Table 6.
Variations in candidate cardiomyopathy genes
| Gene symbol | Chromosome | Reference position | AA exchange | Reference allele | Variant allele | Confirmed by sanger sequencing | Huvariome alleles | Known pathological variant | Gene strand | HGMD |
|---|---|---|---|---|---|---|---|---|---|---|
| LMNA |
1 |
154372340 |
R>Stop |
C |
T |
Yes |
C/C |
R321ter |
+ |
Cardiomyopathy,_dilated|961C>T |
| TNNT2 |
1 |
199599130 |
E163fs |
C |
-- |
No |
C/C |
|
-- |
Cardiomyopathy,_hypertrophic|487G>A |
| SMYD2 |
1 |
212558105 |
H>Y |
C |
T |
Yes |
C/C |
|
|
|
| DSP |
6 |
7525794 |
R>G |
C |
G |
No |
C/C |
|
|
Arrhythmogenic_right_ventricular_dysplasia/ cardiomyopathy|4372C>G |
| TMEM2 |
9 |
73505380 |
T>T |
C |
T |
Yes |
C/C |
|
|
|
| ILK |
11 |
6585971 |
P>L |
C |
T |
No |
C/C |
|
|
Cardiomyopathy,_dilated|209C>T |
| MYBPC3 |
11 |
47324447 |
R>Q |
C |
T |
Yes |
C/C |
R326Q |
-- |
Cardiomyopathy,_hypertrophic|977G>A |
| MYBPC3 |
11 |
47313209-47313210 |
P955fs |
CT |
-- |
Yes |
AG/AG |
P955fs |
|
Cardiomyopathy,_hypertrophic|2864_2865delCT |
| MYBPC3 |
11 |
47321263-47321264 |
F412fs |
TT |
-- |
Yes |
AA/AA |
F412fs |
|
Cardiomyopathy,_hypertrophic|1235_1236delTT |
| MYH7 |
14 |
22963165 |
C905fs |
G |
-- |
No |
A/A |
|
|
|
| MYH7 |
14 |
22968054 |
R>C |
G |
A |
Yes |
G/G |
R453C |
-- |
Cardiomyopathy,_hypertrophic|1357C>A |
| MYH7 |
14 |
22971706 |
Y>H |
A |
G |
Yes |
A/A |
|
|
Cardiomyopathy,_hypertrophic|484T>C |
| MYH7 | 14 | 22971762 | R>Q | C | T | Yes | C/C | R143Q | -- | Cardiomyopathy,_hypertrophic|428G>A |
Genomic nucleotide positions 1-based (Reference Position), nucleotides (Reference and Variant Alleles), and Confirmation by Sanger Sequencing are determined by Meder et al. 2011 [25]. Huvariome alleles are represented with the NCBI build 36 reference allele first in the pair (e.g. T/C with T from NCBI build 36). Variants that have previously been found to be associated with cardiomyopathy are denoted by Known Pathological Variant [25] and cardiomyopathy variations derived from the professional edition of Human Gene Mutation Database (HGMD) were supplied by Biobase. The HGMD descriptions in bold are linked to the first being described by Meder et al. 2011 [25] as related to dilated or hypertrophic cardiomyopathy.