Related gene-specific medical variations for Gene (Select 9427) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064440	NM_004826.4(ECEL1):c.1865-3C>G	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2688999	NM_004826.4(ECEL1):c.1924C>G (p.Arg642Gly)	ECEL1 (R640G +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2688998	NM_004826.4(ECEL1):c.2039T>G (p.Leu680Arg)	ECEL1 (L678R +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441173	NM_004826.4(ECEL1):c.2279G>T (p.Cys760Phe)	ECEL1 (C758F +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441171	NM_004826.4(ECEL1):c.98T>A (p.Leu33Gln)	ECEL1 (L33Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441170	NM_004826.4(ECEL1):c.1477G>A (p.Ala493Thr)	ECEL1 (A493T)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2441169	NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)	ECEL1 (C123R)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 2428667	NM_004826.4(ECEL1):c.1779C>G (p.Tyr593Ter)	ECEL1 (Y591* +1 more)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 1676535	NM_004826.4(ECEL1):c.626G>T (p.Gly209Val)	ECEL1 (G209V)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676534	NM_004826.4(ECEL1):c.559T>C (p.Cys187Arg)	ECEL1 (C187R)	Single nucleotide variant	not provided	GUncertain significance
Select item 599020	NM_004826.4(ECEL1):c.1990-3C>G	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 590922	NM_004826.4(ECEL1):c.1A>G (p.Met1Val)	ECEL1 (M1V)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 259557	NM_004826.4(ECEL1):c.855+20G>C	ECEL1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 259556	NM_004826.4(ECEL1):c.1890C>T (p.Asn630=)	ECEL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign