"Ambry Genetics"[submitter] AND "NPR3"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3201771	NM_001204375.2(NPR3):c.43C>G (p.Leu15Val)	LOC123493284, NPR3 (L15V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201772	NM_001204375.2(NPR3):c.64G>A (p.Gly22Ser)	LOC123493284, NPR3 (G22S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300844	NM_001204375.2(NPR3):c.128A>T (p.Gln43Leu)	LOC123493284, NPR3 (Q43L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242084	NM_001204375.2(NPR3):c.157A>G (p.Ile53Val)	LOC123493284, NPR3 (I53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2073147	NM_001204375.2(NPR3):c.272G>T (p.Arg91Leu)	LOC123493284, NPR3 (R91L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3201769	NM_001204375.2(NPR3):c.287G>A (p.Gly96Asp)	LOC123493284, NPR3 (G96D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201770	NM_001204375.2(NPR3):c.354C>A (p.Asp118Glu)	LOC123493284, NPR3 (D118E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300846	NM_001204375.2(NPR3):c.598G>T (p.Ala200Ser)	LOC123493284, NPR3 (A200S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308563	NM_001204375.2(NPR3):c.626T>A (p.Leu209Gln)	LOC123493284, NPR3 (L209Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1387753	NM_001204375.2(NPR3):c.683G>A (p.Gly228Asp)	LOC123493284, NPR3 (G228D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1376340	NM_001204375.2(NPR3):c.688C>T (p.His230Tyr)	LOC123493284, NPR3 (H230Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3300848	NM_001204375.2(NPR3):c.714G>T (p.Glu238Asp)	LOC123493284, NPR3 (E238D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481594	NM_001204375.2(NPR3):c.743T>C (p.Val248Ala)	LOC123493284, NPR3 (V248A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1519290	NM_001204375.2(NPR3):c.763G>C (p.Glu255Gln)	LOC123493284, NPR3 (E255Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2537237	NM_001204375.2(NPR3):c.770T>C (p.Val257Ala)	NPR3 (L17S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3300845	NM_001204375.2(NPR3):c.799A>C (p.Ile267Leu)	NPR3 (I27L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3201773	NM_001204375.2(NPR3):c.820G>A (p.Ala274Thr)	NPR3 (A34T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1461257	NM_001204375.2(NPR3):c.821C>T (p.Ala274Val)	NPR3 (A34V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3300847	NM_001204375.2(NPR3):c.961A>T (p.Thr321Ser)	NPR3 (T81S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312854	NM_001204375.2(NPR3):c.1095C>G (p.Ile365Met)	NPR3 (I108M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1367552	NM_001204375.2(NPR3):c.1118A>G (p.His373Arg)	NPR3 (H373R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3201767	NM_001204375.2(NPR3):c.1132G>A (p.Ala378Thr)	NPR3 (A162T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334898	NM_001204375.2(NPR3):c.1222G>A (p.Ala408Thr)	NPR3 (A408T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201768	NM_001204375.2(NPR3):c.1273G>A (p.Glu425Lys)	NPR3 (E185K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338103	NM_001204375.2(NPR3):c.1322G>A (p.Arg441His)	NPR3 (R225H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1375566	NM_001204375.2(NPR3):c.1358G>A (p.Gly453Asp)	NPR3 (G237D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2556822	NM_001204375.2(NPR3):c.1412C>T (p.Ser471Phe)	NPR3 (S214F +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1915137	NM_001204375.2(NPR3):c.1439A>G (p.Glu480Gly)	NPR3 (E223G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2480639	NM_001204375.2(NPR3):c.1441G>C (p.Glu481Gln)	NPR3 (E265Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478834	NM_001204375.2(NPR3):c.1451T>C (p.Val484Ala)	NPR3 (V244A +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1597593	NM_001204375.2(NPR3):c.1588C>T (p.Arg530Trp)	NPR3 (R273W +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 31