ClinVar for MedGen (Select 167083) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672182	NM_005631.5(SMO):c.537G>A (p.Thr179=)	SMO	Single nucleotide variant (synonymous variant)	Curry-Jones syndrome	GUncertain significance
Select item 2672133	NM_005631.5(SMO):c.771G>A (p.Arg257=)	SMO	Single nucleotide variant (synonymous variant)	Curry-Jones syndrome	GUncertain significance
Select item 2672101	NM_005631.5(SMO):c.1102C>G (p.Pro368Ala)	SMO (P368A)	Single nucleotide variant (missense variant)	Curry-Jones syndrome	GUncertain significance
Select item 736286	NM_005631.5(SMO):c.621C>T (p.Tyr207=)	SMO	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 245609	NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)	SMO (L412F)	Single nucleotide variant (missense variant)	Curry-Jones syndrome	GPathogenic
Select item 135263	NM_005631.5(SMO):c.2177G>A (p.Arg726Gln)	SMO (R726Q)	Single nucleotide variant (missense variant)	Curry-Jones syndrome +1 more	GConflicting classifications of pathogenicity

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