ECI1[gene] and "single gene"[properties] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3086959	NM_001919.4(ECI1):c.899A>G (p.Glu300Gly)	ECI1 (E300G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086958	NM_001919.4(ECI1):c.873G>T (p.Gln291His)	ECI1 (Q274H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517806	NM_001919.4(ECI1):c.851A>T (p.Asp284Val)	ECI1 (D267V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463127	NM_001919.4(ECI1):c.820G>A (p.Val274Met)	ECI1 (V274M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301281	NM_001919.4(ECI1):c.818A>G (p.Asp273Gly)	ECI1 (D273G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086957	NM_001919.4(ECI1):c.809G>A (p.Arg270His)	ECI1 (R270H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386280	NM_001919.4(ECI1):c.794G>A (p.Arg265His)	ECI1 (R265H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393605	NM_001919.4(ECI1):c.793C>T (p.Arg265Cys)	ECI1 (R265C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 546766	NM_001919.4(ECI1):c.785C>T (p.Thr262Met)	ECI1 (T262M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2509012	NM_001919.4(ECI1):c.776G>A (p.Arg259Gln)	ECI1 (R259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086956	NM_001919.4(ECI1):c.719T>C (p.Ile240Thr)	ECI1 (I223T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342157	NM_001919.4(ECI1):c.641C>T (p.Pro214Leu)	ECI1 (P214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495691	NM_001919.4(ECI1):c.622C>A (p.Leu208Met)	ECI1 (L208M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274412	NM_001919.4(ECI1):c.592G>A (p.Gly198Arg)	ECI1 (G198R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224107	NM_001919.4(ECI1):c.589A>T (p.Ile197Phe)	ECI1 (I180F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218600	NM_001919.4(ECI1):c.580G>A (p.Glu194Lys)	ECI1 (E194K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274414	NM_001919.4(ECI1):c.490C>G (p.Arg164Gly)	ECI1 (R164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207097	NM_001919.4(ECI1):c.416A>T (p.Asn139Ile)	ECI1 (N139I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269600	NM_001919.4(ECI1):c.400C>T (p.Arg134Trp)	ECI1 (R134W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351112	NM_001919.4(ECI1):c.382G>A (p.Val128Ile)	ECI1 (V128I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086955	NM_001919.4(ECI1):c.378G>T (p.Lys126Asn)	ECI1 (K126N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242488	NM_001919.4(ECI1):c.361T>C (p.Tyr121His)	ECI1 (Y121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385097	NM_001919.4(ECI1):c.355G>A (p.Ala119Thr)	ECI1 (A119T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331973	NM_001919.4(ECI1):c.334G>A (p.Glu112Lys)	ECI1 (E112K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086954	NM_001919.4(ECI1):c.332C>T (p.Thr111Met)	ECI1 (T111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689000	NM_001919.4(ECI1):c.300_303dup (p.Gly102fs)	ECI1 (G102fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2590456	NM_001919.4(ECI1):c.302C>T (p.Pro101Leu)	ECI1 (P101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782406	NM_001919.4(ECI1):c.299G>A (p.Arg100His)	ECI1 (R100H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2372048	NM_001919.4(ECI1):c.274C>T (p.Arg92Cys)	ECI1 (R92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 979155	NM_001919.4(ECI1):c.227C>T (p.Thr76Met)	ECI1 (T76M)	Single nucleotide variant (missense variant)	Complex I deficiency +1 more	GBenign

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Items: 30