Full data view for gene PLIN1

Information The variants shown are described using the NM_002666.4 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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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.13A>G r.(?) p.(Lys5Glu) Unknown - likely benign g.90220708T>C - PLIN1(NM_001145311.1):c.13A>G (p.(Lys5Glu)) - PLIN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45+20C>T r.(=) p.(=) Unknown - likely benign g.90220656G>A g.89677425G>A PLIN1(NM_001145311.1):c.45+20C>T (p.(=)) - PLIN1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.46-12C>G r.(=) p.(=) Unknown - likely benign g.90216657G>C - PLIN1(NM_001145311.1):c.46-12C>G (p.(=)) - PLIN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46-8C>T r.(=) p.(=) Unknown - VUS g.90216653G>A - PLIN1(NM_001145311.1):c.46-8C>T (p.(=)) - PLIN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46-4_50del r.spl? p.? Unknown - VUS g.90216644_90216652del - PLIN1(NM_001145311.1):c.46-4_50del (p.?) - PLIN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48G>A r.(?) p.(Glu16=) Unknown - likely benign g.90216643C>T - PLIN1(NM_001145311.1):c.48G>A (p.(=)) - PLIN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107G>T r.(?) p.(Cys36Phe) Unknown - likely benign g.90216584C>A - PLIN1(NM_001145311.1):c.107G>T (p.(Cys36Phe)) - PLIN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.123C>A r.(?) p.(Tyr41*) Unknown - VUS g.90216568G>T - PLIN1(NM_002666.4):c.123C>A (p.(Tyr41Ter)) - PLIN1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>A r.(?) p.(=) Unknown - likely benign g.90216544G>T - PLIN1(NM_002666.4):c.147C>A (p.(Pro49=)) - PLIN1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209C>T r.(?) p.(Ala70Val) Unknown - VUS g.90216482G>A - PLIN1(NM_002666.4):c.209C>T (p.(Ala70Val)) - PLIN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.224C>T r.(?) p.(Pro75Leu) Unknown - VUS g.90216467G>A - PLIN1(NM_001145311.1):c.224C>T (p.(Pro75Leu)) - PLIN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233G>A r.(?) p.(Arg78His) Unknown - VUS g.90216458C>T - PLIN1(NM_001145311.1):c.233G>A (p.(Arg78His)) - PLIN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.245C>T r.(?) p.(Thr82Ile) Unknown - likely benign g.90216446G>A g.89673215G>A PLIN1(NM_001145311.1):c.245C>T (p.(Thr82Ile)) - PLIN1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.245C>T r.(?) p.(Thr82Ile) Parent #1 - benign g.90216446G>A g.89673215G>A - - PLIN1_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs150004289 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.335_350del r.(?) p.(Ile112Argfs*103) Unknown - VUS g.90213460_90213475del - PLIN1(NM_002666.4):c.335_350delTTGCTTCTGAGCTGAA (p.I112Rfs*103) - PLIN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.358A>G r.(?) p.(Ile120Val) Unknown - VUS g.90213451T>C g.89670220T>C PLIN1(NM_002666.4):c.358A>G (p.I120V) - PLIN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365C>T r.(?) p.(Thr122Ile) Unknown - VUS g.90213444G>A - PLIN1(NM_001145311.1):c.365C>T (p.(Thr122Ile)) - PLIN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Cys) Unknown - VUS g.90213442G>A g.89670211G>A PLIN1(NM_001145311.1):c.367C>T (p.(Arg123Cys)) - PLIN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.380C>T r.(?) p.(Ala127Val) Unknown - VUS g.90213429G>A g.89670198G>A PLIN1(NM_001145311.1):c.380C>T (p.(Ala127Val)) - PLIN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408G>A r.(?) p.(Ala136=) Unknown - likely benign g.90213401C>T - PLIN1(NM_001145311.1):c.408G>A (p.(=)) - PLIN1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414T>G r.(?) p.(Thr138=) Unknown - likely benign g.90213395A>C g.89670164A>C PLIN1(NM_001145311.1):c.414T>G (p.(Thr138=)) - PLIN1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.445G>T r.(?) p.(Gly149Trp) Both (homozygous) ACMG VUS g.90213364C>A g.89670133C>A - - PLIN1_000030 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M315 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - 2 Johan den Dunnen
?/. - c.445G>T r.(?) p.(Gly149Trp) Unknown - VUS g.90213364C>A - PLIN1(NM_001145311.1):c.445G>T (p.(Gly149Trp)) - PLIN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.449G>A r.(?) p.(Cys150Tyr) Unknown - likely benign g.90213360C>T - PLIN1(NM_001145311.1):c.449G>A (p.(Cys150Tyr)) - PLIN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>T r.(?) p.(Val156Leu) Unknown - likely benign g.90213343C>A g.89670112C>A PLIN1(NM_001145311.1):c.466G>T (p.(Val156Leu)) - PLIN1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.466G>T r.(?) p.(Val156Leu) Parent #1 - likely benign g.90213343C>A g.89670112C>A - - PLIN1_000019 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs111663599 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.469G>A r.(?) p.(Ala157Thr) Unknown - VUS g.90213340C>T - PLIN1(NM_002666.4):c.469G>A (p.(Ala157Thr)) - PLIN1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.517G>A r.(?) p.(Ala173Thr) Unknown - likely pathogenic g.90213292C>T - PLIN1(NM_001145311.1):c.517G>A (p.(Ala173Thr)) - PLIN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.561G>A r.(?) p.(Val187=) Unknown - VUS g.90213248C>T - PLIN1(NM_001145311.1):c.561G>A (p.(=)) - PLIN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571C>A r.(?) p.(Leu191Ile) Unknown - likely benign g.90213238G>T - PLIN1(NM_001145311.1):c.571C>A (p.(Leu191Ile)) - PLIN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580C>A r.(?) p.(Pro194Thr) Unknown - likely benign g.90213229G>T - PLIN1(NM_001145311.1):c.580C>A (p.(Pro194Thr)) - PLIN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.580C>G r.(?) p.(Pro194Ala) Unknown - benign g.90213229G>C g.89669998G>C PLIN1(NM_002666.5):c.580C>G (p.P194A) - PLIN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.598+14G>A r.(=) p.(=) Unknown - likely benign g.90213197C>T - PLIN1(NM_001145311.1):c.598+14G>A (p.(=)) - PLIN1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.599-15C>A r.(=) p.(=) Unknown - likely benign g.90212918G>T - PLIN1(NM_001145311.1):c.599-15C>A (p.(=)) - PLIN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.644A>G r.(?) p.(Lys215Arg) Unknown - likely benign g.90212858T>C g.89669627T>C PLIN1(NM_001145311.1):c.644A>G (p.(Lys215Arg)) - PLIN1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.692G>T r.(?) p.(Arg231Leu) Unknown - likely benign g.90212810C>A g.89669579C>A PLIN1(NM_001145311.1):c.692G>T (p.(Arg231Leu)) - PLIN1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739G>A r.(?) p.(Val247Met) Unknown - likely benign g.90212763C>T - PLIN1(NM_001145311.1):c.739G>A (p.(Val247Met)) - PLIN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.772-9C>G r.(=) p.(=) Unknown - likely benign g.90211033G>C - PLIN1(NM_001145311.1):c.772-9C>G (p.(=)) - PLIN1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791G>A r.(?) p.(Gly264Asp) Unknown - VUS g.90211005C>T - PLIN1(NM_001145311.1):c.791G>A (p.(Gly264Asp)) - PLIN1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.812C>T r.(?) p.(Ala271Val) Unknown - likely benign g.90210984G>A - PLIN1(NM_001145311.1):c.812C>T (p.(Ala271Val)) - PLIN1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.814G>A r.(?) p.(Val272Met) Unknown - likely benign g.90210982C>T - PLIN1(NM_001145311.1):c.814G>A (p.(Val272Met)) - PLIN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.824G>A r.(?) p.(Arg275Gln) Unknown - likely benign g.90210972C>T g.89667741C>T PLIN1(NM_001145311.1):c.824G>A (p.(Arg275Gln)) - PLIN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831C>T r.(?) p.(Ser277=) Unknown - likely benign g.90210965G>A - PLIN1(NM_001145311.1):c.831C>T (p.(Ser277=)) - PLIN1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.839G>A r.(?) p.(Arg280Gln) Unknown - VUS g.90210957C>T - PLIN1(NM_001145311.1):c.839G>A (p.(Arg280Gln)) - PLIN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861C>T r.(?) p.(Leu287=) Unknown - likely benign g.90210935G>A - PLIN1(NM_001145311.1):c.861C>T (p.(Leu287=)) - PLIN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Ala290=) Unknown - likely benign g.90210926G>A - PLIN1(NM_001145311.1):c.870C>T (p.(=)) - PLIN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.877G>A r.(?) p.(Glu293Lys) Unknown - likely benign g.90210919C>T g.89667688C>T PLIN1(NM_001145311.1):c.877G>A (p.(Glu293Lys)) - PLIN1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.901A>G r.(?) p.(Thr301Ala) Unknown - VUS g.90210895T>C - PLIN1(NM_001145311.1):c.901A>G (p.(Thr301Ala)) - PLIN1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - VUS g.90210894G>A g.89667663G>A PLIN1(NM_001145311.1):c.902C>T (p.(Thr301Met)), PLIN1(NM_002666.4):c.902C>T (p.T301M) - PLIN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.902C>T r.(?) p.(Thr301Met) Unknown - likely benign g.90210894G>A g.89667663G>A PLIN1(NM_001145311.1):c.902C>T (p.(Thr301Met)), PLIN1(NM_002666.4):c.902C>T (p.T301M) - PLIN1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917C>T r.(?) p.(Thr306Met) Unknown - VUS g.90210879G>A g.89667648G>A PLIN1(NM_001145311.1):c.917C>T (p.(Thr306Met)) - PLIN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.961G>A r.(?) p.(Glu321Lys) Unknown - VUS g.90210835C>T - PLIN1(NM_002666.4):c.961G>A (p.(Glu321Lys)) - PLIN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.963+8G>A r.(=) p.(=) Unknown - likely benign g.90210825C>T g.89667594C>T PLIN1(NM_001145311.1):c.963+8G>A (p.(=)) - PLIN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975G>A r.(?) p.(Leu325=) Unknown - likely benign g.90210401C>T - PLIN1(NM_001145311.1):c.975G>A (p.(=)) - PLIN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981C>T r.(?) p.(=) Unknown - likely benign g.90210395G>A - PLIN1(NM_001145311.1):c.981C>T (p.(=)) - PLIN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.986G>A r.(?) p.(Arg329Gln) Unknown - likely benign g.90210390C>T - PLIN1(NM_001145311.1):c.986G>A (p.(Arg329Gln)) - PLIN1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990C>T r.(?) p.(Gly330=) Unknown - likely benign g.90210386G>A g.89667155G>A PLIN1(NM_001145311.1):c.990C>T (p.(Gly330=)), PLIN1(NM_002666.4):c.990C>T (p.G330=) - PLIN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990C>T r.(?) p.(Gly330=) Unknown - likely benign g.90210386G>A - PLIN1(NM_001145311.1):c.990C>T (p.(Gly330=)), PLIN1(NM_002666.4):c.990C>T (p.G330=) - PLIN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1001G>A r.(?) p.(Gly334Asp) Unknown - likely benign g.90210375C>T - PLIN1(NM_001145311.1):c.1001G>A (p.(Gly334Asp)) - PLIN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>T r.(?) p.(Ala336Val) Unknown - VUS g.90210369G>A - PLIN1(NM_001145311.1):c.1007C>T (p.(Ala336Val)) - PLIN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1027C>T r.(?) p.(Leu343Phe) Unknown - likely benign g.90210349G>A - PLIN1(NM_001145311.1):c.1027C>T (p.(Leu343Phe)) - PLIN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1043C>T r.(?) p.(Ser348Leu) Unknown - likely benign g.90210333G>A g.89667102G>A PLIN1(NM_001145311.1):c.1043C>T (p.(Ser348Leu)) - PLIN1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1060C>G r.(?) p.(Pro354Ala) Unknown - VUS g.90210316G>C - PLIN1(NM_001145311.1):c.1060C>G (p.(Pro354Ala)) - PLIN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1113T>C r.(?) p.(Pro371=) Unknown - benign g.90210263A>G g.89667032A>G PLIN1(NM_002666.5):c.1113T>C (p.P371=) - PLIN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1138G>A r.(?) p.(Ala380Thr) Unknown - VUS g.90210238C>T - PLIN1(NM_002666.4):c.1138G>A (p.(Ala380Thr)) - PLIN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1139C>T r.(?) p.(Ala380Val) Unknown - likely benign g.90210237G>A g.89667006G>A PLIN1(NM_001145311.1):c.1139C>T (p.(Ala380Val)) - PLIN1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1154A>G r.(?) p.(Asp385Gly) Unknown - VUS g.90210222T>C - PLIN1(NM_001145311.1):c.1154A>G (p.(Asp385Gly)) - PLIN1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1168G>A r.(?) p.(Val390Ile) Unknown - VUS g.90210208C>T - PLIN1(NM_001145311.1):c.1168G>A (p.(Val390Ile)) - PLIN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179C>T r.(?) p.(Asn393=) Unknown - likely benign g.90210197G>A g.89666966G>A PLIN1(NM_002666.5):c.1179C>T (p.N393=) - PLIN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1180G>A r.(?) p.(Val394Met) Unknown - VUS g.90210196C>T - PLIN1(NM_001145311.1):c.1180G>A (p.(Val394Met)) - PLIN1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1204G>A r.(?) p.(Val402Met) Unknown - likely benign g.90210172C>T g.89666941C>T PLIN1(NM_001145311.1):c.1204G>A (p.(Val402Met)), PLIN1(NM_002666.5):c.1204G>A (p.V402M) - PLIN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1204G>A r.(?) p.(Val402Met) Unknown - likely benign g.90210172C>T g.89666941C>T PLIN1(NM_001145311.1):c.1204G>A (p.(Val402Met)), PLIN1(NM_002666.5):c.1204G>A (p.V402M) - PLIN1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1205T>G r.(?) p.(Val402Gly) Unknown - VUS g.90210171A>C - PLIN1(NM_002666.4):c.1205T>G (p.(Val402Gly)) - PLIN1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209G>A r.(?) p.(Pro403=) Unknown - likely benign g.90210167C>T - PLIN1(NM_001145311.1):c.1209G>A (p.(Pro403=)) - PLIN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1209+9C>T r.(=) p.(=) Unknown - likely benign g.90210158G>A - PLIN1(NM_001145311.1):c.1209+9C>T (p.(=)) - PLIN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1210-13_1211del r.spl? p.? Unknown - likely pathogenic g.90209175_90209189del g.89665944_89665958del PLIN1(NM_001145311.1):c.1210-13_1211del (p.?) - PLIN1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1210-3C>T r.spl? p.? Unknown - VUS g.90209176G>A - PLIN1(NM_001145311.1):c.1210-3C>T (p.?) - PLIN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1248C>T r.(?) p.(Phe416=) Unknown - benign g.90209135G>A g.89665904G>A PLIN1(NM_001145311.1):c.1248C>T (p.(Phe416=)) - PLIN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259A>G r.(?) p.(Asp420Gly) Unknown - VUS g.90209124T>C - PLIN1(NM_001145311.1):c.1259A>G (p.(Asp420Gly)), PLIN1(NM_002666.5):c.1259A>G (p.D420G) - PLIN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259A>G r.(?) p.(Asp420Gly) Unknown - VUS g.90209124T>C - PLIN1(NM_001145311.1):c.1259A>G (p.