"Clinical Genomics Laboratory, Washington University in St. Louis"[sub - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672141	NM_005631.5(SMO):c.173C>T (p.Pro58Leu)	LOC129999303, SMO (P58L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 3237435	NM_005631.5(SMO):c.244G>C (p.Val82Leu)	SMO (V82L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
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 3237387	NM_005631.5(SMO):c.979G>A (p.Ala327Thr)	SMO (A327T)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	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 2672174	NM_005631.5(SMO):c.1358-3C>T	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 135576	NM_005631.5(SMO):c.2057C>T (p.Ala686Val)	SMO (A686V)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2443394	NM_005631.5(SMO):c.2126G>A (p.Arg709Gln)	SMO (R709Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance