Full data view for gene CRB1

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.

2082 entries on 21 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.? r.(?) p.? Both (homozygous) - likely pathogenic (recessive) g.? - 3101T>C / Leu989Thr - NPHS2_000000 - PubMed: Khaliq 2003 - - Germline yes - - 0 - DNA HD , SEQ Blood - retinal disease - PubMed: Khaliq 2003 - - yes - Pakistani - 0 - - 8 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - 6147T>C - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - 0 - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - IVS3-35C>T - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - 0 - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - IVS1-12A>T - NPHS2_000000 - PubMed: Hameed 2003; PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Hameed 2003 - - - - - - 0 - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - IVS4+34C>T - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - 0 - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - IVS4-54C>A - NPHS2_000000 - PubMed: Booij 2005 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - 0 - - 1 Julia Lopez
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - c.G1613A p.W538X - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Fam16 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - c.T1364C p.L455P - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Fam17 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - c.T3106C p.C1036R - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Fam16 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - c.1922-1G > C NA - NPHS2_000000 - PubMed: Wang 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Fam17 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic g.? - 652+2G>T - NPHS2_000000 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 1636129 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/+? - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - V13361 - NPHS2_000000 - PubMed: Jacobson 2007 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 - - - - - - 0 - - 1 Julia Lopez
?/. - c.? r.(?) p.? Unknown - VUS g.? - p.CRX-Q105X - NPHS1_000138 Mother healthy heterozygous carrier PubMed: Schorderet-2013 - - Germline - - - 0 - DNA SEQ-NG, SEQp blood targeted exon capture/IROme assay retinal disease - PubMed: Schorderet-2013 - - - Switzerland Swiss, Algerian or Tunisian - 0 - - 1 LOVD
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 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 - - - 0 - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - 0 - - 8 Frans Cremers
+/. 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: Hosono2018 - - Germline yes - - 0 - DNA SEQ-NG, SEQ blood Targeted next-generation sequencing retinal disease EYE121 PubMed: Hosono2018 proband, family EYE121 F no Japan Asian - 0 - - 1 LOVD
-/. 1 c.14A>G r.(?) p.(Asn5Ser) Parent #1 - benign g.197237556A>G g.197268426A>G - - CRB1_000032 - PubMed: Neveling 2012 - - Germline no - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 1 Kornelia Neveling
-/. 1 c.27T r.(?) p.? Unknown - benign g.197237569G>T - 27G?T - CRB1_000408 - PubMed: Li-2009 - - Germline - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - 0 - - 1 LOVD
?/. - c.40C>T r.(?) p.(Leu14Phe) Unknown - VUS g.197237582C>T g.197268452C>T - - CRB1_000409 - PubMed: Wang 2014 - - Germline - - - 0 - DNA SEQ-NG - 66-gene panel retinal disease 52 PubMed: Wang 2014 - M - United States - - 0 - - 1 LOVD
+/. 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 - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 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 - - - 0 - DNA SEQ-NG - 150-gene panel retinal disease Pat33 PubMed: Di Iorio 2017 - - - Italy - - 0 - - 1 LOVD
+?/. - 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 - - 0 - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 7 PubMed: Weisschuh 2018 - M - Germany - - 0 - - 1 LOVD
+?/. 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 - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Preising 2007 1 affected ? ? ? (unknown) ? - 0 - - 1 Frans Cremers
+?/. - 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 - - - 0 - DNA SEQ-NG - - retinal disease 409 PubMed: Stone 2017 1 affected M - (United States) - - 0 - - 1 LOVD
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 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- 0 - DNA PCR, SEQ - - LCA - PubMed: Li 2007 - ? ? Saudi Arabia Arab - 0 - - 1 Frans Cremers
+?/. 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- 0 - DNA PCR, SEQ - - retinal disease DGU-F12-t1 PubMed: Aldahmesh 2009 2-generation family, 1-affected F yes Saudi Arabia Arab - 0 - - 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- 0 - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd F yes Saudi Arabia Arab - 0 - - 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- 0 - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - 0 - - 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- 0 - DNA PCR, SEQ - - CORD - PubMed: Khan 2013 4 generation family, 3 affecetd M yes Saudi Arabia Arab - 0 - - 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 - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 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 - - - 0 - DNA PCR, SEQ - - CORD - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 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 - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 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 - - - 0 - DNA PCR, SEQ - - CORD - PubMed: Abu-Safieh 2013 - ? ? Saudi Arabia Arab - 0 - - 2 Frans Cremers
+?/. - c.80G>T r.(?) p.(Cys27Phe) Unknown - likely pathogenic g.197297561G>T g.197328431G>T - - CRB1_000063 - PubMed: Patel 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease 13DG0249 PubMed: Patel 2016 - - - Saudi Arabia - - 0 - - 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 - - - 0 - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - 0 - - 1 LOVD
+/. - 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 - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/. 2 c.93C>T r.(=) p.(=) Both (homozygous) - pathogenic g.197297574C>T - 93C?T - CRB1_000410 - PubMed: Li-2009 - - Unknown - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - 0 - - 1 LOVD
+/. 2 c.93C>T r.(=) p.(=) Both (homozygous) - pathogenic g.197297574C>T - 93C?T - CRB1_000410 - PubMed: Li-2009 - - Germline - - - 0 - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - 0 - - 1 LOVD
?/. - c.99del r.(?) p.(Arg33SerfsTer38) Parent #1 - VUS g.197297580del g.197328450del 98del - CRB1_000380 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 730 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
?/. - 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 ? - - 0 - 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 - 0 - - 1 LOVD
+/. 2 c.107C>G r.(?) p.(Ser36*) Unknown - pathogenic g.197297588C>G g.197328458C>G - - CRB1_000064 - PubMed: Mckibbin 2010 - - Germline - - Hpy188I+ 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Mckibbin 2010 - ? ? Pakistan Pakistani - 0 - - 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+ 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Mckibbin 2010 - ? ? Pakistan Pakistani - 0 - - 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 - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 homozygous patient - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
+/. 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- 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? ? (unknown) ? - 0 - - 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 - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 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 - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 2 Frans Cremers
+?/. 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 - - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 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 - - 0 - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - 0 - - 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+ 0 - DNA arraySEQ, PCR, SEQ - - retinal disease - PubMed: Clark 2010 - ? ? Ireland Irish - 0 - - 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_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):c.135C>G (p.C45W) - CRB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.135C>G r.(?) p.(Cys45Trp) Unknown - VUS g.197297616C>G g.197328486C>G CRB1(NM_201253.2):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 - - - 0 - DNA SEQ-NG - WES retinal disease Case71094 PubMed: Tiwari 2016 see paper M - Switzerland - - 0 - - 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 ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 397 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 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 ? - - 0 - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 398 PubMed: Jespersgaar 2019 - ? - Denmark - - 0 - - 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 - - 0 - DNA arraySEQ, MLPA - - retinal disease - PubMed: González-del Pozo-2011 - - - - Spanish - 0 - - 1 LOVD
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Unknown - pathogenic g.197297619del g.197328489del c.[136delA] - CRB1_000066 - PubMed: Li 2014 - - Germline - - - 0 - DNA PCR, SEQ - - RD - PubMed: Li 2014 - M ? China Chinese - 0 - - 1 Frans Cremers
+/. 2 c.138del r.(?) p.(Asp47Ilefs*24) Unknown - pathogenic g.197297619del g.197328489del c.137delA - CRB1_000066 - PubMed: Huang 2014 - - Germline - - - 0 - DNA SEQ-NG-I, PCR, SEQ - - retinal disease - PubMed: Huang 2014 - M ? ? (unknown) ? - 0 - - 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 - - - 0 - DNA SEQ-NG - 283-gene panel retinal disease RP101 PubMed: Huang 2018 - - - - - - 0 - - 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 - - 0 - DNA SEQ-NG blood - retinal disease II:1 PubMed: Lu-2016 - M - China Chinese - 0 - - 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 - - 0 - DNA SEQ, PCR blood - retinal disease II:2 PubMed: Lu-2016 - M - China Chinese - 0 - - 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 - - 0 - DNA SEQ, PCR blood - retinal disease II:3 PubMed: Lu-2016 - F - China Chinese - 0 - - 1 LOVD
+/. 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 ? - - 0 - 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 - 0 - - 1 LOVD
+?/. 2 c.139del r.(?) p.(Asp47Ilefs*24) Unknown - likely pathogenic (recessive) g.197297620del - c.139delG - CRB1_000424 - PubMed: Liu-2020 - - Germline - - - 0 - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - 0 - - 1 LOVD
+/. - 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 - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
-?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161G>T r.(?) p.(Cys54Phe) Unknown - VUS g.197297642G>T g.197328512G>T - - CRB1_000411 - PubMed: Wang 2014 - rs140428156 Germline - - - 0 - DNA SEQ-NG - 66-gene panel retinal disease 18 PubMed: Wang 2014 - M - United States - - 0 - - 1 LOVD
-?/. - 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.253_254insAA r.(?) p.(Cys85*) Unknown - pathogenic g.197297734_197297735insAA g.197328604_197328605insAA p.Cys85ins2 - CRB1_000067 - PubMed: Aleman 2011 - - Germline - - AflII+;MseI+;SmlI+ 0 - DNA ? - - retinal degeneration - PubMed: Aleman 2011 - F ? United States American - 0 - - 1 Frans Cremers
+/. - c.254G>A r.(?) p.(Cys85Tyr) Unknown - pathogenic (recessive) g.197297735G>A - 1:197297735G>A ENST00000367400.3:c.254G>A (Cys85Tyr) - CRB1_000325 - PubMed: Carss 2017 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease B240212 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+/. 2 c.257_258dup r.(?) p.(Asn87*) Unknown - pathogenic g.197297738_197297739dup g.197328608_197328609dup 86–87ins2bp - CRB1_000068 unknown variant 2nd chromosome PubMed: Jacobson 2003 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Jacobson 2003 - F ? United States American - 0 - - 2 Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) Unknown - pathogenic g.197297738_197297739dup g.197328608_197328609dup Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 3 Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) Unknown - pathogenic g.197297738_197297739dup g.197328608_197328609dup Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 3 Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) Unknown - pathogenic g.197297738_197297739dup g.197328608_197328609dup Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 3 Frans Cremers
+/. 2 c.257_258dup r.(?) p.(Asn87*) Unknown - pathogenic g.197297738_197297739dup g.197328608_197328609dup 2 bp ins codon 86-87 - CRB1_000068 - PubMed: Lotery 2001 - - Germline - 1/190 cases - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? ? (unknown) ? - 0 - - 7 Frans Cremers
+/. - c.257_258dup r.(?) p.(Asn87*) Parent #2 - pathogenic g.197297738_197297739dup g.197328608_197328609dup 252_253insTG - CRB1_000068 - PubMed: Ge 2015 - - Germline - - - 0 - DNA SEQ-NG - 195-gene panel retinal disease UEW+W.58 PubMed: Ge 2015 simplex case - - United States - - 0 - - 1 LOVD
-?/. - c.276G>C r.(?) p.(Arg92Ser) Unknown - likely benign g.197297757G>C g.197328627G>C CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S) - CRB1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276G>C r.(?) p.(Arg92Ser) Unknown - likely benign g.197297757G>C - CRB1(NM_001193640.1):c.276G>C (p.(Arg92Ser)), CRB1(NM_001257965.1):c.69G>C (p.R23S) - CRB1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54) Unknown ACMG likely pathogenic g.197297757_197297775delinsTGAACACTGTAC g.197328627_197328645delinsTGAACACTGTAC CRB1 c.276 294deIinsTGAACACTGTAC; p. Arg92SerfsTer54 - CRB1_000501 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 110 PubMed: Sallum 2020 - ? - Brazil - - 0 - - 1 LOVD
+?/. 2 c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54) Parent #1 - likely pathogenic (recessive) g.197297757_197297775delinsTGAACACTGTAC - c.276_294delinsTGAACACTGTAC - CRB1_000501 - PubMed: Motta-2017 - - Germline - - - 0 - DNA SEQ-NG blood Next-Generation Sequencing Panel retinal disease 10 PubMed: Motta-2017 - - - Brazil Brazilian - 0 - - 1 LOVD
?/. - c.278G>C r.(?) p.(Ser93Thr) Unknown - VUS g.197297759G>C g.197328629G>C - - CRB1_000273 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - 0 - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - 0 - - 1 Yoshito Koyanagi
+/. - c.288C>A r.(?) p.(Cys96*) Unknown ACMG pathogenic g.197297769C>A g.197328639C>A CRB1 NM_201253: g.127178C>A, c.288C>A, p.C96X - CRB1_000466 - PubMed: Xu 2020 - - Unknown ? - - 0 - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19607 PubMed: Xu 2020 - ? no China - - 0 - - 1 LOVD
+/. 2 c.358C>T r.(?) p.(Gln120*) Unknown - pathogenic g.197297839C>T g.197328709C>T c.258C>T - CRB1_000069 - PubMed: Simonelli 2007 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - 0 - - 1 Frans Cremers
+/. 2 c.358C>T r.(?) p.(Gln120*) Unknown - pathogenic g.197297839C>T g.197328709C>T c.258C>T - CRB1_000069 - PubMed: Simonelli 2007 - - Germline - - - 0 - DNA DHPLC, PCR, SEQ - - LCA - PubMed: Simonelli 2007 - ? ? Italy Italian - 0 - - 1 Frans Cremers
+?/. - c.361del r.(?) p.(His121MetfsTer27) Unknown - likely pathogenic g.197297842del g.197328712del CRB1(NM_001257965.2):c.154delC (p.H52Mfs*27) - CRB1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.407G>A r.(?) p.(Cys136Tyr) Parent #1 - likely pathogenic (recessive) g.197297888G>A g.197328758G>A - - CRB1_000369 - PubMed: Weisschuh 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease ARRP17 PubMed: Weisschuh 2016 family - - Germany - - 0 - - 1 LOVD
+?/. - c.407G>A r.(?) p.(Cys136Tyr) Parent #1 - likely pathogenic g.197297888G>A g.197328758G>A CRB1, variant 1: c.407G>A/p.C136Y, variant 2 :Duplication exon 8 - CRB1_000369 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 979 PubMed: Weisschuh 2020 Filing key number: 443, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+/. 2 c.407G>A r.(?) p.(Cys136Tyr) Parent #1 - pathogenic g.197297888G>A - c.407G>A - CRB1_000369 - PubMed: Stingl-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease CRB1-09 PubMed: Stingl-2019 - F - - - - 0 - - 1 LOVD
+?/. - c.410del r.(?) p.(Pro137Leufs*11) Unknown ACMG likely pathogenic g.197297891del g.197328761del allele 1: c.410del/p.P137Lfs*11, allele 2: c.2843G>A/p.C948Y - CRB1_000436 heterozygous PubMed: Weisschuh 2018 - - Germline ? - - 0 - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 6 PubMed: Weisschuh 2018 - F - Germany - - 0 - - 1 LOVD
+/. 2 c.424G>T r.(?) p.(Gly142*) Unknown - pathogenic g.197297905G>T g.197328775G>T - - CRB1_000070 - PubMed: Beryozkin 2013 - - Germline - - - 0 - DNA arraySNP, PCR, SEQ - - LCA - PubMed: Beryozkin 2013 - ? ? - Jewish;Kurdistan - 0 - - 1 Frans Cremers
+/. 2 c.424G>T r.(?) p.(Gly142*) Maternal (confirmed) - pathogenic g.197297905G>T g.197328775G>T - - CRB1_000070 - Sharon, submitted - - Germline - - - 0 - DNA SEQ - - LCA - Sharon, submitted - M no Israel Jewish - 0 - - 1 Dror Sharon
+/. - c.424G>T r.(?) p.(Gly142*) Unknown ACMG pathogenic g.197297905G>T - - - CRB1_000070 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.424G>T r.(?) p.(Gly142*) Unknown ACMG pathogenic g.197297905G>T - - - CRB1_000070 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. 2 c.428_432del r.(?) p.(Arg143Metfs*2) Unknown - pathogenic g.197297909_197297913del g.197328779_197328783del 5 bp del 143-144 - CRB1_000216 unknown variant 2nd chromosome PubMed: Lotery 2001 - - Unknown - 1/190 cases HinfI-;MboII-;TfiI- 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Lotery 2001 - ? ? ? (unknown) ? - 0 - - 1 Frans Cremers
+/. 2 c.428_432del r.(?) p.(Arg143Metfs*2) Unknown - pathogenic g.197297909_197297913del g.197328779_197328783del Arg143 del5 - CRB1_000216 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - 0 - DNA SSCA, PCR, SEQ - - LCA - PubMed: Stone 2007 - ? ? ? (unknown) ? - 0 - - 1 Frans Cremers
+?/. - c.428_432del r.(?) p.(Arg143Metfs*2) Parent #2 - likely pathogenic g.197297909_197297913del g.197328779_197328783del 428_432delGATTC - CRB1_000216 - PubMed: Stone 2017 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease 408 PubMed: Stone 2017 1 affected F - (United States) - - 0 - - 1 LOVD
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