5
5
|
|
Brachydactyly, type B1 (BDB1)
|
ROR2
|
AD
|
1
|
3
|
2
|
4
|
2
|
2
|
|
Branchiooculofacial syndrome (BOFS)
|
TFAP2A
|
AD
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Breast cancer
|
PALB2
|
AD
|
2
|
4
|
2
|
2
|
1
|
1
|
|
Breast–ovarian cancer, familial, susceptibility to, 1 (BROVCA1)
|
BRCA1
|
AD
|
93
|
175
|
128
|
183
|
89
|
83
|
|
Breast–ovarian cancer, familial, susceptibility to, 2 (BROVCA2)
|
BRCA2
|
AD
|
64
|
123
|
87
|
122
|
55
|
51
|
|
Campomelic dysplasia with autosomal sex reversal
|
SOX9
|
AD
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Camurati–Engelmann disease (CAEND)
|
TGFB1
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Canavan disease
|
ASPA
|
AR
|
4
|
6
|
5
|
7
|
5
|
5
|
|
Carbamoyl phosphate synthetase i deficiency
|
CPS1
|
AR
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
|
SCO2
|
AR
|
2
|
5
|
5
|
10
|
3
|
3
|
|
Cardiomyopathy, dilated, 1A (CMD1A)
|
LMNA
|
AR
|
7
|
17
|
16
|
25
|
10
|
8
|
|
Cardiomyopathy, dilated, 1DD (CMD1DD)
|
RBM20
|
AD
|
1
|
2
|
2
|
2
|
2
|
2
|
|
Cardiomyopathy, dilated, 1E (CMD1E)
|
SCN5A
|
AD
|
1
|
2
|
2
|
2
|
1
|
1
|
|
Cardiomyopathy, dilated, 1G (CMD1G)
|
TTN
|
AD
|
2
|
2
|
3
|
3
|
1
|
1
|
|
Cardiomyopathy, dilated, 1S (CMD1S)
|
MYH7
|
AD
|
3
|
6
|
4
|
4
|
2
|
2
|
|
Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)
|
DSP
|
AD
|
2
|
3
|
2
|
3
|
2
|
1
|
|
Cardiomyopathy, familial hypertrophic, 2 (CMH2)
|
TNNT2
|
AD
|
1
|
2
|
1
|
1
|
1
|
0
|
|
Cardiomyopathy, familial hypertrophic, 4 (CMH4)
|
MYBPC3
|
AD
|
14
|
22
|
16
|
23
|
11
|
9
|
|
Cardiomyopathy, familial hypertrophic, 7 (CMH7)
|
TNNI3
|
AD
|
1
|
1
|
1
|
1
|
0
|
0
|
|
Cardiomyopathy, familial hypertrophic, 8 (CMH8)
|
