"National Health Laboratory Service, Universitas Academic Hospital and - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1232508	NM_002485.5(NBN):c.2234+88C>G	NBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 134874	NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)	NBN (N716D +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 1679077	NM_002485.5(NBN):c.2093A>G (p.Lys698Arg)	NBN (K616R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 140767	NM_002485.5(NBN):c.2082T>G (p.Pro694=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +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 1226117	NM_002485.5(NBN):c.2071-61A>T	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1229768	NM_002485.5(NBN):c.2070+33T>C	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 183696	NM_002485.5(NBN):c.2016A>G (p.Pro672=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 258768	NM_002485.5(NBN):c.1915-7A>G	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GBenign
Select item 1679078	NM_002485.5(NBN):c.1914+27A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 132686	NM_002485.5(NBN):c.1914+9C>T	LOC126860438, NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +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)	Microcephaly, normal intelligence and immunodeficiency +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)	not specified +6 more	GBenign/Likely benign
Select item 134873	NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)	NBN (D469Y +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 234385	NM_002485.5(NBN):c.1398-10T>A	NBN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 182707	NM_002485.5(NBN):c.1398-19C>T	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GBenign/Likely benign
Select item 1291313	NM_002485.5(NBN):c.1397+46del	NBN	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 142374	NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)	NBN (T452P +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)	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)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 1679080	NM_002485.5(NBN):c.1124+55T>C	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 492079	NM_002485.5(NBN):c.1124+19C>T	NBN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 199080	NM_002485.5(NBN):c.1124+18C>T	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GBenign
Select item 670315	NM_002485.5(NBN):c.897-42G>C	NBN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1252107	NM_002485.5(NBN):c.897-64A>G	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign
Select item 1243368	NM_002485.5(NBN):c.896+36G>A	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +2 more	GBenign/Likely benign
Select item 1249631	NM_002485.5(NBN):c.896+24dup	NBN	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1291309	NM_002485.5(NBN):c.896+27A>C	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +1 more	GBenign/Likely benign
Select item 183781	NM_002485.5(NBN):c.804G>A (p.Thr268=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +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 specified +6 more	GBenign/Likely benign
Select item 483980	NM_002485.5(NBN):c.750G>A (p.Arg250=)	NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 967370	NM_002485.5(NBN):c.703-3dup	NBN	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 258770	NM_002485.5(NBN):c.703-18G>A	NBN	Single nucleotide variant (intron variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GBenign
Select item 127011	NM_002485.5(NBN):c.703-29C>T	NBN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1679081	NM_002485.5(NBN):c.703-43dup	NBN	Duplication (intron variant)	Hereditary breast ovarian cancer 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 1679082	NM_002485.5(NBN):c.585-42_585-40del	NBN	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1679083	NM_002485.5(NBN):c.584+46G>A	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 134876	NM_002485.5(NBN):c.553G>C (p.Glu185Gln)	NBN (E185Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 185980	NM_002485.5(NBN):c.415A>G (p.Thr139Ala)	NBN (T139A +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 627967	NM_002485.5(NBN):c.297T>C (p.Phe99=)	NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GConflicting classifications of pathogenicity
Select item 183697	NM_002485.5(NBN):c.102G>A (p.Leu34=)	NBN	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GBenign
Select item 138425	NM_002485.5(NBN):c.38-10T>A	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 490056	NM_002485.5(NBN):c.37+11A>G	NBN	Single nucleotide variant (intron variant)	Acute lymphoid leukemia +5 more	GBenign/Likely benign
Select item 140918	NM_002485.5(NBN):c.37+5G>A	NBN	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 45