"Baylor Genetics"[submitter] AND "SSR4"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441661	NM_006280.3(SSR4):c.270G>A (p.Trp90Ter)	SSR4 (W101* +2 more)	Single nucleotide variant (nonsense +1 more)	SSR4-congenital disorder of glycosylation	GPathogenic
Select item 372145	NM_006280.3(SSR4):c.417+1G>A	SSR4	Single nucleotide variant (splice donor variant)	SSR4-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic

Format

Sort by

Choose Destination

ClinVar