"University of Washington Department of Laboratory Medicine, Universit - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 223884	NM_002485.5(NBN):c.2234+604C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223890	NM_002485.5(NBN):c.2185-1935A>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223881	NM_002485.5(NBN):c.2185-2623A>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223883	NM_002485.5(NBN):c.2185-2624A>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223880	NM_002485.5(NBN):c.1915-627A>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223885	NM_002485.5(NBN):c.1914+744A>C	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223882	NM_002485.5(NBN):c.1398-203G>A	NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 223887	NM_002485.5(NBN):c.995-472A>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223891	NM_002485.5(NBN):c.994+2191G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223889	NM_002485.5(NBN):c.994+2090C>G	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223886	NM_002485.5(NBN):c.703-108T>C	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +7 more	GPathogenic
Select item 223879	NM_002485.5(NBN):c.585-43C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223893	NM_002485.5(NBN):c.584+3101G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223892	NM_002485.5(NBN):c.584+3089G>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223895	NM_002485.5(NBN):c.480+248G>A	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223894	NM_002485.5(NBN):c.321-209C>T	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 223888	NM_002485.5(NBN):c.171+125T>C	NBN	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign

ClinVar

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Items: 20