"GeneDx"[submitter] AND "DGAT1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144948	GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1	ADCK5, ARHGAP39 +74 more	Copy number loss	See cases	GBenign
Select item 58433	GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3	ADCK5, ARHGAP39 +73 more	Copy number gain	See cases	GUncertain significance
Select item 504005	NM_012079.6(DGAT1):c.1462del (p.Ala488fs)	DGAT1 (A488fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 489286	NM_012079.6(DGAT1):c.1311+1G>A	DGAT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 391164	NM_012079.6(DGAT1):c.1260C>G (p.Ser420Arg)	DGAT1 (S420R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 422909	NM_012079.6(DGAT1):c.1007TCT[2] (p.Phe338del)	DGAT1, LOC130001383 (F338del)	Microsatellite (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 1051568	NM_012079.6(DGAT1):c.820C>A (p.Arg274=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 420431	NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser)	DGAT1 (N266S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 139512	NM_012079.6(DGAT1):c.751+2T>C	DGAT1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 402587	NM_012079.6(DGAT1):c.743C>A (p.Thr248Asn)	DGAT1 (T248N)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 421742	NM_012079.6(DGAT1):c.676+1G>A	DGAT1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 548013	NM_012079.6(DGAT1):c.629_631del (p.Ser210del)	DGAT1 (S210del)	Deletion (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 402588	NM_012079.6(DGAT1):c.579C>T (p.Gly193=)	DGAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1231087	NM_012079.6(DGAT1):c.468+46C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1170581	NM_012079.6(DGAT1):c.330-14C>A	DGAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290918	NM_012079.6(DGAT1):c.288+264C>T	DGAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265781	NM_012079.6(DGAT1):c.-39=	DGAT1, LOC130001386	Single nucleotide variant (no sequence alteration)	not provided	GBenign
Select item 1225501	NC_000008.11:g.144327017=	DGAT1, LOC130001386	Single nucleotide variant	not provided	GBenign
Select item 1258998	NC_000008.11:g.144327213A>C	DGAT1, LOC130001386	Single nucleotide variant	not provided	GBenign

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Items: 20