ClinVar for MedGen (Select 1840207) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506511	NM_001363.5(DKC1):c.616G>A (p.Glu206Lys)	DKC1	Single nucleotide variant (missense variant +1 more)	Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	GPathogenic
Select item 1434341	NM_001363.5(DKC1):c.253G>A (p.Asp85Asn)	DKC1 (D85N)	Single nucleotide variant (missense variant +1 more)	Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 +2 more	GConflicting classifications of pathogenicity