Full data view for gene PLS3


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_005032.5 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
Legend   How to query  

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.-9+834A>G r.(=) p.(=) Maternal (inferred) - VUS g.114796421A>G g.115562094= - - PLS3_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.-9+834A>G r.(=) p.(=) Maternal (inferred) - likely benign g.114796421A>G g.115562094= - - PLS3_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.-9+1576del r.(=) p.(=) Unknown - likely benign g.114797163del g.115562836del - - PLS3_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - - - PLS3_000000 segregating missense variant Petit ASHG2018 P1260 - - Germline yes - - 1 - DNA SEQ, SEQ-NG - WES DIH ASHG2018-P1260-Fam1 Petit ASHG2018 P1260 3-generation family, 10 affected (10M) M - France - - - - - 10 Johan den Dunnen
+/. - c.? r.? p.? Maternal (confirmed) - pathogenic (dominant) g.? - - - PLS3_000000 - Petit ASHG2018 P1260 - - Germline yes - - 1 - DNA SEQ - - DIH ASHG2018-P1260-Fam2 Petit ASHG2018 P1260 family, 2 affected (2M) M - - - - - - - 2 Johan den Dunnen
+/. - c.? r.? p.? Maternal (confirmed) - pathogenic (dominant) g.? - - - PLS3_000000 - Petit ASHG2018 P1260 - - Germline yes - - 1 - DNA SEQ - - DIH ASHG2018-P1260-Fam3 Petit ASHG2018 P1260 family, 3 affected (3M) M - - - - - - - 3 Johan den Dunnen
+/+ 2i c.74-24T>A r.spl? p.? Maternal (confirmed) - pathogenic (dominant) g.114856534T>A - - - PLS3_000008 incorrectly reported by the authors as c.73-24T>A.; The intronic sequence variant creates a new splice acceptor site resulting in a frameshift. PubMed: Laine 2015 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - - osteoporosis - PubMed: Laine 2015 - - - - - - - - - 1 Raymond Dalgleish
?/. - c.154A>G r.(?) p.(Lys52Glu) Unknown - VUS g.114856638A>G - PLS3(NM_005032.7):c.154A>G (p.K52E) - PLS3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 03 c.235del r.(?) p.(Tyr79Ilefs*6) Maternal (confirmed) - pathogenic (dominant) g.114856719del - 235delT - PLS3_000002 - PubMed: van Dijk 2013 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis Family 1 PubMed: van Dijk 2013 A report of a boy from this family was subsequently reported by {PMID27477003:van de Laarschot and Zillikens, 2017} - - - - - - - - 1 Raymond Dalgleish
-/. - c.237+18C>A r.(=) p.(=) Unknown - benign g.114856739C>A - PLS3(NM_005032.7):c.237+18C>A - PLS3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.298A>G r.(?) p.(Lys100Glu) Unknown - likely pathogenic g.114863570A>G - PLS3(NM_005032.7):c.298A>G (p.K100E) - PLS3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321T>A r.(?) p.(Gly107=) Unknown - likely benign g.114863593T>A g.115629281T>A PLS3(NM_005032.7):c.321T>A (p.G107=) - PLS3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321T>A r.(?) p.(Gly107=) Parent #1 - likely benign g.114863593T>A g.115629281T>A G107G - PLS3_000031 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.359C>T r.(?) p.(Ser120Phe) Maternal (confirmed) - likely pathogenic (dominant) g.114863631C>T g.115629319C>T - - PLS3_000056 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam5PatII1 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
-/. - c.367+11T>C r.(=) p.(=) Unknown - benign g.114863650T>C g.115629338T>C PLS3(NM_005032.7):c.367+11T>C - PLS3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367+251C>T r.(=) p.(=) Unknown - likely benign g.114863890C>T - PLS3(NM_005032.7):c.367+251C>T - PLS3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.428G>C r.(?) p.(Cys143Ser) Unknown - VUS g.114864207G>C g.115629895G>C PLS3(NM_001282337.1):c.362G>C (p.C121S) - PLS3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(Phe157=) Unknown - likely benign g.114864250C>T - PLS3(NM_001282337.1):c.405C>T (p.F135=), PLS3(NM_005032.7):c.471C>T (p.F157=) - PLS3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471C>T r.(?) p.(Phe157=) Unknown - benign g.114864250C>T - PLS3(NM_001282337.1):c.405C>T (p.F135=), PLS3(NM_005032.7):c.471C>T (p.F157=) - PLS3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487G>A r.(?) p.(Gly163Arg) Unknown - VUS g.114864266G>A - - - PLS3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.565dup r.(?) p.(Thr189AsnfsTer48) Maternal (confirmed) - pathogenic g.114868376dup g.115634064dup - - PLS3_000069 ACMG PM1, PM2, PM5, PP2, PP3, PP5, PM6 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat127 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
-?/. - c.582+8T>G r.(=) p.(=) Unknown - likely benign g.114868401T>G - PLS3(NM_001282337.1):c.516+8T>G, PLS3(NM_005032.7):c.582+8T>G - PLS3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582+8T>G r.(=) p.(=) Unknown - likely benign g.114868401T>G - PLS3(NM_001282337.1):c.516+8T>G, PLS3(NM_005032.7):c.582+8T>G - PLS3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.617C>T r.(?) p.(Ala206Val) Unknown - likely pathogenic (dominant) g.114869227C>T g.115634915C>T - - PLS3_000057 - PubMed: Petit 2023, Journal: Petit 2023 - - De novo - - - - - DNA SEQ, SEQ-NG - - DIH Fam7PatII2 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States Hispanic - - - - 1 Johan den Dunnen
?/. - c.638A>T r.(?) p.(Asn213Ile) Unknown - VUS g.114869248A>T - PLS3(NM_005032.7):c.638A>T (p.N213I) - PLS3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.685G>A r.(?) p.(Gly229Arg) Maternal (confirmed) - pathogenic (dominant) g.114869295G>A - - - PLS3_000054 - PubMed: Brlek 2021 - - Germline - - - - - DNA SEQ-NG blood multi-gene panel OI Pat1 PubMed: Brlek 2021 - M no Croatia (Hrvatska) - >16y - - - 1 Kim Worring
+?/. - c.703A>G r.(?) p.(Ile235Val) Maternal (confirmed) - likely pathogenic (dominant) g.114869313A>G g.115635001A>G - - PLS3_000058 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam6PatII1 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
+?/. - c.703A>T r.(?) p.(Ile235Phe) Unknown - likely pathogenic g.114869313A>T - PLS3(NM_005032.7):c.703A>T (p.I235F) - PLS3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 07 c.745G>T r.(?) p.(Glu249*) Maternal (confirmed) - pathogenic (dominant) g.114869355G>T - - - PLS3_000014 - PubMed: Chen 2018 - - Germline - - - - - DNA SEQ - - OI IV-1 PubMed: Chen 2018 - - - China - - - - - 1 Raymond Dalgleish
+/+ 7i c.748+1G>A r.spl p.? Maternal (inferred) - pathogenic (dominant) g.114869359G>A - - - PLS3_000003 - PubMed: van Dijk 2013 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis Family 3 PubMed: van Dijk 2013 - - - - - - - - - 1 Raymond Dalgleish
./. - c.749-21del r.(=) p.(=) Unknown - VUS g.114871127del g.115636815del - - PLS3_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.749-19T>C r.(=) p.(=) Unknown - likely benign g.114871129T>C - PLS3(NM_005032.7):c.749-19T>C - PLS3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-8del r.(=) p.(=) Unknown - benign g.114871140del g.115636828del PLS3(NM_005032.7):c.749-20delT - PLS3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-8dup r.(=) p.(=) Unknown - benign g.114871140dup g.115636828dup PLS3(NM_005032.7):c.749-20dupT - PLS3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-7C>T r.(=) p.(=) Unknown - benign g.114871141C>T g.115636829C>T PLS3(NM_001136025.3):c.749-7C>T (p.(=)) - PLS3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.749-4C>T r.spl? p.? Unknown - likely benign g.114871144C>T g.115636832C>T PLS3(NM_001136025.3):c.749-4C>T (p.?) - PLS3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 08 c.759_760insAAT r.(?) p.(Ala253_Leu254insAsn) Maternal (inferred) - pathogenic (dominant) g.114871158_114871159insAAT - - - PLS3_000004 - PubMed: van Dijk 2013 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis Family 4 PubMed: van Dijk 2013 - - - - - - - - - 1 Raymond Dalgleish
+/. - c.766C>T r.(?) p.(Arg256Ter) Unknown - pathogenic g.114871165C>T g.115636853C>T PLS3(NM_005032.7):c.766C>T (p.R256*) - PLS3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767G>A r.(?) p.(Arg256Gln) Unknown - likely benign g.114871166G>A g.115636854G>A PLS3(NM_001136025.3):c.767G>A (p.(Arg256Gln)), PLS3(NM_001282337.1):c.701G>A (p.R234Q) - PLS3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.767G>A r.(?) p.(Arg256Gln) Unknown - likely benign g.114871166G>A - PLS3(NM_001136025.3):c.767G>A (p.(Arg256Gln)), PLS3(NM_001282337.1):c.701G>A (p.R234Q) - PLS3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII1 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII2 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII4 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (inferred) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIII10 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV3 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV4 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV12 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV15 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV16 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatIV34 PubMed: Petit 2023, Journal: Petit 2023 relative F - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatV2 PubMed: Petit 2023, Journal: Petit 2023 relative M - France - - - - - 1 Johan den Dunnen
+?/. - c.808G>A r.(?) p.(Glu270Lys) Maternal (confirmed) - likely pathogenic (dominant) g.114871207G>A g.115636895G>A - - PLS3_000059 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam1PatV6 PubMed: Petit 2023, Journal: Petit 2023 relative (fetus) M - France - - - - - 1 Johan den Dunnen
-?/. - c.859C>A r.(?) p.(Gln287Lys) Unknown - likely benign g.114871258C>A - PLS3(NM_005032.5):c.859C>A (p.(Gln287Lys)) - PLS3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8i c.892-1G>A r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.114874719G>A - - - PLS3_000013 - PubMed: Cao 2019 - - Germline - - - - - DNA SEQ - - OI P4 PubMed: Cao 2019 The authors were contacted for further clarification of the OI type but they were unable to give a specific OI type. - - China - - - - - 1 Raymond Dalgleish
-?/. - c.925A>G r.(?) p.(Ile309Val) Unknown - likely benign g.114874753A>G g.115640441A>G PLS3(NM_001136025.3):c.925A>G (p.(Ile309Val)), PLS3(NM_001282337.1):c.886A>G (p.I296V) - PLS3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.925A>G r.(?) p.(Ile309Val) Unknown - likely benign g.114874753A>G g.115640441A>G PLS3(NM_001136025.3):c.925A>G (p.(Ile309Val)), PLS3(NM_001282337.1):c.886A>G (p.I296V) - PLS3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 9i_16_ c.987+942_*4105del r.? p.? Maternal (inferred) - pathogenic (dominant) g.114875757_114887986del g.115641445_115653674del NC_000023.11:g.115641445_115653674del - PLS3_000010 - PubMed: Lv 2017 - - Germline - - - - - DNA PCR, SEQ, arraySEQ - - osteoporosis - PubMed: Lv 2017 The patient is male and his mother is presumed to be a carrier for the deletion. She has osteopaenia, but no bone fractures. - - China Han - - - - 1 Raymond Dalgleish
+/+ 10 c.994_995del r.(?) p.(Asp332*) Maternal (confirmed) - pathogenic (dominant) g.114877631_114877632del - - - PLS3_000006 - PubMed: Fahiminiya 2014 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis P1 PubMed: Fahiminiya 2014 patient has a younger brother who harbours the same PLS3 variant - - - - - - - - 1 Raymond Dalgleish
-?/. - c.1050A>G r.(?) p.(Arg350=) Unknown - likely benign g.114877687A>G - PLS3(NM_005032.7):c.1050A>G (p.R350=) - PLS3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1054T>C r.(?) p.(Phe352Leu) Maternal (confirmed) - likely pathogenic (dominant) g.114877691T>C g.115643379T>C - - PLS3_000060 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam8PatII5 PubMed: Petit 2023, Journal: Petit 2023 son (half-brother) M - United States white - - - - 1 Johan den Dunnen
?/. - c.1074_1076del r.(?) p.(Val359del) Unknown - VUS g.114877711_114877713del g.115643399_115643401del PLS3(NM_001282337.1):c.1035_1037delTGT (p.V346del) - PLS3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089C>T r.(?) p.(Pro363=) Unknown - likely benign g.114877726C>T g.115643414C>T PLS3(NM_001282337.1):c.1050C>T (p.P350=) - PLS3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1090A>G r.(?) p.(Lys364Glu) Maternal (confirmed) - likely pathogenic (dominant) g.114877727A>G g.115643415A>G - - PLS3_000061 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam4PatIII3 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - 1 Johan den Dunnen
+/+ 10 c.1097_1101del r.(?) p.(Asn366Serfs*5) Unknown - pathogenic (dominant) g.114877734_114877738del - - - PLS3_000011 - PubMed: Constantini 2018 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis - PubMed: Constantini 2018 The proband's mother does not harbour the variant. - - Greece - - - - - 1 Raymond Dalgleish
+/+ 10 c.1103C>A r.(?) p.(Ala368Asp) Maternal (confirmed) - pathogenic (dominant) g.114877740C>A - - - PLS3_000009 - PubMed: Nishi 2016 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG - - osteoporosis Patient 2 PubMed: Nishi 2016 Patient 3 is the brother of patient 2. - - Finland - - - - - 1 Raymond Dalgleish
+/. 10 c.1106_1107insGAAA r.(?) p.(Phe369Leufs*5) Maternal (confirmed) - pathogenic (dominant) g.114877743_114877744insGAAA g.115643431_115643432insGAAA - - PLS3_000053 - PubMed: Hu 2020 - - Germline - - - - - DNA SEQ-NG blood WES OI Pat1 PubMed: Hu 2020 - M ? China - >12y - - - 2 Kim Worring
+/. 10 c.1106_1107insGAAA r.(?) p.(Phe369Leufs*5) Unknown - pathogenic (dominant) g.114877743_114877744insGAAA g.115643431_115643432insGAAA - - PLS3_000053 - PubMed: Hu 2020 - - Germline - - - - - DNA SEQ blood - OI Pat2 PubMed: Hu 2020 - M ? China - >06y - - - 1 Kim Worring
-/. - c.1242T>C r.(?) p.(Pro414=) Unknown - benign g.114879399T>C g.115645079T>C PLS3(NM_005032.7):c.1242T>C (p.P414=) - PLS3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242T>C r.(=) p.(Pro414=) Parent #1 - likely benign g.114879399T>C g.115645079T>C P414P - PLS3_000036 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
?/. - c.1246G>A r.(?) p.(Val416Ile) Unknown - VUS g.114879403G>A g.115645083G>A PLS3(NM_001136025.3):c.1246G>A (p.(Val416Ile)) - PLS3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1262+1G>A r.spl? p.? Unknown - likely pathogenic g.114879420G>A g.115645100G>A PLS3(NM_005032.7):c.1262+1G>A - PLS3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1262+1G>A r.spl? p.? Unknown - pathogenic g.114879420G>A g.115645100G>A PLS3(NM_005032.7):c.1262+1G>A - PLS3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275T>C r.(?) p.(=) Unknown - likely benign g.114880404T>C - PLS3(NM_005032.7):c.1275T>C (p.D425=) - PLS3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1294T>C r.(?) p.(Leu432=) Unknown - benign g.114880423T>C g.115646103T>C PLS3(NM_005032.7):c.1294T>C (p.L432=) - PLS3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1294T>C r.(=) p.(Leu432=) Parent #1 - likely benign g.114880423T>C g.115646103T>C L432L - PLS3_000037 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 7 Lucy Raymond
+?/. - c.1303C>T r.(?) p.(Arg435*) Unknown - likely pathogenic g.114880432C>T - - - PLS3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1377+1G>A r.spl? p.? Unknown - likely pathogenic g.114880507G>A - PLS3(NM_005032.7):c.1377+1G>A - PLS3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1377+17C>T r.(=) p.(=) Unknown - benign g.114880523C>T g.115646203C>T PLS3(NM_005032.7):c.1377+17C>T - PLS3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1378-5T>C r.spl? p.? Unknown - likely benign g.114880717T>C - - - PLS3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1384A>G r.(?) p.(Asn462Asp) Unknown - VUS g.114880728A>G - PLS3(NM_005032.7):c.1384A>G (p.N462D) - PLS3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.1433T>C r.(?) p.(Leu478Pro) Maternal (inferred) - pathogenic (dominant) g.114880777T>C - - - PLS3_000007 - PubMed: Fahiminiya 2014 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis P3 (Family 2) PubMed: Fahiminiya 2014 The patient's dizygotic twin brother also harbours the same variant. - - - - - - - - 1 Raymond Dalgleish
+/+ 14 c.1471C>T r.(?) p.(Gln491*) Maternal (confirmed) - pathogenic (dominant) g.114880815C>T - - - PLS3_000001 - PubMed: van Dijk 2013 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis Family 2 PubMed: van Dijk 2013 - - - - - - - - - 1 Raymond Dalgleish
-?/. - c.1476C>G r.(=) p.(Thr492=) Parent #1 - likely benign g.114880820C>G g.115646500C>G T492T - PLS3_000040 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+?/. - c.1497G>C r.(?) p.(Trp499Cys) Unknown - likely pathogenic (dominant) g.114880841G>C g.115646521G>C - - PLS3_000062 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - DIH Fam2PatI2 PubMed: Petit 2023, Journal: Petit 2023 2-generation family, affected mother/2 sons F - United States - - - - - 3 Johan den Dunnen
+?/. - c.1497G>C r.(?) p.(Trp499Cys) Maternal (confirmed) - likely pathogenic (dominant) g.114880841G>C g.115646521G>C - - PLS3_000062 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam2PatII1 PubMed: Petit 2023, Journal: Petit 2023 son M - United States - - - - - 1 Johan den Dunnen
+?/. - c.1497G>C r.(?) p.(Trp499Cys) Maternal (confirmed) - likely pathogenic (dominant) g.114880841G>C g.115646521G>C - - PLS3_000062 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam2PatII2 PubMed: Petit 2023, Journal: Petit 2023 son M - United States - - - - - 1 Johan den Dunnen
-?/. - c.1545T>C r.(=) p.(Asp515=) Parent #1 - likely benign g.114881903T>C g.115647583T>C D515D - PLS3_000041 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1545T>C r.(?) p.(Asp515=) Unknown - likely benign g.114881903T>C - PLS3(NM_001282337.1):c.1506T>C (p.D502=) - PLS3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1643C>T r.(?) p.(Thr548Met) Unknown - VUS g.114882220C>T - PLS3(NM_001282337.1):c.1604C>T (p.T535M) - PLS3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1647del r.(?) p.(Ser550AlafsTer9) Unknown - pathogenic g.114882224del g.115647904del PLS3(NM_005032.7):c.1647delC (p.S550Afs*9) - PLS3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 15 c.1647del r.(?) p.(Ser550Alafs*9) Maternal (inferred) - pathogenic (dominant) g.114882224del - 1647delC - PLS3_000005 - PubMed: van Dijk 2013 - - Germline - - - - - DNA PCR, SEQ - - osteoporosis Family 5 PubMed: van Dijk 2013 - - - - - - - - - 1 Raymond Dalgleish
+?/. - c.1774A>G r.(?) p.(Met592Val) Maternal (confirmed) - likely pathogenic (dominant) g.114883762A>G g.115649442A>G - - PLS3_000063 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam3PatIII3 PubMed: Petit 2023, Journal: Petit 2023 4-generation family, 6 affected (3F, 3M) M - United States - - - - - 6 Johan den Dunnen
+?/. - c.1774A>G r.(?) p.(Met592Val) Maternal (confirmed) - likely pathogenic (dominant) g.114883762A>G g.115649442A>G - - PLS3_000063 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam3PatIV1 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - 1 Johan den Dunnen
+?/. - c.1774A>G r.(?) p.(Met592Val) Maternal (confirmed) - likely pathogenic (dominant) g.114883762A>G g.115649442A>G - - PLS3_000063 - PubMed: Petit 2023, Journal: Petit 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - DIH Fam3PatIV2 PubMed: Petit 2023, Journal: Petit 2023 relative M - United States - - - - - 1 Johan den Dunnen
?/. - c.1802A>G r.(?) p.(Tyr601Cys) Unknown - VUS g.114883790A>G g.115649470A>G PLS3(NM_001282337.2):c.1763A>G (p.Y588C) - PLS3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1888G>C r.(?) p.(Val630Leu) Unknown - likely benign g.114883876G>C g.115649556G>C PLS3(NM_001282337.1):c.1849G>C (p.V617L) - PLS3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.