All variants in the CRYAB gene

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.

132 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
?/. _1 c.-652A>G r.(?) p.(=) - VUS g.111783100T>C g.111912376T>C - - CRYAB_000012 - PubMed: Hahner 2000 - rs22283872 Germline - 0.65 - 0 - Johan den Dunnen
+?/. _1 c.-652A>G r.(?) p.(=) - 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 - Johan den Dunnen
?/. _1 c.-650C>G r.(?) p.(=) - VUS g.111783098G>C g.111912374G>C - - CRYAB_000011 - PubMed: Hahner 2000 - rs2234702 Germline - 0.05 - 0 - Johan den Dunnen
?/. _1 c.-650C>G r.(?) p.(=) - VUS g.111783098G>C g.111912374G>C - - CRYAB_000011 LD with c.-249C>G PubMed: Van Veen 2003 - rs2234702 Germline - - - 0 - Johan den Dunnen
+?/. _1 c.-650C>G r.(?) p.(=) - 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 - Johan den Dunnen
?/. _1 c.-249C>G r.(?) p.(=) - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 - PubMed: Hahner 2000 - rs14133 Germline - 0.74 - 0 - Johan den Dunnen
?/. _1 c.-249C>G r.(?) p.(=) - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 LD with c.-652A PubMed: Van Veen 2003 - rs14133 Germline - - - 0 - Johan den Dunnen
?/. _1 c.-249C>G r.(?) p.(=) - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 LD with c.-650C>G PubMed: Van Veen 2003 - rs14133 Germline - - - 0 - Johan den Dunnen
-?/. - c.-1243A>G r.(=) p.(=) - likely benign g.111783691T>C - HSPB2:c.94+44T>C - CRYAB_000060 - PubMed: Maranhao 2015 - - Germline - 7/25 families - 0 - LOVD
-?/. - c.-1243A>G r.(=) p.(=) - likely benign g.111783691T>C - CRYAB:c.-290-u953A>G - CRYAB_000060 - PubMed: Maranhao 2015 - - Germline - 7/25 families - 0 - LOVD
?/. - c.-21C>T r.(?) p.(=) - VUS g.111782469G>A g.111911745G>A CRYAB(NM_001885.3):c.-21C>T - CRYAB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.7A>G r.(?) p.(Ile3Val) - 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 - VKGL-NL_Rotterdam
-?/. - c.18C>A r.(?) p.(His6Gln) - likely benign g.111782431G>T - CRYAB(NM_001885.2):c.18C>A (p.H6Q) - CRYAB_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.19C>T r.(?) p.(His7Tyr) - 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 - VKGL-NL_Rotterdam
?/. - c.19C>T r.(?) p.(His7Tyr) - VUS g.111782430G>A - CRYAB(NM_001885.2):c.19C>T (p.H7Y) - CRYAB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.19C>T r.(?) p.(His7Tyr) - VUS g.111782430G>A - CRYAB(NM_001885.2):c.19C>T (p.H7Y) - CRYAB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.21C>G r.(?) p.(His7Gln) - VUS g.111782428G>C g.111911704G>C - - CRYAB_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.34C>T r.(?) p.(Arg12Cys) - likely pathogenic g.111782415G>A g.111911691G>A - - CRYAB_000022 - PubMed: Jiaox 2015, Journal: Jiaox 2015 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.34C>T r.(?) p.(Arg12Cys) - likely pathogenic g.111782415G>A g.111911691G>A - - CRYAB_000022 - PubMed: Jiaox 2015, Journal: Jiaox 2015 - - Germline - - - 0 - Jamie Zeegers
+/. 1 c.58C>T r.(?) p.(Pro20Ser) - pathogenic g.111782391G>A g.111911667G>A - - CRYAB_000002 mapped by linkage; not in 400 control chromosomes PubMed: Liu 2006 - rs28929489 Germline - - - 0 - Johan den Dunnen
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - 0 - Jamie Zeegers
-/. - c.60C>T r.(?) p.(Pro20=) - 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 - VKGL-NL_AMC
-?/. - c.60C>T r.(?) p.(Pro20=) - 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 - VKGL-NL_Groningen
-/. - c.60C>T r.(?) p.(Pro20=) - 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 - VKGL-NL_Utrecht
-/. - c.60C>T r.(?) p.(Pro20=) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.65G>A r.(?) p.(Arg22His) - 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 - - - - - VKGL-NL_Groningen
-/. - c.84C>T r.(?) p.(Phe28=) - 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 - VKGL-NL_AMC
?/. - c.104C>T r.(?) p.(Ser35Phe) - VUS g.111782345G>A g.111911621G>A - - CRYAB_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.116C>T r.(?) p.(Pro39Leu) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.116C>T r.(?) p.(Pro39Leu) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.116C>T r.(?) p.(Pro39Leu) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.119C>T r.(?) p.(Thr40Met) - 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 - - - - - VKGL-NL_Groningen
?/. 1 c.122C>A r.(?) p.(Ser41Tyr) - VUS g.111782327G>T g.111911603G>T - - CRYAB_000001 - PubMed: Hahner 2000 - rs2234703 Germline - 0.02 - 0 - Johan den Dunnen
?/. - c.124A>G r.(?) p.(Thr42Ala) - VUS g.111782325T>C g.111911601T>C - - CRYAB_000058 - PubMed: Walsh 2017 - - Germline - 1/304 cases - 0 - Johan den Dunnen
?/. - c.133A>G r.(?) p.(Ser45Gly) - VUS g.111782316T>C g.111911592T>C - - CRYAB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.148C>T r.(?) p.(Arg50Trp) - 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 - - - - - VKGL-NL_Groningen
-/. - c.152C>T r.(?) p.(Pro51Leu) - 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 - VKGL-NL_AMC
-?/. - c.152C>T r.(?) p.(Pro51Leu) - 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 - VKGL-NL_Groningen
-?/. - c.152C>T r.(?) p.(Pro51Leu) - 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 - VKGL-NL_Utrecht
-?/. - c.152C>T r.(?) p.(Pro51Leu) - 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 - VKGL-NL_Rotterdam
?/. 1 c.152C>T r.(?) p.(Pro51Leu) - VUS g.111782297G>A g.111911573G>A - - CRYAB_000009 - PubMed: Hahner 2000 - rs2234704 Germline - 0.02 - 0 - Johan den Dunnen
-/. - c.152C>T r.(?) p.(Pro51Leu) - 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 - - - - - VKGL-NL_Nijmegen
-/. - c.165G>A r.(?) p.(Leu55=) - 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 - VKGL-NL_AMC
-?/. - c.165G>A r.(?) p.(Leu55=) - 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 - VKGL-NL_Groningen
-/. - c.165G>A r.(?) p.(Leu55=) - 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 - VKGL-NL_Utrecht
-/. - c.165G>A r.(?) p.(Leu55=) - 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 - VKGL-NL_Rotterdam
-/. - c.165G>A r.(?) p.(Leu55=) - 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 - - - - - VKGL-NL_Nijmegen
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - Jamie Zeegers
+?/. 1 c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 - PubMed: Safieh 2009 - - Germline - - - 0 - Jamie Zeegers
+?/. - c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
?/. - c.167G>C r.(?) p.(Arg56Pro) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.167G>C r.(?) p.(Arg56Pro) - 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 - - - - - VKGL-NL_Nijmegen
?/. - c.193C>A r.(?) p.(Leu65Ile) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.201+17C>G r.(=) p.(=) - 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 - VKGL-NL_AMC
?/. - c.201+17C>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.201+17C>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
?/. - c.266T>A r.(?) p.(Leu89His) - VUS g.111781109A>T - CRYAB(NM_001885.2):c.266T>A (p.L89H) - CRYAB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.266T>A r.(?) p.(Leu89His) - VUS g.111781109A>T - CRYAB(NM_001885.2):c.266T>A (p.L89H) - CRYAB_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.277G>T r.(?) p.(Val93Leu) - 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 - - - - - VKGL-NL_AMC
-?/. - c.277G>T r.(?) p.(Val93Leu) - 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 - - - - - VKGL-NL_Rotterdam
?/. - c.277G>T r.(?) p.(Val93Leu) - 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 - - - - - VKGL-NL_Groningen
-?/. - c.277G>T r.(?) p.(Val93Leu) - 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 - - - - - VKGL-NL_Utrecht
?/. - c.277G>T r.(?) p.(Val93Leu) - 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 - - - - - VKGL-NL_Nijmegen
+?/. - c.295G>T r.(?) p.(Glu99Ter) ACMG likely pathogenic g.111781080C>A g.111910356C>A CRYAB c.295G>T p.(Glu99Ter) het - CRYAB_000062 heterozygous PubMed: Lenassi 2020 - - Germline ? - - 0 - LOVD
+?/. - c.324+1G>T r.spl? p.? - 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 - VKGL-NL_Rotterdam
-/. - c.324+4T>G r.spl? p.? - 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 - VKGL-NL_AMC
-/. - c.324+4T>G r.spl? p.? - 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 - VKGL-NL_Groningen
-/. - c.324+4T>G r.spl? p.? - 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 - VKGL-NL_Utrecht
-/. - c.324+4T>G r.spl? p.? - 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 - VKGL-NL_Rotterdam
-/. 2i c.324+4T>G r.spl? p.(?) - benign g.111781047A>C g.111910323A>C - - CRYAB_000015 detected in many patients PubMed: Inagaki 2006 - rs11603779 Germline - - - 0 - Johan den Dunnen
-?/. - c.324+40G>A r.(=) p.(=) - likely benign g.111781011C>T g.111910287C>T - - CRYAB_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2i c.324+214C>T r.(?) p.(=) - VUS g.111780837G>A g.111910113G>A - - CRYAB_000016 - - - rs2070894 Germline - 0.16-0.36 - 0 - Johan den Dunnen
?/. 2i c.325-170T>C r.(?) p.(=) - VUS g.111779861A>G g.111909137A>G - - CRYAB_000014 - - - rs41302377 Germline - 0.03 - 0 - Johan den Dunnen
?/. 2i c.325-137G>A r.(?) p.(=) - VUS g.111779828C>T g.111909104C>T - - CRYAB_000013 - - - rs11214039 Germline - 0.00-0.08 - 0 - Johan den Dunnen
-?/. - c.325-18C>T r.(=) p.(=) - 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 - VKGL-NL_Rotterdam
+?/. - c.325G>A r.(?) p.(Asp109Asn) - 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 - VKGL-NL_Utrecht
?/. - c.325G>C r.(?) p.(Asp109His) - VUS g.111779691C>G g.111908967C>G - - CRYAB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 4 c.325G>C r.(?) p.(Asp109His) - pathogenic (dominant) g.111779691C>G g.111908967C>G - - CRYAB_000046 - PubMed: Evilä 2016 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.326A>G r.(?) p.(Asp109Gly) - likely pathogenic g.111779690T>C g.111908966T>C - - CRYAB_000024 - - - - Germline yes 2 - 0 - Andreas Brodehl
+/. 3 c.358A>G r.358a>g p.Arg120Gly - 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 - Johan den Dunnen
+/. 3 c.358A>G r.358a>g p.Arg120Gly - 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 - Johan den Dunnen
+/. 3 c.358A>G r.358a>g p.Arg120Gly - 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 - Johan den Dunnen
+/. 3 c.358A>G r.358a>g p.Arg120Gly - 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 - Johan den Dunnen
+/. 3 c.358A>G r.358a>g p.Arg120Gly - NA g.111779658T>C g.111908934T>C - - CRYAB_000003 expression cloning rat cardiomyocytes shows cytoplasmic aggregates PubMed: Inagaki 2006 - - In vitro (cloned) - - - 0 - Johan den Dunnen
+/. - c.358A>G r.(?) p.(Arg120Gly) - pathogenic g.111779658T>C g.111908934T>C - - CRYAB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.358A>G r.(?) p.(Arg120Gly) - likely pathogenic g.111779658T>C g.111908934T>C CRYAB c.358A>G, p.(Arg474Trp) - CRYAB_000003 heterozygous, present in 2 affected relatives PubMed: Bell 2021 - - Germline yes - - 0 - LOVD
+?/. - c.358A>G r.(?) p.(Arg120Gly) - likely pathogenic g.111779658T>C g.111908934T>C CRYAB c.358A>G, p.(Arg474Trp) - CRYAB_000003 heterozygous, present in 2 affected relatives PubMed: Bell 2021 - - Germline yes - - 0 - LOVD
+?/. - c.358A>G r.(?) p.(Arg120Gly) - likely pathogenic g.111779658T>C g.111908934T>C CRYAB c.358A>G, p.(Arg474Trp) - CRYAB_000003 heterozygous, present in 2 affected relatives PubMed: Bell 2021 - - Germline yes - - 0 - LOVD
?/. - c.367C>T r.(?) p.(Arg123Trp) - 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 - VKGL-NL_AMC
?/. - c.367C>T r.(?) p.(Arg123Trp) - 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 - VKGL-NL_Groningen
-?/. - c.367C>T r.(?) p.(Arg123Trp) - 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 - VKGL-NL_Utrecht
?/. - c.367C>T r.(?) p.(Arg123Trp) - 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 - VKGL-NL_Nijmegen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »