EN2[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2269008	NM_001427.4(EN2):c.16C>A (p.Pro6Thr)	EN2 (P6T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088810	NM_001427.4(EN2):c.79G>C (p.Gly27Arg)	EN2 (G27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275393	NM_001427.4(EN2):c.89G>A (p.Gly30Asp)	EN2 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613072	NM_001427.4(EN2):c.119C>G (p.Ala40Gly)	EN2 (A40G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275394	NM_001427.4(EN2):c.127G>C (p.Gly43Arg)	EN2 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088801	NM_001427.4(EN2):c.133C>T (p.Arg45Trp)	EN2 (R45W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088802	NM_001427.4(EN2):c.172G>A (p.Gly58Ser)	EN2 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275040	NM_001427.4(EN2):c.203A>G (p.Asn68Ser)	EN2 (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755379	NM_001427.4(EN2):c.231C>G (p.Pro77=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088803	NM_001427.4(EN2):c.269C>G (p.Ala90Gly)	EN2 (A90G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393945	NM_001427.4(EN2):c.281G>A (p.Gly94Glu)	EN2 (G94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272004	NM_001427.4(EN2):c.323G>C (p.Gly108Ala)	EN2 (G108A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275390	NM_001427.4(EN2):c.326C>T (p.Ala109Val)	EN2 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246891	NM_001427.4(EN2):c.340G>A (p.Gly114Ser)	EN2 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088804	NM_001427.4(EN2):c.367G>C (p.Gly123Arg)	EN2 (G123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275388	NM_001427.4(EN2):c.377C>T (p.Ser126Phe)	EN2 (S126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088805	NM_001427.4(EN2):c.388C>G (p.Arg130Gly)	EN2 (R130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275389	NM_001427.4(EN2):c.397C>A (p.Pro133Thr)	EN2 (P133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318657	NM_001427.4(EN2):c.419G>A (p.Gly140Asp)	EN2 (G140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088806	NM_001427.4(EN2):c.425C>T (p.Pro142Leu)	EN2 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401306	NM_001427.4(EN2):c.440G>T (p.Gly147Val)	EN2 (G147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275391	NM_001427.4(EN2):c.493G>C (p.Gly165Arg)	EN2 (G165R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520881	NM_001427.4(EN2):c.499G>T (p.Ala167Ser)	EN2 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088807	NM_001427.4(EN2):c.535G>C (p.Gly179Arg)	EN2 (G179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593777	NM_001427.4(EN2):c.547G>A (p.Ala183Thr)	EN2 (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243714	NM_001427.4(EN2):c.562G>T (p.Gly188Cys)	EN2 (G188C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363254	NM_001427.4(EN2):c.581G>C (p.Ser194Thr)	EN2 (S194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711482	NM_001427.4(EN2):c.600G>C (p.Ser200=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3088808	NM_001427.4(EN2):c.633G>A (p.Met211Ile)	EN2 (M211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16631	NM_001427.4(EN2):c.686-1073G>A	EN2	Single nucleotide variant (intron variant)	Autism, susceptibility to, 10	GUncertain significance
Select item 16632	NM_001427.4(EN2):c.686-921T>C	EN2	Single nucleotide variant (intron variant)	Autism, susceptibility to, 10	GUncertain significance
Select item 2320940	NM_001427.4(EN2):c.813G>T (p.Glu271Asp)	EN2 (E271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275392	NM_001427.4(EN2):c.814C>G (p.Gln272Glu)	EN2 (Q272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252791	NM_001427.4(EN2):c.889G>A (p.Ala297Thr)	EN2 (A297T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1260669	NM_001427.4(EN2):c.952T>C (p.Leu318=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 735324	NM_001427.4(EN2):c.960C>T (p.Asn320=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2658276	NM_001427.4(EN2):c.996C>T (p.Ser332=)	EN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 37