C0002986[trait identifier] AND "deCODE genetics, Amgen"[submitter] - 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 222459	NM_000169.3(GLA):c.966C>A (p.Asp322Glu)	GLA, RPL36A-HNRNPH2 (D322E +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 659973	NM_000169.3(GLA):c.695T>C (p.Ile232Thr)	GLA, RPL36A-HNRNPH2 (I232T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic