"Ambry Genetics"[submitter] AND "NET1"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2313766	NM_001047160.3(NET1):c.289C>T (p.Arg97Cys)	NET1 (R97C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312503	NM_001047160.3(NET1):c.290G>A (p.Arg97His)	NET1 (R97H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320092	NM_001047160.3(NET1):c.394C>T (p.Pro132Ser)	NET1 (P132S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220540	NM_001047160.3(NET1):c.523C>T (p.Arg175Trp)	NET1 (R121W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457625	NM_001047160.3(NET1):c.551G>A (p.Arg184Gln)	NET1 (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351876	NM_001047160.3(NET1):c.569T>C (p.Ile190Thr)	NET1 (I136T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334987	NM_001047160.3(NET1):c.782A>G (p.Asn261Ser)	NET1 (N207S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2316358	NM_001047160.3(NET1):c.821A>G (p.Lys274Arg)	NET1 (K274R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523384	NM_001047160.3(NET1):c.824C>T (p.Ala275Val)	NET1 (A221V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379091	NM_001047160.3(NET1):c.1221A>C (p.Gln407His)	NET1 (Q353H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552530	NM_001047160.3(NET1):c.1267T>C (p.Ser423Pro)	NET1 (S369P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392063	NM_001047160.3(NET1):c.1406G>A (p.Arg469His)	NET1 (R415H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351025	NM_001047160.3(NET1):c.1456G>A (p.Val486Met)	NET1 (V486M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389524	NM_001047160.3(NET1):c.1490G>A (p.Arg497Gln)	NET1 (R497Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488467	NM_001047160.3(NET1):c.1504C>T (p.Pro502Ser)	NET1 (P448S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333485	NM_001047160.3(NET1):c.1505C>G (p.Pro502Arg)	NET1 (P448R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553368	NM_001047160.3(NET1):c.1547C>T (p.Pro516Leu)	NET1 (P462L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2560041	NM_001047160.3(NET1):c.1562A>T (p.Glu521Val)	NET1 (E467V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338582	NM_001047160.3(NET1):c.1627A>G (p.Ser543Gly)	NET1 (S543G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353051	NM_001047160.3(NET1):c.1742C>T (p.Ala581Val)	NET1 (A581V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520002	NM_001047160.3(NET1):c.1766G>T (p.Gly589Val)	NET1 (G535V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21