All variants in the BAG3 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_004281.3 transcript reference sequence.

378 entries on 4 pages. Showing entries 1 - 100.
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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.-271C>T r.(?) p.(=) - likely benign g.121410917C>T g.119651405C>T - - BAG3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-143_-142insAGT r.(?) p.(=) - likely benign g.121411045_121411046insAGT g.119651533_119651534insAGT - - BAG3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-95G>A r.(?) p.(=) - likely benign g.121411093G>A g.119651581G>A - - BAG3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-86G>A r.(?) p.(=) - likely benign g.121411102G>A g.119651590G>A - - BAG3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-27G>T r.(?) p.(=) - likely benign g.121411161G>T g.119651649G>T - - BAG3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-17G>A r.(?) p.(=) - benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.-17G>A r.(?) p.(=) - likely benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-17G>A r.(?) p.(=) - benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.-17G>A r.(?) p.(=) - benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A, BAG3(NM_004281.4):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.-4C>T r.(?) p.(=) - VUS g.121411184C>T g.119651672C>T BAG3(NM_004281.3):c.-4C>T, BAG3(NM_004281.4):c.-4C>T - BAG3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-4C>T r.(?) p.(=) - likely benign g.121411184C>T - BAG3(NM_004281.3):c.-4C>T, BAG3(NM_004281.4):c.-4C>T - BAG3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.25A>G r.(?) p.(Met9Val) - benign g.121411212A>G g.119651700A>G BAG3(NM_004281.3):c.25A>G (p.M9V), BAG3(NM_004281.4):c.25A>G (p.M9V) - BAG3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.25A>G r.(?) p.(Met9Val) - likely benign g.121411212A>G g.119651700A>G BAG3(NM_004281.3):c.25A>G (p.M9V), BAG3(NM_004281.4):c.25A>G (p.M9V) - BAG3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.25A>G r.(?) p.(Met9Val) - likely benign g.121411212A>G - BAG3(NM_004281.3):c.25A>G (p.M9V), BAG3(NM_004281.4):c.25A>G (p.M9V) - BAG3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.34G>A r.(?) p.(Val12Met) - likely benign g.121411221G>A g.119651709G>A - - BAG3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.52G>A r.(?) p.(Asp18Asn) - VUS g.121411239G>A g.119651727G>A BAG3(NM_004281.3):c.52G>A (p.D18N), BAG3(NM_004281.4):c.52G>A (p.D18N) - BAG3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.52G>A r.(?) p.(Asp18Asn) - likely benign g.121411239G>A - BAG3(NM_004281.3):c.52G>A (p.D18N), BAG3(NM_004281.4):c.52G>A (p.D18N) - BAG3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.67C>T r.(?) p.(Pro23Ser) - VUS g.121411254C>T g.119651742C>T BAG3(NM_004281.4):c.67C>T (p.P23S) - BAG3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.72del r.(?) p.(Gly25AspfsTer186) - pathogenic g.121411259del g.119651747del BAG3(NM_004281.4):c.72delC (p.G25Dfs*186) - BAG3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.72del r.(?) p.(Gly25AspfsTer186) - pathogenic g.121411259del g.119651747del BAG3(NM_004281.4):c.72delC (p.G25Dfs*186) - BAG3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.79G>A r.(?) p.(Glu27Lys) - VUS g.121411266G>A - - - BAG3_000209 - - - - CLASSIFICATION record - - - - - MobiDetails
+?/. - c.89del r.(?) p.(Ile30Thrfs*181) - likely pathogenic g.121411276del - BAG3(NM_004281.3):c.89delT (p.I30Tfs*181) - BAG3_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.96G>T r.(?) p.(Pro32=) - likely benign g.121411283G>T g.119651771G>T BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.96G>T r.(?) p.(Pro32=) - likely benign g.121411283G>T g.119651771G>T BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.96G>T r.(?) p.(Pro32=) - likely benign g.121411283G>T g.119651771G>T BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.96G>T r.(?) p.(Pro32=) - benign g.121411283G>T - BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.96G>T r.(?) p.(Pro32=) - likely benign g.121411283G>T - BAG3(NM_004281.3):c.96G>T (p.P32=), BAG3(NM_004281.4):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.102C>A r.(?) p.(=) - likely benign g.121411289C>A - BAG3(NM_004281.4):c.102C>A (p.T34=) - BAG3_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.111C>G r.(?) p.(Pro37=) - likely benign g.121411298C>G g.119651786C>G - - BAG3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.137C>T r.(?) p.(Thr46Ile) - likely pathogenic g.121411324C>T g.119651812C>T - - BAG3_000194 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.155C>T r.(?) p.(Pro52Leu) - VUS g.121411342C>T - BAG3(NM_004281.4):c.155C>T (p.P52L) - BAG3_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.172G>A r.(?) p.(Gly58Ser) - VUS g.121411359G>A g.119651847G>A - - BAG3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.173G>T r.(?) p.(Gly58Val) - VUS g.121411360G>T - - - BAG3_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.180+1G>A r.spl? p.? - pathogenic g.121411368G>A g.119651856G>A BAG3(NM_004281.3):c.180+1G>A, BAG3(NM_004281.4):c.180+1G>A - BAG3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.180+1G>A r.spl? p.? - pathogenic g.121411368G>A - BAG3(NM_004281.3):c.180+1G>A, BAG3(NM_004281.4):c.180+1G>A - BAG3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.180+3G>A r.spl? p.? - VUS g.121411370G>A g.119651858G>A BAG3(NM_004281.3):c.180+3G>A - BAG3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.181-12T>C r.(=) p.(=) - likely benign g.121429351T>C - - - BAG3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.181-9T>A r.(=) p.(=) - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.181-9T>A r.(=) p.(=) - likely benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.181-9T>A r.(=) p.(=) - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.181-9T>A r.(=) p.(=) - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.181-9T>A r.(=) p.(=) - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A, BAG3(NM_004281.4):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.187C>G r.(?) p.(Pro63Ala) - pathogenic g.121429369C>G g.119669857C>G - - BAG3_000021 variant is pathogenic but not causing disease - - - Germline - - - - - Muhammad Umair
-/. - c.187C>G r.(?) p.(Pro63Ala) - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.187C>G r.(?) p.(Pro63Ala) - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.187C>G r.(?) p.(Pro63Ala) - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.187C>G r.(?) p.(Pro63Ala) - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A), BAG3(NM_004281.4):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.211C>T r.(?) p.(Arg71Trp) - VUS g.121429393C>T g.119669881C>T BAG3(NM_004281.4):c.211C>T (p.R71W) - BAG3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.211C>T r.(?) p.(Arg71Trp) - likely benign g.121429393C>T - BAG3(NM_004281.4):c.211C>T (p.R71W) - BAG3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.212G>A r.(?) p.(Arg71Gln) - likely benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln)) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.212G>A r.(?) p.(Arg71Gln) - likely benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln)) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.212G>A r.(?) p.(Arg71Gln) - benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln)) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 c.212G>A r.(?) p.(Arg71Gln) - VUS g.121429394G>A g.119669882G>A - - BAG3_000003 - - - rs35434411 Germline - - - - - Johan den Dunnen
-/. - c.212G>A r.(?) p.(Arg71Gln) - benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln)) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.212G>A r.(?) p.(Arg71Gln) - likely benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q), BAG3(NM_004281.4):c.212G>A (p.R71Q, p.(Arg71Gln)) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.212G>A r.(?) p.(Arg71Gln) - likely benign g.121429394G>A g.119669882G>A - - BAG3_000003 25 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35434411 Germline - 25/2795 individuals - - - Mohammed Faruq
?/. - c.212G>T r.(?) p.(Arg71Leu) - VUS g.121429394G>T g.119669882G>T BAG3(NM_004281.3):c.212G>T (p.R71L), BAG3(NM_004281.4):c.212G>T (p.R71L) - BAG3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.212G>T r.(?) p.(Arg71Leu) - likely benign g.121429394G>T g.119669882G>T BAG3(NM_004281.3):c.212G>T (p.R71L), BAG3(NM_004281.4):c.212G>T (p.R71L) - BAG3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.212G>T r.(?) p.(Arg71Leu) - likely benign g.121429394G>T - BAG3(NM_004281.3):c.212G>T (p.R71L), BAG3(NM_004281.4):c.212G>T (p.R71L) - BAG3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.230C>T r.(?) p.(Pro77Leu) - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.230C>T r.(?) p.(Pro77Leu) - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.230C>T r.(?) p.(Pro77Leu) - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.230C>T r.(?) p.(Pro77Leu) - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L), BAG3(NM_004281.4):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.230C>T r.(?) p.Pro77Leu ACMG VUS g.121429412C>T g.119669900C>T - - BAG3_000055 patient has a likely pathogenic variant in MYOT - - rs141355480 Germline - - - - - Andreas Laner
-/. - c.231G>A r.(?) p.(Pro77=) - benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.231G>A r.(?) p.(Pro77=) - likely benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.231G>A r.(?) p.(Pro77=) - benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.231G>A r.(?) p.(Pro77=) - likely benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.231G>A r.(?) p.(Pro77=) - likely benign g.121429413G>A - BAG3(NM_004281.3):c.231G>A (p.P77=), BAG3(NM_004281.4):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.245dup r.(?) p.(His83ProfsTer19) - likely pathogenic g.121429427dup g.119669915dup BAG3(NM_004281.3):c.245dupG (p.H83Pfs*19) - BAG3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.249C>A r.(?) p.(His83Gln) - benign g.121429431C>A g.119669919C>A BAG3(NM_004281.3):c.249C>A (p.H83Q), BAG3(NM_004281.4):c.249C>A (p.H83Q) - BAG3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.249C>A r.(?) p.(His83Gln) - benign g.121429431C>A g.119669919C>A BAG3(NM_004281.3):c.249C>A (p.H83Q), BAG3(NM_004281.4):c.249C>A (p.H83Q) - BAG3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.256dup r.(?) p.(Tyr86Leufs*16) - pathogenic g.121429438dup - - - BAG3_000163 - - - - Germline - - - - - Gemeinschaftspraxis für Humangenetik Dresden
+/. - c.268C>T r.(?) p.(Arg90*) - pathogenic g.121429450C>T - - - BAG3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.277T>C r.(?) p.(Tyr93His) - VUS g.121429459T>C g.119669947T>C - - BAG3_000210 - PubMed: Marti 2025 - - Germline - - - - - Johan den Dunnen
-?/. - c.280A>T r.(?) p.(Ile94Phe) - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.280A>T r.(?) p.(Ile94Phe) - VUS g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.280A>T r.(?) p.(Ile94Phe) - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.280A>T r.(?) p.(Ile94Phe) - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.280A>T r.(?) p.(Ile94Phe) - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.280A>T r.(?) p.(Ile94Phe) - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)), BAG3(NM_004281.4):c.280A>T (p.I94F) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.280A>T r.(?) p.(Ile94Phe) - VUS g.121429462A>T g.119669950A>T - - BAG3_000104 - PubMed: Miszalski-Jamka 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.343C>T r.(?) p.(Pro115Ser) - VUS g.121429525C>T g.119670013C>T BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S) - BAG3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.343C>T r.(?) p.(Pro115Ser) - likely benign g.121429525C>T g.119670013C>T BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S) - BAG3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.343C>T r.(?) p.(Pro115Ser) - likely benign g.121429525C>T g.119670013C>T BAG3(NM_004281.3):c.343C>T (p.P115S), BAG3(NM_004281.4):c.343C>T (p.P115S) - BAG3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.361C>T r.(?) p.(Arg121*) - pathogenic g.121429543C>T - - - BAG3_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.362G>A r.(?) p.(Arg121Gln) - VUS g.121429544G>A - - - BAG3_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.367C>T r.(?) p.(Arg123*) - pathogenic g.121429549C>T - - - BAG3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.368G>A r.(?) p.(Arg123Gln) - VUS g.121429550G>A - BAG3(NM_004281.4):c.368G>A (p.R123Q) - BAG3_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.381A>T r.(?) p.(Ala127=) - benign g.121429563A>T g.119670051A>T BAG3(NM_004281.4):c.381A>T (p.A127=) - BAG3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.381A>T r.(?) p.(Ala127=) - likely benign g.121429563A>T - BAG3(NM_004281.4):c.381A>T (p.A127=) - BAG3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.382G>A r.(?) p.(Ala128Thr) - likely benign g.121429564G>A g.119670052G>A BAG3(NM_004281.3):c.382G>A (p.A128T) - BAG3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.392C>T r.(?) p.(Pro131Leu) - VUS g.121429574C>T - BAG3(NM_004281.3):c.392C>T (p.P131L) - BAG3_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.400T>A r.(?) p.(Ser134Thr) - VUS g.121429582T>A g.119670070T>A BAG3(NM_004281.3):c.400T>A (p.S134T), BAG3(NM_004281.4):c.400T>A (p.S134T) - BAG3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.400T>A r.(?) p.(Ser134Thr) - likely benign g.121429582T>A g.119670070T>A BAG3(NM_004281.3):c.400T>A (p.S134T), BAG3(NM_004281.4):c.400T>A (p.S134T) - BAG3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.400T>A r.(?) p.(Ser134Thr) - likely benign g.121429582T>A g.119670070T>A BAG3(NM_004281.3):c.400T>A (p.S134T), BAG3(NM_004281.4):c.400T>A (p.S134T) - BAG3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.415C>T r.(?) p.(Arg139Trp) - VUS g.121429597C>T g.119670085C>T - - BAG3_000022 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - Ellika Sahlin
?/. 2 c.415C>T r.(?) p.(Arg139Trp) - VUS g.121429597C>T g.119670085C>T - - BAG3_000022 - PubMed: Karthikeyan 2024 - - Germline/De novo (untested) - - - - - Lakshmi Bremadesam
?/. - c.416G>A r.(?) p.(Arg139Gln) - VUS g.121429598G>A g.119670086G>A BAG3(NM_004281.4):c.416G>A (p.R139Q) - BAG3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.418G>A r.(?) p.(Gly140Ser) - likely benign g.121429600G>A g.119670088G>A BAG3(NM_004281.3):c.418G>A (p.G140S) - BAG3_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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