ClinVar for Gene (Select 4683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374971	NM_002485.5(NBN):c.246A>G (p.Lys82=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3366333	NM_002485.5(NBN):c.1533_1534del (p.Asn511fs)	NBN (N429fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3360631	NM_002485.5(NBN):c.311G>A (p.Ser104Asn)	NBN (S104N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339744	NC_000008.10:g.(90990552_90992961)_(90996896_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3298640	NM_002485.5(NBN):c.68A>G (p.Glu23Gly)	NBN (E23G)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298639	NM_002485.5(NBN):c.2156T>C (p.Leu719Pro)	NBN (L637P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298638	NM_002485.5(NBN):c.1346A>C (p.Gln449Pro)	NBN (Q367P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298637	NM_002485.5(NBN):c.1053dup (p.Leu352fs)	NBN (L352fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3298636	NM_002485.5(NBN):c.688T>C (p.Leu230=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3298634	NM_002485.5(NBN):c.142T>G (p.Leu48Val)	NBN (L48V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298633	NM_002485.5(NBN):c.1297C>A (p.Pro433Thr)	NBN (P433T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298632	NM_002485.5(NBN):c.507T>C (p.Arg169=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3298630	NM_002485.5(NBN):c.952A>G (p.Thr318Ala)	NBN (T236A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298629	NM_002485.5(NBN):c.595C>G (p.Pro199Ala)	NBN (P117A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298628	NM_002485.5(NBN):c.1715C>G (p.Pro572Arg)	NBN (P572R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298627	NM_002485.5(NBN):c.2145G>A (p.Lys715=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3298626	NM_002485.5(NBN):c.2089G>A (p.Gly697Arg)	NBN (G615R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298625	NM_002485.5(NBN):c.328T>C (p.Tyr110His)	NBN (Y110H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3298622	NM_002485.5(NBN):c.1762A>G (p.Asn588Asp)	NBN (N506D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3245502	NC_000008.10:g.(?_90971077)_(90971078_?)insTCTTTC	NBN	Insertion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245501	NC_000008.10:g.(?_90947810)_(90983528_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245500	NC_000008.11:g.(?_89980724)_(89984571_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245499	NC_000008.10:g.(?_90949244)_(90996789_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245498	NC_000008.10:g.(?_90947810)_(91064125_?)dup	DECR1, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3245497	NC_000008.10:g.(?_90947810)_(90949323_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 3245496	NC_000008.10:g.(?_90947810)_(90955604_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 3245495	NC_000008.10:g.(?_90992952)_(90996789_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245493	NC_000008.10:g.(?_90994930)_(90996789_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3245492	NC_000008.10:g.(?_90970943)_(90971092_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 3239841	NM_002485.5(NBN):c.1845+4A>G	NBN	Single nucleotide variant (intron variant)	Aplastic anemia	GUncertain significance
Select item 3239840	NM_002485.5(NBN):c.1675_1682del (p.Glu559fs)	NBN (E477fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 3239838	NM_002485.5(NBN):c.1456T>A (p.Ser486Thr)	NBN (S404T +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 3239836	NM_002485.5(NBN):c.1518del (p.Gln506fs)	NBN (Q424fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3239835	NM_002485.5(NBN):c.2197del (p.His733fs)	NBN (H651fs +1 more)	Deletion (frameshift variant)	Aplastic anemia	GUncertain significance
Select item 3239834	NM_002485.5(NBN):c.1461T>G (p.Cys487Trp)	NBN (C405W +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 3239833	NM_002485.5(NBN):c.1295C>G (p.Ser432Ter)	NBN (S350* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 3239832	NM_002485.5(NBN):c.278C>G (p.Ser93Trp)	NBN (S11W +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 3239831	NM_002485.5(NBN):c.215del (p.Ser72fs)	NBN (S72fs)	Deletion (5 prime UTR variant +1 more)	Aplastic anemia	GLikely pathogenic
Select item 3239830	NM_002485.5(NBN):c.328T>G (p.Tyr110Asp)	NBN (Y110D +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 3239829	NM_002485.5(NBN):c.1052A>C (p.Lys351Thr)	NBN (K269T +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 3239827	NM_002485.5(NBN):c.2235-1G>C	NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 3222440	NM_002485.5(NBN):c.995-5T>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222439	NM_002485.5(NBN):c.945T>G (p.Ile315Met)	NBN (I233M +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222438	NM_002485.5(NBN):c.779A>G (p.His260Arg)	NBN (H178R +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GUncertain significance
