmittersRCV001012810 RCV001169384 RCV001169383 RCV005054309

NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala)

SNV
Germline

Chr9:95476093

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138586

rs_772312984

2 SubmittersRCV001012649 RCV001041945

NM_000264.5(PTCH1):c.1666G>A (p.Val556Ile)

SNV
Germline

Chr9:95476096

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374118001

rs_1318405179

2 SubmittersRCV001012624 RCV001860715

NM_000264.5(PTCH1):c.1391A>G (p.Lys464Arg)

SNV
Germline

Chr9:95477659

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138661

rs_756171491

3 SubmittersRCV001011298 RCV001050012 RCV003886465

NM_000264.5(PTCH1):c.1376G>A (p.Arg459His)

SNV
Germline

Chr9:95477674

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138664

rs_140537949

2 SubmittersRCV001011232 RCV001035026

NM_000264.5(PTCH1):c.1223A>G (p.His408Arg)

SNV
Germline

Chr9:95478179

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138717

rs_763941524

2 SubmittersRCV001010409 RCV001206029

NM_000264.5(PTCH1):c.1099A>G (p.Met367Val)

SNV
Germline

Chr9:95479116

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138759

rs_753152792

2 SubmittersRCV001017285 RCV001350769

NM_000264.5(PTCH1):c.899C>T (p.Ala300Val)

SNV
Germline

Chr9:95480436

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374113804

rs_1421967825

3 SubmittersRCV001018598 RCV001226530 RCV003467650

NM_000264.5(PTCH1):c.875T>C (p.Met292Thr)

SNV
Germline

Chr9:95480460

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138831

rs_748727674

4 SubmittersRCV001018298 RCV001425612 RCV003334032

NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala)

SNV
Germline

Chr9:95485755

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374116848

rs_1244945859

2 SubmittersRCV001351025 RCV001023615

NM_000264.5(PTCH1):c.485C>G (p.Pro162Arg)

SNV
Germline

Chr9:95485784

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138934

rs_770046324

3 SubmittersRCV001023159 RCV001247643 RCV002285434

NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys)

SNV
Germline

Chr9:95506422

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138975

rs_774822170

3 SubmittersRCV001021175 RCV001861010 RCV003159173

NM_000264.5(PTCH1):c.361C>G (p.Leu121Val)

SNV
Germline

Chr9:95506440

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138978

rs_776424978

3 SubmittersRCV001020741 RCV002550863 RCV004569992

NM_000264.5(PTCH1):c.110G>C (p.Gly37Ala)

SNV
Germline

Chr9:95508252

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Breast carcinoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374121411

rs_748780206

4 SubmittersRCV001017327 RCV001205535 RCV001262185 RCV005423789

NM_000264.5(PTCH1):c.92G>A (p.Gly31Glu)

SNV
Germline

Chr9:95508270

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374121440

rs_1329331221

2 SubmittersRCV001019134 RCV001360062

NM_000264.5(PTCH1):c.70C>T (p.Pro24Ser)

SNV
Germline

Chr9:95508292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374121478

rs_1338078012

3 SubmittersRCV001026036 RCV001220944 RCV004761882

NM_000264.5(PTCH1):c.56G>A (p.Gly19Asp)

SNV
Germline

Chr9:95508306

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374121504

rs_587780708

3 SubmittersRCV001024426 RCV004590001 RCV001064996

NM_000264.5(PTCH1):c.28C>T (p.Pro10Ser)

SNV
Germline

Chr9:95508334

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374121635

rs_1587701162

3 SubmittersRCV001016910 RCV001819729 RCV001860847

NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)

SNV
Germline

Chr10:102597208

Pathogenic

Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA377910492

rs_1590065940

2 SubmittersRCV001027333 RCV001238662

NM_016169.4(SUFU):c.856G>A (p.Glu286Lys)

SNV
Germline

Chr10:102597239

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667787

rs_564728455

3 SubmittersRCV001018026 RCV001342190 RCV005232053

NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)

SNV
Germline

Chr10:102597278

Pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377910857

rs_1590066162

3 SubmittersRCV001018547 RCV001385139 RCV002462258

NM_016169.4(SUFU):c.941G>A (p.Arg314Lys)

SNV
Germline

Chr10:102599463

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5667822

rs_369741612

2 SubmittersRCV001019330 RCV001860944

NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)

SNV
Germline

Chr10:102599516

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5667831

rs_747125633

2 SubmittersRCV001019939 RCV001860965

NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn)

SNV
Germline

Chr10:102599534

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA5667838

rs_145082320

2 SubmittersRCV001016951 RCV001040898

NM_016169.4(SUFU):c.597+5G>A

SNV
Germline

Chr10:102592729

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA915947555

rs_1590062007

2 SubmittersRCV001024736 RCV002067678

NM_016169.4(SUFU):c.683+3G>A

SNV
Germline

Chr10:102593724

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Medulloblastoma
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA915947557

rs_1590062961

2 SubmittersRCV001025704 RCV003769610

NM_016169.4(SUFU):c.1297-5C>T

SNV
Germline

Chr10:102627170

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA595210003

rs_1275187815

2 SubmittersRCV001010815 RCV002549327

NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn)

SNV
Germline

Chr9:95468845

Conflicting classifications of pathogenicity

Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374115511

rs_1840282022

2 SubmittersRCV001034399

NM_000264.5(PTCH1):c.508C>G (p.Leu170Val)

SNV
Germline

Chr9:95485761

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374116869

rs_1841917213

3 SubmittersRCV001034149 RCV001772207 RCV002346234

NM_003738.5(PTCH2):c.1759G>A (p.Gly587Arg)

SNV
Germline

Chr1:44828142

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA823171

rs_375844056

3 SubmittersRCV001065089 RCV004030570 RCV005055153

NM_003738.5(PTCH2):c.1568C>T (p.Ala523Val)

SNV
Germline

Chr1:44828528

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA823271

rs_200216295

2 SubmittersRCV001049263 RCV004809008

NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser)

SNV
Germline

Chr9:95447332

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374110658

rs_762725821

3 SubmittersRCV001060300 RCV002374950 RCV003462584

NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His)

SNV
Germline

Chr9:95447336

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138004

rs_181585555

2 SubmittersRCV001068435 RCV002374985

NM_000264.5(PTCH1):c.3745G>C (p.Gly1249Arg)

SNV
Germline

Chr9:95449128

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138072

rs_769446796

3 SubmittersRCV001063565 RCV002365747 RCV003326534

NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys)

SNV
Germline

Chr9:95449167

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA5138082

rs_779844193

4 SubmittersRCV001054749 RCV002348408 RCV005005012 RCV004553598

NM_000264.5(PTCH1):c.3070C>G (p.Leu1024Val)

SNV
Germline

Chr9:95458111

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138257

rs_759405378

3 SubmittersRCV001060617 RCV002445318 RCV005394704

NM_000264.5(PTCH1):c.3054G>A (p.Trp1018Ter)

SNV
Germline

Chr9:95458127

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112489

rs_1839115028

1 SubmittersRCV001058347

NM_000264.5(PTCH1):c.3039C>A (p.Tyr1013Ter)

SNV
Germline

Chr9:95458142

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA5138264

rs_779388970

1 SubmittersRCV001067321

NM_000264.5(PTCH1):c.2429C>T (p.Ala810Val)

SNV
Germline

Chr9:95467247

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA374114214

rs_1228732568

3 SubmittersRCV001054722 RCV002451226 RCV004553597

NM_000264.5(PTCH1):c.2096G>T (p.Cys699Phe)

SNV
Germline

Chr9:95468905

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138448

rs_547829353

2 SubmittersRCV001036070 RCV002416332

NM_000264.5(PTCH1):c.1450G>A (p.Gly484Arg)

SNV
Germline

Chr9:95477600

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118480

rs_1841155526

1 SubmittersRCV001040288

NM_000264.5(PTCH1):c.1138G>T (p.Glu380Ter)

SNV
Germline

Chr9:95479077

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119380

rs_772903899

1 SubmittersRCV001069214

NM_000264.5(PTCH1):c.1043A>G (p.Lys348Arg)

SNV
Germline

Chr9:95479993

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
PTCH1-related disorder

Criteria Provided
Conflicting Classifications

CA374119608

rs_1476325987

5 SubmittersRCV001056045 RCV004998615 RCV003160451 RCV003462564 RCV004553601

NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp)

SNV
Germline

Chr9:95480572

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196532823

rs_925067209

2 SubmittersRCV001062611 RCV002393307

NM_000264.5(PTCH1):c.724C>T (p.Gln242Ter)

SNV
Germline

Chr9:95481971

Pathogenic/Likely pathogenic

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA374114833

rs_376353501

2 SubmittersRCV001038755 RCV005394664

NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu)

SNV
Germline

Chr9:95481971

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138871

rs_376353501

2 SubmittersRCV001053530 RCV002374920

NM_000264.5(PTCH1):c.347T>A (p.Leu116Ter)

SNV
Germline

Chr9:95506454

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120233

rs_1843652409

1 SubmittersRCV001043505

NM_000264.5(PTCH1):c.233G>A (p.Trp78Ter)

SNV
Germline

Chr9:95506568

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120649

rs_1843665508

1 SubmittersRCV001070250

NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg)

SNV
Germline

Chr9:95508255

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA374121414

rs_1449765833

3 SubmittersRCV001051483 RCV002416388 RCV004789383

NM_000264.5(PTCH1):c.28C>G (p.Pro10Ala)

SNV
Germline

Chr9:95508334

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374121632

rs_1587701162

2 SubmittersRCV001041013 RCV002436549

NM_016169.4(SUFU):c.109A>G (p.Ile37Val)

SNV
Germline

Chr10:102504261

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Familial meningioma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667594

rs_745793517

4 SubmittersRCV001057455 RCV002451239 RCV003462569 RCV004721731

NM_016169.4(SUFU):c.664C>G (p.Leu222Val)

SNV
Germline

Chr10:102593702

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Medulloblastoma
Familial meningioma
Joubert syndrome 32
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5667737

rs_765345575

3 SubmittersRCV001066850 RCV002365764 RCV002497467

NM_016169.4(SUFU):c.842C>T (p.Pro281Leu)

SNV
Germline

Chr10:102597225

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667782

rs_752387760

2 SubmittersRCV001069526 RCV002445360

NM_016169.4(SUFU):c.956A>G (p.Asn319Ser)

SNV
Germline

Chr10:102599478

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA377911081

rs_1479527039

3 SubmittersRCV001064814 RCV002379590 RCV004726858

NM_000264.5(PTCH1):c.3549+2T>G

SNV
Germline

Chr9:95449839

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111425

rs_1838303339

1 SubmittersRCV001047361

NM_000264.5(PTCH1):c.3450-1G>C

SNV
Germline

Chr9:95449941

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111637

rs_1403732379

1 SubmittersRCV001047917

NM_000264.5(PTCH1):c.1847+1G>A

SNV
Germline

Chr9:95469812

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374116210

rs_1840398430

1 SubmittersRCV001055427

NM_000264.5(PTCH1):c.1503+6A>G

SNV
Germline

Chr9:95477541

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA916081534

rs_1841148776

2 SubmittersRCV001045477 RCV004998597

NM_000264.5(PTCH1):c.395-8T>A

SNV
Germline

Chr9:95485882

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196537146

rs_755013836

2 SubmittersRCV001049866 RCV003478674

NM_000264.5(PTCH1):c.3550-2A>C

SNV
Germline

Chr9:95449325

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111424

rs_1838244368

1 SubmittersRCV001040660

NM_000264.5(PTCH1):c.*1132G>A

SNV
Germline

Chr9:95445261

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA196554165

rs_572803728

2 SubmittersRCV001169000 RCV001168999 RCV003425975

NM_000264.5(PTCH1):c.*450A>C

SNV
Germline

Chr9:95445943

Conflicting classifications of pathogenicity

Holoprosencephaly 7
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA196554936

rs_192994934

1 SubmittersRCV001169062 RCV001169063

NM_000264.5(PTCH1):c.2703+12G>A

SNV
Germline

Chr9:95461844

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7

Criteria Provided
Conflicting Classifications

CA868807613

rs_1295275193

2 SubmittersRCV001166845 RCV001166846

NM_016169.4(SUFU):c.1296+1635C>A

SNV
Germline

Chr10:102619063

Likely pathogenic

Gorlin syndrome

No Assertion Criteria Provided

CA212242963

rs_975490066

1 SubmittersRCV001175210

NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter)

SNV
Germline

Chr9:95467296

Pathogenic

Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374114420

rs_1840094606

2 SubmittersRCV001197759 RCV001389274

NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg)

SNV
Germline

Chr9:95449923

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374111597

rs_1838315058

3 SubmittersRCV005463302 RCV001219566

NM_000264.5(PTCH1):c.3328G>A (p.Asp1110Asn)

SNV
Germline

Chr9:95453599

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196571130

rs_911494100

2 SubmittersRCV001218101 RCV004034057

NM_000264.5(PTCH1):c.2198C>A (p.Ser733Ter)

SNV
Germline

Chr9:95468803

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115358

rs_1311804361

1 SubmittersRCV001225061

NM_000264.5(PTCH1):c.2080C>T (p.Gln694Ter)

SNV
Germline

Chr9:95468921

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115703

rs_1840292996

1 SubmittersRCV001225075

NM_000264.5(PTCH1):c.2063A>G (p.Gln688Arg)

SNV
Germline

Chr9:95468938

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138455

rs_751955563

2 SubmittersRCV001218868 RCV002418751

NM_000264.5(PTCH1):c.1972A>G (p.Met658Val)

SNV
Germline

Chr9:95469029

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374115928

rs_1448553293

4 SubmittersRCV001221948 RCV003462753 RCV004032431 RCV005423933

NM_000264.5(PTCH1):c.1681A>G (p.Met561Val)

SNV
Germline

Chr9:95476081

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374117966

rs_1332335605

2 SubmittersRCV001223051 RCV002402690

NM_000264.5(PTCH1):c.1627C>T (p.Arg543Cys)

SNV
Germline

Chr9:95476135

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138597

rs_137903539

4 SubmittersRCV001217324 RCV003329381 RCV002402650

NM_000264.5(PTCH1):c.779A>C (p.Asp260Ala)

SNV
Germline

Chr9:95480556

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138839

rs_368102115

2 SubmittersRCV001223719 RCV002411828

NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg)

SNV
Germline

Chr9:95480583

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138845

rs_754650075

2 SubmittersRCV004032375 RCV001219916

NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys)

SNV
Germline

Chr9:95447320

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374110631

rs_1360926879

2 SubmittersRCV002375174 RCV001213346

NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile)

SNV
Germline

Chr9:95459619

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138311

rs_761501958

2 SubmittersRCV001207684 RCV002436799

NM_000264.5(PTCH1):c.1554G>A (p.Leu518=)

SNV
Germline

Chr9:95476807

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466119188

rs_1841075494

2 SubmittersRCV001202726 RCV003163524

NM_000264.5(PTCH1):c.1097T>G (p.Leu366Ter)

SNV
Germline

Chr9:95479118

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119478

rs_1841329871

1 SubmittersRCV001208602

NM_000264.5(PTCH1):c.746+2T>G

SNV
Germline

Chr9:95481947

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114784

rs_1841568184

1 SubmittersRCV001212512

NM_000264.5(PTCH1):c.3449+10C>T

SNV
Germline

Chr9:95453468

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA196571002

rs_371546179

2 SubmittersRCV001214941 RCV003469366

NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly)

SNV
Germline

Chr9:95459635

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138315

rs_752126122

2 SubmittersRCV001230687 RCV004944913

NM_000264.5(PTCH1):c.2588G>A (p.Trp863Ter)

SNV
Germline

Chr9:95461971

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113530

rs_1839516520

1 SubmittersRCV001226680

NM_000264.5(PTCH1):c.2359G>T (p.Glu787Ter)

SNV
Germline

Chr9:95467317

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114494

rs_1840098608

1 SubmittersRCV001226614

NM_000264.5(PTCH1):c.983A>T (p.His328Leu)

SNV
Germline

Chr9:95480053

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374119741

rs_1484111496

2 SubmittersRCV001227825 RCV003294091

NM_000264.5(PTCH1):c.707G>A (p.Trp236Ter)

SNV
Germline

Chr9:95481988

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114874

rs_1841574026

1 SubmittersRCV001226192

NM_000264.5(PTCH1):c.680T>A (p.Leu227Ter)

SNV
Germline

Chr9:95482015

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114937

rs_1841576850

1 SubmittersRCV001230421

NM_000264.5(PTCH1):c.103C>T (p.Arg35Trp)

SNV
Germline

Chr9:95508259

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374121421

rs_1385550193

2 SubmittersRCV001238228 RCV004944937

NM_016169.4(SUFU):c.625C>T (p.His209Tyr)

SNV
Germline

Chr10:102593663

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667734

rs_770678862

3 SubmittersRCV001238659 RCV002256717

NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile)

SNV
Germline

Chr9:95447448

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196558722

rs_938997251

4 SubmittersRCV001546518 RCV001239647 RCV003469452 RCV002357022

NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg)

SNV
Germline

Chr9:95453521

Pathogenic/Likely pathogenic

Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374111739

rs_1838655420

2 SubmittersRCV001241702 RCV001586083

NM_000264.5(PTCH1):c.3128G>T (p.Cys1043Phe)

SNV
Germline

Chr9:95458053

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112329

rs_1345405015

2 SubmittersRCV001245055 RCV005262339

NM_000264.5(PTCH1):c.2771C>T (p.Thr924Met)

SNV
Germline

Chr9:95459716

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374113113

rs_1456450494

2 SubmittersRCV001243349 RCV002436957

NM_000264.5(PTCH1):c.2450A>G (p.His817Arg)

SNV
Germline

Chr9:95467226

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374114131

rs_1564030723

3 SubmittersRCV001247130 RCV002451606 RCV004774354

NM_000264.5(PTCH1):c.1012C>T (p.Gln338Ter)

SNV
Germline

Chr9:95480024

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119672

rs_1841404957

1 SubmittersRCV001239890

NM_000264.5(PTCH1):c.672C>A (p.Tyr224Ter)

SNV
Germline

Chr9:95482023

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374114955

rs_1588614178

2 SubmittersRCV001241345 RCV002375275

NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)

SNV
Germline

Chr10:102615366

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA377914345

rs_1265012285

3 SubmittersRCV001239456 RCV002436943 RCV003462812

NM_000264.5(PTCH1):c.1347+2T>C

SNV
Germline

Chr9:95478053

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118693

rs_1841214135

1 SubmittersRCV001225924

NM_000264.5(PTCH1):c.454A>G (p.Met152Val)

