Unique variants in the CRB1 gene

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.

566 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/., +?/+?, +?/., -/., ?/. 13 - c.? r.(?), r.? p.? - benign, likely pathogenic, likely pathogenic (recessive), pathogenic, VUS g.? - 3101T>C / Leu989Thr, 6147T>C, 652+2G>T, c.1922-1G > C NA, c.G1613A p.W538X, V13361, 7 more items - NPHS1_000138, NPHS2_000000 Mother healthy heterozygous carrier PubMed: Booij 2005, PubMed: Hameed 2003; PubMed: Booij 2005, PubMed: Jacobson 2007, PubMed: Wang 2015, 3 more items - - Germline yes - - - - Julia Lopez
?/. 1 - c.-68771C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.-68724_-68720del r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
+/. 2 _1_12_ c.(?_-1)_(*1_?)del r.0 p.0 - pathogenic g.(?_197237542)_(197447010_?)del - 700KB del, deletion of CRB1 - CRB1_000000 CRB1 deleted, unknown variant 2nd chromosome; CRB1 deleted PubMed: Aleman 2011, PubMed: Stone 2007 - - Germline, Unknown - - - - - Frans Cremers
+/. 1 1 c.2T>C r.(?) p.(?) ACMG pathogenic g.197237544T>C g.197268414T>C c.2T>C - CRB1_000417 heterozygous, causative variant PubMed: Hosono2018 - - Germline yes - - - - LOVD
-/. 1 1 c.14A>G r.(?) p.(Asn5Ser) - benign g.197237556A>G g.197268426A>G - - CRB1_000032 - PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-/. 1 1 c.27T r.(?) p.? - benign g.197237569G>T - 27G?T - CRB1_000408 - PubMed: Li-2009 - - Germline - - - - - LOVD
?/. 1 - c.40C>T r.(?) p.(Leu14Phe) - VUS g.197237582C>T g.197268452C>T - - CRB1_000409 - PubMed: Wang 2014 - - Germline - - - - - LOVD
+/., +?/. 2 1 c.57dup r.(?) p.(Ile20Tyrfs*10) - likely pathogenic (recessive), pathogenic g.197237599dup g.197268469dup c.55_56insT, Leu19 ins1 - CRB1_000232 unknown variant 2nd chromosome PubMed: DiIorio 2017, PubMed: Stone 2007 - - Germline, Unknown - - - - - Frans Cremers
+?/. 1 - c.70+1G>A r.spl p.(?) 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 - - - - LOVD
+?/. 1 1i c.70+5G>A r.spl? p.(?) - likely pathogenic g.197237617G>A g.197268487G>A IVS1+5g>a - CRB1_000233 - PubMed: Preising 2007 - - Germline - - - - - Frans Cremers
+?/. 1 - c.71-6239_849-326dup r.? p.? - likely pathogenic g.197291313_197316144dup - dup ex4-5, chr1:197291313-197316144dup - CRB1_000343 - PubMed: Stone 2017 - - Germline - - - - - LOVD
-/. 2 - c.71-12A>T r.(=) p.(=) - benign g.197297540A>T g.197328410A>T CRB1(NM_001257965.2):c.-137-12A>T - CRB1_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 2 c.80G>C r.(?) p.(Cys27Ser) - likely pathogenic g.197297561G>C g.197328431G>C C->F - CRB1_000062 unknown variant 2nd chromosome PubMed: Li 2007 - - Germline - - HpyCH4V- - - Frans Cremers
+?/. 10 2 c.80G>T r.(?) p.(Cys27Phe) - likely pathogenic, likely pathogenic (recessive) g.197297561G>T g.197328431G>T c.80G>C, c.80G>T - CRB1_000063 - PubMed: Abu-Safieh 2013, PubMed: Aldahmesh 2009, PubMed: Khan 2013, PubMed: Liu-2020, 1 more item - - Germline, Unknown - - HpyCH4V- - - Frans Cremers
