Full data view for gene CRYAB

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001885.1 transcript reference sequence.

129 entries on 2 pages. Showing entries 1 - 100.
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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 c.-652A>G r.(?) p.(=) Unknown - VUS g.111783100T>C g.111912376T>C - - CRYAB_000012 - PubMed: Hahner 2000 - rs22283872 Germline - 0.65 - 0 - DNA SSCA, SEQ - - Healthy/Control - PubMed: Hahner 2000 - - - Germany - - 0 - - 1 Johan den Dunnen
+?/. _1 c.-652A>G r.(?) p.(=) Parent #1 - likely pathogenic g.111783100T>C g.111912376T>C - - CRYAB_000012 reduced in cases OR 0.45 (99% CI 0.21-0.97) PubMed: Van Veen 2003 - rs762550 Germline - - - 0 - DNA SEQ - - ? - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. _1 c.-650C>G r.(?) p.(=) Unknown - VUS g.111783098G>C g.111912374G>C - - CRYAB_000011 - PubMed: Hahner 2000 - rs2234702 Germline - 0.05 - 0 - DNA SSCA, SEQ - - Healthy/Control - PubMed: Hahner 2000 - - - Germany - - 0 - - 1 Johan den Dunnen
?/. _1 c.-650C>G r.(?) p.(=) Parent #1 - VUS g.111783098G>C g.111912374G>C - - CRYAB_000011 LD with c.-249C>G PubMed: Van Veen 2003 - rs2234702 Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+?/. _1 c.-650C>G r.(?) p.(=) Parent #1 - likely pathogenic g.111783098G>C g.111912374G>C - - CRYAB_000011 reduced in cases OR 0.45 (99% CI 0.21-0.97) PubMed: Van Veen 2003 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. _1 c.-249C>G r.(?) p.(=) Unknown - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 - PubMed: Hahner 2000 - rs14133 Germline - 0.74 - 0 - DNA SSCA, SEQ - - Healthy/Control - PubMed: Hahner 2000 - - - Germany - - 0 - - 1 Johan den Dunnen
?/. _1 c.-249C>G r.(?) p.(=) Parent #1 - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 LD with c.-652A PubMed: Van Veen 2003 - rs14133 Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - 1 Johan den Dunnen
?/. _1 c.-249C>G r.(?) p.(=) Parent #1 - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 LD with c.-650C>G PubMed: Van Veen 2003 - rs14133 Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Van Veen 2003 - - - Netherlands - - 0 - - 1 Johan den Dunnen
-?/. - c.-1243A>G r.(=) p.(=) Unknown - likely benign g.111783691T>C - HSPB2:c.94+44T>C - CRYAB_000060 - PubMed: Maranhao 2015 - - Germline - 7/25 families - 0 - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - 0 - - 7 LOVD
-?/. - c.-1243A>G r.(=) p.(=) Unknown - likely benign g.111783691T>C - CRYAB:c.-290-u953A>G - CRYAB_000060 - PubMed: Maranhao 2015 - - Germline - 7/25 families - 0 - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - 0 - - 7 LOVD
?/. - c.-21C>T r.(?) p.(=) Unknown - VUS g.111782469G>A g.111911745G>A CRYAB(NM_001885.3):c.-21C>T - CRYAB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.7A>G r.(?) p.(Ile3Val) Unknown - likely benign g.111782442T>C g.111911718T>C CRYAB(NM_001885.2):c.7A>G (p.I3V) - CRYAB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.18C>A r.(?) p.(His6Gln) Unknown - likely benign g.111782431G>T - CRYAB(NM_001885.2):c.18C>A (p.H6Q) - CRYAB_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19C>T r.(?) p.(His7Tyr) Unknown - likely benign g.111782430G>A g.111911706G>A CRYAB(NM_001885.2):c.19C>T (p.H7Y) - CRYAB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.19C>T r.(?) p.(His7Tyr) Unknown - VUS g.111782430G>A - CRYAB(NM_001885.2):c.19C>T (p.H7Y) - CRYAB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19C>T r.(?) p.(His7Tyr) Unknown - VUS g.111782430G>A - CRYAB(NM_001885.2):c.19C>T (p.H7Y) - CRYAB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.21C>G r.(?) p.(His7Gln) Unknown - VUS g.111782428G>C g.111911704G>C - - CRYAB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.34C>T r.(?) p.(Arg12Cys) Both (homozygous) - likely pathogenic g.111782415G>A g.111911691G>A - - CRYAB_000022 - PubMed: Jiaox 2015, Journal: Jiaox 2015 - - Germline - - - 0 - DNA PCRq, SEQ-NG - - CCTRCT - PubMed: Jiaox 2015, Journal: Jiaox 2015 Family, 14-affected family members - yes Pakistan Pakistani - 0 - - 14 Jamie Zeegers
+?/. 1 c.34C>T r.(?) p.(Arg12Cys) Both (homozygous) - likely pathogenic g.111782415G>A g.111911691G>A - - CRYAB_000022 - PubMed: Jiaox 2015, Journal: Jiaox 2015 - - Germline - - - 0 - DNA PCRq, SEQ-NG - - CCTRCT - PubMed: Jiaox 2015, Journal: Jiaox 2015 Family, 6-affected family members - yes Pakistan Pakistani - 0 - - 6 Jamie Zeegers
+/. 1 c.58C>T r.(?) p.(Pro20Ser) Parent #1 - pathogenic g.111782391G>A g.111911667G>A - - CRYAB_000002 mapped by linkage; not in 400 control chromosomes PubMed: Liu 2006 - rs28929489 Germline - - - 0 - DNA SSCA, SEQ - - CTRCT - PubMed: Liu 2006 4-generation family, 13 affecteds - - China - - 0 - - 14 Johan den Dunnen
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) Parent #1 - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CTRCT-16;CTPP-2, CTRCT-2;CCL - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, II3 F - China Chinese - 0 - - 6 Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) Parent #1 - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CTRCT-16;CTPP-2, CTRCT-2;CCL - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, II4 M - China Chinese >17y 0 - - 1 Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) Parent #1 - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CTRCT-16;CTPP-2, CTRCT-2;CCL - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, III1 M - China Chinese >20y 0 - - 1 Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) Parent #1 - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CTRCT-16;CTPP-2, CTRCT-2;CCL - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, III4 F - China Chinese >19y 0 - - 1 Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) Parent #1 - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CTRCT-16;CTPP-2, CTRCT-2;CCL - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, IV2 M - China Chinese >11y 0 - - 1 Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) Parent #1 - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CTRCT-16;CTPP-2, CTRCT-2;CCL - PubMed: Xia 2014, Journal: Xia 2016 Family, 6-affected family members in a 5-generation Chinese family, IV5 F - China Chinese >08y 0 - - 1 Jamie Zeegers
-/. - c.60C>T r.(?) p.(Pro20=) Unknown - benign g.111782389G>A g.111911665G>A CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=) - CRYAB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.60C>T r.(?) p.(Pro20=) Unknown - likely benign g.111782389G>A g.111911665G>A CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=) - CRYAB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.60C>T r.(?) p.(Pro20=) Unknown - benign g.111782389G>A g.111911665G>A CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=) - CRYAB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.60C>T r.(?) p.(Pro20=) Unknown - benign g.111782389G>A g.111911665G>A CRYAB(NM_001885.2):c.60C>T (p.P20=), CRYAB(NM_001885.3):c.60C>T (p.P20=) - CRYAB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65G>A r.(?) p.(Arg22His) Unknown - VUS g.111782384C>T g.111911660C>T CRYAB(NM_001885.3):c.65G>A (p.R22H) - CRYAB_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84C>T r.(?) p.(Phe28=) Unknown - benign g.111782365G>A g.111911641G>A CRYAB(NM_001885.2):c.84C>T (p.F28=) - CRYAB_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.104C>T r.(?) p.(Ser35Phe) Unknown - VUS g.111782345G>A g.111911621G>A - - CRYAB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - VUS g.111782333G>A g.111911609G>A CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L) - CRYAB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - likely benign g.111782333G>A g.111911609G>A CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L) - CRYAB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116C>T r.(?) p.(Pro39Leu) Unknown - VUS g.111782333G>A g.111911609G>A CRYAB(NM_001885.2):c.116C>T (p.P39L), CRYAB(NM_001885.3):c.116C>T (p.P39L) - CRYAB_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119C>T r.(?) p.(Thr40Met) Unknown - VUS g.111782330G>A g.111911606G>A CRYAB(NM_001885.3):c.119C>T (p.T40M) - CRYAB_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.122C>A r.(?) p.(Ser41Tyr) Unknown - VUS g.111782327G>T g.111911603G>T - - CRYAB_000001 - PubMed: Hahner 2000 - rs2234703 Germline - 0.02 - 0 - DNA SSCA, SEQ - - Healthy/Control - PubMed: Hahner 2000 - - - Germany - - 0 - - 1 Johan den Dunnen
?/. - c.124A>G r.(?) p.(Thr42Ala) Unknown - VUS g.111782325T>C g.111911601T>C - - CRYAB_000058 - PubMed: Walsh 2017 - - Germline - 1/304 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.133A>G r.(?) p.(Ser45Gly) Unknown - VUS g.111782316T>C g.111911592T>C - - CRYAB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.148C>T r.(?) p.(Arg50Trp) Unknown - VUS g.111782301G>A g.111911577G>A CRYAB(NM_001885.3):c.148C>T (p.R50W) - CRYAB_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.152C>T r.(?) p.(Pro51Leu) Unknown - benign g.111782297G>A g.111911573G>A CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L) - CRYAB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.152C>T r.(?) p.(Pro51Leu) Unknown - likely benign g.111782297G>A g.111911573G>A CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L) - CRYAB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.152C>T r.(?) p.(Pro51Leu) Unknown - likely benign g.111782297G>A g.111911573G>A CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L) - CRYAB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.152C>T r.(?) p.(Pro51Leu) Unknown - likely benign g.111782297G>A g.111911573G>A CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L) - CRYAB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.152C>T r.(?) p.(Pro51Leu) Unknown - VUS g.111782297G>A g.111911573G>A - - CRYAB_000009 - PubMed: Hahner 2000 - rs2234704 Germline - 0.02 - 0 - DNA SSCA, SEQ - - Healthy/Control - PubMed: Hahner 2000 - - - Germany - - 0 - - 1 Johan den Dunnen
-/. - c.152C>T r.(?) p.(Pro51Leu) Unknown - benign g.111782297G>A g.111911573G>A CRYAB(NM_001885.2):c.152C>T (p.P51L), CRYAB(NM_001885.3):c.152C>T (p.P51L) - CRYAB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Leu55=) Unknown - benign g.111782284C>T g.111911560C>T CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=) - CRYAB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.165G>A r.(?) p.(Leu55=) Unknown - likely benign g.111782284C>T g.111911560C>T CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=) - CRYAB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Leu55=) Unknown - benign g.111782284C>T g.111911560C>T CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=) - CRYAB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Leu55=) Unknown - benign g.111782284C>T g.111911560C>T CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=) - CRYAB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.165G>A r.(?) p.(Leu55=) Unknown - benign g.111782284C>T g.111911560C>T CRYAB(NM_001885.2):c.165G>A (p.L55=), CRYAB(NM_001885.3):c.165G>A (p.L55=) - CRYAB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) Both (homozygous) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, I-2 F - Saudi Arabia Saudi >35y 0 - Surgery 5 Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) Both (homozygous) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-1 F - Saudi Arabia Saudi >16y 0 - Surgery 1 Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) Both (homozygous) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-2 F - Saudi Arabia Saudi >14y 0 - Surgery 1 Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) Both (homozygous) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-7 M - Saudi Arabia Saudi >01y 0 - - 1 Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) Both (homozygous) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - DNA PCR, SEQ-NG - - CCTRCT - PubMed: Safieh 2009 Family, mother is affected, father is carrier and 4-affected siblings, II-4 F - Saudi Arabia Saudi - 0 - - 1 Jamie Zeegers
+?/. - c.166C>T r.(?) p.(Arg56Trp) Unknown - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. - c.167G>C r.(?) p.(Arg56Pro) Unknown - VUS g.111782282C>G g.111911558C>G CRYAB(NM_001885.3):c.167G>C (p.R56P) - CRYAB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>C r.(?) p.(Arg56Pro) Unknown - VUS g.111782282C>G g.111911558C>G CRYAB(NM_001885.3):c.167G>C (p.R56P) - CRYAB_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.193C>A r.(?) p.(Leu65Ile) Unknown - VUS g.111782256G>T g.111911532G>T CRYAB(NM_001885.3):c.193C>A (p.L65I) - CRYAB_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201+17C>G r.(=) p.(=) Unknown - VUS g.111782231G>C g.111911507G>C CRYAB(NM_001885.2):c.201+17C>G, CRYAB(NM_001885.3):c.201+17C>G - CRYAB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.201+17C>G r.(=) p.(=) Unknown - VUS g.111782231G>C g.111911507G>C CRYAB(NM_001885.2):c.201+17C>G, CRYAB(NM_001885.3):c.201+17C>G - CRYAB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.201+17C>G r.(=) p.(=) Unknown - VUS g.111782231G>C - CRYAB(NM_001885.2):c.201+17C>G, CRYAB(NM_001885.3):c.201+17C>G - CRYAB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266T>A r.(?) p.(Leu89His) Unknown - VUS g.111781109A>T - CRYAB(NM_001885.2):c.266T>A (p.L89H) - CRYAB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.266T>A r.(?) p.(Leu89His) Unknown - VUS g.111781109A>T - CRYAB(NM_001885.2):c.266T>A (p.L89H) - CRYAB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>T r.(?) p.(Val93Leu) Unknown - VUS g.111781098C>A g.111910374C>A CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L) - CRYAB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277G>T r.(?) p.(Val93Leu) Unknown - likely benign g.111781098C>A g.111910374C>A CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L) - CRYAB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>T r.(?) p.(Val93Leu) Unknown - VUS g.111781098C>A g.111910374C>A CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L) - CRYAB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277G>T r.(?) p.(Val93Leu) Unknown - likely benign g.111781098C>A g.111910374C>A CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L) - CRYAB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.277G>T r.(?) p.(Val93Leu) Unknown - VUS g.111781098C>A g.111910374C>A CRYAB(NM_001885.2):c.277G>T (p.V93L), CRYAB(NM_001885.3):c.277G>T (p.V93L) - CRYAB_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.295G>T r.(?) p.(Glu99Ter) Unknown ACMG likely pathogenic g.111781080C>A g.111910356C>A CRYAB c.295G>T p.(Glu99Ter) het - CRYAB_000062 heterozygous PubMed: Lenassi 2020 - - Germline ? - - 0 - DNA SEQ-NG blood 114 genes panel tested retinal disease 15004858 PubMed: Lenassi 2020 retrospective analysis F - (United Kingdom (Great Britain)) - - 0 - - 1 LOVD
+?/. - c.324+1G>T r.spl? p.? Unknown - likely pathogenic g.111781050C>A g.111910326C>A CRYAB(NM_001885.2):c.324+1G>T - CRYAB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.324+4T>G r.spl? p.? Unknown - benign g.111781047A>C g.111910323A>C CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G - CRYAB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.324+4T>G r.spl? p.? Unknown - benign g.111781047A>C g.111910323A>C CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G - CRYAB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.324+4T>G r.spl? p.? Unknown - benign g.111781047A>C g.111910323A>C CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G - CRYAB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.324+4T>G r.spl? p.? Unknown - benign g.111781047A>C g.111910323A>C CRYAB(NM_001885.2):c.324+4T>G, CRYAB(NM_001885.3):c.324+4T>G - CRYAB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.324+4T>G r.spl? p.(?) Unknown - benign g.111781047A>C g.111910323A>C - - CRYAB_000015 detected in many patients PubMed: Inagaki 2006 - rs11603779 Germline - - - 0 - DNA SEQ - - CMD - PubMed: Inagaki 2006 - - - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.324+40G>A r.(=) p.(=) Unknown - likely benign g.111781011C>T g.111910287C>T - - CRYAB_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.324+214C>T r.(?) p.(=) Unknown - VUS g.111780837G>A g.111910113G>A - - CRYAB_000016 - - - rs2070894 Germline - 0.16-0.36 - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.325-170T>C r.(?) p.(=) Unknown - VUS g.111779861A>G g.111909137A>G - - CRYAB_000014 - - - rs41302377 Germline - 0.03 - 0 - - - - - - - - - - - - - - - - - - -
?/. 2i c.325-137G>A r.(?) p.(=) Unknown - VUS g.111779828C>T g.111909104C>T - - CRYAB_000013 - - - rs11214039 Germline - 0.00-0.08 - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.325-18C>T r.(=) p.(=) Unknown - likely benign g.111779709G>A g.111908985G>A CRYAB(NM_001885.2):c.325-18C>T - CRYAB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.325G>A r.(?) p.(Asp109Asn) Unknown - likely pathogenic g.111779691C>T g.111908967C>T CRYAB(NM_001885.3):c.325G>A (p.D109N) - CRYAB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.325G>C r.(?) p.(Asp109His) Unknown - VUS g.111779691C>G g.111908967C>G - - CRYAB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.325G>C r.(?) p.(Asp109His) Unknown - pathogenic (dominant) g.111779691C>G g.111908967C>G - - CRYAB_000046 - PubMed: Evilä 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - MyoCap 180 myopathy gene panel MYOP P2 PubMed: Evilä 2016 - - - Netherlands - - 0 - - 1 Johan den Dunnen
+/. 3 c.326A>G r.(?) p.(Asp109Gly) Unknown - likely pathogenic g.111779690T>C g.111908966T>C - - CRYAB_000024 - - - - Germline yes 2 - 0 - DNA arraySNP - - RCM - - - M no Germany - - 0 - - 1 Andreas Brodehl
+/. 3 c.358A>G r.358a>g p.Arg120Gly Parent #1 - pathogenic g.111779658T>C g.111908934T>C 3787A>G - CRYAB_000003 mapped by linkage; not in 300 control chromosomes; DES normal PubMed: Vicart 1998, OMIM:var0001 - - Germline - - BsaII+ 0 - DNA, RNA RT-PCR, SSCA, SEQ - - ? - PubMed: Fardeau 1978 3-generation family, 11 affecteds - - France - - 0 - - 11 Johan den Dunnen
+/. 3 c.358A>G r.358a>g p.Arg120Gly Unknown - NA g.111779658T>C g.111908934T>C - - CRYAB_000003 expression cloning C2.7 myoblasts/BHK 21 kidney smooth muscle cells;cytoplasmic/perinuclear aggregates cells PubMed: Vicart 1998, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.358A>G r.358a>g p.Arg120Gly Unknown - NA g.111779658T>C g.111908934T>C - - CRYAB_000003 YTH decreased interaction CRYAA, CRTAB, slightly increased with CRYBB2, CRYGC PubMed: Fu 2003, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.358A>G r.358a>g p.Arg120Gly Unknown - NA g.111779658T>C g.111908934T>C - - CRYAB_000003 impaired in vivo function/structure, highly reduced protection capacity against heat shock, abnormal supramolecular organization, accumulation inclusion bodies PubMed: Chavez Zobel 2003, OMIM:var0001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.358A>G r.358a>g p.Arg120Gly Unknown - NA g.111779658T>C g.111908934T>C - - CRYAB_000003 expression cloning rat cardiomyocytes shows cytoplasmic aggregates PubMed: Inagaki 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.358A>G r.(?) p.(Arg120Gly) Unknown - pathogenic g.111779658T>C g.111908934T>C - - CRYAB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - VUS g.111779649G>A g.111908925G>A CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W) - CRYAB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - VUS g.111779649G>A g.111908925G>A CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W) - CRYAB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - likely benign g.111779649G>A g.111908925G>A CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W) - CRYAB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - VUS g.111779649G>A g.111908925G>A CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W) - CRYAB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Arg123Trp) Unknown - VUS g.111779649G>A g.111908925G>A CRYAB(NM_001885.2):c.367C>T (p.R123W), CRYAB(NM_001885.3):c.367C>T (p.R123W) - CRYAB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.381T>C r.(?) p.(Asp127=) Unknown - likely benign g.111779635A>G g.111908911A>G CRYAB(NM_001885.2):c.381T>C (p.D127=) - CRYAB_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.404C>A r.(?) p.(Ser135*) Both (homozygous) - likely pathogenic g.111779612G>T g.111908888G>T - - CRYAB_000019 - - - - Germline - - - 0 - DNA PCR, SEQ - - MFM - - - - - (United States) - - 0 - - 1 Tom Winder
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