SNV
Germline

Chr9:95485815

Conflicting classifications of pathogenicity

Hereditary breast ovarian cancer syndrome
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138936

rs_766905791

3 SubmittersRCV001374516 RCV001880015 RCV004035390

NM_000264.5(PTCH1):c.1348-1G>A

SNV
Germline

Chr9:95477703

Pathogenic

Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374118689

rs_1841170844

2 SubmittersRCV001267647

NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly)

SNV
Germline

Chr9:95447223

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137973

rs_556901417

2 SubmittersRCV001307984 RCV002357119

NM_000264.5(PTCH1):c.3857C>A (p.Pro1286His)

SNV
Germline

Chr9:95447399

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA374110778

rs_1278213544

3 SubmittersRCV002357094 RCV001299733 RCV005040142

NM_000264.5(PTCH1):c.3676A>G (p.Ser1226Gly)

SNV
Germline

Chr9:95449197

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196566280

rs_890755179

2 SubmittersRCV001299099 RCV005262359

NM_000264.5(PTCH1):c.1087A>G (p.Met363Val)

SNV
Germline

Chr9:95479128

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374119504

rs_1342698215

4 SubmittersRCV001299873 RCV002430099 RCV003222293

NM_000264.5(PTCH1):c.1056A>G (p.Gly352=)

SNV
Germline

Chr9:95479980

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466123053

rs_1841396845

2 SubmittersRCV001298209 RCV005262358

NM_000264.5(PTCH1):c.1004T>C (p.Met335Thr)

SNV
Germline

Chr9:95480032

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138789

rs_749049752

2 SubmittersRCV001306300 RCV004671328

NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly)

SNV
Germline

Chr9:95480457

Conflicting classifications of pathogenicity

Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138829

rs_768095469

3 SubmittersRCV003462863 RCV004944972 RCV001300250

NM_000264.5(PTCH1):c.654+4T>C

SNV
Germline

Chr9:95482130

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138888

rs_758839801

2 SubmittersRCV001305673 RCV004944984

NM_000264.5(PTCH1):c.155G>C (p.Arg52Pro)

SNV
Germline

Chr9:95508207

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374121337

rs_777207639

4 SubmittersRCV001308455 RCV002402865 RCV003462880 RCV004590313

NM_016169.4(SUFU):c.316G>A (p.Glu106Lys)

SNV
Germline

Chr10:102509302

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA212240691

rs_1040654062

2 SubmittersRCV001303534 RCV002322203

NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg)

SNV
Germline

Chr9:95447429

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110842

rs_1445693994

2 SubmittersRCV001319364 RCV002357142

NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser)

SNV
Germline

Chr9:95461944

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138360

rs_769029578

4 SubmittersRCV001324152 RCV004656525 RCV004998824

NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)

SNV
Germline

Chr9:95482028

Conflicting classifications of pathogenicity

Gorlin syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374114966

rs_1266754583

3 SubmittersRCV001316125 RCV002486240 RCV003294269

NM_000264.5(PTCH1):c.127G>A (p.Ala43Thr)

SNV
Germline

Chr9:95508235

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5139042

rs_766536174

2 SubmittersRCV001324229 RCV002384430

NM_016169.4(SUFU):c.305A>G (p.Asn102Ser)

SNV
Germline

Chr10:102509291

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5667644

rs_146181245

2 SubmittersRCV001325071 RCV003294297

NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys)

SNV
Germline

Chr9:95449220

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374111215

rs_1167693193

3 SubmittersRCV001346251 RCV002350637 RCV004774417

NM_000264.5(PTCH1):c.3180G>A (p.Leu1060=)

SNV
Germline

Chr9:95456402

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138221

rs_757268536

3 SubmittersRCV001337962 RCV002255183 RCV002322270

NM_000264.5(PTCH1):c.2801A>T (p.Tyr934Phe)

SNV
Germline

Chr9:95459686

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374113050

rs_1209943415

2 SubmittersRCV001347085 RCV003294364

NM_000264.5(PTCH1):c.2532G>C (p.Trp844Cys)

SNV
Germline

Chr9:95467144

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113767

rs_1840077192

1 SubmittersRCV001340501

NM_000264.5(PTCH1):c.1742T>C (p.Val581Ala)

SNV
Germline

Chr9:95469918

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138522

rs_777030659

2 SubmittersRCV001350706 RCV002404832

NM_000264.5(PTCH1):c.956T>C (p.Met319Thr)

SNV
Germline

Chr9:95480080

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196595887

rs_867609005

2 SubmittersRCV001351946 RCV002384493

NM_000264.5(PTCH1):c.920C>T (p.Thr307Ile)

SNV
Germline

Chr9:95480415

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374113682

rs_1255733467

3 SubmittersRCV001339359 RCV003169602 RCV004774413

NM_000264.5(PTCH1):c.658A>G (p.Ile220Val)

SNV
Germline

Chr9:95482037

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138874

rs_768776930

2 SubmittersRCV001339251 RCV002377438

NM_000264.5(PTCH1):c.350A>G (p.Lys117Arg)

SNV
Germline

Chr9:95506451

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374120225

rs_1234085004

3 SubmittersRCV001344768 RCV002341711 RCV004570831

NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)

SNV
Germline

Chr10:102504220

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA377886338

rs_2062290972

2 SubmittersRCV001337733 RCV002377432

NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)

SNV
Germline

Chr10:102599465

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial meningioma

Criteria Provided
Conflicting Classifications

CA5667823

rs_141737156

4 SubmittersRCV001342411 RCV002447404 RCV004998836 RCV003462908

NM_016169.4(SUFU):c.1365+1G>A

SNV
Germline

Chr10:102627244

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377918877

rs_2063794106

1 SubmittersRCV001346789

NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)

SNV
Germline

Chr10:102630088

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5668002

rs_147404195

2 SubmittersRCV001344759 RCV004951574

NM_000264.5(PTCH1):c.4085C>T (p.Pro1362Leu)

SNV
Germline

Chr9:95447171

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137958

rs_777731495

2 SubmittersRCV001369826 RCV004037095

NM_000264.5(PTCH1):c.4052A>G (p.Asn1351Ser)

SNV
Germline

Chr9:95447204

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110413

rs_1588510932

2 SubmittersRCV001372903 RCV002322357

NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)

SNV
Germline

Chr9:95447237

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374110462

rs_1218728112

4 SubmittersRCV001366838 RCV002357247 RCV003469606 RCV003317488

NM_000264.5(PTCH1):c.3276A>G (p.Ile1092Met)

SNV
Germline

Chr9:95456306

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112014

rs_1227312736

3 SubmittersRCV001366724 RCV002255653

NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val)

SNV
Germline

Chr9:95456400

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374112205

rs_1409913416

2 SubmittersRCV001370413 RCV004037471

NM_000264.5(PTCH1):c.2593A>G (p.Thr865Ala)

SNV
Germline

Chr9:95461966

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374113517

rs_1186399866

3 SubmittersRCV001365480 RCV003169844 RCV004779099

NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys)

SNV
Germline

Chr9:95467136

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA374113739

rs_1352235060

3 SubmittersRCV001368936 RCV004656574 RCV005040221

NM_000264.5(PTCH1):c.574A>G (p.Met192Val)

SNV
Germline

Chr9:95485695

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138921

rs_763513784

2 SubmittersRCV001367338 RCV004037003

NM_000264.5(PTCH1):c.187G>C (p.Glu63Gln)

SNV
Germline

Chr9:95508175

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5139031

rs_781768965

2 SubmittersRCV001365755 RCV004036950

NM_000264.5(PTCH1):c.95G>C (p.Arg32Thr)

SNV
Germline

Chr9:95508267

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5139052

rs_746923835

2 SubmittersRCV001373267 RCV003298619

NM_000264.5(PTCH1):c.83C>T (p.Ala28Val)

SNV
Germline

Chr9:95508279

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374121456

rs_1220641430

2 SubmittersRCV001371563 RCV004945097

NM_016169.4(SUFU):c.882C>T (p.Gly294=)

SNV
Germline

Chr10:102597265

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471300411

rs_2135882176

3 SubmittersRCV001374083 RCV002447496 RCV004762135

NM_000264.5(PTCH1):c.3307-1G>A

SNV
Germline

Chr9:95453621

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111939

rs_2136632449

1 SubmittersRCV001379827

NM_000264.5(PTCH1):c.1660A>C (p.Ser554Arg)

SNV
Germline

Chr9:95476102

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118014

rs_1060502282

1 SubmittersRCV001377522

NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg)

SNV
Germline

Chr9:95506416

Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374120150

rs_2118873547

2 SubmittersRCV001379056 RCV002357284

NM_016169.4(SUFU):c.683+1G>A

SNV
Germline

Chr10:102593722

Likely pathogenic

Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA377909661

rs_2135870923

2 SubmittersRCV001377148 RCV004998863

NM_000264.5(PTCH1):c.3450-2A>C

SNV
Germline

Chr9:95449942

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111640

rs_863224443

1 SubmittersRCV001388922

NM_000264.5(PTCH1):c.3277G>A (p.Gly1093Arg)

SNV
Germline

Chr9:95456305

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112013

rs_2136647822

1 SubmittersRCV001387760

NM_000264.5(PTCH1):c.3058C>T (p.Gln1020Ter)

SNV
Germline

Chr9:95458123

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112477

rs_1839114207

1 SubmittersRCV001382542

NM_000264.5(PTCH1):c.3053G>A (p.Trp1018Ter)

SNV
Germline

Chr9:95458128

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112493

rs_2136660954

1 SubmittersRCV001387761

NM_000264.5(PTCH1):c.2844G>A (p.Trp948Ter)

