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

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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)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 138428	NM_002485.5(NBN):c.1914+10G>A	LOC126860438, NBN	Single nucleotide variant (intron variant)	not provided +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 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)	not provided +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)	not provided +2 more	GLikely benign
Select item 378237	NM_002485.5(NBN):c.1893A>G (p.Leu631=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	not specified +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)	Hereditary cancer-predisposing syndrome +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)	not specified +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)	Hereditary cancer-predisposing syndrome +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)	Aplastic anemia +3 more	GUncertain significance
Select item 492102	NM_002485.5(NBN):c.1863G>A (p.Gly621=)	LOC126860438, NBN	Single nucleotide variant (synonymous variant)	not provided +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

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Items: 23