C3554415[trait identifier] AND "University of Washington Center for Me - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235818	NM_004826.3(ECEL1):c.[1184+3A>T;1252C>A]	ECEL1 (R418S)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis type 5D	GPathogenic
Select item 235817	NM_004826.3(ECEL1):c.[1252C>T;590G>A]	ECEL1 (R418C +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 235819	NM_004826.4(ECEL1):c.1184G>A (p.Arg395Gln)	ECEL1 (R395Q)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 242403	NM_004826.4(ECEL1):c.869A>G (p.Tyr290Cys)	ECEL1 (Y290C)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 242402	NM_004826.4(ECEL1):c.797_801delinsGCT (p.Asp266fs)	ECEL1 (D266fs)	Indel (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic
Select item 235821	NM_004826.3(ECEL1):c.[344_355delACCTGGACGCCA;716dupA]	ECEL1 (Y239*)	Duplication (nonsense +1 more)	Distal arthrogryposis type 5D	GPathogenic
Select item 39488	NM_004826.4(ECEL1):c.716dup (p.Tyr239Ter)	ECEL1 (Y239*)	Duplication (nonsense)	Distal arthrogryposis type 5D	GPathogenic

ClinVar