C1720861[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285541	NM_138711.6(PPARG):c.530-1G>A	LOC114803475, PPARG	Single nucleotide variant (splice acceptor variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 1341522	NM_138711.6(PPARG):c.544C>T (p.Arg182Trp)	LOC114803475, PPARG (R182W +2 more)	Single nucleotide variant (missense variant +1 more)	Carotid intimal medial thickness 1 +2 more	GConflicting classifications of pathogenicity
Select item 983029	NM_138711.6(PPARG):c.614_615del (p.Glu205fs)	LOC114803475, PPARG (E205fs +2 more)	Microsatellite (frameshift variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 976149	NM_138711.6(PPARG):c.614_616delinsC (p.Glu205fs)	LOC114803475, PPARG (E205fs +2 more)	Indel (frameshift variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 976317	NM_138711.6(PPARG):c.629G>C (p.Arg210Pro)	LOC114803475, PPARG (R210P +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 2500326	NM_138711.6(PPARG):c.1318C>T (p.Leu440Phe)	PPARG (L231F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related familial partial lipodystrophy	GUncertain significance

ClinVar