C0004779[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166505	NM_003738.5(PTCH2):c.2055T>C (p.Ala685=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome +2 more	GBenign
Select item 1327456	NM_003738.5(PTCH2):c.1590+22A>G	PTCH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1327457	NM_003738.5(PTCH2):c.265+13C>T	PTCH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 41663	NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)	PTCH1 (P1249L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GBenign
Select item 255678	NM_000264.5(PTCH1):c.2887+21A>G	PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7 +3 more	GBenign
Select item 255677	NM_000264.5(PTCH1):c.2560+9G>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign
Select item 260689	NM_016169.4(SUFU):c.182+16C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +5 more	GBenign
Select item 260688	NM_016169.4(SUFU):c.1365+19T>C	SUFU	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 1175161	NM_016169.4(SUFU):c.*20T>G	SUFU	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign

ClinVar