NID2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
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 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 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 724770	NM_007361.4(NID2):c.3979C>T (p.His1327Tyr)	NID2, RTRAF (H1327Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2223887	NM_007361.4(NID2):c.3778T>G (p.Leu1260Val)	NID2, RTRAF (L1260V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 718101	NM_007361.4(NID2):c.3681T>C (p.Asp1227=)	NID2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2309555	NM_007361.4(NID2):c.3646G>T (p.Asp1216Tyr)	NID2 (D1216Y)	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 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 2267941	NM_007361.4(NID2):c.3578T>C (p.Ile1193Thr)	NID2 (I1193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299722	NM_007361.4(NID2):c.3551G>A (p.Gly1184Asp)	NID2 (G1184D)	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 2487205	NM_007361.4(NID2):c.3515A>C (p.Glu1172Ala)	NID2 (E1172A)	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 2549824	NM_007361.4(NID2):c.3505G>A (p.Ala1169Thr)	NID2 (A1169T)	Single nucleotide variant (missense variant)	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 2387467	NM_007361.4(NID2):c.3455G>A (p.Arg1152Gln)	NID2 (R1152Q)	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 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 2259950	NM_007361.4(NID2):c.3281G>A (p.Arg1094Gln)	NID2 (R1094Q)	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 2592270	NM_007361.4(NID2):c.3212T>C (p.Val1071Ala)	NID2 (V1071A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2540771	NM_007361.4(NID2):c.3175G>A (p.Asp1059Asn)	NID2 (D1059N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786250	NM_007361.4(NID2):c.3123C>A (p.Pro1041=)	NID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2601358	NM_007361.4(NID2):c.3118G>A (p.Val1040Met)	NID2 (V1040M)	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 2624185	NM_007361.4(NID2):c.3104G>C (p.Arg1035Pro)	NID2 (R1035P)	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 2294896	NM_007361.4(NID2):c.2959G>A (p.Asp987Asn)	NID2 (D987N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3299724	NM_007361.4(NID2):c.2954A>G (p.Asp985Gly)	NID2 (D985G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299723	NM_007361.4(NID2):c.2912C>T (p.Pro971Leu)	NID2 (P971L)	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 2611394	NM_007361.4(NID2):c.2895G>T (p.Glu965Asp)	NID2 (E965D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299725	NM_007361.4(NID2):c.2893G>A (p.Glu965Lys)	NID2 (E965K)	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 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 2326082	NM_007361.4(NID2):c.2813C>A (p.Thr938Lys)	NID2 (T938K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2644236	NM_007361.4(NID2):c.2788A>G (p.Ile930Val)	NID2 (I930V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3299727	NM_007361.4(NID2):c.2762G>C (p.Gly921Ala)	NID2 (G921A)	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 3200030	NM_007361.4(NID2):c.2758C>A (p.Pro920Thr)	NID2 (P920T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3299719	NM_007361.4(NID2):c.2721C>G (p.Cys907Trp)	NID2 (C907W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714333	NM_007361.4(NID2):c.2721C>T (p.Cys907=)	NID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3299720	NM_007361.4(NID2):c.2653G>A (p.Gly885Ser)	NID2 (G885S)	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 2351687	NM_007361.4(NID2):c.2609A>G (p.His870Arg)	NID2 (H870R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714334	NM_007361.4(NID2):c.2597G>A (p.Arg866Gln)	NID2 (R866Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2223014	NM_007361.4(NID2):c.2585C>G (p.Ala862Gly)	NID2 (A862G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341604	NM_007361.4(NID2):c.2489G>A (p.Arg830Gln)	NID2 (R830Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2290649	NM_007361.4(NID2):c.2431C>A (p.Arg811Ser)	NID2 (R811S)	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 2360315	NM_007361.4(NID2):c.2365G>A (p.Ala789Thr)	NID2 (A789T)	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 2237338	NM_007361.4(NID2):c.2321C>T (p.Ala774Val)	NID2 (A774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743366	NM_007361.4(NID2):c.2293G>A (p.Asp765Asn)	NID2 (D765N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784284	NM_007361.4(NID2):c.2276C>T (p.Pro759Leu)	NID2 (P759L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784483	NM_007361.4(NID2):c.2267A>G (p.Asp756Gly)	NID2 (D756G)	Single nucleotide variant (missense variant)	not provided	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 2369406	NM_007361.4(NID2):c.2182C>T (p.Arg728Trp)	NID2 (R728W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2596804	NM_007361.4(NID2):c.2156C>T (p.Pro719Leu)	NID2 (P719L)	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 2248170	NM_007361.4(NID2):c.2112C>G (p.Ile704Met)	NID2 (I704M)	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 3299728	NM_007361.4(NID2):c.2072C>T (p.Ala691Val)	NID2 (A691V)	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 2536973	NM_007361.4(NID2):c.2053T>G (p.Tyr685Asp)	NID2 (Y685D)	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 3200025	NM_007361.4(NID2):c.2033C>A (p.Thr678Asn)	NID2 (T678N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786618	NM_007361.4(NID2):c.2026+10A>C	NID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784285	NM_007361.4(NID2):c.1883G>A (p.Arg628His)	NID2 (R628H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2398184	NM_007361.4(NID2):c.1882C>G (p.Arg628Gly)	NID2 (R628G)	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 1273194	NM_007361.4(NID2):c.1806G>T (p.Glu602Asp)	NID2 (E602D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299721	NM_007361.4(NID2):c.1795C>G (p.Pro599Ala)	NID2 (P599A)	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 2518978	NM_007361.4(NID2):c.1666G>A (p.Ala556Thr)	NID2 (A556T)	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 2556286	NM_007361.4(NID2):c.1519G>A (p.Gly507Ser)	NID2 (G507S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774909	NM_007361.4(NID2):c.1478G>A (p.Arg493Lys)	NID2 (R493K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 725070	NM_007361.4(NID2):c.1448C>G (p.Ala483Gly)	NID2 (A483G)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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