C3554415[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806076	NM_004826.4(ECEL1):c.1531G>A (p.Gly511Ser)	ECEL1 (G511S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 2500295	NM_004826.4(ECEL1):c.1253G>A (p.Arg418His)	ECEL1 (R418H)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic