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

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1213573	NM_031475.3(ESPN):c.36G>T (p.Gln12His)	ESPN (Q12H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2307883	NM_031475.3(ESPN):c.94C>T (p.Arg32Cys)	ESPN (R32C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296638	NM_031475.3(ESPN):c.175G>A (p.Ala59Thr)	ESPN (A59T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254240	NM_031475.3(ESPN):c.338G>A (p.Arg113His)	ESPN (R113H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2219197	NM_031475.3(ESPN):c.390C>G (p.Asp130Glu)	ESPN (D130E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308063	NM_031475.3(ESPN):c.398C>T (p.Ala133Val)	ESPN (A133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2388498	NM_031475.3(ESPN):c.607G>A (p.Ala203Thr)	ESPN (A203T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323536	NM_031475.3(ESPN):c.680G>A (p.Ser227Asn)	ESPN (S227N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556010	NM_031475.3(ESPN):c.718G>T (p.Gly240Cys)	ESPN (G240C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336162	NM_031475.3(ESPN):c.882C>G (p.Asn294Lys)	ESPN (N294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314326	NM_031475.3(ESPN):c.945C>G (p.Asn315Lys)	ESPN (N315K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486228	NM_031475.3(ESPN):c.953G>A (p.Ser318Asn)	ESPN (S318N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389727	NM_031475.3(ESPN):c.1003C>T (p.Arg335Cys)	ESPN (R335C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 163411	NM_031475.3(ESPN):c.1016G>A (p.Arg339Gln)	ESPN (R339Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2484637	NM_031475.3(ESPN):c.1085C>G (p.Ser362Trp)	ESPN (S362W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547844	NM_031475.3(ESPN):c.1117C>T (p.Pro373Ser)	ESPN (P373S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220426	NM_031475.3(ESPN):c.1120A>G (p.Thr374Ala)	ESPN (T374A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1924508	NM_031475.3(ESPN):c.1182C>A (p.His394Gln)	ESPN (H394Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1400704	NM_031475.3(ESPN):c.1186C>T (p.Pro396Ser)	ESPN (P396S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2293228	NM_031475.3(ESPN):c.1187C>G (p.Pro396Arg)	ESPN (P396R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227503	NM_031475.3(ESPN):c.1189T>C (p.Cys397Arg)	ESPN (C397R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2288515	NM_031475.3(ESPN):c.1204G>A (p.Ala402Thr)	ESPN (A402T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358942	NM_031475.3(ESPN):c.1285A>C (p.Thr429Pro)	ESPN (T429P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211562	NM_031475.3(ESPN):c.1333G>A (p.Gly445Ser)	ESPN (G445S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490379	NM_031475.3(ESPN):c.1375A>G (p.Lys459Glu)	ESPN (K459E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600862	NM_031475.3(ESPN):c.1438G>A (p.Val480Met)	ESPN (V480M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1343069	NM_031475.3(ESPN):c.1489G>A (p.Gly497Arg)	ESPN (G497R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1368684	NM_031475.3(ESPN):c.1604C>T (p.Pro535Leu)	ESPN (P535L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1506781	NM_031475.3(ESPN):c.1628T>G (p.Val543Gly)	ESPN (V543G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1254031	NM_031475.3(ESPN):c.1646C>T (p.Ala549Val)	ESPN (A549V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2622911	NM_031475.3(ESPN):c.1679C>G (p.Ala560Gly)	ESPN (A560G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1196872	NM_031475.3(ESPN):c.1681C>T (p.Arg561Cys)	ESPN (R561C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2175470	NM_031475.3(ESPN):c.1712C>T (p.Pro571Leu)	ESPN (P571L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 449865	NM_031475.3(ESPN):c.1760C>T (p.Ala587Val)	ESPN (A587V +1 more)	Single nucleotide variant (missense variant)	ESPN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2489629	NM_031475.3(ESPN):c.1771G>T (p.Ala591Ser)	ESPN (A561S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1207435	NM_031475.3(ESPN):c.1787C>T (p.Pro596Leu)	ESPN (P566L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1306964	NM_031475.3(ESPN):c.2003C>T (p.Thr668Met)	ESPN (T638M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2354149	NM_031475.3(ESPN):c.2053G>A (p.Ala685Thr)	ESPN (A685T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376015	NM_031475.3(ESPN):c.2141C>T (p.Pro714Leu)	ESPN (P714L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 523541	NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser)	ESPN (N717S +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 2311151	NM_031475.3(ESPN):c.2206G>C (p.Val736Leu)	ESPN (V736L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530358	NM_031475.3(ESPN):c.2243G>A (p.Arg748Gln)	ESPN (R718Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 225044	NM_031475.3(ESPN):c.2257T>C (p.Trp753Arg)	ESPN (W753R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1210564	NM_031475.3(ESPN):c.2266C>G (p.Gln756Glu)	ESPN (Q726E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2524142	NM_031475.3(ESPN):c.2267A>G (p.Gln756Arg)	ESPN (Q726R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510835	NM_031475.3(ESPN):c.2344C>T (p.Arg782Trp)	ESPN (R752W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678674	NM_031475.3(ESPN):c.2416C>T (p.Arg806Trp)	ESPN (R776W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449866	NM_031475.3(ESPN):c.2486C>T (p.Thr829Met)	ESPN (T829M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 48