All variants in the CRYBB1 gene

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.

23 entries on 1 page. Showing entries 1 - 23.
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Effect     

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     
+/. 2 c.2T>A r.(?) p.0? - pathogenic g.27012282A>T g.26616318A>T - - CRYBB1_000006 mapped by linkage; not in 504 control chromosomes PubMed: Meyer 2009 - - Germline - - - - - Johan den Dunnen
+/. 2 c.2T>A r.(?) p.0? - pathogenic g.27012282A>T g.26616318A>T - - CRYBB1_000006 mapped by linkage; not in 504 control chromosomes - - - Germline - - - - - Johan den Dunnen
-?/. - c.24G>A r.(?) p.(Ser8=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. - c.29C>T r.(?) p.(Ser10Leu) - likely benign g.27012255G>A - CRYBB1(NM_001887.4):c.29C>T (p.S10L) - CRYBB1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.52G>A r.(?) p.(Gly18Arg) - VUS g.27012232C>T g.26616268C>T - - CRYBB1_000007 - - - rs5761634 Germline - - - - - Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; linkage (LOD 6.57); not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - Johan den Dunnen
+/. 2 c.171del r.(?) p.(Asn58Thrfs*107) - pathogenic g.27012115del g.26616151del delG168 - CRYBB1_000001 homozygosity mapping; linkage (LOD 6.57); not in 200 control chromosomes PubMed: Cohen 2007 - - Germline - - - - - Johan den Dunnen
-?/. - c.328C>T r.(?) p.(Arg110Cys) - 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 - - - - - VKGL-NL_Leiden
-/. - c.328C>T r.(?) p.(Arg110Cys) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.386G>T r.(?) p.(Ser129Ile) - VUS g.27003899C>A - CRYBB1(NM_001887.4):c.386G>T (p.S129I) - CRYBB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.394C>T r.(?) p.(Arg132Cys) - VUS g.27003891G>A - CRYBB1(NM_001887.4):c.394C>T (p.R132C) - CRYBB1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.403C>T r.(?) p.(Arg135Trp) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.454T>C r.(?) p.(Ser152Pro) ACMG VUS g.26997964A>G g.26602000A>G - - CRYBB1_000017 ACMG: PM2,PP3 - - - Germline - - - - - Andreas Laner
?/. - c.473dup r.(?) p.(Asn158LysfsTer24) ACMG VUS g.26997946dup g.26601982dup CRYBB1 c.473dupA p.(Asn158LysfsTer24) het - CRYBB1_000018 heterozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD
-?/. - c.654G>A r.(?) p.(Glu218=) - likely benign g.26995559C>T - CRYBB1(NM_001887.4):c.654G>A (p.E218=) - CRYBB1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.658G>T r.(?) p.(Gly220*) - 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+ - - Johan den Dunnen
+/. 6 c.658G>T r.(?) p.(Gly220*) - NA g.26995555C>A g.26599591C>A - - CRYBB1_000002 expression cloning E.coli, significantly less soluble PubMed: Mackay 2002 - - In vitro (cloned) - - - - - Johan den Dunnen
+/. 6 c.667C>T r.(?) p.(Gln223*) - 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 - - Johan den Dunnen
+/. 6 c.682T>C r.(?) p.(Ser228Pro) - 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 - - - - - Johan den Dunnen
?/. - c.744A>G r.(?) p.(Thr248=) - 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 - - - - - VKGL-NL_Rotterdam
+/. 6 c.757T>C r.(?) p.(*253Argext*26) - pathogenic g.26995456A>G g.26599492A>G 827T>C - CRYBB1_000003 not in 418 control chromosomes PubMed: Willoughby 2005 - - Germline - - - - - Johan den Dunnen
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