Full data view for gene PLOD2


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_182943.2 transcript reference sequence.

91 entries on 1 page. Showing entries 1 - 91.
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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.201+100C>T r.(=) p.(=) Unknown - likely benign g.145841825G>A - PLOD2(NM_182943.3):c.201+100C>T - PLOD2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205C>T r.(?) p.(Leu69Phe) Unknown - VUS g.145839032G>A - PLOD2(NM_182943.2):c.205C>T (p.L69F) - PLOD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247A>G r.(?) p.(Ser83Gly) Unknown - likely benign g.145838990T>C - PLOD2(NM_000935.2):c.247A>G (p.(Ser83Gly)) - PLOD2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306T>A r.(?) p.(Asp102Glu) Unknown - likely benign g.145838931A>T g.146121144A>T PLOD2(NM_000935.2):c.306T>A (p.(Asp102Glu)), PLOD2(NM_182943.2):c.306T>A (p.D102E) - PLOD2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306T>A r.(?) p.(Asp102Glu) Unknown - likely benign g.145838931A>T g.146121144A>T PLOD2(NM_000935.2):c.306T>A (p.(Asp102Glu)), PLOD2(NM_182943.2):c.306T>A (p.D102E) - PLOD2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335A>G r.(?) p.(Glu112Gly) Unknown - VUS g.145838902T>C - PLOD2(NM_182943.3):c.335A>G (p.(Glu112Gly)) - PLOD2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.338+4G>A r.spl? p.? Unknown - benign g.145838895C>T g.146121108C>T PLOD2(NM_182943.3):c.338+4G>A - PLOD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.338+4G>A r.spl? p.? Unknown - benign g.145838895C>T g.146121108C>T PLOD2(NM_182943.3):c.338+4G>A - PLOD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382A>G r.(?) p.(Lys128Glu) Parent #1 - VUS g.145828192T>C g.146110405T>C - - PLOD2_000036 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200569129 Germline - 9/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.382A>G r.(?) p.(Lys128Glu) Unknown - VUS g.145828192T>C - PLOD2(NM_000935.2):c.382A>G (p.(Lys128Glu)) - PLOD2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.392_411del r.(?) p.(Lys131IlefsTer11) Unknown - likely pathogenic g.145828163_145828182del - - - PLOD2_000069 - - - rs753848468 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>A r.(?) p.(Pro155His) Unknown - VUS g.145828110G>T - PLOD2(NM_182943.3):c.464C>A (p.(Pro155His)) - PLOD2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475A>T r.(?) p.(Ile159Phe) Unknown - likely benign g.145828099T>A g.146110312T>A PLOD2(NM_182943.2):c.475A>T (p.I159F) - PLOD2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.497C>G r.(?) p.(Ser166*) Unknown ACMG pathogenic (recessive) g.145828077G>C g.146110290G>C - - PLOD2_000017 ACMG PVS1, PM2, PM3 - - - Germline ? - - - - DNA SEQ-NG-I DNA from from fetus mortus - ? 163927 - - ? ? Finland - 00y - - - 1 Andreas Laner
+/. - c.497C>G r.(?) p.(Ser166*) Paternal (confirmed) ACMG likely pathogenic (recessive) g.145828077G>C g.146110290G>C - - PLOD2_000017 - PubMed: Leal 2018 - - Germline yes - - - - DNA SEQ - - OI Fam1Pat2 PubMed: Leal 2018 - F no Italy;Sweden;Finland - <0d - - - 1 Johan den Dunnen
+/. - c.497C>G r.(?) p.(Ser166*) Paternal (confirmed) ACMG likely pathogenic (recessive) g.145828077G>C g.146110290G>C - - PLOD2_000017 - PubMed: Leal 2018 - - Germline yes - - - - DNA SEQ - - OI Fam1Pat1 PubMed: Leal 2018 family, 2 fetuses M no Italy;Sweden;Finland - <0d - - - 2 Johan den Dunnen
+/. - c.503-2A>G r.spl p.? Paternal (confirmed) - pathogenic (recessive) g.145824433T>C g.146106646T>C - - PLOD2_000011 - PubMed: Lv 2018 - - Germline - - - - - DNA SEQ - - OI Fam1Pat1 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. 4i c.503-2A>G r.spl p.? Parent #1 - pathogenic (recessive) g.145824433T>C g.146106646T>C - - PLOD2_000011 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam32 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+?/. - c.517G>C r.(?) p.(Ala173Pro) Both (homozygous) - likely pathogenic (recessive) g.145824417C>G g.146106630C>G - - PLOD2_000043 - PubMed: Santana 2019 - - Germline - - - - - DNA SEQ - - OI Case2 PubMed: Santana 2019 - F - United States - - - - - 1 Johan den Dunnen
?/. - c.587C>T r.(?) p.(Thr196Ile) Unknown - VUS g.145824347G>A - PLOD2(NM_182943.3):c.587C>T (p.(Thr196Ile), p.T196I) - PLOD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.587C>T r.(?) p.(Thr196Ile) Unknown - likely benign g.145824347G>A - PLOD2(NM_182943.3):c.587C>T (p.(Thr196Ile), p.T196I) - PLOD2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.615+5G>T r.(?) p.(?) Unknown - likely pathogenic g.145824314C>A - - - PLOD2_000068 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.615+221T>C r.(=) p.(=) Unknown - likely benign g.145824098A>G - PLOD2(NM_182943.3):c.615+221T>C - PLOD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.652A>G r.(?) p.(Ile218Val) Unknown - benign g.145822093T>C g.146104306T>C PLOD2(NM_000935.2):c.652A>G (p.(Ile218Val)), PLOD2(NM_182943.3):c.652A>G (p.I218V) - PLOD2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.652A>G r.(?) p.(Ile218Val) Unknown - likely benign g.145822093T>C g.146104306T>C PLOD2(NM_000935.2):c.652A>G (p.(Ile218Val)), PLOD2(NM_182943.3):c.652A>G (p.I218V) - PLOD2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.797G>T r.(?) p.(Gly266Val) Paternal (confirmed) - likely pathogenic (recessive) g.145809669C>A g.146091882C>A - - PLOD2_000041 - PubMed: Mumm 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - OI Pat PubMed: Mumm 2020 - F - United States England;Ireland;Germany - - - - 1 Johan den Dunnen
+?/. - c.797G>T r.(?) p.(Gly266Val) Both (homozygous) ACMG likely pathogenic (recessive) g.145809669C>A g.146091882C>A - - PLOD2_000041 - Arora 2018 (Genetic Clinics 11:6-10) - - Germline - - - - - DNA SEQ - - OI Pat Arora 2018 (Genetic Clinics 11:6-10) - M - India - - - - - 1 Johan den Dunnen
?/. - c.803A>C r.(?) p.(Tyr268Ser) Unknown ACMG VUS g.145809663T>G g.146091876T>G - - PLOD2_000038 ACMG PM2, PM3, PP3 - - - Germline ? - - - - DNA SEQ-NG-I DNA from from fetus mortus - ? 163927 - - ? ? Finland - 00y - - - 1 Andreas Laner
-?/. - c.805G>A r.(?) p.(Val269Ile) Unknown - likely benign g.145809661C>T - PLOD2(NM_000935.2):c.805G>A (p.(Val269Ile)) - PLOD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.808C>T r.(?) p.(Pro270Ser) Unknown - VUS g.145809658G>A - PLOD2(NM_182943.3):c.808C>T (p.(Pro270Ser)) - PLOD2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.880-286T>C r.(=) p.(=) Unknown - likely benign g.145806784A>G - PLOD2(NM_182943.3):c.880-286T>C - PLOD2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.892G>A r.(?) p.(Val298Ile) Unknown - VUS g.145806486C>T - PLOD2(NM_182943.3):c.892G>A (p.(Val298Ile)) - PLOD2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.918A>G r.(?) p.(=) Unknown - likely benign g.145806460T>C - PLOD2(NM_182943.3):c.918A>G (p.(Gln306=)) - PLOD2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1005+10del r.