Full data view for gene BAG3

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.

294 entries on 3 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     
-?/. - c.-271C>T r.(?) p.(=) Unknown - likely benign g.121410917C>T g.119651405C>T - - BAG3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-143_-142insAGT r.(?) p.(=) Unknown - likely benign g.121411045_121411046insAGT g.119651533_119651534insAGT - - BAG3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-95G>A r.(?) p.(=) Unknown - likely benign g.121411093G>A g.119651581G>A - - BAG3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-86G>A r.(?) p.(=) Unknown - likely benign g.121411102G>A g.119651590G>A - - BAG3_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27G>T r.(?) p.(=) Unknown - likely benign g.121411161G>T g.119651649G>T - - BAG3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17G>A r.(?) p.(=) Unknown - benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-17G>A r.(?) p.(=) Unknown - likely benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-17G>A r.(?) p.(=) Unknown - benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-17G>A r.(?) p.(=) Unknown - benign g.121411171G>A g.119651659G>A BAG3(NM_004281.3):c.-17G>A - BAG3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4C>T r.(?) p.(=) Unknown - VUS g.121411184C>T g.119651672C>T BAG3(NM_004281.3):c.-4C>T - BAG3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.25A>G r.(?) p.(Met9Val) Unknown - benign g.121411212A>G g.119651700A>G BAG3(NM_004281.3):c.25A>G (p.M9V) - BAG3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.25A>G r.(?) p.(Met9Val) Unknown - likely benign g.121411212A>G g.119651700A>G BAG3(NM_004281.3):c.25A>G (p.M9V) - BAG3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25A>G r.(?) p.(Met9Val) Unknown - likely benign g.121411212A>G - BAG3(NM_004281.3):c.25A>G (p.M9V) - BAG3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.34G>A r.(?) p.(Val12Met) Unknown - likely benign g.121411221G>A g.119651709G>A - - BAG3_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52G>A r.(?) p.(Asp18Asn) Unknown - VUS g.121411239G>A g.119651727G>A BAG3(NM_004281.3):c.52G>A (p.D18N) - BAG3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.67C>T r.(?) p.(Pro23Ser) Unknown - VUS g.121411254C>T g.119651742C>T BAG3(NM_004281.3):c.67C>T (p.P23S) - BAG3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.72del r.(?) p.(Gly25AspfsTer186) Unknown - pathogenic g.121411259del g.119651747del BAG3(NM_004281.3):c.72delC (p.G25Dfs*186) - BAG3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.72del r.(?) p.(Gly25AspfsTer186) Unknown - pathogenic g.121411259del g.119651747del BAG3(NM_004281.3):c.72delC (p.G25Dfs*186) - BAG3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>T r.(?) p.(Pro32=) Unknown - likely benign g.121411283G>T g.119651771G>T BAG3(NM_004281.3):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>T r.(?) p.(Pro32=) Unknown - likely benign g.121411283G>T g.119651771G>T BAG3(NM_004281.3):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.96G>T r.(?) p.(Pro32=) Unknown - likely benign g.121411283G>T g.119651771G>T BAG3(NM_004281.3):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96G>T r.(?) p.(Pro32=) Unknown - benign g.121411283G>T - BAG3(NM_004281.3):c.96G>T (p.P32=) - BAG3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.111C>G r.(?) p.(Pro37=) Unknown - likely benign g.121411298C>G g.119651786C>G - - BAG3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.127A>G r.(?) p.(Asn43Asp) Unknown - likely pathogenic g.121411314A>G g.119651802A>G - - BAG3_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.172G>A r.(?) p.(Gly58Ser) Unknown - VUS g.121411359G>A g.119651847G>A - - BAG3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.180+1G>A r.spl? p.? Unknown - pathogenic g.121411368G>A g.119651856G>A BAG3(NM_004281.3):c.180+1G>A - BAG3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.180+3G>A r.spl? p.? Unknown - VUS g.121411370G>A g.119651858G>A BAG3(NM_004281.3):c.180+3G>A - BAG3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.181-12T>C r.(=) p.(=) Unknown - likely benign g.121429351T>C - - - BAG3_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.181-9T>A r.(=) p.(=) Unknown - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.181-9T>A r.(=) p.(=) Unknown - likely benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.181-9T>A r.(=) p.(=) Unknown - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.181-9T>A r.(=) p.(=) Unknown - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.181-9T>A r.(=) p.(=) Unknown - benign g.121429354T>A g.119669842T>A BAG3(NM_004281.3):c.181-9T>A - BAG3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.187C>G r.(?) p.(Pro63Ala) Unknown - pathogenic g.121429369C>G g.119669857C>G - - BAG3_000021 variant is pathogenic but not causing disease - - - Germline - - - 0 - DNA SEQ-NG-I - - PAPA-6 BD267-4 - - M yes Pakistan Pastoon - 0 - - 1 Muhammad Umair
-/. - c.187C>G r.(?) p.(Pro63Ala) Unknown - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.187C>G r.(?) p.(Pro63Ala) Unknown - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.187C>G r.(?) p.(Pro63Ala) Unknown - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.187C>G r.(?) p.(Pro63Ala) Unknown - benign g.121429369C>G g.119669857C>G BAG3(NM_004281.3):c.187C>G (p.P63A) - BAG3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.211C>T r.(?) p.(Arg71Trp) Unknown - likely pathogenic g.121429393C>T g.119669881C>T BAG3(NM_004281.3):c.211C>T (p.R71W) - BAG3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.212G>A r.(?) p.(Arg71Gln) Unknown - likely benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.212G>A r.(?) p.(Arg71Gln) Unknown - likely benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.212G>A r.(?) p.(Arg71Gln) Unknown - benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.212G>A r.(?) p.(Arg71Gln) Unknown - VUS g.121429394G>A g.119669882G>A - - BAG3_000003 - - - rs35434411 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.212G>A r.(?) p.(Arg71Gln) Unknown - benign g.121429394G>A g.119669882G>A BAG3(NM_004281.3):c.212G>A (p.R71Q) - BAG3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212G>A r.(?) p.(Arg71Gln) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 25 Mohammed Faruq
?/. - c.212G>T r.(?) p.(Arg71Leu) Unknown - VUS g.121429394G>T g.119669882G>T BAG3(NM_004281.3):c.212G>T (p.R71L) - BAG3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.212G>T r.(?) p.(Arg71Leu) Unknown - likely benign g.121429394G>T g.119669882G>T BAG3(NM_004281.3):c.212G>T (p.R71L) - BAG3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.230C>T r.(?) p.Pro77Leu Unknown ACMG VUS g.121429412C>T g.119669900C>T - - BAG3_000055 patient has a likely pathogenic variant in MYOT - - rs141355480 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
-?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely benign g.121429412C>T g.119669900C>T BAG3(NM_004281.3):c.230C>T (p.P77L) - BAG3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.231G>A r.(?) p.(Pro77=) Unknown - benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.231G>A r.(?) p.(Pro77=) Unknown - likely benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.231G>A r.(?) p.(Pro77=) Unknown - benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.231G>A r.(?) p.(Pro77=) Unknown - likely benign g.121429413G>A g.119669901G>A BAG3(NM_004281.3):c.231G>A (p.P77=) - BAG3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.245dup r.(?) p.(His83ProfsTer19) Unknown - likely pathogenic g.121429427dup g.119669915dup BAG3(NM_004281.3):c.245dupG (p.H83Pfs*19) - BAG3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.249C>A r.(?) p.(His83Gln) Unknown - benign g.121429431C>A g.119669919C>A BAG3(NM_004281.3):c.249C>A (p.H83Q) - BAG3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.249C>A r.(?) p.(His83Gln) Unknown - benign g.121429431C>A g.119669919C>A BAG3(NM_004281.3):c.249C>A (p.H83Q) - BAG3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.256dup r.(?) p.(Tyr86Leufs*16) Unknown - pathogenic g.121429438dup - - - BAG3_000163 - - - - Germline - - - - - DNA SEQ - - CMD-1HH - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.280A>T r.(?) p.(Ile94Phe) Unknown - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280A>T r.(?) p.(Ile94Phe) Unknown - VUS g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>T r.(?) p.(Ile94Phe) Unknown - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>T r.(?) p.(Ile94Phe) Unknown - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>T r.(?) p.(Ile94Phe) Unknown - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.280A>T r.(?) p.(Ile94Phe) Unknown - likely benign g.121429462A>T g.119669950A>T BAG3(NM_004281.3):c.280A>T (p.I94F, p.(Ile94Phe)) - BAG3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343C>T r.(?) p.(Pro115Ser) Unknown - VUS g.121429525C>T g.119670013C>T BAG3(NM_004281.3):c.343C>T (p.P115S) - BAG3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.343C>T r.(?) p.(Pro115Ser) Unknown - likely benign g.121429525C>T g.119670013C>T BAG3(NM_004281.3):c.343C>T (p.P115S) - BAG3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.343C>T r.(?) p.(Pro115Ser) Unknown - likely benign g.121429525C>T g.119670013C>T BAG3(NM_004281.3):c.343C>T (p.P115S) - BAG3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.381A>T r.(?) p.(Ala127=) Unknown - benign g.121429563A>T g.119670051A>T BAG3(NM_004281.3):c.381A>T (p.A127=) - BAG3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.382G>A r.(?) p.(Ala128Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.392C>T r.(?) p.(Pro131Leu) Unknown - VUS g.121429574C>T - BAG3(NM_004281.3):c.392C>T (p.P131L) - BAG3_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400T>A r.(?) p.(Ser134Thr) Unknown - VUS g.121429582T>A g.119670070T>A BAG3(NM_004281.3):c.400T>A (p.S134T) - BAG3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400T>A r.(?) p.(Ser134Thr) Unknown - likely benign g.121429582T>A g.119670070T>A BAG3(NM_004281.3):c.400T>A (p.S134T) - BAG3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400T>A r.(?) p.(Ser134Thr) Unknown - likely benign g.121429582T>A g.119670070T>A BAG3(NM_004281.3):c.400T>A (p.S134T) - BAG3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.415C>T r.(?) p.(Arg139Trp) Unknown - VUS g.121429597C>T g.119670085C>T - - BAG3_000022 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 210 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - 1 Ellika Sahlin
?/. - c.416G>A r.(?) p.(Arg139Gln) Unknown - VUS g.121429598G>A g.119670086G>A BAG3(NM_004281.3):c.416G>A (p.R139Q) - BAG3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.418G>A r.(?) p.(Gly140Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.451T>C r.(?) p.(Cys151Arg) Unknown - benign g.121429633T>C g.119670121T>C BAG3(NM_004281.3):c.451T>C (p.C151R) - BAG3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.451T>C r.(?) p.(Cys151Arg) Unknown - VUS g.121429633T>C g.119670121T>C - - BAG3_000004 - - - rs2234962 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.451T>C r.(?) p.(Cys151Arg) Unknown - benign g.121429633T>C g.119670121T>C BAG3(NM_004281.3):c.451T>C (p.C151R) - BAG3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.451T>C r.(?) p.(Cys151Arg) Unknown - benign g.121429633T>C g.119670121T>C BAG3(NM_004281.3):c.451T>C (p.C151R) - BAG3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.452G>A r.(?) p.(Cys151Tyr) Unknown - VUS g.121429634G>A g.119670122G>A BAG3(NM_004281.3):c.452G>A (p.C151Y) - BAG3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.455G>A r.(?) p.(Gly152Glu) Unknown - likely benign g.121429637G>A g.119670125G>A - - BAG3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.462_464dup r.(?) p.(Ala160dup) Unknown - likely benign g.121429644_121429646dup g.119670132_119670134dup - - BAG3_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - benign g.121429645G>A g.119670133G>A BAG3(NM_004281.3):c.463G>A (p.A155T) - BAG3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - VUS g.121429645G>A g.119670133G>A BAG3(NM_004281.3):c.463G>A (p.A155T) - BAG3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - likely benign g.121429645G>A g.119670133G>A BAG3(NM_004281.3):c.463G>A (p.A155T) - BAG3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - benign g.121429645G>A g.119670133G>A BAG3(NM_004281.3):c.463G>A (p.A155T) - BAG3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.463G>A r.(?) p.(Ala155Thr) Unknown - benign g.121429645G>A g.119670133G>A BAG3(NM_004281.3):c.463G>A (p.A155T) - BAG3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.465A>G r.(?) p.(Ala155=) Unknown - benign g.121429647A>G g.119670135A>G BAG3(NM_004281.3):c.465A>G (p.A155=) - BAG3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.470C>T r.(?) p.(Ala157Val) Unknown - VUS g.121429652C>T - BAG3(NM_004281.3):c.470C>T (p.A157V) - BAG3_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.471G>A r.(?) p.(Ala157=) Unknown - benign g.121429653G>A g.119670141G>A BAG3(NM_004281.3):c.471G>A (p.A157=) - BAG3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.474_475insCGG r.(?) p.(Ala158_Ala159insArg) Unknown - benign g.121429656_121429657insCGG g.119670144_119670145insCGG BAG3(NM_004281.3):c.474_475insCGG (p.A158_A159insR) - BAG3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474_476dup r.(?) p.(Ala160dup) Unknown - benign g.121429656_121429658dup g.119670144_119670146dup BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup) - BAG3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474_476dup r.(?) p.(Ala160dup) Unknown - VUS g.121429656_121429658dup g.119670144_119670146dup BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup) - BAG3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.474_476dup r.(?) p.(Ala160dup) Unknown - benign g.121429656_121429658dup g.119670144_119670146dup BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup) - BAG3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.474_476dup r.(?) p.(Ala160dup) Unknown - VUS g.121429656_121429658dup g.119670144_119670146dup BAG3(NM_004281.3):c.474_476dupGGC (p.A160dup) - BAG3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.483G>A r.(?) p.(Gln161=) Unknown - benign g.121429665G>A g.119670153G>A BAG3(NM_004281.3):c.483G>A (p.Q161=) - BAG3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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