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

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405877	NM_003285.3(TNR):c.4037G>A (p.Arg1346His)	TNR (R1346H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180576	NM_003285.3(TNR):c.4033C>G (p.His1345Asp)	TNR (H1345D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233685	NM_003285.3(TNR):c.3959G>A (p.Gly1320Asp)	TNR (G1320D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180575	NM_003285.3(TNR):c.3937G>A (p.Gly1313Arg)	TNR (G1313R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476773	NM_003285.3(TNR):c.3878C>T (p.Ser1293Leu)	TNR (S1293L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1895404	NM_003285.3(TNR):c.3820C>T (p.Arg1274Cys)	TNR (R1274C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2526264	NM_003285.3(TNR):c.3769A>C (p.Ile1257Leu)	TNR (I1257L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2480936	NM_003285.3(TNR):c.3697G>A (p.Gly1233Ser)	TNR (G1233S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393292	NM_003285.3(TNR):c.3692G>A (p.Arg1231Gln)	TNR (R898Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220183	NM_003285.3(TNR):c.3610G>A (p.Val1204Met)	TNR (V1204M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333053	NM_003285.3(TNR):c.3608A>G (p.Asn1203Ser)	TNR (N870S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622673	NM_003285.3(TNR):c.3560A>T (p.Gln1187Leu)	TNR (Q854L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254298	NM_003285.3(TNR):c.3514A>G (p.Thr1172Ala)	TNR (T839A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455219	NM_003285.3(TNR):c.3370G>A (p.Ala1124Thr)	TNR (A791T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180572	NM_003285.3(TNR):c.3358A>G (p.Ile1120Val)	TNR (I787V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283393	NM_003285.3(TNR):c.3355A>G (p.Ser1119Gly)	TNR (S786G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180571	NM_003285.3(TNR):c.3344C>A (p.Thr1115Asn)	TNR (T782N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512110	NM_003285.3(TNR):c.3275C>A (p.Thr1092Asn)	TNR (T1092N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210402	NM_003285.3(TNR):c.3274A>T (p.Thr1092Ser)	TNR (T1092S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180570	NM_003285.3(TNR):c.3238G>A (p.Gly1080Arg)	TNR (G1080R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180569	NM_003285.3(TNR):c.3235G>A (p.Asp1079Asn)	TNR (D746N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471958	NM_003285.3(TNR):c.3214G>A (p.Val1072Ile)	TNR (V739I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2400127	NM_003285.3(TNR):c.3193A>G (p.Arg1065Gly)	TNR (R1065G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365016	NM_003285.3(TNR):c.3088A>G (p.Ser1030Gly)	TNR (S697G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360903	NM_003285.3(TNR):c.3020G>A (p.Arg1007Gln)	TNR (R674Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3180568	NM_003285.3(TNR):c.2911C>A (p.Leu971Met)	TNR (L638M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397343	NM_003285.3(TNR):c.2879T>C (p.Ile960Thr)	TNR (I627T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2475217	NM_003285.3(TNR):c.2840C>T (p.Thr947Ile)	TNR (T614I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180566	NM_003285.3(TNR):c.2782G>A (p.Glu928Lys)	TNR (E595K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303013	NM_003285.3(TNR):c.2773C>A (p.Pro925Thr)	TNR (P592T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180565	NM_003285.3(TNR):c.2657C>G (p.Pro886Arg)	TNR (P886R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523824	NM_003285.3(TNR):c.2567T>C (p.Ile856Thr)	TNR (I523T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180563	NM_003285.3(TNR):c.2524G>T (p.Val842Leu)	TNR (V509L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597908	NM_003285.3(TNR):c.2448G>C (p.Glu816Asp)	TNR (E816D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207103	NM_003285.3(TNR):c.2434G>T (p.Asp812Tyr)	TNR (D479Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476740	NM_003285.3(TNR):c.2408G>C (p.Arg803Thr)	TNR (R470T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484035	NM_003285.3(TNR):c.2371A>G (p.Asn791Asp)	TNR (N458D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805594	NM_003285.3(TNR):c.2324G>A (p.Arg775His)	TNR (R442H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus +1 more	GUncertain significance
Select item 2225403	NM_003285.3(TNR):c.2208G>C (p.Arg736Ser)	TNR (R736S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511667	NM_003285.3(TNR):c.2026G>A (p.Val676Met)	TNR (V343M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371381	NM_003285.3(TNR):c.1939C>G (p.Pro647Ala)	TNR (P647A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410126	NM_003285.3(TNR):c.1936G>C (p.Gly646Arg)	TNR (G646R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180562	NM_003285.3(TNR):c.1877T>C (p.Val626Ala)	TNR (V293A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392799	NM_003285.3(TNR):c.1858G>A (p.Glu620Lys)	TNR (E287K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463497	NM_003285.3(TNR):c.1814G>A (p.Arg605His)	TNR (R272H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224861	NM_003285.3(TNR):c.1774A>G (p.Thr592Ala)	TNR (T592A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3180561	NM_003285.3(TNR):c.1735G>A (p.Gly579Arg)	TNR (G246R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333444	NM_003285.3(TNR):c.1729G>A (p.Val577Ile)	TNR (V577I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3180560	NM_003285.3(TNR):c.1706G>T (p.Arg569Leu)	TNR (R569L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296928	NM_003285.3(TNR):c.1660C>G (p.Pro554Ala)	TNR (P554A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303960	NM_003285.3(TNR):c.1652G>T (p.Arg551Leu)	TNR (R551L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364392	NM_003285.3(TNR):c.1577C>T (p.Pro526Leu)	TNR (P193L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508757	NM_003285.3(TNR):c.1543G>A (p.Val515Ile)	TNR (V515I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614503	NM_003285.3(TNR):c.1538G>T (p.Arg513Leu)	TNR (R180L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604892	NM_003285.3(TNR):c.1516G>T (p.Gly506Cys)	TNR (G173C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383111	NM_003285.3(TNR):c.1498G>A (p.Val500Ile)	TNR (V500I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252664	NM_003285.3(TNR):c.1148C>A (p.Thr383Lys)	TNR (T383K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376777	NM_003285.3(TNR):c.1115G>A (p.Arg372Gln)	TNR (R372Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398333	NM_003285.3(TNR):c.1058C>T (p.Thr353Met)	TNR (T353M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180558	NM_003285.3(TNR):c.1055T>G (p.Val352Gly)	TNR (V352G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180557	NM_003285.3(TNR):c.1033G>A (p.Glu345Lys)	TNR (E345K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180556	NM_003285.3(TNR):c.1018A>G (p.Arg340Gly)	TNR (R340G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2350384	NM_003285.3(TNR):c.1015G>A (p.Asp339Asn)	TNR (D339N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228239	NM_003285.3(TNR):c.998G>A (p.Arg333Gln)	TNR (R333Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230788	NM_003285.3(TNR):c.953A>G (p.Tyr318Cys)	TNR (Y318C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510145	NM_003285.3(TNR):c.952T>C (p.Tyr318His)	TNR (Y318H)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402962	NM_003285.3(TNR):c.924G>T (p.Glu308Asp)	TNR (R10M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292497	NM_003285.3(TNR):c.826T>C (p.Cys276Arg)	TNR (C276R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180579	NM_003285.3(TNR):c.761A>G (p.Glu254Gly)	TNR (E254G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300607	NM_003285.3(TNR):c.728G>C (p.Gly243Ala)	TNR (G243A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180578	NM_003285.3(TNR):c.685G>A (p.Asp229Asn)	TNR (D229N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475542	NM_003285.3(TNR):c.637G>A (p.Val213Met)	TNR (V213M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347426	NM_003285.3(TNR):c.632G>A (p.Arg211Gln)	TNR (R211Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223394	NM_003285.3(TNR):c.607T>C (p.Tyr203His)	TNR (Y203H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494056	NM_003285.3(TNR):c.560G>A (p.Gly187Asp)	TNR (G187D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371747	NM_003285.3(TNR):c.518C>G (p.Pro173Arg)	TNR (P173R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263215	NM_003285.3(TNR):c.502C>G (p.Gln168Glu)	TNR (Q168E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 224864	NM_003285.3(TNR):c.496A>G (p.Thr166Ala)	TNR (T166A)	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson disease +2 more	GConflicting classifications of pathogenicity
Select item 3180577	NM_003285.3(TNR):c.455G>A (p.Arg152Gln)	TNR (R152Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206006	NM_003285.3(TNR):c.398T>C (p.Val133Ala)	TNR (V133A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231534	NM_003285.3(TNR):c.365A>G (p.Lys122Arg)	TNR (K122R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180573	NM_003285.3(TNR):c.337A>G (p.Thr113Ala)	TNR (T113A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1700303	NM_003285.3(TNR):c.314C>A (p.Thr105Asn)	TNR (T105N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2225467	NM_003285.3(TNR):c.311A>G (p.Gln104Arg)	TNR (Q104R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409736	NM_003285.3(TNR):c.301T>C (p.Tyr101His)	TNR (Y101H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180567	NM_003285.3(TNR):c.286G>A (p.Glu96Lys)	TNR (E96K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372765	NM_003285.3(TNR):c.167C>T (p.Thr56Ile)	TNR (T56I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180559	NM_003285.3(TNR):c.149G>A (p.Gly50Asp)	TNR (G50D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471206	NM_003285.3(TNR):c.71C>A (p.Ser24Tyr)	TNR (S24Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3180564	NM_003285.3(TNR):c.25G>A (p.Val9Ile)	TNR (V9I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 90