DSP
|
1 |
Heterozygous |
c.3383_3384del |
Val1128Glyfs*5 |
VUS (PM2; PP1; PVS1_mod) |
Pathogenic (PM2; PP1; PP3; PVS1) |
DSP
|
1 |
Heterozygous |
c.6393del |
p.Gly2133Valfs*2 |
VUS (PM2; PVS1_mod) |
Pathogenic (PM2; PP3; PVS1; PP5) |
DSP
|
2 |
Heterozygous |
c.7773_7776del |
p.Ser2591Argfs*11 |
VUS (PM2: PS4_sup; PVS1_mod) |
Pathogenic (PM2; PP3; PVS1) |
MYH7
|
1 |
Heterozygous |
c.5722G>A |
p.Glu1908Lys |
VUS (PM2; PP3) |
Likely pathogenic (PM1; PM2; PP1; PP3) |
MYH7
|
1 |
Heterozygous |
c.732+1G>A |
Disruptscanonicalsplice site |
VUS (PM2; PS4_sup: PVS1_mod) |
Likely pathogenic (PM2; PP1; PP3; PP4; PP5) |
NEXN
|
2 |
Heterozygous |
c.1909_1912del |
p.Tyr637Alafs*48 |
VUS (PM2; PP1; PS4_sup) |
Likely pathogenic (PM2; PP1; PP3; PP4; PP5) |
RBM20
|
1 |
Heterozygous |
c.1528-1G>C |
p.? |
VUS (PM2) |
Likely pathogenic (PM2; PP1; PP3; PP4; PVS1) |
RBM20
|
1 |
Heterozygous |
c.1764T>G |
p.Ile588Met |
VUS (PM2) |
Likely pathogenic (PM1; PM2; PP3; PP4) |
RBM20
|
1 |
Heterozygous |
c.419del |
p.Pro140Argfs*3 |
VUS (PM2) |
Pathogenic (PM2; PP1; PP3; PP4; PVS1) |
TNNC1
|
1 |
Heterozygous |
c.317+1G>A |
Disruptscanonicalsplice site |
VUS (PM2; PP1_mod; PS4_sup) |
Likely pathogenic (PS3; PM2; PP1; PP3;) |
TNNT2
|
5 |
Heterozygous |
c.742T>G |
p.Phe248Val |
VUS (PM2; PP1; PP3; PS4_sup) |
Likely pathogenic (PM1; PM2; PP1; PP3; PP4) |
TNNT2
|
1 |
Heterozygous |
c.442C>T |
p.Arg148Trp |
VUS (PM2; PM5; PP3) |
Likely pathogenic (PM5; PM1; PM2; PP3; PP2) |