(=) p.(=) Unknown - likely benign g.145806365del - PLOD2(NM_182943.3):c.1005+10delT - PLOD2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1006-9_1006-8del r.(=) p.(=) Unknown - likely benign g.145804705_145804706del - PLOD2(NM_182943.3):c.1006-9_1006-8del - PLOD2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1076T>G r.(?) p.(Ile359Arg) Unknown - VUS g.145804625A>C g.146086838A>C PLOD2(NM_182943.3):c.1076T>G (p.I359R) - PLOD2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108G>A r.(?) p.(Glu370Lys) Unknown - likely benign g.145804593C>T - PLOD2(NM_000935.2):c.1108G>A (p.(Glu370Lys)) - PLOD2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1128-82A>T r.(=) p.(=) Unknown - benign g.145803142T>A g.146085355T>A PLOD2(NM_182943.3):c.1128-82A>T - PLOD2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1128-78A>G r.(=) p.(=) Unknown - benign g.145803138T>C g.146085351T>C PLOD2(NM_182943.3):c.1128-78A>G - PLOD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128G>A r.(?) p.(Met376Ile) Unknown - likely benign g.145803060C>T - PLOD2(NM_000935.2):c.1128G>A (p.(Met376Ile)) - PLOD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1138C>T r.(?) p.(Arg380Cys) Maternal (confirmed) - pathogenic (recessive) g.145803050G>A g.146085263G>A - - PLOD2_000012 - PubMed: Lv 2018 - - Germline - - - - - DNA SEQ - - OI Fam1Pat1 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. - c.1138C>T r.(?) p.(Arg380Cys) Paternal (confirmed) - pathogenic (recessive) g.145803050G>A g.146085263G>A - - PLOD2_000012 - PubMed: Lv 2018 - - Germline - - - - - DNA SEQ - - OI Fam3Pat3 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. 11 c.1138C>T r.(?) p.(Arg380Cys) Parent #2 - pathogenic (recessive) g.145803050G>A g.146085263G>A - - PLOD2_000012 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam32 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/. - c.1153T>C r.(?) p.(Cys385Arg) Maternal (confirmed) - pathogenic (recessive) g.145803035A>G g.146085248A>G - - PLOD2_000013 - PubMed: Lv 2018 - - Germline - - - - - DNA SEQ - - OI Fam2Pat2 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
?/. - c.1259G>A r.(?) p.(Arg420His) Unknown ACMG VUS g.145799624C>T g.146081837C>T - - PLOD2_000074 ACMG PM1, PM2, BP4; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat69 PubMed: Horbacz 2025 patient, affected father F - Poland - - - - - 1 Johan den Dunnen
+?/. - c.1280A>G r.(?) p.(Asn427Ser) Maternal (confirmed) - likely pathogenic (recessive) g.145799603T>C g.146081816T>C - - PLOD2_000042 - PubMed: Mumm 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - - OI Pat PubMed: Mumm 2020 - F - United States England;Ireland;Germany - - - - 1 Johan den Dunnen
+/. - c.1358+5G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.145799520C>T g.146081733C>T - - PLOD2_000005 effect on splicing confirmed in mini-gene splicing assay PubMed: Puig-Hervas 2012 - - Germline - - - - - DNA SEQ - - OI Fam7Case7 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, first cousin parents M yes Spain - - - - - 1 Johan den Dunnen
+/. - c.1358+5G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.145799520C>T g.146081733C>T - - PLOD2_000005 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA SEQ - - OI Fam91 PubMed: Caparros-Martin 2016 - - yes Egypt - - - - - 1 Johan den Dunnen
