Related gene-specific medical variations for Gene (Select 80267) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2639637	NM_025191.4(EDEM3):c.147A>G (p.Lys49=)	EDEM3, LOC129932108	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582512	NM_025191.4(EDEM3):c.1692-28A>T	EDEM3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation, type 2v	GUncertain significance
Select item 2582423	NM_025191.4(EDEM3):c.295G>A (p.Ala99Thr)	EDEM3 (A99T)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type 2v	GUncertain significance
Select item 2406950	NM_025191.4(EDEM3):c.139G>A (p.Glu47Lys)	EDEM3, LOC129932108 (E47K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242328	NM_025191.4(EDEM3):c.122C>T (p.Ala41Val)	EDEM3, LOC129932108 (A41V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 599481	NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)	EDEM3 (L402V)	Single nucleotide variant (missense variant +1 more)	Short stature	GLikely pathogenic

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