"GeneDx"[submitter] AND "NOP10"[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 315628	NM_001365088.1(SLC12A6):c.-72-71G>A	NOP10, SLC12A6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 315630	NM_018648.4(NOP10):c.*149G>A	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1 +3 more	GBenign/Likely benign
Select item 315631	NM_018648.4(NOP10):c.*136T>C	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy +3 more	GBenign/Likely benign
Select item 315632	NM_018648.4(NOP10):c.*129G>A	NOP10, SLC12A6	Single nucleotide variant (3 prime UTR variant)	Agenesis of the corpus callosum with peripheral neuropathy +3 more	GBenign/Likely benign
Select item 315633	NM_018648.4(NOP10):c.*45G>C	NOP10	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 315634	NM_018648.4(NOP10):c.*41dup	NOP10	Duplication (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 315635	NM_018648.4(NOP10):c.*31C>T	NOP10	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal recessive 1 +2 more	GBenign
Select item 315636	NM_018648.4(NOP10):c.*30A>G	NOP10	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GBenign
Select item 315637	NM_018648.4(NOP10):c.55-9C>T	NOP10	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 466307	NM_018648.4(NOP10):c.55-10C>A	NOP10	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 436023	NM_018648.4(NOP10):c.55-11T>C	NOP10	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal recessive 1 +2 more	GBenign/Likely benign
Select item 261036	NM_018648.4(NOP10):c.55-15G>C	NOP10	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1316650	NM_018648.4(NOP10):c.55-125A>G	NOP10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281454	NM_018648.4(NOP10):c.55-192C>T	NOP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239525	NM_018648.4(NOP10):c.55-210_55-209insCTTCTGACCTCAAG	NOP10	Insertion (intron variant)	not provided	GBenign
Select item 1252235	NM_018648.4(NOP10):c.55-317T>C	NOP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288019	NM_018648.4(NOP10):c.54+192C>A	NOP10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296833	NM_018648.4(NOP10):c.54+21G>A	NOP10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 235529	NM_018648.4(NOP10):c.34G>C (p.Asp12His)	NOP10 (D12H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 369090	NM_018648.3(NOP10):c.-95T>C	LOC130056750, NOP10	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 1317915	NC_000015.10:g.34343179T>C	NOP10	Single nucleotide variant	not provided	GLikely benign
Select item 1316649	NC_000015.10:g.34343182C>T	NOP10	Single nucleotide variant	not provided	GLikely benign
Select item 1317083	NC_000015.10:g.34343198C>G	NOP10	Single nucleotide variant	not provided	GLikely benign
Select item 1317777	NC_000015.10:g.34343396G>A	NOP10, NUTM1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign

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: 26