"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1806040	NM_004826.4(ECEL1):c.2151+2T>C	ECEL1	Single nucleotide variant (splice donor variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 1805546	NM_004826.4(ECEL1):c.1907C>T (p.Thr636Met)	ECEL1 (T634M +1 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D	GLikely pathogenic
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

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ClinVar