Full data view for gene CRYBB2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000496.2 transcript reference sequence.

101 entries on 2 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     
-/. 1i c.-27+77A>G r.(=) p.(=) Parent #1 - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 5-generation family, 9 affecteds - - India - - - - - 9 Johan den Dunnen
-/. 1i c.-27+77A>G r.(=) p.(=) Unknown - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - 06/07/15 - - - DNA SEQ - - CTRCT - - different families - - India - - - - - 6 Johan den Dunnen
-/. 1i c.-27+77A>G r.(=) p.(=) Unknown - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 8 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 1i c.-27+77A>G r.(=) p.(=) Unknown - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 1i c.-27+77A>G r.(=) p.(=) Unknown - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 2-generation family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 1i c.-27+77A>G r.(=) p.(=) Unknown - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 1i c.-27+77A>G r.(=) p.(=) Unknown - benign g.25615710A>G g.25219743A>G IVS1+84A>G (Z99919.1:65894A>G) - CRYBB2_000001 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 1 affected - - India - - - - - 1 Johan den Dunnen
+/. 2 c.5C>T r.(?) p.(Ala2Val) Parent #1 - pathogenic g.25617401C>T g.25221434C>T - - CRYBB2_000027 not in 200 control chromosomes PubMed: Yao 2011 - - Germline yes - HaeIII+ - - DNA PCR - - CCTRCT 21245961-FamPatIII9 PubMed: Yao 2011 4-generation family, 9affecteds (6F, 3M), PatIII9 M - China Chinese - - - - 9 Jamie Zeegers
?/. 2 c.14A>T r.(?) p.(His5Leu) Unknown - VUS g.25617410A>T g.25221443A>T - - CRYBB2_000022 - - - rs7291633 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - no (pedigree) - 1 Stefan Aretz
+?/. - c.107_115delinsCGAGTTTCCAACCTGAAGTTT r.(?) p.(Gly36_Pro39delinsAlaSerPheGlnProGluValSer) Unknown - likely pathogenic g.25620937_25620945delinsCGAGTTTCCAACCTGAAGTTT g.25224970_25224978delinsCGAGTTTCCAACCTGAAGTTT CRYBB2 (NM_000496.2):c.107_115delGGCCCTGCCinsCGAGTTTCCAACCTGAAGTTT - CRYBB2_000040 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 148 - - - DNA SEQ-NG-I blood - ? WHP48 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+?/. - c.152C>T r.(?) p.(Ser51Phe) Unknown - likely pathogenic g.25620982C>T g.25225015C>T CRYBB2(NM_000496.2):c.152C>T(p.S51F) - CRYBB2_000041 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 139 - - - DNA SEQ-NG-I blood - ? WHP39 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
+?/. - c.160G>C r.(?) p.(Val54Leu) Unknown - VUS g.25620990G>C g.25225023G>C - - CRYBB2_000033 - PubMed: Cox 2019 - - Germline - - - - - DNA SEQ-NG-I - - CLP Fam22 PubMed: Cox 2019 3-generation family, 3 affected (2F, M) F;M - Colombia - - - - - 3 Timothy Cox
+?/. - c.173+1G>A r.spl? p.? Unknown - likely pathogenic g.25621004G>A g.25225037G>A - - CRYBB2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.173+1G>A r.spl? p.? Unknown - pathogenic g.25621004G>A g.25225037G>A - - CRYBB2_000031 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 3858 PubMed: Haer-Wigman 2017 family - no Netherlands - - - - - 1 LOVD
-/. 3i c.173+120C>A r.(=) p.(=) Parent #1 - benign g.25621123C>A g.25225156C>A IVS3+120C>A - CRYBB2_000018 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 5-generation family, 9 affecteds - - India - - - - - 9 Johan den Dunnen
-/. 3i c.173+120C>A r.(=) p.(=) Maternal (confirmed) - benign g.25621123C>A g.25225156C>A IVS3+120C>A - CRYBB2_000018 - PubMed: Graw 2006 - - Germline - - - - - DNA SEQ - - CTRCT - - - - - Germany - - - - - 1 Johan den Dunnen
-/. 3i c.174-476G>A r.(=) p.(=) Unknown - benign g.25623344G>A g.25227377G>A IVS3-476A>T - CRYBB2_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 3i c.174-337G>A r.(=) p.(=) Maternal (confirmed) - benign g.25623483G>A g.25227516G>A IVS3-337G>A - CRYBB2_000005 - PubMed: Graw 2006 - - Germline - - - - - DNA SEQ - - CTRCT - - - - - Germany - - - - - 1 Johan den Dunnen
-/. 3i c.174-337G>A r.(=) p.(=) Parent #1 - benign g.25623483G>A g.25227516G>A IVS3-337G>A - CRYBB2_000005 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 5-generation family, 9 affecteds - - India - - - - - 9 Johan den Dunnen
-/. 3i c.174-337G>A r.(=) p.(=) Unknown - benign g.25623483G>A g.25227516G>A IVS3-337G>A - CRYBB2_000005 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 3i c.174-337G>A r.(=) p.(=) Unknown - benign g.25623483G>A g.25227516G>A IVS3-337G>A - CRYBB2_000005 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
?/. 4 c.193G>T r.(?) p.(Ala65Ser) Unknown - VUS g.25623839G>T g.25227872G>T - - CRYBB2_000023 - - - rs16986560 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - no (pedigree) - 1 Stefan Aretz
-?/. - c.200G>T r.(?) p.(Cys67Phe) Unknown - likely benign g.25623846G>T g.25227879G>T CRYBB2(NM_000496.2):c.200G>T (p.(Cys67Phe)) - CRYBB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229G>A r.(?) p.(Gly77Ser) Unknown - VUS g.25623875G>A - CRYBB2(NM_000496.2):c.229G>A (p.G77S) - CRYBB2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.230G>A r.(?) p.(Gly77Asp) Maternal (confirmed) - likely pathogenic g.25623876G>A g.25227909G>A CRYBB2 c.230G>A, p.(Gly77Asp) - CRYBB2_000039 heterozygous, present in affected mother PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 9 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.230G>A r.(?) p.(Gly77Asp) Maternal (confirmed) - likely pathogenic g.25623876G>A g.25227909G>A CRYBB2 c.230G>A, p.(Gly77Asp) - CRYBB2_000039 heterozygous, present in affected mother PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 9 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 5 c.355G>A r.(?) p.(Gly119Arg) Parent #1 - pathogenic g.25625451G>A g.25229484G>A - - CRYBB2_000025 - - - - Germline - - - - - DNA SEQ - - CTRCT - - - F no China - - - - - 1 Juhua Yang
+/. - c.355G>A r.(?) p.(Gly119Arg) Parent #1 - pathogenic g.25625451G>A g.25229484G>A - - CRYBB2_000025 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs864309698 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.355G>A r.(?) p.(Gly119Arg) Unknown - likely pathogenic g.25625451G>A g.25229484G>A CRYBB2 c.355G>A, p.(Gly119Arg) - CRYBB2_000025 heterozygous PubMed: Bell 2021 - - De novo yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 22 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.355G>A r.(?) p.(Gly119Arg) Paternal (inferred) - likely pathogenic g.25625451G>A g.25229484G>A CRYBB2 c.355G>A, p.Pro542LeufsTer35 - CRYBB2_000025 heterozygous, present in affected sister PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 40 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.355G>A r.(?) p.(Gly119Arg) Paternal (inferred) - likely pathogenic g.25625451G>A g.25229484G>A CRYBB2 c.355G>A, p.Pro542LeufsTer35 - CRYBB2_000025 heterozygous, present in affected sister PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 40 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. 5 c.383A>T r.(?) p.(Asp128Val) Parent #1 - pathogenic g.25625479A>T g.25229512A>T 383A>T - CRYBB2_000009 not in 192 control chromosomes PubMed: Pauli 2007 - - Germline - - TaiI+ - - DNA SEQ - - CTRCT - PubMed: Pauli 2007 mother, has affected son and daugther - - Germany - - - - - 3 Johan den Dunnen
+/. 5 c.428C>T r.(?) p.(Ser143Phe) Parent #1 - pathogenic g.25625524C>T g.25229557C>T - - CRYBB2_000030 - PubMed: Faletra 2013, Journal: Faletra 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatIII1 M no Italy Italian - - - - 1 Jamie Zeegers
+/. 5 c.428C>T r.(?) p.(Ser143Phe) Parent #1 - pathogenic g.25625524C>T g.25229557C>T - - CRYBB2_000030 - PubMed: Faletra 2013, Journal: Faletra 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatIII2 M no Italy Italian - - - - 1 Jamie Zeegers
+/. 5 c.428C>T r.(?) p.(Ser143Phe) Parent #1 - pathogenic g.25625524C>T g.25229557C>T - - CRYBB2_000030 - PubMed: Faletra 2013, Journal: Faletra 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatIII3 F no Italy Italian - - - - 1 Jamie Zeegers
+/. 5 c.428C>T r.(?) p.(Ser143Phe) Parent #1 - pathogenic g.25625524C>T g.25229557C>T - - CRYBB2_000030 - PubMed: Faletra 2013, Journal: Faletra 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, PatII2 (son) M no Italy Italian - - - - 1 Jamie Zeegers
+/. 5 c.428C>T r.(?) p.(Ser143Phe) Parent #1 - pathogenic g.25625524C>T g.25229557C>T - - CRYBB2_000030 - PubMed: Faletra 2013, Journal: Faletra 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Faletra 2013, Journal: Faletra 2013 3-generation family, 5 affecteds (2F, 3M), mother, son and 3 grand children, PatI2 (mother) F no Italy Italian - - - - 5 Jamie Zeegers
+?/. 5 c.433C>T r.(?) p.(Arg145Trp) Parent #1 - likely pathogenic g.25625529C>T g.25229562C>T - - CRYBB2_000020 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 PubMed: Hansen 2009 - rs2330991 Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
+?/. 5 c.440A>G r.(?) p.(Gln147Arg) Parent #1 - likely pathogenic g.25625536A>G g.25229569A>G - - CRYBB2_000010 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 PubMed: Hansen 2009 - rs2330992 Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
+?/. 5 c.449C>T r.(spl?) p.(Tyr150Met) Parent #1 - likely pathogenic g.25625545C>T g.25229578C>T - - CRYBB2_000011 not in 100 control chromosomes; origin probable gene conversion with CRYBB2P1 PubMed: Hansen 2009 - rs4049504 Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+8C>T r.(=) p.(=) Maternal (confirmed) - benign g.25625553C>T g.25229586C>T IVS5+8C>T - CRYBB2_000016 - PubMed: Graw 2006 - - Germline - - - - - DNA SEQ - - CTRCT - - - - - Germany - - - - - 1 Johan den Dunnen
-/. 5i c.449+9G>A r.(?) p.(=) Unknown - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 - PubMed: Santhiya 2004 - rs55700037 Germline - 04/05/15 - - - DNA SEQ - - CTRCT - - different families - - India - - - - - 4 Johan den Dunnen
-/. 5i c.449+9G>A r.(=) p.(=) Paternal (confirmed) - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 homozygous in father PubMed: Graw 2006 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - - - - Germany - - - - - 1 Johan den Dunnen
-/. 5i c.449+9G>A r.(=) p.(=) Parent #1 - benign g.25625554G>A g.25229587G>A - - CRYBB2_000006 - PubMed: Hansen 2009 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+9G>A r.(=) p.(=) Parent #2 - benign g.25625554G>A g.25229587G>A - - CRYBB2_000006 - PubMed: Hansen 2009 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+9G>A r.(?) p.(=) Unknown - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 - PubMed: Santhiya 2004 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 8 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 5i c.449+9G>A r.(?) p.(=) Unknown - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 - PubMed: Santhiya 2004 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 5i c.449+9G>A r.(?) p.(=) Unknown - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 - PubMed: Santhiya 2004 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - 2-generation family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 5i c.449+9G>A r.(?) p.(=) Unknown - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 - PubMed: Santhiya 2004 - rs55700037 Germline - - - - - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
-/. - c.449+9G>A r.(=) p.(=) Unknown - benign g.25625554G>A g.25229587G>A CRYBB2(NM_000496.3):c.449+9G>A - CRYBB2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.449+27C>G r.(=) p.(=) Parent #1 - benign g.25625572C>G g.25229605C>G - - CRYBB2_000012 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+61G>A r.(=) p.(=) Parent #1 - benign g.25625606G>A g.25229639G>A - - CRYBB2_000013 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+61G>A r.(=) p.(=) Parent #2 - benign g.25625606G>A g.25229639G>A - - CRYBB2_000013 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+66G>A r.(=) p.(=) Parent #1 - benign g.25625611G>A g.25229644G>A - - CRYBB2_000014 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+66G>A r.(=) p.(=) Parent #2 - benign g.25625611G>A g.25229644G>A - - CRYBB2_000014 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - affected mother and daugther F - Denmark - - - - - 2 Johan den Dunnen
-/. 5i c.449+82G>A r.(?) p.(=) Unknown - benign g.25625627G>A g.25229660G>A IVS5+82G>A - CRYBB2_000007 - PubMed: Santhiya 2004 - - Germline - 01/05/15 - - - DNA SEQ - - CTRCT - - - - - India - - - - - 1 Johan den Dunnen
-/. 5i c.449+82G>A r.(?) p.(=) Unknown - benign g.25625627G>A g.25229660G>A IVS5+82G>A - CRYBB2_000007 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
+/. 5i c.(450-2A>T) r.(449_450ins[450-57_450-3;ug]) p.(Thr150_Trp151ins17) Parent #1 - pathogenic g.25627569A>T g.25231602A>T mouse - CRYBB2_000000 O377 mouse, radiation induced PubMed: Ganguly 2008 - - animal model - - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - PubMed: Ganguly 2008 - - - - (not applicable) - - - - - 1 Johan den Dunnen
+/. 6 c.453G>C r.(?) p.(Trp151Cys) Parent #1 - pathogenic g.25627574G>C g.25231607G>C 465G>C - CRYBB2_000029 - PubMed: Chen 2013, Journal: Chen 2013 - - Germline yes - BslI- - - DNA PCR - - CCTRCT 24312286-FamPatIII30 PubMed: Chen 2013, Journal: Chen 2013 4-generation family, 22 affecteds (11F, 11M), PatIII30 F - China Chinese >12y - - - 22 Jamie Zeegers
+/. 6 c.453G>T r.(?) p.(Trp151Cys) Parent #1 - pathogenic g.25627574G>T g.25231607G>T 465G>T - CRYBB2_000017 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 5-generation family, 9 affecteds - - India - - - - - 9 Johan den Dunnen
+?/. 6 c.455T>G r.(?) p.(Val152Gly) Parent #1 - likely pathogenic g.25627576T>G g.25231609T>G - - CRYBB2_000026 - PubMed: Gillespie 2014, Journal: Gillespie 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - CCTRCT - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected mother F no - - - - - - 2 Johan den Dunnen
+/. 6 c.463C>A r.(?) p.(Gln155Lys) Parent #1 - pathogenic g.25627584C>A g.25231617C>A - - CRYBB2_000024 - - - - Germline - - - - - DNA SEQ - - CTRCT - - - F no China - - - - - 1 Juhua Yang
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 62 control chromosomes PubMed: Litt 1997, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - 4-generation family, 18 affecteds (1 homozygous) - - United States - - - - - 17 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes PubMed: Gill 2000, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 13 affecteds - - Switzerland - - - - - 13 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage (LOD score 6.26); not in 200 control chromosomes PubMed: Yao 2005 - - Germline - - SpeI+ - - DNA SEQ - - CTRCT - - 5-generation family, 19 affecteds - - China - - - - - 19 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage; origin probable gene conversion with CRYBP1 PubMed: Vanita 2001, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - 5-generation family, 33 affecteds - - India - - - - - 33 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Paternal (confirmed) - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 62 control chromosomes PubMed: Litt 1997, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - homozygous case Fam ADCC-1 - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes PubMed: Gill 2000 - - Germline - - - - - DNA SEQ - - CTRCT - - unrelated patient - - Switzerland - - - - - 1 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 mapped by linkage (LOD score 4.14); not in 230 control chromosomes PubMed: Gill 2000, OMIM:var0001 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 13 affecteds - - Switzerland - - - - - 13 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage (LOD score 7.95); origin probable gene conversion with CRYBP1 PubMed: Bateman 2007 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 19 affecteds - - Chile - - - - - 19 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T - CRYBB2_000002 mapped by linkage (LOD score 2.11); not in 200 control chromosomes PubMed: Li 2008 - - Germline - - - - - DNA DHPLC, SEQ - - CTRCT - PubMed: Li 2008 5-generation family, 18 affecteds - - China - - - - - 18 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 100 control chromosomes PubMed: Devi 2008 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 7 affecteds - - India - - - - - 7 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Maternal (confirmed) - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 not in 62 control chromosomes PubMed: Litt 1997, OMIM:var0001 - - Germline - - BfaI+ - - DNA SEQ - - CTRCT - - homozygous case Fam ADCC-1 - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.463C>T r.(?) p.(Gln155*) Parent #1 - pathogenic g.25627584C>T g.25231617C>T 475C>T (Q155*) - CRYBB2_000002 mapped by linkage (LOD score 7.95) PubMed: Bateman 2007, Journal: Bateman 2007 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT - PubMed: Bateman 2007, Journal: Bateman 2007 5-generation family, 21 affecteds (8F, 13M) F;M no Chile - - - - - 21 Johan den Dunnen
+/. - c.463C>T r.(?) p.(Gln155Ter) Unknown - pathogenic g.25627584C>T g.25231617C>T - - CRYBB2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - M no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+/. - c.463C>T r.(?) p.(Gln155*) Unknown - pathogenic g.25627584C>T g.25231617C>T CRYBB2 c.463C>T, p.(Pro83AlafsTer100) - CRYBB2_000002 heterozygous, present in 4 affected relatives PubMed: Bell 2021 - - Germline yes - - - - DNA SEQ-NG blood targeted next-generation sequencing retinal disease 28 PubMed: Bell 2021 - F no (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.463C>T r.(?) p.(Gln155*) Unknown - likely pathogenic g.25627584C>T g.25231617C>T CRYBB2(NM_000496.2):c.463C>T(p.Q155*) - CRYBB2_000002 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 155 - - - DNA SEQ-NG-I blood - ? WHP55 PubMed: Sun 2018 - F - China - - - - - 1 LOVD
-/. 6 c.471C>T r.(?) p.(=) Parent #1 - benign g.25627592C>T g.25231625C>T 483C>T - CRYBB2_000019 origin probable gene conversion with CRYBP1 PubMed: Vanita 2001, OMIM:var0002 - - Germline - - MspI- - - DNA SEQ - - CTRCT - - 5-generation family, 33 affecteds - - India - - - - - 33 Johan den Dunnen
-/. 6 c.471C>T r.(?) p.(=) Parent #1 - benign g.25627592C>T g.25231625C>T 483C>T - CRYBB2_000019 origin probable gene conversion with CRYBP1 PubMed: Bateman 2007 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 19 affecteds - - Chile - - - - - 19 Johan den Dunnen
-/. 6 c.471C>T r.(?) p.(Pro157=) Parent #1 - benign g.25627592C>T g.25231625C>T 483C>T - CRYBB2_000019 - PubMed: Bateman 2007, Journal: Bateman 2007 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT - PubMed: Bateman 2007, Journal: Bateman 2007 5-generation family, 21 affecteds (8F, 13M) F;M no Chile - - - - - 21 Johan den Dunnen
-?/. - c.471C>T r.(?) p.(Pro157=) Unknown - likely benign g.25627592C>T g.25231625C>T CRYBB2(NM_000496.2):c.471C>T (p.P157=) - CRYBB2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475T>C r.(?) p.(Tyr159His) Unknown - VUS g.25627596T>C - - - CRYBB2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.477C>A r.(?) p.(Tyr159*) Parent #1 - pathogenic g.25627598C>A g.25231631C>A 498C>A - CRYBB2_000021 - PubMed: Hansen 2009 - - Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 2 affecteds (F) F - Denmark - - - - - 2 Johan den Dunnen
-/. 6 c.483G>A r.(?) p.(=) Unknown - benign g.25627604G>A g.25231637G>A 495A>G (G161G) - CRYBB2_000008 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 1 affected - - India - - - - - 1 Johan den Dunnen
-/. 6 c.483G>A r.(?) p.(=) Parent #1 - benign g.25627604G>A g.25231637G>A 495A>G (G161G) - CRYBB2_000008 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 5-generation family, 9 affecteds - - India - - - - - 9 Johan den Dunnen
-/. 6 c.483G>A r.(?) p.(=) Unknown - benign g.25627604G>A g.25231637G>A 495A>G (G161G) - CRYBB2_000008 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 4-generation family, 8 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 6 c.483G>A r.(?) p.(=) Unknown - benign g.25627604G>A g.25231637G>A 495A>G (G161G) - CRYBB2_000008 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - family, 3 affecteds - - India - - - - - 1 Johan den Dunnen
-/. 6 c.483G>A r.(?) p.(=) Unknown - benign g.25627604G>A g.25231637G>A 495A>G (G161G) - CRYBB2_000008 - PubMed: Santhiya 2004 - - Germline - - - - - DNA SEQ - - CTRCT - - 2-generation family, 2 affecteds - - India - - - - - 1 Johan den Dunnen
-/. - c.483G>A r.(?) p.(Gly161=) Unknown - benign g.25627604G>A g.25231637G>A - - CRYBB2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.487C>T r.(?) p.(Gln163*) Unknown - likely pathogenic g.25627608C>T g.25231641C>T CRYBB2(NM_000496.2):c.487C>T(p.Q163*) - CRYBB2_000042 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 153 - - - DNA SEQ-NG-I blood - ? WHP53 PubMed: Sun 2018 - M - China - - - - - 1 LOVD
+/. 6 c.(554_565del) r.(554_565del) p.(Gln185_Arg188del) Parent #1 - pathogenic g.25627675_25627686del g.25231708_25231719del mouse 577_588del - CRYBB2_000000 variant in Philly mouse PubMed: Chambers 1991 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - - - - - - (not applicable) - - - - - 1 Johan den Dunnen
+/. 6 c.559G>A r.(=) p.(Val187Met) Parent #1 - pathogenic g.25627680G>A g.25231713G>A 607G>A - CRYBB2_000015 - PubMed: Mothobi 2009 - - Germline - - NlaIII+ - - DNA SEQ - - CTRCT - - 3-generation family, 6 affecteds ? - Lesotho Basotho - - - - 6 Johan den Dunnen
+/. 6 c.(560G>A) r.(560G>A) p.(Val187Glu) Parent #1 - pathogenic g.25627681G>A g.25231714G>A mouse 553T>A - CRYBB2_000000 variant in Aey2 mouse, ENU indiced; mapped by linkage Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Graw 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - - - - - - (not applicable) - - - - - 1 Johan den Dunnen
+/. 6 c.(560G>A) r.(560G>A) p.(Val187Glu) Parent #1 - pathogenic g.25627681G>A g.25231714G>A mouse 553T>A - CRYBB2_000000 variant in Aey2 mouse, ENU indiced; mapped by linkage Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Graw 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - - - - - - (not applicable) - - - - - 1 Johan den Dunnen
+/. 6 c.(560G>A) r.(560G>A) p.(Val187Glu) Parent #2 - pathogenic g.25627681G>A g.25231714G>A mouse 553T>A - CRYBB2_000000 variant in Aey2 mouse, ENU indiced; mapped by linkage Variant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Graw 2001 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CTRCT - - - - - - (not applicable) - - - - - 1 Johan den Dunnen
+?/. 6 c.563G>A r.(?) p.(Arg188His) Parent #1 - likely pathogenic g.25627684G>A g.25231717G>A - - CRYBB2_000028 - PubMed: Weisschuh 2012 - - Germline yes - - - - DNA PCR, SEQ - - CCTRCT - PubMed: Weisschuh 2012 4-generation family, 11 affecteds (5F, 6M) , PatIV1 M - Croatia (Hrvatska) Croation - - - - 11 Jamie Zeegers
?/. - c.571C>T r.(?) p.(Arg191Cys) Unknown - VUS g.25627692C>T g.25231725C>T - - CRYBB2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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