"Ambry Genetics"[submitter] AND "EFNA4-EFNA3"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2336714	NM_005227.3(EFNA4):c.105T>A (p.Ser35Arg)	ADAM15-EFNA4, DCST1-AS1 +2 more (S35R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281424	NM_005227.3(EFNA4):c.133G>C (p.Val45Leu)	ADAM15-EFNA4, EFNA4 +1 more (V45L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2519275	NM_005227.3(EFNA4):c.229A>G (p.Met77Val)	ADAM15-EFNA4, EFNA4 +1 more (M77V +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2530768	NM_005227.3(EFNA4):c.280T>G (p.Tyr94Asp)	ADAM15-EFNA4, EFNA4 +1 more (Y18D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2463192	NM_005227.3(EFNA4):c.386C>G (p.Thr129Ser)	ADAM15-EFNA4, EFNA4 +1 more (T129S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321748	NM_005227.3(EFNA4):c.*77G>C	ADAM15-EFNA4, EFNA4 +1 more (A97P +1 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2519043	NM_005227.3(EFNA4):c.*105G>A	ADAM15-EFNA4, EFNA4 +1 more (R106Q +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2622724	NM_004952.5(EFNA3):c.133C>T (p.Arg45Trp)	EFNA3, EFNA4-EFNA3 (R40W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536410	NM_004952.5(EFNA3):c.171C>G (p.Asp57Glu)	EFNA3, EFNA4-EFNA3 +1 more (D52E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268066	NM_004952.5(EFNA3):c.205T>G (p.Ser69Ala)	EFNA3, EFNA4-EFNA3 +1 more (S64A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377274	NM_004952.5(EFNA3):c.230C>T (p.Pro77Leu)	EFNA3, EFNA4-EFNA3 +1 more (P72L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300732	NM_004952.5(EFNA3):c.239G>C (p.Gly80Ala)	EFNA3, EFNA4-EFNA3 +1 more (G80A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493918	NM_004952.5(EFNA3):c.349C>T (p.His117Tyr)	EFNA3, EFNA4-EFNA3 (H112Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340532	NM_004952.5(EFNA3):c.503C>T (p.Ala168Val)	EFNA3, EFNA4-EFNA3 (A168V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621047	NM_004952.5(EFNA3):c.506C>A (p.Ser169Tyr)	EFNA3, EFNA4-EFNA3 (S164Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547213	NM_004952.5(EFNA3):c.577A>G (p.Asn193Asp)	EFNA3, EFNA4-EFNA3 (N193D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509728	NM_004952.5(EFNA3):c.655C>T (p.Arg219Trp)	EFNA3, EFNA4-EFNA3 (R214W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612357	NM_004952.5(EFNA3):c.656G>A (p.Arg219Gln)	EFNA3, EFNA4-EFNA3 (R219Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206906	NM_004952.5(EFNA3):c.667C>T (p.Pro223Ser)	EFNA3, EFNA4-EFNA3 (P218S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance