"GeneDx"[submitter] AND "AGPAT2"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59943	GRCh38/hg38 9q34.2-34.3(chr9:134174698-138138735)x3	ABCA2, AGPAT2 +392 more	Copy number gain	See cases	GPathogenic
Select item 59136	GRCh38/hg38 9q34.2-34.3(chr9:134428674-138154922)x1	UAP1L1, UBAC1 +371 more	Copy number loss	See cases	GPathogenic
Select item 59137	GRCh38/hg38 9q34.3(chr9:135452016-137613738)x1	ABCA2, AGPAT2 +311 more	Copy number loss	See cases	GPathogenic
Select item 365909	NM_006412.4(AGPAT2):c.212_217dup	AGPAT2	Duplication (3 prime UTR variant)	Congenital generalized lipodystrophy +1 more	GBenign/Likely benign
Select item 365913	NM_006412.4(AGPAT2):c.*157C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365914	NM_006412.4(AGPAT2):c.*79C>G	AGPAT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 430117	NM_006412.4(AGPAT2):c.662-2A>C	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1247041	NM_006412.4(AGPAT2):c.662-308G>A	AGPAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188861	NM_006412.4(AGPAT2):c.661+121T>C	AGPAT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 6625	NM_006412.4(AGPAT2):c.589-2A>G	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy +2 more	GPathogenic
Select item 2504299	NM_006412.4(AGPAT2):c.563C>A (p.Ala188Asp)	AGPAT2 (A188D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 372108	NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	AGPAT2 (E172K)	Single nucleotide variant (missense variant +1 more)	Congenital generalized lipodystrophy type 1 +1 more	GPathogenic/Likely pathogenic
Select item 372106	NM_006412.4(AGPAT2):c.492+1G>A	AGPAT2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 387132	NM_006412.4(AGPAT2):c.365A>C (p.Glu122Ala)	AGPAT2 (E122A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 365928	NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)	AGPAT2 (P112L)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +1 more	GConflicting classifications of pathogenicity
Select item 128288	NM_006412.4(AGPAT2):c.317-7C>T	AGPAT2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 365930	NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile)	AGPAT2 (M105I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1304896	NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg)	AGPAT2 (G75R)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +1 more	GUncertain significance
Select item 6624	NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	AGPAT2 (R68*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1188862	NM_006412.4(AGPAT2):c.183-60G>C	AGPAT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1289938	NM_006412.4(AGPAT2):c.182+99C>G	AGPAT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259977	NM_006412.4(AGPAT2):c.40CTG[5] (p.Leu17dup)	AGPAT2	Microsatellite (inframe_insertion)	not provided +2 more	GBenign/Likely benign
Select item 365940	NM_006412.4(AGPAT2):c.-67G>C	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1 +1 more	GBenign
Select item 1266186	NC_000009.12:g.136687531C>A	AGPAT2, LOC130003026	Single nucleotide variant	not provided	GBenign
Select item 1257569	NC_000009.12:g.136687542A>C	AGPAT2, LOC130003026	Single nucleotide variant	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 26