Full data view for gene PLOD3

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_001084.4 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

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.-658A>G r.(?) p.(=) - - Unknown - benign g.100861213T>C g.101217932T>C ZNHIT1(NM_006349.3):c.-264T>C - ZNHIT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.123G>A r.(?) p.(Val41=) - - Unknown - benign g.100860054C>T g.101216773C>T PLOD3(NM_001084.4):c.123G>A (p.V41=) - PLOD3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.201+7dup r.(=) p.(=) - - Unknown - likely benign g.100859969dup g.101216688dup PLOD3(NM_001084.4):c.201+7dupA (p.(=)) - PLOD3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215G>C r.(?) p.(Gly72Ala) - - Unknown - VUS g.100859814C>G - PLOD3(NM_001084.4):c.215G>C (p.G72A) - PLOD3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477G>A r.(?) p.(Thr159=) - - Unknown - likely benign g.100859469C>T - PLOD3(NM_001084.4):c.477G>A (p.T159=) - PLOD3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.484C>T r.(?) p.(Arg162Cys) - - Unknown - VUS g.100859462G>A - PLOD3(NM_001084.4):c.484C>T (p.R162C) - PLOD3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570C>T r.(?) p.(Asp190=) - - Unknown - benign g.100859234G>A g.101215953G>A PLOD3(NM_001084.4):c.570C>T (p.D190=) - PLOD3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.570C>T r.(=) p.(=) - - Parent #1 - benign g.100859234G>A g.101215953G>A - - PLOD3_000014 48 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35159414 Germline - 48/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 48 Mohammed Faruq
-/. - c.570C>T r.(=) p.(=) - - Both (homozygous) - benign g.100859234G>A g.101215953G>A - - PLOD3_000014 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35159414 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.571G>A r.(?) p.(Asp191Asn) - - Unknown - VUS g.100859233C>T g.101215952C>T PLOD3(NM_001084.4):c.571G>A (p.D191N) - PLOD3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.582C>G r.(?) p.(Phe194Leu) - - Unknown - VUS g.100859222G>C - PLOD3(NM_001084.4):c.582C>G (p.F194L) - PLOD3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616-17C>T r.(=) p.(=) - - Unknown - likely benign g.100858450G>A g.101215169G>A PLOD3(NM_001084.4):c.616-17C>T - PLOD3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616-14C>T r.(=) p.(=) - - Unknown - likely benign g.100858447G>A - PLOD3(NM_001084.4):c.616-14C>T - PLOD3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.668A>G r.(?) p.(Asn223Ser) - - Parent #1 - pathogenic g.100858381T>C g.101215100T>C - - PLOD3_000033 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434414 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.668A>G r.(?) p.(Asn223Ser) - - Maternal (confirmed) - pathogenic (recessive) g.100858381T>C g.101215100T>C - - PLOD3_000001 - PubMed: Salo 2008 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Salo 2008 2-generation family, 1 affected and stillborn (28w gestation) fetus, unaffected heterozygous carrier parents/relatives F no - Europe - 0 - - 1 Johan den Dunnen
?/. - c.670G>A r.(?) p.(Gly224Arg) - - Unknown - VUS g.100858379C>T g.101215098C>T - - PLOD3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.809C>T r.(?) p.(Pro270Leu) - - Both (homozygous) - pathogenic (recessive) g.100856193G>A g.101212912G>A - - PLOD3_000005 - PubMed: Ewans 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES EDS FamPats PubMed: Ewans 2019 5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents - yes Australia Lebanon - 0 - - 3 Johan den Dunnen
