Related gene-specific medical variations for Gene (Select 4683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2993636	NM_002485.5(NBN):c.1914+13T>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2970908	NM_002485.5(NBN):c.1892T>C (p.Leu631Pro)	LOC126860438, NBN (L631P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2880034	NM_002485.5(NBN):c.1914+11T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2877180	NM_002485.5(NBN):c.1914+14T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2854950	NM_002485.5(NBN):c.1870C>A (p.Arg624Ser)	LOC126860438, NBN (R542S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2850594	NM_002485.5(NBN):c.1846-7T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2838930	NM_002485.5(NBN):c.1851A>G (p.Glu617=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2832357	NM_002485.5(NBN):c.1846-16T>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2764800	NM_002485.5(NBN):c.1846-726_1895del	LOC126860438, NBN	Deletion (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 2697462	NM_002485.5(NBN):c.1846-12T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2676968	NM_002485.5(NBN):c.1104dup (p.Ser369fs)	NBN (S287fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676967	NM_002485.5(NBN):c.480+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676966	NM_002485.5(NBN):c.1029del (p.Gln344fs)	NBN (Q262fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676965	NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)	LOC126860438, NBN (E543fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676963	NM_002485.5(NBN):c.994+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676962	NM_002485.5(NBN):c.360_363dup (p.Val122fs)	NBN (V122fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676961	NM_002485.5(NBN):c.11_12del (p.Leu4fs)	NBN (L4fs)	Deletion (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 2676960	NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)	NBN (W640* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676959	NM_002485.5(NBN):c.241del (p.Glu81fs)	NBN (E81fs)	Deletion (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 2676957	NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)	NBN (S372* +1 more)	Duplication (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676956	NM_002485.5(NBN):c.1298del (p.Pro433fs)	NBN (P351fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676955	NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)	NBN (L440* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676953	NM_002485.5(NBN):c.1826del (p.Pro609fs)	NBN (P527fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676952	NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)	LOC126860438, NBN (S548* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676950	NM_002485.5(NBN):c.1397+1dup	NBN	Duplication (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676949	NM_002485.5(NBN):c.172-1del	NBN	Deletion (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676948	NM_002485.5(NBN):c.1481A>T (p.Gln494Leu)	NBN (Q412L +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676947	NM_002485.5(NBN):c.1373A>T (p.Tyr458Phe)	NBN (Y376F +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676945	NM_002485.5(NBN):c.1408G>A (p.Glu470Lys)	NBN (E388K +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676944	NM_002485.5(NBN):c.1940G>A (p.Ser647Asn)	NBN (S565N +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676943	NM_002485.5(NBN):c.1984C>A (p.Leu662Met)	NBN (L580M +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676941	NM_002485.5(NBN):c.704A>C (p.His235Pro)	NBN (H153P +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676939	NM_002485.5(NBN):c.1029dup (p.Gln344fs)	NBN (Q262fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676938	NM_002485.5(NBN):c.913A>G (p.Ile305Val)	NBN (I223V +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 2676937	NM_002485.5(NBN):c.40G>T (p.Glu14Ter)	NBN (E14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 2676936	NM_002485.5(NBN):c.1398-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2676935	NM_002485.5(NBN):c.1402dup (p.Arg468fs)	NBN (R386fs +1 more)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676933	NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)	NBN (T415fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676932	NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)	NBN (T381fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676931	NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)	NBN (L440fs +1 more)	Insertion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2676930	NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)	NBN (K252* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2676929	NM_002485.5(NBN):c.782del (p.Asn261fs)	NBN (N179fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2452409	NM_002485.5(NBN):c.1853A>G (p.Asn618Ser)	LOC126860438, NBN (N536S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2445333	NM_002485.5(NBN):c.455T>C (p.Met152Thr)	NBN (M152T +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2434067	NM_002485.5(NBN):c.1147_1149del (p.Glu383del)	NBN (E301del +1 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2432072	NM_002485.5(NBN):c.1210A>T (p.Lys404Ter)	NBN (K322* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2131908	NM_002485.5(NBN):c.1846-17_1846-11del	LOC126860438, NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2125581	NM_002485.5(NBN):c.1914+1G>T	LOC126860438, NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 2062733	NM_002485.5(NBN):c.1914+7A>T	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2024535	NM_002485.5(NBN):c.1912del (p.Ser638fs)	LOC126860438, NBN (S638fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 2022242	NM_002485.5(NBN):c.1896G>A (p.Trp632Ter)	LOC126860438, NBN (W550* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic
Select item 1782532	NM_002485.5(NBN):c.1913C>G (p.Ser638Cys)	LOC126860438, NBN (S556C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782455	NM_002485.5(NBN):c.1909A>G (p.Ile637Val)	LOC126860438, NBN (I637V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782430	NM_002485.5(NBN):c.1908A>G (p.Glu636=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1782311	NM_002485.5(NBN):c.1901C>T (p.Ala634Val)	LOC126860438, NBN (A552V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1782191	NM_002485.5(NBN):c.1897T>G (p.Ser633Ala)	LOC126860438, NBN (S551A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1781994	NM_002485.5(NBN):c.1887C>T (p.Asp629=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1781622	NM_002485.5(NBN):c.1869dup (p.Arg624fs)	LOC126860438, NBN (R624fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1781464	NM_002485.5(NBN):c.1859T>C (p.Ile620Thr)	LOC126860438, NBN (I538T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1728060	NM_002485.4:c.113_114insALU	NBN	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1726442	NM_002485.5(NBN):c.1896del (p.Trp632fs)	LOC126860438, NBN (W550fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 1714180	NM_002485.5(NBN):c.1874A>C (p.Glu625Ala)	LOC126860438, NBN (E543A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1679078	NM_002485.5(NBN):c.1914+27A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1626838	NM_002485.5(NBN):c.1914+17T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1602332	NM_002485.5(NBN):c.1914+18A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1588816	NM_002485.5(NBN):c.1891C>T (p.Leu631=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1579503	NM_002485.5(NBN):c.1846-7T>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1570542	NM_002485.5(NBN):c.1846-14T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1560093	NM_002485.5(NBN):c.1854T>C (p.Asn618=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1537239	NM_002485.5(NBN):c.1914+16T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1530611	NM_002485.5(NBN):c.1914+19A>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1516503	NM_002485.5(NBN):c.1889C>T (p.Ser630Leu)	LOC126860438, NBN (S548L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1476977	NM_002485.5(NBN):c.1885G>A (p.Asp629Asn)	LOC126860438, NBN (D629N +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1468831	NM_002485.5(NBN):c.1881G>T (p.Lys627Asn)	LOC126860438, NBN (K627N +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1452252	NM_002485.5(NBN):c.1895G>A (p.Trp632Ter)	LOC126860438, NBN (W632* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1374599	NM_002485.5(NBN):c.1865A>G (p.Lys622Arg)	LOC126860438, NBN (K622R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1367856	NM_002485.5(NBN):c.1889C>A (p.Ser630Ter)	LOC126860438, NBN (S548* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 1332648	NM_002485.5(NBN):c.697A>C (p.Lys233Gln)	NBN (K151Q +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 1330803	NM_002485.5(NBN):c.480+4G>A	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1319192	NM_002485.5(NBN):c.1342C>T (p.Gln448Ter)	NBN (Q366* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1201726	NM_002485.5(NBN):c.1846-249A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190117	NM_002485.5(NBN):c.1846C>A (p.Gln616Lys)	LOC126860438, NBN (Q534K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179689	NM_002485.5(NBN):c.1846-251A>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1140513	NM_002485.5(NBN):c.1884A>G (p.Glu628=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1138217	NM_002485.5(NBN):c.1846-10A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1133129	NM_002485.5(NBN):c.1846-10A>T	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1110595	NM_002485.5(NBN):c.1914+8A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1077501	NM_002485.5(NBN):c.1869A>G (p.Lys623=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1066491	NM_002485.5(NBN):c.1914+2T>G	LOC126860438, NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 1034861	NM_002485.5(NBN):c.1870C>G (p.Arg624Gly)	LOC126860438, NBN (R542G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 1011836	NM_002485.5(NBN):c.1858A>G (p.Ile620Val)	LOC126860438, NBN (I538V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 991606	NM_002485.5(NBN):c.1138A>G (p.Arg380Gly)	NBN (R298G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 971867	NM_002485.5(NBN):c.1903A>G (p.Lys635Glu)	LOC126860438, NBN (K553E +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 964295	NM_002485.5(NBN):c.1849G>T (p.Glu617Ter)	LOC126860438, NBN (E617* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 963028	NM_002485.5(NBN):c.1846-3T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 954667	NM_002485.5(NBN):c.1860del (p.Ile620fs)	LOC126860438, NBN (I620fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 928076	NM_002485.5(NBN):c.1914+20T>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 924610	NM_002485.5(NBN):c.1846-13T>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 920598	NM_002485.5(NBN):c.1871G>C (p.Arg624Pro)	LOC126860438, NBN (R624P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919649	NM_002485.5(NBN):c.1851A>C (p.Glu617Asp)	LOC126860438, NBN (E535D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance

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