(Asp420Gly)), PLIN1(NM_002666.5):c.1259A>G (p.D420G) - PLIN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1271C>T r.(?) p.(Ala424Val) Unknown - likely benign g.90209112G>A - PLIN1(NM_001145311.1):c.1271C>T (p.(Ala424Val)) - PLIN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1278C>T r.(?) p.(Val426=) Unknown - likely benign g.90209105G>A - PLIN1(NM_001145311.1):c.1278C>T (p.(Val426=)) - PLIN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1281G>C r.(?) p.(Glu427Asp) Unknown - likely benign g.90209102C>G - PLIN1(NM_001145311.1):c.1281G>C (p.(Glu427Asp)) - PLIN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284_1286dup r.(?) p.(Arg429dup) Unknown - likely benign g.90209099_90209101dup - PLIN1(NM_001145311.1):c.1284_1286dup (p.(Arg429dup)) - PLIN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1329G>A r.(?) p.(Pro443=) Unknown - likely benign g.90209054C>T - PLIN1(NM_001145311.1):c.1329G>A (p.(=)) - PLIN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1344T>C r.(?) p.(Arg448=) Unknown - VUS g.90209039A>G - PLIN1(NM_001145311.1):c.1344T>C (p.(=)) - PLIN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1358G>A r.(?) p.(Arg453His) Unknown - likely benign g.90209025C>T - PLIN1(NM_001145311.1):c.1358G>A (p.(Arg453His)) - PLIN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1369C>T r.(?) p.(Arg457Cys) Unknown - VUS g.90209014G>A - PLIN1(NM_001145311.1):c.1369C>T (p.(Arg457Cys)) - PLIN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1382G>A r.(?) p.(Ser461Asn) Unknown - likely benign g.90209001C>T - PLIN1(NM_002666.4):c.1382G>A (p.(Ser461Asn)) - PLIN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1383C>A r.(?) p.(Ser461Arg) Unknown - likely benign g.90209000G>T - PLIN1(NM_001145311.1):c.1383C>A (p.(Ser461Arg)) - PLIN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1385C>T r.(?) p.(Pro462Leu) Unknown - likely benign g.90208998G>A - PLIN1(NM_001145311.1):c.1385C>T (p.(Pro462Leu)) - PLIN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386C>T r.(?) p.(Pro462=) Unknown - likely benign g.90208997G>A - PLIN1(NM_001145311.1):c.1386C>T (p.(Pro462=)) - PLIN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1392G>T r.(?) p.(Ala464=) Unknown - likely benign g.90208991C>A g.89665760C>A PLIN1(NM_001145311.1):c.1392G>T (p.(Ala464=)) - PLIN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1393C>T r.(?) p.(Pro465Ser) Unknown - likely benign g.90208990G>A - PLIN1(NM_001145311.1):c.1393C>T (p.(Pro465Ser)), PLIN1(NM_002666.4):c.1393C>T (p.P465S) - PLIN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1393C>T r.(?) p.(Pro465Ser) Unknown - VUS g.90208990G>A - PLIN1(NM_001145311.1):c.1393C>T (p.(Pro465Ser)), PLIN1(NM_002666.4):c.1393C>T (p.P465S) - PLIN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1395C>A r.(?) p.(Pro465=) Unknown - likely benign g.90208988G>T - PLIN1(NM_001145311.1):c.1395C>A (p.(Pro465=)) - PLIN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1465C>T r.(?) p.(Arg489Cys) Unknown - VUS g.90208918G>A - PLIN1(NM_001145311.1):c.1465C>T (p.(Arg489Cys)) - PLIN1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1535G>A r.(?) p.(Arg512His) Unknown - VUS g.90208848C>T - PLIN1(NM_002666.4):c.1535G>A (p.(Arg512His)) - PLIN1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1556G>C r.(?) p.(Arg519Pro) Unknown - likely benign g.90208827C>G - PLIN1(NM_001145311.1):c.1556G>C (p.(Arg519Pro)) - PLIN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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