C3554415[trait identifier] AND "Centogene AG - the Rare Disease Compan - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521056	NM_004826.4(ECEL1):c.494T>C (p.Leu165Pro)	ECEL1 (L165P)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +3 more	GConflicting classifications of pathogenicity
Select item 1333926	NM_004826.4(ECEL1):c.100C>T (p.Pro34Ser)	ECEL1 (P34S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 5D +1 more	GUncertain significance