"PreventionGenetics, part of Exact Sciences"[submitter] AND "PPARG"[ge - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3048376	NM_138711.6(PPARG):c.-8-14A>G	PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 2630467	NM_138711.6(PPARG):c.43A>T (p.Ile15Phe)	PPARG (I15F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720030	NM_138711.6(PPARG):c.63C>T (p.Ser21=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2634503	NM_138711.6(PPARG):c.64G>A (p.Val22Ile)	PPARG (V22I +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3051279	NM_138711.6(PPARG):c.132T>A (p.Ser44=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 342920	NM_138711.6(PPARG):c.150C>T (p.Asp50=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related familial partial lipodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 3035411	NM_138711.6(PPARG):c.243A>G (p.Ala81=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3057367	NM_138711.6(PPARG):c.273G>A (p.Gln91=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 2634817	NM_138711.6(PPARG):c.331G>A (p.Val111Ile)	PPARG (V111I +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
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 disorder +3 more	GPathogenic/Likely pathogenic
Select item 757507	NM_138711.6(PPARG):c.390+7A>T	PPARG	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1952169	NM_138711.6(PPARG):c.391-9C>T	PPARG	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2877096	NM_138711.6(PPARG):c.391-5dup	PPARG	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 3037104	NM_138711.6(PPARG):c.391-6T>C	PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 901054	NM_138711.6(PPARG):c.393T>C (p.Gly131=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 747186	NM_138711.6(PPARG):c.402G>T (p.Arg134=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +1 more	GLikely benign
Select item 342924	NM_138711.6(PPARG):c.417G>A (p.Leu139=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related familial partial lipodystrophy +4 more	GConflicting classifications of pathogenicity
Select item 1479536	NM_138711.6(PPARG):c.428A>G (p.Tyr143Cys)	PPARG (Y145C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3039994	NM_138711.6(PPARG):c.441T>C (p.Asp147=)	PPARG (I5T)	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
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 1555861	NM_138711.6(PPARG):c.675G>A (p.Pro225=)	LOC114803475, PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +1 more	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 2718555	NM_138711.6(PPARG):c.698C>T (p.Ala233Val)	LOC114803475, PPARG (A263V +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder +1 more	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 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 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 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 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 2634217	NM_138711.6(PPARG):c.736G>A (p.Val246Ile)	PPARG (V246I +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 2635288	NM_138711.6(PPARG):c.742T>C (p.Tyr248His)	PPARG (Y248H +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3036791	NM_138711.6(PPARG):c.801C>T (p.Pro267=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 8135	NM_138711.6(PPARG):c.857G>A (p.Arg286His)	PPARG (R77H +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 709025	NM_138711.6(PPARG):c.861C>T (p.Ser287=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +1 more	GLikely benign
Select item 712679	NM_138711.6(PPARG):c.894C>A (p.Ala298=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder +1 more	GBenign/Likely benign
Select item 436394	NM_138711.6(PPARG):c.913G>C (p.Val305Leu)	PPARG (V335L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3057846	NM_138711.6(PPARG):c.993G>C (p.Leu331Phe)	PPARG (L122F +2 more)	Single nucleotide variant (missense variant +1 more)	PPARG-related disorder	GUncertain significance
Select item 3048704	NM_138711.6(PPARG):c.1140C>T (p.Ser380=)	PPARG	Single nucleotide variant (synonymous variant +1 more)	PPARG-related disorder	GLikely benign
Select item 3031383	NM_138711.6(PPARG):c.1181-10G>T	PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 3043338	NM_138711.6(PPARG):c.1181-6C>A	PPARG	Single nucleotide variant (intron variant)	PPARG-related disorder	GLikely benign
Select item 3049705	NM_138711.6(PPARG):c.1266C>T (p.Asn422=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related disorder	GLikely benign
Select item 717269	NM_138711.6(PPARG):c.1335G>A (p.Thr445=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	PPARG-related disorder +1 more	GBenign/Likely benign
Select item 343050	NM_138711.6(PPARG):c.1362C>T (p.Ile454=)	PPARG	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 3044120	NM_138711.6(PPARG):c.*3G>A	PPARG	Single nucleotide variant (3 prime UTR variant)	PPARG-related disorder	GLikely benign

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Items: 44