Full data view for gene TSPAN12

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_012338.3 transcript reference sequence.

163 entries on 2 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     
+/. 7i_8_ c.(612+1_613-1)_*1272{0} r.? p.? Parent #1 - pathogenic g.(?_120427374)_(120428952_120446602)del - del ex8 - TSPAN12_000096 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG, PCRq - 790-gene panel retinal disease Pat2 PubMed: Huang 2017 2-generation family, 4 affeceted (2F, 2M) F;M - China - - - - - 4 LOVD
+/. _1_8_ c.-374_*1272{0} r.0? c.0? Unknown - pathogenic (dominant) g.(?_120427374)_(120498177_?)del g.(?_120787320)_(120858123_?)del 7q22 gene deletion - TSPAN12_000097 - PubMed: Miller 2015 - - Germline/De novo (untested) - - - - - DNA ? - - EVR;FEVR patient PubMed: Miller 2015 - F - United States - - - - - 1 Johan den Dunnen
+/. 2 c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic (dominant) g.120496817T>C g.120856763T>C - - TSPAN12_000039 - PubMed: Li 2019 - - Germline yes - - - - DNA SEQ, SEQ-ON - - EVR5, EVR;FEVR, PHPVAR IV:1 PubMed: Li 2019 4 generation family, 6 affected (2 severe, 4 mild) M no China - - - - - 6 Jasmine Chen
+/. 2 c.1A>G r.? p.? Unknown - pathogenic g.120496817T>C g.120856763T>C - - TSPAN12_000039 - PubMed: Yuan 2019 - rs1341600790 Germline yes 3/120 patients, 0/500 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR5 Fam1PatI2 PubMed: Yuan 2019 2-generation family, mother/daughter/son F ? China Chinese - - - - 3 Dong Sun
+/. 2 c.1A>G r.? p.? Maternal (confirmed) - VUS g.120496817T>C g.120856763T>C - - TSPAN12_000039 - PubMed: Yuan 2019 - rs1341600790 Germline yes 3/120 patients, 0/500 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR5 Fam1PatII1 PubMed: Yuan 2019 daughter F ? China Chinese - - - - 1 Dong Sun
+/. 2 c.1A>G r.? p.? Maternal (confirmed) - pathogenic g.120496817T>C g.120856763T>C - - TSPAN12_000039 - PubMed: Yuan 2019 - rs1341600790 Germline yes 3/120 patients, 0/500 individual controls - - - DNA SEQ-NG-I peripheral blood Sanger sequencing EVR5 Fam1PatII2 PubMed: Yuan 2019 son M ? (China) Chinese - - - - 2 Dong Sun
+/. - c.2T>C r.(?) p.(Met1?) Parent #1 - pathogenic g.120496816A>G g.120856762A>G - - TSPAN12_000054 - PubMed: Tang 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam51 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
+?/. 2 c.2T>C r.(?) p.(Met1?) Unknown - likely pathogenic g.120496816A>G g.120856762A>G TSPAN12 2T?>?C, Met1Thr - TSPAN12_000054 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.53A>G r.(?) p.(Asn18Ser) Paternal (confirmed) - likely pathogenic g.120496765T>C g.120856711T>C 461A>C, Gln154Pro - TSPAN12_000087 - PubMed: Chen 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood paediatric disease gene panel retinal disease RD046_II:1 PubMed: Chen 2019 proband, family RD046, individual II:1 M no China - - - - - 2 LOVD
+?/. - c.53A>G r.(?) p.(Asn18Ser) Unknown - likely pathogenic g.120496765T>C g.120856711T>C 461A>C, Gln154Pro - TSPAN12_000087 - PubMed: Chen 2019 - - Germline yes - - - - DNA SEQ blood paediatric disease gene panel retinal disease RD046_I:1 PubMed: Chen 2019 father, family RD046, individual I:1 M no China - - - - - 1 LOVD
?/. - c.56T>G r.(?) p.(Leu19Arg) Unknown - VUS g.120496762A>C g.120856708A>C - - TSPAN12_000032 - PubMed: Seo 2016 - - Germline/De novo (untested) - - - - - DNA PCRm, PCRsqd - - EVR5, EVR;FEVR Patient 4 PubMed: Seo 2016 pedigree unavailable M ? Korea, South (Republic) - - - - - 1 Jasmine Chen
+?/. - c.56T>G r.(?) p.(Leu19Arg) Parent #1 - likely pathogenic (dominant) g.120496762A>C g.120856708A>C - - TSPAN12_000032 not in 288 control alleles PubMed: Seo 2015 - - Germline - - - - - DNA SEQ - - retinal disease Pat18 PubMed: Seo 2015 - M - Korea - - - - - 1 LOVD
+?/. - c.66+1G>A r.spl? p.? Unknown - likely pathogenic g.120496751C>T g.120856697C>T - - TSPAN12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67-3C>T r.spl? p.? Unknown - likely benign g.120480166G>A g.120840112G>A TSPAN12(NM_012338.4):c.67-3C>T - TSPAN12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.67-2A>G r.spl p.? Maternal (confirmed) - likely pathogenic g.120480165T>C g.120840111T>C - - TSPAN12_000056 - PubMed: Iarossi 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam6 PubMed: Iarossi 2017 2-generation family, 1 affected, carrier mother M - Italy - - - - - 1 LOVD
+/. 2i c.67-2A>G r.spl p.? Unknown - pathogenic (dominant) g.120480165T>C - IVS2 c.67-2A>G - TSPAN12_000056 - PubMed: Amorelli 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - EVR;FEVR patient PubMed: Amorelli 2019 - M - Italy - - - - - 1 Johan den Dunnen
+/. 2i c.67-1G>C r.spl p.Leu23Glyfs*66 Both (homozygous) - likely pathogenic (recessive) g.120480164C>G g.120840110C>G - - TSPAN12_000031 - PubMed: Poulter 2012 - - Germline yes - - - - DNA PCR - direct sequencing EVR5, EVR;FEVR TM IV:1 PubMed: Poulter 2012 4 generation family, 1 severely affected, 3 mildly affected F yes India - - - - - 4 Jasmine Chen
+/. 2i c.67-1G>C r.spl p.Leu23Glyfs*66 Paternal (inferred) - likely pathogenic g.120480164C>G g.120840110C>G - - TSPAN12_000031 - PubMed: Poulter 2012 - - Germline ? - - - - DNA PCR - direct sequencing EVR5, EVR;FEVR TM III:9 PubMed: Poulter 2012 4 generation family, 1 severely affected, 3 mildly affected M no India - - - - - 1 Jasmine Chen
+/. 3 c.68T>G r.(?) p.(Leu23*) Unknown - VUS g.120480162A>C g.120840108A>C - - TSPAN12_000030 - PubMed: Poulter 2010 - - De novo ? - - - - DNA ? - direct sequencing EVR5, EVR;FEVR Individual Patient 1 PubMed: Poulter 2010 Isolated patient (no reported eye problems in family) F ? United States - - - - - 1 Jasmine Chen
+/. 3 c.125T>C r.(?) p.(Val42Ala) Unknown - pathogenic g.120480105A>G g.120840051A>G - - TSPAN12_000061 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam10 PubMed: Musada 2016 see paper - yes India - - - - - 1 LOVD
+/. 3 c.146C>T r.(?) p.(Thr49Met) Unknown - pathogenic g.120480084G>A g.120840030G>A - - TSPAN12_000029 heterozygous, either germline or de novo PubMed: Poulter 2012 - - Germline/De novo (untested) ? 0/500 control chromosomes - - - DNA PCR - direct sequencing EVR5, EVR;FEVR Individual 1 PubMed: Poulter 2012 Sporadic patient F no United Kingdom (Great Britain) Nigerian - - - - 1 Jasmine Chen
+/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.120480084G>A g.120840030G>A - - TSPAN12_000029 - PubMed: Yang 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - direct sequencing EVR5, EVR;FEVR Family 1 II:1 PubMed: Yang 2011 2 generation family, 1 affected M no China - - - - - 1 Jasmine Chen
+?/. - c.146C>T r.(?) p.(Thr49Met) Unknown - likely pathogenic g.120480084G>A g.120840030G>A 146C>T, Thr49Met - TSPAN12_000029 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 214 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. - c.149+1G>A r.spl p.? Unknown - pathogenic g.120480080C>T g.120840026C>T - - TSPAN12_000068 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 16305001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. - c.149+1G>A r.spl p.? Unknown - pathogenic g.120480080C>T g.120840026C>T - - TSPAN12_000068 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 16307001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. 4i c.149+3A>G r.spl? p.? Maternal (inferred) - likely pathogenic (dominant) g.120480078T>C g.120840024T>C - - TSPAN12_000028 - PubMed: Poulter 2010 - - Germline yes 0/500 control chromosomes - - - DNA ? - direct sequencing EVR5, EVR;FEVR Family 3 III:1 PubMed: Poulter 2010 3 generation family, 2 affected F no United States European - - - - 2 Jasmine Chen
+?/. - c.149+3A>G r.spl? p.? Maternal (confirmed) - VUS g.120480078T>C g.120840024T>C - - TSPAN12_000028 - PubMed: Carroll 2019 - - Germline yes - - - - DNA ? blood - EVR5 Fam PubMed: Carroll 2019 family, affected and asymptomatic heterozygous carriers F ? - white - - - laser-assisted in situ keratomileusis (LASIK) 3 Dong Sun
+?/. - c.149+3A>G r.spl? p.? Maternal (confirmed) - VUS g.120480078T>C g.120840024T>C - - TSPAN12_000028 - PubMed: Carroll 2019 - - Germline yes - - - - DNA ? blood - EVR5 Fam PubMed: Carroll 2019 younger sister F ? - white - - - - 1 Dong Sun
+?/. - c.149+3A>G r.spl? p.? Unknown - VUS g.120480078T>C g.120840024T>C - - TSPAN12_000028 - PubMed: Carroll 2019 - - Germline yes - - - - DNA ? blood - EVR5 Fam PubMed: Carroll 2019 mother F - - white - - - - 1 Dong Sun
+/. - c.150-1G>A r.spl p.? Parent #1 - pathogenic g.120478967C>T g.120838913C>T - - TSPAN12_000053 - PubMed: Tang 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam49 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
+?/. 3i c.150-1G>A r.spl p.(?) Unknown - likely pathogenic g.120478967C>T g.120838913C>T TSPAN12 150-1G?>?A, IVS3 ds G-A ?1 - TSPAN12_000053 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+/. - c.171_172ins r.(?) p.(Thr58Tyrfs*59) Unknown - pathogenic g.? g.? c.171_172ins, p.(Thr58Tyrfs*59) - EZH2_000001 error in annotation: inserted nucleotides not written, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13703 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
?/. - c.175T>G r.(?) p.(Tyr59Asp) Unknown - VUS g.120478941A>C g.120838887A>C - - TSPAN12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.177del r.(?) p.(Tyr59fs*67) Maternal (confirmed) - pathogenic (dominant) g.120478939del g.120838885del 177delC - TSPAN12_000038 0/400 control chromosomes PubMed: Xu 2014 - - Germline yes - - - - DNA PCR - direct sequencing EVR5, EVR;FEVR B II:1 PubMed: Xu 2014 2 generation family, 1 affected F no China - - - - - 1 Jasmine Chen
+?/. - c.193C>T r.(?) p.(Pro65Ser) Unknown - likely pathogenic g.120478923G>A g.120838869G>A c.193G>A, p.(Pro65Ser) - TSPAN12_000086 error in annotation: c.193G>A instead of C>T, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13415 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
?/. - c.194C>T r.(?) p.(Pro65Leu) Parent #1 - VUS g.120478922G>A g.120838868G>A - - TSPAN12_000063 not in 354 control alleles PubMed: Seo 2015 - - Germline - 2/51 patients - - - DNA SEQ - - retinal disease patient PubMed: Seo 2015 FEVR patients - - Korea - - - - - 2 LOVD
?/. 4 c.194C>T r.(?) p.(Pro65Leu) Maternal (confirmed) ACMG VUS g.120478922G>A g.120838868G>A c.194C>T, p.P65L - TSPAN12_000063 - PubMed: Surl 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 8 PubMed: Li 2018 - F - China - - - - - 1 LOVD
?/. 4 c.194C>T r.(?) p.(Pro65Leu) Maternal (confirmed) ACMG VUS g.120478922G>A g.120838868G>A TPSAN12 c.194C>T, p.P65L - TSPAN12_000063 heterozygous PubMed: Li 2020 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease 9 PubMed: Li 2020 - M - - - - - - - 1 LOVD
+?/. 5 c.194C>T r.(?) p.(Pro65Leu) Unknown - likely pathogenic (dominant) g.120478922G>A - c.194C>T - TSPAN12_000063 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
?/. - c.194C>T r.(?) p.(Pro65Leu) Paternal (confirmed) - VUS g.120478922G>A g.120838868G>A - - TSPAN12_000063 variant in unaffected father PubMed: Fan 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Pat10 PubMed: Fan 2020 2-generation family, 1 affected - - China - - - - - 1 Johan den Dunnen
+?/. 4 c.212G>T r.(?) p.(Cys71Phe) Unknown - likely pathogenic g.120478904C>A g.120838850C>A TSPAN12 212G?>?T, Cys71Phe - TSPAN12_000085 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.212G>T r.(?) p.(Cys71Phe) Unknown - likely pathogenic g.120478904C>A g.120838850C>A c.212C>A, p.(Cys71Phe) - TSPAN12_000085 error in annotation: c.212C>A instead of G>T, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13675 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 4 c.212_218dup r.(?) p.(Phe73Leufs*46) Paternal (confirmed) - likely pathogenic (dominant) g.120478907_120478913dup g.120838853_120838859dup 218_219insGCTCTTT - TSPAN12_000042 figure shows insertion of GCTGTTT not GCTCTTT; premature termination at codon 118 PubMed: Poulter 2010 - - Germline ? - - - - DNA ? - - EVR5, EVR;FEVR Family 1 III:2 PubMed: Poulter 2010 3 generation family, 1 affected (1 unusual fundus appearance), 1 carrier F no Australia - - - - - 2 Jasmine Chen
+/. 4 c.212_218dup r.(?) p.(Phe73Leufs*46) Parent #1 - likely pathogenic (dominant) g.120478907_120478913dup g.120838853_120838859dup 218_219insGCTCTTT - TSPAN12_000042 figure shows insertion of GCTGTTT not GCTCTTT; premature termination at codon 118 PubMed: Poulter 2010 - - Germline/De novo (untested) ? - - - - DNA ? - direct sequencing EVR;FEVR Family 1 II:2 PubMed: Poulter 2010 3 generation family, 1 affected, II:2 with unusual fundus appearance M no Australia - - - - - 1 Jasmine Chen
+/. - c.225_227del r.(?) p.(Ile76del) Unknown - pathogenic g.120478889_120478891del - 7:120478888AATG>A ENST00000222747.3:c.225_227delCAT (Ile76del) - TSPAN12_000047 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G001414 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.225_227del r.(?) p.(Ile76del) Unknown - likely pathogenic g.120478891_120478893del g.120838837_120838839del TSPAN12 c.225_227delCAT, p.Ile76del - TSPAN12_000047 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G001414 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.234del r.(?) p.(Met79CysfsTer2) Parent #1 - pathogenic g.120478885del g.120838831del 231del - TSPAN12_000062 not in 624 control chromosomes PubMed: Sun 2015 - - Germline - 1/596 chromosomes - - - DNA SEQ-NG - WES retinal disease HM674 PubMed: Sun 2015 proband - - China - - - - - 1 LOVD
+/. - c.234del r.(?) p.(Met79Cysfs*2) Unknown - pathogenic g.120478885del g.120838831del c.234del, p.(Met79Cysfs*2) - TSPAN12_000062 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14390 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.253A>C r.(?) p.(Thr85Pro) Unknown - likely pathogenic g.120478863T>G g.120838809T>G c.253A>C, p.(Thr85Pro) - TSPAN12_000084 error in annotation: c.253T>G instead of A>C, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14394 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.253A>C r.(?) p.(Thr85Pro) Unknown - likely pathogenic g.120478863T>G g.120838809T>G c.253T>G, p.(Thr85Pro) - TSPAN12_000084 error in annotation: c.253T>G instead of A>C, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14885 PubMed: Wang 2019 - F - China - - - - - 1 LOVD
+/. - c.254C>T r.(?) p.(Thr85Met) Maternal (confirmed) - pathogenic (dominant) g.120478862G>A g.120838808G>A - - TSPAN12_000037 0/400 control chromosomes PubMed: Xu 2014 - - Germline yes - - - - DNA PCR - direct sequencing EVR5, EVR;FEVR C II:1 PubMed: Xu 2014 2 generation family, 1 affected M no China - - - - - 1 Jasmine Chen
?/. 4 c.274C>T r.(?) p.(Leu92Phe) Unknown - VUS g.120478842G>A g.120838788G>A C274T - TSPAN12_000069 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#021 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. 4_ c.285+1G>A r.spl p.? Unknown - VUS g.120478830C>T g.120838776C>T - - TSPAN12_000026 heterozygous PubMed: Poulter 2012 - - Germline/De novo (untested) ? - - - - DNA PCR - direct sequencing EVR5, EVR;FEVR Individual 1 PubMed: Poulter 2012 Sporadic patient F no United Kingdom (Great Britain) Nigerian - - - - 1 Jasmine Chen
+/. - c.285+1G>A r.spl p.? Parent #1 - pathogenic g.120478830C>T g.120838776C>T - - TSPAN12_000026 - PubMed: Tang 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam20 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
+?/. 4i c.285+1G>A r.spl p.(?) Unknown - likely pathogenic g.120478830C>T g.120838776C>T TSPAN12 285+1G�>�A, IVS4 ds G-A +1 - TSPAN12_000026 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. 2 c.286-2A>C r.spl p.(?) Unknown - likely pathogenic g.120455859T>G g.120815805T>G TSPAN12 286-2A?>?C, - - TSPAN12_000083 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.286-2A>C r.spl p.(?) Unknown - likely pathogenic g.120455859T>G g.120815805T>G 286-2A>C, - - TSPAN12_000083 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 146 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. 4i c.286-2A>G r.spl p.? Both (homozygous) - pathogenic g.120455859T>C - IVS4-2A>G - TSPAN12_000095 variant description assumes reference transcript intron numbering (not specified in paper) PubMed: Keser 2017 - - Germline yes - - - - DNA arraySNP, SEQ-NG - gene panel retinal disease NCRNA9 PubMed: Keser 2017 - - - Pakistan - - - - - 1 LOVD
+?/. 5 c.286-1G>T r.spl p.(?) Unknown - likely pathogenic g.120455858C>A g.120815804C>A TSPAN12 286-1G?>?T, - - TSPAN12_000082 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. 5 c.286-1G>T r.spl p.(?) Unknown - likely pathogenic g.120455858C>A g.120815804C>A TSPAN12 286-1G?>?T, - - TSPAN12_000082 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. 5 c.302T>A r.(?) p.(Leu101His) Paternal (confirmed) - likely pathogenic g.120455841A>T g.120815787A>T - - TSPAN12_000025 - PubMed: Poulter 2010 - - Germline yes 0/400 control chromosomes - - - DNA ? - direct sequencing EVR5, EVR;FEVR Family 4 II:1 PubMed: Poulter 2010 2 generation family, 2 affected M no United Kingdom (Great Britain) - - - - - 2 Jasmine Chen
+/. - c.308T>C r.(?) p.(Ile103Thr) Unknown - pathogenic g.120455835A>G g.120815781A>G - - TSPAN12_000067 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1491001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+/. - c.313T>C r.(?) p.(Cys105Arg) Parent #1 - likely pathogenic g.120455830A>G g.120815776A>G - - TSPAN12_000024 - PubMed: Yang 2011 - - Germline/De novo (untested) ? - - - - DNA SEQ - direct sequencing EVR5, EVR;FEVR Family 2 II:1 PubMed: Yang 2011 2 generation family, 1 affected M no China - - - - - 1 Jasmine Chen
+/. - c.315T>A r.(?) p.(Cys105Ter) Unknown - pathogenic g.120455828A>T g.120815774A>T - - TSPAN12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.334G>A r.(?) p.(Val112Ile) Unknown - pathogenic g.120455809C>T g.120815755C>T - - TSPAN12_000060 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam15 PubMed: Musada 2016 see paper - yes India - - - - - 1 LOVD
+/. 6 c.345T>G r.(?) p.(Tyr115*) Paternal (inferred) - pathogenic g.120455798A>C - c.345T>G - TSPAN12_000092 - PubMed: Rao 2017 - - Germline - - - - - DNA SEQ blood - retinal disease F15 PubMed: Rao 2017 - F - China - - - - - 1 LOVD
+/. 6 c.345T>G r.(?) p.(Tyr115*) Paternal (inferred) - pathogenic g.120455798A>C - c.345T>G - TSPAN12_000092 - PubMed: Rao 2017 - - Germline - - - - - DNA SEQ blood - retinal disease F15 PubMed: Rao 2017 - F - China - - - - - 1 LOVD
?/. 5 c.346G>A r.(?) p.(Glu116Lys) Parent #1 - VUS g.120455797C>T g.120815743C>T 954G>A - TSPAN12_000094 - PubMed: Zhang 2019 - - Germline/De novo (untested) ? 1/29 - - - DNA PCR - gene panel ROP Patient 9 PubMed: Zhang 2019 - F ? China - - - - - 1 Jasmine Chen
+?/. - c.352G>T r.(?) p.(Glu118*) Unknown - likely pathogenic g.120455791C>A g.120815737C>A 352G>T, Glu118X - TSPAN12_000090 - PubMed: Chen 2020 - - Germline yes - - - - DNA SEQ-NG blood custom genetic pediatric retinal disease panel (Tang et al., 2017) retinal disease 439 PubMed: Chen 2020 - ? - China - - - - - 1 LOVD
+/. - c.360+4A>G r.spl? p.(?) Unknown - pathogenic g.120455779T>C g.120815725T>C c.360+4T>C, p.? - TSPAN12_000081 error in annotation: c.360+4T>C instead of A>G, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13879 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
-/. - c.361-34C>T r.(=) p.(=) Unknown - benign g.120450658G>A g.120810604G>A - - TSPAN12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.361-15_361-9del r.(=) p.(=) Unknown - likely benign g.120450637_120450643del g.120810583_120810589del TSPAN12(NM_012338.3):c.361-15_361-9delGCTTTTT - TSPAN12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.361-5_361-1del r.spl p.? Unknown - likely pathogenic g.120450625_120450629del g.120810571_120810575del 361-1_361-5delACCAG - TSPAN12_000023 mutation removes splice acceptor site including consensus AG, possible outcomes of mutation: deletion of exon 6, retention of intron 5, activation of cryptic splice site PubMed: Poulter 2010 - - Germline/De novo (untested) - - - - - DNA ? - direct sequencing EVR5, EVR;FEVR Individual Patient 2 PubMed: Poulter 2010 Isolated individual F ? United Kingdom (Great Britain) - - - - - 1 Jasmine Chen
+?/. - c.361-2A>G r.spl p.(?) Both (homozygous) - likely pathogenic g.120450626T>C g.120810572T>C c.361-2A-->G; p.? - TSPAN12_000071 no Sanger sequencing; homozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - EVR5 273 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
-?/. - c.367G>C r.(?) p.(Val123Leu) Unknown - likely benign g.120450618C>G g.120810564C>G TSPAN12(NM_012338.3):c.367G>C (p.V123L), TSPAN12(NM_012338.4):c.367G>C (p.V123L) - TSPAN12_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367G>C r.(?) p.(Val123Leu) Unknown - likely benign g.120450618C>G - TSPAN12(NM_012338.3):c.367G>C (p.V123L), TSPAN12(NM_012338.4):c.367G>C (p.V123L) - TSPAN12_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.375G>A r.(?) p.(Trp125*) Unknown - pathogenic g.120450610C>T g.120810556C>T c.375C>T, p.(Trp125*) - TSPAN12_000080 error in annotation: c.375C>T instead of G>A, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 13323 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 6 c.413A>G r.(?) p.(Tyr138Cys) Paternal (confirmed) - pathogenic g.120450572T>C g.120810518T>C - - TSPAN12_000022 mild phenotype, heterozygous PubMed: Poulter 2012 - - Germline yes 0/500 control chromosomes - - - DNA PCR - direct sequencing EVR5, EVR;FEVR HMH IV:2 PubMed: Poulter 2012 5 generation family, 3 severely affected, 9 mildly affected, 2 phenocopy F no Mexico - - - - - 9 Jasmine Chen
+/. 6 c.413A>G r.(?) p.(Tyr138Cys) Both (homozygous) - pathogenic (recessive) g.120450572T>C g.120810518T>C - - TSPAN12_000022 - PubMed: Poulter 2012 - - Germline yes - - - - DNA PCR - direct sequencing EVR5, EVR;FEVR HMH V:7 PubMed: Poulter 2012 5 generation family, 3 severely affected, 2 mildly affected, 2 phenocopy M ? Mexico - - - - - 3 Jasmine Chen
+/. - c.419T>A r.(?) p.(Leu140*) Unknown - pathogenic g.120450566A>T g.120810512A>T - - TSPAN12_000015 - PubMed: Kondo 2011 - - De novo ? 0/380 control alleles - - - DNA PCR - direct sequencing EVR5, EVR;FEVR Family3PatII1 PubMed: Kondo 2011 2 generation family, 1 affected, isolated M no Japan - - - - vitrectomy 1 Jasmine Chen
+/. - c.419T>A r.(?) p.(Leu140*) Unknown - pathogenic (dominant) g.120450566A>T g.120810512A>T - - TSPAN12_000015 - PubMed: Kondo 2011 - - Germline yes - - - - DNA PCR, SEQ - direct sequencing EVR5, EVR;FEVR Fam4PatII1 PubMed: Kondo 2011 2 generation family, 2 affected (father/daughter) F no Japan - - - - vitrectomy 2 Jasmine Chen
+/. 6 c.419T>A r.(?) p.(Leu140*) Paternal (confirmed) - likely pathogenic (dominant) g.120450566A>T g.120810512A>T - - TSPAN12_000015 truncated protein (305 to 139 aa) PubMed: Poulter 2010 - - Germline yes - - - - DNA ? - - EVR5, EVR;FEVR Family 2 II:3 PubMed: Poulter 2010 proband, 2 generation family, 2 affected F no Japan - - - - - 2 Jasmine Chen
+/. - c.423delT r.(?) p.(Arg142Aspfs*21) Both (homozygous) - pathogenic g.120450562del g.120810508del 423del T - TSPAN12_000058 - PubMed: Keser 2017 - - Germline yes - - - - DNA arraySNP, SEQ-NG - gene panel retinal disease NCRNA17 PubMed: Keser 2017 - - - Pakistan - - - - - 1 LOVD
+/. 7 c.434G>A r.(?) p.(Trp145*) Maternal (confirmed) - pathogenic g.120450551C>T - c.434G>A:Trp145X - TSPAN12_000093 - PubMed: Chan 2016 - - Germline - - - - - DNA SEQ-NG - - retinal disease Case 2 PubMed: Chan 2016 - M - - - - - - - 1 LOVD
+/. - c.438dup r.(?) p.(Thr147Tyrfs*12) Parent #1 - pathogenic g.120450548dup g.120810494dup 438_439insT - TSPAN12_000052 - PubMed: Tang 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam50 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
+/. - c.440C>A r.(?) p.(Thr147Asn) Unknown - pathogenic g.120450545G>T g.120810491G>T - - TSPAN12_000066 - PubMed: Salvo 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 13766001 PubMed: Salvo 2015 family - - United States - - - - - 1 LOVD
+?/. - c.449G>C r.(?) p.(Trp150Ser) Unknown - likely pathogenic g.120450536C>G g.120810482C>G 53A>G, Asn18Ser - TSPAN12_000079 - PubMed: Chen 2019 - - Germline ? - - - - DNA SEQ-NG, SEQ blood paediatric disease gene panel retinal disease 287_II:1 PubMed: Chen 2019 proband, family 287, individual II:1 M no China - - - - - 1 LOVD
?/. - c.449G>C r.(?) p.(Trp150Ser) Unknown - VUS g.120450536C>G g.120810482C>G c.449C>G, p.(Trp150Ser) - TSPAN12_000079 error in annotation: c.449C>G instead of G>C, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14039 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. - c.461A>C r.(?) p.(Gln154Pro) Paternal (confirmed) - likely pathogenic g.120450524T>G g.120810470T>G 716T>C, Leu239Pro - TSPAN12_000078 - PubMed: Chen 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood paediatric disease gene panel retinal disease 362_II:1 PubMed: Chen 2019 proband, family 362, individual II:1 M no China - - - - - 2 LOVD
+?/. - c.461A>C r.(?) p.(Gln154Pro) Unknown - likely pathogenic g.120450524T>G g.120810470T>G 716T>C, Leu239Pro - TSPAN12_000078 - PubMed: Chen 2019 - - Germline yes - - - - DNA SEQ blood paediatric disease gene panel retinal disease 362_I:1 PubMed: Chen 2019 father, family 362, individual I:1 M no China - - - - - 1 LOVD
+?/. - c.461A>C r.(?) p.(Gln154Pro) Unknown - likely pathogenic g.120450524T>G g.120810470T>G c.461T>G, p.(Gln154Pro) - TSPAN12_000078 error in annotation: c.461T>G instead of A>C, heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14932 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. - c.464G>C r.(?) p.(Arg155Thr) Parent #1 - pathogenic g.120450521C>G g.120810467C>G - - TSPAN12_000051 - PubMed: Tang 2017 - rs768053082 Germline - - - - - DNA SEQ - - retinal disease Fam54 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
+/. - c.469-1G>A r.spl p.? Parent #1 - pathogenic g.120446747C>T g.120806693C>T - - TSPAN12_000050 - PubMed: Tang 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam46 PubMed: Tang 2017 - - - China - - - - - 1 LOVD
+?/. 6i c.469-1G>A r.spl p.(?) Unknown - likely pathogenic g.120446747C>T g.120806693C>T TSPAN12 469-1G?>?A, IVS6 ds G-A ?1 - TSPAN12_000050 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. 7 c.476G>A r.(?) p.(Cys159Tyr) Unknown - likely pathogenic g.120446739C>T g.120806685C>T TSPAN12 476G?>?A, Cys159Tyr - TSPAN12_000077 - PubMed: Wang 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG blood - retinal disease ? PubMed: Wang 2019 - - - China - - - - - 1 LOVD
+?/. - c.476G>A r.(?) p.(Cys159Tyr) Unknown - likely pathogenic g.120446739C>T g.120806685C>T c.476C>T, p.(Cys159Tyr) - TSPAN12_000077 error in annotation: c.476C>T instead of G>A, heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14493 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+/. 7 c.479G>A r.(?) p.(Cys160Tyr) Unknown - pathogenic g.120446736C>T g.120806682C>T - - TSPAN12_000059 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam11 PubMed: Musada 2016 see paper - yes India - - - - - 1 LOVD
+/. 7 c.479G>A r.(?) p.(Cys160Tyr) Unknown - pathogenic g.120446736C>T g.120806682C>T - - TSPAN12_000059 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam12 PubMed: Musada 2016 see paper - yes India - - - - - 1 LOVD
+/. 7 c.479G>A r.(?) p.(Cys160Tyr) Unknown - pathogenic g.120446736C>T g.120806682C>T - - TSPAN12_000059 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam13 PubMed: Musada 2016 see paper - - India - - - - - 1 LOVD
+/. 7 c.479G>A r.(?) p.(Cys160Tyr) Unknown - pathogenic g.120446736C>T g.120806682C>T - - TSPAN12_000059 - PubMed: Musada 2016 - - Germline - - - - - DNA SEQ - FZD4, LRP5, TSPAN12 retinal disease Fam14 PubMed: Musada 2016 see paper - yes India - - - - - 1 LOVD
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