Full data view for gene PORCN

Information The variants shown are described using the NM_203475.1 transcript reference sequence.

277 entries on 3 pages. Showing entries 1 - 100.
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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     
?/. _1 c.-669C>T r.(=) p.(=) Maternal (inferred) - VUS g.48367540C>T g.48509152C>T - - PORCN_000120 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. _1 c.-669C>T r.(=) p.(=) Maternal (inferred) - VUS g.48367540C>T g.48509152C>T - - PORCN_000120 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. _1 c.-474T>C r.(=) p.(=) Maternal (inferred) - VUS g.48367735T>C g.48509347T>C - - PORCN_000125 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. _1 c.-474T>C r.(=) p.(=) Maternal (inferred) - VUS g.48367735T>C g.48509347T>C - - PORCN_000125 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. _1 c.-468C>T r.(=) p.(=) Maternal (inferred) - VUS g.48367741C>T g.48509353C>T - - PORCN_000126 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. _1 c.-468C>T r.(=) p.(=) Maternal (inferred) - VUS g.48367741C>T g.48509353C>T - - PORCN_000126 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/+ _1_8i c.-37_(845+1_846-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(?_48367100)_(48372899_?)del - del ex1-8 - PORCN_000119 mosaic PubMed: Sellars 2013 - - Somatic - - - - - DNA arrayCGH - - FDH case 1 PubMed: Sellars 2013 mosaic F - United States - - - - - 1 Maria Paola Lombardi
+/+ _1_8i c.-37_(845+1_846-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(?_48367100)_(48372899_?)del - del ex1-8 - PORCN_000119 fetus of case 1, prenatal diagnosis by ultrasound analysis and array CGH, PubMed: Sellars 2013 - - Germline - - - - - DNA arrayCGH - - FDH case 2 PubMed: Sellars 2013 Prenatal diagnosis of Goltz-Gorlin Syndrome at 11 3/7 weeks by first trimester ultrasound analysis F - United States - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48368172)_(48379202_?)del - del PORCN - PORCN_000065 microdeletion 1 PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 98/2 DNA arrayCGH, MAPH - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48368172)_(48379202_?)del - del PORCN - PORCN_000065 microdeletion 2 PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 100/0 DNA MAPH - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48368172)_(48379202_?)del - del PORCN - PORCN_000065 microdeletion 3 PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 100/0 DNA MAPH - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.48306152_48443561delinsCACGTGTGTTCTGGA g.48447780_48585173delinsCACGTGTGTTCTGGA hg18 48191096_48328505delinsCACGTGTGTTCTGGA - PORCN_000068 137,411 bp deletion incl. SLC38A5, FTSJ1, PORCN,EBP and OATL1 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Grzeschik 2007, PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 95/5 DNA arrayCGH, MAPH - - FDH - PubMed: Grzeschik 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.48036369_48401246del g.48176941_48542858del hg18 47921313_48286190del - PORCN_000069 364,864 bp deletion incl. SLC38A5, FTSJ1, PORCN, EBP Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Grzeschik 2007, PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 99/1 DNA arrayCGH, MAPH - - FDH - PubMed: Grzeschik 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.48063411_48467943del g.48203975_48609555del hg18 47948355_48352887del - PORCN_000070 377,520 bp deletion PORCN Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Grzeschik 2007, PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 