All variants in the CRYBA4 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001886.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.26C>T r.(?) p.(Ala9Val) - likely benign g.27018586C>T g.26622622C>T c.26C>T, p.A9V - CRYBA4_000029 - PubMed: Wang 2019 - - Germline ? - - - - LOVD
./. - c.40-1G>C r.spl? p.? - pathogenic g.27019197G>C g.26623233G>C - - CRYBA4_000012 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-?/. - c.40-1G>C r.spl? p.? - likely benign g.27019197G>C g.26623233G>C CRYBA4(NM_001886.2):c.40-1G>C - CRYBA4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.40-1G>C r.spl? p.? - benign g.27019197G>C g.26623233G>C - - CRYBA4_000012 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142090709 Germline - 12/2794 individuals - - - Mohammed Faruq
-?/. - c.60C>T r.(?) p.(Asp20=) - likely benign g.27019218C>T g.26623254C>T CRYBA4(NM_001886.2):c.60C>T (p.D20=) - CRYBA4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 c.77G>A r.(?) p.(Arg26Gln) - VUS g.27019235G>A g.26623271G>A - - CRYBA4_000009 - - - rs12053788 Germline - - - - - Johan den Dunnen
-/. 3 c.106G>A r.(?) p.(Val36Met) - benign g.27019264G>A g.26623300G>A 142G>A - CRYBA4_000003 1/32 patients PubMed: Billingsley 2006 - rs35520672 Germline - 1/64 NlaIII - - Johan den Dunnen
-/. 3 c.106G>A r.(?) p.(Val36Met) - benign g.27019264G>A g.26623300G>A 142G>A - CRYBA4_000003 4/160 controls PubMed: Billingsley 2006 - rs35520672 Germline - 4/320 NlaIII - - Johan den Dunnen
-/. - c.106G>A r.(?) p.(Val36Met) - benign g.27019264G>A g.26623300G>A - - CRYBA4_000003 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35520672 Germline - 12/2795 individuals - - - Mohammed Faruq
+/. - c.131T>A r.(?) p.(Val44Glu) - pathogenic g.27019289T>A g.26623325T>A - - CRYBA4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.136_156del r.(?) p.(Ser46_Gly52del) - likely pathogenic g.27019294_27019314del g.26623330_26623350del - - CRYBA4_000026 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/181 individuals - - - LOVD
-/. 3i c.159-87C>T r.(=) p.(=) - benign g.27021358C>T g.26625394C>T IVS3-87C>T - CRYBA4_000004 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 - - - Johan den Dunnen
-/. 3i c.159-87C>T r.(=) p.(=) - benign g.27021358C>T g.26625394C>T IVS3-87C>T - CRYBA4_000004 11/56 controls PubMed: Billingsley 2006 - - Germline - 11/112 - - - Johan den Dunnen
-/. 3i c.159-36C>T r.(=) p.(=) - benign g.27021409C>T g.26625445C>T IVS3-36C>T - CRYBA4_000005 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 FokI - - Johan den Dunnen
-/. 3i c.159-36C>T r.(=) p.(=) - benign g.27021409C>T g.26625445C>T IVS3-36C>T - CRYBA4_000005 18/118 controls PubMed: Billingsley 2006 - - Germline - 18/236 FokI - - Johan den Dunnen
-/. - c.159-20A>G r.(=) p.(=) - benign g.27021425A>G g.26625461A>G CRYBA4(NM_001886.3):c.159-20A>G - CRYBA4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.169T>C r.(?) p.(Phe57Leu) - likely pathogenic g.27021455T>C g.26625491T>C c.169T>C, p.F57L - CRYBA4_000030 - PubMed: Wang 2019 - - Germline ? - - - - LOVD
+?/. - c.169T>C r.(?) p.(Phe57Leu) - likely pathogenic g.27021455T>C g.26625491T>C c.169T>C, p.F57L - CRYBA4_000030 - PubMed: Wang 2019 - - Germline ? - - - - LOVD
-/. - c.171T>C r.(?) p.(Phe57=) - benign g.27021457T>C g.26625493T>C CRYBA4(NM_001886.3):c.171T>C (p.F57=) - CRYBA4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 4 c.190G>T r.(?) p.(Gly64Trp) - pathogenic g.27021476G>T g.26625512G>T c.225G>T - CRYBA4_000008 not in 200 control chromosomes PubMed: Zhou 2010 - - Germline - - - - - Johan den Dunnen
+/. 4 c.206T>C r.(?) p.(Leu69Pro) - pathogenic g.27021492T>C g.26625528T>C 242T>C - CRYBA4_000001 not in 368 control chromosomes PubMed: Billingsley 2006 - - Germline - - MspI - - Johan den Dunnen
+?/. - c.211C>T r.(?) p.(Arg71*) - likely pathogenic g.27021497C>T g.26625533C>T c.211C>T, p.(Arg71*) - CRYBA4_000031 heterozygous PubMed: Wang 2019 - - Germline yes - - - - LOVD
?/. - c.217G>A r.(?) p.(Glu73Lys) - VUS g.27021503G>A g.26625539G>A CRYBA4(NM_001886.2):c.217G>A (p.E73K) - CRYBA4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.239G>C r.(?) p.(Trp80Ser) - likely pathogenic g.27021525G>C - CRYBA4(NM_001886.3):c.239G>C (p.W80S) - CRYBA4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 4 c.251C>T r.(?) p.(Thr84Met) - VUS g.27021537C>T g.26625573C>T - - CRYBA4_000010 - - - rs4277 Germline - - - - - Johan den Dunnen
-?/. - c.261C>T r.(?) p.(Pro87=) - likely benign g.27021547C>T - CRYBA4(NM_001886.2):c.261C>T (p.P87=) - CRYBA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 4 c.281T>C r.(?) p.(Phe94Ser) - pathogenic g.27021567T>C g.26625603T>C 317T>C - CRYBA4_000002 mapped by linkage (LOD 3.2); not in 478 control chromosomes PubMed: Billingsley 2006 - - Germline - - NciI - - Johan den Dunnen
-/. 4i c.300+3A>G r.(=) p.(=) - benign g.27021589A>G g.26625625A>G IVS4+3A>G - CRYBA4_000006 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 - - - Johan den Dunnen
-/. 4i c.300+3A>G r.(=) p.(=) - benign g.27021589A>G g.26625625A>G IVS4+3A>G - CRYBA4_000006 20/90 controls PubMed: Billingsley 2006 - - Germline - 20/180 - - - Johan den Dunnen
-?/. - c.330C>T r.(?) p.(Phe110=) - likely benign g.27024281C>T g.26628317C>T CRYBA4(NM_001886.2):c.330C>T (p.F110=) - CRYBA4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.342C>A r.(?) p.(Asn114Lys) - VUS g.27024293C>A g.26628329C>A CRYBA4(NM_001886.2):c.342C>A (p.N114K) - CRYBA4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.345C>T r.(?) p.(Phe115=) - likely benign g.27024296C>T - CRYBA4(NM_001886.2):c.345C>T (p.F115=) - CRYBA4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.383C>T r.(?) p.(Ser128Phe) - likely pathogenic g.27024334C>T g.26628370C>T - - CRYBA4_000027 - PubMed: Huang 2015 - - Germline - - - - - LOVD
?/. - c.408C>T r.(?) p.(Gly136=) - VUS g.27024359C>T - CRYBA4(NM_001886.3):c.408C>T (p.G136=) - CRYBA4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.413A>G r.(?) p.(Glu138Gly) - likely pathogenic g.27024364A>G g.26628400A>G - - CRYBA4_000028 - PubMed: Huang 2015 - - Germline - - - - - LOVD
?/. 5 c.437C>G r.(?) p.(Ser146Cys) - VUS g.27024388C>G g.26628424C>G - - CRYBA4_000011 - - - rs28412604 Germline - - - - - Johan den Dunnen
+/. - c.440G>T r.(?) p.(Gly147Val) - pathogenic (recessive) g.27024391G>T g.26628427G>T - - CRYBA4_000022 - PubMed: Chen 2017 - - Germline yes - - - - Johan den Dunnen
+/. - c.443+1G>A r.spl? p.? - pathogenic g.27024395G>A g.26628431G>A - - CRYBA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 5i c.444-18G>A r.(=) p.(=) - benign g.27026286G>A g.26630322G>A IVS5-18G>A - CRYBA4_000007 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 AccI - - Johan den Dunnen
-/. 5i c.444-18G>A r.(=) p.(=) - benign g.27026286G>A g.26630322G>A IVS5-18G>A - CRYBA4_000007 9/119 controls PubMed: Billingsley 2006 - - Germline - 9/238 AccI - - Johan den Dunnen
?/. - c.464C>T r.(?) p.(Pro155Leu) - VUS g.27026324C>T g.26630360C>T CRYBA4(NM_001886.2):c.464C>T (p.P155L) - CRYBA4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.464C>T r.(?) p.(Pro155Leu) - VUS g.27026324C>T g.26630360C>T CRYBA4(NM_001886.2):c.464C>T (p.P155L) - CRYBA4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.465G>A r.(?) p.(Pro155=) - likely benign g.27026325G>A - CRYBA4(NM_001886.2):c.465G>A (p.P155=) - CRYBA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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