ClinVar for MedGen (Select 1823991) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068241	NM_001025248.2(DUT):c.647G>A (p.Arg216Gln)	DUT (R105Q +3 more)	Single nucleotide variant (missense variant)	Bone marrow failure and diabetes mellitus syndrome	GUncertain significance
Select item 1706580	NM_001025248.2(DUT):c.425A>G (p.Tyr142Cys)	DUT (Y142C +3 more)	Single nucleotide variant (missense variant)	Bone marrow failure and diabetes mellitus syndrome	GPathogenic