ClinVar Miner

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

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NC_000009.11:g.(?_98238306)_(98238451_?)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.1503+1G>T rs864622293
NM_000264.5(PTCH1):c.1503+2T>C rs2118302461
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.1602+2T>C
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.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.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+2T>G
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)

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