"Ambry Genetics"[submitter] AND "ECEL1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2256361	NM_004826.4(ECEL1):c.2320G>A (p.Val774Met)	ECEL1 (V774M +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +2 more	GUncertain significance
Select item 2362247	NM_004826.4(ECEL1):c.2311A>G (p.Lys771Glu)	ECEL1 (K771E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598673	NM_004826.4(ECEL1):c.2297T>C (p.Met766Thr)	ECEL1 (M766T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274403	NM_004826.4(ECEL1):c.2289C>G (p.Asp763Glu)	ECEL1 (D761E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254457	NM_004826.4(ECEL1):c.2266C>T (p.Arg756Trp)	ECEL1 (R754W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3086930	NM_004826.4(ECEL1):c.2242G>T (p.Val748Leu)	ECEL1 (V746L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214787	NM_004826.4(ECEL1):c.2171G>A (p.Arg724Gln)	ECEL1 (R724Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227570	NM_004826.4(ECEL1):c.2006C>T (p.Thr669Met)	ECEL1 (T667M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752616	NM_004826.4(ECEL1):c.1990-6C>T	ECEL1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3274399	NM_004826.4(ECEL1):c.1955G>A (p.Arg652His)	ECEL1 (R650H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2466257	NM_004826.4(ECEL1):c.1879C>T (p.Arg627Cys)	ECEL1 (R625C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550271	NM_004826.4(ECEL1):c.1867G>T (p.Gly623Cys)	ECEL1 (G621C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274404	NM_004826.4(ECEL1):c.1813G>A (p.Gly605Ser)	ECEL1 (G603S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521849	NM_004826.4(ECEL1):c.1810G>T (p.Gly604Trp)	ECEL1 (G604W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521848	NM_004826.4(ECEL1):c.1700C>G (p.Pro567Arg)	ECEL1 (P567R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance
Select item 3274400	NM_004826.4(ECEL1):c.1673T>C (p.Val558Ala)	ECEL1 (V558A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086929	NM_004826.4(ECEL1):c.1631G>A (p.Arg544His)	ECEL1 (R544H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757338	NM_004826.4(ECEL1):c.1499G>A (p.Arg500Gln)	ECEL1 (R500Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3086928	NM_004826.4(ECEL1):c.1451G>A (p.Arg484His)	ECEL1 (R484H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086926	NM_004826.4(ECEL1):c.1445G>A (p.Gly482Asp)	ECEL1 (G482D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086925	NM_004826.4(ECEL1):c.1315C>T (p.Arg439Trp)	ECEL1 (R439W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086924	NM_004826.4(ECEL1):c.1289G>T (p.Gly430Val)	ECEL1 (G430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274402	NM_004826.4(ECEL1):c.1153G>A (p.Val385Met)	ECEL1 (V385M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2153982	NM_004826.4(ECEL1):c.1146G>A (p.Met382Ile)	ECEL1 (M382I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1151649	NM_004826.4(ECEL1):c.1064G>A (p.Arg355Gln)	ECEL1 (R355Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3086923	NM_004826.4(ECEL1):c.1063C>T (p.Arg355Trp)	ECEL1 (R355W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274401	NM_004826.4(ECEL1):c.1028C>T (p.Thr343Met)	ECEL1 (T343M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394702	NM_004826.4(ECEL1):c.988G>A (p.Asp330Asn)	ECEL1 (D330N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319139	NM_004826.4(ECEL1):c.953A>C (p.Gln318Pro)	ECEL1 (Q318P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460123	NM_004826.4(ECEL1):c.940C>A (p.Leu314Met)	ECEL1 (L314M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277441	NM_004826.4(ECEL1):c.937A>G (p.Ile313Val)	ECEL1 (I313V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086933	NM_004826.4(ECEL1):c.913G>A (p.Ala305Thr)	ECEL1 (A305T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086931	NM_004826.4(ECEL1):c.572G>A (p.Arg191His)	ECEL1 (R191H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1030846	NM_004826.4(ECEL1):c.512G>C (p.Gly171Ala)	ECEL1 (G171A)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance
Select item 521056	NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)	ECEL1 (L165P)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +3 more	GConflicting classifications of pathogenicity
Select item 2477971	NM_004826.4(ECEL1):c.475G>C (p.Glu159Gln)	ECEL1 (E159Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538759	NM_004826.4(ECEL1):c.394G>A (p.Gly132Ser)	ECEL1 (G132S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258548	NM_004826.4(ECEL1):c.378C>A (p.Phe126Leu)	ECEL1 (F126L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407743	NM_004826.4(ECEL1):c.202T>C (p.Phe68Leu)	ECEL1 (F68L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615791	NM_004826.4(ECEL1):c.199G>C (p.Val67Leu)	ECEL1 (V67L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 435024	NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)	ECEL1 (F37fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2389779	NM_004826.4(ECEL1):c.137C>A (p.Thr46Asn)	ECEL1 (T46N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358907	NM_004826.4(ECEL1):c.136A>C (p.Thr46Pro)	ECEL1 (T46P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358876	NM_004826.4(ECEL1):c.130A>C (p.Ser44Arg)	ECEL1 (S44R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374575	NM_004826.4(ECEL1):c.110T>G (p.Phe37Cys)	ECEL1 (F37C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481766	NM_004826.4(ECEL1):c.100C>A (p.Pro34Thr)	ECEL1 (P34T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333926	NM_004826.4(ECEL1):c.100C>T (p.Pro34Ser)	ECEL1 (P34S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance
Select item 2204035	NM_004826.4(ECEL1):c.70G>T (p.Gly24Cys)	ECEL1 (G24C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473642	NM_004826.4(ECEL1):c.55T>C (p.Tyr19His)	ECEL1 (Y19H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086932	NM_004826.4(ECEL1):c.7C>T (p.Pro3Ser)	ECEL1 (P3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 50