-?/. - c.812A>G r.(?) p.(Asn271Ser) - - Unknown - likely benign g.100856190T>C - PLOD3(NM_001084.4):c.812A>G (p.N271S) - PLOD3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.880-16G>A r.(=) p.(=) - - Unknown - benign g.100855952C>T g.101212671C>T PLOD3(NM_001084.4):c.880-16G>A - PLOD3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.887C>G r.(?) p.(Pro296Arg) - - Parent #1 - VUS g.100855929G>C g.101212648G>C - - PLOD3_000032 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143577626 Germline - 3/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
-/. - c.939C>T r.(?) p.(Arg313=) - - Unknown - benign g.100855877G>A g.101212596G>A PLOD3(NM_001084.4):c.939C>T (p.R313=) - PLOD3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.961C>T r.(?) p.(Leu321=) - - Unknown - likely benign g.100855855G>A - PLOD3(NM_001084.4):c.961C>T (p.L321=) - PLOD3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975C>T r.(?) p.(Pro325=) - - Unknown - likely benign g.100855841G>A g.101212560G>A PLOD3(NM_001084.4):c.975C>T (p.P325=) - PLOD3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.993C>T r.(?) p.(Phe331=) - - Unknown - benign g.100855823G>A g.101212542G>A PLOD3(NM_001084.4):c.993C>T (p.F331=) - PLOD3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128G>A r.(?) p.(Met376Ile) - - Unknown - likely benign g.100855231C>T - PLOD3(NM_001084.4):c.1128G>A (p.M376I) - PLOD3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1144G>C r.(?) p.(Asp382His) - - Unknown - benign g.100855215C>G g.101211934C>G PLOD3(NM_001084.4):c.1144G>C (p.D382H) - PLOD3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1144G>C r.(?) p.(Asp382His) - - Parent #1 - likely benign g.100855215C>G g.101211934C>G - - PLOD3_000010 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41281013 Germline - 7/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
-/. - c.1179C>T r.(?) p.(Ala393=) - - Unknown - benign g.100855180G>A g.101211899G>A PLOD3(NM_001084.4):c.1179C>T (p.A393=) - PLOD3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1232+8A>C r.(=) p.(=) - - Unknown - likely benign g.100855119T>G g.101211838T>G PLOD3(NM_001084.4):c.1232+8A>C (p.(=)) - PLOD3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1232+20C>T r.(=) p.(=) - - Unknown - benign g.100855107G>A g.101211826G>A PLOD3(NM_001084.4):c.1232+20C>T - PLOD3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1233-4G>A r.spl? p.? - - Unknown - benign g.100855001C>T g.101211720C>T PLOD3(NM_001084.4):c.1233-4G>A - PLOD3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1290C>T r.(?) p.(Gly430=) - - Unknown - likely benign g.100854940G>A - PLOD3(NM_001084.4):c.1290C>T (p.G430=) - PLOD3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1354C>T r.(?) p.(Arg452*) - - Both (homozygous) ACMG pathogenic (recessive) g.100854876G>A g.101211595G>A - - PLOD3_000004 ACMG PVS1, PM2, PP1 PubMed: Maddirevula 2019 - - Germline - - - 0 - DNA SEQ-NG - WES ? 17-4086 PubMed: Maddirevula 2019 - M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.1359-19G>A r.(=) p.(=) - - Unknown - likely benign g.100853973C>T g.101210692C>T PLOD3(NM_001084.4):c.1359-19G>A - PLOD3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1359-18C>T r.(=) p.(=) - - Unknown - likely benign g.100853972G>A g.101210691G>A PLOD3(NM_001084.4):c.1359-18C>T - PLOD3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1402C>G r.(?) p.(Arg468Gly) - - Unknown - benign g.100853911G>C g.101210630G>C PLOD3(NM_001084.4):c.1402C>G (p.R468G) - PLOD3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1466C>T r.(?) p.(Pro489Leu) - - Unknown - VUS g.100853847G>A g.101210566G>A PLOD3(NM_001084.4):c.1466C>T (p.P489L) - PLOD3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1500+6C>T r.(=) p.(=) - - Unknown - benign g.100853807G>A g.101210526G>A PLOD3(NM_001084.4):c.1500+6C>T - PLOD3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1512C>T r.(?) p.(Leu504=) - - Unknown - benign g.100853714G>A g.101210433G>A PLOD3(NM_001084.4):c.1512C>T (p.L504=) - PLOD3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1614C>T r.(?) p.(Val538=) - - Unknown - likely benign g.100853612G>A - PLOD3(NM_001084.4):c.1614C>T (p.V538=) - PLOD3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1684-13G>A r.(=) p.(=) - - Unknown - benign g.100852251C>T g.101208970C>T PLOD3(NM_001084.4):c.1684-13G>A - PLOD3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1789-8G>A r.(=) p.(=) - - Unknown - likely benign g.100851013C>T g.101207732C>T PLOD3(NM_001084.4):c.1789-8G>A - PLOD3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1797G>A r.(?) p.(Arg599=) - - Unknown - likely benign g.100850997C>T g.101207716C>T PLOD3(NM_001084.4):c.1797G>A (p.R599=) - PLOD3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1797G>A r.(?) p.(Arg599=) - - Unknown - likely benign g.100850997C>T - PLOD3(NM_001084.4):c.1797G>A (p.R599=) - PLOD3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1812C>T r.(?) p.(Tyr604=) - - Unknown - likely benign g.100850982G>A g.101207701G>A PLOD3(NM_001084.4):c.1812C>T (p.Y604=) - PLOD3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1880T>C r.(?) p.(.Leu627Pro) - - Both (homozygous) - pathogenic (recessive) g.100850914A>G g.101207633A>G - - PLOD3_000006 - PubMed: Vahidnezhad 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? patient PubMed: Vahidnezhad 2019 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Iran - - 0 - - 1 Johan den Dunnen
-/. - c.1886C>T r.(?) p.(Thr629Met) - - Unknown - benign g.100850908G>A g.101207627G>A PLOD3(NM_001084.4):c.1886C>T (p.T629M) - PLOD3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1935+1G>A r.spl p.? - - Both (homozygous) - pathogenic (recessive) g.100850858C>T g.101207577C>T - - PLOD3_000003 - Steichen-Gersdorf 2013 ESHG P01.076 - - Germline - - - 0 - DNA SEQ - - EDS patient Steichen-Gersdorf 2013 ESHG P01.076 2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents M no Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.1936-3C>T r.spl? p.? - - Unknown - likely benign g.100850188G>A - PLOD3(NM_001084.4):c.1936-3C>T - PLOD3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1966T>C r.(?) p.(Tyr656His) - - Unknown - likely benign g.100850155A>G - PLOD3(NM_001084.4):c.1966T>C (p.Y656H) - PLOD3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977C>T r.(?) p.(Asp659=) - - Unknown - benign g.100850144G>A g.101206863G>A PLOD3(NM_001084.4):c.1977C>T (p.D659=) - PLOD3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1986G>A r.(?) p.(Pro662=) - - Unknown - benign g.100850135C>T - PLOD3(NM_001084.4):c.1986G>A (p.P662=) - PLOD3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2013C>T r.(?) p.(Ser671=) - - Unknown - likely benign g.100850108G>A g.101206827G>A PLOD3(NM_001084.4):c.2013C>T (p.S671=) - PLOD3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2061+12T>C r.(=) p.(=) - - Unknown - benign g.100850048A>G g.101206767A>G PLOD3(NM_001084.4):c.2061+12T>C - PLOD3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2071del r.(?) p.(Cys691Alafs*9) - - Paternal (confirmed) - pathogenic (recessive) g.100849708del g.101206427del 2071delT - PLOD3_000002 - PubMed: Salo 2008 - - Germline - - - 0 - DNA SEQ - - ? patient PubMed: Salo 2008 2-generation family, 1 affected and stillborn (28w gestation) fetus, unaffected heterozygous carrier parents/relatives F no - Europe - 0 - - 1 Johan den Dunnen
?/. - c.2209G>A r.(?) p.(Asp737Asn) - - Unknown - VUS g.100849570C>T g.101206289C>T PLOD3(NM_001084.4):c.2209G>A (p.(Asp737Asn)) - PLOD3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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