Related gene-specific medical variations for Gene (Select 4791) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030923	NM_001322934.2(NFKB2):c.1187G>T (p.Gly396Val)	LOC130004599, NFKB2 (G354V +1 more)	Single nucleotide variant (missense variant)	NFKB2-related disorder	GUncertain significance
Select item 3009920	NM_001322934.2(NFKB2):c.669G>C (p.Pro223=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2995812	NM_001322934.2(NFKB2):c.1182C>A (p.Pro394=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2975170	NM_001322934.2(NFKB2):c.1192T>C (p.Tyr398His)	LOC130004599, NFKB2 (Y398H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2906382	NM_001322934.2(NFKB2):c.1318C>T (p.Leu440=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2879860	NM_001322934.2(NFKB2):c.1170C>T (p.Ser390=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2876380	NM_001322934.2(NFKB2):c.1343C>T (p.Ala448Val)	LOC130004599, NFKB2 (A448V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2829273	NM_001322934.2(NFKB2):c.1219A>G (p.Met407Val)	LOC130004599, NFKB2 (M407V +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2827867	NM_001322934.2(NFKB2):c.672G>A (p.Gly224=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2820698	NM_001322934.2(NFKB2):c.1225G>T (p.Ala409Ser)	LOC130004599, NFKB2 (A367S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2788194	NM_001322934.2(NFKB2):c.1218G>A (p.Gln406=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2787729	NM_001322934.2(NFKB2):c.29A>G (p.Asp10Gly)	LOC130004598, NFKB2 (D10G)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2784972	NM_001322934.2(NFKB2):c.1328-4G>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2777661	NM_001322934.2(NFKB2):c.1161C>T (p.Pro387=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2776314	NM_001322934.2(NFKB2):c.1286C>A (p.Thr429Asn)	LOC130004599, NFKB2 (T429N +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2771482	NM_001322934.2(NFKB2):c.1239C>G (p.Ser413Arg)	LOC130004599, NFKB2 (S371R +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2754038	NM_001322934.2(NFKB2):c.28G>A (p.Asp10Asn)	LOC130004598, NFKB2 (D10N)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2753278	NM_001322934.2(NFKB2):c.1283G>A (p.Arg428Lys)	LOC130004599, NFKB2 (R428K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2749970	NM_001322934.2(NFKB2):c.1225G>C (p.Ala409Pro)	LOC130004599, NFKB2 (A409P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2748852	NM_001322934.2(NFKB2):c.1202G>A (p.Gly401Asp)	LOC130004599, NFKB2 (G359D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2745427	NM_001322934.2(NFKB2):c.662-7T>G	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2739353	NM_001322934.2(NFKB2):c.1167G>C (p.Gln389His)	LOC130004599, NFKB2 (Q347H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2727434	NM_001322934.2(NFKB2):c.1328-12T>C	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2703868	NM_001322934.2(NFKB2):c.1327+1G>A	LOC130004599, NFKB2	Single nucleotide variant (splice donor variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2696510	NM_001322934.2(NFKB2):c.1328-7C>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2640791	NM_001322934.2(NFKB2):c.1179C>A (p.Gly393=)	NFKB2, LOC130004599	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634647	NM_001322934.2(NFKB2):c.1282A>G (p.Arg428Gly)	LOC130004599, NFKB2 (R386G +1 more)	Single nucleotide variant (missense variant)	NFKB2-related disorder	GUncertain significance
Select item 2633915	NM_001322934.2(NFKB2):c.34A>G (p.Ile12Val)	LOC130004598, NFKB2 (I12V)	Single nucleotide variant (missense variant)	NFKB2-related disorder	GUncertain significance
Select item 2628219	NM_001322934.2(NFKB2):c.662-27T>G	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2576104	NM_001322934.2(NFKB2):c.514C>T (p.Arg172Trp)	NFKB2 (R172W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432214	NM_001322934.2(NFKB2):c.1359_1363dup (p.Gln455fs)	NFKB2 (Q413fs +1 more)	Duplication (frameshift variant)	Immunodeficiency, common variable, 10	GLikely pathogenic
Select item 2181866	NM_001322934.2(NFKB2):c.1348C>T (p.Leu450=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2178331	NM_001322934.2(NFKB2):c.1328-11G>A	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2166209	NM_001322934.2(NFKB2):c.48T>G (p.Asp16Glu)	LOC130004598, NFKB2 (D16E)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2162120	NM_001322934.2(NFKB2):c.1289C>T (p.Pro430Leu)	LOC130004599, NFKB2 (P388L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2157041	NM_001322934.2(NFKB2):c.1285A>G (p.Thr429Ala)	LOC130004599, NFKB2 (T387A +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2111635	NM_001322934.2(NFKB2):c.1196C>T (p.Pro399Leu)	LOC130004599, NFKB2 (P357L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2103974	NM_001322934.2(NFKB2):c.1325G>A (p.Arg442Gln)	LOC130004599, NFKB2 (R442Q +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2092088	NM_001322934.2(NFKB2):c.22-18A>T	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2085698	NM_001322934.2(NFKB2):c.1308C>T (p.Ala436=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2074459	NM_001322934.2(NFKB2):c.1328-13_1328-12del	LOC130004599, NFKB2	Microsatellite (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2065104	NM_001322934.2(NFKB2):c.1287C>T (p.Thr429=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2062240	NM_001322934.2(NFKB2):c.1303C>A (p.Gln435Lys)	LOC130004599, NFKB2 (Q393K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2053917	NM_001322934.2(NFKB2):c.1345C>G (p.Arg449Gly)	LOC130004599, NFKB2 (R407G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 2035937	NM_001322934.2(NFKB2):c.662-14A>C	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2026019	NM_001322934.2(NFKB2):c.1327+11C>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 2005810	NM_001322934.2(NFKB2):c.1306G>A (p.Ala436Thr)	LOC130004599, NFKB2 (A394T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1996426	NM_001322934.2(NFKB2):c.719_720del (p.Val240fs)	LOC121815964, NFKB2 (V240fs)	Microsatellite (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1990966	NM_001322934.2(NFKB2):c.1328-13C>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1989112	NM_001322934.2(NFKB2):c.27G>A (p.Leu9=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1965649	NM_001322934.2(NFKB2):c.710C>T (p.Ala237Val)	LOC121815964, NFKB2 (A237V)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1944840	NM_001322934.2(NFKB2):c.720G>A (p.Val240=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1943161	NM_001322934.2(NFKB2):c.1251G>A (p.Gly417=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1937787	NM_001322934.2(NFKB2):c.1183A>T (p.Met395Leu)	LOC130004599, NFKB2 (M395L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1936892	NM_001322934.2(NFKB2):c.1341C>G (p.Asn447Lys)	LOC130004599, NFKB2 (N405K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1918460	NM_001322934.2(NFKB2):c.1241G>A (p.Arg414Lys)	LOC130004599, NFKB2 (R372K +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1898961	NM_001322934.2(NFKB2):c.1327+20G>A	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1809695	NM_001322934.2(NFKB2):c.*76C>T	NFKB2	Single nucleotide variant (3 prime UTR variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1667405	NM_001322934.2(NFKB2):c.1230G>A (p.Thr410=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1626606	NM_001322934.2(NFKB2):c.729A>C (p.Gly243=)	LOC121815964, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1624139	NM_001322934.2(NFKB2):c.22-7A>G	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1619385	NM_001322934.2(NFKB2):c.1327+18C>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1594825	NM_001322934.2(NFKB2):c.1248C>T (p.Ser416=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1575792	NM_001322934.2(NFKB2):c.1242G>A (p.Arg414=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10 +1 more	GLikely benign