?/. - c.1418G>A r.(?) p.(Arg473Gln) Unknown - VUS g.145796985C>T - PLOD2(NM_000935.2):c.1418G>A (p.(Arg473Gln)) - PLOD2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1418G>A r.(?) p.(Arg473Gln) Unknown - VUS (!) g.145796985C>T g.146079198C>T - - PLOD2_000050 candidate disease gene PubMed: Furey 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES HYC Hydro229-1 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
-/. - c.1500+12A>G r.(=) p.(=) Unknown - benign g.145796891T>C g.146079104T>C PLOD2(NM_182943.3):c.1500+12A>G - PLOD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1500+12A>G r.(=) p.(=) Unknown - benign g.145796891T>C g.146079104T>C PLOD2(NM_182943.3):c.1500+12A>G - PLOD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1523C>T r.(?) p.(Ser508Phe) Unknown - VUS g.145795689G>A - PLOD2(NM_182943.3):c.1523C>T (p.(Ser508Phe)) - PLOD2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1559dup r.(?) p.(Val523Cysfs*7) Both (homozygous) - pathogenic (recessive) g.145795658dup g.146077871dup 1559dupC - PLOD2_000004 - PubMed: Puig-Hervas 2012 - - Germline - - - - - DNA SEQ - - OI Fam5Case5 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, second cousin parents M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.1559dup r.(?) p.(Val523Cysfs*7) Both (homozygous) - pathogenic (recessive) g.145795658dup g.146077871dup 1559dupC - PLOD2_000004 - PubMed: Puig-Hervas 2012 - - Germline - - - - - DNA SEQ - - OI Fam6Case6 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, first cousin parents M yes Egypt - - - - - 1 Johan den Dunnen
-?/. - c.1564-19G>A r.(=) p.(=) Unknown - likely benign g.145794701C>T g.146076914C>T PLOD2(NM_182943.3):c.1564-19G>A - PLOD2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1624del r.(?) p.(Tyr542Thrfs*25) Paternal (confirmed) - pathogenic (recessive) g.145794623del g.146076836del 1624delT - PLOD2_000008 - PubMed: Zhou 2014 - - Germline - - - - - DNA SEQ - - OI Fam2Pat2 PubMed: Zhou 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
-?/. - c.1639T>C r.(?) p.(Tyr547His) Unknown - likely benign g.145794607A>G - PLOD2(NM_182943.3):c.1639T>C (p.(Tyr547His)) - PLOD2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1644C>T r.(?) p.(Asn548=) Unknown - likely benign g.145794602G>A - PLOD2(NM_182943.2):c.1644C>T (p.N548=) - PLOD2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1678-12T>C r.(=) p.(=) Unknown - likely benign g.145791151A>G g.146073364A>G PLOD2(NM_182943.3):c.1678-12T>C - PLOD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1682G>A r.(?) p.(Trp561*) Both (homozygous) ACMG likely pathogenic (recessive) g.145791135C>T g.146073348C>T - - PLOD2_000018 - PubMed: Leal 2018 - - Germline - - - - - DNA SEQ - - OI Fam2Pat2 PubMed: Leal 2018 - M no Brazil - 3m - - - 1 Johan den Dunnen
-?/. - c.1744-20C>T r.(=) p.(=) Unknown - likely benign g.145790472G>A - PLOD2(NM_182943.3):c.1744-20C>T - PLOD2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1754A>T r.(?) p.(Asp585Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.145790442T>A g.146072655T>A - - PLOD2_000016 - PubMed: Leal 2018 - - Germline yes - - - - DNA SEQ - - OI Fam1Pat1 PubMed: Leal 2018 family, 2 fetuses M no Italy;Sweden;Finland - <0d - - - 2 Johan den Dunnen
+/. - c.1754A>T r.(?) p.(Asp585Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.145790442T>A g.146072655T>A - - PLOD2_000016 - PubMed: Leal 2018 - - Germline yes - - - - DNA SEQ - - OI Fam1Pat2 PubMed: Leal 2018 - F no Italy;Sweden;Finland - <0d - - - 1 Johan den Dunnen
+/. - c.1764G>T r.(?) p.(Trp588Cys) Both (homozygous) ACMG VUS g.145790432C>A g.146072645C>A - - PLOD2_000040 - PubMed: Leal 2018 - - Germline - - - - - DNA SEQ - - OI Fam4Pat4 PubMed: Leal 2018 - M yes Palestine - - - - - 1 Johan den Dunnen
?/. - c.1772T>A r.(?) p.(Ile591Lys) Unknown - VUS g.145790424A>T g.146072637A>T PLOD2(NM_182943.2):c.1772T>A (p.I591K) - PLOD2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1828T>C r.(?) p.(Trp610Arg) Both (homozygous) - pathogenic (recessive) g.145790368A>G g.146072581A>G - - PLOD2_000010 - PubMed: Caparros-Martin 2016 - - Germline yes - - - - DNA SEQ - - OI Fam1020 PubMed: Caparros-Martin 2016 - - yes Egypt - - - - - 2 Johan den Dunnen
-?/. - c.1848+143C>T r.(=) p.(=) Unknown - likely benign g.145790205G>A - PLOD2(NM_182943.3):c.1848+143C>T - PLOD2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1856G>A r.(?) p.(Arg619His) Both (homozygous) - pathogenic (recessive) g.145789203C>T g.146071416C>T - - PLOD2_000001 - PubMed: Ha-Vinh 2004 - - Germline - - - - - DNA SEQ - - BRKS FamPatII1 PubMed: Ha-Vinh 2004 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+/. - c.1856G>A r.(?) p.(Arg619His) Both (homozygous) - pathogenic (recessive) g.145789203C>T g.146071416C>T - - PLOD2_000001 - PubMed: Puig-Hervas 2012 - - Germline - - - - - DNA SEQ - - OI Fam3Case3 PubMed: Puig-Hervas 2012 2-generation family, 1 affected, second cousin parents M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.1856G>A r.(?) p.(Arg619His) Both (homozygous) - pathogenic (recessive) g.145789203C>T g.146071416C>T - - PLOD2_000001 - PubMed: Puig-Hervas 2012 - - Germline yes - - - - DNA SEQ - - OI Fam4Case4 PubMed: Puig-Hervas 2012 2-generation family, 2 affected sisters, first cousin parents F yes Egypt - - - - - 2 Johan den Dunnen
+/+ 17 c.1856G>A r.? p.(Arg619His) Both (homozygous) - pathogenic (recessive) g.145789203C>T - - - PLOD2_000001 - PubMed: Li 2019, Journal: Li 2019 - - Germline - - - - - DNA PCR, SEQ - - BRKS - PubMed: Li 2019, Journal: Li 2019 - - - China - - - - - 1 Xiuli Zhao
+/. - c.1864G>T r.(?) p.(Gly622Cys) Paternal (confirmed) - pathogenic (recessive) g.145789195C>A g.146071408C>A - - PLOD2_000006 - PubMed: Puig-Hervas 2012 - - Germline yes - - - - DNA SEQ - - OI Fam8Case8-II2 PubMed: Puig-Hervas 2012 2-generation family, 2 affected brothers M no Spain - - - - - 2 Johan den Dunnen
+/. - c.1864G>T r.(?) p.(Gly622Cys) Paternal (confirmed) - pathogenic (recessive) g.145789195C>A g.146071408C>A - - PLOD2_000006 - PubMed: Puig-Hervas 2012 - - Germline yes - - - - DNA SEQ - - OI Fam8Case9-II3 PubMed: Puig-Hervas 2012 brother II3 M no Spain - - - - - 1 Johan den Dunnen
+/. - c.1865G>T r.(?) p.(Gly622Val) Both (homozygous) - pathogenic (recessive) g.145789194C>A g.146071407C>A - - PLOD2_000003 - PubMed: van der Slot 2003 - - Germline yes - - - - DNA SEQ - - BRKS FamPMPatII1/2, Pat7/8 PubMed: van der Slot 2003, PubMed: Breslau-Siderius 1998 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives; previously reported by Breslau-Siderius (individuals 7 and 8 Table 2) F;M yes Kuwait Kurdish - - - - 1 Johan den Dunnen
+/. - c.1880T>C r.(?) p.(Val627Ala) Maternal (confirmed) - pathogenic (recessive) g.145789179A>G g.146071392A>G - - PLOD2_000009 - PubMed: Zhou 2014 - - Germline - - - - - DNA SEQ - - OI Fam2Pat2 PubMed: Zhou 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. - c.1886C>T r.(?) p.(Thr629Ile) Both (homozygous) - pathogenic (recessive) g.145789173G>A g.146071386G>A - - PLOD2_000002 - PubMed: van der Slot 2003 - - Germline yes - - - - DNA SEQ - - BRKS FamDRPatII1/2/4 Pat1/2/3 PubMed: van der Slot 2003, PubMed: Breslau-Siderius 1998 2-generation family, 2 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives; previously described by Breslau-Siderius 1998 (individuals 1, 2 and 3 Table 2) F;M no Australia - - - - - 3 Johan den Dunnen
