Full data view for gene C2orf71

NOTE: gene symbol was recently changed from C2orf71 to PCARE. This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001029883.2 transcript reference sequence.

475 entries on 5 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     
?/. - c.-32784054_*1687327dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Both (homozygous) - pathogenic g.? - I210F - SNRNP200_000007 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-0622PatII1 PubMed: Sanchez-Alcudia 2014 3-generation family, affect aunt/nephew M - Spain - - - - - 2 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - p.C2orf71-571_P576del - SNRNP200_000007 Mother healthy heterozygous carrier PubMed: Schorderet-2013 - - Germline - - - - - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - - - - 1 LOVD
-?/. - c.? r.(?) p.(Asn12Thrfs*11) Unknown - likely benign g.? - p.Arg346fs - SNRNP200_000007 - PubMed: Bhatia 2019 - - Germline no - - - - DNA SEQ-NG, SEQ blood - retinal disease IV:1 PubMed: Bhatia 2019 - F yes - India - - - - 1 LOVD
-?/. 2 c.? r.(?) p.? Unknown - likely benign g.29282400_29282401insGCT - c.C9201_G9202insAGC - SNRNP200_000007 Position is outside of the sequence range PubMed: Borràs 2013 - - Germline no n/a - - - DNA SEQ-NG, SEQ blood - retinal disease RP-95 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
-?/. 2 c.? r.(?) p.? Unknown - likely benign g.29282400_29282401insGCT - c.C9201_G9202insAGC - SNRNP200_000007 Position is outside of the sequence range PubMed: Borràs 2013 - - Germline no n/a - - - DNA SEQ-NG, SEQ blood - retinal disease RP-83 PubMed: Borràs 2013 - - - Spain Spanish - - - - 1 LOVD
?/. - c.{2} r.? p.? Unknown - VUS g.(?_27600408)_(62081181_?)dup - 27600408–62081181dup - FAM161A_000000 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 13009597 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. 1 c.8G>A r.(?) p.(Cys3Tyr) Both (homozygous) - VUS g.29297120C>T - c.8G>A - C2orf71_000190 - PubMed: Colombo-2020 - rs1420546201 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
?/. 1 c.8G>A r.(?) p.(Cys3Tyr) Both (homozygous) - VUS g.29297120C>T - c.8G>A - C2orf71_000190 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
-?/. - c.37A>T r.(?) p.(Ser13Cys) Unknown - likely benign g.29297091T>A g.29074225T>A C2orf71(NM_001029883.2):c.37A>T (p.(Ser13Cys)) - C2orf71_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.37A>T r.(?) p.(Ser13Cys) Unknown - benign g.29297091T>A - c.37A>T - C2orf71_000122 - PubMed: Audo 2011 - rs10084168 Unknown - 15 /418 patient chromosomes - - - - - - - - - - - - - - - - - - - - -
-/. - c.60G>A r.(?) p.(Gln20=) Unknown - benign g.29297068C>T g.29074202C>T - - C2orf71_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.60G>A r.(=) p.(=) Unknown - benign g.29297068C>T - c.60G>A - C2orf71_000059 - PubMed: Audo 2011 - rs35929540 Unknown - 120/418 patient chromosomes - - - - - - - - - - - - - - - - - - - - -
+/. - c.85C>T r.(?) p.(Arg29Trp) Unknown - pathogenic g.29297043G>A g.29074177G>A - - C2orf71_000095 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs201706430 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+?/. - c.85C>T r.(?) p.(Arg29Trp) Unknown - likely pathogenic (recessive) g.29297043G>A g.29074177G>A - - C2orf71_000095 - PubMed: Xu 2014 - rs201706430 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP276 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. 1 c.85C>T r.(?) p.(Arg29Trp) Unknown - VUS g.29297043G>A g.29074177G>A C85T - C2orf71_000095 - PubMed: Katagiri 2014 - rs201706430 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#011 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+?/. 1 c.85C>T r.(?) p.(Arg29Trp) Unknown - likely pathogenic g.29297043G>A g.29074177G>A C85T - C2orf71_000095 - PubMed: Katagiri 2014 - rs201706430 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. 1 c.85C>T r.(?) p.(Arg29Trp) Unknown ACMG VUS g.29297043G>A g.29074177G>A c.85C>T - C2orf71_000095 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs201706430 Germline no - - - - DNA SEQ, SEQ-NG blood Targeted next-generation sequencing LCA6 EYE149 PubMed: Hosono 2018, Torii 2023, submitted proband, family EYE149 M no Japan Japanese - - - - 1 Kaoruko Torii
?/. - c.100G>A r.(?) p.(Gly34Ser) Unknown - VUS g.29297028C>T g.29074162C>T - - C2orf71_000094 - 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.102C>T r.(?) p.(Gly34=) Unknown - benign g.29297026G>A g.29074160G>A PCARE(NM_001029883.3):c.102C>T (p.G34=) - C2orf71_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.103G>A r.(?) p.(Gly35Arg) Unknown - VUS g.29297025C>T - PCARE(NM_001029883.2):c.103G>A (p.G35R) - C2orf71_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.184C>G r.(?) p.(Pro62Ala) Unknown - VUS g.29296944G>C g.29074078G>C - - C2orf71_000169 - PubMed: Wang 2014 - rs76346220 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 59 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
-?/. - c.220C>G r.(?) p.(Leu74Val) Unknown - likely benign g.29296908G>C g.29074042G>C C2orf71(NM_001029883.2):c.220C>G (p.(Leu74Val)) - C2orf71_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.239A>G r.(?) p.(Asp80Gly) Unknown - VUS g.29296889T>C g.29074023T>C - - C2orf71_000163 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP305 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
-/. - c.258G>A r.(?) p.(Arg86=) Unknown - benign g.29296870C>T g.29074004C>T - - C2orf71_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.258G>A r.(=) p.(=) Unknown - benign g.29296870C>T - c.258G>A - C2orf71_000058 - PubMed: Audo 2011 - rs62132765 Unknown - 120/418 patient chromosomes - - - - - - - - - - - - - - - - - - - - -
?/. - c.358G>C r.(?) p.(Gly120Arg) Unknown - VUS g.29296770C>G g.29073904C>G - - C2orf71_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140625913 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
?/. - c.358G>C r.(?) p.(Gly120Arg) Both (homozygous) - VUS g.29296770C>G g.29073904C>G - - C2orf71_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140625913 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
-/. 1 c.366T>C r.(=) p.(=) Unknown - benign g.29296762A>G - c.366C>T - C2orf71_000213 - PubMed: Audo 2011 - rs17007546 Unknown - 1/418 patient chromosomes - - - - - - - - - - - - - - - - - - - - -
-?/. - c.396T>C r.(?) p.(Asp132=) Unknown - likely benign g.29296732A>G g.29073866A>G C2orf71(NM_001029883.2):c.396T>C (p.D132=) - C2orf71_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.402_405del r.(?) p.(Ser134Argfs*47) Parent #2 - likely pathogenic (recessive) g.29296723_29296726del - c.402_405del - C2orf71_000212 - PubMed: Gerth Kahlert 2017 - - Unknown ? - - - - DNA SEQ-NG, SEQ - - retinal disease Fam6- 8 PubMed: Gerth Kahlert 2017 - M - - Caucasian - - - - 1 LOVD
?/. - c.403G>A r.(?) p.(Glu135Lys) Unknown - VUS g.29296725C>T g.29073859C>T PCARE(NM_001029883.2):c.403G>A (p.E135K), PCARE(NM_001029883.3):c.403G>A (p.E135K) - C2orf71_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403G>A r.(?) p.(Glu135Lys) Unknown - VUS g.29296725C>T - PCARE(NM_001029883.2):c.403G>A (p.E135K), PCARE(NM_001029883.3):c.403G>A (p.E135K) - C2orf71_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.403G>T r.(?) p.(Glu135*) Both (homozygous) - pathogenic (recessive) g.29296725C>A g.29073859C>A - - C2orf71_000139 - PubMed: Bocquet 2013 - - Germline - - - - - DNA SEQ - - retinal disease RP1013 PubMed: Bocquet 2013 2-generation family, 1 affected F yes France - - - - - 1 Johan den Dunnen
+/. - c.403G>T r.(?) p.(Glu135*) Both (homozygous) - pathogenic g.29296725C>A - c.403G>T - C2orf71_000139 - PubMed: Bocquet-2013 - - Germline - - - - - DNA PCR blood - retinal disease - PubMed: Bocquet-2013 - - yes France - - - - - 1 LOVD
+/. - c.407A>G r.(?) p.(Glu136Gly) Unknown - pathogenic g.29296721T>C g.29073855T>C - - C2orf71_000092 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs761117759 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+?/. - c.407A>G r.(?) p.(Glu136Gly) Unknown - likely pathogenic (recessive) g.29296721T>C g.29073855T>C - - C2orf71_000092 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP109 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.407A>G r.(?) p.(Glu136Gly) Unknown - VUS g.29296721T>C g.29073855T>C - - C2orf71_000092 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP377 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+?/. 1 c.418del r.(?) p.(Gln140LysfsTer42) Parent #1 ACMG likely pathogenic g.29296712del g.29073846del - - C2orf71_000232 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 080620 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
?/. - c.428C>T r.(?) p.(Ser143Phe) Unknown - VUS g.29296700G>A g.29073834G>A C2orf71(NM_001029883.2):c.428C>T (p.S143F) - C2orf71_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462A>G r.(?) p.(Ser154=) Unknown - likely benign g.29296666T>C g.29073800T>C C2orf71(NM_001029883.2):c.462A>G (p.S154=) - C2orf71_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.478_479insA r.(?) p.(Cys160*) Both (homozygous) - pathogenic g.29296648insA - - - C2orf71_000061 Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - M yes Israel Arab Christian - - - - 1 Dror Sharon
+/. - c.478_479insA r.(?) p.(Cys160*) Unknown ACMG pathogenic g.29296649_29296650insT - - - C2orf71_000061 - 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.478_479insA r.(?) p.(Cys160*) Parent #1 - likely pathogenic g.29296649_29296650insT g.29073783_29073784insT PCARE, variant 1: c.478_479insA/p.C160* , variant 2: c.478_479insA/p.C160* - C2orf71_000061 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1071 PubMed: Weisschuh 2020 Filing key number: 686, cone-rod dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. 1 c.478_479insA r.(?) p.(Cys160*) Both (homozygous) - pathogenic (recessive) g.29296649_29296650insT - c.478_479insA - C2orf71_000061 - PubMed: Gerth Kahlert 2017 - - Unknown yes - - - - DNA SEQ-NG, SEQ - - retinal disease Fam11- 13 PubMed: Gerth Kahlert 2017 - F yes - N/A - - - - 1 LOVD
?/. - c.500C>T r.(?) p.(Ala167Val) Unknown - VUS g.29296628G>A g.29073762G>A C2orf71(NM_001029883.2):c.500C>T (p.A167V) - C2orf71_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530C>T r.(?) p.(Pro177Leu) Parent #1 - VUS g.29296598G>A g.29073732G>A - - C2orf71_000130 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs190791051 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.530C>T r.(?) p.(Pro177Leu) Unknown - VUS g.29296598G>A - PCARE(NM_001029883.2):c.530C>T (p.P177L), PCARE(NM_001029883.3):c.530C>T (p.(Pro177Leu)) - C2orf71_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.530C>T r.(?) p.(Pro177Leu) Unknown - VUS g.29296598G>A - PCARE(NM_001029883.2):c.530C>T (p.P177L), PCARE(NM_001029883.3):c.530C>T (p.(Pro177Leu)) - C2orf71_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531G>A r.(?) p.(Pro177=) Unknown - likely benign g.29296597C>T g.29073731C>T PCARE(NM_001029883.2):c.531G>A (p.P177=) - C2orf71_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.537T>C r.(?) p.(Pro179=) Unknown - likely benign g.29296591A>G - PCARE(NM_001029883.2):c.537T>C (p.P179=) - C2orf71_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.556C>T r.(?) p.(Gln186*) Paternal (inferred) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Maternal (confirmed) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Paternal (inferred) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Maternal (confirmed) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Paternal (inferred) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Maternal (confirmed) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - M yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Paternal (confirmed) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - F yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Maternal (confirmed) - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - - F yes Israel Arab, muslim - - - - 1 Johan den Dunnen
+/. 1 c.556C>T r.(?) p.(Gln186*) Parent #1 - pathogenic g.29296572G>A g.29073706G>A - - C2orf71_000004 homozygosity mapping; not in 286 control chromosomes PubMed: Collin 2010 - - Germline - - - - - DNA SEQ - - Healthy/Control - - 5 unaffected heterozygous carriers ? yes Israel Arab, muslim - - - - 5 Johan den Dunnen
+/. - c.556C>T r.(?) p.(Gln186*) Unknown ACMG pathogenic g.29296572G>A - - - C2orf71_000004 - 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
+/. 1 c.601A>T r.(?) p.(Ile201Phe) Paternal (confirmed) - pathogenic g.29296527T>A g.29073661T>A - - C2orf71_000007 not in 384 control chromosomes PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 4-generation family, 1 affected - yes Spain - - - - - 1 Johan den Dunnen
+/. 1 c.601A>T r.(?) p.(Ile201Phe) Maternal (confirmed) - pathogenic g.29296527T>A g.29073661T>A - - C2orf71_000007 not in 384 control chromosomes PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 4-generation family, 1 affected - yes Spain - - - - - 1 Johan den Dunnen
+/. 1 c.601A>T r.(?) p.(Ile201Phe) Parent #1 - pathogenic g.29296527T>A g.29073661T>A - - C2orf71_000007 not in 384 control chromosomes; homozygous carrier BBS1:M390R PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - RPar - - 4-generation family, unaffected heterozygous RP carrier with BBS - - Spain - - - - - 1 Johan den Dunnen
+/. 1 c.601A>T r.(?) p.(Ile201Phe) Parent #1 - pathogenic g.29296527T>A g.29073661T>A - - C2orf71_000007 not in 384 control chromosomes PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 4-generation family, 3 unaffected heterozygous carriers - yes Spain - - - - - 3 Johan den Dunnen
?/. - c.668T>C r.(?) p.(Leu223Pro) Unknown - VUS g.29296460A>G g.29073594A>G - - C2orf71_000091 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs771726446 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
-?/. - c.679G>A r.(?) p.(Glu227Lys) Unknown - likely benign g.29296449C>T g.29073583C>T C2orf71(NM_001029883.2):c.679G>A (p.(Glu227Lys)) - C2orf71_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.679G>A r.(?) p.(Glu227Lys) Unknown - likely benign g.29296449C>T - c.679G>A - C2orf71_000117 - PubMed: Audo 2011 - - Unknown no 5/418 patient chromosomes; 0/190 control chromosomes - - - - - - - - - - - - - - - - - - - - -
+?/. - c.707T>G r.(?) p.(Ile236Ser) Unknown ACMG likely pathogenic g.29296421A>C - - - C2orf71_000138 - 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
+/. 1 c.712A>T r.(?) p.(Lys238Ter) Both (homozygous) - pathogenic (recessive) g.29296416T>A g.29073550T>A - - C2orf71_000157 - PubMed: Beheshtian 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease 9300046/I-40320 PubMed: Beheshtian 2015 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes Iran - - - - - 2 LOVD
?/. 1 c.728T>C r.(?) p.(Leu243Pro) Parent #1 - VUS g.29296400A>G - c.728T>C - C2orf71_000223 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
?/. - c.740T>A r.(?) p.(Val247Asp) Unknown - VUS g.29296388A>T g.29073522A>T PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D) - C2orf71_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740T>A r.(?) p.(Val247Asp) Unknown - VUS g.29296388A>T g.29073522A>T PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D) - C2orf71_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.740T>A r.(?) p.(Val247Asp) Unknown - VUS g.29296388A>T - PCARE(NM_001029883.2):c.740T>A (p.V247D), PCARE(NM_001029883.3):c.740T>A (p.V247D) - C2orf71_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.740T>C r.(?) p.(Val247Ala) Unknown - benign g.29296388A>G - c.740T>T - C2orf71_000211 - PubMed: Audo 2011 - rs77828062 Unknown - 1/418 patient chromosomes; 0/190 control chromosomes - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.755C>A r.(?) p.(Ala252Asp) Parent #1 - VUS g.29296373G>T g.29073507G>T - - C2orf71_000010 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 1 c.755C>A r.(?) p.(Ala252Asp) Unknown - benign g.29296373G>T - c.755C>A - C2orf71_000010 - PubMed: Audo 2011 - rs29149877 Unknown - 10/418 patient chromosomes; 1/190 control chromosomes - - - - - - - - - - - - - - - - - - - - -
+/. - c.758G>A r.(?) p.(Trp253*) Both (homozygous) - pathogenic (recessive) g.29296370C>T - 2:29296370C>T ENST00000331664.5:c.758G>A (Trp253Ter) - C2orf71_000142 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G000983 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.758G>A r.(?) p.(Trp253*) Both (homozygous) - pathogenic g.29296370C>T g.29073504C>T C2orf71 c.758G>A, p.Trp253Ter - C2orf71_000142 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G000983 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 1 c.759G>A r.(?) p.(Trp253*) Paternal (confirmed) - pathogenic g.29296369C>T g.29073503C>T W253X - C2orf71_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 4-generation family, 8 affected - yes - - - - - - 8 Johan den Dunnen
+/. 1 c.759G>A r.(?) p.(Trp253*) Maternal (confirmed) - pathogenic g.29296369C>T g.29073503C>T W253X - C2orf71_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - retinal disease - - 4-generation family, 8 affected - yes - - - - - - 8 Johan den Dunnen
+/. 1 c.759G>A r.(?) p.(Trp253*) Parent #1 - pathogenic g.29296369C>T g.29073503C>T W253X - C2orf71_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Nishimura 2010 - - Germline - - - - - DNA SEQ - - Healthy/Control - - 4-generation family, unaffected carriers - yes - - - - - - 1 Johan den Dunnen
+?/. - c.769A>T r.(?) p.(Lys257Ter) Unknown - likely pathogenic (recessive) g.29296359T>A g.29073493T>A - - C2orf71_000162 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP301 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+/. 1 c.769A>T r.(?) p.(Lys257*) Both (homozygous) - pathogenic g.29296359T>A - c.769A>T - C2orf71_000162 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
+/. 1 c.769A>T r.(?) p.(Lys257*) Both (homozygous) - pathogenic g.29296359T>A - c.769A>T - C2orf71_000162 - PubMed: Fu-2013 - - Germline - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Fu-2013 - M - China Chinese - - - - 2 LOVD
-?/. 1 c.773G>T r.(?) p.(Arg258Ile) Unknown - likely benign g.29296355C>A - c.773G>T - C2orf71_000210 - PubMed: Audo 2011 - - Unknown ? 1/418 patient chromosomes; 0/190 control chromosomes - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.776_777del r.(?) p.(Glu259Alafs*51) Both (homozygous) - pathogenic g.29296348_29296349del - - - C2orf71_000060 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M no Israel Ethiopia;Jewish - - - - 2 Dror Sharon
+/. - c.776_777del r.(?) p.(Glu259Alafs*51) Unknown - pathogenic g.29296355_29296356del g.29073489_29073490del - - C2orf71_000060 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.776_777del r.(?) p.(Glu259Alafs*51) Unknown ACMG pathogenic g.29296351_29296352del - - - C2orf71_000060 - 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.776_777del r.(?) p.(Glu259Alafs*51) Both (homozygous) - pathogenic (recessive) g.29296355_29296356del g.29073489_29073490del 776_777delAG - C2orf71_000060 - PubMed: Ben Yosef 2023 - - Germline - - - - - DNA SEQ-NG - MIPs RP54 Fam19Pat1 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 family, 2 affected M no Israel Ethiopia;Jew - - - - 2 Tamar Ben-Yosef
+?/. - c.776_777del r.(?) p.(Glu259Alafs*51) Both (homozygous) - pathogenic (recessive) g.29296355_29296356del g.29073489_29073490del 776_777delAG - C2orf71_000060 - PubMed: Ben Yosef 2023 - - Germline - - - - - DNA SEQ-NG - MIPs RP54 Fam19Pat2 PubMed: Sharon 2020, PubMed: Ben Yosef 2023 sib M - Israel Ethiopia;Jew - - - - 1 Tamar Ben-Yosef
+/. - c.776_777del r.(?) p.(Glu259AlafsTer51) Unknown ACMG pathogenic (recessive) g.29296355_29296356del g.29073489_29073490del - - C2orf71_000060 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 812239 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-773 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. 1 c.802C>T r.(?) p.(Gln268*) Parent #2 - pathogenic (recessive) g.29296326G>A - c.802C>T - C2orf71_000209 - PubMed: Gerth Kahlert 2017 - - Unknown yes - - - - DNA SEQ-NG, SEQ - - retinal disease Fam9- 11 PubMed: Gerth Kahlert 2017 - M - - Lebanese/Armenian - - - - 1 LOVD
?/. - c.814C>A r.(?) p.(Gln272Lys) Unknown - VUS g.29296314G>T g.29073448G>T C2orf71(NM_001029883.2):c.814C>A (p.Q272K) - C2orf71_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.814C>T r.(?) p.(Gln272Ter) Both (homozygous) ACMG pathogenic g.29296314G>A g.29073448G>A - - C2orf71_000231 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073383 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 1 c.814C>T r.(?) p.(Gln272Ter) Both (homozygous) ACMG pathogenic g.29296314G>A g.29073448G>A - - C2orf71_000231 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074649 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
-?/. - c.867C>T r.(?) p.(Thr289=) Unknown - likely benign g.29296261G>A - PCARE(NM_001029883.2):c.867C>T (p.T289=) - C2orf71_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878T>C r.(?) p.(Leu293Pro) Both (homozygous) ACMG VUS g.29296250A>G g.29073384A>G C2orf71 c.T878C, p.L293P - C2orf71_000188 marked as causative, homozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 99 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
-?/. - c.879G>T r.(?) p.(Leu293=) Unknown - likely benign g.29296249C>A - PCARE(NM_001029883.2):c.879G>T (p.L293=) - C2orf71_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.895T>G r.(?) p.(Tyr299Asp) Unknown - VUS g.29296233A>C - - - C2orf71_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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