ClinVar for MedGen (Select 328393) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578156	NM_138711.6(PPARG):c.315G>C (p.Met105Ile)	PPARG (M105I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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
Select item 2412803	NM_138711.6(PPARG):c.258T>G (p.Tyr86Ter)	PPARG (Y116* +2 more)	Single nucleotide variant (nonsense +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 1676242	NM_138711.6(PPARG):c.841C>T (p.Gln281Ter)	PPARG (Q281* +2 more)	Single nucleotide variant (nonsense +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 1341578	NM_138711.6(PPARG):c.1124T>C (p.Leu375Pro)	PPARG (L166P +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
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 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 1098721	NM_138711.6(PPARG):c.353G>A (p.Gly118Glu)	PPARG (G118E +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 1070305	NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys)	PPARG (Y121C +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy +3 more	GPathogenic/Likely pathogenic
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 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 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 902829	NM_138711.6(PPARG):c.1224A>G (p.Gln408=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 901923	NM_138711.6(PPARG):c.629G>A (p.Arg210Gln)	LOC114803475, PPARG (R240Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 901544	NM_138711.6(PPARG):c.56A>C (p.Asp19Ala)	PPARG (D21A +2 more)	Single nucleotide variant (missense variant +1 more)	Obesity +2 more	GUncertain significance
Select item 901055	NM_138711.6(PPARG):c.431A>G (p.Asp144Gly)	PPARG (D146G +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 901054	NM_138711.6(PPARG):c.393T>C (p.Gly131=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related familial partial lipodystrophy +3 more	GConflicting classifications of pathogenicity
Select item 436406	NM_138711.6(PPARG):c.380A>G (p.Glu127Gly)	PPARG (E129G +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 436405	NM_138711.6(PPARG):c.1271del (p.Pro424fs)	PPARG (P215fs +2 more)	Deletion (3 prime UTR variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 436404	NM_138711.6(PPARG):c.1262T>C (p.Leu421Pro)	PPARG (L451P +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 436400	NM_138711.6(PPARG):c.924_928del (p.Asp308fs)	PPARG (D99fs +2 more)	Microsatellite (frameshift variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 436399	NM_138711.6(PPARG):c.881T>C (p.Ile294Thr)	PPARG (I324T +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 436398	NM_138711.6(PPARG):c.545G>A (p.Arg182Gln)	LOC114803475, PPARG (R184Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 436397	NM_138711.6(PPARG):c.491G>A (p.Arg164Gln)	PPARG (R166Q +3 more)	Single nucleotide variant (missense variant)	PPARG-related familial partial lipodystrophy	GLikely pathogenic
Select item 436395	NM_138711.6(PPARG):c.145G>A (p.Glu49Lys)	PPARG (E51K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 369947	NM_001122955.4(BSCL2):c.1317C>A (p.Val439=)	BSCL2, HNRNPUL2-BSCL2	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 343051	NM_138711.6(PPARG):c.1419C>T (p.Asp473=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related familial partial lipodystrophy +2 more	GUncertain significance
Select item 343050	NM_138711.6(PPARG):c.1362C>T (p.Ile454=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	Obesity +5 more	GBenign/Likely benign
Select item 343049	NM_138711.6(PPARG):c.1281A>G (p.Ser427=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	Obesity +5 more	GBenign/Likely benign
Select item 343048	NM_138711.6(PPARG):c.1116C>A (p.Phe372Leu)	PPARG (F402L +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +2 more	GUncertain significance
Select item 343047	NM_138711.6(PPARG):c.801C>G (p.Pro267=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 342924	NM_138711.6(PPARG):c.417G>A (p.Leu139=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 342923	NM_138711.6(PPARG):c.391-3C>T	PPARG	Single nucleotide variant (intron variant)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 342922	NM_138711.6(PPARG):c.348T>C (p.Ala116=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 342921	NM_138711.6(PPARG):c.198C>T (p.Asp66=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension +2 more	GUncertain significance
Select item 342920	NM_138711.6(PPARG):c.150C>T (p.Asp50=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 342919	NM_138711.6(PPARG):c.-8-28133C>T	PPARG	Single nucleotide variant (5 prime UTR variant +1 more)	Obesity +2 more	GBenign/Likely benign
Select item 130019	NM_138711.6(PPARG):c.-8-28078C>G	PPARG (P12A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 8144	NM_138711.6(PPARG):c.490C>T (p.Arg164Trp)	PPARG (R194W +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 8143	NM_138711.6(PPARG):c.478T>A (p.Cys160Ser)	PPARG (C190S +3 more)	Single nucleotide variant (missense variant)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 8142	NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys)	PPARG (R425C +3 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GPathogenic
Select item 8141	NM_138711.6(PPARG):c.1074T>A (p.Phe358Leu)	PPARG (F388L +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 8139	NM_138711.6(PPARG):c.1341C>T (p.His447=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 8137	NM_138711.6(PPARG):c.862G>A (p.Val288Met)	PPARG (V318M +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 8136	NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu)	PPARG (P495L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related familial partial lipodystrophy +2 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 45