ClinVar Miner

Variants from Counsyl

Location: United States — Primary collection method: clinical testing
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign other total
2019 8157 8227 2228 309 1 20939

Gene and significance breakdown #

Total genes and gene combinations: 326
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
BRCA2 140 101 433 189 64 0 927
ALMS1 17 117 403 151 0 0 688
BRCA1 118 53 211 139 53 0 574
USH2A 75 160 215 28 0 0 478
CFTR 111 121 182 20 0 0 434
SLC37A4 2 27 189 130 0 0 348
PKHD1 15 168 105 21 3 0 312
ATM 25 141 103 36 5 0 310
APC 8 20 208 68 5 0 309
VPS13B 5 210 59 20 0 0 294
MSH6 17 18 174 72 2 0 283
ATP7B 42 142 91 4 0 0 279
SACS 9 203 61 3 2 0 278
PCDH15 1 78 180 11 1 0 271
PAH 64 123 62 7 0 0 256
MYO7A 29 89 120 13 0 0 251
PALB2 30 42 109 55 3 0 239
SLC26A4 26 97 87 13 0 0 223
NEB 15 131 68 6 0 0 220
MSH2 19 6 136 52 0 0 213
GAA 21 124 52 7 2 0 206
BRIP1 8 33 103 34 11 0 189
LAMA2 19 77 65 20 0 0 181
DYSF 42 66 57 15 0 0 180
ACADVL 4 74 53 46 1 0 178
CAPN3 25 86 59 5 0 0 175
ABCC8 10 96 64 2 0 0 172
ATM, C11orf65 17 77 60 15 3 0 172
CHEK2 5 30 100 26 4 0 165
NPC1 14 97 49 5 0 0 165
MLH1 17 14 79 49 4 0 163
FANCA 23 80 51 3 0 0 157
HEXA 9 59 63 23 0 0 154
POLE 0 1 67 71 12 0 151
CDH1 4 8 91 41 2 0 146
RET 7 2 84 44 6 0 143
LAMA3 4 71 64 2 0 0 141
PMS2 10 10 85 19 13 0 137
NEB, RIF1 7 72 50 7 0 0 136
AGL 12 93 21 6 0 0 132
BLM 6 84 35 4 0 0 129
GJB2 29 54 45 1 0 0 129
MUTYH 13 19 67 29 0 0 128
GALC 3 76 44 4 0 0 127
RMRP 3 60 63 1 0 0 127
BTD 13 50 57 4 0 0 124
STK11 0 2 59 56 1 0 118
DHCR7 10 62 41 0 0 0 113
NPHS1 13 61 32 6 1 0 113
NBN 1 44 51 15 1 0 112
SMPD1 12 63 35 2 0 0 112
USH1C 5 29 65 13 0 0 112
GALT 10 56 40 3 1 0 110
COL4A4 4 48 39 15 0 0 106
ARSA 8 69 25 0 0 0 102
IDUA 25 38 35 3 0 0 101
ACADM 9 55 33 2 1 0 100
GLDC 10 39 50 1 0 0 100
TP53 5 10 47 35 3 0 100
POLD1 0 2 34 57 6 0 99
ALPL 6 53 35 3 0 0 97
F11 4 56 33 2 0 0 95
GLB1 10 46 35 3 0 0 94
MMUT 38 37 18 1 0 0 94
CBS 9 62 20 1 0 0 92
GCDH 7 52 29 4 0 0 92
COL4A3, MFF-DT 11 52 27 1 0 0 91
GNE 10 45 35 0 0 0 90
NAGLU 9 45 35 1 0 0 90
PEX1 4 66 19 1 0 0 90
SLC22A5 5 58 26 0 1 0 90
XPC 16 39 32 1 0 0 88
BBS10 8 62 16 0 0 0 86
CPS1 2 35 44 3 0 0 84
EVC 7 37 35 1 0 0 80
DPYD 1 53 20 5 0 0 79
LAMB3 8 53 16 2 0 0 79
MMACHC 21 25 31 1 0 0 78
PMM2 10 44 23 1 0 0 78
