"Counsyl"[submitter] AND "NBN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557920	NM_002485.5(NBN):c.364_393del	NBN	Deletion (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 554991	NM_002485.5(NBN):c.2238C>G (p.Tyr746Ter)	NBN (Y746* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
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 552567	NM_002485.5(NBN):c.2235-12C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	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 490054	NM_002485.5(NBN):c.2219C>T (p.Ala740Val)	NBN (A740V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	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 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 371428	NM_002485.5(NBN):c.2185-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia +2 more	GLikely pathogenic
Select item 182709	NM_002485.5(NBN):c.2184+8G>C	NBN	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 182737	NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)	NBN (R714* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 182728	NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)	NBN (S706* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 185152	NM_002485.5(NBN):c.2071-1G>C	NBN	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 219601	NM_002485.5(NBN):c.2071-4A>G	NBN	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 371189	NM_002485.5(NBN):c.2070+2del	NBN	Deletion (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely pathogenic
Select item 490053	NM_002485.5(NBN):c.2070+1G>A	NBN	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 370922	NM_002485.5(NBN):c.2049_2050delinsT (p.Lys683fs)	NBN (K601fs +1 more)	Indel (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 219546	NM_002485.5(NBN):c.2038G>A (p.Gly680Ser)	NBN (G680S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 552387	NM_002485.5(NBN):c.2029GAT[1] (p.Asp678del)	NBN (D678del +1 more)	Microsatellite (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 370899	NM_002485.5(NBN):c.2000_2001del (p.Ser667fs)	NBN (S585fs +1 more)	Microsatellite (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic/Likely pathogenic
Select item 127863	NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)	NBN (S667P +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +5 more	GConflicting classifications of pathogenicity
Select item 370663	NM_002485.5(NBN):c.1974del (p.Glu658fs)	NBN (E576fs)	Deletion (frameshift variant)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
Select item 138428	NM_002485.5(NBN):c.1914+10G>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 141273	NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	LOC126860438, NBN (S638P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 142559	NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)	LOC126860438, NBN (K635* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 411774	NM_002485.5(NBN):c.1873G>A (p.Glu625Lys)	LOC126860438, NBN (E625K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 370589	NM_002485.5(NBN):c.1848del (p.Glu617fs)	LOC126860438, NBN (E617fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +2 more	GPathogenic/Likely pathogenic
Select item 550309	NM_002485.5(NBN):c.1846-5_1846-2dup	LOC126860438, NBN	Duplication (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 371415	NM_002485.5(NBN):c.1846-1G>A	LOC126860438, NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 554070	NM_002485.5(NBN):c.1749GGA[1] (p.Glu585del)	NBN (E585del +1 more)	Microsatellite (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 219533	NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)	NBN (Q583* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 184862	NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	NBN (E575* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 127861	NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)	NBN (L574I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 138427	NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)	NBN (E564K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 371069	NM_002485.5(NBN):c.1640del (p.Arg546_Ser547insTer)	NBN	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 370229	NM_002485.5(NBN):c.1587dup (p.Ser530fs)	NBN (S448fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 142521	NM_002485.5(NBN):c.1520A>G (p.His507Arg)	NBN (H507R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 184816	NM_002485.5(NBN):c.1465C>G (p.Leu489Val)	NBN (L489V +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 232495	NM_002485.5(NBN):c.1430C>T (p.Ser477Leu)	NBN (S477L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 234385	NM_002485.5(NBN):c.1398-10T>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 557162	NM_002485.5(NBN):c.1396del (p.Arg466fs)	NBN (R466fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 127009	NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)	NBN (L421S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +6 more	GConflicting classifications of pathogenicity
Select item 127856	NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	NBN (K408E +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GBenign/Likely benign
Select item 127010	NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)	NBN (P401R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 141731	NM_002485.5(NBN):c.1142del (p.Pro381fs)	NBN (P299fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 371223	NM_002485.5(NBN):c.1125-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 553588	NM_002485.5(NBN):c.1124+37C>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 138426	NM_002485.5(NBN):c.1124+6G>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141915	NM_002485.5(NBN):c.1124+5A>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 371357	NM_002485.5(NBN):c.1124+1G>A	NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 553351	NM_002485.5(NBN):c.1104_1109del (p.Ser369_Glu370del)	NBN	Deletion (inframe_deletion)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 190229	NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)	NBN (Q344* +1 more)	Single nucleotide variant (nonsense)	Microcephaly, normal intelligence and immunodeficiency +4 more	GPathogenic/Likely pathogenic
