"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 413906	NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)	SUFU (A138T)	Single nucleotide variant (missense variant)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 453966	NM_016169.4(SUFU):c.529A>G (p.Met177Val)	SUFU (M177V)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 413912	NM_016169.4(SUFU):c.600C>T (p.Ile200=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +5 more	GConflicting classifications of pathogenicity
Select item 453982	NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)	SUFU (G294S)	Single nucleotide variant (missense variant)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 406391	NM_016169.4(SUFU):c.911-7G>A	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524656	NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)	SUFU (R393W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance

ClinVar