97/3 DNA arrayCGH, MAPH - - FDH - PubMed: Grzeschik 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48175056)_(48365056_?)del - hg18 48060000_48250000del - PORCN_000071 ~219 kb deletion incl. FTSJ1, SLC38A5, PORCN, EBP, OATL1, RBM3, WDR13 PubMed: Wang 2007 - - Germline - - - - X-inactivation 100/0 DNA PCRq, arrayCGH, FISH - - FDH - PubMed: Wang 2007 mother and sister affected by history F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48368172)_(48379202_?)del - del PORCN - PORCN_000065 219 kb deletion PubMed: Wang 2007 - - De novo - - - - X-inactivation 100/0 DNA arrayCGH, FISH, PCRq - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(48210000_48170000)_(48330000_48460000)del - del PORCN - PORCN_000073 150 kb del PubMed: Froyen 2009 - - De novo - - - - X-inactivation non informative DNA arrayCGH - - FDH - PubMed: Froyen 2009 - F - Finland white - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48313056)_(48425056_?)del - hg18 48198000_48310000del - PORCN_000075 112 kb del PORCN PubMed: Houge, 2008 - - Germline - - - - X-inactivation 100/0 DNA arrayCGH - - FDH Norway PubMed: Houge, 2008 phenotype is angioma serpiginosum F - Norway white - - - - 1 Maria Paola Lombardi
+?/+? _1_14_ c.0 r.0 p.0 Maternal (inferred) - likely pathogenic (dominant) g.(?_48368172)_(48379202_?)del - del PORCN +? - PORCN_000065 502 kb deletion PubMed: Lombardi 2011 - - Germline - - - - X-inactivation 99/1 DNA arrayCGH - - FDH - PubMed: Lombardi 2011 born, 28-08-2005, referred by J van der Smagt F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48368172)_(48387104_?)del - deletion PORCN and EBP +? - PORCN_000115 - PubMed: Patrizi 2012 - - Germline - - - - - DNA MAPH - - FDH case report PubMed: Patrizi 2012 - F - Italy white - - - - 2 Maria Paola Lombardi
+/+ _1_14_ c.0 r.? p.? Unknown - pathogenic g.(?_48368172)_(48379202_?)del - - - PORCN_000065 - - - - Germline yes 9/157 patients - - - DNA MLPA PBL-DNA - FDH - - mother and sister affected F - Australia - >25y - - - 1 Maria Paola Lombardi
+/+ _1_14_ c.0 r.0 p.0 Unknown - pathogenic g.(?_48368172)_(48379202_?)del - ~0.459 Mb del in Xp11.23 including PORCN - PORCN_000065 - PubMed: Bostwick et al, 2016 - - Germline/De novo (untested) - - - - - DNA arrayCGH - custom‐designed exon‐targeted aCGH oligonucleotide microarrays V10.1(400K) FDH GS-13 PubMed: Bostwick et al, 2016 - F - United States - - - - - 1 Maria Paola Lombardi
+/+ 2 c.1A>G r.(?) p.0? Unknown - pathogenic (dominant) g.48368209A>G g.48509821A>G p.Met1? - PORCN_000001 - PubMed: Lombardi 2011 - - De novo - - - - - DNA SEQ - - FDH - PubMed: Lombardi 2011 - F - Netherlands white - - - - 1 Maria Paola Lombardi
+/+ 2 c.3G>A r.(?) p.0? Unknown - pathogenic (dominant) g.48368211G>A g.48509823G>A p.Met1Ile - PORCN_000002 - PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 79/21 DNA SEQ - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ _1_3i c.26_373+155del r.0? p.0? Unknown - pathogenic (dominant) g.48361709_48370478del g.48503321_48512090del del ex1-4 hg1848246653_48255422del - PORCN_000064 - PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 83/17 DNA arrayCGH, MAPH - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 2 c.49dup r.(?) p.(Cys17Leufs*11) Unknown - pathogenic (dominant) g.48368257dup g.48509869dup 49dupT - PORCN_000003 - PubMed: Harmsen 2009 - - De novo - - - - X-inactivation 54/46 DNA SEQ - - FDH - PubMed: Harmsen 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 2 c.53dup r.(?) p.(Leu19Profs*9) Unknown - pathogenic (dominant) g.48368261dup g.48509873dup 49dupT (Leu18LeufsX10) - PORCN_000004 - PubMed: Wang 2007 - - De novo - - - - X-inactivation 50/50 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 2 c.67C>T r.(?) p.Gln23* Unknown - pathogenic g.48368275C>T g.48509887C>T - - PORCN_000143 - PubMed: Ramirez-Botero et al., 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - FDH - PubMed: Ramirez-Botero et al., 2016 - F - Colombia - >08y - - - 1 Maria Paola Lombardi
+/+ 2 c.74del r.(?) p.(Gly25Alafs*27) Unknown - pathogenic (dominant) g.48368282del g.48509894del 74delG - PORCN_000005 - PubMed: Clements 2009 - - Germline - - - - X-inactivation 66.6/33.4 DNA SEQ - - FDH Proband 2 PubMed: Clements 2009 adopted F - United Kingdom (Great Britain) white - - - - 1 Maria Paola Lombardi
+/+ 2 c.107G>A r.(?) pCys36Tyr Unknown - pathogenic g.48368315G>A g.48509927G>A - - PORCN_000145 - PubMed: Bostwick et al, 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - FDH GS-8 PubMed: Bostwick et al, 2016 - F - United States - - - - - 1 Maria Paola Lombardi
+/+ 2 c.108C>A r.(?) p.(Cys36*) Unknown - pathogenic (dominant) g.48368316C>A g.48509928C>A - - PORCN_000082 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 1 PubMed: Fernandes 2010 - F - - - - - - - 1 Raoul Hennekam
+?/. - c.115T>C r.(?) p.(Cys39Arg) Unknown - likely pathogenic g.48368323T>C g.48509935T>C - - PORCN_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.129G>A r.(?) p.(Trp43*) Unknown - pathogenic (dominant) g.48368337G>A g.48509949G>A truncation, detected in blood - PORCN_000099 de novo, somatic mosaicism PubMed: Yoshihashi 2010 - - Somatic - - - - - DNA SEQ - - FDH case report PubMed: Yoshihashi 2010 mosaic M - Japan Japan - - - - 1 Raoul Hennekam
+?/+? 2 c.129G>A r.(?) p.(Trp43*) Unknown - likely pathogenic (dominant) g.48368337G>A g.48509949G>A - - PORCN_000099 truncation, detected in blood PubMed: Nakanishi 2013 - - Germline - - - - - DNA SEQ - - FDH case 1 PubMed: Nakanishi 2013 typical cutaneous symptoms and skeletal abnomalities F - Japan Japan - - - - 1 Maria Paola Lombardi
+/+ 2i c.136+1G>A r.spl p.? Unknown - pathogenic (dominant) g.48368345G>A g.48509957G>A IVS2+1G>A - PORCN_000098 splicing defect PubMed: Kapoor 2012 - - Germline - - - - - DNA SEQ - - FDH case report PubMed: Kapoor 2012 11 y old girl F - India Indian - - - - 1 Raoul Hennekam
+/+ 2i c.136+2del r.spl p.? Unknown - pathogenic (dominant) g.48368346del g.48509958del 136+2delT - PORCN_000083 splicing defect PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 2 PubMed: Fernandes 2010 - F - - - - - - - 1 Raoul Hennekam
+/+ 2 c.136+2del r.spl p.(?) Unknown - pathogenic g.48368346del g.48509958del - - PORCN_000083 - PubMed: Bostwick et al, 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - FDH GS-3 PubMed: Bostwick et al, 2016 - F - United States - - - - - 1 Maria Paola Lombardi
+/+ intron 2 c.136+2T>C r.spl p.? Unknown - pathogenic g.48368346T>C g.48509958T>C - - PORCN_000166 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - FDH AMC_46 - - F - Scotland - - - - - 1 Maria Paola Lombardi
-/- i2 c.137-4A>T r.(?) p.? Both (homozygous) - likely benign g.48369679A>T g.48511291A>T - - PORCN_000151 variant found in unaffected father (hemizygote) and mother - - - Germline no 0.000009798 in gnomAD (2x hemizygotes) - - - DNA SEQ - - FDH AMC-37 - - F - Netherlands - - - - - 1 Maria Paola Lombardi
-?/. - c.137-4A>T r.spl? p.? Unknown - likely benign g.48369679A>T - PORCN(NM_203475.3):c.137-4A>T - PORCN_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2i c.137-3A>G r.spl? p.? Unknown - likely pathogenic (dominant) g.48369680A>G g.48511292A>G - - PORCN_000105 splicing defect predicted with in silico analysis unpublished - - Germline - - - - - DNA SEQ - - FDH - unpublished - F - Poland white - - - - 1 Robert Smigiel
+/+ Intron 2 c.137-3A>G r.(?) p.? Unknown - pathogenic g.48369680A>G g.48511292A>G - - PORCN_000105 - PubMed: Mary 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - FDH Fetus 2 PubMed: Mary 2016 Pregnancy interrupted between 22 and 34 GW, because of the lethality of the malformations. F no France - - - - - 1 Maria Paola Lombardi
+/+ 3 c.166_167dup r.(?) p.(Val57Profs*60) Unknown - pathogenic (dominant) g.48369712_48369713dup g.48511324_48511325dup - - PORCN_000006 - PubMed: Harmsen 2009 - - Germline - - - - X-inactivation 83/17 DNA SEQ - - FDH - PubMed: Harmsen 2009 mother of FDH3b F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.166_167dup r.(?) p.(Val57Profs*60) Maternal (confirmed) - pathogenic (dominant) g.48369712_48369713dup g.48511324_48511325dup - - PORCN_000006 mother to daughter transmission PubMed: Harmsen 2009 - - Germline - - - - X-inactivation 80/20 DNA SEQ - - FDH - PubMed: Harmsen 2009 daughter of FDH3a F - - - - - - - 1 Maria Paola Lombardi
+/+ - c.173_178delinsACT r.(?) p.Ala58_Gly60delins Unknown - pathogenic g.48369719_48369724delinsACT g.48511331_48511336delinsACT - - PORCN_000139 mosaic in buccal swab DNA, variant not detected in DNA extracted from blood PubMed: Severino-Freire 2017 - - Somatic - - - - - DNA SEQ PBL-DNA and buccal swab DNA - FDH AMC_59 PubMed: Severino-Freire 2017 - F - France - >09y - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Maternal (confirmed) - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 mother low level mosaicism PubMed: Wang 2007 - - Germline - - - - X-inactivation 63/37 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Wang 2007 - - De novo - - - - X-inactivation 50/50 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 3 PubMed: Fernandes 2010 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 4 PubMed: Fernandes 2010 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 5 - - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 de novo, in patient unpublished - - De novo - - - - - DNA SEQ - - FDH - unpublished - F - Italy white - - - - 1 Raoul Hennekam
+/+ 3 c.178G>A r.(?) p.(Gly60Arg) Unknown - pathogenic (dominant) g.48369724G>A g.48511336G>A - - PORCN_000007 detected in blood unpublished - - Germline - - - - - DNA SEQ - - FDH - unpublished mosaic M - Netherlands - - - - - 1 Maria Paola Lombardi
+/+ 3 c.178G>A r.(?) p.Gly60Arg Unknown - pathogenic g.48369724G>A g.48511336G>A - - PORCN_000007 - PubMed: Bostwick et al, 2016 ClinVar-RCV000011447.6 - Germline/De novo (untested) - - - - - DNA SEQ - - FDH GS-10 PubMed: Bostwick et al, 2016 - F - United States - - - - - 1 Maria Paola Lombardi
+?/. - c.178G>A r.(?) p.(Gly60Arg) Unknown - likely pathogenic g.48369724G>A g.48511336G>A c.178G-->A; p.Gly60Arg - PORCN_000007 confirmed with Sanger sequencing; heterozygous PubMed: Patel 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - FDH 294 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.178G>A r.(?) p.(Gly60Arg) Maternal (inferred) - likely pathogenic g.48369724G>A g.48511336G>A PORCN c.178G>A - PORCN_000007 no protein change given, probably hemizygous (gender unknown) PubMed: Zanolli 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 73 PubMed: Zanolli 2020 individual ID not present in paper, consecutive numbers given ? - Chile - - - - - 1 LOVD
+/. 3 c.205C>T r.(?) p.(Gln69*) Unknown - pathogenic g.48369751C>T g.48511363C>T - - PORCN_000135 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - GOSHS - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.209T>G r.(?) p.(Leu70Arg) Unknown - likely benign g.48369755T>G g.48511367T>G PORCN(NM_203475.2):c.209T>G (p.L70R) - PORCN_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.221G>A r.(?) p.(Trp74*) Unknown - pathogenic (dominant) g.48369767G>A g.48511379G>A - - PORCN_000008 - PubMed: Harmsen 2009 - - De novo - - - - X-inactivation 76/24 DNA SEQ - - FDH - PubMed: Harmsen 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.222G>A r.(?) p.(Trp74*) Unknown - pathogenic (dominant) g.48369768G>A g.48511380G>A - - PORCN_000009 - PubMed: Grzeschik 2007 - - Germline - - - - X-inactivation 65/35 DNA SEQ - - FDH - PubMed: Grzeschik 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.268C>T r.(?) p.(Arg90*) Unknown - pathogenic (dominant) g.48369814C>T g.48511426C>T - - PORCN_000010 - PubMed: Wang 2007 - - Germline - - - - X-inactivation 81/19 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.268C>T r.(?) p.(Arg90*) Unknown - pathogenic (dominant) g.48369814C>T g.48511426C>T - - PORCN_000010 postzygotic mosaic PubMed: Bornholdt 2009 - - Somatic - - - - X-inactivation 60/40 DNA SEQ - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.268C>T r.(?) p.(Arg90*) Unknown - pathogenic (dominant) g.48369814C>T g.48511426C>T - - PORCN_000010 mosaic PubMed: Harmsen 2009 - - Somatic - - - - X-inactivation 37/63 DNA SEQ - - FDH - PubMed: Harmsen 2009 - F - - - - - - - 1 Maria Paola Lombardi
+?/+? 3 c.268C>T r.(?) p.(Arg90*) Unknown - likely pathogenic (dominant) g.48369814C>T g.48511426C>T - - PORCN_000010 - not published - - Germline - - - - - DNA SEQ - - FDH - not published - F - United Kingdom (Great Britain) - - - - - 1 Maria Paola Lombardi
+/+ 3 c.283C>T r.(?) p.(Arg95*) Unknown - pathogenic (dominant) g.48369829C>T g.48511441C>T - - PORCN_000011 - PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 55/45 DNA SEQ - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 3 c.283C>T r.(?) p.(Arg95*) Unknown - pathogenic (dominant) g.48369829C>T g.48511441C>T - - PORCN_000011 - PubMed: Maas 2009 - - De novo - - - - - DNA SEQ - - FDH 1 PubMed: Maas 2009 - F - Netherlands white - - - - 1 Maria Paola Lombardi
+/+ 3 c.283C>T r.(?) p.(Arg95*) Unknown - pathogenic (dominant) g.48369829C>T g.48511441C>T - - PORCN_000011 mosaic PubMed: Fernandes 2010 - - Somatic - - - - - DNA SEQ - - FDH Pt 6 PubMed: Fernandes 2010 mosaic M - - - - - - - 1 Maria Paola Lombardi
-?/. - c.289G>A r.(?) p.(Val97Ile) Unknown - likely benign g.48369835G>A g.48511447G>A PORCN(NM_001282167.2):c.76G>A (p.V26I) - PORCN_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329+9A>G r.(=) p.(=) Unknown - likely benign g.48369884A>G - PORCN(NM_001282167.1):c.116+9A>G - PORCN_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 3i c.330-27del r.(?) p.(=) Unknown - likely benign g.48370253del g.48511865del 330-27delG - PORCN_000101 predicted to be benign with in silico analysis PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 11 PubMed: Fernandes 2010 - F - - - - - - - 1 Raoul Hennekam
-?/-? 3i c.330-11T>A r.(?) p.(=) Unknown - likely benign g.48370269T>A g.48511881T>A - - PORCN_000100 possible begnin PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 22 PubMed: Fernandes 2010 - F - - - - - - - 1 Maria Paola Lombardi
?/. - c.340A>G r.(?) p.(Met114Val) Unknown - VUS g.48370290A>G g.48511902A>G - - PORCN_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>A r.(?) p.(Val115Ile) Unknown - VUS g.48370293G>A - PORCN(NM_203475.3):c.343G>A (p.V115I) - PORCN_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.360G>A r.(?) p.(Trp120*) Unknown - pathogenic (dominant) g.48370310G>A g.48511922G>A - - PORCN_000084 mosaic PubMed: Fernandes 2010 - - Somatic - - - - - DNA SEQ - - FDH Pt 7 PubMed: Fernandes 2010 mosaic F - - - - - - - 1 Maria Paola Lombardi
?/+? - c.368T>G r.(?) p.(Met123Arg) Maternal (confirmed) - VUS g.48370318T>G g.48511930T>G - - PORCN_000136 - - - - Germline - - - - - DNA SEQ-NG - WES SHFM6 35-II-1 - - M no Japan - - - - - 1 Kaori Yamoto
+/+ 4 c.370C>T r.(?) p.(Arg124*) Unknown - pathogenic (dominant) g.48370320C>T g.48511932C>T - - PORCN_000012 mosaic PubMed: Wang 2007 - - Somatic - - - - - DNA SEQ - - FDH - PubMed: Wang 2007 - M - - - - - - - 1 Maria Paola Lombardi
+/+ 4 c.370C>T r.(?) p.(Arg124*) Unknown - pathogenic (dominant) g.48370320C>T g.48511932C>T - - PORCN_000012 - PubMed: Grzeschik 2007 - - Germline - - - - X-inactivation 50/50 DNA SEQ - - FDH - PubMed: Grzeschik 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 4 c.370C>T r.(?) p.(Arg124*) Unknown - pathogenic (dominant) g.48370320C>T g.48511932C>T - - PORCN_000012 postzygotic mosaic PubMed: Grzeschik 2007 - - Somatic - - - - X-inactivation 50/50 DNA SEQ - - FDH - PubMed: Grzeschik 2007 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 4 c.370C>T r.(?) p.(Arg124*) Unknown - pathogenic (dominant) g.48370320C>T g.48511932C>T - - PORCN_000012 - PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 52/48 DNA SEQ - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 4 c.370C>T r.(?) p.(Arg124*) Unknown - pathogenic (dominant) g.48370320C>T g.48511932C>T - - PORCN_000012 - MP Lombardi (unpublished) - - De novo - - - - - DNA SEQ - - FDH - communicated by MP Lombardi - F - United Kingdom (Great Britain) white - - - - 1 Maria Paola Lombardi
+/+? 4 c.373G>A r.spl? p.(Gly125Arg) Unknown - pathogenic (dominant) g.48370323G>A g.48511935G>A - - PORCN_000081 - unpublished - - Germline - - - - - DNA SEQ - - FDH - unpublished - F - United Kingdom (Great Britain) European - - - - 1 John Dean
+/+ 4i c.373+1G>A r.spl p.? Unknown - pathogenic (dominant) g.48370324G>A g.48511936G>A - - PORCN_000013 - PubMed: Leoyklang 2009 - - De novo - - - - X-inactivation 61/39 DNA SEQ - - FDH patient 1 PubMed: Leoyklang 2009 - F - Thailand Thai - - - - 1 Maria Paola Lombardi
?/. 3i c.373+150G>A r.(=) p.(=) Maternal (inferred) - VUS g.48370473G>A g.48512085G>A - - PORCN_000121 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 3i c.373+150G>A r.(=) p.(=) Maternal (inferred) - VUS g.48370473G>A g.48512085G>A - - PORCN_000121 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/+ 4i c.374-46T>A r.spl p.(=) Unknown - pathogenic (dominant) g.48370668T>A g.48512280T>A - - PORCN_000016 - PubMed: Harmsen 2009 - - Germline - - - - X-inactivation 86/14 DNA SEQ - - FDH - PubMed: Harmsen 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/? 4i c.374-15T>A r.spl p.? Unknown - pathogenic (dominant) g.48370699T>A - - - PORCN_000015 de novo (inferred) Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Schaffer 2009 - - De novo - - - - - DNA SEQ - - FDH case report PubMed: Schaffer 2009 - F - Ecuador - - - - - 1 Maria Paola Lombardi
+?/+? 4i c.374-15T>A r.spl p.? Unknown - likely pathogenic (dominant) g.48370699T>A - - - PORCN_000015 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Fernandes 2010 - - Germline - - - - - DNA SEQ - - FDH Pt 24 PubMed: Fernandes 2010 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 4i c.374-1G>A r.spl p.? Unknown - pathogenic (dominant) g.48370713G>A g.48512325G>A - - PORCN_000014 - PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 84/16 DNA SEQ - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
+/+ 5 c.387del r.[373_374ins374-13_374-1,387del] p.Ala126_Ile129delinsTTHRGTDD Unknown - pathogenic (dominant) g.48370727del g.48512339del - - PORCN_000118 mRNA analysis shows a 13bp insertion created by an alternative splicing site PubMed: Nakanishi 2013 - - Germline - - - - X-inactivation slightly skewed pattern in lesional skin DNA, RNA RT-PCR, SEQ - - FDH case 2 PubMed: Nakanishi 2013 mosaic F - Japan Japan - - - - 1 Maria Paola Lombardi
+/+ 5 c.407C>T r.(?) p.(Ser136Phe) Unknown - pathogenic (dominant) g.48370747C>T g.48512359C>T - - PORCN_000017 - PubMed: Bornholdt 2009 - - Germline - - - - X-inactivation 57/43 DNA SEQ - - FDH - PubMed: Bornholdt 2009 - F - - - - - - - 1 Maria Paola Lombardi
-?/. - c.443C>T r.(?) p.(Thr148Met) Unknown - likely benign g.48370783C>T g.48512395C>T PORCN(NM_022825.2):c.443C>T (p.(Thr148Met)) - PORCN_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.446T>A r.(?) p.(Val149Glu) Unknown - VUS g.48370786T>A g.48512398T>A PORCN(NM_001282167.1):c.233T>A (p.V78E) - PORCN_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.453G>A r.(?) p.(Ser151=) Unknown - likely benign g.48370793G>A - PORCN(NM_001282167.1):c.240G>A (p.S80=) - PORCN_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.470G>A r.(?) p.(Gly157Asp) Maternal (confirmed) - likely pathogenic g.48370810G>A g.48512422G>A - - PORCN_000127 - - - - Germline yes - - - - DNA SEQ-NG-I - - FDH - - - M no (Belgium) white 00y00m00d - - - 1 Paul Brady
+?/? 4 c.470G>A r.(?) p.(Gly157Asp) Maternal (confirmed) - likely pathogenic g.48370810G>A g.48512422G>A - - PORCN_000127 - - - - Germline yes - - - - DNA SEQ-NG-I - - FDH - - - M no (Belgium) white 00y00m10d - - - 1 Paul Brady
+?/? 4 c.470G>A r.(?) p.(Gly157Asp) Maternal (confirmed) - likely pathogenic g.48370810G>A g.48512422G>A - - PORCN_000127 - - - - Germline yes - - - - DNA SEQ-NG-I - - FDH - - skewed X-inactivation; 70/30 F no (Belgium) white >08y - - - 1 Paul Brady
+?/? 4 c.470G>A r.(?) p.(Gly157Asp) Maternal (confirmed) - likely pathogenic g.48370810G>A g.48512422G>A - - PORCN_000127 - - - - Germline yes - - - - DNA SEQ-NG-I - - FDH - - skewed X-inactivation; 88/18 F no (Belgium) white >05y - - - 1 Paul Brady
+?/? 4 c.470G>A r.(?) p.(Gly157Asp) Unknown - likely pathogenic g.48370810G>A g.48512422G>A - - PORCN_000127 - - - - Unknown yes - - - - DNA SEQ-NG-I - - Healthy/Control - - healthy mother of Patient 1, Patient 2, Patient 3, Patient 4. Skewed X-inactivation; 90/10 F no (Belgium) white >40y - - - 1 Paul Brady
+/+ 5 c.479dup r.(?) p.(Tyr160*) Unknown - pathogenic (dominant) g.48370819dup g.48512431dup 479dupA - PORCN_000018 - PubMed: Wang 2007 - - De novo - - - - X-inactivation 52/48 DNA SEQ - - FDH - PubMed: Wang 2007 - F - - - - - - - 1 Maria Paola Lombardi
+?/. - c.484dup r.(?) p.(Val162GlyfsTer63) Unknown - likely pathogenic (recessive) g.48370824dup g.48512436dup - - PORCN_000178 ACMG PVS1, PM2, PP3, PP4 PubMed: Schuermans 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - targeted gene analysis ? Pat49 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease F - Belgium - - - - - 1 Johan den Dunnen
+?/. 5 c.487G>A r.(?) p.(Gly163Ser) Maternal (inferred) - VUS g.48370827G>A g.48512439G>A - - PORCN_000128 - - - - Germline - - - - - DNA SEQ - - ? 121906 - multi-generation family, several affecteds M no United Kingdom (Great Britain) White British >26y - Yes - 2 Emma Wakeling
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