ClinVar for MedGen (Select 318592) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065518	NM_006412.4(AGPAT2):c.158del (p.Gly53fs)	AGPAT2 (G53fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 2506961	NM_006412.4(AGPAT2):c.316+1G>T	AGPAT2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 2502258	NM_006412.4(AGPAT2):c.151C>T (p.Arg51Cys)	AGPAT2 (R51C)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 2170449	NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)	AGPAT2 (K216L +1 more)	Inversion (missense variant)	AGPAT2-related condition +2 more	GUncertain significance
Select item 2057769	NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del)	AGPAT2 (K184del +1 more)	Microsatellite (inframe_deletion)	Congenital generalized lipodystrophy type 1 +1 more	GUncertain significance
Select item 1806161	NM_006412.4(AGPAT2):c.493-2A>G	AGPAT2	Single nucleotide variant (intron variant +1 more)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 1803905	NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg)	AGPAT2 (P231R +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 1803896	NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr)	AGPAT2 (A8T)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 1687558	NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter)	AGPAT2 (L13*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 1338051	NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro)	AGPAT2 (R90P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1337369	NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser)	AGPAT2 (G64S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1285417	NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	AGPAT2 (E197* +1 more)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1	GLikely pathogenic
Select item 1188862	NM_006412.4(AGPAT2):c.183-60G>C	AGPAT2	Single nucleotide variant (intron variant)	not provided +1 more	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 1072415	NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)	AGPAT2 (L124fs)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 1 +1 more	GPathogenic
Select item 917424	NM_006412.4(AGPAT2):c.230G>A (p.Arg77His)	AGPAT2 (R77H)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +2 more	GConflicting classifications of pathogenicity
Select item 915079	NM_006412.4(AGPAT2):c.54G>A (p.Val18=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915078	NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915052	NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915051	NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)	AGPAT2 (P263L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 915050	NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915049	NM_006412.4(AGPAT2):c.*34C>G	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 915048	NM_006412.4(AGPAT2):c.*48T>C	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 914995	NM_006412.4(AGPAT2):c.*572C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 914526	NM_006412.4(AGPAT2):c.*102C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 914525	NM_006412.4(AGPAT2):c.*211G>A	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913830	NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)	AGPAT2 (R121G)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913829	NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)	AGPAT2 (M133V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913828	NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)	AGPAT2 (F139V)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913448	NM_006412.4(AGPAT2):c.493-7C>T	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913447	NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)	AGPAT2 (K216M +1 more)	Single nucleotide variant (missense variant)	AGPAT2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 913412	NM_006412.4(AGPAT2):c.*232C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913411	NM_006412.4(AGPAT2):c.*236C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 913410	NM_006412.4(AGPAT2):c.*277C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913409	NM_006412.4(AGPAT2):c.*382C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913408	NM_006412.4(AGPAT2):c.*411C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913042	NM_006412.4(AGPAT2):c.*488C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 913041	NM_006412.4(AGPAT2):c.*510C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 912371	NM_006412.4(AGPAT2):c.-19T>C	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 912370	NM_006412.4(AGPAT2):c.-18C>A	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 912322	NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)	AGPAT2 (R218Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 800897	NM_006412.4(AGPAT2):c.335del (p.Pro112fs)	AGPAT2 (P112fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 771430	NM_006412.4(AGPAT2):c.273C>G (p.Pro91=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 735097	NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)	AGPAT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 728009	NM_006412.4(AGPAT2):c.24C>G (p.Ala8=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1 +1 more	GLikely benign
Select item 723485	NM_006412.4(AGPAT2):c.408G>A (p.Gly136=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1 +1 more	GLikely benign
Select item 710852	NM_006412.4(AGPAT2):c.762C>T (p.Thr254=)	AGPAT2	Single nucleotide variant (synonymous variant)	AGPAT2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 636331	NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn)	AGPAT2 (T233N +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 549712	NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs)	AGPAT2 (S208fs +1 more)	Deletion (frameshift variant)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 549711	NM_006412.4(AGPAT2):c.513del (p.Glu172fs)	AGPAT2 (E172fs)	Deletion (frameshift variant +1 more)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 549536	NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val)	AGPAT2 (F70V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 501494	NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)	AGPAT2 (A239V +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +2 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 393427	NM_006412.4(AGPAT2):c.199G>A (p.Val67Met)	AGPAT2 (V67M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 393426	NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys)	AGPAT2 (R114C)	Single nucleotide variant (missense variant)	Monogenic diabetes +3 more	GConflicting classifications of pathogenicity
Select item 393425	NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)	AGPAT2 (K120R)	Single nucleotide variant (missense variant)	Monogenic diabetes +4 more	GConflicting classifications of pathogenicity
Select item 393424	NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)	AGPAT2 (K214E +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1 +2 more	GConflicting classifications of pathogenicity
Select item 393423	NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)	AGPAT2 (A270V +1 more)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 374348	NM_006412.4(AGPAT2):c.492+4_492+7del	AGPAT2	Deletion (splice donor variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 374338	NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter)	AGPAT2 (W168*)	Single nucleotide variant (nonsense +1 more)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 372113	NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)	AGPAT2	Deletion (inframe_deletion)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 372112	NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)	AGPAT2 (A238G +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 372111	NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)	AGPAT2 (Q226* +1 more)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 372110	NM_006412.4(AGPAT2):c.661+2T>G	AGPAT2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 372109	NM_006412.4(AGPAT2):c.538del (p.Asp180fs)	AGPAT2 (D180fs)	Deletion (frameshift variant +1 more)	Congenital generalized lipodystrophy type 1	Gnot provided
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 372107	NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)	AGPAT2	Deletion	Congenital generalized lipodystrophy type 1	GPathogenic
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 372105	NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)	AGPAT2 (S100N)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GPathogenic
Select item 372104	NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)	AGPAT2 (W65*)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 372103	NM_006412.4(AGPAT2):c.182+1G>A	AGPAT2	Single nucleotide variant (splice donor variant)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 372102	NM_006412.4(AGPAT2):c.183-2A>G	AGPAT2	Single nucleotide variant (splice acceptor variant)	Congenital generalized lipodystrophy type 1	Gnot provided
Select item 365941	NM_006412.4(AGPAT2):c.-68C>G	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365940	NM_006412.4(AGPAT2):c.-67G>C	AGPAT2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 365939	NM_006412.4(AGPAT2):c.-62G>A	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365938	NM_006412.4(AGPAT2):c.-61G>C	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365936	NM_006412.4(AGPAT2):c.-4G>C	AGPAT2	Single nucleotide variant (5 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365934	NM_006412.4(AGPAT2):c.182+6G>A	AGPAT2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 365933	NM_006412.4(AGPAT2):c.182+8C>T	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 1 +1 more	GBenign/Likely benign
Select item 365932	NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)	AGPAT2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 365931	NM_006412.4(AGPAT2):c.234C>T (p.Phe78=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
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 365929	NM_006412.4(AGPAT2):c.316+15G>A	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 1	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	GUncertain significance
Select item 365927	NM_006412.4(AGPAT2):c.453A>G (p.Thr151=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365926	NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu)	AGPAT2 (R159L)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365925	NM_006412.4(AGPAT2):c.483C>T (p.Val161=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365924	NM_006412.4(AGPAT2):c.493-3C>T	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy +1 more	GUncertain significance
Select item 365923	NM_006412.4(AGPAT2):c.604G>A (p.Val202Met)	AGPAT2 (V202M +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365922	NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	AGPAT2 (K216* +1 more)	Single nucleotide variant (nonsense)	Congenital generalized lipodystrophy type 1 +1 more	GConflicting classifications of pathogenicity
Select item 365921	NM_006412.4(AGPAT2):c.662-5C>G	AGPAT2	Single nucleotide variant (intron variant)	Congenital generalized lipodystrophy type 1	GLikely benign
Select item 365920	NM_006412.4(AGPAT2):c.720C>T (p.Asp240=)	AGPAT2	Single nucleotide variant (synonymous variant)	AGPAT2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 365919	NM_006412.4(AGPAT2):c.732C>T (p.Leu244=)	AGPAT2	Single nucleotide variant (synonymous variant)	AGPAT2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 365918	NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp)	AGPAT2 (R250W +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365917	NM_006412.4(AGPAT2):c.783G>A (p.Lys261=)	AGPAT2	Single nucleotide variant (synonymous variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365916	NM_006412.4(AGPAT2):c.820G>A (p.Val274Met)	AGPAT2 (V274M +1 more)	Single nucleotide variant (missense variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
Select item 365915	NM_006412.4(AGPAT2):c.*45C>A	AGPAT2	Single nucleotide variant (3 prime UTR variant)	Congenital generalized lipodystrophy type 1	GUncertain significance
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 365913	NM_006412.4(AGPAT2):c.*157C>T	AGPAT2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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