"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986974	NM_000264.5(PTCH1):c.3094_3095del (p.Ile1032fs)	PTCH1 (I1031fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 420053	NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)	PTCH1 (R879* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 987084	NM_000264.5(PTCH1):c.2506G>T (p.Glu836Ter)	LOC100507346, PTCH1 (E685* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 409162	NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)	LOC100507346, PTCH1 (R704* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +4 more	GPathogenic
Select item 987139	NM_000264.5(PTCH1):c.2179del (p.Cys727fs)	LOC100507346, PTCH1 (C576fs +4 more)	Deletion (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 524591	NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)	PTCH1 (T164I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity

ClinVar