"MGZ Medical Genetics Center"[submitter] AND "PTCH1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710037	NM_000264.5(PTCH1):c.1652_1660del (p.Thr551_Ile553del)	PTCH1	Deletion (inframe_deletion +1 more)	Gorlin syndrome	GUncertain significance
Select item 1709605	NM_000264.5(PTCH1):c.1213G>T (p.Glu405Ter)	PTCH1 (E254* +3 more)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1709597	NM_000264.5(PTCH1):c.1097del (p.Gln365_Leu366insTer)	PTCH1	Deletion (nonsense +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 1709609	NM_000264.5(PTCH1):c.838G>T (p.Glu280Ter)	PTCH1 (E129* +3 more)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 1710026	NM_000264.5(PTCH1):c.617C>G (p.Ser206Ter)	PTCH1 (S140* +3 more)	Single nucleotide variant (nonsense +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 1709158	NM_001083603.3(PTCH1):c.70_76del (p.Gly24fs)	PTCH1 (G24fs)	Deletion (5 prime UTR variant +1 more)	Gorlin syndrome	GLikely pathogenic
Select item 221923	NM_001083603.3(PTCH1):c.4del (p.Glu2fs)	PTCH1 (E2fs)	Deletion (5 prime UTR variant +2 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity

ClinVar