SNV
Germline

Chr9:95459643

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112963

rs_2136670613

1 SubmittersRCV001387217

NM_000264.5(PTCH1):c.2713C>T (p.Gln905Ter)

SNV
Germline

Chr9:95459774

Pathogenic

Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374113241

rs_864622088

2 SubmittersRCV001387765 RCV004699360

NM_000264.5(PTCH1):c.2493T>A (p.Tyr831Ter)

SNV
Germline

Chr9:95467183

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113938

rs_2117951765

1 SubmittersRCV001386623

NM_000264.5(PTCH1):c.2107G>T (p.Glu703Ter)

SNV
Germline

Chr9:95468894

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115643

rs_2118037130

1 SubmittersRCV001388169

NM_000264.5(PTCH1):c.1847+2T>G

SNV
Germline

Chr9:95469811

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374116206

rs_2118088248

1 SubmittersRCV001383116

NM_000264.5(PTCH1):c.1603-1G>A

SNV
Germline

Chr9:95476160

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118133

rs_2118262541

1 SubmittersRCV001381290

NM_000264.5(PTCH1):c.1526G>T (p.Gly509Val)

SNV
Germline

Chr9:95476835

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118309

rs_1060502268

1 SubmittersRCV001380596

NM_000264.5(PTCH1):c.1525G>C (p.Gly509Arg)

SNV
Germline

Chr9:95476836

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118312

rs_2118285458

1 SubmittersRCV001385524

NM_000264.5(PTCH1):c.1338C>A (p.Tyr446Ter)

SNV
Germline

Chr9:95478064

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118719

rs_2118329441

1 SubmittersRCV001383785

NM_000264.5(PTCH1):c.1237C>T (p.Gln413Ter)

SNV
Germline

Chr9:95478165

Pathogenic

Gorlin syndrome
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA374118934

rs_2118338419

2 SubmittersRCV001385521 RCV004584439

NM_000264.5(PTCH1):c.1068-2A>G

SNV
Germline

Chr9:95479149

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119549

rs_1060502271

1 SubmittersRCV001381725

NM_000264.5(PTCH1):c.1067+1G>T

SNV
Germline

Chr9:95479968

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119553

rs_2118387075

1 SubmittersRCV001388489

NM_000264.5(PTCH1):c.912C>A (p.Cys304Ter)

SNV
Germline

Chr9:95480423

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113724

rs_2118414186

1 SubmittersRCV001385738

NM_000264.5(PTCH1):c.834G>A (p.Trp278Ter)

SNV
Germline

Chr9:95480501

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374114121

rs_2118420718

2 SubmittersRCV001384524 RCV005465489

NM_000264.5(PTCH1):c.747-1G>A

SNV
Germline

Chr9:95480589

Pathogenic/Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374114668

rs_2118429101

2 SubmittersRCV001383948 RCV005465488

NM_000264.5(PTCH1):c.722T>G (p.Leu241Ter)

SNV
Germline

Chr9:95481973

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114839

rs_2118461277

1 SubmittersRCV001390422

NM_000264.5(PTCH1):c.654+1G>A

SNV
Germline

Chr9:95482133

Pathogenic

Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374115006

rs_2118471978

2 SubmittersRCV001380134

NM_000264.5(PTCH1):c.591G>A (p.Trp197Ter)

SNV
Germline

Chr9:95482197

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115155

rs_1841597665

1 SubmittersRCV001384868

NM_000264.5(PTCH1):c.584G>A (p.Arg195Lys)

SNV
Germline

Chr9:95485685

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374116547

rs_1554702009

1 SubmittersRCV001390423

NM_000264.5(PTCH1):c.466C>T (p.Gln156Ter)

SNV
Germline

Chr9:95485803

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374117061

rs_2118546196

1 SubmittersRCV001390137

NM_000264.5(PTCH1):c.379G>T (p.Glu127Ter)

SNV
Germline

Chr9:95506422

Pathogenic

Gorlin syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA374120162

rs_774822170

2 SubmittersRCV001390424 RCV004789569

NM_000264.5(PTCH1):c.376G>T (p.Glu126Ter)

SNV
Germline

Chr9:95506425

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120169

rs_2118874002

1 SubmittersRCV001381984

NM_000264.5(PTCH1):c.202-1G>C

SNV
Germline

Chr9:95506600

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120774

rs_2118881561

1 SubmittersRCV001384122

NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)

SNV
Germline

Chr10:102550060

Pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377903493

rs_2135743382

1 SubmittersRCV001384999

NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)

SNV
Germline

Chr10:102593675

Pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377909498

rs_907135467

1 SubmittersRCV001380113

NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn)

SNV
Germline

Chr1:44828111

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Basal cell carcinoma, susceptibility to, 1
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA823164

rs_201345708

3 SubmittersRCV001418769 RCV004038158 RCV005023159

NM_000264.5(PTCH1):c.1110G>A (p.Lys370=)

SNV
Germline

Chr9:95479105

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138757

rs_758977865

3 SubmittersRCV001407414 RCV002438940 RCV004998875

NM_016169.4(SUFU):c.1023-6T>C

SNV
Germline

Chr10:102615262

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1932751371

rs_2063672832

2 SubmittersRCV001404602 RCV004998873

NM_000264.5(PTCH1):c.655-5G>T

SNV
Germline

Chr9:95482045

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138875

rs_776683312

4 SubmittersRCV001446624 RCV002368377 RCV004550182 RCV004998903

NM_000264.5(PTCH1):c.150G>T (p.Leu50=)

SNV
Germline

Chr9:95508212

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1
Holoprosencephaly 7
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA466107501

rs_1172557603

3 SubmittersRCV001435494 RCV002395999 RCV005040284

NM_016169.4(SUFU):c.45C>T (p.Pro15=)

SNV
Germline

Chr10:102504197

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667583

rs_767543227

3 SubmittersRCV001427876 RCV002341927 RCV004770151

NM_016169.4(SUFU):c.1419C>T (p.Ile473=)

SNV
Germline

Chr10:102630119

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA471287342

rs_1342217589

3 SubmittersRCV001430554 RCV002395987 RCV004998893

NM_003738.5(PTCH2):c.2420G>A (p.Arg807His)

SNV
Germline

Chr1:44827261

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA823007

rs_199959462

2 SubmittersRCV001470054 RCV004037098

NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=)

SNV
Germline

Chr9:95447269

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5137987

rs_539319573

3 SubmittersRCV001474169 RCV003298828 RCV003442884

NM_000264.5(PTCH1):c.3264T>A (p.Ala1088=)

SNV
Germline

Chr9:95456318

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466109164

rs_1361137530

3 SubmittersRCV001474616 RCV001820168 RCV002449260

NM_016169.4(SUFU):c.27C>A (p.Ala9=)

SNV
Germline

Chr10:102504179

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA471304786

rs_1244167364

3 SubmittersRCV001458686 RCV002256783

NM_016169.4(SUFU):c.911-8C>T

SNV
Germline

Chr10:102599425

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667815

rs_771361493

2 SubmittersRCV001477648 RCV003311995

NM_000264.5(PTCH1):c.4242G>A (p.Val1414=)

SNV
Germline

Chr9:95447014

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466105087

rs_1390378010

3 SubmittersRCV001482053 RCV005465508 RCV004998924

NM_000264.5(PTCH1):c.3000C>T (p.Asn1000=)

SNV
Germline

Chr9:95458181

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466352074

rs_2136661651

2 SubmittersRCV001498699 RCV005262513

NM_000264.5(PTCH1):c.2031C>T (p.Thr677=)

SNV
Germline

Chr9:95468970

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466352513

rs_2118044176

3 SubmittersRCV001491341 RCV004998929 RCV003160985

NM_016169.4(SUFU):c.1362G>A (p.Glu454=)

SNV
Germline

Chr10:102627240

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5667985

rs_771380823

4 SubmittersRCV001502753 RCV002256811 RCV003478863

NM_000264.5(PTCH1):c.2531G>C (p.Trp844Ser)

SNV
Germline

Chr9:95467145

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113774

rs_2117947811

1 SubmittersRCV001733427

NM_000264.5(PTCH1):c.311T>C (p.Val104Ala)

SNV
Germline

Chr9:95506490

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138988

rs_746275162

3 SubmittersRCV001762986 RCV003120661 RCV002324176

NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn)

SNV
Germline

Chr9:95468763

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138431

rs_776817244

3 SubmittersRCV001770956 RCV001882874 RCV003382637

NM_000264.5(PTCH1):c.2251-2A>C

SNV
Germline

Chr9:95467427

Pathogenic

Gorlin syndrome

No Assertion Criteria Provided

CA374114779

rs_2117976305

1 SubmittersRCV001806460

NM_000264.5(PTCH1):c.4179C>T (p.Pro1393=)

SNV
Germline

Chr9:95447077

Conflicting classifications of pathogenicity

not specified
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA466351334

rs_1057521043

2 SubmittersRCV001822702 RCV003772336

NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)

SNV
Germline

Chr9:95477547

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374118368

rs_1085307511

2 SubmittersRCV001840877 RCV003609195

NM_000264.5(PTCH1):c.529C>T (p.Gln177Ter)

SNV
Germline

Chr9:95485740

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374116806

rs_2118540467

1 SubmittersRCV001874443

NM_000264.5(PTCH1):c.2777G>C (p.Trp926Ser)

SNV
Germline

Chr9:95459710

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113102

rs_2136672063

1 SubmittersRCV002024259

NM_000264.5(PTCH1):c.832T>G (p.Trp278Gly)

SNV
Germline

Chr9:95480503

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374114132

rs_1219459429

3 SubmittersRCV001918820 RCV002441025 RCV004762240

NM_016169.4(SUFU):c.317+1G>A

SNV
Germline

Chr10:102509304

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377889284

rs_2135621012

1 SubmittersRCV001989389

NM_000264.5(PTCH1):c.1693A>G (p.Ile565Val)

SNV
Germline

Chr9:95476069

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138581

rs_778170244

2 SubmittersRCV001974180 RCV003170326

NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr)

SNV
Germline

Chr9:95467209

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138397

rs_370915763

3 SubmittersRCV001912705 RCV002458756 RCV002254971

NM_000264.5(PTCH1):c.1503+2T>C

SNV
Germline

Chr9:95477545

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118364

rs_2118302461

1 SubmittersRCV001963725

NM_000264.5(PTCH1):c.3472A>C (p.Ile1158Leu)

SNV
Germline

Chr9:95449918

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138132

rs_368636457

3 SubmittersRCV001945176 RCV004809697 RCV002334882

NM_000264.5(PTCH1):c.2704T>C (p.Leu902=)

SNV
Germline

Chr9:95459783

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466112015

rs_1348603148

2 SubmittersRCV001872076 RCV002440926

NM_016169.4(SUFU):c.318-1G>C

SNV
Germline

Chr10:102549969

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377902943

rs_2135742927

1 SubmittersRCV001968949

NM_000264.5(PTCH1):c.709G>A (p.Glu237Lys)

SNV
Germline

Chr9:95481986

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114868

rs_2118462668

1 SubmittersRCV002015437

NM_000264.5(PTCH1):c.386G>A (p.Trp129Ter)

SNV
Germline

Chr9:95506415

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374120148

rs_2118873472

2 SubmittersRCV001999756 RCV004044349

NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr10:102504309

Pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377886692

rs_2135598685

1 SubmittersRCV001939385

NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp)

SNV
Germline

Chr9:95459663

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138318

rs_756465236

2 SubmittersRCV001993805 RCV004656793

NM_000264.5(PTCH1):c.2532G>T (p.Trp844Cys)

SNV
Germline

Chr9:95467144

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113771

rs_1840077192

1 SubmittersRCV001953154

NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=)

SNV
Germline

Chr1:44823156

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA822741

rs_752886480

2 SubmittersRCV001917426 RCV005016754

NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala)

SNV
Germline

Chr9:95469020

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138473

rs_753850577

4 SubmittersRCV002050008 RCV003164010 RCV004771509 RCV004779149

NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)

SNV
Germline

Chr10:102597269

Pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377910819

rs_2135882212

1 SubmittersRCV001964809

NM_000264.5(PTCH1):c.349A>T (p.Lys117Ter)

SNV
Germline

Chr9:95506452

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120226

rs_2118875526

1 SubmittersRCV001950893

NM_000264.5(PTCH1):c.4044C>G (p.Asn1348Lys)

SNV
Germline

Chr9:95447212

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374110424

rs_1412873206

3 SubmittersRCV002018221 RCV002324489 RCV003471271

NM_000264.5(PTCH1):c.1817G>A (p.Arg606Lys)

SNV
Germline

Chr9:95469843

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138515

rs_748991295

2 SubmittersRCV001883392 RCV002406979

NM_000264.5(PTCH1):c.2699G>A (p.Ser900Asn)

SNV
Germline

Chr9:95461860

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138352

rs_762152128

2 SubmittersRCV001898296 RCV003166994

NM_000264.5(PTCH1):c.764G>T (p.Arg255Leu)

SNV
Germline

Chr9:95480571

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374114550

rs_779870576

2 SubmittersRCV002042733 RCV003303614

NM_000264.5(PTCH1):c.2590G>T (p.Glu864Ter)

SNV
Germline

Chr9:95461969

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113524

rs_2136689297

1 SubmittersRCV001912530

NM_000264.5(PTCH1):c.3371C>T (p.Ala1124Val)

SNV
Germline

Chr9:95453556

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138163

rs_374187104

2 SubmittersRCV001901694 RCV002458770

NM_000264.5(PTCH1):c.3487G>C (p.Gly1163Arg)

SNV
Germline

Chr9:95449903

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111560

rs_113663584

1 SubmittersRCV002048633

NM_000264.5(PTCH1):c.2530T>C (p.Trp844Arg)

SNV
Germline

Chr9:95467146

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113780

rs_2117947928

1 SubmittersRCV002047987

NM_000264.5(PTCH1):c.1120G>T (p.Glu374Ter)

SNV
Germline

Chr9:95479095

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119423

rs_144323077

1 SubmittersRCV001874635

NM_000264.5(PTCH1):c.166T>G (p.Cys56Gly)

SNV
Germline

Chr9:95508196

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374121313

rs_1340609158

2 SubmittersRCV001903296 RCV002397864

NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr)

SNV
Germline

Chr9:95467304

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Basal cell carcinoma, susceptibility to, 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374114445

rs_1564030910

4 SubmittersRCV001946088 RCV003886536 RCV004571650 RCV005465626

NM_016169.4(SUFU):c.182+3A>C

SNV
Germline

Chr10:102504337

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA2573145484

rs_1589970228

1 SubmittersRCV001972212

NM_000264.5(PTCH1):c.1503+1G>T

SNV
Germline

Chr9:95477546

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118367

rs_864622293

1 SubmittersRCV001990900

NM_016169.4(SUFU):c.183-2A>C

SNV
Germline

Chr10:102509167

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377888063

rs_2135619894

1 SubmittersRCV001990795

NM_016169.4(SUFU):c.182+1G>A

SNV
Germline

Chr10:102504335

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377886817

rs_2135598885

1 SubmittersRCV002035931

NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val)

SNV
Germline

Chr9:95449909

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138129

rs_202102540

2 SubmittersRCV002001828 RCV002458844

NM_000264.5(PTCH1):c.2212A>T (p.Lys738Ter)

SNV
Germline

Chr9:95468789

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115305

rs_2118026370

1 SubmittersRCV001866649

NM_000264.5(PTCH1):c.4331G>A (p.Ser1444Asn)

SNV
Germline

Chr9:95446925

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374109799

rs_1347860599

2 SubmittersRCV002018861 RCV005264141

NM_000264.5(PTCH1):c.1691T>A (p.Leu564Ter)

SNV
Germline

Chr9:95476071

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374117944

rs_2118251139

1 SubmittersRCV001906202

NM_000264.5(PTCH1):c.1262C>G (p.Ser421Cys)

SNV
Germline

Chr9:95478140

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374118876

rs_1285775586

2 SubmittersRCV002009324 RCV003303631

NM_000264.5(PTCH1):c.3904C>T (p.Pro1302Ser)

SNV
Germline

Chr9:95447352

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138013

rs_747093389

2 SubmittersRCV001933699 RCV004041796

NM_000264.5(PTCH1):c.3196G>T (p.Glu1066Ter)

SNV
Germline

Chr9:95456386

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112177

rs_1838929775

1 SubmittersRCV001939603

NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser)

SNV
Germline

Chr9:95447313

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137996

rs_746022197

2 SubmittersRCV001957615 RCV004671536

NM_000264.5(PTCH1):c.3168+1G>T

SNV
Germline

Chr9:95458012

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112242

rs_2136659660

1 SubmittersRCV001951204

NM_000264.5(PTCH1):c.3055G>T (p.Glu1019Ter)

SNV
Germline

Chr9:95458126

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112485

rs_2136660921

1 SubmittersRCV001953454

NM_000264.5(PTCH1):c.4039C>T (p.His1347Tyr)

SNV
Germline

Chr9:95447217

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5137971

rs_760724368

2 SubmittersRCV001883005 RCV005472965

NM_000264.5(PTCH1):c.2766C>A (p.Tyr922Ter)

SNV
Germline

Chr9:95459721

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113125

rs_1554691698

1 SubmittersRCV001888912

NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)

SNV
Germline

Chr10:102509233

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome
Familial meningioma

Criteria Provided
Conflicting Classifications

CA377888679

rs_2135620366

3 SubmittersRCV001883219 RCV002449515 RCV004571478

NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)

SNV
Germline

Chr10:102599479

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA212269224

rs_535845342

2 SubmittersRCV001879546 RCV004946802

NM_000264.5(PTCH1):c.373G>A (p.Val125Met)

SNV
Germline

Chr9:95506428

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138976

rs_760253622

2 SubmittersRCV001930757 RCV002344029

NM_000264.5(PTCH1):c.1027G>A (p.Val343Met)

SNV
Germline

Chr9:95480009

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374119638

rs_1564054554

2 SubmittersRCV001941448 RCV004945825

NM_000264.5(PTCH1):c.1896C>A (p.Asp632Glu)

SNV
Germline

Chr9:95469105

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374116094

rs_2118057608

2 SubmittersRCV001952950 RCV002407142

NM_000264.5(PTCH1):c.1460T>G (p.Leu487Arg)

SNV
Germline

Chr9:95477590

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118460

rs_2118304794

1 SubmittersRCV001996058

NM_000264.5(PTCH1):c.347T>G (p.Leu116Ter)

SNV
Germline

Chr9:95506454

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120231

rs_1843652409

1 SubmittersRCV001953617

NM_000264.5(PTCH1):c.3479C>G (p.Thr1160Ser)

SNV
Germline

Chr9:95449911

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138130

rs_147633236

2 SubmittersRCV001959946 RCV002458836

NM_000264.5(PTCH1):c.3088C>G (p.Leu1030Val)

