"GeneDx"[submitter] AND "LOC126863008"[gene] - ClinVar - NCBI

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Items: 10

	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 1271914	NM_001042472.3(ABHD12):c.749+205C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190228	NM_001042472.3(ABHD12):c.749+86C>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1687644	NM_001042472.3(ABHD12):c.745A>G (p.Thr249Ala)	ABHD12, LOC126863008 (T249A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1153681	NM_001042472.3(ABHD12):c.726C>T (p.Ile242=)	ABHD12, LOC126863008	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056297	NM_001042472.3(ABHD12):c.641C>T (p.Thr214Met)	ABHD12, LOC126863008 (T214M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237287	NM_001042472.3(ABHD12):c.620-301G>T	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242476	NM_001042472.3(ABHD12):c.620-332A>G	ABHD12, LOC126863008	Single nucleotide variant (intron variant)	not provided	GBenign