"GeneDx"[submitter] AND "LOC129933002"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 58810	GRCh38/hg38 2p25.3(chr2:2542162-3678127)x3	ADI1, ALLC +44 more	Copy number gain	See cases	GUncertain significance
Select item 58836	GRCh38/hg38 2p25.3(chr2:3293776-3858635)x3	ADI1, ALLC +29 more	Copy number gain	See cases	GUncertain significance
Select item 2142955	NM_002936.6(RNASEH1):c.68G>A (p.Arg23His)	LOC129933002, RNASEH1 (R23H)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1706193	NM_002936.6(RNASEH1):c.58C>T (p.Arg20Cys)	LOC129933002, RNASEH1 (R20C)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1212161	NM_002936.6(RNASEH1):c.-47C>T	LOC129933002, RNASEH1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1275935	NM_002936.6(RNASEH1):c.-56G>T	LOC129933002, RNASEH1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 673768	NM_002936.4(RNASEH1):c.-126A>G	LOC129933002, RNASEH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 683667	NM_002936.4(RNASEH1):c.-128T>C	LOC129933002, RNASEH1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign