List of variants in gene PTCH2 reported as benign for Gorlin syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 51

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HGVS	dbSNP	gnomAD frequency
NM_003738.5(PTCH2):c.2055T>C (p.Ala685=)	rs7525308	0.42892
NM_003738.5(PTCH2):c.1590+22A>G	rs2273940	0.42724
NM_003738.5(PTCH2):c.265+13C>T	rs3795720	0.34867
NM_003738.5(PTCH2):c.1821A>G (p.Glu607=)	rs2295997	0.18953
NM_003738.5(PTCH2):c.3114+14C>T	rs11211040	0.17210
NM_003738.5(PTCH2):c.2487C>T (p.Asp829=)	rs2295996	0.14124
NM_003738.5(PTCH2):c.2371+17C>T	rs7532882	0.07832
NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met)	rs11573590	0.02555
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)	rs11573587	0.01447
NM_003738.5(PTCH2):c.687C>T (p.Ala229=)	rs11573576	0.01288
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=)	rs11573588	0.01285
NM_003738.5(PTCH2):c.90G>A (p.Leu30=)	rs45573433	0.00945
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His)	rs139624405	0.00701
NM_003738.5(PTCH2):c.1371+8A>G	rs187485698	0.00661
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)	rs11573579	0.00649
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)	rs147627670	0.00534
NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=)	rs11573596	0.00468
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=)	rs34245589	0.00406
NM_003738.5(PTCH2):c.2695+8T>C	rs145066065	0.00211
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met)	rs11573598	0.00155
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=)	rs35851686	0.00152
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=)	rs11573585	0.00114
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=)	rs112563011	0.00108
NM_003738.5(PTCH2):c.622C>T (p.Arg208Cys)	rs149379394	0.00103
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=)	rs143390610	0.00084
NM_003738.5(PTCH2):c.1083+3C>T	rs557532187	0.00066
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=)	rs140921885	0.00066
NM_003738.5(PTCH2):c.321G>A (p.Glu107=)	rs143348731	0.00052
NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=)	rs372274925	0.00032
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=)	rs148265788	0.00026
NM_003738.5(PTCH2):c.1533C>T (p.Ala511=)	rs76854674	0.00012
NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg)	rs55651071	0.00011
NM_003738.5(PTCH2):c.2248G>A (p.Ala750Thr)	rs529700882	0.00006
NM_003738.5(PTCH2):c.190T>C (p.Leu64=)	rs199655603	0.00005
NM_003738.5(PTCH2):c.2142G>A (p.Thr714=)	rs200329309	0.00004
NM_003738.5(PTCH2):c.2372-4C>T	rs192320525	0.00004
NM_003738.5(PTCH2):c.1054C>T (p.Leu352=)	rs200855030	0.00003
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile)	rs561781541	0.00003
NM_003738.5(PTCH2):c.945C>T (p.Ala315=)	rs201325645	0.00003
NM_003738.5(PTCH2):c.1611C>T (p.Cys537=)	rs372959991	0.00001
NM_003738.5(PTCH2):c.525+19A>C	rs770589703	0.00001
NM_003738.5(PTCH2):c.1216-5dup	rs1557645739
NM_003738.5(PTCH2):c.1506C>G (p.Val502=)	rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=)	rs11573582
NM_003738.5(PTCH2):c.1709+11C>T
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)	rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr)	rs11573586
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=)	rs111471526
NM_003738.5(PTCH2):c.266-16_266-15del	rs756782903
NM_003738.5(PTCH2):c.3258-16del
NM_003738.5(PTCH2):c.732C>T (p.Gly244=)

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