"KCCC/NGS Laboratory, Kuwait Cancer Control Center"[submitter] AND "NB - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183886	NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 140767	NM_002485.5(NBN):c.2082T>G (p.Pro694=)	NBN	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 258769	NM_002485.5(NBN):c.2071-30A>T	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 183696	NM_002485.5(NBN):c.2016A>G (p.Pro672=)	NBN	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 258768	NM_002485.5(NBN):c.1915-7A>G	NBN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 132686	NM_002485.5(NBN):c.1914+9C>T	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 132690	NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)	LOC126860438, NBN (E628K +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 134872	NM_002485.5(NBN):c.1489A>G (p.Thr497Ala)	NBN (T497A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 182707	NM_002485.5(NBN):c.1398-19C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GBenign/Likely benign
Select item 127856	NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)	NBN (K408E +1 more)	Single nucleotide variant (missense variant)	Acute lymphoid leukemia +6 more	GBenign/Likely benign
Select item 183701	NM_002485.5(NBN):c.1197T>C (p.Asp399=)	NBN	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 492079	NM_002485.5(NBN):c.1124+19C>T	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GBenign
Select item 199080	NM_002485.5(NBN):c.1124+18C>T	NBN	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 378236	NM_002485.5(NBN):c.995-17A>G	NBN	Single nucleotide variant (intron variant)	Acute lymphoid leukemia +3 more	GBenign/Likely benign
Select item 136048	NM_002485.5(NBN):c.939G>A (p.Ala313=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GBenign/Likely benign
Select item 183781	NM_002485.5(NBN):c.804G>A (p.Thr268=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +5 more	GBenign/Likely benign
Select item 134878	NM_002485.5(NBN):c.797C>T (p.Pro266Leu)	NBN (P266L +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
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 127013	NM_002485.5(NBN):c.702+84G>C	NBN	Single nucleotide variant (intron variant)	Acute lymphoid leukemia +1 more	GLikely benign
Select item 134876	NM_002485.5(NBN):c.553G>C (p.Glu185Gln)	NBN (E185Q +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 416890	NM_002485.5(NBN):c.481-4G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 132744	NM_002485.5(NBN):c.381T>C (p.Ala127=)	NBN	Single nucleotide variant (synonymous variant)	Aplastic anemia +5 more	GBenign/Likely benign
Select item 183697	NM_002485.5(NBN):c.102G>A (p.Leu34=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +5 more	GBenign
Select item 490056	NM_002485.5(NBN):c.37+11A>G	NBN	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 140918	NM_002485.5(NBN):c.37+5G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign

ClinVar

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Items: 25