ClinVar Miner

List of variants in gene PTCH1 reported as likely pathogenic for Gorlin syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NC_000009.11:g.(?_98231088)_(98232163_?)del
NC_000009.11:g.(?_98238306)_(98238451_?)del
NC_000009.11:g.(?_98240426)_(98242927_?)del
NC_000009.11:g.(?_98241272)_(98248166_?)dup
NC_000009.12:g.(?_95456266)_(95459793_?)del
NM_000264.3(PTCH1):c.1779_2195del
NM_000264.5(PTCH1):c.1097del (p.Gln365_Leu366insTer)
NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)
NM_000264.5(PTCH1):c.1226dup (p.Ser410fs)
NM_000264.5(PTCH1):c.1347+1G>A
NM_000264.5(PTCH1):c.1347+2T>C rs1841214135
NM_000264.5(PTCH1):c.1418_1432del (p.Gly473_Val477del) rs1554698582
NM_000264.5(PTCH1):c.1460T>G (p.Leu487Arg) rs2118304794
NM_000264.5(PTCH1):c.1496C>G (p.Thr499Arg)
NM_000264.5(PTCH1):c.1502A>G (p.Gln501Arg) rs863225054
NM_000264.5(PTCH1):c.1511C>A (p.Pro504Gln) rs1588598694
NM_000264.5(PTCH1):c.1531G>C (p.Gly511Arg) rs1588598613
NM_000264.5(PTCH1):c.1660A>C (p.Ser554Arg) rs1060502282
NM_000264.5(PTCH1):c.201+1G>T
NM_000264.5(PTCH1):c.2702_2703+4del
NM_000264.5(PTCH1):c.2703+1G>A
NM_000264.5(PTCH1):c.2704-1G>A
NM_000264.5(PTCH1):c.2776T>G (p.Trp926Gly)
NM_000264.5(PTCH1):c.2777G>C (p.Trp926Ser) rs2136672063
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter) rs1064794260
NM_000264.5(PTCH1):c.2887+1G>A
NM_000264.5(PTCH1):c.290_291insG (p.Asn97fs)
NM_000264.5(PTCH1):c.290_291insT (p.Cys98fs)
NM_000264.5(PTCH1):c.297C>T (p.Gly99=) rs772407797
NM_000264.5(PTCH1):c.3059_3088del (p.Gln1020_Leu1029del) rs1839107392
NM_000264.5(PTCH1):c.3169-1G>A rs1060502285
NM_000264.5(PTCH1):c.317T>G (p.Leu106Arg) rs1131690998
NM_000264.5(PTCH1):c.318_334del (p.Leu107fs) rs2118876177
NM_000264.5(PTCH1):c.3307-115_3339del rs1838664702
NM_000264.5(PTCH1):c.3307-1G>A rs2136632449
NM_000264.5(PTCH1):c.3384del (p.Asp1128fs) rs1838658874
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro) rs878853856
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe) rs1588528503
NM_000264.5(PTCH1):c.3487G>C (p.Gly1163Arg) rs113663584
NM_000264.5(PTCH1):c.3488G>T (p.Gly1163Val) rs864622120
NM_000264.5(PTCH1):c.3550-2A>C rs1838244368
NM_000264.5(PTCH1):c.385T>C (p.Trp129Arg) rs2118873547
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
NM_000264.5(PTCH1):c.407dup (p.Ser137fs) rs1564063386
NM_000264.5(PTCH1):c.559del (p.Arg187fs)
NM_000264.5(PTCH1):c.584+1G>A
NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)
NM_000264.5(PTCH1):c.655-12_655-11insGGCCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTGAGACTGGATGGTCTGGATCTCGTGTACTCGTGATACTCCCGCCTCTGCCTCCCAAACAGCTGGGATTACAGGCGTGAGCCACTTCGCCCGGCC
NM_000264.5(PTCH1):c.655-1G>T
NM_000264.5(PTCH1):c.655-2A>G
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000264.5(PTCH1):c.709G>A (p.Glu237Lys) rs2118462668
NM_000264.5(PTCH1):c.741_746+1del rs1554700574
NM_000264.5(PTCH1):c.747-54_1261del
NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)
NM_000264.5(PTCH1):c.910T>C (p.Cys304Arg)
NM_000264.5(PTCH1):c.945+2_945+8delinsCGCT rs1588609559
NM_000264.5(PTCH1):c.945+5G>C
NM_001083603.3(PTCH1):c.179_180del (p.Lys60fs) rs1447209500
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083603.3(PTCH1):c.70_76del (p.Gly24fs)
NM_001083603.3(PTCH1):c.91del (p.Tyr31fs)

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