ECH1[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2315657	NM_001398.3(ECH1):c.977C>T (p.Ser326Phe)	ECH1 (S326F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274406	NM_001398.3(ECH1):c.916G>A (p.Asp306Asn)	ECH1 (D306N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593823	NM_001398.3(ECH1):c.887C>T (p.Ser296Phe)	ECH1 (S296F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210939	NM_001398.3(ECH1):c.779T>C (p.Leu260Pro)	ECH1 (L260P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363189	NM_001398.3(ECH1):c.775G>A (p.Ala259Thr)	ECH1 (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274405	NM_001398.3(ECH1):c.736G>A (p.Val246Met)	ECH1 (V246M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274407	NM_001398.3(ECH1):c.710C>T (p.Ala237Val)	ECH1 (A237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490937	NM_001398.3(ECH1):c.696G>C (p.Met232Ile)	ECH1 (M232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296248	NM_001398.3(ECH1):c.688C>T (p.Arg230Cys)	ECH1 (R230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559111	NM_001398.3(ECH1):c.649G>A (p.Gly217Arg)	ECH1 (G217R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3086936	NM_001398.3(ECH1):c.469G>A (p.Glu157Lys)	ECH1 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214762	NM_001398.3(ECH1):c.463G>A (p.Val155Ile)	ECH1 (V155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248132	NM_001398.3(ECH1):c.433A>T (p.Ile145Phe)	ECH1 (I145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243256	NM_001398.3(ECH1):c.420G>C (p.Trp140Cys)	ECH1 (W140C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616423	NM_001398.3(ECH1):c.392A>G (p.Lys131Arg)	ECH1 (K131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559112	NM_001398.3(ECH1):c.375G>A (p.Ser125=)	ECH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2219676	NM_001398.3(ECH1):c.350G>A (p.Gly117Asp)	ECH1 (G117D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559113	NM_001398.3(ECH1):c.349+27C>G	ECH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559114	NM_001398.3(ECH1):c.349+9C>G	ECH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2276964	NM_001398.3(ECH1):c.344C>T (p.Thr115Ile)	ECH1 (T115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331254	NM_001398.3(ECH1):c.303C>G (p.Asp101Glu)	ECH1 (D101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401229	NM_001398.3(ECH1):c.284A>G (p.Lys95Arg)	ECH1 (K95R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2276426	NM_001398.3(ECH1):c.283A>C (p.Lys95Gln)	ECH1 (K95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495044	NM_001398.3(ECH1):c.264G>T (p.Glu88Asp)	ECH1 (E88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086934	NM_001398.3(ECH1):c.206A>G (p.His69Arg)	ECH1 (H69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559115	NM_001398.3(ECH1):c.122A>C (p.Glu41Ala)	ECH1 (E41A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2608476	NM_001398.3(ECH1):c.116A>G (p.Gln39Arg)	ECH1 (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086937	NM_001398.3(ECH1):c.88A>T (p.Ser30Cys)	ECH1 (S30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546956	NM_001398.3(ECH1):c.77G>A (p.Gly26Glu)	ECH1 (G26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29