"Institute of Human Genetics, Cologne University"[submitter] AND "ECEL - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599020	NM_004826.4(ECEL1):c.1990-3C>G	ECEL1	Single nucleotide variant (intron variant)	Distal arthrogryposis type 5D	GLikely pathogenic
Select item 590922	NM_004826.4(ECEL1):c.1A>G (p.Met1Val)	ECEL1 (M1V)	Single nucleotide variant (missense variant +1 more)	Distal arthrogryposis type 5D	GLikely pathogenic