Full data view for gene CRYBB1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001887.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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_6 c.-70_613{2} r.? p.? Paternal (confirmed) - likely pathogenic (dominant) g.26995600_27074521dup g.26599636_26678557dup - - CRYBB1_000008 79 kb tandem duplication CRYBB1-CRYBA4-MIAT resulting in partial duplication CRYBB1 PubMed: Siggs 2017, Journal: Siggs 2017 - - Germline yes - - - - DNA SEQ-NG-I - - CTRCT FamCSA106 PubMed: Siggs 2017, Journal: Siggs 2017 6-generation family, 17 affected (8F, 9M) F;M no Australia - - - - - 17 Owen Siggs
+/. 2 c.2T>A r.(?) p.0? Parent #1 - pathogenic g.27012282A>T g.26616318A>T - - CRYBB1_000006 mapped by linkage; not in 504 control chromosomes PubMed: Meyer 2009 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Meyer 2009 2-generation family, 4 affected brothers - yes United Kingdom (Great Britain) Somali - - - - 8 Johan den Dunnen
+/. 2 c.2T>A r.(?) p.0? Parent #2 - pathogenic g.27012282A>T g.26616318A>T - - CRYBB1_000006 mapped by linkage; not in 504 control chromosomes - - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Meyer 2009 2-generation family, 4 affected brothers - yes United Kingdom (Great Britain) Somali - - - - 8 Johan den Dunnen
-?/. - c.24G>A r.(?) p.(Ser8=) Unknown - likely benign g.27012260C>T g.26616296C>T CRYBB1(NM_001887.4):c.24G>A (p.S8=) - CRYBB1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29C>T r.(?) p.(Ser10Leu) Unknown - likely benign g.27012255G>A - CRYBB1(NM_001887.4):c.29C>T (p.S10L) - CRYBB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.52G>A r.(?) p.(Gly18Arg) Unknown - VUS g.27012232C>T g.26616268C>T - - CRYBB1_000007 - - - rs5761634 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - yes (pedigree) - 1 Stefan Aretz
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #1 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 6-generation family, 10 affecteds - yes Israel Bedouin - - - - 10 Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #1 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; linkage (LOD 6.57); not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 3-generation family, 6 affecteds - yes Israel Bedouin - - - - 12 Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #2 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 6-generation family, 10 affecteds - yes Israel Bedouin - - - - 10 Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) Parent #2 - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; linkage (LOD 6.57); not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - DNA DHPLC, SSCA, SEQ - - CTRCT - PubMed: Cohen 2007 3-generation family, 6 affecteds - yes Israel Bedouin - - - - 12 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA arraySNP, SEQ - - CTRCT Fam1 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 3 affected sibs (3M), unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam2 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT Fam3 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 3 affected sibs (2F, M), unaffected parents F;M - Saudi Arabia - - - - - 3 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam4 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam5 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT Fam6 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 6 affected sibs (4F, 2M), unaffected parents F;M yes Saudi Arabia - - - - - 6 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam7 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 2 affected sibs (2M), unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline yes - - - - DNA SEQ - - CTRCT Fam8 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam9 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171del r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Khan 2012, PubMed: Khan 2015 - - Germline - - - - - DNA SEQ - - CTRCT Fam10 PubMed: Khan 2012, PubMed: Khan 2015 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171delG r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Aldahmesh 2012 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-7 PubMed: Aldahmesh 2012 family - - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.171delG r.(?) p.(Asn58ThrfsTer107) Both (homozygous) - pathogenic (recessive) g.27012115del g.26616151del 171delG - CRYBB1_000001 - PubMed: Aldahmesh 2012 - - Germline - - - - - DNA SEQ - - CTRCT Cata_DGU-8 PubMed: Aldahmesh 2012 family - - Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.328C>T r.(?) p.(Arg110Cys) Unknown - likely benign g.27003957G>A g.26607993G>A CRYBB1(NM_001887.3):c.328C>T (p.(Arg110Cys)), CRYBB1(NM_001887.4):c.328C>T (p.R110C) - CRYBB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328C>T r.(?) p.(Arg110Cys) Unknown - benign g.27003957G>A g.26607993G>A CRYBB1(NM_001887.3):c.328C>T (p.(Arg110Cys)), CRYBB1(NM_001887.4):c.328C>T (p.R110C) - CRYBB1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>T r.(?) p.(Ser129Ile) Unknown - VUS g.27003899C>A - CRYBB1(NM_001887.4):c.386G>T (p.S129I) - CRYBB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394C>T r.(?) p.(Arg132Cys) Unknown - VUS g.27003891G>A - CRYBB1(NM_001887.4):c.394C>T (p.R132C) - CRYBB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403C>T r.(?) p.(Arg135Trp) Unknown - VUS g.27003882G>A g.26607918G>A CRYBB1(NM_001887.4):c.403C>T (p.R135W) - CRYBB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.454T>C r.(?) p.(Ser152Pro) Unknown ACMG VUS g.26997964A>G g.26602000A>G - - CRYBB1_000017 ACMG: PM2,PP3 - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.473dup r.(?) p.(Asn158LysfsTer24) Unknown ACMG VUS g.26997946dup g.26601982dup CRYBB1 c.473dupA p.(Asn158LysfsTer24) het - CRYBB1_000018 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - DNA SEQ-NG blood 144 genes panel tested retinal disease 17030224 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-?/. - c.654G>A r.(?) p.(Glu218=) Unknown - likely benign g.26995559C>T - CRYBB1(NM_001887.4):c.654G>A (p.E218=) - CRYBB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.658G>T r.(?) p.(Gly220*) Parent #1 - pathogenic g.26995555C>A g.26599591C>A - - CRYBB1_000002 mapped by linkage (LOD 2.09); not in 204 control chromosomes PubMed: Mackay 2002 - - Germline - - HpHI+ - - DNA SEQ - - CTRCT - PubMed: Mackay 2002 4-generation family, 8 affecteds - - United States - - - - - 8 Johan den Dunnen
+/. 6 c.658G>T r.(?) p.(Gly220*) Unknown - NA g.26995555C>A g.26599591C>A - - CRYBB1_000002 expression cloning E.coli, significantly less soluble PubMed: Mackay 2002 - - In vitro (cloned) - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - F - Germany - - - no (pedigree) - 1 Stefan Aretz
+/. 6 c.667C>T r.(?) p.(Gln223*) Parent #1 - pathogenic g.26995546G>A g.26599582G>A 737C>T - CRYBB1_000005 mapped by linkage (LOD 3.31); not in 200 control chromosomes PubMed: Yang 2008 - - Germline - - BfaI - - DNA SEQ - - CTRCT - PubMed: Yang 2008 3-generation family, 10 affecteds - - China - - - - - 10 Johan den Dunnen
+/. - c.667C>T r.(?) p.(Gln223Ter) Unknown - pathogenic (dominant) g.26995546G>A g.26599582G>A - - CRYBB1_000005 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam26297 PubMed: Jackson 2020 - - - India Asia - - - - 1 Johan den Dunnen
+/. - c.667C>T r.(?) p.(Gln223*) Unknown - pathogenic g.26995546G>A - - - CRYBB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.682T>C r.(?) p.(Ser228Pro) Parent #1 - pathogenic g.26995531A>G g.26599567A>G 752T>C - CRYBB1_000004 mapped by linkage (LOD 2.11); not in 200 control chromosomes PubMed: Wang 2007 - - Germline - - - - - DNA SEQ - - CTRCT - PubMed: Wang 2007 4-generation family, 7 affecteds - - China - - - - - 7 Johan den Dunnen
?/. - c.744A>G r.(?) p.(Thr248=) Unknown - VUS g.26995469T>C g.26599505T>C CRYBB1(NM_001887.4):c.744A>G (p.T248=) - CRYBB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.757T>C r.(?) p.(*253Argext*26) Parent #1 - pathogenic g.26995456A>G g.26599492A>G 827T>C - CRYBB1_000003 not in 418 control chromosomes PubMed: Willoughby 2005 - - Germline - - - - - DNA SSCA, SEQ - - CTRCT - PubMed: Willoughby 2005 3-generation family, 11 affecteds - - United Kingdom (Great Britain) - - - - - 11 Johan den Dunnen
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