ClinVar for Gene (Select 22795) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200052	NM_007361.4(NID2):c.805C>T (p.His269Tyr)	NID2 (H269Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200051	NM_007361.4(NID2):c.784A>G (p.Ile262Val)	NID2 (I262V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200050	NM_007361.4(NID2):c.779T>G (p.Leu260Arg)	NID2 (L260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200049	NM_007361.4(NID2):c.764A>G (p.Tyr255Cys)	NID2 (Y255C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200047	NM_007361.4(NID2):c.628C>T (p.Arg210Cys)	NID2 (R210C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200046	NM_007361.4(NID2):c.545T>C (p.Phe182Ser)	NID2 (F182S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200045	NM_007361.4(NID2):c.517G>A (p.Ala173Thr)	NID2 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200044	NM_007361.4(NID2):c.404T>C (p.Leu135Pro)	NID2 (L135P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200042	NM_007361.4(NID2):c.3608C>T (p.Thr1203Met)	NID2 (T1203M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200041	NM_007361.4(NID2):c.3589C>T (p.Arg1197Cys)	NID2 (R1197C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200040	NM_007361.4(NID2):c.3587T>C (p.Ile1196Thr)	NID2 (I1196T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200039	NM_007361.4(NID2):c.3536C>T (p.Thr1179Met)	NID2 (T1179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200038	NM_007361.4(NID2):c.3508G>A (p.Gly1170Ser)	NID2 (G1170S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3200037	NM_007361.4(NID2):c.3179T>G (p.Phe1060Cys)	NID2 (F1060C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200036	NM_007361.4(NID2):c.3121C>T (p.Pro1041Ser)	NID2 (P1041S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200035	NM_007361.4(NID2):c.3011A>C (p.His1004Pro)	NID2 (H1004P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200034	NM_007361.4(NID2):c.2955C>A (p.Asp985Glu)	NID2 (D985E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200033	NM_007361.4(NID2):c.2846C>T (p.Ala949Val)	NID2 (A949V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200032	NM_007361.4(NID2):c.2834G>A (p.Arg945His)	NID2 (R945H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200031	NM_007361.4(NID2):c.2812A>G (p.Thr938Ala)	NID2 (T938A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200030	NM_007361.4(NID2):c.2758C>A (p.Pro920Thr)	NID2 (P920T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200029	NM_007361.4(NID2):c.2609A>C (p.His870Pro)	NID2 (H870P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200028	NM_007361.4(NID2):c.22G>A (p.Gly8Arg)	NID2 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200026	NM_007361.4(NID2):c.2147C>T (p.Pro716Leu)	NID2 (P716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200025	NM_007361.4(NID2):c.2033C>A (p.Thr678Asn)	NID2 (T678N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200024	NM_007361.4(NID2):c.1882C>A (p.Arg628Ser)	NID2 (R628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200023	NM_007361.4(NID2):c.1831G>C (p.Ala611Pro)	NID2 (A611P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200022	NM_007361.4(NID2):c.1754C>T (p.Pro585Leu)	NID2 (P585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200021	NM_007361.4(NID2):c.1304T>A (p.Val435Asp)	NID2 (V435D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200020	NM_007361.4(NID2):c.1189C>G (p.Pro397Ala)	NID2 (P397A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200019	NM_007361.4(NID2):c.1084G>T (p.Asp362Tyr)	NID2 (D362Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644238	NM_007361.4(NID2):c.469C>T (p.Leu157=)	NID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644237	NM_007361.4(NID2):c.2176G>A (p.Val726Met)	NID2 (V726M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644236	NM_007361.4(NID2):c.2788A>G (p.Ile930Val)	NID2 (I930V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2624185	NM_007361.4(NID2):c.3104G>C (p.Arg1035Pro)	NID2 (R1035P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623989	NM_007361.4(NID2):c.185C>A (p.Ala62Glu)	NID2 (A62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611394	NM_007361.4(NID2):c.2895G>T (p.Glu965Asp)	NID2 (E965D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608287	NM_007361.4(NID2):c.671G>A (p.Arg224Gln)	NID2 (R224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601645	NM_007361.4(NID2):c.1605A>C (p.Lys535Asn)	NID2 (K535N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601358	NM_007361.4(NID2):c.3118G>A (p.Val1040Met)	NID2 (V1040M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600663	NM_007361.4(NID2):c.698A>G (p.Asp233Gly)	NID2 (D233G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596804	NM_007361.4(NID2):c.2156C>T (p.Pro719Leu)	NID2 (P719L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592391	NM_007361.4(NID2):c.2761G>A (p.Gly921Arg)	NID2 (G921R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592270	NM_007361.4(NID2):c.3212T>C (p.Val1071Ala)	NID2 (V1071A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590602	NM_007361.4(NID2):c.1473C>A (p.Asn491Lys)	NID2 (N491K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588204	NM_007361.4(NID2):c.2038A>G (p.Thr680Ala)	NID2 (T680A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556286	NM_007361.4(NID2):c.1519G>A (p.Gly507Ser)	NID2 (G507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549824	NM_007361.4(NID2):c.3505G>A (p.Ala1169Thr)	NID2 (A1169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543419	NM_007361.4(NID2):c.3106G>A (p.Asp1036Asn)	NID2 (D1036N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541290	NM_007361.4(NID2):c.3223C>T (p.Arg1075Cys)	NID2 (R1075C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540771	NM_007361.4(NID2):c.3175G>A (p.Asp1059Asn)	NID2 (D1059N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536973	NM_007361.4(NID2):c.2053T>G (p.Tyr685Asp)	NID2 (Y685D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526481	NM_007361.4(NID2):c.3380G>C (p.Arg1127Thr)	NID2 (R1127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525563	NM_007361.4(NID2):c.3293G>A (p.Arg1098Gln)	NID2 (R1098Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518978	NM_007361.4(NID2):c.1666G>A (p.Ala556Thr)	NID2 (A556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517918	NM_007361.4(NID2):c.1175G>A (p.Arg392Lys)	NID2 (R392K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487205	NM_007361.4(NID2):c.3515A>C (p.Glu1172Ala)	NID2 (E1172A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479823	NM_007361.4(NID2):c.2897A>G (p.Gln966Arg)	NID2 (Q966R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479069	NM_007361.4(NID2):c.3440T>C (p.Ile1147Thr)	NID2 (I1147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467370	NM_007361.4(NID2):c.1331T>C (p.Ile444Thr)	NID2 (I444T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464981	NM_007361.4(NID2):c.2488C>T (p.Arg830Trp)	NID2 (R830W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463174	NM_007361.4(NID2):c.1146A>C (p.Gln382His)	NID2 (Q382H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454784	NM_007361.4(NID2):c.94C>T (p.His32Tyr)	NID2 (H32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410636	NM_007361.4(NID2):c.1202G>C (p.Arg401Thr)	NID2 (R401T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409436	NM_007361.4(NID2):c.2869C>T (p.Arg957Trp)	NID2 (R957W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398184	NM_007361.4(NID2):c.1882C>G (p.Arg628Gly)	NID2 (R628G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388623	NM_007361.4(NID2):c.2054A>G (p.Tyr685Cys)	NID2 (Y685C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387467	NM_007361.4(NID2):c.3455G>A (p.Arg1152Gln)	NID2 (R1152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382696	NM_007361.4(NID2):c.3637G>A (p.Ala1213Thr)	NID2 (A1213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381541	NM_007361.4(NID2):c.4108T>C (p.Cys1370Arg)	NID2, RTRAF (C1370R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380219	NM_007361.4(NID2):c.3503G>A (p.Arg1168His)	NID2 (R1168H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369406	NM_007361.4(NID2):c.2182C>T (p.Arg728Trp)	NID2 (R728W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364925	NM_007361.4(NID2):c.1376G>A (p.Ser459Asn)	NID2 (S459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360315	NM_007361.4(NID2):c.2365G>A (p.Ala789Thr)	NID2 (A789T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351687	NM_007361.4(NID2):c.2609A>G (p.His870Arg)	NID2 (H870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351470	NM_007361.4(NID2):c.2430T>G (p.His810Gln)	NID2 (H810Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348612	NM_007361.4(NID2):c.892C>T (p.Arg298Cys)	NID2 (R298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344500	NM_007361.4(NID2):c.2095C>T (p.Arg699Cys)	NID2 (R699C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342927	NM_007361.4(NID2):c.2330A>G (p.His777Arg)	NID2 (H777R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326082	NM_007361.4(NID2):c.2813C>A (p.Thr938Lys)	NID2 (T938K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2318526	NM_007361.4(NID2):c.3741C>G (p.Asp1247Glu)	NID2, RTRAF (D1247E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309555	NM_007361.4(NID2):c.3646G>T (p.Asp1216Tyr)	NID2 (D1216Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309044	NM_007361.4(NID2):c.1003G>T (p.Ala335Ser)	NID2 (A335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305111	NM_007361.4(NID2):c.1435A>G (p.Thr479Ala)	NID2 (T479A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304967	NM_007361.4(NID2):c.569G>A (p.Gly190Glu)	NID2 (G190E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2304812	NM_007361.4(NID2):c.2260G>A (p.Asp754Asn)	NID2 (D754N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302392	NM_007361.4(NID2):c.3663G>C (p.Lys1221Asn)	NID2 (K1221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294896	NM_007361.4(NID2):c.2959G>A (p.Asp987Asn)	NID2 (D987N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291602	NM_007361.4(NID2):c.2752T>C (p.Cys918Arg)	NID2 (C918R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291340	NM_007361.4(NID2):c.719C>G (p.Pro240Arg)	NID2 (P240R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290649	NM_007361.4(NID2):c.2431C>A (p.Arg811Ser)	NID2 (R811S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288186	NM_007361.4(NID2):c.4051G>C (p.Glu1351Gln)	NID2, RTRAF (E1351Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278620	NM_007361.4(NID2):c.826T>A (p.Leu276Met)	NID2 (L276M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269364	NM_007361.4(NID2):c.1360C>G (p.His454Asp)	NID2 (H454D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267941	NM_007361.4(NID2):c.3578T>C (p.Ile1193Thr)	NID2 (I1193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267028	NM_007361.4(NID2):c.4070G>C (p.Arg1357Pro)	NID2, RTRAF (R1357P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259950	NM_007361.4(NID2):c.3281G>A (p.Arg1094Gln)	NID2 (R1094Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255507	NM_007361.4(NID2):c.1090C>T (p.His364Tyr)	NID2 (H364Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248170	NM_007361.4(NID2):c.2112C>G (p.Ile704Met)	NID2 (I704M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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