"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

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

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930944	NM_001372574.1(ATXN2):c.3322A>G (p.Met1108Val)	ATXN2 (M1108V +3 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GBenign
Select item 930922	NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln)	ATXN2 (K512Q +2 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GUncertain significance