"Revvity Omics, Revvity"[submitter] AND "ECEL1"[gene] - ClinVar - NCBI

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Items: 9

	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 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 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 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 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 191152	NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)	ECEL1 (R404C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 2441171	NM_004826.4(ECEL1):c.98T>A (p.Leu33Gln)	ECEL1 (L33Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance