Unique 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.

58 entries on 1 page. Showing entries 1 - 58.
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Effect     

Reported     

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     
+?/., ?/. 2 _1 c.-652A>G r.(?) p.(=) - likely pathogenic, VUS g.111783100T>C g.111912376T>C - - CRYAB_000012 reduced in cases OR 0.45 (99% CI 0.21-0.97) PubMed: Hahner 2000, PubMed: Van Veen 2003 - rs22283872, rs762550 Germline - 0.65 - - - Johan den Dunnen
+?/., ?/. 3 _1 c.-650C>G r.(?) p.(=) - likely pathogenic, VUS g.111783098G>C g.111912374G>C - - CRYAB_000011 LD with c.-249C>G, reduced in cases OR 0.45 (99% CI 0.21-0.97) PubMed: Hahner 2000, PubMed: Van Veen 2003 - rs2234702 Germline - 0.05 - - - Johan den Dunnen
?/. 3 _1 c.-249C>G r.(?) p.(=) - VUS g.111782697G>C g.111911973G>C - - CRYAB_000010 LD with c.-650C>G, LD with c.-652A PubMed: Hahner 2000, PubMed: Van Veen 2003 - rs14133 Germline - 0.74 - - - Johan den Dunnen
-?/. 2 - c.-1243A>G r.(=) p.(=) - likely benign g.111783691T>C - CRYAB:c.-290-u953A>G, HSPB2:c.94+44T>C - CRYAB_000060 - PubMed: Maranhao 2015 - - Germline - 7/25 families - - - LOVD
?/. 1 - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - 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
-?/., ?/. 3 - c.19C>T r.(?) p.(His7Tyr) - likely benign, VUS g.111782430G>A g.111911706G>A CRYAB(NM_001885.2):c.19C>T (p.H7Y) - CRYAB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - 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
+?/. 2 1 c.34C>T r.(?) p.(Arg12Cys) - likely pathogenic g.111782415G>A g.111911691G>A - - CRYAB_000022 - PubMed: Jiaox 2015, Journal: Jiaox 2015 - - Germline - - - - - Jamie Zeegers
+/. 1 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 - - - - - Johan den Dunnen
+?/. 6 1 c.59C>G r.(?) p.(Pro20Arg) - likely pathogenic g.111782390G>C g.111911666G>C - - CRYAB_000021 - PubMed: Xia 2014, Journal: Xia 2016 - - Germline - - - - - Jamie Zeegers
-/., -?/. 4 - c.60C>T r.(?) p.(Pro20=) - benign, 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - 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
-/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
-?/., ?/. 3 - c.116C>T r.(?) p.(Pro39Leu) - likely benign, 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, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - 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 1 c.122C>A r.(?) p.(Ser41Tyr) - VUS g.111782327G>T g.111911603G>T - - CRYAB_000001 - PubMed: Hahner 2000 - rs2234703 Germline - 0.02 - - - Johan den Dunnen
?/. 1 - c.124A>G r.(?) p.(Thr42Ala) - VUS g.111782325T>C g.111911601T>C - - CRYAB_000058 - PubMed: Walsh 2017 - - Germline - 1/304 cases - - - Johan den Dunnen
?/. 1 - c.133A>G r.(?) p.(Ser45Gly) - VUS g.111782316T>C g.111911592T>C - - CRYAB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - 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
-/., -?/., ?/. 6 1 c.152C>T r.(?) p.(Pro51Leu) - benign, likely benign, VUS 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 PubMed: Hahner 2000 - rs2234704 CLASSIFICATION record, Germline - 0.02 - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 5 - c.165G>A r.(?) p.(Leu55=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 6 1 c.166C>T r.(?) p.(Arg56Trp) - likely pathogenic g.111782283G>A g.111911559G>A - - CRYAB_000023 combination of variants not reported PubMed: Safieh 2009, PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen, Jamie Zeegers
?/. 2 - 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, VKGL-NL_Nijmegen
?/. 1 - 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
?/. 3 - 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_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 2 - 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, VKGL-NL_Nijmegen
-?/., ?/. 5 - c.277G>T r.(?) p.(Val93Leu) - likely benign, 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_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - 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 ? - - - - LOVD
+?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
-/. 5 2i c.324+4T>G r.spl? p.(?), 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 detected in many patients, VKGL data sharing initiative Nederland PubMed: Inagaki 2006 - rs11603779 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - 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
?/. 1 2i c.324+214C>T r.(?) p.(=) - VUS g.111780837G>A g.111910113G>A - - CRYAB_000016 - - - rs2070894 Germline - 0.16-0.36 - - - Johan den Dunnen
?/. 1 2i c.325-170T>C r.(?) p.(=) - VUS g.111779861A>G g.111909137A>G - - CRYAB_000014 - - - rs41302377 Germline - 0.03 - - - Johan den Dunnen