SNV
Germline

Chr9:95458093

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196574824

rs_1040729718

2 SubmittersRCV001944097 RCV002324359

NM_000264.5(PTCH1):c.573C>A (p.Tyr191Ter)

SNV
Germline

Chr9:95485696

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374116602

rs_1249050389

1 SubmittersRCV001883806

NM_000264.5(PTCH1):c.3034G>A (p.Gly1012Ser)

SNV
Germline

Chr9:95458147

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138265

rs_187813269

4 SubmittersRCV001947964 RCV002441036 RCV003228025

NM_000264.5(PTCH1):c.2954C>G (p.Ser985Ter)

SNV
Germline

Chr9:95458227

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112709

rs_760297274

1 SubmittersRCV001909578

NM_000264.5(PTCH1):c.2251-2A>G

SNV
Germline

Chr9:95467427

Pathogenic/Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374114778

rs_2117976305

2 SubmittersRCV001973532 RCV002442973

NM_000264.5(PTCH1):c.671A>T (p.Tyr224Phe)

SNV
Germline

Chr9:95482024

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138873

rs_747205016

2 SubmittersRCV002011028 RCV003355755

NM_000264.5(PTCH1):c.542C>T (p.Ser181Leu)

SNV
Germline

Chr9:95485727

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA196536890

rs_868350953

2 SubmittersRCV001909713 RCV003348607

NM_016169.4(SUFU):c.1297-13T>C

SNV
Germline

Chr10:102627162

Conflicting classifications of pathogenicity

Condition: not provided
Medulloblastoma
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5667973

rs_557592503

2 SubmittersRCV003161337 RCV002077894

NM_000264.5(PTCH1):c.1356T>C (p.Tyr452=)

SNV
Germline

Chr9:95477694

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466120653

rs_2118311917

3 SubmittersRCV002099498 RCV002386945 RCV004999619

NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)

SNV
Germline

Chr9:95468803

Pathogenic/Likely pathogenic

Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374115357

rs_1311804361

3 SubmittersRCV002223033

NM_000264.5(PTCH1):c.1848-3C>G

SNV
Germline

Chr9:95469156

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA2573144907

rs_2118062649

1 SubmittersRCV002250270

NM_000264.5(PTCH1):c.2808C>T (p.Ala936=)

SNV
Germline

Chr9:95459679

Conflicting classifications of pathogenicity

See cases
Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA466111623

rs_1393599414

4 SubmittersRCV002252841 RCV002434609 RCV003094104 RCV004729116

NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)

SNV
Germline

Chr9:95516664

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Gorlin syndrome
Holoprosencephaly 7
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5139095

rs_185570125

4 SubmittersRCV002254847 RCV002488633 RCV003434460

NM_000264.5(PTCH1):c.1503+2T>A

SNV
Germline

Chr9:95477545

Likely pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Single Submitter

CA374118365

rs_2118302461

2 SubmittersRCV002391386 RCV002509129

NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)

SNV
Germline

Chr9:95479002

Pathogenic/Likely pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374119207

rs_2538216536

2 SubmittersRCV002289420 RCV004047609

NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)

SNV
Germline

Chr9:95480497

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114096

rs_2118420430

1 SubmittersRCV002289424

NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)

SNV
Germline

Chr9:95482171

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115089

rs_2538247585

1 SubmittersRCV002290368

NM_000264.5(PTCH1):c.1347+1G>A

SNV
Germline

Chr9:95478054

Likely pathogenic

Gorlin syndrome

No Assertion Criteria Provided

CA374118697

rs_1588602262

1 SubmittersRCV002291144

NM_000264.5(PTCH1):c.1375C>T (p.Arg459Cys)

SNV
Germline

Chr9:95477675

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138665

rs_779885444

3 SubmittersRCV002301011 RCV002382514 RCV003097880

NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)

SNV
Germline

Chr10:102615378

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA377914463

rs_1254002019

2 SubmittersRCV002445517 RCV003775568

NM_000264.5(PTCH1):c.3897C>T (p.Gly1299=)

SNV
Germline

Chr9:95447359

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA466351711

rs_2136582679

2 SubmittersRCV003502627 RCV002366372

NM_000264.5(PTCH1):c.3839C>G (p.Ser1280Trp)

SNV
Germline

Chr9:95447417

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Conflicting Classifications

CA5138026

rs_201595274

3 SubmittersRCV002364050 RCV003094392 RCV005055192

NM_000264.5(PTCH1):c.3307-3C>T

SNV
Germline

Chr9:95453623

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA2580081264

rs_2136632458

2 SubmittersRCV002326256 RCV003502622

NM_000264.5(PTCH1):c.3307-4A>G

SNV
Germline

Chr9:95453624

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA1865584251

rs_1554690494

2 SubmittersRCV002326257 RCV005058292

NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)

SNV
Germline

Chr9:95449119

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374111006

rs_780990429

3 SubmittersRCV002349325 RCV003108018 RCV003471338

NM_000264.5(PTCH1):c.410G>A (p.Ser137Asn)

SNV
Germline

Chr9:95485859

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374117308

rs_2118550508

2 SubmittersRCV002323397 RCV003094531

NM_000264.5(PTCH1):c.566A>G (p.His189Arg)

SNV
Germline

Chr9:95485703

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138922

rs_751113638

3 SubmittersRCV003096831 RCV002347343 RCV003471348

NM_000264.5(PTCH1):c.551A>G (p.Gln184Arg)

SNV
Germline

Chr9:95485718

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138925

rs_755867972

2 SubmittersRCV002351755 RCV003096778

NM_016169.4(SUFU):c.912C>T (p.Asp304=)

SNV
Germline

Chr10:102599434

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA471302577

rs_2545100272

2 SubmittersRCV002378731 RCV003103562

NM_000264.5(PTCH1):c.70C>A (p.Pro24Thr)

SNV
Germline

Chr9:95508292

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374121480

rs_1338078012

2 SubmittersRCV002367343 RCV003502654

NM_000264.5(PTCH1):c.1255G>A (p.Val419Met)

SNV
Germline

Chr9:95478147

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138712

rs_202136156

2 SubmittersRCV002419290 RCV003609229

NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)

SNV
Germline

Chr9:95479984

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374119586

rs_1159971759

2 SubmittersRCV002403870 RCV003097081

NM_000264.5(PTCH1):c.157C>T (p.Pro53Ser)

SNV
Germline

Chr9:95508205

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374121333

rs_1266988083

3 SubmittersRCV002405766 RCV003100733 RCV003464525

NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)

SNV
Germline

Chr9:95469086

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138483

rs_775023150

2 SubmittersRCV002410612 RCV003774561

NM_000264.5(PTCH1):c.1602+5T>C

SNV
Germline

Chr9:95476754

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA1865644195

rs_1841071047

2 SubmittersRCV002398709 RCV003609236

NM_000264.5(PTCH1):c.197C>T (p.Ser66Phe)

SNV
Germline

Chr9:95508165

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA196555391

rs_1025299062

2 SubmittersRCV002423652 RCV003609244

NM_000264.5(PTCH1):c.2266C>T (p.Leu756Phe)

SNV
Germline

Chr9:95467410

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Autism spectrum disorder
not specified

Criteria Provided
Conflicting Classifications

CA374114739

rs_1398517498

5 SubmittersRCV002443814 RCV003098764 RCV003126251 RCV003151408

NM_000264.5(PTCH1):c.239G>C (p.Arg80Thr)

SNV
Germline

Chr9:95506562

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374120606

rs_1192030415

2 SubmittersRCV002459639 RCV003098853

NM_000264.5(PTCH1):c.2611A>G (p.Asn871Asp)

SNV
Germline

Chr9:95461948

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138361

rs_777120634

2 SubmittersRCV002426334 RCV003102027

NM_000264.5(PTCH1):c.2581A>G (p.Ser861Gly)

SNV
Germline

Chr9:95461978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374113550

rs_1338982883

2 SubmittersRCV002452845 RCV003502677

NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)

SNV
Germline

Chr9:95506526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Basal cell nevus syndrome 1
Holoprosencephaly 7
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA374120407

rs_1360279030

3 SubmittersRCV002439475 RCV003102184 RCV005050574

NM_000264.5(PTCH1):c.275G>T (p.Cys92Phe)

SNV
Germline

Chr9:95506526

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374120403

rs_1360279030

2 SubmittersRCV002439481 RCV003102185

NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly)

SNV
Germline

Chr9:95459654

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374112985

rs_1064794260

2 SubmittersRCV002435144 RCV005098308

NM_000264.5(PTCH1):c.2996G>A (p.Ser999Asn)

SNV
Germline

Chr9:95458185

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374112614

rs_2136661686

2 SubmittersRCV002435547 RCV003102958

NM_000264.5(PTCH1):c.910T>C (p.Cys304Arg)

SNV
Germline

Chr9:95480425

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113740

rs_1588609785

1 SubmittersRCV002471945

NM_000264.5(PTCH1):c.1148C>A (p.Ser383Ter)

SNV
Germline

Chr9:95479067

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119355

rs_2538217131

1 SubmittersRCV003062221

NM_000264.5(PTCH1):c.1068-2A>C

SNV
Germline

Chr9:95479149

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119548

rs_1060502271

1 SubmittersRCV003062222

NM_000264.5(PTCH1):c.585-1G>A

SNV
Germline

Chr9:95482204

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115172

rs_1057520590

1 SubmittersRCV003058227

NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)

SNV
Germline

Chr10:102593680

Pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377909516

rs_2135870609

1 SubmittersRCV003062298

NM_000264.5(PTCH1):c.1215+5A>T

SNV
Germline

Chr9:95478995

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA2580080863

rs_1286699794

2 SubmittersRCV004946167 RCV003050707

NM_000264.5(PTCH1):c.1602+9A>G

SNV
Germline

Chr9:95476750

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1865644177

rs_1841070214

2 SubmittersRCV003068140 RCV004999858

NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)

SNV
Germline

Chr9:95453581

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374111857

rs_201605273

2 SubmittersRCV004661557 RCV003081904

NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)

SNV
Germline

Chr10:102592683

Pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377908550

rs_2135867131

1 SubmittersRCV003067862

NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala)

SNV
Germline

Chr9:95453535

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374111763

rs_1467320686

2 SubmittersRCV002596073 RCV003294542

NM_000264.5(PTCH1):c.2704-1G>A

SNV
Germline

Chr9:95459784

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113265

rs_1839301103

1 SubmittersRCV002633591

NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly)

SNV
Germline

Chr9:95461989

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138364

rs_763119366

2 SubmittersRCV002633008 RCV005264374

NM_000264.5(PTCH1):c.3818A>C (p.Glu1273Ala)

SNV
Germline

Chr9:95447438

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138029

rs_781188583

2 SubmittersRCV002581274 RCV005465763

NM_000264.5(PTCH1):c.814A>G (p.Asn272Asp)

SNV
Germline

Chr9:95480521

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138836

rs_774476280

2 SubmittersRCV002587782 RCV004656934

NM_000264.5(PTCH1):c.1504-5T>C

SNV
Germline

Chr9:95476862

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138628

rs_771796683

2 SubmittersRCV002622872 RCV005264251

NM_000264.5(PTCH1):c.1728+4A>G

SNV
Germline

Chr9:95476030

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2579389120

rs_2118247787

2 SubmittersRCV002636227 RCV004066651

NM_000264.5(PTCH1):c.866A>G (p.His289Arg)

SNV
Germline

Chr9:95480469

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374113958

rs_1221172962

3 SubmittersRCV002646312 RCV003149038 RCV003382911

NM_000264.5(PTCH1):c.1726C>T (p.Gln576Ter)

SNV
Germline

Chr9:95476036

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374117876

rs_2118248031

1 SubmittersRCV002627569

NM_003738.5(PTCH2):c.2744G>A (p.Arg915His)

SNV
Germline

Chr1:44826720

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA340093881

rs_1389288169

2 SubmittersRCV002726770 RCV005264259

NM_000264.5(PTCH1):c.4193G>A (p.Cys1398Tyr)

SNV
Germline

Chr9:95447063

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110149

rs_1564004796

2 SubmittersRCV002730351 RCV004656974

NM_000264.5(PTCH1):c.998A>G (p.Lys333Arg)

SNV
Germline

Chr9:95480038

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374119709

rs_1238175144

2 SubmittersRCV002785666 RCV003167741

NM_000264.5(PTCH1):c.702C>A (p.Cys234Ter)

SNV
Germline

Chr9:95481993

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114886

rs_1841574509

1 SubmittersRCV002825373

NM_000264.5(PTCH1):c.3283G>T (p.Glu1095Ter)

SNV
Germline

Chr9:95456299

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111999

rs_1588535427

1 SubmittersRCV002801791

NM_000264.5(PTCH1):c.2812C>T (p.Gln938Ter)

SNV
Germline

Chr9:95459675

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113028

rs_778810550

1 SubmittersRCV002837983

NM_000264.5(PTCH1):c.655-2A>G

SNV
Germline

Chr9:95482042

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114999

rs_2538246190

1 SubmittersRCV002851038

NM_000264.5(PTCH1):c.2050G>T (p.Glu684Ter)

SNV
Germline

Chr9:95468951

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115762

rs_62637629

1 SubmittersRCV002829381

NM_000264.5(PTCH1):c.3758A>C (p.Gln1253Pro)

SNV
Germline

Chr9:95449115

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374110997

rs_146390067

3 SubmittersRCV002907869 RCV004809863 RCV005264286

NM_003738.5(PTCH2):c.3106G>A (p.Val1036Met)

SNV
Germline

Chr1:44826258

Conflicting classifications of pathogenicity

Gorlin syndrome
not specified

Criteria Provided
Conflicting Classifications

CA822806

rs_560010627

2 SubmittersRCV002921983 RCV004066286

NM_000264.5(PTCH1):c.2329C>T (p.Leu777Phe)

SNV
Germline

Chr9:95467347

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138412

rs_376799601

2 SubmittersRCV002953127 RCV005465840

NM_000264.5(PTCH1):c.2220T>A (p.Tyr740Ter)

SNV
Germline

Chr9:95468781

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115268

rs_1343177940

1 SubmittersRCV002942606

NM_000264.5(PTCH1):c.201+1G>T

SNV
Germline

Chr9:95508160

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374121234

rs_1131690967

1 SubmittersRCV002993678

NM_000264.5(PTCH1):c.746+1G>A

SNV
Germline

Chr9:95481948

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114789

rs_1131690994

1 SubmittersRCV003021687

NM_000264.5(PTCH1):c.586C>T (p.Gln196Ter)

SNV
Germline

Chr9:95482202

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115166

rs_2538248041

1 SubmittersRCV003015870

NM_000264.5(PTCH1):c.2703+1G>A

SNV
Germline

Chr9:95461855

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113273

rs_2136686539

1 SubmittersRCV003046143

NM_000264.5(PTCH1):c.1602+3A>T

SNV
Germline

Chr9:95476756

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA2580080907

rs_2538198952

1 SubmittersRCV003046198

NM_000264.5(PTCH1):c.3306+2T>C

SNV
Germline

Chr9:95456274

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374111944

rs_2136647071

1 SubmittersRCV003043545

NM_000264.5(PTCH1):c.2560+1G>A

SNV
Germline

Chr9:95467115

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113637

rs_2117944381

1 SubmittersRCV003046841

NM_016169.4(SUFU):c.1157+1G>A

SNV
Germline

Chr10:102615403

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377914644

rs_2492780272

1 SubmittersRCV003044669

NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)

SNV
Germline

Chr10:102509208

Pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

CA377888487

rs_2135620210

1 SubmittersRCV003066202

NM_000264.5(PTCH1):c.2026T>C (p.Tyr676His)

SNV
Germline

Chr9:95468975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA374115812

rs_1270892737

2 SubmittersRCV003171650 RCV003609263

NM_000264.5(PTCH1):c.202-5C>T

SNV
Germline

Chr9:95506604

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA466103727

rs_1316956248

2 SubmittersRCV003171661 RCV003502701

NM_000264.5(PTCH1):c.140G>C (p.Arg47Pro)

SNV
Germline

Chr9:95508222

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5139038

rs_775408408

2 SubmittersRCV003213790 RCV003502713

NM_000264.5(PTCH1):c.655-1G>T

SNV
Unknown

Chr9:95482041

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114995

rs_2118467340

1 SubmittersRCV003233473

NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)

SNV
Germline

Chr9:95458259

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5138282

rs_747385350

3 SubmittersRCV003305768 RCV003777125 RCV003477072

NM_000264.5(PTCH1):c.1197G>A (p.Trp399Ter)

SNV
Germline

Chr9:95479018

Pathogenic

Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374119247

rs_2538216680

2 SubmittersRCV003447833

NM_000264.5(PTCH1):c.1496C>G (p.Thr499Arg)

SNV
Germline

Chr9:95477554

Likely pathogenic

Gorlin syndrome
Basal cell nevus syndrome 1

Criteria Provided
Single Submitter

CA374118381

rs_1298115628

1 SubmittersRCV003448546 RCV005249513

NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=)

SNV
Germline

Chr9:95449865

Conflicting classifications of pathogenicity

Condition: not provided
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA466106231

rs_1231593535

2 SubmittersRCV003477355 RCV003502742

NM_000264.5(PTCH1):c.3153G>A (p.Trp1051Ter)

SNV
Germline

Chr9:95458028

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112278

rs_2136659817

1 SubmittersRCV003502962

NM_000264.5(PTCH1):c.1381G>A (p.Asp461Asn)

SNV
Germline

Chr9:95477669

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138663

rs_750404832

2 SubmittersRCV003503489 RCV005264426

NM_000264.5(PTCH1):c.2250+1G>T

SNV
Germline

Chr9:95468750

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115179

rs_2118020615

1 SubmittersRCV003504167

NM_000264.5(PTCH1):c.2778G>A (p.Trp926Ter)

SNV
Germline

Chr9:95459709

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113100

rs_2136672044

1 SubmittersRCV003504550

NM_000264.5(PTCH1):c.2453T>A (p.Leu818Ter)

SNV
Germline

Chr9:95467223

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114117

rs_1131691630

1 SubmittersRCV003504552

NM_000264.5(PTCH1):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr9:95467230

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114146

rs_2117957845

1 SubmittersRCV003504553

NM_000264.5(PTCH1):c.1987C>T (p.Gln663Ter)

SNV
Germline

Chr9:95469014

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115894

rs_2538148144

1 SubmittersRCV003504555

NM_000264.5(PTCH1):c.478C>T (p.Gln160Ter)

SNV
Germline

Chr9:95485791

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374117007

rs_2118545274

1 SubmittersRCV003504558

NM_000264.5(PTCH1):c.250C>T (p.Gln84Ter)

SNV
Germline

Chr9:95506551

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374120536

rs_2118880072

1 SubmittersRCV003504560

NM_000264.5(PTCH1):c.945+2T>G

SNV
Germline

Chr9:95480388

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113604

rs_1131690979

1 SubmittersRCV003502090

NM_000264.5(PTCH1):c.2532G>A (p.Trp844Ter)

SNV
Germline

Chr9:95467144

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374113769

rs_1840077192

1 SubmittersRCV003502482

NM_000264.5(PTCH1):c.3223G>T (p.Gly1075Ter)

SNV
Germline

Chr9:95456359

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112119

rs_1838926237

1 SubmittersRCV003503090

NM_000264.5(PTCH1):c.945+5G>C

SNV
Germline

Chr9:95480385

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA645567517

rs_1588609575

1 SubmittersRCV003503130

NM_000264.5(PTCH1):c.1356T>A (p.Tyr452Ter)

SNV
Germline

Chr9:95477694

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118669

rs_2118311917

1 SubmittersRCV003503399

NM_000264.5(PTCH1):c.2017C>G (p.His673Asp)

SNV
Germline

Chr9:95468984

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374115833

rs_1184226425

2 SubmittersRCV003609484 RCV005468007

NM_000264.5(PTCH1):c.2251-1G>A

SNV
Germline

Chr9:95467426

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114774

rs_2538134281

1 SubmittersRCV003610341

NM_000264.5(PTCH1):c.1067+2T>A

SNV
Germline

Chr9:95479967

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374119552

rs_2118387037

1 SubmittersRCV003610227

NM_000264.5(PTCH1):c.2917C>T (p.Gln973Ter)

SNV
Germline

Chr9:95458264

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112787

rs_2538069785

1 SubmittersRCV003610267

NM_000264.5(PTCH1):c.768G>A (p.Trp256Ter)

SNV
Germline

Chr9:95480567

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114531

rs_2118427528

1 SubmittersRCV003610323

NM_000264.5(PTCH1):c.1602+2T>C

SNV
Germline

Chr9:95476757

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118139

rs_2118279350

1 SubmittersRCV003608973

NM_000264.5(PTCH1):c.1985T>C (p.Val662Ala)

SNV
Germline

Chr9:95469016

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138471

rs_756263511

2 SubmittersRCV003608818 RCV004371790

NM_000264.5(PTCH1):c.1010G>A (p.Trp337Ter)

SNV
Germline

Chr9:95480026

Pathogenic

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA374119679

rs_2118391725

2 SubmittersRCV003608922 RCV004943181

NM_000264.5(PTCH1):c.1624A>T (p.Lys542Ter)

SNV
Germline

Chr9:95476138

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374118080

rs_2118259496

1 SubmittersRCV003608863

NM_000264.5(PTCH1):c.2887+1G>A

SNV
Germline

Chr9:95459599

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374112863

rs_2136669781

1 SubmittersRCV003608893

NM_000264.5(PTCH1):c.2403C>A (p.Tyr801Ter)

SNV
Germline

Chr9:95467273

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374114331

rs_2117963353

1 SubmittersRCV003609093

NM_000264.5(PTCH1):c.490G>T (p.Glu164Ter)

SNV
Germline

Chr9:95485779

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374116957

rs_2118544070

1 SubmittersRCV003610507

NM_003738.5(PTCH2):c.2560G>A (p.Glu854Lys)

SNV
Germline

Chr1:44827037

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1
Medulloblastoma

Criteria Provided
Conflicting Classifications

CA822965

rs_149133805

2 SubmittersRCV003610807 RCV005014896

NM_000264.5(PTCH1):c.239G>A (p.Arg80Lys)

SNV
Germline

Chr9:95506562

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA374120608

rs_1192030415

2 SubmittersRCV003609668 RCV004943217

NM_000264.5(PTCH1):c.1975C>T (p.Gln659Ter)

SNV
Germline

Chr9:95469026

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

CA374115918

rs_1268572514

1 SubmittersRCV003609756

NM_000264.5(PTCH1):c.1313G>T (p.Ser438Ile)

SNV
Germline

Chr9:95478089

Conflicting classifications of pathogenicity

Gorlin syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA374118766

rs_2118331448

2 SubmittersRCV003609757 RCV004556102

NM_016169.4(SUFU):c.183-1G>T

SNV
Germline

Chr10:102509168

Likely pathogenic

Gorlin syndrome
Medulloblastoma

Criteria Provided
Single Submitter

CA377888084

rs_1554841447

1 SubmittersRCV003781113

NM_016169.4(SUFU):c.1012G>C (p.Asp338His)

SNV
Germline

Chr10:102599534

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA377911196

rs_145082320

2 SubmittersRCV003806426 RCV005495638

NM_016169.4(SUFU):c.911-1G>T

SNV
Germline

Chr10:102599432

Likely pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

CA377910985

rs_2545100262

1 SubmittersRCV003803472

NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)

SNV
Germline

Chr10:102509242

Pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

CA377888750

rs_770989077

1 SubmittersRCV003803950

NM_016169.4(SUFU):c.756+10G>T

SNV
Germline

Chr10:102594075

Conflicting classifications of pathogenicity

Gorlin syndrome
Medulloblastoma
not specified

Criteria Provided
Conflicting Classifications

CA2740093530

rs_764838079

2 SubmittersRCV003795252 RCV005230574

NM_016169.4(SUFU):c.911-2A>C

SNV
Germline

Chr10:102599431

Conflicting classifications of pathogenicity

Medulloblastoma
Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA377910982

rs_2545100258

2 SubmittersRCV003808465 RCV004950695

NM_000264.5(PTCH1):c.2857G>A (p.Ala953Thr)

SNV
Germline

Chr9:95459630

Conflicting classifications of pathogenicity

Gorlin syndrome
Basal cell carcinoma, susceptibility to, 1

Criteria Provided
Conflicting Classifications

CA5138314

rs_765746826

2 SubmittersRCV003862356 RCV004573372

NM_000264.5(PTCH1):c.1847+1G>T

SNV
Germline

Chr9:95469812

Pathogenic

Gorlin syndrome
PTCH1-related disorder

Criteria Provided
Single Submitter

CA374116209

rs_1840398430

2 SubmittersRCV003877667 RCV004723527

NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)

SNV
Germline

Chr9:95458206

Conflicting classifications of pathogenicity

Gorlin syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA5138275

rs_767250750

2 SubmittersRCV003878348 RCV004369595

NM_000264.5(PTCH1):c.2093G>A (p.Ser698Asn)

SNV
Germline

Chr9:95468908

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

CA5138449

rs_763724025

2 SubmittersRCV004523083 RCV005100707

NM_000264.5(PTCH1):c.461A>G (p.Asn154Ser)

SNV
Germline

Chr9:95485808

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
PTCH1-related disorder
Gorlin syndrome

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005468123 RCV004727941 RCV005103620

NM_000264.5(PTCH1):c.3647G>A (p.Ser1216Asn)

SNV
Germline

Chr9:95449226

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004943480 RCV005107763

NM_000264.5(PTCH1):c.2561-2057A>G

SNV
Germline

Chr9:95464055

Likely pathogenic

Hereditary cancer-predisposing syndrome
Gorlin syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004946622 RCV005358167

NM_000264.5(PTCH1):c.3549+5G>A

SNV
Germline

Chr9:95449836

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005108907

NM_000264.5(PTCH1):c.2776T>G (p.Trp926Gly)

SNV
Germline

Chr9:95459711

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005106759

NM_000264.5(PTCH1):c.1728+2T>A

SNV
Germline

Chr9:95476032

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005134517

NM_000264.5(PTCH1):c.2181T>A (p.Cys727Ter)

SNV
Germline

Chr9:95468820

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005115896

NM_000264.5(PTCH1):c.2589G>A (p.Trp863Ter)

SNV
Germline

Chr9:95461970

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005131842

NM_000264.5(PTCH1):c.2422C>T (p.Gln808Ter)

SNV
Germline

Chr9:95467254

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005179237

NM_000264.5(PTCH1):c.1729-2A>G

SNV
Germline

Chr9:95469933

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005179238

NM_000264.5(PTCH1):c.747-2A>G

SNV
Germline

Chr9:95480590

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005188563

NM_000264.5(PTCH1):c.3398C>T (p.Thr1133Ile)

SNV
Germline

Chr9:95453529

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200755

NM_000264.5(PTCH1):c.2619C>A (p.Tyr873Ter)

SNV
Germline

Chr9:95461940

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200756

NM_000264.5(PTCH1):c.746+1G>T

SNV
Germline

Chr9:95481948

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200757

NM_000264.5(PTCH1):c.584+1G>A

SNV
Germline

Chr9:95485684

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005200758

NM_000264.5(PTCH1):c.873C>A (p.Tyr291Ter)

SNV
Germline

Chr9:95480462

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005198808

NM_000264.5(PTCH1):c.645C>G (p.Tyr215Ter)

SNV
Germline

Chr9:95482143

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005204585

NM_016169.4(SUFU):c.1294C>T (p.Gln432Ter)

SNV
Germline

Chr10:102617426

Pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005217616

NM_016169.4(SUFU):c.1365+2T>G

SNV
Germline

Chr10:102627245

Likely pathogenic

Medulloblastoma
Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005219785

NM_000264.5(PTCH1):c.1348-1G>C

SNV
Germline

Chr9:95477703

Pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005356704

NM_000264.5(PTCH1):c.3277G>C (p.Gly1093Arg)

SNV
Germline

Chr9:95456305

Likely pathogenic

Gorlin syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005600447