4683[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000722, LOC130000723 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 583872	NC_000008.11:g.(?_89921080)_(89984561_?)del	LOC126860438, LOC130000714 +2 more	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 908955	NM_002485.4(NBN):c.*2252T>A	NBN	Single nucleotide variant	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 417614	NC_000008.10:g.(?_90945564)_(90971082_?)dup	LOC126860438, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363891	NM_002485.5(NBN):c.*2212G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 908956	NM_002485.5(NBN):c.*2206C>T	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 908957	NM_002485.5(NBN):c.*2188T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 908958	NM_002485.5(NBN):c.*2129G>T	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 908959	NM_002485.5(NBN):c.*2059A>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363892	NM_002485.5(NBN):c.*1977T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363893	NM_002485.5(NBN):c.*1961T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363894	NM_002485.5(NBN):c.1869_1872del	NBN	Deletion (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363895	NM_002485.5(NBN):c.*1823T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363896	NM_002485.5(NBN):c.*1754T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363897	NM_002485.5(NBN):c.*1692A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 909824	NM_002485.5(NBN):c.*1642A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 909825	NM_002485.5(NBN):c.*1583G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 909826	NM_002485.5(NBN):c.*1562A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 909827	NM_002485.5(NBN):c.*1400C>T	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 909828	NM_002485.5(NBN):c.*1297T>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 910724	NM_002485.5(NBN):c.*1287A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 910725	NM_002485.5(NBN):c.*1267A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 910726	NM_002485.5(NBN):c.*1222A>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 910727	NM_002485.5(NBN):c.*1220C>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363898	NM_002485.5(NBN):c.*1209A>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363899	NM_002485.5(NBN):c.*1013G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363900	NM_002485.5(NBN):c.*987T>G	NBN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363901	NM_002485.5(NBN):c.*983G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363902	NM_002485.5(NBN):c.*937T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 911945	NM_002485.5(NBN):c.*829T>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363903	NM_002485.5(NBN):c.*790T>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363904	NM_002485.5(NBN):c.*757A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 911946	NM_002485.5(NBN):c.*680A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 911947	NM_002485.5(NBN):c.*638G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363905	NM_002485.5(NBN):c.*541G>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 363906	NM_002485.5(NBN):c.*522T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 909018	NM_002485.5(NBN):c.*504A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363907	NM_002485.5(NBN):c.*485A>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363908	NM_002485.5(NBN):c.*419C>T	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GBenign
Select item 127007	NM_002485.5(NBN):c.*401C>G	NBN	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 909019	NM_002485.5(NBN):c.*352C>G	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1216199	NM_002485.5(NBN):c.*316A>G	NBN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 363909	NM_002485.5(NBN):c.*273G>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GBenign
Select item 363910	NM_002485.5(NBN):c.*226T>C	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363911	NM_002485.5(NBN):c.*123T>A	NBN	Single nucleotide variant (3 prime UTR variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 656842	NC_000008.10:g.(?_90947800)_(90971092_?)dup	LOC126860438, NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 584293	NC_000008.11:g.(?_89935572)_(89984571_?)del	LOC126860438, LOC130000714 +1 more	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 583845	NC_000008.10:g.(?_90947800)_(90996799_?)dup	LOC126860438, LOC130000714 +1 more	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 530786	NC_000008.10:g.(?_90947804)_(90955600_?)dup	NBN	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 530784	NC_000008.11:g.(?_89935576)_(89981529_?)del	LOC126860438, NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GPathogenic
Select item 461487	NC_000008.10:g.(?_90947804)_(90996795_?)dup	LOC126860438, LOC130000714 +1 more	Duplication	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 461485	NC_000008.11:g.(?_89935576)_(89937081_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 422212	NM_002485.5(NBN):c.2_3del	NBN	Deletion (3 prime UTR variant)	not specified	GLikely benign
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 216001	NM_002485.4(NBN):c.2185-?_*(1_?)del	NBN	Deletion	Microcephaly, normal intelligence and immunodeficiency	GLikely pathogenic
Select item 2771503	NM_002485.5(NBN):c.2263T>C (p.Ter755Gln)	NBN	Single nucleotide variant (stop lost)	Microcephaly, normal intelligence and immunodeficiency	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 1957837	NM_002485.5(NBN):c.2260A>G (p.Arg754Gly)	NBN (R754G +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1314071	NM_002485.5(NBN):c.2260A>C (p.Arg754=)	NBN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1150284	NM_002485.5(NBN):c.2259A>G (p.Arg753=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 1014298	NM_002485.5(NBN):c.2256_2258del (p.Arg754del)	NBN (R672del +1 more)	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 565886	NM_002485.5(NBN):c.2258G>A (p.Arg753Lys)	NBN (R753K +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 363912	NM_002485.5(NBN):c.2258G>C (p.Arg753Thr)	NBN (R753T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 2850550	NM_002485.5(NBN):c.2256G>A (p.Arg752=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
Select item 853227	NM_002485.5(NBN):c.2256del (p.Arg753fs)	NBN (R753fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
Select item 1788512	NM_002485.5(NBN):c.2255G>C (p.Arg752Thr)	NBN (R670T +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +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)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183886	NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	NBN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 220260	NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)	NBN (Y749F +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +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 1034984	NM_002485.5(NBN):c.2242C>T (p.Pro748Ser)	NBN (P666S +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	GUncertain significance
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)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2113242	NM_002485.5(NBN):c.2239A>G (p.Asn747Asp)	NBN (N665D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency	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)	Microcephaly, normal intelligence and immunodeficiency	GLikely benign
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 480044	NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)	NBN (Y746* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 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 1801525	NM_002485.5(NBN):c.2235-1G>A	NBN	Single nucleotide variant (splice acceptor variant)	Gastric cancer	GPathogenic
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

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