"GeneDx"[submitter] AND "LOC130065586"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 58970	GRCh38/hg38 20p11.21(chr20:25089431-25492048)x3	ABHD12, ENTPD6 +31 more	Copy number gain	See cases	GUncertain significance
Select item 58971	GRCh38/hg38 20p11.21(chr20:25099947-25468308)x3	ABHD12, ENTPD6 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1526361	NM_001042472.3(ABHD12):c.149C>T (p.Pro50Leu)	ABHD12, LOC130065586 (P50L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1019058	NM_001042472.3(ABHD12):c.135G>A (p.Pro45=)	ABHD12, LOC130065586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1150165	NM_001042472.3(ABHD12):c.118C>G (p.Leu40Val)	ABHD12, LOC130065586 (L40V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1226455	NM_001042472.3(ABHD12):c.103C>T (p.Arg35Cys)	ABHD12, LOC130065586 (R35C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1801183	NM_001042472.3(ABHD12):c.39G>C (p.Glu13Asp)	ABHD12, LOC130065586 (E13D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898715	NM_001042472.3(ABHD12):c.26C>T (p.Ala9Val)	ABHD12, LOC130065586 (A9V)	Single nucleotide variant (missense variant)	PHARC syndrome +1 more	GUncertain significance
Select item 337999	NM_001042472.3(ABHD12):c.-40_-39insGGCGGAGGC	ABHD12, LOC130065586	Insertion (5 prime UTR variant)	not provided +1 more	GBenign
Select item 338000	NM_001042472.3(ABHD12):c.-44C>G	ABHD12, LOC130065586	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1289125	NM_001042472.3(ABHD12):c.-48G>A	ABHD12, LOC130065586	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 338002	NM_001042472.3(ABHD12):c.-94C>T	ABHD12, LOC130065586	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 338004	NM_001042472.2(ABHD12):c.-220G>A	ABHD12, LOC130065586	Single nucleotide variant	not provided +1 more	GBenign