"Ambry Genetics"[submitter] AND "NBN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 485912	NM_002485.5(NBN):c.*2T>G	NBN	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1788646	NM_002485.5(NBN):c.2261G>C (p.Arg754Thr)	NBN (R672T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1014298	NM_002485.5(NBN):c.2256_2258del (p.Arg754del)	NBN (R672del +1 more)	Deletion (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency +1 more	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 1788512	NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)	NBN (R670T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 461550	NM_002485.5(NBN):c.2250A>T (p.Leu750Phe)	NBN (L750F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 183886	NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	NBN	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
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 220260	NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)	NBN (Y749F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1788340	NM_002485.5(NBN):c.2245T>C (p.Tyr749His)	NBN (Y749H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820956	NM_002485.5(NBN):c.2245T>A (p.Tyr749Asn)	NBN (Y749N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 530781	NM_002485.5(NBN):c.2244T>A (p.Pro748=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 962992	NM_002485.5(NBN):c.2240A>T (p.Asn747Ile)	NBN (N665I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 461549	NM_002485.5(NBN):c.2240A>G (p.Asn747Ser)	NBN (N747S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 1788222	NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)	NBN	Deletion (nonsense)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 1107177	NM_002485.5(NBN):c.2238C>T (p.Tyr746=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 480044	NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	NBN (Y746* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 480053	NM_002485.5(NBN):c.2237A>G (p.Tyr746Cys)	NBN (Y746C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1788201	NM_002485.5(NBN):c.2236T>G (p.Tyr746Asp)	NBN (Y746D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 492113	NM_002485.5(NBN):c.2235A>G (p.Arg745=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 553637	NM_002485.5(NBN):c.2235-2A>G	NBN	Single nucleotide variant (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 481862	NM_002485.5(NBN):c.2235-3C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 483953	NM_002485.5(NBN):c.2235-4G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1641544	NM_002485.5(NBN):c.2235-8_2235-5del	NBN	Microsatellite (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 570009	NM_002485.5(NBN):c.2226_2234+4del	NBN	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 2480194	NM_002485.5(NBN):c.2234+2T>C	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 185026	NM_002485.5(NBN):c.2234+2T>G	NBN	Single nucleotide variant (splice donor variant)	not provided +3 more	GLikely pathogenic
Select item 820948	NM_002485.5(NBN):c.2234+1G>T	NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely pathogenic
Select item 1788147	NM_002485.5(NBN):c.2232T>C (p.Phe744=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 232093	NM_002485.5(NBN):c.2227_2228del (p.Leu743fs)	NBN (L661fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 461547	NM_002485.5(NBN):c.2226T>G (p.Asp742Glu)	NBN (D742E +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GUncertain significance
Select item 230832	NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)	NBN (D742E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1787976	NM_002485.5(NBN):c.2224G>A (p.Asp742Asn)	NBN (D660N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 579083	NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr)	NBN (D742Y +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 136043	NM_002485.5(NBN):c.2220T>C (p.Ala740=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 391097	NM_002485.5(NBN):c.2217T>C (p.Leu739=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182730	NM_002485.5(NBN):c.2215C>G (p.Leu739Val)	NBN (L739V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GUncertain significance
Select item 1787780	NM_002485.5(NBN):c.2212_2213delinsAG (p.Ser738=)	NBN	Indel (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 231330	NM_002485.5(NBN):c.2213C>T (p.Ser738Phe)	NBN (S738F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1602510	NM_002485.5(NBN):c.2211G>A (p.Glu737=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 422616	NM_002485.5(NBN):c.2210_2211del (p.Glu737fs)	NBN (E737fs +1 more)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 231721	NM_002485.5(NBN):c.2211G>T (p.Glu737Asp)	NBN (E737D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1787759	NM_002485.5(NBN):c.2210A>C (p.Glu737Ala)	NBN (E655A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 550990	NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del)	NBN (E737del +1 more)	Microsatellite (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 461546	NM_002485.5(NBN):c.2210A>T (p.Glu737Val)	NBN (E737V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 1787695	NM_002485.5(NBN):c.2206G>A (p.Glu736Lys)	NBN (E736K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 919575	NM_002485.5(NBN):c.2206G>C (p.Glu736Gln)	NBN (E654Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 550305	NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)	NBN (E736* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	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 136042	NM_002485.5(NBN):c.2202A>G (p.Ala734=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GBenign/Likely benign
