Full data view for gene CRYBA4

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.

49 entries on 1 page. Showing entries 1 - 49.
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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     
-?/. - c.26C>T r.(?) p.(Ala9Val) Unknown - likely benign g.27018586C>T g.26622622C>T c.26C>T, p.A9V - CRYBA4_000029 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood eye disease enrichment panel, see paper CCTRCT 6_III-2 PubMed: Wang 2019 Family 6, individual III-2 F - China - - - - - 1 LOVD
+/. - c.26C>T r.(?) p.(Ala9Val) Maternal (confirmed) - pathogenic (dominant) g.27018586C>T g.26622622C>T - - CRYBA4_000029 - PubMed: Zhai 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1 PubMed: Zhai 2017 3-generation family, 4 affected (F, 3M) M - China - - - - - 4 Johan den Dunnen
./. - c.40-1G>C r.spl? p.? Both (homozygous) - pathogenic g.27019197G>C g.26623233G>C - - CRYBA4_000012 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.40-1G>C r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.40-1G>C r.spl? p.? Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
-?/. - c.60C>T r.(?) p.(Asp20=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.77G>A r.(?) p.(Arg26Gln) Unknown - VUS g.27019235G>A g.26623271G>A - - CRYBA4_000009 - - - rs12053788 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
-/. 3 c.106G>A r.(?) p.(Val36Met) Unknown - benign g.27019264G>A g.26623300G>A 142G>A - CRYBA4_000003 1/32 patients PubMed: Billingsley 2006 - rs35520672 Germline - 1/64 NlaIII - - DNA SEQ - - CTRCT - - - - - - - - - - - 1 Johan den Dunnen
-/. 3 c.106G>A r.(?) p.(Val36Met) Unknown - benign g.27019264G>A g.26623300G>A 142G>A - CRYBA4_000003 4/160 controls PubMed: Billingsley 2006 - rs35520672 Germline - 4/320 NlaIII - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 4 Johan den Dunnen
-/. - c.106G>A r.(?) p.(Val36Met) Parent #1 - 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 - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
+/. - c.131T>A r.(?) p.(Val44Glu) Unknown - pathogenic g.27019289T>A g.26623325T>A - - CRYBA4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.136_156del r.(?) p.(Ser46_Gly52del) Parent #1 - likely pathogenic g.27019294_27019314del g.26623330_26623350del - - CRYBA4_000026 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/181 individuals - - - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
-/. 3i c.159-87C>T r.(=) p.(=) Unknown - benign g.27021358C>T g.26625394C>T IVS3-87C>T - CRYBA4_000004 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 - - - DNA SEQ - - CTRCT - - - - - - - - - - - 2 Johan den Dunnen
-/. 3i c.159-87C>T r.(=) p.(=) Unknown - benign g.27021358C>T g.26625394C>T IVS3-87C>T - CRYBA4_000004 11/56 controls PubMed: Billingsley 2006 - - Germline - 11/112 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 11 Johan den Dunnen
-/. 3i c.159-36C>T r.(=) p.(=) Unknown - benign g.27021409C>T g.26625445C>T IVS3-36C>T - CRYBA4_000005 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 FokI - - DNA SEQ - - CTRCT - - - - - - - - - - - 2 Johan den Dunnen
-/. 3i c.159-36C>T r.(=) p.(=) Unknown - benign g.27021409C>T g.26625445C>T IVS3-36C>T - CRYBA4_000005 18/118 controls PubMed: Billingsley 2006 - - Germline - 18/236 FokI - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 18 Johan den Dunnen
-/. - c.159-20A>G r.(=) p.(=) Unknown - benign g.27021425A>G g.26625461A>G CRYBA4(NM_001886.3):c.159-20A>G - CRYBA4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.169T>C r.(?) p.(Phe57Leu) Unknown - likely pathogenic g.27021455T>C g.26625491T>C c.169T>C, p.F57L - CRYBA4_000030 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood eye disease enrichment panel, see paper CCTRCT 4_III-4 PubMed: Wang 2019 Family 4, individual III-4 F - China - - - - - 1 LOVD
+?/. - c.169T>C r.(?) p.(Phe57Leu) Unknown - likely pathogenic g.27021455T>C g.26625491T>C c.169T>C, p.F57L - CRYBA4_000030 - PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood eye disease enrichment panel, see paper CCTRCT 4_II-3 PubMed: Wang 2019 Family 4, individual II-3 M - China - - - - - 1 LOVD
-/. - c.171T>C r.(?) p.(Phe57=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171T>C r.(?) p.(Phe57=) Both (homozygous) - likely benign g.27021457T>C g.26625493T>C - - CRYBA4_000015 - PubMed: Li 2019 - rs5761637 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam1PatII1 PubMed: Li 2019 2-generation family, affected mother/son M - China - - - - - 2 Johan den Dunnen
-?/. - c.171T>C r.(?) p.(Phe57=) Both (homozygous) - likely benign g.27021457T>C g.26625493T>C - - CRYBA4_000015 - PubMed: Li 2019 - rs5761637 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - 3 Johan den Dunnen
-?/. - c.171T>C r.(?) p.(Phe57=) Both (homozygous) - likely benign g.27021457T>C g.26625493T>C - - CRYBA4_000015 - PubMed: Li 2019 - rs5761637 Germline - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - 4 Johan den Dunnen
+/. 4 c.190G>T r.(?) p.(Gly64Trp) Parent #1 - pathogenic g.27021476G>T g.26625512G>T c.225G>T - CRYBA4_000008 not in 200 control chromosomes PubMed: Zhou 2010 - - Germline - - - - - DNA SEQ - - CTRCT - - 3-generation family, 2 affecteds (father and son) - - China - - - - - 2 Johan den Dunnen
+/. 4 c.206T>C r.(?) p.(Leu69Pro) Parent #1 - pathogenic g.27021492T>C g.26625528T>C 242T>C - CRYBA4_000001 not in 368 control chromosomes PubMed: Billingsley 2006 - - Germline - - MspI - - DNA SEQ - - CTRCT - PubMed: Billingsley 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.206T>C r.(?) p.(Leu69Pro) Unknown - pathogenic (dominant) g.27021492T>C g.26625528T>C - - CRYBA4_000001 - PubMed: Fernandez-Alcalde 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam02 PubMed: Fernandez-Alcalde 2021 - - - Spain - - - - - 1 Johan den Dunnen
?/. - c.206T>C r.(?) p.(Leu69Pro) Unknown - VUS g.27021492T>C - - - CRYBA4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.211C>T r.(?) p.(Arg71*) Unknown - likely pathogenic g.27021497C>T g.26625533C>T c.211C>T, p.(Arg71*) - CRYBA4_000031 heterozygous PubMed: Wang 2019 - - Germline yes - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 12646 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
?/. - c.217G>A r.(?) p.(Glu73Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.239G>C r.(?) p.(Trp80Ser) Unknown - likely pathogenic g.27021525G>C - CRYBA4(NM_001886.3):c.239G>C (p.W80S) - CRYBA4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.251C>T r.(?) p.(Thr84Met) Unknown - VUS g.27021537C>T g.26625573C>T - - CRYBA4_000010 - - - rs4277 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
-?/. - c.261C>T r.(?) p.(Pro87=) Unknown - likely benign g.27021547C>T - CRYBA4(NM_001886.2):c.261C>T (p.P87=) - CRYBA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.281T>C r.(?) p.(Phe94Ser) Parent #1 - 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 - - DNA SEQ - - CTRCT - PubMed: Billingsley 2006 4-generation family, 21 affected Fs, 1 male - - India - - - - - 21 Johan den Dunnen
-/. 4i c.300+3A>G r.(=) p.(=) Unknown - benign g.27021589A>G g.26625625A>G IVS4+3A>G - CRYBA4_000006 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 - - - DNA SEQ - - CTRCT - - - - - - - - - - - 2 Johan den Dunnen
-/. 4i c.300+3A>G r.(=) p.(=) Unknown - benign g.27021589A>G g.26625625A>G IVS4+3A>G - CRYBA4_000006 20/90 controls PubMed: Billingsley 2006 - - Germline - 20/180 - - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 20 Johan den Dunnen
-?/. - c.330C>T r.(?) p.(Phe110=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342C>A r.(?) p.(Asn114Lys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.345C>T r.(?) p.(Phe115=) Unknown - likely benign g.27024296C>T - CRYBA4(NM_001886.2):c.345C>T (p.F115=) - CRYBA4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.383C>T r.(?) p.(Ser128Phe) Unknown - likely pathogenic g.27024334C>T g.26628370C>T - - CRYBA4_000027 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G644 PubMed: Huang 2015 family F - China - - - - - 1 LOVD
?/. - c.408C>T r.(?) p.(Gly136=) Unknown - VUS g.27024359C>T - CRYBA4(NM_001886.3):c.408C>T (p.G136=) - CRYBA4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.413A>G r.(?) p.(Glu138Gly) Unknown - likely pathogenic g.27024364A>G g.26628400A>G - - CRYBA4_000028 - PubMed: Huang 2015 - - Germline - - - - - DNA SEQ-NG - gene panel glaucoma G603 PubMed: Huang 2015 family M - China - - - - - 1 LOVD
?/. 5 c.437C>G r.(?) p.(Ser146Cys) Unknown - VUS g.27024388C>G g.26628424C>G - - CRYBA4_000011 - - - rs28412604 Germline - - - - - DNA SEQ leukocytes screen APC gene (index patient) FAP1 - - - M - Germany - - - no (pedigree) - 1 Stefan Aretz
+/. - c.440G>T r.(?) p.(Gly147Val) Both (homozygous) - pathogenic (recessive) g.27024391G>T g.26628427G>T - - CRYBA4_000022 - PubMed: Chen 2017 - - Germline yes - - - - DNA SEQ - - CTRCT Fam60038 PubMed: Chen 2017 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M - - - - - - - 3 Johan den Dunnen
+/. - c.443+1G>A r.spl? p.? Unknown - pathogenic g.27024395G>A g.26628431G>A - - CRYBA4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.444-18G>A r.(=) p.(=) Unknown - benign g.27026286G>A g.26630322G>A IVS5-18G>A - CRYBA4_000007 2/32 patients PubMed: Billingsley 2006 - - Germline - 2/64 AccI - - DNA SEQ - - CTRCT - - - - - - - - - - - 2 Johan den Dunnen
-/. 5i c.444-18G>A r.(=) p.(=) Unknown - benign g.27026286G>A g.26630322G>A IVS5-18G>A - CRYBA4_000007 9/119 controls PubMed: Billingsley 2006 - - Germline - 9/238 AccI - - DNA SEQ - - Healthy/Control - - - - - - - - - - - 9 Johan den Dunnen
?/. - c.464C>T r.(?) p.(Pro155Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.464C>T r.(?) p.(Pro155Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465G>A r.(?) p.(Pro155=) Unknown - likely benign g.27026325G>A - CRYBA4(NM_001886.2):c.465G>A (p.P155=) - CRYBA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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