1
1
|
1
|
0
|
|
Beta‐ureidopropionase deficiency (UPB1D)
|
UPB1
|
AR
|
1
|
1
|
2
|
2
|
2
|
1
|
|
Biotinidase deficiency
|
BTD
|
AR
|
3
|
5
|
2
|
3
|
2
|
2
|
|
Birt–Hogg–Dube syndrome (BHD)
|
FLCN
|
AD
|
1
|
2
|
1
|
1
|
1
|
1
|
|
Bleeding disorder, platelet‐type, 16 (BDPLT16)
|
ITGB3
|
AD
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Blepharophimosis, ptosis, and epicanthus inversus (BPES)
|
FOXL2
|
AD
|
3
|
7
|
5
|
7
|
3
|
3
|
|
Blood group – Kell–Cellano system
|
KEL
|
AR
|
14
|
32
|
19
|
32
|
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,
|
1