+/. 1 - c.83dup r.(?) p.(Asn28Lysfs*2) - pathogenic g.197297564dup g.197328434dup - - CRB1_000271 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 2 2 c.93C>T r.(=) p.(=) - pathogenic g.197297574C>T - 93C?T - CRB1_000410 - PubMed: Li-2009 - - Germline, Unknown - - - - - LOVD
?/. 1 - c.99del r.(?) p.(Arg33SerfsTer38) - VUS g.197297580del g.197328450del 98del - CRB1_000380 - PubMed: Wang 2015 - - Germline - - - - - LOVD
?/. 1 - c.107C>A r.(?) p.(Ser36*) - 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 ? - - - - LOVD
+/., +?/. 3 2 c.107C>G r.(?) p.(Ser36*) - likely pathogenic (recessive), pathogenic g.197297588C>G g.197328458C>G - - CRB1_000064 - PubMed: Holtan 2020, PubMed: Mckibbin 2010 - - Germline - 1/899 cases Hpy188I+ - - Global Variome, with Curator vacancy, Frans Cremers
+/. 3 2 c.112del r.(?) p.(Ser38Leufs*33) - pathogenic g.197297593del g.197328463del 1 bp del codon 37, Asn37 del1 - CRB1_000065 unknown variant 2nd chromosome PubMed: Lotery 2001, PubMed: Stone 2007 - - Unknown - 1/190 cases ApoI- - - Frans Cremers
+?/., -?/., ?/. 10 2 c.135C>G r.(?) p.(Cys45Trp) ACMG likely benign, likely pathogenic, VUS g.197297616C>G g.197328486C>G c.135C>G, CRB1 c.135 C>G, p.(Cys45Trp), CRB1 c.135C>G, p.(Cys45Trp), 1 more item - CRB1_000031 predicted to affect function, but insufficient evidence for definite conclusion, 4 more items PubMed: Clark 2010, PubMed: González-del Pozo-2011, PubMed: Jespersgaar 2019, PubMed: Neveling 2012, 1 more item - - CLASSIFICATION record, Germline ?, no - BsmI+ - - Kornelia Neveling, Frans Cremers, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/., +?/. 6 2 c.138del r.(?) p.(Asp47Ilefs*24) - likely pathogenic, pathogenic, pathogenic (recessive) g.197297619del g.197328489del c.137delA, c.138delA, c.138delA (p.Asp47IlefsX24), c.[136delA] - CRB1_000066 - PubMed: Huang 2014, PubMed: Huang 2018, PubMed: Li 2014, PubMed: Lu-2016 - - Germline yes - - - - Frans Cremers
+/., +?/. 2 2 c.139del r.(?) p.(Asp47Ilefs*24) ACMG likely pathogenic (recessive), pathogenic g.197297620del g.197328490del c.139delG, NM_201253.2:c.139del, NP_957705.1:p.(Asp47IlefsTer24), NC_000001.10:g.197297620del - CRB1_000424 - PubMed: Liu-2020, PubMed: Wang 2018 - - Germline ? - - - - LOVD
+/. 1 - c.140dup r.(?) p.(Asp47Glufs*7) - pathogenic g.197297621dup g.197328491dup - - CRB1_000272 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.142T>A r.(?) p.(Phe48Ile) - likely benign g.197297623T>A - CRB1(NM_201253.2):c.142T>A (p.F48I) - CRB1_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.161G>T r.(?) p.(Cys54Phe) - VUS g.197297642G>T g.197328512G>T - - CRB1_000411 - PubMed: Wang 2014 - rs140428156 Germline - - - - - LOVD
-?/. 1 - c.207C>T r.(?) p.(Asn69=) - likely benign g.197297688C>T - CRB1(NM_201253.2):c.207C>T (p.N69=) - CRB1_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 2 c.253_254insAA r.(?) p.(Cys85*) - pathogenic g.197297734_197297735insAA g.197328604_197328605insAA p.Cys85ins2 - CRB1_000067 - PubMed: Aleman 2011 - - Germline - - AflII+;MseI+;SmlI+ - - Frans Cremers
+/. 1 - c.254G>A r.(?) p.(Cys85Tyr) - pathogenic (recessive) g.197297735G>A - 1:197297735G>A ENST00000367400.3:c.254G>A (Cys85Tyr) - CRB1_000325 - PubMed: Carss 2017 - - Germline - - - - - LOVD
+/. 6 2 c.257_258dup r.(?) p.(Asn87*) - pathogenic g.197297738_197297739dup g.197328608_197328609dup 2 bp ins codon 86-87, 252_253insTG, 86–87ins2bp, Cys85 ins2 - CRB1_000068 unknown variant 2nd chromosome PubMed: Ge 2015, PubMed: Jacobson 2003, PubMed: Lotery 2001, PubMed: Stone 2007 - - Germline, Unknown - 1/190 cases - - - Frans Cremers
-?/. 2 - c.276G>C r.(?) p.(Arg92Ser) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 2 2 c.276_294delinsTGAACACTGTAC r.(?) p.(Arg92Serfs*54) ACMG likely pathogenic, likely pathogenic (recessive) g.197297757_197297775delinsTGAACACTGTAC g.197328627_197328645delinsTGAACACTGTAC c.276_294delinsTGAACACTGTAC, CRB1 c.276 294deIinsTGAACACTGTAC; p. Arg92SerfsTer54 - CRB1_000501 heterozygous PubMed: Motta-2017, PubMed: Sallum 2020 - - Germline, Unknown ? - - - - LOVD
?/. 1 - c.278G>C r.(?) p.(Ser93Thr) - VUS g.197297759G>C g.197328629G>C - - CRB1_000273 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.288C>A r.(?) p.(Cys96*) 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 ? - - - - LOVD
+/. 2 2 c.358C>T r.(?) p.(Gln120*) - pathogenic g.197297839C>T g.197328709C>T c.258C>T - CRB1_000069 - PubMed: Simonelli 2007 - - Germline - - - - - Frans Cremers
+?/. 1 - c.361del r.(?) p.(His121MetfsTer27) - likely pathogenic g.197297842del g.197328712del CRB1(NM_001257965.2):c.154delC (p.H52Mfs*27) - CRB1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 3 2 c.407G>A r.(?) p.(Cys136Tyr) - likely pathogenic, likely pathogenic (recessive), pathogenic g.197297888G>A g.197328758G>A c.407G>A, CRB1, variant 1: c.407G>A/p.C136Y, variant 2 :Duplication exon 8 - CRB1_000369 possibly solved, compound heterozygous PubMed: Stingl-2019, PubMed: Weisschuh 2016, PubMed: Weisschuh 2020 - - Germline, Unknown ? - - - - LOVD
+?/. 1 - c.410del r.(?) p.(Pro137Leufs*11) 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 ? - - - - LOVD
+/. 4 2 c.424G>T r.(?) p.(Gly142*) ACMG pathogenic g.197297905G>T g.197328775G>T - - CRB1_000070 - Sharon, submitted, PubMed: Beryozkin 2013, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon, Frans Cremers
+/., +?/. 3 2 c.428_432del r.(?) p.(Arg143Metfs*2) - likely pathogenic, pathogenic g.197297909_197297913del g.197328779_197328783del 428_432delGATTC, 5 bp del 143-144, Arg143 del5 - CRB1_000216 unknown variant 2nd chromosome PubMed: Lotery 2001, PubMed: Stone 2007, PubMed: Stone 2017 - - Germline, Unknown - 1/190 cases HinfI-;MboII-;TfiI- - - Frans Cremers
+?/. 3 2 c.430T>G r.(?) p.(Phe144Val) - likely pathogenic g.197297911T>G g.197328781T>G Phe144Val, 1 more item - CRB1_000217 compound heterozygous, unknown variant 2nd chromosome PubMed: Lotery 2001, PubMed: Martin Merida 2019, PubMed: Stone 2007 - - Germline, Unknown yes 1/190 cases EarI+;MlyI+;PleI+;TfiI- - - Frans Cremers
+/. 1 2 c.433T>C r.(?) p.(Cys145Arg) - pathogenic g.197297914T>C g.197328784T>C - - CRB1_000237 - PubMed: Li 2017 - - Germline yes - - - needs Curator approval James Hejtmancik
?/. 1 - c.444_452del r.(?) p.(Asp148_Asp150del) - VUS g.197297925_197297933del g.197328795_197328803del NM_201253, c.444_452del, p.Asp148_Asp150del - CRB1_000425 - PubMed: Ezquerra-Inchausti 2018 - - Germline yes - - - - LOVD
+?/. 4 2 c.455G>A r.(?) p.(Cys152Tyr) ACMG likely pathogenic g.197297936G>A g.197328806G>A - - CRB1_000218 - Sharon, submitted, PubMed: Beryozkin 2013, PubMed: Huang 2014, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - Global Variome, with Curator vacancy, Dror Sharon, Frans Cremers
+?/. 1 2 c.470G>C r.(?) p.(Cys157Ser) - likely pathogenic g.197297951G>C g.197328821G>C - - CRB1_000025 - PubMed: Henderson 2010 - - Germline - - - - - Johan den Dunnen
+/., +?/. 8 2 c.481dup r.(?) p. (Ala161Glyfs*8), p.(Ala161Glyfs*8) - likely pathogenic, pathogenic g.197297962dup g.197328832dup c.478-481 insG FS, c.481dupG, CRB1 Ex.2 c.481dup p.(Ala161Glyfs*8), Ex.7 c.2488A>T p.(Ile830Phe), 1 more item - CRB1_000209 compound heterozygous, unknown variant 2nd chromosome PubMed: Bernal 2003, PubMed: Corton 2013, PubMed: Martin Merida 2019, PubMed: Vallespin 2007 - - Germline yes - - - - Frans Cremers
+?/. 2 2 c.481G>A r.(?) p.(Ala161Thr) ACMG likely pathogenic g.197297962G>A g.197328832G>A CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?), CRB1:NM_201253 c.G481A, p.A161T - CRB1_000452 compound heterozygous, heterozygous, individual solved, variant causal PubMed: Martin Merida 2019, PubMed: Rodriguez-Munoz 2020 - - Germline, Germline/De novo (untested) ?, yes - - - - LOVD
+/., +?/. 3 2 c.482C>T r.(?) p.(Ala161Val) - likely pathogenic, pathogenic g.197297963C>T g.197328833C>T 617C>T, c.482C>T - CRB1_000210 not in 100 controls PubMed: Collin-2011, PubMed: den Hollander 1999 - - Germline - 0/360 controls BceAI-;HaeIII-;NlaIV-;Sau96I- - - Frans Cremers
-?/. 1 - c.483C>T r.(?) p.(Ala161=) - likely benign g.197297964C>T g.197328834C>T CRB1(NM_001257965.2):c.276C>T (p.A92=) - CRB1_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., -/., -?/., ?/. 10 2 c.484G>A r.(?) p.(Val162Met), p.Val162Met) - benign, likely benign, likely pathogenic, VUS g.197297965G>A g.197328835G>A c.484G>A, c.619G>A, CRB1(NM_001257965.1):c.277G>A (p.V93M) - CRB1_000035 conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; Clinindb (India), 3 more items PubMed: Mckay 2005, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Neveling 2012, 1 more item - rs137853138 CLASSIFICATION record, Germline, Unknown no 3/2795 individuals CviAII+;FatI+;NlaIII+;BceAI- - - Kornelia Neveling, Frans Cremers, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Mohammed Faruq
+?/. 1 - c.487T>G r.(?) p.(Cys163Gly) ACMG likely pathogenic g.197297968T>G g.197328838T>G CRB1:NM_201253 c.T487G, p.C163G - CRB1_000475 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - LOVD
+/. 3 - c.493_501del r.(?) p.(Ile167_Gly169del) - pathogenic (recessive) g.197297974_197297982del, g.197297979_197297987del g.197328849_197328857del 1:197297973GGATGGAATT>G ENST00000367400.3:c.498_506delAATTGATGG (Ile167_Gly169del) - CRB1_000211, CRB1_000326 - PubMed: Carss 2017, PubMed: Zaneveld 2015 - - Germline - - - - - LOVD
+/., +?/., ?/. 42 2 c.498_506del r.(?) p.(Ile167_Gly169del), p.Ile167_Gly169del ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive), VUS g.197297979_197297987del, g.197328849_197328857del g.197328849_197328857del 493_501delGATGGAATT, 493_501delGATGGAATT/1183G>A, c.498_506del, c.498_506del9, 9 more items - CRB1_000211, CRB1_000241 compound heterozygous, heterozygous, homozygous, no genotypes reported, solved, compound heterozygous, 5 more items PubMed: Birtel 2018, PubMed: Bravo-Gil 2017, PubMed: Corton 2013, PubMed: Gliem 2020, 14 more items - rs748136623 CLASSIFICATION record, Germline, Germline/De novo (untested), Unknown ?, yes 3/486 individuals MluCI- - - Andreas Laner, Frans Cremers, VKGL-NL_Rotterdam, VKGL-NL_AMC, Nereida Bravo Gil
+?/. 1 - c.498_510del r.(?) p.(Ile167ProfsTer35) - likely pathogenic g.197297979_197297991del g.197328849_197328861del 498_506delAATTGATGGTTA - CRB1_000356 - PubMed: Ellingford 2016 - - Germline - - - - - LOVD
+/., +?/. 6 2 c.506del r.(?) p.(Gly169Valfs*37) - likely pathogenic, pathogenic g.197297987del g.197328857del c.506del, CRB1, variant 1: c.506del/p.G169Vfs*37, variant 2: c. 3086T>A/p.V1029E, G169VfsX37, 1 more item - CRB1_000212 possibly solved, compound heterozygous, solved, compound heterozygous PubMed: Glockle 2013, PubMed: Stingl-2019, PubMed: Weisschuh 2020 - - Germline, Unknown ?, yes - - - - Frans Cremers
?/. 1 - c.508T>C r.(?) p.(Tyr170His) ACMG VUS g.197297989T>C g.197328859T>C CRB1 c.508T>C, p.(Tyr170His), c.2843G>A, p.(Cys948Tyr) - CRB1_000437 - PubMed: Jespersgaar 2019 - - Germline ? - - - - LOVD
?/. 1 - c.515G>C r.(?) p.(Cys172Ser) - VUS g.197297996G>C g.197328866G>C - - CRB1_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.519C>T r.(?) p.(Phe173=) - likely benign g.197298000C>T g.197328870C>T CRB1(NM_001257965.2):c.312C>T (p.F104=) - CRB1_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2 c.522T>A r.(?) p.(Cys174*) - pathogenic g.197298003T>A g.197328873T>A Cys174STOP - CRB1_000213 unknown variant 2nd chromosome PubMed: Stone 2007 - - Unknown - - - - - Frans Cremers
+/., +?/. 2 2 c.547T>C r.(?) p.(Cys183Arg) - likely pathogenic, pathogenic (recessive) g.197298028T>C g.197328898T>C c.547T>C - CRB1_000357 - PubMed: Maggi_2021, PubMed: Tiwari 2016 - - Germline - - - - - LOVD
+?/. 1 2 c.548G>A r.(?) p.(Cys183Tyr) - likely pathogenic g.197298029G>A g.197328899G>A c.548G>A, p.(Cys183Tyr) - CRB1_000453 Homozygous PubMed: Tayebi 2019 - - Germline yes - - - - LOVD
+?/. 9 2 c.584G>T r.(?) p.(Cys195Phe) - likely pathogenic, likely pathogenic (recessive) g.197298065G>T g.197328935G>T c.584G>T, Cys195Phe - CRB1_000214 unknown variant 2nd chromosome PubMed: den Hollander 2004, PubMed: Ellingford 2016, PubMed: Khan-2018, PubMed: Stone 2007, 2 more items - - Germline, Unknown - - Hpy188III+;HpyAV+;HpyCH4V-;LpnPI- - - Frans Cremers
?/. 1 - c.586A>G r.(?) p.(Lys196Glu) - VUS g.197298067A>G g.197328937A>G - - CRB1_000274 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/., -?/. 2 - c.600A>G r.(?) p.(Thr200=) - benign, likely benign g.197298081A>G g.197328951A>G CRB1(NM_001257965.1):c.393A>G (p.T131=), CRB1(NM_001257965.2):c.393A>G (p.T131=) - CRB1_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 2 c.610_612del r.(?) p.(Glu204del) - likely pathogenic g.197298091_197298093del g.197328961_197328963del p.Glu204del7 - CRB1_000215 - PubMed: Aleman 2011 - - Germline - - - - - Frans Cremers
+/. 1 2 c.611_617delAAATAGG r.(?) p.(Ile205Aspfs*13) - pathogenic g.197298092_197298098delAAATAGG - c.611_617delAAATAGG - CRB1_000423 - PubMed: Avila Fernandez 2010 - - Germline - - - - - LOVD
+/. 1 - c.612_621del r.(?) p.(Glu204Aspfs*13) - pathogenic g.197298093_197298102del - CRB1(NM_001257965.2):c.405_414delAATAGGAAGA (p.E135Dfs*13) - CRB1_000448 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 34 2 c.613_619del r.(?) p.(Ile205Aspfs*13), p.(Ile205AspfsTer13) ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, pathogenic (recessive) g.197298094_197298100del g.197328964_197328970del 610_616delGAAATAG, 611_617del, 613_619delATAGGAA, 7 bp del 204-07, 7 bp del 204-207, 7 bp del 612-619, 12 more items - CRB1_000175 compound heterozygous, homozygous, not in 180 controls, not in 96 controls, 2 more items PubMed: Avila-Fernandez 2010, PubMed: Bravo-Gil 2017, PubMed: Bujakowska 2012, PubMed: Consugar 2015, 15 more items - - Germline, Germline/De novo (untested), Unknown ?, yes 1/143 cases, 2/190 cases - - - Johan den Dunnen, Frans Cremers, Nereida Bravo Gil
+/., +?/., ?/. 20 2 c.614T>C r.(?) p.(Ile205Thr), p.Ile205Thr ACMG likely pathogenic, likely pathogenic (recessive), pathogenic, VUS g.197298095T>C g.197328965T>C ATA>ACA, c.614T>C, CRB1 c.614T>C, p.(Ile205Thr), CRB1:NM_201253 c.T614C, p.I205T, 1 more item - CRB1_000002 heterozygous, individual solved, variant non-causal, single heterozygous variant (recessive), 4 more items PubMed: Bernal 2003, PubMed: Booij 2011, PubMed: Costa 2017, PubMed: Henderson 2010, 6 more items - - CLASSIFICATION record, Germline ?, no 1/899 cases LpnPI+ - - Global Variome, with Curator vacancy, Johan den Dunnen, Kornelia Neveling, Frans Cremers, VKGL-NL_Rotterdam, VKGL-NL_AMC
+/., ?/. 2 2 c.631A>T r.(?) p.(Ile211Phe) - pathogenic (recessive), VUS g.197298112A>T g.197328982A>T CRB1 p.Ile211Phe, p.Ile211Phe - CRB1_000177 unknown variant 2nd chromosome PubMed: Anasagasti 2013, PubMed: Anasagasti-2013 - - Germline yes 0.01, 0.33 - - - Frans Cremers
+/. 1 - c.635G>A r.(?) p.(Cys212Tyr) - pathogenic (recessive) g.197298116G>A g.197328986G>A - - CRB1_000397 - PubMed: Zaneveld 2015 - - Germline - - - - - LOVD
+/. 1 - c.652+1del r.spl? p.(Gly218ValfsTer2) - pathogenic g.197298134del g.197329004del - - CRB1_000275 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+?/. 1 - c.652+1_652+4del r.spl p.? - likely pathogenic g.197298136_197298139del g.197329006_197329009del - - CRB1_000179 - PubMed: Oishi 2016 - - Germline - - - - - LOVD
+/. 1 2i c.652+2dup r.spl p.? - pathogenic g.197298135dup g.197329005dup c.652+1_652+2insT - CRB1_000178 - PubMed: Kuniyoshi 2015 - - Germline - - - - - Frans Cremers
+/. 1 2i c.652+3_652+6del r.spl p.? - pathogenic g.197298136_197298139del g.197329006_197329009del c.652+1_652+4delGTAA - CRB1_000179 - PubMed: Kuniyoshi 2015 - - Germline - - - - - Frans Cremers
+?/. 2 2i c.653-1G>T r.(?) p.(?) - likely pathogenic g.197313410G>T g.197344280G>T CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?), 1 more item - CRB1_000454 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - LOVD
+/. 1 - c.663T>A r.(?) p.(Cys221Ter) - pathogenic g.197313421T>A g.197344291T>A - - CRB1_000381 - PubMed: Wang 2015 - - Germline - - - - - LOVD
+/. 1 - c.663_664del r.(?) p.(Cys221*) - pathogenic g.197313421_197313422del g.197344291_197344292del c.663_664del, p.Cys221Ter - CRB1_000480 heterozygous PubMed: Zampaglione-2020 - - Unknown ? - - - - LOVD
+?/., ?/. 8 - c.664G>A r.(?) p.(Glu222Lys) - likely pathogenic (recessive), VUS g.197313422G>A g.197344292G>A CRB1 c.664G>A, p.E222K - CRB1_000276 no zygosity and pathogenicity classification indicated PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Ng 2021, PubMed: Xu 2014 - rs114846212 Germline, Unknown ? 37/1204 cases with retinitis pigmentosa, 6/314 case chromosomes - - - Yoshito Koyanagi
+/. 1 3 c.668dupT r.(?) p.(Leu223PhefsTer4) ACMG pathogenic g.197313426dup g.197344296dup c.668dupT - CRB1_000418 heterozygous, causative variant PubMed: Hosono2018 - - Germline yes - - - - LOVD
?/. 1 - c.709G>C r.(?) p.(Ala237Pro) - VUS g.197313467G>C - CRB1(NM_001257965.1):c.502G>C (p.A168P) - CRB1_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.715T>C r.(?) p.(Cys239Arg) - likely pathogenic g.197313473T>C g.197344343T>C c.715T>C, p.(Cys239Arg) - CRB1_000455 heterozygous PubMed: Wang 2019 - - Germline ? - - - - LOVD
+?/. 1 3 c.717_718insG r.(?) p.(Gln240Alafs*21) - likely pathogenic g.197313475_197313476insG g.197344345_197344346insG Q240fsX20* - CRB1_000014 - PubMed: Henderson 2010 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.733del r.(?) p.(Ala245Profs*57) - pathogenic g.197313491del - c.733del - CRB1_000532 - PubMed: Stingl-2019 - - Germline - - - - - LOVD
+/. 1 3 c.733dupG r.(?) p.(Ala245GlyfsTer16) ACMG pathogenic g.197344361dup g.197313491dup c.733dupG - CRB1_000419 heterozygous, causative variant PubMed: Hosono2018 - - Germline yes - - - - LOVD
+?/+? 1 3 c.749_751del r.(?) p.(Cys250_Ala251delinsSer) - likely pathogenic (recessive) g.197313507_197313509del - 749del3bp - CRB1_000403 - PubMed: Jacobson 2007 - - Germline - - - - - Julia Lopez
+/., +?/. 14 3 c.750T>G r.(?) p.(Cys250Trp) - likely pathogenic, pathogenic g.197313508T>G g.197344378T>G 885T>G - CRB1_000009 not in 100 controls PubMed: den Hollander 1999, PubMed: Henderson 2010 - - Germline - - ApaI+;BanII+;BmrI+;BsrI+;PspOMI+;HpyCH4III- - - Johan den Dunnen, Frans Cremers
?/. 1 - c.757G>A r.(?) p.(Gly253Arg) - VUS g.197313515G>A g.197344385G>A - - CRB1_000277 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.781+2T>A r.spl p.? ACMG pathogenic g.197313541T>A - - - CRB1_000318 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - Global Variome, with Curator vacancy
+/., +?/. 2 3 c.803_806del r.(?) p.(Ser268Asnfs*33) - likely pathogenic, pathogenic g.197313561_197313564del g.197344431_197344434del c.803_806del, CRB1, variant 1: c.803_806del/p.S268Nfs*33, variant 2: c.2234C>T/p.T745M - CRB1_000488 solved, compound heterozygous PubMed: Stingl-2019, PubMed: Weisschuh 2020 - - Germline, Unknown ? - - - - LOVD
?/. 1 - c.807dup r.(?) p.(Pro270Thrfs*16) - VUS g.197313565dup g.197344435dup 807dupA - CRB1_000358 - PubMed: Ellingford 2016 - - Germline - - - - - LOVD
+/. 1 3 c.820-8C>T r.spl? p.? - pathogenic (recessive) g.197313570C>T - c.820-8C>Tdel2123C - CRB1_000451 - PubMed: Anasagasti-2013 - rs73071678 Germline yes 0.01 - - - LOVD
+?/. 1 - c.848+1G>A r.spl p.? - likely pathogenic g.197313607G>A g.197344477G>A - - CRB1_000353 - PubMed: Bravo-Gil 2017 - - Germline - - - - - Nereida Bravo Gil
+?/., ?/. 2 - c.849-26A>G r.(=), r.spl? p.(=), p.? - likely pathogenic, VUS g.197316444A>G g.197347314A>G - - CRB1_000256 VKGL data sharing initiative Nederland PubMed: Haer-Wigman 2017 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.853A>C r.(?) p.(Ser285Arg) - likely pathogenic g.197316474A>C g.197347344A>C CRB1 c.853A>C, p.S285R - CRB1_000550 single allele in a recessive disease; heterozygous PubMed: Wiszniewski 2011 - - Unknown ? - - - - LOVD
+/. 1 - c.858T>A r.(?) p.(Cys286*) ACMG pathogenic g.197316479T>A g.197347349T>A CRB1 c.858T>A(;)4007T>C, V1: c.858T>A, (p.Cys286Ter) - CRB1_000526 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - LOVD
+?/., -/., -?/., ?/. 10 4 c.866C>T r.(?) p.(Thr289Met) - benign, likely benign, likely pathogenic, VUS g.197316487C>T g.197347357C>T 866C>T, Thr289Met - CRB1_000180 unknown variant 2nd chromosome PubMed: Holtan 2020, PubMed: li 2011, PubMed: Lotery 2001, PubMed: Simonelli 2007, PubMed: Stone 2007, 1 more item - - Germline, Unknown - 1/190 cases, 1/87 cases; 0/96 controls, 2/899 cases CviAII+;FatI+;NlaIII+;BsgI- - - Global Variome, with Curator vacancy, Frans Cremers
+?/. 1 4 c.929G>A r.(?) p.(Cys310Tyr) - likely pathogenic g.197316550G>A g.197347420G>A - - CRB1_000219 - PubMed: Coppieters 2010 - - Unknown - - Tsp45I- - - Frans Cremers
+/., +?/. 2 4 c.936T>G r.(?) p.(Asn312Lys) - likely pathogenic, pathogenic g.197316557T>G g.197347427T>G - - CRB1_000027 - PubMed: Henderson 2010, PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen
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