ClinVar (all) for Orgtrack (Select 508727) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703721	NM_138477.4(CDAN1):c.2087T>A (p.Leu696Gln)	CDAN1 (L696Q)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GPathogenic
Select item 315938	NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)	CDAN1 (R687C)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GBenign/Likely benign