"Ambry Genetics"[submitter] AND "N4BP2"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2252311	NM_018177.6(N4BP2):c.29G>T (p.Gly10Val)	N4BP2 (G10V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278254	NM_018177.6(N4BP2):c.49G>A (p.Ala17Thr)	N4BP2 (A17T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603050	NM_018177.6(N4BP2):c.88C>T (p.Arg30Cys)	N4BP2 (R30C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465962	NM_018177.6(N4BP2):c.89G>T (p.Arg30Leu)	N4BP2 (R30L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622756	NM_018177.6(N4BP2):c.91G>C (p.Glu31Gln)	N4BP2 (E31Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624134	NM_018177.6(N4BP2):c.158G>A (p.Ser53Asn)	N4BP2 (S53N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485037	NM_018177.6(N4BP2):c.282A>G (p.Ile94Met)	N4BP2 (I94M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615266	NM_018177.6(N4BP2):c.311C>T (p.Ala104Val)	N4BP2 (A104V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466370	NM_018177.6(N4BP2):c.461A>T (p.Asn154Ile)	N4BP2 (N154I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526866	NM_018177.6(N4BP2):c.462C>G (p.Asn154Lys)	N4BP2 (N74K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484063	NM_018177.6(N4BP2):c.617C>A (p.Ser206Tyr)	N4BP2 (S126Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209309	NM_018177.6(N4BP2):c.769G>A (p.Ala257Thr)	N4BP2 (A257T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605260	NM_018177.6(N4BP2):c.865A>G (p.Ser289Gly)	N4BP2 (S209G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213710	NM_018177.6(N4BP2):c.968G>A (p.Gly323Glu)	N4BP2 (G323E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2517457	NM_018177.6(N4BP2):c.1070C>T (p.Pro357Leu)	N4BP2 (P277L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492694	NM_018177.6(N4BP2):c.1078C>T (p.Pro360Ser)	N4BP2 (P280S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590890	NM_018177.6(N4BP2):c.1219C>T (p.Pro407Ser)	N4BP2 (P407S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353189	NM_018177.6(N4BP2):c.1240A>G (p.Lys414Glu)	N4BP2 (K414E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285950	NM_018177.6(N4BP2):c.1441C>G (p.Gln481Glu)	N4BP2 (Q401E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330847	NM_018177.6(N4BP2):c.1658T>A (p.Leu553His)	N4BP2 (L553H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589358	NM_018177.6(N4BP2):c.1666C>T (p.Arg556Cys)	N4BP2 (R556C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344605	NM_018177.6(N4BP2):c.1667G>A (p.Arg556His)	N4BP2 (R476H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253220	NM_018177.6(N4BP2):c.1790G>A (p.Cys597Tyr)	N4BP2 (C517Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376725	NM_018177.6(N4BP2):c.1859A>C (p.Glu620Ala)	N4BP2 (E620A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260951	NM_018177.6(N4BP2):c.1864A>G (p.Ile622Val)	N4BP2 (I542V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2486425	NM_018177.6(N4BP2):c.1935G>A (p.Met645Ile)	N4BP2 (M565I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250632	NM_018177.6(N4BP2):c.1977C>G (p.Asn659Lys)	N4BP2 (N579K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541685	NM_018177.6(N4BP2):c.2231C>A (p.Pro744Gln)	N4BP2 (P664Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459662	NM_018177.6(N4BP2):c.2319A>C (p.Lys773Asn)	N4BP2 (K773N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460731	NM_018177.6(N4BP2):c.2345A>G (p.His782Arg)	N4BP2 (H782R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281784	NM_018177.6(N4BP2):c.2347G>A (p.Glu783Lys)	N4BP2 (E703K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264301	NM_018177.6(N4BP2):c.2437G>A (p.Val813Ile)	N4BP2 (V733I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307990	NM_018177.6(N4BP2):c.2459A>G (p.Asn820Ser)	N4BP2 (N820S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479131	NM_018177.6(N4BP2):c.2506G>C (p.Asp836His)	N4BP2 (D836H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456221	NM_018177.6(N4BP2):c.2522G>A (p.Arg841Gln)	N4BP2 (R841Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2380364	NM_018177.6(N4BP2):c.2639A>G (p.Asn880Ser)	N4BP2 (N800S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316163	NM_018177.6(N4BP2):c.2783A>G (p.Glu928Gly)	N4BP2 (E848G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284148	NM_018177.6(N4BP2):c.2879G>A (p.Ser960Asn)	N4BP2 (S880N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540296	NM_018177.6(N4BP2):c.2897A>C (p.Lys966Thr)	N4BP2 (K966T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404534	NM_018177.6(N4BP2):c.2942A>G (p.Asn981Ser)	N4BP2 (N981S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2365676	NM_018177.6(N4BP2):c.2975C>A (p.Pro992Gln)	N4BP2 (P912Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339323	NM_018177.6(N4BP2):c.3012G>T (p.Lys1004Asn)	N4BP2 (K1004N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330545	NM_018177.6(N4BP2):c.3154A>G (p.Lys1052Glu)	N4BP2 (K972E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402005	NM_018177.6(N4BP2):c.3208G>A (p.Val1070Ile)	N4BP2 (V1070I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293250	NM_018177.6(N4BP2):c.3212T>C (p.Met1071Thr)	N4BP2 (M1071T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326056	NM_018177.6(N4BP2):c.3275T>C (p.Leu1092Pro)	N4BP2 (L1092P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383210	NM_018177.6(N4BP2):c.3397T>C (p.Cys1133Arg)	N4BP2 (C1053R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546680	NM_018177.6(N4BP2):c.3517A>G (p.Asn1173Asp)	N4BP2 (N1173D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288042	NM_018177.6(N4BP2):c.3620G>C (p.Arg1207Thr)	N4BP2 (R1207T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612757	NM_018177.6(N4BP2):c.3664C>G (p.Pro1222Ala)	N4BP2 (P1142A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354211	NM_018177.6(N4BP2):c.3673G>T (p.Ala1225Ser)	N4BP2 (A1145S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517680	NM_018177.6(N4BP2):c.3731A>G (p.Tyr1244Cys)	N4BP2 (Y1164C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230183	NM_018177.6(N4BP2):c.3767C>G (p.Ala1256Gly)	N4BP2 (A1176G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468485	NM_018177.6(N4BP2):c.3809T>C (p.Val1270Ala)	N4BP2 (V1270A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521758	NM_018177.6(N4BP2):c.3847C>T (p.His1283Tyr)	N4BP2 (H1203Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246342	NM_018177.6(N4BP2):c.3962A>T (p.Tyr1321Phe)	N4BP2 (Y1241F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256164	NM_018177.6(N4BP2):c.4046C>T (p.Ser1349Leu)	N4BP2 (S1349L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403369	NM_018177.6(N4BP2):c.4065A>T (p.Glu1355Asp)	N4BP2 (E1355D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511742	NM_018177.6(N4BP2):c.4096G>T (p.Ala1366Ser)	N4BP2 (A1286S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332885	NM_018177.6(N4BP2):c.4141C>T (p.Pro1381Ser)	N4BP2 (P1381S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403970	NM_018177.6(N4BP2):c.4247C>T (p.Ala1416Val)	N4BP2 (A1416V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528274	NM_018177.6(N4BP2):c.4423T>A (p.Ser1475Thr)	N4BP2 (S1395T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285748	NM_018177.6(N4BP2):c.4618T>A (p.Phe1540Ile)	N4BP2 (F1540I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614147	NM_018177.6(N4BP2):c.4714G>T (p.Val1572Leu)	N4BP2 (V1492L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589827	NM_018177.6(N4BP2):c.4933C>T (p.Arg1645Trp)	N4BP2 (R1645W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376856	NM_018177.6(N4BP2):c.4979C>T (p.Thr1660Ile)	N4BP2 (T1580I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210246	NM_018177.6(N4BP2):c.5215G>A (p.Val1739Ile)	N4BP2 (V1659I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548706	NM_018177.6(N4BP2):c.5221C>T (p.Arg1741Cys)	N4BP2 (R1661C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399078	NM_018177.6(N4BP2):c.5276A>G (p.Glu1759Gly)	N4BP2 (E1679G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 69