Full data view for gene PPARG

Information The variants shown are described using the transcript reference sequence.

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-2-28069G>A r.(=) p.(=) Unknown - likely benign g.12393134G>A - PPARG(NM_015869.4):c.43G>A (p.(Asp15Asn)) - PPARG_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2-14A>G r.(=) p.(=) Unknown - likely benign g.12421189A>G - PPARG(NM_001330615.1):c.-2-14A>G (p.(=)) - PPARG_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27A>G r.(?) p.(Pro9=) Unknown - likely benign g.12421231A>G g.12379732A>G PPARG(NM_001330615.1):c.27A>G (p.(Pro9=)) - PPARG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39C>G r.(?) p.(Thr13=) Unknown - likely benign g.12421243C>G - PPARG(NM_015869.4):c.123C>G (p.(=)) - PPARG_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69C>T r.(?) p.(Ser23=) Unknown - likely benign g.12421273C>T - PPARG(NM_001330615.1):c.69C>T (p.(Ser23=)) - PPARG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.112A>G r.(?) p.(Thr38Ala) Unknown - likely benign g.12421316A>G - PPARG(NM_001330615.1):c.112A>G (p.(Thr38Ala)) - PPARG_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.151G>A r.(?) p.(Glu51Lys) Unknown - VUS g.12421355G>A g.12379856G>A PPARG(NM_001330615.1):c.151G>A (p.(Glu51Lys)) - PPARG_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156C>T r.(?) p.(Asp52=) Unknown - likely benign g.12421360C>T g.12379861C>T PPARG(NM_001330615.1):c.156C>T (p.(Asp52=)) - PPARG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.187G>A r.(?) p.(Ala63Thr) Unknown - likely benign g.12421391G>A - PPARG(NM_015869.4):c.271G>A (p.(Ala91Thr)) - PPARG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226+18A>G r.(=) p.(=) Unknown - likely benign g.12421448A>G - PPARG(NM_005037.5):c.226+18A>G (p.(=)) - PPARG_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257C>T r.(?) p.(Pro86Leu) Unknown - VUS g.12422851C>T - PPARG(NM_015869.4):c.341C>T (p.(Pro114Leu)) - PPARG_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347A>G r.(?) p.(Asp116Gly) Unknown - VUS g.12422941A>G - PPARG(NM_001330615.1):c.347A>G (p.(Asp116Gly)), PPARG(NM_001354668.2):c.431A>G (p.D144G) - PPARG_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347A>G r.(?) p.(Asp116Gly) Unknown - VUS g.12422941A>G - PPARG(NM_001330615.1):c.347A>G (p.(Asp116Gly)), PPARG(NM_001354668.2):c.431A>G (p.D144G) - PPARG_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.354T>C r.(?) p.(Ala118=) Unknown - likely benign g.12422948T>C g.12381449T>C PPARG(NM_001330615.1):c.354T>C (p.(Ala118=)) - PPARG_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.368A>G r.(?) p.(Tyr123Cys) Unknown - likely pathogenic g.12422962A>G - PPARG(NM_015869.4):c.452A>G (p.(Tyr151Cys)) - PPARG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396+7A>T r.(=) p.(=) Unknown - likely benign g.12422997A>T - PPARG(NM_015869.4):c.480+7A>T (p.(=)) - PPARG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397-3C>T r.spl? p.? Unknown - likely benign g.12434110C>T - PPARG(NM_001330615.1):c.397-3C>T (p.?) - PPARG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>T r.(?) p.(=) Unknown - likely benign g.12434124G>T - PPARG(NM_005037.5):c.408G>T (p.(=)) - PPARG_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.409A>G r.(?) p.(Arg137Gly) Unknown - VUS g.12434125A>G - PPARG(NM_015869.4):c.493A>G (p.(Arg165Gly)) - PPARG_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410G>C r.(?) p.(Arg137Thr) Unknown - VUS g.12434126G>C - PPARG(NM_015869.4):c.494G>C (p.(Arg165Thr)) - PPARG_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423G>A r.(?) p.(Leu141=) Unknown - likely benign g.12434139G>A g.12392640G>A PPARG(NM_001330615.1):c.423G>A (p.(Leu141=)) - PPARG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.426G>C r.(?) p.(Lys142Asn) Unknown - VUS g.12434142G>C - PPARG(NM_001330615.1):c.426G>C (p.(Lys142Asn)) - PPARG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.449T>C r.(?) p.(Leu150Pro) Parent #1 ACMG likely pathogenic (dominant) g.12434165T>C g.12392666T>C NM_015869.5:c.533T>C - PPARG_000047 ACMG PM1, PM2, PP2, PP3, PP4 PubMed: da Silva 2024 SCV004697857 - Germline - - - - - DNA SEQ - - FPLD Pat1 PubMed: da Silva 2024 family, several affected (not tested) F - Brazil - - - - - 1 Johan den Dunnen
?/. - c.489G>C r.(?) p.(Gln163His) Unknown - VUS g.12434205G>C - PPARG(NM_015869.4):c.573G>C (p.(Gln191His)) - PPARG_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530A>G r.(?) p.(His177Arg) Unknown - VUS g.12434246A>G - PPARG(NM_138711.6):c.524A>G (p.(His175Arg)) - PPARG_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.557C>T r.(?) p.(Pro186Leu) Parent #1 ACMG likely pathogenic (dominant) g.12447402C>T g.12405903C>T NM_015869.5:c.641C>T - PPARG_000048 ACMG PM1, PM2, PP1, PP2, PP3, PP4, PP5 PubMed: da Silva 2024 SCV004697856 - Germline yes - - - - DNA SEQ - - FPLD FamPat2 PubMed: da Silva 2024 family, 2 affected sibs F - Brazil - - - - - 2 Johan den Dunnen
+/. - c.557C>T r.(?) p.(Pro186Leu) Parent #1 - pathogenic (dominant) g.12447402C>T g.12405903C>T NM_015869.5:c.641C>T - PPARG_000048 - PubMed: da Silva 2024 SCV004697856 - Germline yes - - - - DNA SEQ - - FPLD FamPat3 PubMed: da Silva 2024 sibs M - Brazil - - - - - 1 Johan den Dunnen
?/. - c.565G>A r.(?) p.(Glu189Lys) Unknown - VUS g.12447410G>A g.12405911G>A PPARG(NM_005037.5):c.565G>A (p.(Glu189Lys)) - PPARG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584C>T r.(?) p.(Ala195Val) Unknown - likely benign g.12447429C>T - PPARG(NM_015869.4):c.668C>T (p.(Ala223Val)) - PPARG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.698C>T r.(?) p.(Ala233Val) Unknown - VUS g.12447543C>T - PPARG(NM_015869.4):c.782C>T (p.(Ala261Val)) - PPARG_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705G>A r.(?) p.(Ala235=) Unknown - likely benign g.12447550G>A - PPARG(NM_015869.4):c.789G>A (p.(=)) - PPARG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.735+31dup r.(=) p.(=) Unknown - likely benign g.12447611dup - PPARG(NM_001354668.2):c.850dup (p.(Glu284GlyfsTer68)) - PPARG_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.742G>A r.(?) p.(Val248Ile) Unknown - likely benign g.12458209G>A g.12416710G>A PPARG(NM_005037.5):c.742G>A (p.(Val248Ile)) - PPARG_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.750T>G r.(?) p.(Tyr250*) Unknown - likely pathogenic g.12458217T>G - PPARG(NM_015869.4):c.834T>G (p.(Tyr278Ter)) - PPARG_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.758A>G r.(?) p.(Asn253Ser) Unknown - VUS g.12458225A>G - PPARG(NM_138711.6):c.752A>G (p.(Asn251Ser)) - PPARG_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807C>G r.(?) p.(Pro269=) Unknown - likely benign g.12458274C>G g.12416775C>G PPARG(NM_005037.5):c.807C>G (p.(Pro269=)) - PPARG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807C>T r.(?) p.(Pro269=) Unknown - likely benign g.12458274C>T - PPARG(NM_005037.5):c.807C>T (p.(Pro269=)) - PPARG_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.809del r.(?) p.(Leu270ArgfsTer38) Unknown - pathogenic g.12458276del - PPARG(NM_015869.4):c.893del (p.(Leu298ArgfsTer38)) - PPARG_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.867C>T r.(?) p.(=) Unknown - likely benign g.12458334C>T - PPARG(NM_005037.5):c.867C>T (p.(Ser289=)) - PPARG_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.868G>A r.(?) p.(Val290Met) Parent #1 - pathogenic g.12458335G>A g.12416836G>A - - PPARG_000016 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72551362 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.868G>A r.(?) p.(Val290Met) Unknown - pathogenic g.12458335G>A - PPARG(NM_015869.5):c.952G>A (p.V318M) - PPARG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895T>G r.(?) p.