Select item 2040980	NM_002485.5(NBN):c.2201C>G (p.Ala734Gly)	NBN (A734G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 483988	NM_002485.5(NBN):c.2201C>T (p.Ala734Val)	NBN (A734V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 530748	NM_002485.5(NBN):c.2198A>G (p.His733Arg)	NBN (H733R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 627828	NM_002485.5(NBN):c.2197C>G (p.His733Asp)	NBN (H733D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 136041	NM_002485.5(NBN):c.2196A>G (p.Gln732=)	NBN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 461545	NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)	NBN (Q732* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 1787426	NM_002485.5(NBN):c.2191_2192del (p.Asn731fs)	NBN (N649fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 127866	NM_002485.5(NBN):c.2191A>T (p.Asn731Tyr)	NBN (N731Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186646	NM_002485.5(NBN):c.2190A>G (p.Gln730=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 820845	NM_002485.5(NBN):c.2187A>T (p.Val729=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1787318	NM_002485.5(NBN):c.2185-1G>T	NBN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 371428	NM_002485.5(NBN):c.2185-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia +2 more	GLikely pathogenic
Select item 1787319	NM_002485.5(NBN):c.2185-2del	NBN	Deletion (splice acceptor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1060720	NM_002485.5(NBN):c.2185-20_2185-4del	NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 2452393	NM_002485.5(NBN):c.2185-5G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1787301	NM_002485.5(NBN):c.2184+1_2184+5del	NBN	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1067990	NM_002485.5(NBN):c.2184+2T>G	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 480045	NM_002485.5(NBN):c.2184+1G>A	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 233424	NM_002485.5(NBN):c.2184+1G>T	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 2233546	NM_002485.5(NBN):c.2179dup (p.Met727fs)	NBN (M727fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 480058	NM_002485.5(NBN):c.2179A>G (p.Met727Val)	NBN (M727V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 1016351	NM_002485.5(NBN):c.2177A>G (p.Glu726Gly)	NBN (E644G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 820820	NM_002485.5(NBN):c.2176G>A (p.Glu726Lys)	NBN (E644K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 925004	NM_002485.5(NBN):c.2174A>G (p.Gln725Arg)	NBN (Q643R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 239194	NM_002485.5(NBN):c.2174A>C (p.Gln725Pro)	NBN (Q725P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1171877	NM_002485.5(NBN):c.2172G>T (p.Arg724Ser)	NBN (R642S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 391010	NM_002485.5(NBN):c.2172G>A (p.Arg724=)	NBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 820832	NM_002485.5(NBN):c.2170A>G (p.Arg724Gly)	NBN (R724G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1787019	NM_002485.5(NBN):c.2168T>C (p.Leu723Pro)	NBN (L723P +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 940534	NM_002485.5(NBN):c.2167C>G (p.Leu723Val)	NBN (L641V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 630215	NM_002485.5(NBN):c.2167C>A (p.Leu723Ile)	NBN (L723I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 650429	NM_002485.5(NBN):c.2165G>C (p.Trp722Ser)	NBN (W722S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 480018	NM_002485.5(NBN):c.2164T>G (p.Trp722Gly)	NBN (W722G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 186173	NM_002485.5(NBN):c.2163G>A (p.Glu721=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 960041	NM_002485.5(NBN):c.2161G>C (p.Glu721Gln)	NBN (E639Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 422497	NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)	NBN (E721* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 820812	NM_002485.5(NBN):c.2158G>C (p.Glu720Gln)	NBN (E638Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 233263	NM_002485.5(NBN):c.2158G>A (p.Glu720Lys)	NBN (E720K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 219765	NM_002485.5(NBN):c.2155_2157dup (p.Leu719dup)	NBN	Duplication (inframe_insertion)	Microcephaly, normal intelligence and immunodeficiency +2 more	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 2161749	NM_002485.5(NBN):c.2152G>T (p.Glu718Ter)	NBN (E636* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic
Select item 232256	NM_002485.5(NBN):c.2151A>G (p.Thr717=)	NBN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1786740	NM_002485.5(NBN):c.2150C>G (p.Thr717Arg)	NBN (T635R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 461542	NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)	NBN (T717I +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 127865	NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)	NBN (T717S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 820786	NM_002485.5(NBN):c.2148T>C (p.Asn716=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 134874	NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)	NBN (N716D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GBenign/Likely benign
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 1719238	NM_002485.5(NBN):c.2144A>G (p.Lys715Arg)	NBN (K633R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 1786614	NM_002485.5(NBN):c.2143A>G (p.Lys715Glu)	NBN (K633E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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