"Ambry Genetics"[submitter] AND "DNASE2"[gene] - ClinVar - NCBI

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Items: 18

	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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2324924	NM_001375.3(DNASE2):c.1050G>A (p.Met350Ile)	DNASE2 (M350I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1346441	NM_001375.3(DNASE2):c.1016C>T (p.Pro339Leu)	DNASE2 (P339L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2539687	NM_001375.3(DNASE2):c.893G>T (p.Trp298Leu)	DNASE2 (W298L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1492191	NM_001375.3(DNASE2):c.856G>A (p.Gly286Ser)	DNASE2 (G286S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2489869	NM_001375.3(DNASE2):c.830A>G (p.Asn277Ser)	DNASE2 (N277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2067417	NM_001375.3(DNASE2):c.821T>G (p.Leu274Arg)	DNASE2 (L274R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3084630	NM_001375.3(DNASE2):c.800G>C (p.Cys267Ser)	DNASE2 (C267S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328704	NM_001375.3(DNASE2):c.740T>G (p.Leu247Arg)	DNASE2 (L247R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1510924	NM_001375.3(DNASE2):c.721G>A (p.Gly241Ser)	DNASE2 (G241S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1916061	NM_001375.3(DNASE2):c.601G>A (p.Val201Ile)	DNASE2 (V201I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1985157	NM_001375.3(DNASE2):c.565A>T (p.Ile189Phe)	DNASE2 (I189F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1374279	NM_001375.3(DNASE2):c.510G>A (p.Met170Ile)	DNASE2 (M170I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2058616	NM_001375.3(DNASE2):c.509T>C (p.Met170Thr)	DNASE2 (M170T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1525461	NM_001375.3(DNASE2):c.487C>T (p.Pro163Ser)	DNASE2 (P163S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1351974	NM_001375.3(DNASE2):c.477T>G (p.Cys159Trp)	DNASE2 (C159W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2206999	NM_001375.3(DNASE2):c.168G>C (p.Glu56Asp)	DNASE2, LOC117125588 (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1354215	NM_001375.3(DNASE2):c.121T>G (p.Ser41Ala)	DNASE2, LOC117125588 (S41A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance