Unique variants in the PLOD1 gene

Ehlers Danlos Syndrome Variant Database


Information The variants shown are described using the NM_000302.3 transcript reference sequence.

158 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     

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     

Owner     
+/. 1 - c.-2794836_*665135del r.0? p.0? - - - likely pathogenic g.9200001_12700000del g.9100001_12500000del CGH array deletion in Cr1p36.22 involving NMNAT1 gene, - MTHFR_000084 am apparent homozygous NMNAT1 mutation was found, probably on the other allele PubMed: Ruberto 2020 - - Unknown ? - - - - LOVD
+?/+? 1 10i c.(1097+1_1098-1)_(1328+1_1329-1)del r.(?) p.(Asp367_Val443del) deletion deletion - likely pathogenic g.? - - - PLOD1_000045 - - - - Unknown - - - - - Anne Legrand
+?/+? 1 13i c.(1470+1_1471-1)_(1650+1_1651-1)del r.(?) p.(Asp491_Thr550del) deletion deletion - likely pathogenic g.? - - - PLOD1_000046 - - - - Unknown - - - - - Anne Legrand
+/+ 1 17 c.[1760_1761delinsGA; 1775_1788del; 1790C>G] r.(?) p.[(Asn587Arg);Gly592Alafs*4;(Pro597Arg)] frameshift other/complex - pathogenic g.[12030731_12030732delinsGA;12030746_12030759del;12030761C>G] - - - PLOD1_000023 - PubMed: Heikkinen et al., 1997 - - Unknown - - +Hgal, -Bsll - - Raymond Dalgleish
+?/., ?/. 2 - c.2T>C r.(?), r.? p.0?, p.? - - - likely pathogenic, likely pathogenic (recessive) g.11994838T>C g.11934781T>C - - PLOD1_000100 - - - - Germline - - - - - Li Ma, Sha Hong
-/. 1 - c.76+17C>T r.(=) p.(=) - - - benign g.11994929C>T g.11934872C>T PLOD1(NM_000302.3):c.76+17C>T - PLOD1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.76+264A>G r.(=) p.(=) - - - likely benign g.11995176A>G g.11935119A>G PLOD1(NM_000302.3):c.76+264A>G - PLOD1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.77-3473C>T r.(=) p.(=) - - - likely benign g.12004560C>T g.11944503C>T PLOD1(NM_001316320.2):c.77-19C>T - PLOD1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.77-3383C>T r.(=) p.(=) - - - likely benign g.12004650C>T - PLOD1(NM_001316320.1):c.148C>T (p.L50=) - PLOD1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.77-3370G>A r.(=) p.(=) - - - likely benign g.12004663G>A g.11944606G>A PLOD1(NM_000302.3):c.77-3370G>A - PLOD1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.77-3358C>T r.(=) p.(=) - - - likely benign g.12004675C>T g.11944618C>T PLOD1(NM_000302.3):c.77-3358C>T, PLOD1(NM_001316320.2):c.173C>T (p.S58F) - PLOD1_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 3 - c.77-7T>C r.(=) p.(=) - - - likely benign g.12008026T>C g.11947969T>C PLOD1(NM_000302.3):c.77-7T>C, PLOD1(NM_001316320.2):c.218-7T>C - PLOD1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 1 - c.109G>A r.(?) p.(Glu37Lys) - - - VUS g.12008065G>A g.11948008G>A PLOD1(NM_000302.3):c.109G>A (p.E37K) - PLOD1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.128G>A r.(?) p.(Arg43His) - - - VUS g.12008084G>A g.11948027G>A PLOD1(NM_001316320.1):c.269G>A (p.R90H) - PLOD1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.135G>A r.(?) p.(Lys45=) - - - likely benign g.12008091G>A g.11948034G>A PLOD1(NM_000302.3):c.135G>A (p.K45=) - PLOD1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.136C>T r.(?) p.(Arg46Cys) - - - VUS g.12008092C>T g.11948035C>T PLOD1(NM_000302.3):c.136C>T (p.R46C) - PLOD1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.137G>A r.(?) p.(Arg46His) - - - likely benign, VUS g.12008093G>A g.11948036G>A PLOD1(NM_000302.3):c.137G>A (p.R46H), PLOD1(NM_000302.4):c.137G>A (p.R46H) - PLOD1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+ 1 2 c.145C>T r.(?) p.(Gln49*) nonsense substitution - pathogenic g.12008101C>T - - - PLOD1_000020 - PubMed: Yeowell et al., 2000 - - Unknown - - -BspCNI - - Raymond Dalgleish
+/+ 1 2 c.153_154insC r.(?) p.(Asn52Glnfs*52) frameshift insertion - pathogenic g.12008109_12008110insC - - - PLOD1_000011 - PubMed: Heikkinen et al., 1999 - - Unknown - - +Mmel - - Raymond Dalgleish
-?/. 1 - c.168+6G>C r.(=) p.(=) - - - likely benign g.12008130G>C - PLOD1(NM_000302.3):c.168+6G>C - PLOD1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.169-310A>G r.(=) p.(=) - - - likely benign g.12009520A>G g.11949463A>G PLOD1(NM_000302.3):c.169-310A>G - PLOD1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.177C>T r.(?) p.(Gly59=) - - - benign g.12009838C>T g.11949781C>T PLOD1(NM_000302.3):c.177C>T (p.G59=) - PLOD1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.243G>A r.(?) p.(Leu81=) - - - likely benign g.12009904G>A g.11949847G>A PLOD1(NM_000302.3):c.243G>A (p.L81=) - PLOD1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+, +?/. 3 3 c.244A>T r.(?) p.(Lys82*), p.(Lys82Ter) nonsense substitution - likely pathogenic, pathogenic g.12009905A>T g.11949848A>T PLOD1(NM_000302.3):c.244A>T (p.K82*) - PLOD1_000052 VKGL data sharing initiative Nederland PubMed: Micha et al., 2019, PubMed: van Dijk et al., 2017 - - CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_Rotterdam
-/., -?/. 4 - c.250G>A r.(?) p.(Ala84Thr) - - - benign, likely benign g.12009911G>A g.11949854G>A PLOD1(NM_000302.3):c.250G>A (p.(Ala84Thr), p.A84T) - PLOD1_000121 1 homozygous; Clinindb (India), 90 heterozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs34878020 CLASSIFICATION record, Germline - 1/2794 individuals, 90/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_VUmc, Mohammed Faruq
+/+ 1 3 c.254T>C r.(?) p.(Leu85Pro) missense substitution - pathogenic g.12009915T>C - - - PLOD1_000035 - PubMed: Rohrbach et al., 2011 - - Unknown - - +MspI, -BpmI - - Raymond Dalgleish
-?/. 1 - c.276G>A r.(?) p.(Glu92=) - - - likely benign g.12009937G>A g.11949880G>A PLOD1(NM_000302.3):c.276G>A (p.E92=) - PLOD1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/-, -/. 3 3 c.294C>T r.(?) p.(=), p.(Phe98=) silent substitution - benign, likely benign g.12009955C>T g.11949898C>T PLOD1(NM_000302.3):c.294C>T (p.F98=) - PLOD1_000028 VKGL data sharing initiative Nederland PubMed: Huang et al., 2009 - rs7529452 CLASSIFICATION record, Unknown - - +HpyCH4V - - Raymond Dalgleish, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+?/-, -/-, -/. 4 3 c.295G>A r.(?) p.(Ala99Thr) missense substitution - benign, likely benign, VUS g.12009956G>A g.11949899G>A PLOD1(NM_000302.3):c.295G>A (p.A99T) - PLOD1_000022 VKGL data sharing initiative Nederland PubMed: Tasker et al., 2005, PubMed: Tasker et al., 2006 - rs7551175 CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.302+15G>A r.(=) p.(=) - - - likely benign g.12009978G>A g.11949921G>A PLOD1(NM_000302.3):c.302+15G>A - PLOD1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.302+79C>T r.(=) p.(=) - - - likely benign g.12010042C>T - PLOD1(NM_000302.3):c.302+79C>T - PLOD1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 4 - c.303C>T r.(?) p.(Ser101=) - - - likely benign g.12010414C>T g.11950357C>T 1 more item - PLOD1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/-, -/. 4 4 c.358G>T r.(?) p.(Ala120Ser) missense substitution - benign, likely benign g.12010469G>T g.11950412G>T PLOD1(NM_000302.3):c.358G>T (p.A120S), PLOD1(NM_000302.3):c.358_359delGCinsTC (p.A120S) - PLOD1_000030 VKGL data sharing initiative Nederland - - rs2273285 CLASSIFICATION record, Unknown - - +Hpy188I - - Raymond Dalgleish, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.376T>G r.(?) p.(Phe126Val) - - - VUS g.12010487T>G g.11950430T>G - - PLOD1_000092 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144702307 Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. 2 - c.411G>A r.(?) p.(Arg137=) - - - likely benign g.12010522G>A g.11950465G>A PLOD1(NM_000302.3):c.411G>A (p.R137=), PLOD1(NM_001316320.1):c.552G>A (p.R184=) - PLOD1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.412C>G r.(?) p.(Leu138Val) - - - VUS g.12010523C>G - PLOD1(NM_000302.4):c.412C>G (p.L138V) - PLOD1_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 4 c.426T>A r.(?) p.(Tyr142*) nonsense substitution - pathogenic g.12010537T>A - - - PLOD1_000017 - PubMed: Yeowell et al., 2000 - - Unknown - - +AgeI, -BciVI - - Raymond Dalgleish
+/+ 1 4i c.466+1G>A r.? - splicing affected? substitution - pathogenic g.12010578G>A - - - PLOD1_000036 - PubMed: Rohrbach et al., 2011 - - Unknown - - -MnlI, -HphI - - Raymond Dalgleish
+?/+?, ?/. 2 4i c.467-2A>G r.?, r.spl? -, p.? splicing affected? substitution - likely pathogenic, VUS g.12012678A>G g.11952621A>G PLOD1(NM_000302.3):c.467-2A>G - PLOD1_000050 VKGL data sharing initiative Nederland PubMed: Micha et al., 2019 - - CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_Rotterdam
+/+ 1 4i c.467-2del r.? - splicing affected? deletion - pathogenic g.12012678del - - - PLOD1_000010 - PubMed: Heikkinen et al., 1999 - - Unknown - - +BslI, -Acul - - Raymond Dalgleish
-?/. 2 - c.508G>A r.(?) p.(Glu170Lys) - - - likely benign g.12012721G>A g.11952664G>A PLOD1(NM_001316320.1):c.649G>A (p.E217K) - PLOD1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.509A>T r.(?) p.(Glu170Val) - - - likely benign g.12012722A>T g.11952665A>T PLOD1(NM_000302.3):c.509A>T (p.(Glu170Val), p.E170V) - PLOD1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/., ?/. 2 - c.535G>T r.(?) p.(Asp179Tyr) - - - likely benign, VUS g.12012748G>T g.11952691G>T PLOD1(NM_000302.3):c.535G>T (p.(Asp179Tyr)) - PLOD1_000093 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs188165334 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
-/. 1 - c.540G>A r.(?) p.(Gln180=) - - - benign g.12012753G>A g.11952696G>A PLOD1(NM_000302.3):c.540G>A (p.Q180=) - PLOD1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.555G>T r.(?) p.(Lys185Asn) - - - likely benign g.12012768G>T g.11952711G>T PLOD1(NM_001316320.1):c.696G>T (p.K232N) - PLOD1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.557T>C r.(?) p.(Ile186Thr) - - - VUS g.12012770T>C g.11952713T>C PLOD1(NM_001316320.1):c.698T>C (p.I233T) - PLOD1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.567_572del r.(?) p.(Asp189_Pro190del) - - - VUS g.12012780_12012785del g.11952723_11952728del PLOD1(NM_000302.3):c.567_572delCCCGGA (p.D189_P190del) - PLOD1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5i c.579+1G>A r.? - splicing affected? substitution - pathogenic g.12012793G>A - - - PLOD1_000024 - PubMed: Yeowell and Walker, 1997 - - Unknown - - - - - Raymond Dalgleish
-?/. 1 - c.579+17G>A r.(=) p.(=) - - - likely benign g.12012809G>A g.11952752G>A PLOD1(NM_000302.3):c.579+17G>A - PLOD1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 6 c.622C>T r.(?) p.(Gln208*) nonsense substitution - pathogenic g.12014929C>T - - - PLOD1_000043 - PubMed: Abdalla et al., 2015 - - Unknown - - - - - Raymond Dalgleish
-/-, -/. 3 6i c.644-17T>G r.(=), r.(?) p.(=) silent substitution - benign, likely benign g.12016957T>G g.11956900T>G PLOD1(NM_000302.3):c.644-17T>G - PLOD1_000025 VKGL data sharing initiative Nederland PubMed: Spotila et al., 2003 - rs41307745 CLASSIFICATION record, Unknown - - -HpyCH4III - - Raymond Dalgleish, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.652G>A r.(?) p.(Val218Met) - - - VUS g.12016982G>A - PLOD1(NM_001316320.1):c.793G>A (p.V265M) - PLOD1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.680G>A r.(?) p.(Arg227Lys) - - - VUS g.12017010G>A g.11956953G>A PLOD1(NM_000302.3):c.680G>A (p.R227K) - PLOD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., -/- 2 7 c.741G>A r.(?), r.? -, p.(Lys247=) silent substitution - likely benign, likely pathogenic g.12017071G>A g.11957014G>A PLOD1(NM_000302.3):c.741G>A (p.K247=) - PLOD1_000053 VKGL data sharing initiative Nederland PubMed: van Dijk et al., 2017 - - CLASSIFICATION record, Unknown - - - - - Raymond Dalgleish, VKGL-NL_VUmc
-?/. 1 - c.741+261C>T r.(=) p.(=) - - - likely benign g.12017332C>T - PLOD1(NM_000302.3):c.741+261C>T - PLOD1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.742-9C>G r.(=) p.(=) - - - likely benign g.12017890C>G g.11957833C>G PLOD1(NM_000302.3):c.742-9C>G - PLOD1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.802A>G r.(?) p.(Thr268Ala) - - - likely benign g.12017959A>G g.11957902A>G PLOD1(NM_000302.3):c.802A>G (p.(Thr268Ala), p.T268A) - PLOD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 2 - c.804C>T r.(?) p.(Thr268=) - - - likely benign g.12017961C>T g.11957904C>T PLOD1(NM_000302.3):c.804C>T (p.T268=) - PLOD1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.805G>A r.(?) p.(Val269Met) - - - VUS g.12017962G>A g.11957905G>A PLOD1(NM_000302.3):c.805G>A (p.V269M) - PLOD1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.843+17G>C r.(=) p.(=) - - - likely benign g.12018017G>C g.11957960G>C PLOD1(NM_000302.3):c.843+17G>C - PLOD1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.844-16G>A r.(=) p.(=) - - - likely benign g.12018557G>A g.11958500G>A PLOD1(NM_000302.3):c.844-16G>A - PLOD1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.856C>T r.(?) p.(Pro286Ser) - - - VUS g.12018585C>T g.11958528C>T PLOD1(NM_000302.3):c.856C>T (p.P286S) - PLOD1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.870C>T r.(?) p.(Val290=) - - - likely benign g.12018599C>T g.11958542C>T PLOD1(NM_000302.3):c.870C>T (p.V290=) - PLOD1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 9 c.926_934del r.(?) p.(Leu309_Leu311del) deletion deletion - pathogenic g.12018655_12018663del - - - PLOD1_000048 - PubMed: Shin et al., 2020 - - Unknown - - - - - Raymond Dalgleish
?/. 1 - c.952A>G r.(?) p.(Met318Val) - - - VUS g.12018681A>G g.11958624A>G - - PLOD1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 7 9 c.955C>T r.(?) p.(Arg319*) nonsense substitution - pathogenic g.12018684C>T - - - PLOD1_000001 - PubMed: Giunta et al., 2005a, PubMed: Giunta et al., 2005b, PubMed: Hyland et al., 1992 - - Unknown - - +AflIII - - Raymond Dalgleish
-?/. 1 - c.963C>T r.(?) p.(Phe321=) - - - likely benign g.12018692C>T g.11958635C>T - - PLOD1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 9i c.975+2_975+3insTT r.(?) p.(Asp282_His325del) deletion, exon insertion - pathogenic g.12018706_12018707insTT - - - PLOD1_000018 - PubMed: Pajunen at al., 1998 - - Unknown - - -BbrPI, -PmlI - - Raymond Dalgleish
-?/. 1 - c.975+13C>T r.(=) p.(=) - - - likely benign g.12018717C>T g.11958660C>T PLOD1(NM_000302.3):c.975+13C>T - PLOD1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+, +?/+? 23 9i c.975+975_1755+?dup r.(?) p.(Glu326_Lys585dup) duplication duplication - likely pathogenic, pathogenic g.12019679_12027148dup - - - PLOD1_000003 - PubMed: Abdalla et al., 2015, PubMed: Brinckmann et al., 1998, PubMed: Giunta et al., 2005b, 7 more items - - Unknown - - +Eael, +SexAI - - Raymond Dalgleish
+?/+? 1 9i c.976-16C>T r.? - splicing affected? substitution - likely pathogenic g.12020687C>T - - - PLOD1_000054 - PubMed: Sakai et al., 2011 - - Unknown - - - - - Raymond Dalgleish
+/. 1 - c.977del r.(?) p.(Glu326GlyfsTer22) - - - pathogenic g.12020704del g.11960647del PLOD1(NM_000302.3):c.977delA (p.E326Gfs*22) - PLOD1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 2 10 c.979C>T r.(?) p.(Gln327*) nonsense substitution - pathogenic g.12020706C>T - - - PLOD1_000015 - PubMed: Yeowell et al., 2000 - - Unknown - - -Fnu4HI, -ApeKI - - Raymond Dalgleish
?/. 1 - c.1026C>T r.(?) p.(Ser342=) - - - VUS g.12020753C>T g.11960696C>T PLOD1(NM_000302.3):c.1026C>T (p.S342=) - PLOD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 10 c.1033C>T r.(?) p.(Gln345*) nonsense substitution - pathogenic g.12020760C>T - - - PLOD1_000037 - PubMed: Rohrbach et al., 2011 - - Unknown - - +ScaI, -BsrI - - Raymond Dalgleish
-?/. 2 - c.1071G>A r.(?) p.(Ala357=) - - - likely benign g.12020798G>A g.11960741G>A PLOD1(NM_000302.3):c.1071G>A (p.A357=), PLOD1(NM_001316320.1):c.1212G>A (p.A404=) - PLOD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+/+ 2 10 c.1095C>T r.? - splicing affected? substitution - pathogenic g.12020822C>T - - - PLOD1_000021 - PubMed: Rohrbach et al., 2011, PubMed: Yeowell et al., 2000 - - Unknown - - -BstUI, -HinP1I - - Raymond Dalgleish
?/. 1 - c.1097C>T r.(?) p.(Ala366Val) - - - VUS g.12020824C>T g.11960767C>T - - PLOD1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1097+10G>A r.(=) p.(=) - - - likely benign g.12020834G>A g.11960777G>A PLOD1(NM_000302.3):c.1097+10G>A, PLOD1(NM_001316320.2):c.1238+10G>A - PLOD1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/- 1 10i c.1098-8C>T r.? - splicing affected? substitution - likely benign g.12023581C>T - - - PLOD1_000055 - PubMed: Sakai et al., 2011 - - Unknown - - - - - Raymond Dalgleish
+?/+? 1 10i c.1098-?_1328+?del r.(?) p.(Asp367_Val443del) deletion, multi exon deletion - likely pathogenic g.12023589_12024357del - - - PLOD1_000051 - PubMed: Micha et al., 2019 - - Unknown - - - - - Raymond Dalgleish
+/+ 2 11 c.1103_1117del r.(?) p.(Asp368_Gln372del) deletion deletion - pathogenic g.12023594_12023608del - - - PLOD1_000019 - PubMed: Yeowell et al., 2000 - - Unknown - - +Mwol, -NaeI - - Raymond Dalgleish
+/+ 1 11 c.1120_1756-1553del r.(?) p.(Asp367Profs*34) frameshift deletion - pathogenic g.12023611_12029174del - - - PLOD1_000041 - PubMed: Giunta et al., 2009 - - Unknown - - +BstUI, -EaeI - - Raymond Dalgleish
-?/. 1 - c.1140C>T r.(?) p.(Ser380=) - - - likely benign g.12023631C>T - PLOD1(NM_001316320.1):c.1281C>T (p.S427=) - PLOD1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1141G>A r.(?) p.(Val381Met) - - - benign, likely benign g.12023632G>A g.11963575G>A PLOD1(NM_000302.3):c.1141G>A (p.(Val381Met), p.V381M) - PLOD1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 2 - c.1152C>T r.(?) p.(Asp384=) - - - likely benign g.12023643C>T g.11963586C>T PLOD1(NM_000302.3):c.1152C>T (p.D384=), PLOD1(NM_001316320.1):c.1293C>T (p.D431=) - PLOD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 2 - c.1164C>T r.(?) p.(Thr388=) - - - likely benign g.12023655C>T g.11963598C>T PLOD1(NM_000302.3):c.1164C>T (p.T388=), PLOD1(NM_001316320.1):c.1305C>T (p.T435=) - PLOD1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.1165G>A r.(?) p.(Glu389Lys) - - - likely benign g.12023656G>A g.11963599G>A PLOD1(NM_000302.3):c.1165G>A (p.E389K) - PLOD1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1182G>C r.(?) p.(Arg394=) - - - likely benign g.12023673G>C g.11963616G>C PLOD1(NM_001316320.2):c.1323G>C (p.R441=) - PLOD1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1193A>C r.(?) p.(Gln398Pro) - - - likely benign g.12023684A>C - PLOD1(NM_000302.3):c.1193A>C (p.(Gln398Pro)) - PLOD1_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1202+14G>A r.(=) p.(=) - - - likely benign g.12023707G>A g.11963650G>A PLOD1(NM_000302.3):c.1202+14G>A, PLOD1(NM_001316320.2):c.1343+14G>A - PLOD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
-/-, -/. 3 12 c.1206C>T r.(?) p.(=), p.(Asn402=) silent substitution - benign, likely benign g.12024235C>T g.11964178C>T PLOD1(NM_000302.3):c.1206C>T (p.N402=) - PLOD1_000026 VKGL data sharing initiative Nederland PubMed: Spotila et al., 2003 - rs1130529 CLASSIFICATION record, Unknown - - -HpyCH4IV - - Raymond Dalgleish, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.1255T>C r.(?) p.(Trp419Arg) - - - pathogenic (recessive) g.12024284T>C g.11964227T>C - - PLOD1_000179 - PubMed: Colman 2021, Journal: Colman 2021 - - Germline - - - - - Johan den Dunnen
+/+ 1 12 c.1263dup r.(?) p.(Leu422Serfs*44) frameshift insertion - pathogenic g.12024292dup - - - PLOD1_000038 - PubMed: Rohrbach et al., 2011 - - Unknown - - -MwoI, -BanII - - Raymond Dalgleish
+/+ 2 12 c.1302C>G r.(?) p.(Tyr434*) nonsense substitution - pathogenic g.12024331C>G - - - PLOD1_000002 - PubMed: Giunta et al., 2009, PubMed: Kariminejad et al., 2010. Iran J Pediatr 20(3):358-362 - - Unknown - - +BfaI - - Raymond Dalgleish
?/. 1 - c.1325G>A r.(?) p.(Arg442His) - - - VUS g.12024354G>A g.11964297G>A - - PLOD1_000094 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199567720 Germline - 28/2535 individuals - - - Mohammed Faruq
?/. 1 - c.1327G>A r.(?) p.(Val443Ile) - - - VUS g.12024356G>A g.11964299G>A - - PLOD1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1328+13A>G r.(=) p.(=) - - - likely benign g.12024370A>G - PLOD1(NM_000302.3):c.1328+13A>G - PLOD1_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1328+17T>G r.(=) p.(=) - - - benign g.12024374T>G g.11964317T>G PLOD1(NM_000302.3):c.1328+17T>G - PLOD1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 1 - c.1329-20G>A r.(=) p.(=) - - - benign g.12024681G>A g.11964624G>A PLOD1(NM_000302.3):c.1329-20G>A - PLOD1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
Legend   How to query   « First ‹ Prev     1 2     Next › Last »