BHLHE40[gene] and "single gene"[properties] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2557855	NM_003670.3(BHLHE40):c.97A>G (p.Met33Val)	BHLHE40 (M33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259791	NM_003670.3(BHLHE40):c.107T>C (p.Val36Ala)	BHLHE40 (V36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133814	NM_003670.3(BHLHE40):c.430T>G (p.Ser144Ala)	BHLHE40 (S144A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315914	NM_003670.3(BHLHE40):c.452G>A (p.Arg151Gln)	BHLHE40 (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133815	NM_003670.3(BHLHE40):c.532G>C (p.Val178Leu)	BHLHE40 (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260860	NM_003670.3(BHLHE40):c.584C>T (p.Ala195Val)	BHLHE40 (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133816	NM_003670.3(BHLHE40):c.649A>G (p.Lys217Glu)	BHLHE40 (K217E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225144	NM_003670.3(BHLHE40):c.682G>A (p.Ala228Thr)	BHLHE40 (A228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260857	NM_003670.3(BHLHE40):c.829G>A (p.Ala277Thr)	BHLHE40 (A277T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2213982	NM_003670.3(BHLHE40):c.856C>T (p.Pro286Ser)	BHLHE40 (P286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400818	NM_003670.3(BHLHE40):c.859A>G (p.Thr287Ala)	BHLHE40 (T287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653460	NM_003670.3(BHLHE40):c.879G>A (p.Gln293=)	BHLHE40	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2569301	NM_003670.3(BHLHE40):c.910A>C (p.Ser304Arg)	BHLHE40 (S304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401461	NM_003670.3(BHLHE40):c.928C>A (p.Pro310Thr)	BHLHE40 (P310T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327572	NM_003670.3(BHLHE40):c.937G>A (p.Gly313Ser)	BHLHE40 (G313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260861	NM_003670.3(BHLHE40):c.1093T>G (p.Phe365Val)	BHLHE40 (F365V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469323	NM_003670.3(BHLHE40):c.1102C>T (p.Pro368Ser)	BHLHE40 (P368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133812	NM_003670.3(BHLHE40):c.1125G>T (p.Leu375Phe)	BHLHE40 (L375F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133813	NM_003670.3(BHLHE40):c.1126C>T (p.Leu376Phe)	BHLHE40 (L376F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260859	NM_003670.3(BHLHE40):c.1171G>A (p.Val391Ile)	BHLHE40 (V391I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 395176	GRCh37/hg19 3p26.1(chr3:5021459-5030941)x3	BHLHE40	Copy number gain	See cases	GLikely benign

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Items: 21