"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC126860438 - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 422452	NM_002485.5(NBN):c.1914+18_1914+21del	LOC126860438, NBN	Deletion (intron variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GLikely benign
Select item 928076	NM_002485.5(NBN):c.1914+20T>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 492106	NM_002485.5(NBN):c.1914+16_1914+18del	LOC126860438, NBN	Microsatellite (intron variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GLikely benign
Select item 138428	NM_002485.5(NBN):c.1914+10G>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 132686	NM_002485.5(NBN):c.1914+9C>T	LOC126860438, NBN	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 802418	NM_002485.5(NBN):c.1914+2_1914+3del	LOC126860438, NBN	Microsatellite (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 492105	NM_002485.5(NBN):c.1911_1914+1del	LOC126860438, NBN	Deletion (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GConflicting classifications of pathogenicity
Select item 185635	NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)	LOC126860438, NBN (S638Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 141273	NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)	LOC126860438, NBN (S638P +1 more)	Single nucleotide variant (missense variant)	not specified +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)	Microcephaly, normal intelligence and immunodeficiency +4 more	GPathogenic/Likely pathogenic
Select item 530770	NM_002485.5(NBN):c.1902T>C (p.Ala634=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 232887	NM_002485.5(NBN):c.1902T>G (p.Ala634=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 378237	NM_002485.5(NBN):c.1893A>G (p.Leu631=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 136039	NM_002485.5(NBN):c.1890A>C (p.Ser630=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 211575	NM_002485.5(NBN):c.1888T>C (p.Ser630Pro)	LOC126860438, NBN (S630P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 492103	NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)	LOC126860438, NBN (E628fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
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 230646	NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)	LOC126860438, NBN (K627R +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 411774	NM_002485.5(NBN):c.1873G>A (p.Glu625Lys)	LOC126860438, NBN (E625K +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
Select item 920598	NM_002485.5(NBN):c.1871G>C (p.Arg624Pro)	LOC126860438, NBN (R624P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142193	NM_002485.5(NBN):c.1871G>A (p.Arg624His)	LOC126860438, NBN (R624H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 485910	NM_002485.5(NBN):c.1870C>T (p.Arg624Cys)	LOC126860438, NBN (R624C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 142085	NM_002485.5(NBN):c.1866G>C (p.Lys622Asn)	LOC126860438, NBN (K622N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 492102	NM_002485.5(NBN):c.1863G>A (p.Gly621=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 919649	NM_002485.5(NBN):c.1851A>C (p.Glu617Asp)	LOC126860438, NBN (E535D +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 230513	NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)	LOC126860438, NBN (E617K +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 370589	NM_002485.5(NBN):c.1848del (p.Glu617fs)	LOC126860438, NBN (E617fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 416880	NM_002485.5(NBN):c.1846-11_1846-7del	LOC126860438, NBN	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 461523	NM_002485.5(NBN):c.1846-9T>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 924610	NM_002485.5(NBN):c.1846-13T>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 30