ClinVar for MedGen (Select 1824067) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 979051	NM_015949.3(GET4):c.837A>G (p.Ile279Met)	GET4 (I279M)	Single nucleotide variant (missense variant)	GET4-related disorder	GUncertain significance
Select item 979050	NM_015949.3(GET4):c.365G>A (p.Arg122His)	GET4 (R122H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIy +1 more	GPathogenic/Likely pathogenic