1 |
BAG3
|
BAG3, EX4DEL
|
deletion |
Pathogenic |
|
|
|
2 |
BAG3
|
NM_004281.3(BAG3): c.367C> T (p.Arg123Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs387906875
|
GRCh37 |
Chromosome 10, 121429549: 121429549 |
3 |
BAG3
|
BAG3, 1-BP DEL, 652C
|
deletion |
Pathogenic |
|
|
|
4 |
BAG3
|
NM_004281.3(BAG3): c.1430G> A (p.Arg477His)
|
single nucleotide variant |
Pathogenic |
rs387906876
|
GRCh37 |
Chromosome 10, 121436496: 121436496 |
5 |
BAG3
|
NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs397514506
|
GRCh37 |
Chromosome 10, 121431911: 121431911 |
6 |
BAG3
|
NM_004281.3(BAG3): c.1385T> C (p.Leu462Pro)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs397514507
|
GRCh37 |
Chromosome 10, 121436451: 121436451 |
7 |
BAG3
|
NM_004281.3(BAG3): c.1067delC (p.Pro356Hisfs)
|
deletion |
Likely pathogenic |
rs727505109
|
GRCh38 |
Chromosome 10, 119676621: 119676621 |
8 |
BAG3
|
NM_004281.3(BAG3): c.925C> T (p.Arg309Ter)
|
single nucleotide variant |
Pathogenic |
rs869248137
|
GRCh37 |
Chromosome 10, 121435991: 121435991 |
9 |
BAG3
|
NM_004281.3(BAG3): c.699C> A (p.Tyr233Ter)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs876661342
|
GRCh37 |
Chromosome 10, 121431958: 121431958 |
10 |
BAG3
|
NM_004281.3(BAG3): c.268C> T (p.Arg90Ter)
|
single nucleotide variant |
Pathogenic |
rs1057517945
|
GRCh37 |
Chromosome 10, 121429450: 121429450 |
11 |
BAG3
|
NM_004281.3(BAG3): c.1345A> T (p.Lys449Ter)
|
single nucleotide variant |
Likely pathogenic |
rs1060502815
|
GRCh38 |
Chromosome 10, 119676899: 119676899 |
12 |
BAG3
|
NM_004281.3(BAG3): c.607dupC (p.Arg203Profs)
|
duplication |
Pathogenic |
|
GRCh38 |
Chromosome 10, 119672354: 119672354 |
13 |
BAG3
|
NM_004281.3(BAG3): c.1240G> T (p.Glu414Ter)
|
single nucleotide variant |
Likely pathogenic |
rs117749531
|
GRCh38 |
Chromosome 10, 119676794: 119676794 |
14 |
BAG3
|
NM_004281.3(BAG3): c.670dup (p.Ser224Phefs)
|
duplication |
Likely pathogenic |
rs1135402750
|
GRCh38 |
Chromosome 10, 119672417: 119672417 |
15 |
BAG3
|
NM_004281.3(BAG3): c.1296_1297invAC (p.Gln433Ter)
|
inversion |
Likely pathogenic |
|
GRCh37 |
Chromosome 10, 121436362: 121436363 |
16 |
BAG3
|
NM_004281.3(BAG3): c.1161dup (p.Lys388Glnfs)
|
duplication |
Likely pathogenic |
|
GRCh37 |
Chromosome 10, 121436227: 121436227 |