| ME028 |
PWS/AS |
1 |
| ME030 |
BWS/RSS |
1 |
| P002 |
BRCA1 |
6 |
| P003 |
MLH1/MSH2 |
4 |
| P008 |
PMS2 |
2 |
| P015 |
MECP2 |
1 |
| P016 |
VHL |
1 |
| P017 |
MEN1 |
1 |
| P018 |
SHOX |
2 |
| P021 |
SMA |
2 |
| P031 |
FANCA mix 1 |
1 |
| P032 |
FANCA mix 2 |
1 |
| P033 |
CMT1 |
1 |
| P034 |
DMD-1 |
1 |
| P035 |
DMD-2 |
1 |
| P036 |
Subtelomeres Mix 1 |
1 |
| P041 |
ATM-1 |
3 |
| P042 |
ATM-2 |
3 |
| P043 |
APC |
2 |
| P044 |
NF2 |
2 |
| P045 |
BRCA2/CHEK2 |
6 |
| P046 |
TSC2 |
3 |
| P047 |
RB1 |
1 |
| P056 |
TP53 |
3 |
| P057 |
FANCD2-PALB2 |
2 |
| P060 |
SMA Carrier |
4 |
| P061 |
Lissencephaly |
1 |
| P062 |
LDLR |
2 |
| P064 |
Microdeletion Syndromes 1B |
1 |
| P070 |
Subtelomeres Mix 2B |
1 |
| P072 |
MSH6-MUTYH |
6 |
| P077 |
BRCA2 Confirmation |
1 |
| P081 |
NF1 mix 1 |
3 |
| P082 |
NF1 mix 2 |
3 |
| P083 |
CDH1 |
1 |
| P087 |
BRCA1 Confirmation |
3 |
| P090 |
BRCA2 |
1 |
| P091 |
CFTR |
2 |
| P101 |
STK11 |
2 |
| P106 |
X-linked ID |
2 |
| P113 |
FANCB |
1 |
| P118 |
WT1 |
1 |
| P122 |
NF1-area |
1 |
| P124 |
TSC1 |
3 |
| P136 |
Gitelman Syndrome |
1 |
| P137 |
SCN1A |
1 |
| P147 |
1p36 |
1 |
| P165 |
HSP mix-1 |
1 |
| P190 |
CHEK2 |
5 |
| P213 |
HSP mix-2 |
1 |
| P215 |
EXT |
2 |
| P225 |
PTEN |
1 |
| P229 |
OPA1 |
1 |
| P236 |
CFH Region |
1 |
| P240 |
BRIP1/CHEK1 |
2 |
| P241 |
MODY Mix 1 |
1 |
| P245 |
Microdeletion Syndromes-1A |
2 |
| P250 |
DiGeorge |
1 |
| P256 |
FLCN |
1 |
| P258 |
SMARCB1 |
1 |
| P260 |
PALB2-RAD50-RAD51C-RAD51D |
1 |
| P266 |
CLCNKB |
1 |
| P271 |
COL1A1 |
1 |
| P272 |
COL1A2 |
1 |
| P296 |
aHUS |
1 |
| P297 |
Microdeletion-2 |
1 |
| P306 |
SPG11 |
1 |
| P308 |
MET |
1 |
| P325 |
OCA2 |
1 |
| P337 |
TSC2 Confirmation |
1 |
| P341 |
PKHD1 mix 1 |
1 |
| P342 |
PKHD1 mix 2 |
1 |
| P343 |
Autism-1 |
1 |
| P351 |
PKD1 |
1 |
| P352 |
PKD1-PKD2 |
1 |
| P378 |
MUTYH |
1 |
| P387 |
NPHP1 |
1 |
| P417 |
BAP1 |
1 |
| P419 |
CDKN2A/2B-CDK4 |
1 |
| P444 |
COL4A4 |
1 |
| P457 |
DHCR7 |
1 |
| P472 |
SUFU |
1 |
| P489 |
BARD1 |
1 |
