Full data view for gene CRB1


The expert classification of the variants can be found here.

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_201253.2 transcript reference sequence.

2836 entries on 29 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 - r.(?) p.(=) Unknown ACMG VUS g.197170569del g.197201439del - - CRB1_000559 ACMG PM2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12 c.*28T>C r.(?) p.(=) Unknown ACMG benign g.197447037T>C g.197477907T>C - - CRB1_000267 ACMG BA1, BP6 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. _1_12_ c.-299_*576{0} r.0 p.0 Unknown ACMG likely pathogenic (recessive) g.(?_197237244)_(197447585_?)del g.(?_197268114)_(197478455_?)del - - CRB1_000627 ACMG PVS1, PM2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-68771C>T r.(?) p.(=) Unknown - VUS g.197168772C>T g.197199642C>T ZBTB41(NM_194314.2):c.832G>A (p.(Asp278Asn)) - ZBTB41_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-68724_-68720del r.(?) p.(=) Unknown - VUS g.197168819_197168823del g.197199689_197199693del ZBTB41(NM_194314.2):c.784_788del (p.(Lys262Ter)) - CRB1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 Unknown - pathogenic g.(?_197237542)_(197447010_?)del - 700KB del - CRB1_000000 unknown variant 2nd chromosome; CRB1 deleted PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Frans Cremers
+/. _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 Parent #2 - pathogenic g.(?_197237542)_(197447010_?)del - deletion of CRB1 - CRB1_000000 CRB1 deleted PubMed: Aleman 2011 - - Germline - - - - - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - - - - 8 Frans Cremers
?/. _1 - r.(?) p.(=) Maternal (confirmed) ACMG VUS g.197170569del g.197201439del NM_001257965.1:c.-362delC - CRB1_000559 Compound heterozygous novel variant in 5'UTR along with another heterozygous variant - - - Germline yes - - - - DNA SEQ - - RP - - - F no India Asian >32y - - - 1 Srilekha Sundar
+?/. - c.4005+2156_*576{0} r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.197413578_197477096del g.197444448_197507966del - - CRB1_000624 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-485 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-/. - c.? r.(?) p.? Parent #1 - benign g.? - IVS4+34C>T - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - - - - 1 Julia Lopez
+?/+? - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - V13361 - NPHS2_000000 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 - - - - - - - - - 1 Julia Lopez
+/. 1 c.2T>C r.(?) p.(?) Paternal (inferred) ACMG pathogenic g.197237544T>C g.197268414T>C c.2T>C - CRB1_000417 heterozygous, causative variant PubMed: Hosono 2018 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE121 PubMed: Hosono 2018 proband, family EYE121 F no Japan Asian - - - - 1 LOVD
+/. 1 c.2T>C r.(?) p.(Met1?) Unknown ACMG pathogenic (recessive) g.197237544T>C g.197268414T>C - - CRB1_000417 ACMG PVS1, PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2T>C r.? p.? Paternal (confirmed) - pathogenic (recessive) g.197237544T>C g.197268414T>C (Met1*) - CRB1_000417 - PubMed: Jimenez 2022 - - Germline - - - - - DNA SEQ-NG - RD gene panel retinal disease Pat1 PubMed: Jimenez 2022 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.9T>C r.(?) p.(Leu3=) Unknown - likely benign g.197237551T>C - CRB1(NM_201253.3):c.9T>C (p.L3=) - CRB1_000564 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.9T>C r.(?) p.(Leu3=) Unknown ACMG likely benign g.197237551T>C g.197268421T>C - - CRB1_000564 ACMG PM2, BP7, BP4, BP6 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.14A>G r.(?) p.(Asn5Ser) Parent #1 - benign g.197237556A>G g.197268426A>G - - CRB1_000032 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-?/. 1 c.14A>G r.(?) p.(Asn5Ser) Unknown ACMG likely benign g.197237556A>G g.197268426A>G - - CRB1_000032 ACMG PM2, PP2, BP4, BP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.20_23del r.(?) p.(Asn7ThrfsTer15) Unknown ACMG pathogenic (recessive) g.197237562_197237565del g.197268432_197268435del - - CRB1_000593 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 1283919 - Germline - - - - - DNA SEQ-NG - WGS ? CRD-856 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.29T>C r.(?) p.(Leu10Pro) Unknown - VUS g.197237571T>C - - - CRB1_000586 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.29T>C r.(?) p.(Leu10Pro) Unknown ACMG VUS g.197237571T>C g.197268441T>C - - CRB1_000586 ACMG PM2, PP2, PP3, BS2, BP6 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40C>T r.(?) p.(Leu14Phe) Unknown - VUS g.197237582C>T g.197268452C>T - - CRB1_000409 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 52 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. 1 c.40C>T r.(?) p.(Leu14Phe) Unknown ACMG VUS g.197237582C>T g.197268452C>T - - CRB1_000409 ACMG PM2, PP2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.57dup r.(?) p.(Ile20Tyrfs*10) Unknown - pathogenic g.197237599dup g.197268469dup Leu19 ins1 - CRB1_000232 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 1 Frans Cremers
+?/. - c.57dup r.(?) p.(Ile20Tyrfs*10) Parent #1 - likely pathogenic (recessive) g.197237599dup g.197268469dup c.55_56insT - CRB1_000232 - PubMed: DiIorio 2017 - - Germline - - - - - DNA SEQ-NG - 150-gene panel retinal disease Pat33 PubMed: Di Iorio 2017 - - - Italy - - - - - 1 LOVD
+/. 1 c.57dup r.(?) p.(Ile20Tyrfs*10) Parent #1 - pathogenic g.197237599dup - c.57dup - CRB1_000232 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.57dup r.(?) p.(Ile20Tyrfs*10) Parent #1 - pathogenic g.197237599dup - c.57dup - CRB1_000232 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.57dup r.(?) p.(Ile20Tyrfs*10) Parent #1 - pathogenic g.197237599dup - c.57dup - CRB1_000232 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing LCA - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
+/. 1 c.57dup r.(?) p.(Ile20TyrfsTer10) Unknown ACMG pathogenic (recessive) g.197237599dup g.197268469dup - - CRB1_000232 ACMG PVS1, PS4, PM2, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.70+1G>A r.spl p.(?) Unknown ACMG likely pathogenic g.197237613G>A g.197268483G>A allele 1: c.70+1G>A/p.?, allele 2: c.2042G>A/p.C681Y - CRB1_000435 heterozygous PubMed: Weisschuh 2018 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 7 PubMed: Weisschuh 2018 - M - Germany - - - - - 1 LOVD
+/. 1i c.70+1G>A r.spl p.? Unknown ACMG pathogenic (recessive) g.197237613G>A g.197268483G>A - - CRB1_000435 ACMG PVS1, PS4, PM2, PP3, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.70+5G>A r.spl? p.(?) Unknown - likely pathogenic g.197237617G>A g.197268487G>A IVS1+5g>a - CRB1_000233 - PubMed: Preising 2007 - - Germline - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Preising 2007 1 affected ? ? - ? - - - - 1 Frans Cremers
+?/. 1i c.70+5G>A r.spl? p.? Unknown ACMG likely pathogenic (recessive) g.197237617G>A g.197268487G>A - - CRB1_000233 ACMG PM2, PM3, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71-6239_849-326dup r.? p.? Both (homozygous) - likely pathogenic g.197291313_197316144dup - dup ex4-5, chr1:197291313-197316144dup - CRB1_000343 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 409 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 1i c.71-6239_849-326dup r.? p.? Unknown ACMG likely pathogenic (recessive) g.197291313_197316144dup g.197322183_197347014dup - - CRB1_000343 - - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71-12A>T r.(=) p.(=) Unknown - benign g.197297540A>T g.197328410A>T CRB1(NM_001257965.2):c.-137-12A>T - CRB1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71-12A>T r.(=) p.(=) Unknown - benign g.197297540A>T g.197328410A>T CRB1(NM_001257965.2):c.-137-12A>T - CRB1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71-12A>T r.(?) p.(=) Parent #1 - benign g.197297540A>T g.197328410A>T IVS1-12A>T - CRB1_000239 - PubMed: Hameed 2003; PubMed: Booij 2005 - - Germline - 0.079 - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Hameed 2003 - - - - - - - - - 1 Julia Lopez
-/. 1i c.71-12A>T r.(?) p.(=) Unknown ACMG benign g.197297540A>T g.197328410A>T - - CRB1_000239 ACMG BA1, BS2, BP4, BP7, BP6 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.80G>C r.(?) p.(Cys27Ser) Unknown - likely pathogenic g.197297561G>C g.197328431G>C C->F - CRB1_000062 unknown variant 2nd chromosome PubMed: Li 2007 - - Germline - - HpyCH4V- - - DNA PCR, SEQ - - LCA - PubMed: Li 2007 - ? ? Saudi Arabia Arab - - - - 1 Frans Cremers
+?/. 2 c.80G>C r.(?) p.(Cys27Ser) Unknown ACMG likely pathogenic (recessive) g.197297561G>C g.197328431G>C - - CRB1_000062 ACMG PM2, PM5, PP2, PP3, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T c.80G>C - CRB1_000063 - PubMed: Aldahmesh 2009 - - Unknown - - HpyCH4V- - - DNA PCR, SEQ - - retinal disease DGU-F12-t1 PubMed: Aldahmesh 2009 2-generation family, 1-affected F yes Saudi Arabia Arab - - - - 1 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- - - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd F yes Saudi Arabia Arab - - - - 3 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- - - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - - - - 3 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Khan 2013 - - Germline - - HpyCH4V- - - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - - - - 3 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Paternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 2 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Paternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - - - DNA PCR, SEQ - - CORD - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 2 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Maternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - - - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 2 Frans Cremers
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Maternal (inferred) - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Abu-Safieh 2013 - - Germline - - - - - DNA PCR, SEQ - - CORD - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - - - - 2 Frans Cremers
+?/. - c.80G>T r.(?) p.(Cys27Phe) Unknown - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG0249 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
?/. 1 c.80G>T r.(?) p.(Cys27Phe) Unknown - VUS g.197297561G>T g.197328431G>T ex2 27G>T - CRB1_000408 - PubMed: Li 2009 - - Germline - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - - - - 1 LOVD
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Both (homozygous) - likely pathogenic (recessive) g.197297561G>T - c.80G>T - CRB1_000063 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 2 c.80G>T r.(?) p.(Cys27Phe) Unknown ACMG likely pathogenic (recessive) g.197297561G>T g.197328431G>T - - CRB1_000063 ACMG PM2, PM5, PP3, PP2, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.83dup r.(?) p.(Asn28Lysfs*2) Unknown - pathogenic g.197297564dup g.197328434dup - - CRB1_000271 - 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
+?/. 2 c.83dup r.(?) p.(Asn28LysfsTer2) Unknown ACMG likely pathogenic (recessive) g.197297564dup g.197328434dup - - CRB1_000271 ACMG PVS1, PM2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.99del r.(?) p.(Arg33SerfsTer38) Parent #1 - VUS g.197297580del g.197328450del 98del - CRB1_000380 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 730 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. 2 c.99del r.(?) p.(Arg33SerfsTer38) Unknown ACMG likely pathogenic (recessive) g.197297580del g.197328450del - - CRB1_000380 ACMG PVS1, PM2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107C>A r.(?) p.(Ser36*) Both (homozygous) - VUS g.197297588C>A g.197328458C>A CRB1 nucleotide 1, protein 1:c.107C>A, p.Ser36* - CRB1_000500 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 13 PubMed: Hull 2020 - ? - New Zealand Pacific - - - - 1 LOVD
+/. 2 c.107C>A r.(?) p.(Ser36Ter) Unknown ACMG pathogenic (recessive) g.197297588C>A g.197328458C>A - - CRB1_000500 ACMG PVS1, PM2, PP3, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.107C>G r.(?) p.(Ser36*) Unknown - pathogenic g.197297588C>G g.197328458C>G - - CRB1_000064 - PubMed: Mckibbin 2010 - - Germline - - Hpy188I+ - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Mckibbin 2010 - ? ? Pakistan Pakistani - - - - 10 Frans Cremers
+/. 2 c.107C>G r.(?) p.(Ser36*) Unknown - pathogenic g.197297588C>G g.197328458C>G - - CRB1_000064 - PubMed: Mckibbin 2010 - - Germline - - Hpy188I+ - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Mckibbin 2010 - ? ? Pakistan Pakistani - - - - 10 Frans Cremers
+?/. - c.107C>G r.(?) p.(Ser36*) Both (homozygous) - likely pathogenic (recessive) g.197297588C>G - - - CRB1_000064 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.107C>G r.(?) p.(Ser36Ter) Unknown ACMG pathogenic (recessive) g.197297588C>G g.197328458C>G - - CRB1_000064 ACMG PVS1, PM2, PP3 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.112del r.(?) p.(Ser38Leufs*33) Unknown - pathogenic g.197297593del g.197328463del 1 bp del codon 37 - CRB1_000065 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 1/190 cases ApoI- - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? - ? - - - - 1 Frans Cremers
+/. 2 c.112del r.(?) p.(Ser38Leufs*33) Unknown - pathogenic g.197297593del g.197328463del Asn37 del1 - CRB1_000065 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 2 Frans Cremers
+/. 2 c.112del r.(?) p.(Ser38Leufs*33) Unknown - pathogenic g.197297593del g.197328463del Asn37 del1 - CRB1_000065 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? - ? - - - - 2 Frans Cremers
+/. 2 c.112del r.(?) p.(Ser38LeufsTer33) Unknown ACMG pathogenic (recessive) g.197297593del g.197328463del - - CRB1_000065 ACMG PVS1, PM2, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.134_135del r.(?) p.(Cys45Ter) Unknown ACMG pathogenic (recessive) g.197297615_197297616del g.197328485_197328486del - - CRB1_000594 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 1275767 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1279 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+?/. 2 c.135C>G r.(?) p.(Cys45Trp) Parent #1 - likely pathogenic g.197297616C>G g.197328486C>G - - CRB1_000031 considered benign for patient (only 1 case of dominant inheritance reported for predicted potentially pathogenic variant); does not segregate with disease, not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/. 2 c.135C>G r.(?) p.(Cys45Trp) Parent #1 - likely pathogenic g.197297616C>G g.197328486C>G - - CRB1_000031 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/. 2 c.135C>G r.(?) p.(Cys45Trp) Unknown - likely pathogenic g.197297616C>G g.197328486C>G - - CRB1_000031 unknown variant 2nd chromosome PubMed: Clark 2010 - - Germline - - BsmI+ - - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Clark 2010 - ? ? Ireland Irish - - - - 1 Frans Cremers
?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W), CRB1(NM_201253.3):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W), CRB1(NM_201253.3):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W), CRB1(NM_201253.3):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown - VUS g.197297616C>G g.197328486C>G - - CRB1_000031 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71094 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown ACMG likely pathogenic g.197297616C>G g.197328486C>G CRB1 c.135 C>G, p.(Cys45Trp) - CRB1_000031 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 397 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown ACMG likely pathogenic g.197297616C>G g.197328486C>G CRB1 c.135C>G, p.(Cys45Trp) - CRB1_000031 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 398 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-?/. 2 c.135C>G r.(?) p.(Cys45Trp) Unknown - likely benign g.197297616C>G - c.135C>G - CRB1_000031 - PubMed: González-del Pozo-2011 - - Germline no - - - - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - - - - 1 LOVD
+?/. 2 c.135C>G r.(?) p.(Cys45Trp) Unknown ACMG likely pathogenic (recessive) g.197297616C>G g.197328486C>G - - CRB1_000031 ACMG PM2, PM3, PP2, PP3, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Unknown - pathogenic g.197297619del g.197328489del c.[136delA] - CRB1_000066 - PubMed: Li 2014 - - Germline - - - - - DNA PCR, SEQ - - RD - PubMed: Li 2014 - M ? China Chinese - - - - 1 Frans Cremers
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Unknown - pathogenic g.197297619del g.197328489del c.137delA - CRB1_000066 - PubMed: Huang 2014 - - Germline - - - - - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Huang 2014 - M ? - ? - - - - 1 Frans Cremers
+?/. - c.138del r.(?) p.(Asp47Ilefs*24) Parent #1 - likely pathogenic g.197297619del g.197328489del c.138delA - CRB1_000066 - PubMed: Huang 2018 - - Germline - - - - - DNA SEQ-NG - 283-gene panel retinal disease RP101 PubMed: Huang 2018 - - - - - - - - - 1 LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Parent #1 - pathogenic (recessive) g.197297619del - c.138delA (p.Asp47IlefsX24) - CRB1_000066 - PubMed: Lu-2016 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease II:1 PubMed: Lu-2016 - M - China Chinese - - - - 1 LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Parent #1 - pathogenic (recessive) g.197297619del - c.138delA (p.Asp47IlefsX24) - CRB1_000066 - PubMed: Lu-2016 - - Germline yes - - - - DNA SEQ, PCR blood - retinal disease II:2 PubMed: Lu-2016 - M - China Chinese - - - - 1 LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Parent #1 - pathogenic (recessive) g.197297619del - c.138delA (p.Asp47IlefsX24) - CRB1_000066 - PubMed: Lu-2016 - - Germline yes - - - - DNA SEQ, PCR blood - retinal disease II:3 PubMed: Lu-2016 - F - China Chinese - - - - 1 LOVD
+/. 2 c.138del r.(?) p.(Asp47IlefsTer24) Unknown ACMG pathogenic (recessive) g.197297619del g.197328489del - - CRB1_000066 ACMG PVS1, PM2, PP5 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.139del r.(?) p.(Asp47Ilefs*24) Unknown ACMG pathogenic g.197297620del g.197328490del NM_201253.2:c.139del, NP_957705.1:p.(Asp47IlefsTer24), NC_000001.10:g.197297620del - CRB1_000424 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016112804 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 2 c.139del r.(?) p.(Asp47Ilefs*24) Unknown - likely pathogenic (recessive) g.197297620del - c.139delG - CRB1_000424 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 2 c.139del r.(?) p.(Asp47IlefsTer24) Unknown ACMG likely pathogenic (recessive) g.197297620del g.197328490del - - CRB1_000424 ACMG PVS1, PM2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.140dup r.(?) p.(Asp47Glufs*7) Unknown - pathogenic g.197297621dup g.197328491dup - - CRB1_000272 - 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
+?/. 2 c.140dup r.(?) p.(Asp47GlufsTer7) Unknown ACMG likely pathogenic (recessive) g.197297621dup g.197328491dup - - CRB1_000272 ACMG PVS1, PM2 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.142T>A r.(?) p.(Phe48Ile) Unknown - likely benign g.197297623T>A - CRB1(NM_201253.2):c.142T>A (p.F48I) - CRB1_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.142T>A r.(?) p.(Phe48Ile) Unknown ACMG likely benign g.197297623T>A g.197328493T>A - - CRB1_000322 ACMG PM2, PP2, BP4 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161G>T r.(?) p.(Cys54Phe) Unknown - VUS g.197297642G>T g.197328512G>T - - CRB1_000411 - PubMed: Wang 2014 - rs140428156 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 18 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. - c.161G>T r.(?) p.(Cys54Phe) Unknown ACMG likely pathogenic g.197297642G>T g.197328512G>T - - CRB1_000411 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 072216 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.161G>T r.(?) p.(Cys54Phe) Unknown ACMG likely pathogenic g.197297642G>T g.197328512G>T - - CRB1_000411 case unsolved PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ - smMIP-based 105 iMD/AMD genes macular dystrophy 074703 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Johan den Dunnen
?/. 2 c.161G>T r.(?) p.(Cys54Phe) Unknown ACMG VUS g.197297642G>T g.197328512G>T - - CRB1_000411 ACMG PM2, PP3, PP2, BP6 - - rs140428156 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207C>T r.(?) p.(Asn69=) Unknown - likely benign g.197297688C>T - CRB1(NM_201253.2):c.207C>T (p.N69=) - CRB1_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.207C>T r.(?) p.(Asn69=) Unknown ACMG likely benign g.197297688C>T g.197328558C>T - - CRB1_000338 ACMG PM2, BP7, BP4, BP6 - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.221G>A r.(?) p.(Cys74Tyr) Both (homozygous) - likely pathogenic g.197297702G>A - c.221G>A - CRB1_000571 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - M - - - - - - - 1 Daan Panneman
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