Related gene-specific medical variations for Gene (Select 8643) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678092	NM_003738.5(PTCH2):c.3238C>G (p.His1080Asp)	PTCH2 (H1080D)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 1327101	NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser)	PTCH2 (R1086S)	Single nucleotide variant (missense variant)	Gorlin syndrome	GUncertain significance
Select item 1327063	NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly)	PTCH2 (S1152G)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome	GUncertain significance
Select item 1317220	NM_003738.5(PTCH2):c.-307G>C	LOC129930428, PTCH2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 931578	NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly)	PTCH2 (V1062G)	Single nucleotide variant (missense variant)	Basal cell carcinoma, susceptibility to, 1	GUncertain significance
Select item 59967	GRCh38/hg38 1p34.1(chr1:44838131-44841480)x1	PTCH2	Copy number loss	See cases	GPathogenic

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