Related gene-specific medical variations for Gene (Select 1939) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3151945	NM_182663.4(RASSF5):c.968G>A (p.Arg323Gln)	EIF2D, RASSF5 (R170Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151938	NM_182663.4(RASSF5):c.1097A>C (p.Glu366Ala)	EIF2D, RASSF5 (E213A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616014	NM_182663.4(RASSF5):c.1019G>A (p.Arg340His)	EIF2D, RASSF5 (R187H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555789	NM_182663.4(RASSF5):c.1168G>C (p.Asp390His)	EIF2D, RASSF5 (D390H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472096	NM_182663.4(RASSF5):c.1051G>A (p.Asp351Asn)	EIF2D, RASSF5 (D198N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460149	NM_182663.4(RASSF5):c.818C>T (p.Thr273Ile)	EIF2D, RASSF5 (T273I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383865	NM_182663.4(RASSF5):c.964A>G (p.Lys322Glu)	EIF2D, RASSF5 (K169E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321524	NM_006893.3(EIF2D):c.898T>C (p.Cys300Arg)	EIF2D, LOC126805989 (C300R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313729	NM_182663.4(RASSF5):c.970A>T (p.Ile324Leu)	RASSF5, EIF2D (I171L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311261	NM_006893.3(EIF2D):c.652A>G (p.Met218Val)	EIF2D, LOC126805989 (M218V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260085	NM_006893.3(EIF2D):c.713T>G (p.Leu238Arg)	EIF2D, LOC126805989 (L238R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235190	NM_182663.4(RASSF5):c.662G>A (p.Arg221Gln)	EIF2D, RASSF5 (R68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance