Full data view for gene C8orf37

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_177965.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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.-173C>G r.(?) p.(=) Unknown - likely benign g.96281590G>C g.95269362G>C C8orf37(XM_005250799.1):c.92C>G (p.(Ser31Ter)) - C8orf37_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.10G>A r.(?) p.(Asp4Asn) Unknown - likely pathogenic (recessive) g.96281408C>T g.95269180C>T - - C8orf37_000026 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP101 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
+?/. - c.28_31del r.(?) p.(Asp10Lysfs*12) Both (homozygous) ACMG likely pathogenic g.96281389_96281392del g.95269161_95269164del C8orf37, c.28_31del, p.Asp10Lysfs*12, homozygous - C8orf37_000034 - PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-2995 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
?/. - c.37G>A r.(?) p.(Glu13Lys) Unknown - VUS g.96281381C>T g.95269153C>T - - C8orf37_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs758143646 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.55C>G r.(?) p.(Pro19Ala) Unknown - VUS g.96281363G>C g.95269135G>C - - C8orf37_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs36096184 Germline - 8/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
-?/. - c.55C>G r.(?) p.(Pro19Ala) Unknown - likely benign g.96281363G>C g.95269135G>C C8orf37(NM_177965.3):c.55C>G (p.(Pro19Ala)) - C8orf37_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58G>A r.(?) p.(Asp20Asn) Unknown - VUS g.96281360C>T g.95269132C>T - - C8orf37_000013 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-?/. - c.77T>G r.(?) p.(Met26Arg) Unknown - likely benign g.96281341A>C g.95269113A>C CFAP418(NM_177965.4):c.77T>G (p.M26R) - C8orf37_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.126G>C r.(?) p.(Arg42=) Unknown - benign g.96281292C>G g.95269064C>G C8orf37(NM_177965.3):c.126G>C (p.R42=), CFAP418(NM_177965.4):c.126G>C (p.R42=) - C8orf37_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.126G>C r.(?) p.(Arg42=) Unknown - likely benign g.96281292C>G g.95269064C>G C8orf37(NM_177965.3):c.126G>C (p.R42=), CFAP418(NM_177965.4):c.126G>C (p.R42=) - C8orf37_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155+1A>G r.spl p.? Unknown ACMG pathogenic g.96281262T>C - - - C8orf37_000023 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.155+2T>C r.spl? p.? Unknown - pathogenic g.96281261A>G g.95269033A>G CFAP418(NM_177965.4):c.155+2T>C - C8orf37_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155+2T>C r.74_155del p.Gly25Aspfs*32) Both (homozygous) - pathogenic (recessive) g.96281261A>G g.95269033A>G - - C8orf37_000008 - PubMed: Rahner 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease patient PubMed: Rahner 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Morocco - - - - - 2 Johan den Dunnen
+/. - c.155+2T>C r.spl? p.? Unknown - pathogenic g.96281261A>G - CFAP418(NM_177965.4):c.155+2T>C - C8orf37_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155+5A>T r.spl p.? Unknown ACMG VUS g.96281258T>A g.95269030T>A C8orf37 c.155+5A>T, p.? - C8orf37_000038 heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 27_31 PubMed: Zhu 2022 family 27, individual 31 M - - - - - - - 1 LOVD
-?/. - c.155+8G>A r.(=) p.(=) Unknown - likely benign g.96281255C>T g.95269027C>T C8orf37(NM_177965.3):c.155+8G>A - C8orf37_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155+20T>G r.(=) p.(=) Unknown - likely benign g.96281243A>C - CFAP418(NM_177965.4):c.155+20T>G - C8orf37_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.156-3C>A r.spl p.? Both (homozygous) ACMG VUS g.96276005G>T g.95263777G>T - - C8orf37_000042 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073388 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/+ 1i c.156-2A>G r.spl p.? Paternal (inferred) - pathogenic g.96276004T>C g.95263776T>C - - C8orf37_000002 predicted to be pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ - - CORD - - - - yes - - - - - - 1 Kornelia Neveling
+/+ 1i c.156-2A>G r.spl p.? Maternal (inferred) - pathogenic g.96276004T>C g.95263776T>C - - C8orf37_000002 predicted to be pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ - - CORD - - - - yes - - - - - - 1 Kornelia Neveling
+/. - c.156-2A>G r.spl? p.? Unknown - pathogenic g.96276004T>C g.95263776T>C - - C8orf37_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.156-1G>T r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.96276003C>A g.95263775C>A C8orf37, c.156-1G>T, p.?, Triallelism - C8orf37_000033 - PubMed: Perea-Romero 2021 - - Unknown ? - - - - DNA ? - clinical exome sequencing retinal disease RP-2966 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. 2 c.172A>T r.(?) p.(Lys58*) Unknown ACMG pathogenic g.96275986T>A g.95263758T>A NM_177965.3:c.172A>T, NP_808880.1:p.(Lys58Ter), NC_000008.10:g.96275986T>A - C8orf37_000030 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101725 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 2 c.172A>T r.(?) p.(Lys58*) Unknown - likely pathogenic (recessive) g.96275986T>A - c.172A>T - C8orf37_000030 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
?/. - c.180_182del r.(?) p.(Glu60del) Unknown - VUS g.96275980_96275982del - C8orf37(NM_177965.4):c.180_182del (p.(Glu60del)) - C8orf37_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.243+2T>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.96275913A>G - - - C8orf37_000024 - PubMed: Jinda 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease RP038 PubMed: Jinda 2014 - M - Thailand - - - - - 1 Johan den Dunnen
+?/. - c.243+2T>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.96275913A>G g.95263685A>G - - C8orf37_000024 - PubMed: Jinda 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP038 PubMed: Jinda 2017 patient - - Thailand - - - - - 1 LOVD
?/. - c.243+3A>C r.spl? p.? Both (homozygous) - VUS g.96275912T>G - - - C8orf37_000029 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG-I - - retinal disease 4 PubMed: Wang 2014 - F ? United States - - - - - 1 Stéphanie Cornelis
-?/. - c.243+20T>C r.(=) p.(=) Unknown - likely benign g.96275895A>G - C8orf37(NM_177965.4):c.243+20T>C - C8orf37_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.244-2A>C r.(244_265del) p.(Lys82Valfs*45) Both (homozygous) - pathogenic (recessive) g.96272762T>G g.95260534T>G - - C8orf37_000022 effect on splicing predicted from expression cloning minigene construct PubMed: Ravesh 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease FamMA48 PubMed: Ravesh 2015 5-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 3 Johan den Dunnen
?/. - c.269A>G r.(?) p.(Asn90Ser) Unknown - VUS g.96272735T>C g.95260507T>C - - C8orf37_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199731969 Germline - 18/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 18 Yoshito Koyanagi
?/. - c.269A>G r.(?) p.(Asn90Ser) Unknown - VUS g.96272735T>C g.95260507T>C C8orf37(NM_177965.3):c.269A>G (p.N90S), CFAP418(NM_177965.4):c.269A>G (p.N90S) - C8orf37_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269A>G r.(?) p.(Asn90Ser) Unknown - VUS g.96272735T>C g.95260507T>C C8orf37(NM_177965.3):c.269A>G (p.N90S), CFAP418(NM_177965.4):c.269A>G (p.N90S) - C8orf37_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.269A>G r.(?) p.(Asn90Ser) Unknown - VUS g.96272735T>C g.95260507T>C - - C8orf37_000012 - PubMed: Xu 2014 - rs199731969 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP229 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. 3 c.269A>G r.(?) p.(Asn90Ser) Unknown - VUS g.96272735T>C g.95260507T>C A269G - C8orf37_000012 - PubMed: Katagiri 2014 - rs199731969 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#025 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. 3 c.269A>G r.(?) p.(Asn90Ser) Unknown - VUS g.96272735T>C g.95260507T>C A269G - C8orf37_000012 - PubMed: Katagiri 2014 - rs199731969 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#027 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.290T>C r.(?) p.(Ile97Thr) Unknown - VUS g.96272714A>G g.95260486A>G - - C8orf37_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.304A>T r.(?) p.(Lys102*) Both (homozygous) - pathogenic (recessive) g.96272700T>A g.95260472T>A - - C8orf37_000021 - PubMed: Heon 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease patient PubMed: Heon 2016 - F yes Canada white - - - - 1 Johan den Dunnen
+?/. - c.374+1G>C r.spl p.(?) Both (homozygous) ACMG likely pathogenic g.96272067C>G g.95259839C>G - - C8orf37_000036 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070527 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.374+2T>C r.spl p.? Maternal (confirmed) - pathogenic (recessive) g.96272066A>G g.95259838A>G - - C8orf37_000020 - PubMed: Katagiri 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease family PubMed: Katagiri 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Japan - - - - - 2 Johan den Dunnen
-?/. - c.375-16T>A r.(=) p.(=) Unknown - likely benign g.96264527A>T - C8orf37(NM_177965.4):c.375-16T>A - C8orf37_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.392G>A r.(?) p.(Arg131His) Parent #2 - pathogenic (recessive) g.96264494C>T g.95252266C>T - - C8orf37_000028 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-098-246 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.436A>C r.(?) p.(Met146Leu) Parent #1 - pathogenic (recessive) g.96264450T>G g.95252222T>G - - C8orf37_000027 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-098-246 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.470+1G>A r.spl p.(?) Both (homozygous) ACMG pathogenic g.96264415C>T g.95252187C>T C8orf37:NM_177965 c.470+1G>A, p.? - C8orf37_000031 homozygous, individual solved, variant causal PubMed: Rodriguez-Munoz 2020 - - Germline yes - - - - DNA SEQ-NG-I blood - retinal disease RP-506 PubMed: Rodriguez-Munoz 2020 family fRPN-GG, proband F - Spain - - - - - 1 LOVD
+?/. - c.470+1G>T r.(?) p.(?) Both (homozygous) - likely pathogenic g.96264415C>A g.95252187C>A C8ORF37 c.[470 + 1G > T];[470 + 1G > T], - - C8orf37_000032 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F9_IV.4 PubMed: Habibi 2020 Family F9, patient IV.4 M - Tunisia - - - - - 1 LOVD
+?/. - c.470+1G>T r.(?) p.(?) Both (homozygous) - likely pathogenic g.96264415C>A g.95252187C>A C8ORF37 c.[470 + 1G > T];[470 + 1G > T], - - C8orf37_000032 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F9_IV.6 PubMed: Habibi 2020 Family F9, patient IV.6 F - Tunisia - - - - - 1 LOVD
+?/. - c.470+1G>T r.(?) p.(?) Both (homozygous) - likely pathogenic g.96264415C>A g.95252187C>A C8ORF37 c.[470 + 1G > T];[470 + 1G > T], - - C8orf37_000032 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F9_IV.2 PubMed: Habibi 2020 Family F9, patient IV.2 M - Tunisia - - - - - 1 LOVD
+/+ 6 c.497T>A r.(?) p.(Leu166*) Paternal (inferred) - pathogenic g.96259972A>T g.95247744A>T - - C8orf37_000001 predicted to be pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ-NG-R - - retinal disease - PubMed: Estrada-Cuzcano A - M yes - - - - - - 1 Kornelia Neveling
+/+ 6 c.497T>A r.(?) p.(Leu166*) Maternal (inferred) - pathogenic g.96259972A>T g.95247744A>T - - C8orf37_000001 predicted to be pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ-NG-R - - retinal disease - PubMed: Estrada-Cuzcano A - M yes - - - - - - 1 Kornelia Neveling
+/. - c.497T>A r.(?) p.(Leu166Ter) Unknown - pathogenic g.96259972A>T g.95247744A>T CFAP418(NM_177965.4):c.497T>A (p.L166*) - C8orf37_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.515dup r.(?) p.(Lys173Glufs*12) Both (homozygous) - likely pathogenic g.96259954dup - c.515dup - C8orf37_000039 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.521A>G r.(?) p.(Lys174Arg) Unknown - VUS g.96259948T>C g.95247720T>C CFAP418(NM_177965.4):c.521A>G (p.K174R) - C8orf37_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.528A>G r.(?) p.(Thr176=) Unknown - benign g.96259941T>C g.95247713T>C C8orf37(NM_177965.3):c.528A>G (p.T176=), C8orf37(NM_177965.4):c.528A>G (p.T176=), CFAP418(NM_177965.4):c.528A>G (p.T176=) - C8orf37_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528A>G r.(?) p.(Thr176=) Unknown - likely benign g.96259941T>C g.95247713T>C C8orf37(NM_177965.3):c.528A>G (p.T176=), C8orf37(NM_177965.4):c.528A>G (p.T176=), CFAP418(NM_177965.4):c.528A>G (p.T176=) - C8orf37_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.528A>G r.(?) p.(Thr176=) Unknown - likely benign g.96259941T>C - C8orf37(NM_177965.3):c.528A>G (p.T176=), C8orf37(NM_177965.4):c.528A>G (p.T176=), CFAP418(NM_177965.4):c.528A>G (p.T176=) - C8orf37_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 6 c.529C>T r.(?) p.(Arg177Trp) Paternal (inferred) - likely pathogenic g.96259940G>A g.95247712G>A - - C8orf37_000003 probably pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ - - CORD - - - - yes - - - - - - 1 Kornelia Neveling
+/+ 6 c.529C>T r.(?) p.(Arg177Trp) Maternal (inferred) - pathogenic g.96259940G>A g.95247712G>A - - C8orf37_000003 probably pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ - - CORD - - - - yes - - - - - - 1 Kornelia Neveling
+?/. 6 c.529C>T r.(?) p.(Arg177Trp) Both (homozygous) - likely pathogenic (recessive) g.96259940G>A g.95247712G>A - - C8orf37_000003 - PubMed: Sharon 2015, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease MOL0858 PubMed: Sharon 2015, PubMed: Sharon 2019 family M yes Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.529C>T r.(?) p.(Arg177Trp) Both (homozygous) - pathogenic (recessive) g.96259940G>A g.95247712G>A - - C8orf37_000003 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease patient PubMed: Khan 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.529C>T r.(?) p.(Arg177Trp) Both (homozygous) - pathogenic (recessive) g.96259940G>A g.95247712G>A - - C8orf37_000003 - PubMed: Lazar 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease MOL0858 PubMed: Lazar 2015 2-generation family, 3 affected (F, M) F;M - Israel Arab Muslim - - - - 2 Global Variome, with Curator vacancy
+?/. - c.529C>T r.(?) p.(Arg177Trp) Unknown - likely pathogenic g.96259940G>A g.95247712G>A - - C8orf37_000003 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG0622 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.529C>T r.(?) p.(Arg177Trp) Unknown - likely pathogenic g.96259940G>A g.95247712G>A - - C8orf37_000003 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1769 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.529C>T r.(?) p.(Arg177Trp) Unknown - likely pathogenic g.96259940G>A g.95247712G>A - - C8orf37_000003 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0138 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 6 c.529C>T r.(?) p.(Arg177Trp) Unknown ACMG pathogenic g.96259940G>A g.95247712G>A NM_177965.3:c.529C>T, NP_808880.1:p.(Arg177Trp), NC_000008.10:g.96259940G>A - C8orf37_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016101725 PubMed: Wang 2018 - F ? China Han Chinese - - - - 1 LOVD
+?/. 6 c.529C>T r.(?) p.(Arg177Trp) Unknown - likely pathogenic (recessive) g.96259940G>A - c.529C>T - C8orf37_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.533C>T r.(?) p.(Ala178Val) Parent #1 - likely pathogenic g.96259936G>A g.95247708G>A - - C8orf37_000019 - PubMed: Khan 2016 - rs375314973 Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat501 PubMed: Khan 2016 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 8 Johan den Dunnen
+?/. - c.533C>T r.(?) p.(Ala178Val) Parent #1 - likely pathogenic g.96259936G>A g.95247708G>A - - C8orf37_000019 - PubMed: Khan 2016 - rs375314973 Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat502 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.533C>T r.(?) p.(Ala178Val) Parent #1 - likely pathogenic g.96259936G>A g.95247708G>A - - C8orf37_000019 - PubMed: Khan 2016 - rs375314973 Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat503 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.533C>T r.(?) p.(Ala178Val) Parent #1 - likely pathogenic g.96259936G>A g.95247708G>A - - C8orf37_000019 - PubMed: Khan 2016 - rs375314973 Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat507 PubMed: Khan 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.536A>G r.(?) p.(Tyr179Cys) Both (homozygous) - likely pathogenic g.96259933T>C g.95247705T>C - - C8orf37_000025 - PubMed: Huang 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP-109 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
+?/+? 6 c.545A>G r.(?) p.(Gln182Arg) Paternal (inferred) - likely pathogenic g.96259924T>C g.95247696T>C - - C8orf37_000004 probably pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ - - retinal disease - - - F yes - - - - - - 1 Kornelia Neveling
+?/+? 6 c.545A>G r.(?) p.(Gln182Arg) Maternal (inferred) - likely pathogenic g.96259924T>C g.95247696T>C - - C8orf37_000004 probably pathogenic PubMed: Estrada-Cuzcano 2012 - - Germline yes - - - - DNA SEQ - - retinal disease - - - F yes - - - - - - 1 Kornelia Neveling
+?/. 6 c.545A>G r.(?) p.(Gln182Arg) Both (homozygous) - likely pathogenic g.96259924T>C g.95247696T>C - - C8orf37_000004 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2/2420 IRD families F yes Israel Druze - - - - 3 Dror Sharon
+/. - c.555G>A r.(?) p.(Trp185*) Both (homozygous) - pathogenic (recessive) g.96259914C>T - - - C8orf37_000017 - PubMed: Chen 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease FamAPatVI2 PubMed: Chen 2018 6-generation family, affected father/daughter/son, unaffected heterozygous carrier parents F - China - - - - - 3 Johan den Dunnen
+/. - c.555G>A r.(?) p.(Trp185*) Paternal (inferred) - pathogenic (recessive) g.96259914C>T - - - C8orf37_000017 - PubMed: Chen 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease FamAPatVI3 PubMed: Chen 2018 son M yes China - - - - - 1 Johan den Dunnen
+/. - c.555G>A r.(?) P.(Trp185*) Both (homozygous) - pathogenic (recessive) g.96259914C>T g.95247686C>T - - C8orf37_000017 - PubMed: Ravesh 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease FamMA13 PubMed: Ravesh 2015 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.575del r.(?) p.(Thr192Metfs*29) Paternal (inferred) - pathogenic (recessive) g.96259894del - 575delC - C8orf37_000018 - PubMed: Katagiri 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease family PubMed: Katagiri 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M no Japan - - - - - 2 Johan den Dunnen
Legend   How to query  


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