ClinVar for MedGen (Select 1803642) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2577873	NM_001375.3(DNASE2):c.157T>C (p.Tyr53His)	DNASE2, LOC117125588 (Y53H)	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GUncertain significance
Select item 1686901	NM_001375.3(DNASE2):c.284A>G (p.Tyr95Cys)	DNASE2	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GPathogenic
Select item 1686900	NM_001375.3(DNASE2):c.362A>T (p.Asp121Val)	DNASE2 (D121V)	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GPathogenic
Select item 1686899	NM_001375.3(DNASE2):c.347G>C (p.Gly116Ala)	DNASE2 (G116A)	Single nucleotide variant (missense variant)	Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency	GPathogenic
Select item 1493258	NM_001375.3(DNASE2):c.995C>A (p.Ala332Asp)	DNASE2 (A332D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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