?/. - c.1942C>T r.(?) p.(Arg648Trp) Unknown - VUS g.145789117G>A - PLOD2(NM_182943.3):c.1942C>T (p.(Arg648Trp)) - PLOD2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1982G>A r.(?) p.(Gly661Asp) Paternal (confirmed) - pathogenic (recessive) g.145789077C>T g.146071290C>T - - PLOD2_000014 - PubMed: Lv 2018 - - Germline - - - - - DNA SEQ - - OI Fam2Pat2 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+?/. - c.1991C>T r.(?) p.(Thr664Met) Unknown - VUS (!) g.145789068G>A g.146071281G>A Thr643Met - PLOD2_000052 candidate disease gene PubMed: Furey 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES HYC Hydro451-1 PubMed: Furey 2018 2-generation family, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
?/. - c.1995+3A>C r.spl? p.? Unknown - VUS g.145789061T>G - PLOD2(NM_182943.3):c.1995+3A>C - PLOD2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2038C>T r.(?) p.(Arg680*) Maternal (confirmed) - pathogenic (recessive) g.145788912G>A g.146071125G>A - - PLOD2_000015 - PubMed: Lv 2018 - - Germline - - - - - DNA SEQ - - OI Fam3Pat3 PubMed: Ly 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - 1 Johan den Dunnen
+/. - c.2060A>G r.(?) p.(His687Arg) Both (homozygous) ACMG VUS g.145788890T>C g.146071103T>C - - PLOD2_000019 - PubMed: Leal 2018 - - Germline yes - - - - DNA SEQ - - OI Fam3Pat3 PubMed: Leal 2018 family, 2 affected F yes Afghanistan - - - - - 2 Johan den Dunnen
+/. - c.2060A>G r.(?) p.(His687Arg) Both (homozygous) ACMG VUS g.145788890T>C g.146071103T>C - - PLOD2_000019 - PubMed: Leal 2018 - - Germline yes - - - - DNA SEQ - - OI Fam3Pat4 PubMed: Leal 2018 - F yes Afghanistan - - - - - 1 Johan den Dunnen
-?/. - c.2121+14T>C r.(=) p.(=) Unknown - likely benign g.145788815A>G g.146071028A>G PLOD2(NM_182943.3):c.2121+14T>C - PLOD2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2122-4T>A r.spl? p.? Unknown - VUS g.145788663A>T - PLOD2(NM_182943.2):c.2122-4T>A - PLOD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2122-2A>G r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.145788661T>C g.146070874T>C - - PLOD2_000007 - PubMed: Puig-Hervas 2012 - - Germline yes - - - - DNA SEQ - - OI Fam8Case8-II2 PubMed: Puig-Hervas 2012 2-generation family, 2 affected brothers M no Spain - - - - - 2 Johan den Dunnen
+/. - c.2122-2A>G r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.145788661T>C g.146070874T>C - - PLOD2_000007 - PubMed: Puig-Hervas 2012 - - Germline yes - - - - DNA SEQ - - OI Fam8Case9-II3 PubMed: Puig-Hervas 2012 brother II3 M no Spain - - - - - 1 Johan den Dunnen
-?/. - c.2184C>G r.(?) p.(Ser728Arg) Unknown - likely benign g.145788597G>C - PLOD2(NM_182943.2):c.2184C>G (p.(Ser728Arg)) - PLOD2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2229T>C r.(?) p.(Pro743=) Unknown - benign g.145788552A>G g.146070765A>G PLOD2(NM_182943.3):c.2229T>C (p.P743=) - PLOD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2273C>G r.(?) p.(Pro758Arg) Unknown - VUS g.145788508G>C - PLOD2(NM_182943.3):c.2273C>G (p.(Pro758Arg)) - PLOD2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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