Related gene-specific medical variations for Gene (Select 5468) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358997	NM_138711.6(PPARG):c.221-1G>C	PPARG	Single nucleotide variant (splice acceptor variant)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 3358792	NM_138711.6(PPARG):c.729+35C>T	LOC114803475, PPARG (A257V +1 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3356360	NM_138711.6(PPARG):c.674C>T (p.Pro225Leu)	LOC114803475, PPARG (P225L +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3351146	NM_138711.6(PPARG):c.711A>G (p.Gly237=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3350744	NM_138711.6(PPARG):c.530-9C>T	LOC114803475, PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 3345593	NM_138711.6(PPARG):c.729+34G>A	LOC114803475, PPARG (A257T +1 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3344116	NM_138711.6(PPARG):c.561G>C (p.Glu187Asp)	LOC114803475, PPARG (E187D +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3247023	NC_000003.11:g.(?_12447361)_(12458673_?)del	PPARG	Deletion	not provided	GUncertain significance
Select item 3061592	NM_138711.6(PPARG):c.530-7T>A	LOC114803475, PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 3057658	NM_138711.6(PPARG):c.618C>T (p.Ser206=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3054277	NM_138711.6(PPARG):c.693G>C (p.Ala231=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3042755	NM_138711.6(PPARG):c.729+36G>A	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3040523	NM_138711.6(PPARG):c.729+25T>C	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3033685	NM_138711.6(PPARG):c.729+73G>A	LOC114803475, PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3024551	NM_138711.6(PPARG):c.551C>T (p.Pro184Leu)	PPARG, LOC114803475 (P184L +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy	GPathogenic
Select item 2910165	NM_138711.6(PPARG):c.692C>A (p.Ala231Glu)	LOC114803475, PPARG (A233E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2893058	NM_138711.6(PPARG):c.619G>A (p.Ala207Thr)	LOC114803475, PPARG (A237T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2734443	NM_138711.6(PPARG):c.598G>A (p.Asp200Asn)	LOC114803475, PPARG (D230N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718555	NM_138711.6(PPARG):c.698C>T (p.Ala233Val)	LOC114803475, PPARG (A263V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2632802	NM_138711.6(PPARG):c.729+31dup	LOC114803475, PPARG (E256fs +1 more)	Duplication (frameshift variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 2631326	NM_138711.6(PPARG):c.701T>C (p.Ile234Thr)	LOC114803475, PPARG (I234T +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 2305646	NM_138711.6(PPARG):c.590G>A (p.Ser197Asn)	LOC114803475, PPARG (S197N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1640282	NM_138711.6(PPARG):c.729+15G>A	LOC114803475, PPARG	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1555861	NM_138711.6(PPARG):c.675G>A (p.Pro225=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1327159	NM_138711.6(PPARG):c.545_550dup (p.Arg182_Met183dup)	LOC114803475, PPARG	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
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 1238903	NM_138711.6(PPARG):c.729+234C>G	LOC114803475, PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1233710	NM_138711.6(PPARG):c.530-228G>T	LOC114803475, PPARG	Single nucleotide variant (intron variant)	not provided	GBenign
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 930372	NM_138711.6(PPARG):c.46_58del (p.Ser17fs)	PPARG (S19fs +2 more)	Deletion (frameshift variant +1 more)	Obesity	GLikely pathogenic
Select item 901923	NM_138711.6(PPARG):c.629G>A (p.Arg210Gln)	LOC114803475, PPARG (R240Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy +5 more	GConflicting classifications of pathogenicity
Select item 798271	NM_138711.6(PPARG):c.558C>T (p.Ala186=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 436398	NM_138711.6(PPARG):c.545G>A (p.Arg182Gln)	PPARG, LOC114803475 (R184Q +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related familial partial lipodystrophy +1 more	GLikely pathogenic OUncertain significance
Select item 211954	NM_138711.6(PPARG):c.579G>A (p.Ala193=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 37