"Centogene AG - the Rare Disease Company"[submitter] AND "CACNA1G"[gen - 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 974856	NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)	CACNA1G (L211P)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GLikely pathogenic
Select item 1334012	NM_018896.5(CACNA1G):c.2850C>G (p.Phe950Leu)	CACNA1G (F950L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 42	GUncertain significance