"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130585	NM_198994.3(TGM6):c.172A>G (p.Met58Val)	TGM6 (M58V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 337914	NM_198994.3(TGM6):c.850+12G>A	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 337926	NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp)	TGM6 (R448W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 130584	NM_198994.3(TGM6):c.1476G>A (p.Lys492=)	TGM6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 337931	NM_198994.3(TGM6):c.1580T>A (p.Val527Glu)	TGM6 (V527E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 337938	NM_198994.3(TGM6):c.1968-11C>T	TGM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 337939	NM_198994.3(TGM6):c.1968-10C>T	TGM6	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 35 +1 more	GBenign

ClinVar