All variants in the CRYBB3 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_004076.3 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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     
-/. - c.6G>A r.(?) p.(Ala2=) - benign g.25597369G>A g.25201402G>A CRYBB3(NM_004076.4):c.6G>A (p.A2=) - KIAA1671_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.72C>T r.(?) p.(Tyr24=) - likely benign g.25597435C>T g.25201468C>T CRYBB3(NM_004076.4):c.72C>T (p.Y24=) - KIAA1671_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 c.74A>G r.(?) p.(Lys25Arg) - likely pathogenic g.25597437A>G g.25201470A>G - - CRYBB3_000032 - PubMed: Liu 2023 rs749992336 rs749992336 De novo - - - - - Johan den Dunnen
-?/. - c.113G>A r.(?) p.(Arg38His) - likely benign g.25598678G>A - CRYBB3(NM_004076.4):c.113G>A (p.R38H) - CRYBB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.130G>A r.(?) p.(Glu44Lys) - VUS g.25598695G>A - CRYBB3(NM_004076.4):c.130G>A (p.E44K) - CRYBB3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.189C>T r.(?) p.(Ser63=) - likely benign g.25598754C>T g.25202787C>T CRYBB3(NM_004076.4):c.189C>T (p.S63=) - CRYBB3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.213C>T r.(?) p.(Ser71=) - likely benign g.25599748C>T - CRYBB3(NM_004076.4):c.213C>T (p.S71=) - CRYBB3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.221T>C r.(?) p.(Phe74Ser) - VUS g.25599756T>C g.25203789T>C CRYBB3(NM_004076.4):c.221T>C (p.F74S) - CRYBB3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.224G>A r.(?) p.(Arg76His) - pathogenic g.25599759G>A g.25203792G>A - - CRYBB3_000002 not in 476 control chromosomes PubMed: Hansen 2009 - - Germline - - - - - Johan den Dunnen
?/. - c.224G>T r.(?) p.(Arg75Leu) - VUS g.25599759G>T g.25203792G>T CRYBB3(NM_004076.4):c.224G>T (p.R75L) - CRYBB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.226G>A r.(?) p.(Gly76Arg) - pathogenic g.25599761G>A g.25203794G>A - - CRYBB3_000028 - PubMed: Li 2016 - - Germline - - - - - Johan den Dunnen
?/. - c.241_242dup r.(?) p.(Glu82Trpfs*27) - VUS g.25599776_25599777dup - CRYBB3(NM_004076.4):c.241_242dupCT (p.(Glu82fs)) - CRYBB3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.276G>A r.(?) p.(Trp92Ter) - VUS g.25599811G>A - CRYBB3(NM_004076.4):c.276G>A (p.W92*, p.(Trp92*)) - CRYBB3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.276G>A r.(?) p.(Trp92Ter) - VUS g.25599811G>A - CRYBB3(NM_004076.4):c.276G>A (p.W92*, p.(Trp92*)) - CRYBB3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 4 c.314G>A r.(?) p.(Arg105Gln) - VUS g.25599849G>A g.25203882G>A - - CRYBB3_000005 - - - rs17670506 Germline - - - - - Johan den Dunnen
-?/. - c.314G>A r.(?) p.(Arg105Gln) - likely benign g.25599849G>A g.25203882G>A - - CRYBB3_000005 118 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17670506 Germline - 118/2795 individuals - - - Mohammed Faruq
+/. - c.314G>A r.(?) p.(Arg105Gln) - pathogenic g.25599849G>A g.25203882G>A - - CRYBB3_000005 - PubMed: Li 2016 - - Germline - - - - - Johan den Dunnen
?/. 5 c.337C>G r.(?) p.(His113Asp) - VUS g.25601196C>G g.25205229C>G - - CRYBB3_000003 - - - rs9608378 Germline - - - - - Johan den Dunnen
-/. - c.337C>G r.(?) p.(His113Asp) - benign g.25601196C>G g.25205229C>G CRYBB3(NM_004076.5):c.337C>G (p.H113D) - CRYBB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.337C>G r.(?) p.(His113Asp) - benign g.25601196C>G g.25205229C>G CRYBB3(NM_004076.5):c.337C>G (p.H113D) - CRYBB3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.337C>G r.(?) p.(His113Asp) - likely benign g.25601196C>G g.25205229C>G - - CRYBB3_000003 - PubMed: Li 2019 - rs9608378 Germline - - - - - Johan den Dunnen
-?/. - c.337C>G r.(?) p.(His113Asp) - likely benign g.25601196C>G g.25205229C>G - - CRYBB3_000003 - PubMed: Li 2019 - rs9608378 Germline - - - - - Johan den Dunnen
-?/. - c.337C>G r.(?) p.(His113Asp) - likely benign g.25601196C>G g.25205229C>G - - CRYBB3_000003 - PubMed: Li 2019 - rs9608378 Germline - - - - - Johan den Dunnen
-?/. - c.337C>G r.(?) p.(His113Asp) - likely benign g.25601196C>G g.25205229C>G CRYBB2 - CRYBB3_000003 - PubMed: Li 2019 - rs4049505 Germline - - - - - Johan den Dunnen
?/. - c.344A>G r.(?) p.(Lys115Arg) - VUS g.25601203A>G g.25205236A>G - - CRYBB3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.380G>A r.(?) p.(Arg127His) - VUS g.25601239G>A - CRYBB3(NM_004076.4):c.380G>A (p.R127H) - CRYBB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.388G>A r.(?) p.(Glu130Lys) - VUS g.25601247G>A - CRYBB3(NM_004076.4):c.388G>A (p.(Glu130Lys)) - CRYBB3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.406G>A r.(?) p.(Val136Met) - VUS g.25601265G>A g.25205298G>A CRYBB3(NM_004076.4):c.406G>A (p.V136M) - CRYBB3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.455G>A r.(?) p.(Arg152His) - VUS g.25601314G>A - CRYBB3(NM_004076.4):c.455G>A (p.(Arg152His)) - CRYBB3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.466G>A r.(?) p.(Gly156Arg) - likely pathogenic g.25601325G>A g.25205358G>A CRYBB3 c.466G>A, p.(Gly156Arg) - CRYBB3_000023 heterozygous PubMed: Bell 2021 - - Germline yes - - - - LOVD
+?/. - c.466G>A r.(?) p.(Gly156Arg) - likely pathogenic g.25601325G>A g.25205358G>A CRYBB3(NM_004076.3):c.466G>A(p.G156R) - CRYBB3_000023 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 180 - - - LOVD
+/. - c.466G>A r.(?) p.(Gly156Arg) - pathogenic g.25601325G>A g.25205358G>A - - CRYBB3_000023 - PubMed: Li 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.466G>A r.(?) p.(Gly156Arg) - pathogenic g.25601325G>A g.25205358G>A - - CRYBB3_000023 - PubMed: Li 2016 - - Germline - - - - - Johan den Dunnen
+/. - c.466G>A r.(?) p.(Gly156Arg) - pathogenic (dominant) g.25601325G>A g.25205358G>A - - CRYBB3_000023 - PubMed: Jackson 2020 - - Germline - - - - - Johan den Dunnen
+?/. - c.466G>A r.(?) p.(Gly156Arg) - likely pathogenic g.25601325G>A - CRYBB3(NM_004076.5):c.466G>A (p.G156R) - CRYBB3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.466G>A r.(?) p.(Gly156Arg) - pathogenic (dominant) g.25601325G>A g.25205358G>A - - CRYBB3_000023 - PubMed: Taylan Sekeroglu 2020 - - Germline yes - - - - Johan den Dunnen
?/. - c.466G>A r.(?) p.(Gly156Arg) - VUS g.25601325G>A g.25205358G>A - - CRYBB3_000023 - PubMed: Reichsteiner 2021 - - De novo - - - - - Johan den Dunnen
+?/. - c.466G>C r.(?) p.(Gly156Arg) - likely pathogenic g.25601325G>C - - - CRYBB3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 6 c.475G>A r.(?) p.(Val159Ile) - VUS g.25603018G>A g.25207051G>A - - CRYBB3_000004 - - - rs4455261 Germline - - - - - Johan den Dunnen
-/. - c.475G>A r.(?) p.(Val159Ile) - benign g.25603018G>A g.25207051G>A CRYBB3(NM_004076.4):c.475G>A (p.V159I) - CRYBB3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.482_483dup r.(?) p.(Glu162MetfsTer?) - pathogenic g.25603025_25603026dup g.25207058_25207059dup CRYBB3(NM_004076.4):c.482_483dupAT (p.E162Mfs*?) - CRYBB3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.493G>C r.(?) p.(Gly165Arg) - pathogenic g.25603036G>C g.25207069G>C - - CRYBB3_000001 not in 250 control chromosomes PubMed: Riazuddin 2005, OMIM:var0001 - rs74315490 Germline - - - - - Johan den Dunnen
+/. 6 c.493G>C r.(?) p.(Gly165Arg) - pathogenic g.25603036G>C g.25207069G>C - - CRYBB3_000001 not in 250 control chromosomes PubMed: Riazuddin 2005, OMIM:var0001 - rs74315490 Germline - - - - - Johan den Dunnen
+/. 6 c.493G>C r.(?) p.(Gly165Arg) - pathogenic g.25603036G>C g.25207069G>C - - CRYBB3_000001 not in 250 control chromosomes PubMed: Riazuddin 2005, OMIM:var0001 - rs74315490 Germline - - - - - Johan den Dunnen
+/. 6 c.493G>C r.(?) p.(Gly165Arg) - pathogenic g.25603036G>C g.25207069G>C - - CRYBB3_000001 not in 250 control chromosomes PubMed: Riazuddin 2005, OMIM:var0001 - rs74315490 Germline - - - - - Johan den Dunnen
+/. - c.493G>C r.(?) p.(Gly165Arg) - pathogenic (recessive) g.25603036G>C g.25207069G>C - - CRYBB3_000001 - PubMed: Ma 2016 - - Germline - - - - - Johan den Dunnen
?/. - c.503G>A r.(?) p.(Gly168Glu) - VUS g.25603046G>A - CRYBB3(NM_004076.5):c.503G>A (p.G168E) - CRYBB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.506G>T r.(?) p.(Arg169Leu) - VUS g.25603049G>T g.25207082G>T CRYBB3(NM_004076.4):c.506G>T (p.R169L) - CRYBB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.523C>T r.(?) p.(Arg175Trp) - VUS g.25603066C>T - CRYBB3(NM_004076.5):c.523C>T (p.(Arg175Trp)) - CRYBB3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.531G>T r.(?) p.(Glu177Asp) - VUS g.25603074G>T g.25207107G>T - - CRYBB3_000029 - PubMed: Fernandez-Alcalde 2021 VCV000900831.1 - Germline - - - - - Johan den Dunnen
?/. - c.535C>T r.(?) p.(Arg179Cys) - VUS g.25603078C>T g.25207111C>T CRYBB3(NM_004076.4):c.535C>T (p.R179C) - CRYBB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.536G>A r.(?) p.(Arg179His) - VUS g.25603079G>A g.25207112G>A CRYBB3(NM_004076.4):c.536G>A (p.R179H) - CRYBB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.547G>T r.(?) p.(Glu183Ter) - pathogenic g.25603090G>T g.25207123G>T CRYBB3(NM_004076.4):c.547G>T (p.E183*) - CRYBB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.567G>A r.(?) p.(Pro189=) - likely benign g.25603110G>A g.25207143G>A CRYBB3(NM_004076.4):c.567G>A (p.P189=) - CRYBB3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.581T>A r.(?) p.(Val194Glu) - pathogenic (dominant) g.25603124T>A g.25207157T>A - - CRYBB3_000030 - PubMed: Reis 2013 - - Germline yes - - - - Johan den Dunnen
?/. - c.584G>A r.(?) p.(Arg195His) - VUS g.25603127G>A - CRYBB3(NM_004076.4):c.584G>A (p.R195H), CRYBB3(NM_004076.5):c.584G>A (p.(Arg195His)) - CRYBB3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.584G>A r.(?) p.(Arg195His) - VUS g.25603127G>A - CRYBB3(NM_004076.4):c.584G>A (p.R195H), CRYBB3(NM_004076.5):c.584G>A (p.(Arg195His)) - CRYBB3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.593G>A r.(?) p.(Arg198His) - likely pathogenic g.25603136G>A g.25207169G>A CRYBB3(NM_004076.3):c.593G>A(p.R198H) - CRYBB3_000026 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 176 - - - LOVD
?/. - c.606G>A r.(?) p.(Trp202*) - VUS g.25603149G>A - CRYBB3(NM_004076.5):c.606G>A (p.(Trp202Ter)) - CRYBB3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.634T>C r.(?) p.(Ter212ArgextTer40) - likely pathogenic (dominant) g.25603177T>C g.25207210T>C - - CRYBB3_000031 - PubMed: Ma 2016 - - Germline - - - - - Johan den Dunnen
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