(Tyr299Asp) Unknown - VUS g.12458362T>G - PPARG(NM_015869.4):c.979T>G (p.(Tyr327Asp)) - PPARG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895T>G r.(?) p.(Tyr299Asp) Unknown - VUS g.12458362T>G - PPARG(NM_015869.4):c.979T>G (p.(Tyr327Asp)) - PPARG_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907A>G r.(?) p.(Ile303Val) Unknown - VUS g.12458374A>G - PPARG(NM_015869.4):c.991A>G (p.(Ile331Val)) - PPARG_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.919G>C r.(?) p.(Val307Leu) Unknown - likely benign g.12458386G>C g.12416887G>C PPARG(NM_005037.5):c.919G>C (p.(Val307Leu)) - PPARG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.965T>G r.(?) p.(Val322Gly) Unknown - VUS g.12458432T>G - PPARG(NM_015869.4):c.1049T>G (p.(Val350Gly)) - PPARG_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.969C>T r.(?) p.(His323=) Unknown - likely benign g.12458436C>T g.12416937C>T PPARG(NM_005037.5):c.969C>T (p.(His323=)) - PPARG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970G>C r.(?) p.(Glu324Gln) Unknown - VUS g.12458437G>C g.12416938G>C PPARG(NM_005037.5):c.970G>C (p.(Glu324Gln)), PPARG(NM_015869.5):c.1054G>C (p.E352Q) - PPARG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970G>C r.(?) p.(Glu324Gln) Unknown - VUS g.12458437G>C - PPARG(NM_005037.5):c.970G>C (p.(Glu324Gln)), PPARG(NM_015869.5):c.1054G>C (p.E352Q) - PPARG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1039T>G r.(?) p.(Phe347Val) Unknown - VUS g.12458506T>G g.12417007T>G PPARG(NM_005037.5):c.1039T>G (p.(Phe347Val)) - PPARG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1052A>G r.(?) p.(Glu351Gly) Unknown - VUS g.12458519A>G - PPARG(NM_005037.5):c.1052A>G (p.(Glu351Gly)) - PPARG_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1069C>T r.(?) p.(Arg357Ter) Unknown - pathogenic g.12458536C>T - PPARG(NM_015869.4):c.1153C>T (p.(Arg385Ter)) - PPARG_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1111G>T r.(?) p.(Ala371Ser) Unknown - VUS g.12458578G>T - PPARG(NM_015869.5):c.1195G>T (p.A399S) - PPARG_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1147G>A r.(?) p.(Asp383Asn) Unknown - likely benign g.12458614G>A - - - PPARG_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151T>G r.(?) p.(Leu384Trp) Unknown - VUS g.12458618T>G - PPARG(NM_005037.5):c.1151T>G (p.(Leu384Trp)) - PPARG_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1163T>C r.(?) p.(Ile388Thr) Unknown - VUS g.12458630T>C - PPARG(NM_015869.4):c.1247T>C (p.(Ile416Thr)) - PPARG_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1228C>T r.(?) p.(Gln410*) Unknown - likely pathogenic g.12475438C>T - PPARG(NM_005037.5):c.1228C>T (p.(Gln410Ter)) - PPARG_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1244A>G r.(?) p.(Gln415Arg) Unknown - VUS g.12475454A>G - PPARG(NM_005037.5):c.1244A>G (p.(Gln415Arg)) - PPARG_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1287A>G r.(?) p.(Ser429=) Unknown - benign g.12475497A>G g.12433998A>G PPARG(NM_001330615.1):c.*83A>G (p.(=)) - PPARG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1340C>A r.(?) p.(Thr447Lys) Unknown - VUS g.12475550C>A - PPARG(NM_015869.4):c.1424C>A (p.(Thr475Lys)) - PPARG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368C>T r.(?) p.(Ile456=) Unknown - likely benign g.12475578C>T g.12434079C>T PPARG(NM_001330615.1):c.*164C>T (p.(=)), PPARG(NM_138711.6):c.1362C>T (p.I454=) - PPARG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1368C>T r.(?) p.(Ile456=) Unknown - likely benign g.12475578C>T g.12434079C>T PPARG(NM_001330615.1):c.*164C>T (p.(=)), PPARG(NM_138711.6):c.1362C>T (p.I454=) - PPARG_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1378G>A r.(?) p.(Glu460Lys) Unknown - VUS g.12475588G>A - PPARG(NM_005037.5):c.1378G>A (p.(Glu460Lys)) - PPARG_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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