ClinVar for MedGen (Select 908281) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437338	NM_001130698.2(TRPC3):c.857C>G (p.Ser286Trp)	TRPC3 (S213W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 41	GUncertain significance
Select item 1801361	NM_001130698.2(TRPC3):c.2216T>C (p.Leu739Pro)	TRPC3 (L666P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 41	GUncertain significance
Select item 1342285	NM_001130698.2(TRPC3):c.117C>T (p.Gly39=)	TRPC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1298311	NM_001130698.2(TRPC3):c.949G>A (p.Glu317Lys)	TRPC3 (E244K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 41	GUncertain significance
Select item 1027487	NM_001130698.2(TRPC3):c.1419del (p.Val474fs)	TRPC3 (V401fs +1 more)	Deletion (frameshift variant)	Spinocerebellar ataxia type 41	GPathogenic
Select item 192274	NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His)	TRPC3 (R762H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar