C4706415[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1256191	NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)	SPTBN2 (R2347W)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 305532	NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)	SPTBN2	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 14 +3 more	GBenign/Likely benign
Select item 994477	NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)	SPTBN2	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GUncertain significance
Select item 502387	NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val)	SPTBN2 (A1267V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1400209	NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His)	SPTBN2 (R739H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +2 more	GConflicting classifications of pathogenicity
Select item 1372969	NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr)	SPTBN2 (C231Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance

ClinVar