Select item 530744	NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del)	NBN (T337del +1 more)	Microsatellite (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 553796	NM_002485.5(NBN):c.995-2A>C	NBN	Single nucleotide variant (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely pathogenic
Select item 232050	NM_002485.5(NBN):c.995-2A>G	NBN	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 134877	NM_002485.5(NBN):c.872A>G (p.Gln291Arg)	NBN (Q291R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 127879	NM_002485.5(NBN):c.758C>T (p.Thr253Ile)	NBN (T253I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 258770	NM_002485.5(NBN):c.703-18G>A	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 220608	NM_002485.5(NBN):c.702+7A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 371225	NM_002485.5(NBN):c.702+1G>A	NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely pathogenic
Select item 141380	NM_002485.5(NBN):c.671G>A (p.Gly224Glu)	NBN (G224E +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 136046	NM_002485.5(NBN):c.664T>C (p.Phe222Leu)	NBN (F222L +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +5 more	GUncertain significance
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly +6 more	GPathogenic
Select item 141888	NM_002485.5(NBN):c.644G>A (p.Arg215Gln)	NBN (R215Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 6948	NM_002485.5(NBN):c.643C>T (p.Arg215Trp)	NBN (R215W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 140805	NM_002485.5(NBN):c.633T>A (p.Asp211Glu)	NBN (D211E +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +5 more	GUncertain significance
Select item 127874	NM_002485.5(NBN):c.595C>T (p.Pro199Ser)	NBN (P199S +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +4 more	GConflicting classifications of pathogenicity
Select item 551361	NM_002485.5(NBN):c.590dup (p.Tyr197Ter)	NBN (Y115* +1 more)	Duplication (nonsense)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 551708	NM_002485.5(NBN):c.585-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely pathogenic
Select item 370812	NM_002485.5(NBN):c.531del (p.Phe177fs)	NBN (F95fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 186805	NM_002485.5(NBN):c.483A>G (p.Thr161=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 239200	NM_002485.5(NBN):c.480+10A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 550308	NM_002485.5(NBN):c.432del (p.Glu145fs)	NBN (E63fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 185980	NM_002485.5(NBN):c.415A>G (p.Thr139Ala)	NBN (T139A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 558421	NM_002485.5(NBN):c.380_383delinsAC (p.Ala127fs)	NBN (A127fs +1 more)	Indel (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 182704	NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)	NBN (S118del +1 more)	Microsatellite (inframe_deletion)	not provided +4 more	GUncertain significance
Select item 219644	NM_002485.5(NBN):c.340G>T (p.Val114Phe)	NBN (V114F +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia +5 more	GConflicting classifications of pathogenicity
Select item 219877	NM_002485.5(NBN):c.321-3C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 370898	NM_002485.5(NBN):c.317dup (p.Arg107fs)	NBN (R107fs +1 more)	Duplication (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GPathogenic/Likely pathogenic
Select item 140828	NM_002485.5(NBN):c.306del (p.Phe102fs)	NBN (F20fs)	Deletion (frameshift variant)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
Select item 142227	NM_002485.5(NBN):c.278C>T (p.Ser93Leu)	NBN (S93L +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 221045	NM_002485.5(NBN):c.266G>A (p.Arg89Gln)	NBN (R89Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 184749	NM_002485.5(NBN):c.266G>C (p.Arg89Pro)	NBN (R89P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 370213	NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	NBN (R89* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 187236	NM_002485.5(NBN):c.260T>C (p.Phe87Ser)	NBN (F87S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 161598	NM_002485.5(NBN):c.244A>G (p.Lys82Glu)	NBN (K82E)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 142014	NM_002485.5(NBN):c.224G>C (p.Gly75Ala)	NBN (G75A)	Single nucleotide variant (5 prime UTR variant +1 more)	Aplastic anemia +4 more	GUncertain significance
Select item 127867	NM_002485.5(NBN):c.220T>C (p.Tyr74His)	NBN (Y74H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +5 more	GUncertain significance
Select item 553525	NM_002485.5(NBN):c.216_217insTT (p.Lys73fs)	NBN (K73fs)	Insertion (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GPathogenic/Likely pathogenic
Select item 558568	NM_002485.5(NBN):c.214_215insGGAACCGCTCGGGGCAGC (p.Ser72delinsTrpAsnArgSerGlyGlnPro)	NBN	Insertion (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 77458	NM_002485.5(NBN):c.190C>T (p.Pro64Ser)	NBN (P64S)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 186540	NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)	NBN	Deletion (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 370312	NM_002485.5(NBN):c.178dup (p.Thr60fs)	NBN (T60fs)	Duplication (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 127017	NM_002485.5(NBN):c.172-529G>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 142185	NM_002485.5(NBN):c.171+4T>C	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 370793	NM_002485.5(NBN):c.163_171+3del	NBN	Deletion (splice donor variant)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
Select item 370215	NM_002485.5(NBN):c.171+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia +3 more	GLikely pathogenic
Select item 371121	NM_002485.5(NBN):c.156_157del (p.Ser53fs)	NBN	Deletion (5 prime UTR variant +1 more)	Acute lymphoid leukemia +6 more	GPathogenic/Likely pathogenic
Select item 182703	NM_002485.5(NBN):c.105_135del (p.Ile35fs)	NBN (I35fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity

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