Select item 3222437	NM_002485.5(NBN):c.745G>C (p.Ala249Pro)	NBN (A167P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222436	NM_002485.5(NBN):c.729C>A (p.Val243=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222435	NM_002485.5(NBN):c.435A>C (p.Glu145Asp)	NBN (E145D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222434	NM_002485.5(NBN):c.37+4A>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222433	NM_002485.5(NBN):c.347G>A (p.Cys116Tyr)	NBN (C116Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222432	NM_002485.5(NBN):c.331G>A (p.Glu111Lys)	NBN (E111K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222430	NM_002485.5(NBN):c.2257A>G (p.Arg753Gly)	NBN (R671G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222429	NM_002485.5(NBN):c.224G>A (p.Gly75Asp)	NBN (G75D)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222428	NM_002485.5(NBN):c.2203A>G (p.Lys735Glu)	NBN (K653E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222426	NM_002485.5(NBN):c.2107A>T (p.Ile703Phe)	NBN (I621F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222425	NM_002485.5(NBN):c.2091A>G (p.Gly697=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222424	NM_002485.5(NBN):c.2071-5_2071del	NBN	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222423	NM_002485.5(NBN):c.2055C>T (p.Phe685=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222422	NM_002485.5(NBN):c.2050A>T (p.Asn684Tyr)	NBN (N602Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222421	NM_002485.5(NBN):c.2014C>G (p.Pro672Ala)	NBN (P590A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222420	NM_002485.5(NBN):c.2005T>G (p.Ser669Ala)	NBN (S587A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222418	NM_002485.5(NBN):c.1960C>T (p.Leu654=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222417	NM_002485.5(NBN):c.190C>A (p.Pro64Thr)	NBN (P64T)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222416	NM_002485.5(NBN):c.1904A>G (p.Lys635Arg)	LOC126860438, NBN (K553R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222415	NM_002485.5(NBN):c.184G>A (p.Glu62Lys)	NBN (E62K)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222414	NM_002485.5(NBN):c.1846C>T (p.Gln616Ter)	LOC126860438, NBN (Q534* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3222413	NM_002485.5(NBN):c.1836C>T (p.Ser612=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222412	NM_002485.5(NBN):c.1739T>C (p.Val580Ala)	NBN (V498A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222411	NM_002485.5(NBN):c.1574A>G (p.Asp525Gly)	NBN (D525G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3222409	NM_002485.5(NBN):c.1359C>T (p.Asn453=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222408	NM_002485.5(NBN):c.1337C>T (p.Ala446Val)	NBN (A364V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222407	NM_002485.5(NBN):c.1290G>A (p.Gln430=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222406	NM_002485.5(NBN):c.1274G>T (p.Arg425Ile)	NBN (R343I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222405	NM_002485.5(NBN):c.1233T>C (p.Ser411=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222403	NM_002485.5(NBN):c.1157del (p.Val386fs)	NBN (V304fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3222402	NM_002485.5(NBN):c.1125-3del	NBN	Deletion (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3222401	NM_002485.5(NBN):c.1117G>A (p.Asp373Asn)	NBN (D291N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3179546	NM_002485.5(NBN):c.482C>T (p.Thr161Ile)	NBN (T79I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3179539	NM_002485.5(NBN):c.2246A>G (p.Tyr749Cys)	NBN (Y749C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3068990	NM_002485.5(NBN):c.995-7T>A	NBN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3068989	NM_002485.5(NBN):c.997T>G (p.Leu333Val)	NBN (L251V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3052368	NM_002485.5(NBN):c.321-24_321-20del	NBN	Deletion (intron variant)	NBN-related disorder	GLikely benign
Select item 3034474	NM_002485.5(NBN):c.321-27C>T	NBN	Single nucleotide variant (intron variant)	NBN-related disorder	GLikely benign
Select item 3023532	NM_002485.5(NBN):c.38-10T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3018652	NM_002485.5(NBN):c.172-10A>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3014880	NM_002485.5(NBN):c.472A>G (p.Thr158Ala)	NBN (T158A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 3014596	NM_002485.5(NBN):c.1992T>A (p.Ile664=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 3011122	NM_002485.5(NBN):c.321-12T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3009824	NM_002485.5(NBN):c.762A>G (p.Glu254=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3009714	NM_002485.5(NBN):c.172-15T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 3009172	NM_002485.5(NBN):c.26G>A (p.Gly9Asp)	NBN (G9D)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 3003381	NM_002485.5(NBN):c.1643A>G (p.Asn548Ser)	NBN (N466S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2999711	NM_002485.5(NBN):c.403C>T (p.Leu135Phe)	NBN (L135F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 2996676	NM_002485.5(NBN):c.1979G>T (p.Arg660Ile)	NBN (R660I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
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 2992102	NM_002485.5(NBN):c.174T>C (p.Ser58=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2988150	NM_002485.5(NBN):c.1398-17T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2984515	NM_002485.5(NBN):c.2031T>A (p.Asp677Glu)	NBN (D595E +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2984504	NM_002485.5(NBN):c.2234+12T>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 2978974	NM_002485.5(NBN):c.1974A>T (p.Glu658Asp)	NBN (E576D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance

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