"DNASE2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1063143	NM_001375.3(DNASE2):c.1079T>G (p.Ile360Ser)	DNASE2 (I360S)	Single nucleotide variant (missense variant)	DNASE2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1510198	NM_001375.3(DNASE2):c.709+4A>T	DNASE2	Single nucleotide variant (intron variant)	DNASE2-related disorder +1 more	GUncertain significance
Select item 2637371	NM_001375.3(DNASE2):c.463C>G (p.Gln155Glu)	DNASE2 (Q155E)	Single nucleotide variant (missense variant)	DNASE2-related disorder	GUncertain significance
Select item 2628708	NM_001375.3(DNASE2):c.330G>A (p.Met110Ile)	DNASE2 (M110I)	Single nucleotide variant (missense variant)	DNASE2-related disorder	GUncertain significance
Select item 2629906	NM_001375.3(DNASE2):c.71G>A (p.Gly24Glu)	DNASE2, LOC117125588 (G24E)	Single nucleotide variant (missense variant)	DNASE2-related disorder	GUncertain significance

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