Case | Pathology | Gene | Inheritance | Variations | Protein | Origin | Pathogenicity | ACMG criterion | PMID |
---|---|---|---|---|---|---|---|---|---|
1 | CCD | RYR1 | AD | c.14596A > G‡ | p.(Lys4866Gln) | De novo | Pathogenic | PS2 + PM1 + PM2 + PP3 + PP4 | 25,331,388 |
2 | CCD | RYR1 | AD | c.7111G > A‡ | p.(Glu2371Lys) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PP3 + PP4 + PP5 | 29,293,505 |
3# | CCD | RYR1 | AD | c.14678 G > A‡ | p.(Arg4893Gln) | Paternal | LP | PM1 + PM2 + PP3 + PP4 + PP5 | 12,565,913 |
4# | CCD | RYR1 | AD | c.14741G > C‡ | p.(Arg4914Thr) | Paternal | Pathogenic | PS1 + PM1 + PM2 + PP3 + PP4 + PP5 | 12,565,931 |
5 | MmD | TTN | AR | c.85818 T > A | p.(Tyr28606Ter) | Paternal | Pathogenic | PVS1 + PS1 + PM2 + PP3 + PP4 + PP5 | |
c.102798_102800del | p.(Asn34266del) | Maternal | LP | PM2 + PM3 + PM4 + PP4 | |||||
6 | MmD | RYR1 | AR | c.3880G > T | p.(Val1294Phe) | Maternal | LP | PM1 + PM2 + PP3 + PP4 + PP5 | |
c.14473C > T‡ | p.(Arg4825Cys) | Paternal | Pathogenic | PS1 + PM1 + PM2 + PP3 + PP4 + PP5 | 20,301,565 | ||||
7# | MmD | RYR1 | AR | c.658C > T | p.(Arg220Cys) | Paternal | LP | PM1 + PM2 + PP1 + PP3 + PP4 + PP5 | |
c.4715 T > C | p.(Met1572Thr) | Maternal | LP | PM1 + PM2 + PP1 + PP3 + PP4 + PP5 | |||||
8 | MmD | RYR1 | AR | c.4454G > A | p.(Ser1485Asn) | Paternal | LP | PM1 + PM2 + PP3 + PP4 + PP5 | |
c.3494G > A‡ | p.(Gly1165Asp) | Maternal | Pathogenic | PS1 + PM1 + PM2 + PP3 + PP4 | 21,911,697 | ||||
9 | NM | TNNT1 | AR | c.1A > G | p.? | Maternal | Pathogenic | PVS1 + PM2 + PP4 + PP5 | |
c.353delC | p. (Thr118Metfs Ter16) | Paternal | Pathogenic | PVS1 + PM2 + PP4 | |||||
10 | NM | NEB | AR | c.18808C > T‡ | p.(Arg6270Ter) | Maternal | Pathogenic | PVS1 + PS1 + PM2 + PP3 + PP4 + PP5 | 25,205,138 |
c.2311-2A > C‡ | p.? | Paternal | Pathogenic | PVS1 + PM2 + PP4 | 32,222,963 | ||||
12 | CNM | TTN | AR | c.2099_2106dup | p.(Ala703LysfsTer3) | Maternal | Pathogenic | PVS1 + PS1 + PM2 + PM3 + PP4 | |
c.107377 + 1G > A‡ | p.? | Paternal | Pathogenic | PVS1 + PS1 + PM2 + PP4 | 25,589,632 | ||||
13 | CNM | RYR1 | AR | c.6823G > A | p. (Val2275Met) | Maternal | LP | PM1 + PM2 + PP3 + PP4 + PP5 | |
c.2044C > G | p.(Arg682Gly) | Paternal | LP | PM1 + PM2 + PM5 + PP3 + PP4 + PP5 | |||||
14 | CNM | TTN | AR | c.95341C > T‡ | p.(Arg31781Ter) | De novo | Pathogenic | PVS1 + PS2 + PM2 + PP3 + PP4 | 25,163,546 |
c.32312-1G > A | p.? | Maternal | Pathogenic | PVS1 + PS1 + PM2 + PP4 | |||||
15 | CNM | DNM2 | AD | c.1893 + 1G > A | p.? | De novo | Pathogenic | PVS1 + PS1 + PS2 + PM2 + PP4 | |
16 | CNM | DNM2 | AD | c.1856C > T‡ | p.(Ser619Leu) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 | 32,860,008 |
17 | CFTD | RYR1 | AR | c.12536G > A‡ | p.(Arg4179His) | Maternal | Pathogenic | PS1 + PM1 + PM2 + PP3 + PP4 | 21,062,345 |
c.1675dup | p.(Ile559AsnfsTer11) | Paternal | Pathogenic | PVS1 + PM2 + PS1 + PP4 | |||||
18 | / | RYR1 | AR | c.3523G > A‡ | p.(Glu1175Lys) | Maternal | LP | PM1 + PM2 + PP3 + PP4 | 25,635,128 |
c.7330C > T | p.(Gln2444Ter) | Paternal | Pathogenic | PVS1 + PS1 + PM2 + PP4 + PP5 | |||||
34 | CCD | RYR1 | AD | c.14447A > G‡ | p.(Asp4816Gly) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PM5 +PP3 + PP4 + PP5 | 23,553,484 |
35 | CCD | RYR1 | AD | c.14582G > A‡ | p.(Arg4861His) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PP3 + PP4 | 25,521,991 |
36# | NM | NEB | AR | c.3567 + 1G > A | p.? | Paternal | Pathogenic | PVS1 + PS1 + PM2 + PP3 + PP4 | |
c.6734dupA | p. (Thr2246Aspfs Ter8) | Maternal | Pathogenic | PVS1 + PM2 + PP3 + PP4 | |||||
37 | NM | NEB | AR | c.19944G > A‡ | p.? | Maternal | LP | PS1 + PM2 + PP3 + PP4 | 25,205,138 |
c.6029del‡ | p. (Ile2010Thrfs Ter14) | Paternal | Pathogenic | PVS1+ PM2 + PP4 | 32,222,963 | ||||
38 | NM | NEB | AR | c.7818delG‡ | p. (Met2606Ilefs Ter13) | Paternal | Pathogenic | PVS1+ PM2 + PP4 | 32,222,963 |
c.24579G > A ‡ | p.? | Maternal | LP | PS1 + PM2 + PP3 + PP4 + PP5 | 24,725,366 | ||||
39 | NM | ACTA1 | AD | c.400A > G‡ | p.(Met134Val) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 | 10,508,519 |
40 | NM | ACTA1 | AD | c.515C > G‡ | p.(Ala172Gly) | De novo | Pathogenic | PS2 + PM2 + PM5 + PP2 + PP3 + PP4 | 12,921,789 |
41 | NM | ACTA1 | AD | c.402G > T | p.(Met134Ile) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 | |
42 | NM | ACTA1 | AD | c.109G > T‡ | p.(Val37Leu) | De novo | Pathogenic | PS1 + PS2 + PM1 + PM2 + PP2 + PP3 + PP4 + PP5 | 25,326,635 |