Select item 1564757	NM_001322934.2(NFKB2):c.1327+11C>G	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1561591	NM_001322934.2(NFKB2):c.1327+15G>A	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1548223	NM_001322934.2(NFKB2):c.1327+10C>T	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1544733	NM_001322934.2(NFKB2):c.1266G>A (p.Glu422=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1537639	NM_001322934.2(NFKB2):c.22-15C>G	LOC130004598, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1536322	NM_001322934.2(NFKB2):c.1328-14T>C	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1532165	NM_001322934.2(NFKB2):c.1305G>A (p.Gln435=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1517693	NM_001322934.2(NFKB2):c.22G>C (p.Gly8Arg)	LOC130004598, NFKB2 (G8R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1497588	NM_001322934.2(NFKB2):c.62A>G (p.Asn21Ser)	LOC130004598, NFKB2 (N21S)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1497284	NM_001322934.2(NFKB2):c.662-5C>T	LOC121815964, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1490609	NM_001322934.2(NFKB2):c.1138C>T (p.Pro380Ser)	LOC130004599, NFKB2 (P380S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1482680	NM_001322934.2(NFKB2):c.1120G>A (p.Gly374Ser)	LOC130004599, NFKB2 (G332S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1479090	NM_001322934.2(NFKB2):c.1214C>A (p.Ala405Glu)	LOC130004599, NFKB2 (A363E +1 more)	Single nucleotide variant (missense variant)	NFKB2-related disorder +1 more	GUncertain significance
Select item 1464360	NM_001322934.2(NFKB2):c.722G>A (p.Arg241Gln)	LOC121815964, NFKB2 (R241Q)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1435511	NM_001322934.2(NFKB2):c.736G>A (p.Val246Ile)	LOC121815964, NFKB2 (V246I)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1425780	NM_001322934.2(NFKB2):c.1327+4T>C	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1372850	NM_001322934.2(NFKB2):c.1323G>T (p.Gln441His)	LOC130004599, NFKB2 (Q441H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1355771	NM_001322934.2(NFKB2):c.1306G>T (p.Ala436Ser)	LOC130004599, NFKB2 (A394S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1346644	NM_001322934.2(NFKB2):c.1154A>G (p.Tyr385Cys)	LOC130004599, NFKB2 (Y343C +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1346579	NM_001322934.2(NFKB2):c.1258G>A (p.Ala420Thr)	LOC130004599, NFKB2 (A378T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10 +1 more	GUncertain significance
Select item 1346389	NM_001322934.2(NFKB2):c.1267C>T (p.Pro423Ser)	LOC130004599, NFKB2 (P381S +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1338871	NM_001322934.2(NFKB2):c.1210G>A (p.Gly404Arg)	LOC130004599, NFKB2 (G362R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1314857	NM_001322934.2(NFKB2):c.1124G>A (p.Ser375Asn)	LOC130004599, NFKB2 (S333N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1157630	NM_001322934.2(NFKB2):c.1327+10C>A	LOC130004599, NFKB2	Single nucleotide variant (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1139904	NM_001322934.2(NFKB2):c.51T>C (p.Asp17=)	LOC130004598, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1139586	NM_001322934.2(NFKB2):c.1328-5dup	LOC130004599, NFKB2	Duplication (intron variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1111314	NM_001322934.2(NFKB2):c.1134C>T (p.Phe378=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1089191	NM_001322934.2(NFKB2):c.1311G>A (p.Pro437=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1079669	NM_001322934.2(NFKB2):c.1179C>G (p.Gly393=)	LOC130004599, NFKB2	Single nucleotide variant (synonymous variant)	Immunodeficiency, common variable, 10	GLikely benign
Select item 1058521	NM_001322934.2(NFKB2):c.1286C>T (p.Thr429Ile)	NFKB2, LOC130004599 (T387I +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1028506	NM_001322934.2(NFKB2):c.1297G>C (p.Glu433Gln)	LOC130004599, NFKB2 (E391Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1022376	NM_001322934.2(NFKB2):c.673dup (p.Ala225fs)	LOC121815964, NFKB2 (A225fs)	Duplication (frameshift variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1021917	NM_001322934.2(NFKB2):c.1137C>A (p.Phe379Leu)	LOC130004599, NFKB2 (F337L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1008266	NM_001322934.2(NFKB2):c.1183A>C (p.Met395Leu)	LOC130004599, NFKB2 (M353L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 1006763	NM_001322934.2(NFKB2):c.662A>G (p.Lys221Arg)	LOC121815964, NFKB2 (K221R)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance
Select item 978030	NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr)	LOC130004599, NFKB2 (M353T +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 10	GUncertain significance

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