C3554415[trait identifier] AND "Lupski Lab, Baylor-Hopkins CMG, Baylor - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161451	NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)	ECEL1 (A675T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 816826	NM_004826.4(ECEL1):c.1916C>T (p.Ser639Phe)	ECEL1 (S637F +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GUncertain significance
Select item 816801	NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys)	ECEL1 (R544C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 816825	NM_004826.4(ECEL1):c.1581+1G>A	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GPathogenic
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 816827	NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter)	ECEL1 (Q383*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 5D	GPathogenic
Select item 816799	NM_004826.4(ECEL1):c.505_529del (p.Gly169fs)	ECEL1 (G169fs)	Deletion (frameshift variant)	Distal arthrogryposis type 5D	GPathogenic

ClinVar