?/. 1 2i c.325-137G>A r.(?) p.(=) - VUS g.111779828C>T g.111909104C>T - - CRYAB_000013 - - - rs11214039 Germline - 0.00-0.08 - - - Johan den Dunnen
-?/. 1 - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - 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 - - - - - VKGL-NL_Utrecht
+/., ?/. 2 4 c.325G>C r.(?) p.(Asp109His) - pathogenic (dominant), VUS g.111779691C>G g.111908967C>G - - CRYAB_000046 VKGL data sharing initiative Nederland PubMed: Evilä 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 1 3 c.326A>G r.(?) p.(Asp109Gly) - likely pathogenic g.111779690T>C g.111908966T>C - - CRYAB_000024 - - - - Germline yes 2 - - - Andreas Brodehl
+/. 6 3 c.358A>G r.(?), r.358a>g p.(Arg120Gly), p.Arg120Gly - NA, pathogenic g.111779658T>C g.111908934T>C 3787A>G - CRYAB_000003 expression cloning rat cardiomyocytes shows cytoplasmic aggregates, 5 more items PubMed: Chavez Zobel 2003, OMIM:var0001, PubMed: Fu 2003, OMIM:var0001, PubMed: Inagaki 2006, 1 more item - - CLASSIFICATION record, Germline, In vitro (cloned) - - BsaII+ - - Johan den Dunnen, VKGL-NL_Nijmegen
-?/., ?/. 5 - c.367C>T r.(?) p.(Arg123Trp) - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.381T>C r.(?) p.(Asp127=) - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 3 c.404C>A r.(?) p.(Ser135*) - likely pathogenic g.111779612G>T g.111908888G>T - - CRYAB_000019 - - - - Germline - - - - - Tom Winder
+/. 2 3 c.418G>A r.(?), r.418g>A p.(Asp140Asn), p.Asp140Asn - NA, pathogenic g.111779598C>T g.111908874C>T - - CRYAB_000004 not in 200 control chromosomes, 1 more item PubMed: Liu 2006 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 3 c.450del r.(?) p.(Lys150Asnfs36*) - pathogenic g.111779568del g.111908844del 450delA - CRYAB_000005 mapped by linkage; not in 200 control chromosomes PubMed: Berry 2001, OMIM:var0002 - - Germline - - - - - Johan den Dunnen
+/. 1 3 c.451C>T r.451c>u p.Gln151* - pathogenic g.111779565G>A g.111908841G>A - - CRYAB_000006 not in 200 control chromosomes PubMed: Selcen 2003, OMIM:var0004 - - Germline - - - - - Johan den Dunnen
+/., -/., -?/., ?/. 7 3 c.460G>A r.(?) p.(Gly154Ser) ACMG benign, likely benign, pathogenic, VUS g.111779556C>T g.111908832C>T CRYAB c.460G>A p.(Gly154Ser) het, 1 more item - CRYAB_000017 heterozygous, inheritance possibly autosomal dominant, not in 200 control chromosomes, 1 more item PubMed: Lenassi 2020, PubMed: Pilotto 2006, PubMed: Reilich 2010 - - CLASSIFICATION record, Germline ? - - - - Johan den Dunnen, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 3 c.464_465del r.464_465del p.Pro155Argfs9* - pathogenic g.111779551_111779552del g.111908827_111908828del 464delCT - CRYAB_000007 not in 200 control chromosomes PubMed: Selcen 2003, OMIM:var0003 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.469C>T r.(?) p.(Arg157Cys) - VUS g.111779547G>A g.111908823G>A CRYAB(NM_001885.2):c.469C>T (p.R157C) - CRYAB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., -?/. 3 3 c.470G>A r.(?), r.470g>a p.(Arg157His), p.Arg157His - NA, pathogenic g.111779546C>T g.111908822C>T - - CRYAB_000008 expression cloning rat cardiomyocytes shows no cytoplasmic aggregates, not in 400 control chromosomes, 1 more item PubMed: Inagaki 2006 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 4 - c.487C>T r.(?) p.(Arg163Cys) - VUS g.111779529G>A g.111908805G>A CRYAB(NM_001885.2):c.487C>T (p.R163C), CRYAB(NM_001885.3):c.487C>T (p.R163C) - CRYAB_000029 VKGL data sharing initiative Nederland, VUS favour pathogenic PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/121 cases - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 2 - c.510C>T r.(?) p.(Thr170=) - benign, likely benign g.111779506G>A g.111908782G>A CRYAB(NM_001885.2):c.510C>T (p.T170=) - CRYAB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 1 3 c.511G>A r.(?) p.(Ala171Thr) - pathogenic g.111779505C>T g.111908781C>T 557G>A - CRYAB_000018 not in 200 control chromosomes PubMed: Devi 2008 - - Germline - - HpyF10VI- - - Johan den Dunnen
-/., -?/. 4 - c.516C>A r.(?) p.(Ala172=) - benign, likely benign g.111779500G>T g.111908776G>T CRYAB(NM_001885.2):c.516C>A (p.A172=), CRYAB(NM_001885.3):c.516C>A (p.A172=) - CRYAB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 - c.527A>G r.(?) p.(Ter176TrpextTer19) - pathogenic g.111779489T>C g.111908765T>C CRYAB(NM_001885.3):c.527A>G (p.*176Wext*19) - CRYAB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.*6C>T r.(=) p.(=) - benign g.111779482G>A g.111908758G>A CRYAB(NM_001885.2):c.*6C>T - CRYAB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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