"GeneDx"[submitter] AND "LOC126860438"[gene] - ClinVar

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

Search results

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
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 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)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 185635	NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)	LOC126860438, NBN (S638Y +1 more)	Single nucleotide variant (missense variant)	not specified +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)	Hereditary cancer-predisposing syndrome +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)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 232887	NM_002485.5(NBN):c.1902T>G (p.Ala634=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Microcephaly, normal intelligence and immunodeficiency +2 more	GLikely benign
Select item 378237	NM_002485.5(NBN):c.1893A>G (p.Leu631=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 418857	NM_002485.5(NBN):c.1891C>G (p.Leu631Val)	LOC126860438, NBN (L631V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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)	Microcephaly, normal intelligence and immunodeficiency +3 more	GUncertain significance
Select item 492103	NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)	LOC126860438, NBN (E628fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 411755	NM_002485.5(NBN):c.1885G>T (p.Asp629Tyr)	LOC126860438, NBN (D629Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GUncertain significance
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 230646	NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)	LOC126860438, NBN (K627R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 142193	NM_002485.5(NBN):c.1871G>A (p.Arg624His)	LOC126860438, NBN (R624H +1 more)	Single nucleotide variant (missense variant)	not provided +3 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 142152	NM_002485.5(NBN):c.1848A>G (p.Gln616=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1190117	NM_002485.5(NBN):c.1846C>A (p.Gln616Lys)	LOC126860438, NBN (Q534K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201726	NM_002485.5(NBN):c.1846-249A>G	LOC126860438, NBN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179689	NM_002485.5(NBN):c.1846-251A>C	LOC126860438, NBN	Single nucleotide variant (intron variant)	not provided	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: 23