TGM1 15 36 26 0 0 0 77
RTEL1, RTEL1-TNFRSF6B 1 30 39 5 1 0 76
EVC2 10 44 20 1 0 0 75
CPT2 3 51 20 0 0 0 74
ELP1 1 43 24 6 0 0 74
MAN2B1 6 48 18 2 0 0 74
PCCB 6 37 25 6 0 0 74
ACADS 3 33 36 0 0 0 72
RAD51D, RAD51L3-RFFL 6 13 22 27 4 0 72
POMGNT1, TSPAN1 6 45 18 2 0 0 71
PYGM 7 40 23 1 0 0 71
ASS1 3 44 21 2 0 0 70
AIRE 11 38 17 3 0 0 69
TCIRG1 8 32 27 1 0 0 68
LRPPRC 1 35 25 6 0 0 67
SLC26A2 4 48 14 1 0 0 67
ASL 9 26 30 1 0 0 66
BBS2 9 30 24 3 0 0 66
FKRP 6 30 22 6 0 0 64
HSD17B4 0 40 19 5 0 0 64
ZFYVE26 2 39 23 0 0 0 64
BCKDHB 2 44 15 2 0 0 63
RAD51C 9 7 29 14 5 0 63
SGSH 9 29 24 0 1 0 63
AGXT 12 37 10 2 1 0 62
CYP27A1 10 23 28 1 0 0 62
TH 3 29 28 1 0 0 61
XPA 5 35 21 0 0 0 61
BARD1 2 3 35 14 6 0 60
BCHE 3 40 15 0 1 0 59
CTNS 9 35 13 2 0 0 59
FAH 7 39 12 1 0 0 59
GNPTAB 16 24 19 0 0 0 59
LAMC2 1 48 7 3 0 0 59
SDHA 1 5 44 8 1 0 59
HEXB 4 29 24 1 0 0 58
ASPA, SPATA22 4 37 16 0 0 0 57
ERCC6 6 30 18 3 0 0 57
ALDH3A2 5 45 5 1 0 0 56
AOPEP, FANCC 0 37 15 4 0 0 56
CDKN2A 4 3 23 20 6 0 56
TPP1 7 36 11 2 0 0 56
BBS12 3 24 28 0 0 0 55
SGCA 2 33 18 1 0 0 54
G6PC 6 31 12 4 0 0 53
GRHPR 3 36 12 2 0 0 53
PCCA 6 25 19 3 0 0 53
IDUA, SLC26A1 5 6 9 31 0 1 52
CFTR, LOC111674472 13 15 23 0 0 0 51
PEX6 6 25 18 2 0 0 51
HBB, LOC106099062, LOC107133510 30 19 1 0 0 0 50
MKS1 1 21 24 4 0 0 50
PPT1 3 38 9 0 0 0 50
PEX12 6 28 15 0 0 0 49
PTEN 3 3 20 22 1 0 49
BCS1L 1 26 20 0 0 0 47
DNAH5 0 4 22 13 8 0 47
GNPTG 3 17 27 0 0 0 47
IVD 1 33 12 1 0 0 47
MLC1 3 25 16 2 1 0 47
PEX7 3 29 14 1 0 0 47
SLC17A5 5 32 9 1 0 0 47
HGD 10 28 8 0 0 0 46
HGSNAT 8 18 18 0 0 0 44
SLC12A6 2 31 9 2 0 0 44
ALDOB 5 27 9 2 0 0 43
CNGB3 2 33 8 0 0 0 43
SGCD 1 6 29 6 1 0 43
BCKDHA 7 21 14 0 0 0 42
LOXHD1 0 3 19 18 2 0 42
ADA 4 21 16 0 0 0 41
AMT 3 20 15 2 0 0 40
CLN3 5 29 4 2 0 0 40
EYS 4 7 25 4 0 0 40
NPHS2 8 19 11 2 0 0 40
PTS 5 18 17 0 0 0 40
ALG6 2 18 17 2 0 0 39
CPT1A 0 31 7 1 0 0 39
CYP11B1, LOC106799833 5 19 15 0 0 0 39
RAD50 2 6 9 12 10 0 39
PEX10 4 18 15 1 0 0 38
BMPR1A 0 0 23 13 0 0 36
CLN6 1 15 20 0 0 0 36
CTSK 0 30 6 0 0 0 36
DBT 1 14 19 2 0 0 36
FANCA, ZNF276 5 15 15 1 0 0 36
GAREM2, HADHA 1 23 12 0 0 0 36
OPA3 1 6 29 0 0 0 36
HLCS 3 18 14 0 0 0 35
KCNJ11 0 10 25 0 0 0 35
AGA 2 27 3 2 0 0 34
BBS1, ZDHHC24 4 19 11 0 0 0 34
CLRN1 3 13 12 5 1 0 34
ERCC8 5 18 11 0 0 0 34
FKTN 3 19 12 0 0 0 34
GATAD1, PEX1 0 22 12 0 0 0 34
HADHA 0 25 9 0 0 0 34
MESP2 0 12 19 2 1 0 34
NR2E3 2 1 16 13 1 0 33
SMAD4 0 0 17 16 0 0 33
ARG1, MED23 1 12 19 0 0 0 32
HMGCL 6 15 11 0 0 0 32
MMAA 10 14 8 0 0 0 32
MPI 0 20 10 1 1 0 32
GALK1 2 11 17 1 0 0 31
PROP1 5 18 7 0 1 0 31
SGCB 1 19 10 1 0 0 31
HOGA1 3 12 15 0 0 0 30
LIPA 4 15 10 1 0 0 30
STAR 4 20 6 0 0 0 30
FANCC 3 21 4 1 0 0 29
MCOLN1 2 20 6 1 0 0 29
SERPINA1 4 17 8 0 0 0 29
CLN5, FBXL3 1 21 6 0 0 0 28
DLD 2 21 5 0 0 0 28
CLN8 1 19 5 1 1 0 27
MMAB 4 12 10 1 0 0 27
MRE11 1 2 6 9 9 0 27
LOC102723833, USH2A 2 12 9 3 0 0 26
VHL 1 0 21 4 0 0 26
CFTR, LOC111674475 13 2 9 1 0 0 25
AXDND1, NPHS2 3 12 9 0 0 0 24
BBS1 1 20 1 2 0 0 24
TTPA 2 14 7 1 0 0 24
PC 1 6 15 1 0 0 23
ERCC6, ERCC6-PGBD3 0 14 6 2 0 0 22
TAT 1 13 8 0 0 0 22
SGCG 1 17 2 1 0 0 21
TMEM216 1 10 9 1 0 0 21
MEN1 0 2 6 9 2 0 19
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 19 0 0 0 19
ACADVL, DLG4 0 3 15 0 0 0 18
ATP6V1B1 1 2 5 4 4 0 16
LOC107303340, VHL 0 0 10 6 0 0 16
CFTR, LOC111674477 0 10 4 1 0 0 15
CLN5 2 6 6 1 0 0 15
DNAI1 0 1 8 4 2 0 15
HBB, LOC107133510, LOC110006319 7 7 0 1 0 0 15
MEFV 6 4 3 1 1 0 15
MPL 2 0 6 5 2 0 15
PEX2 1 7 7 0 0 0 15
RPE65 2 0 2 9 2 0 15
SDHB 1 2 5 5 1 0 14
CYP11B1 2 6 5 0 0 0 13
EYS, PHF3 0 7 3 3 0 0 13
NPC2 2 7 4 0 0 0 13
CDKL5, RS1 4 8 0 0 0 0 12
CFTR, LOC111674463 1 0 10 1 0 0 12
GCDH, SYCE2 2 2 8 0 0 0 12
CDK4 1 0 5 3 1 0 10
HYLS1, PUS3 0 0 10 0 0 0 10
BRCA1, LOC111589215 0 0 5 3 1 0 9
GBE1 2 2 4 1 0 0 9
SAMD9 0 2 6 1 0 0 9
CYP21A2 7 1 0 0 0 0 8
CYP21A2, LOC106780800 8 0 0 0 0 0 8
ERCC6, ERCC6-PGBD3, PGBD3 1 1 5 1 0 0 8
GBA, LOC106627981 4 4 0 0 0 0 8
SDHC 0 0 5 3 0 0 8
ADAMTS2 1 4 2 0 0 0 7
CFTR, LOC113664106 3 3 1 0 0 0 7
DNAI2 1 1 2 2 1 0 7
FAM161A 4 0 2 0 1 0 7
FANCA, LOC112486223 1 6 0 0 0 0 7
POMGNT1 0 6 0 1 0 0 7
ADA, LOC107303343 1 3 2 0 0 0 6
AMT, NICN1 0 1 4 1 0 0 6
PHYH 0 2 3 1 0 0 6
SCO2, TYMP 0 2 2 1 1 0 6
DMD 2 2 1 0 0 0 5
G6PD 5 0 0 0 0 0 5
KLLN, PTEN 0 0 4 1 0 0 5
NTRK1 0 2 1 1 1 0 5
SUMF1 0 4 1 0 0 0 5
TRMU 0 2 2 0 1 0 5
VPS13A 0 0 3 2 0 0 5
CDK4, TSPAN31 0 0 3 0 1 0 4
CHPT1, GNPTAB 1 1 2 0 0 0 4
ERCC8, NDUFAF2 0 0 4 0 0 0 4
GALK1, ITGB4 0 0 4 0 0 0 4
KIRREL2, NPHS1 0 2 0 2 0 0 4
LOC105378311, PCDH15 0 3 1 0 0 0 4
MIR3936HG, SLC22A5 0 0 2 0 2 0 4
PEX10, PLCH2 1 3 0 0 0 0 4
TECPR2 0 1 2 0 1 0 4
CERKL 0 2 1 0 0 0 3
COL4A3 0 2 1 0 0 0 3
COL4A5 0 1 2 0 0 0 3
GFM2, HEXB 0 0 3 0 0 0 3
GLA, RPL36A-HNRNPH2 1 2 0 0 0 0 3
HPS3 0 1 0 1 1 0 3
MTTP 1 1 0 1 0 0 3
MUTYH, TOE1 0 0 1 1 1 0 3
NBN, OSGIN2 0 2 1 0 0 0 3
OAT 2 0 0 0 1 0 3
PFKM 1 0 1 1 0 0 3
RAD50, TH2LCRR 0 0 1 1 1 0 3
RAG2 0 1 1 1 0 0 3
RAPSN 2 0 1 0 0 0 3
SGSH, SLC26A11 0 2 1 0 0 0 3
VPS53 0 2 1 0 0 0 3
ABCC8, LOC110121471 0 0 1 1 0 0 2
ABCD1 1 1 0 0 0 0 2
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 2 0 0 0 2
ARG1 1 1 0 0 0 0 2
CHM 0 2 0 0 0 0 2
CYP11B1, LOC110673972 0 2 0 0 0 0 2
EPCAM 0 0 0 0 2 0 2
GBA 2 0 0 0 0 0 2
HBB, LOC106099062, LOC107133510, LOC110006319 1 1 0 0 0 0 2
INSRR, NTRK1 0 0 2 0 0 0 2
MMAB, MVK 0 1 1 0 0 0 2
PHGDH 0 0 2 0 0 0 2
TYMP 1 0 1 0 0 0 2
ASNS, CZ1P-ASNS 0 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 0 1
CLN8, LOC101927752 0 0 1 0 0 0 1
CTNS, TRPV1 0 0 0 0 1 0 1
CYBA 0 0 0 1 0 0 1
DHDDS 1 0 0 0 0 0 1
DNAH5, LOC107457585 0 0 1 0 0 0 1
F2 1 0 0 0 0 0 1
FNDC8, RAD51D, RAD51L3-RFFL 0 0 1 0 0 0 1
GALE 0 1 0 0 0 0 1
GJB6 0 1 0 0 0 0 1
GLB1, TMPPE 0 1 0 0 0 0 1
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBA1, HBA2, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBA2, LOC106804612 1 0 0 0 0 0 1
HFE 1 0 0 0 0 0 1
HFE, LOC108783645 1 0 0 0 0 0 1
IDS 1 0 0 0 0 0 1
IL2RG 1 0 0 0 0 0 1
LAMB3, MIR4260 0 1 0 0 0 0 1
LOC107882126, TGM1 0 1 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 1
MPZ, SDHC 0 0 0 0 1 0 1
NDUFS4 0 0 1 0 0 0 1
OTC 1 0 0 0 0 0 1
PTS, TEX12 0 0 1 0 0 0 1
RAD50, TH2-LCR, TH2LCRR 0 1 0 0 0 0 1
SMN1 1 0 0 0 0 0 1
TMEM43, XPC 0 0 0 0 1 0 1
VRK1 0 0 1 0 0 0 1
VSX2 0 0 1 0 0 0 1
ZMYND11 0 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 291
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Breast-ovarian cancer, familial 2 140 101 433 189 64 0 927
Alstrom syndrome 17 117 403 151 0 0 688
Breast-ovarian cancer, familial 1 118 53 216 142 54 0 583
Cystic fibrosis 142 151 229 23 0 0 545
Ataxia-telangiectasia syndrome 42 218 163 51 8 0 482
Familial cancer of breast 37 75 244 95 13 0 464
Usher syndrome, type 2A; Retinitis pigmentosa 39 50 153 223 31 0 0 457
Nemaline myopathy 2 22 203 118 13 0 0 356
Glucose-6-phosphate transport defect 2 27 189 130 0 0 348
Autosomal recessive polycystic kidney disease 15 168 105 21 3 0 312
Familial adenomatous polyposis 1 8 20 208 68 5 0 309
Cohen syndrome 5 210 59 20 0 0 294
Hereditary nonpolyposis colorectal cancer type 5 17 18 174 72 2 0 283
Junctional epidermolysis bullosa gravis of Herlitz 13 173 87 7 0 0 280
Wilson disease 42 142 91 4 0 0 279
Spastic ataxia Charlevoix-Saguenay type 9 203 61 3 2 0 278
Usher syndrome, type 1F 1 81 181 11 1 0 275
Phenylketonuria 64 123 62 7 0 0 256
Deafness, autosomal recessive 2; Usher syndrome, type 1 22 77 119 13 0 0 231
Pendred syndrome 26 97 87 13 0 0 223
Lynch syndrome I 19 6 137 52 0 0 214
Glycogen storage disease, type II 21 124 52 7 2 0 206
Alport syndrome, autosomal recessive 15 102 67 16 0 0 200
Fanconi anemia, complementation group A 29 101 66 4 0 0 200
Very long chain acyl-CoA dehydrogenase deficiency 4 77 68 46 1 0 196
Merosin deficient congenital muscular dystrophy 19 77 65 20 0 0 181
Limb-girdle muscular dystrophy, type 2B 42 66 57 15 0 0 180
Limb-girdle muscular dystrophy, type 2A 25 86 59 5 0 0 175
Hyperinsulinemic hypoglycemia, familial, 1 10 96 65 3 0 0 174
Niemann-Pick disease type C1 14 97 49 5 0 0 165
Lynch syndrome II 17 14 78 49 4 0 162
Ellis-van Creveld syndrome 17 81 55 2 0 0 155
Tay-Sachs disease 9 59 63 23 0 0 154
Hurler syndrome 30 44 44 34 0 1 153
Colorectal cancer, susceptibility to, 12 0 1 67 71 12 0 151
Hereditary diffuse gastric cancer 4 8 91 41 2 0 146
Non-ketotic hyperglycinemia 13 60 69 4 0 0 146
Multiple endocrine neoplasia, type 2a 7 2 84 45 6 0 144
Maple syrup urine disease 10 79 48 4 0 0 141
Hereditary nonpolyposis colorectal cancer type 4 10 10 85 19 13 0 137
Glycogen storage disease type III 12 93 21 6 0 0 132
MYH-associated polyposis 13 19 68 30 1 0 131
Bloom syndrome 6 84 35 4 0 0 129
Deafness, autosomal recessive 1A 29 54 45 1 0 0 129
Galactosylceramide beta-galactosidase deficiency 3 76 44 4 0 0 127
Metaphyseal chondrodysplasia, McKusick type 3 60 63 1 0 0 127
Propionyl-CoA carboxylase deficiency 12 62 44 9 0 0 127
Biotinidase deficiency 13 50 57 4 0 0 124
Peroxisome biogenesis disorder 1A (Zellweger) 4 87 31 1 0 0 123
Peutz-Jeghers syndrome 0 2 59 56 1 0 118
Finnish congenital nephrotic syndrome 13 63 32 8 1 0 117
Microcephaly, normal intelligence and immunodeficiency 1 46 52 15 1 0 115
Smith-Lemli-Opitz syndrome 10 62 41 0 0 0 113
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 10 56 40 3 1 0 110
Fanconi anemia, complementation group J; Neoplasm of ovary 7 26 68 4 0 0 105
Niemann-Pick disease, type A 6 62 35 2 0 0 105
Usher syndrome, type 1C; Deafness, autosomal recessive 18 2 26 64 13 0 0 105
Glutaric aciduria, type 1 9 54 37 4 0 0 104
Metachromatic leukodystrophy 8 69 25 0 0 0 102
Li-Fraumeni syndrome 1 5 10 47 35 3 0 100
Medium-chain acyl-coenzyme A dehydrogenase deficiency 9 55 33 2 1 0 100
Colorectal cancer 10 0 2 34 57 6 0 99
Dyskeratosis congenita, autosomal recessive, 5 1 30 60 5 1 0 97
Infantile hypophosphatasia 6 53 35 3 0 0 97
Hereditary factor XI deficiency disease 4 56 33 2 0 0 95
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 38 37 18 1 0 0 94
Renal carnitine transport defect 5 58 28 0 3 0 94
Homocystinuria due to CBS deficiency 9 62 20 1 0 0 92
GNE myopathy 10 45 35 0 0 0 90
Mucopolysaccharidosis, MPS-III-B 9 45 35 1 0 0 90
Xeroderma pigmentosum, group C 16 39 32 1 1 0 89
Bardet-Biedl syndrome 10 8 62 16 0 0 0 86
Fanconi anemia, complementation group C 3 58 19 5 0 0 85
Fanconi anemia, complementation group J 1 8 35 30 11 0 85
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 6 41 35 3 0 0 85
Neoplasm of ovary 1 8 35 30 11 0 85
Congenital hyperammonemia, type I 2 35 44 3 0 0 84
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 4 41 29 6 0 0 80
Dihydropyrimidine dehydrogenase deficiency 1 53 20 5 0 0 79
Autosomal recessive congenital ichthyosis 1 15 37 26 0 0 0 78
Congenital disorder of glycosylation, type Ia 10 44 23 1 0 0 78
Methylmalonic acidemia with homocystinuria 21 25 31 1 0 0 78
Muscle eye brain disease 3 51 18 3 0 0 75
Carnitine palmitoyltransferase II deficiency, infantile 3 51 20 0 0 0 74
Deficiency of alpha-mannosidase 6 48 18 2 0 0 74
Familial dysautonomia 1 43 24 6 0 0 74
Breast-ovarian cancer, familial 4 6 13 23 27 4 0 73
Deficiency of butyryl-CoA dehydrogenase 3 33 36 0 0 0 72
Glycogen storage disease, type V 7 40 23 1 0 0 71
Multiple endocrine neoplasia, type 2b 1 1 40 25 4 0 71
Citrullinemia type I 3 44 21 2 0 0 70
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 48 21 0 0 0 70
Juvenile polyposis syndrome 0 0 40 29 0 0 69
Polyglandular autoimmune syndrome, type 1 11 38 17 3 0 0 69
Osteopetrosis autosomal recessive 1 8 32 27 1 0 0 68
Leigh syndrome, French Canadian type 1 35 25 6 0 0 67
Multiple epiphyseal dysplasia 4 4 48 14 1 0 0 67
beta Thalassemia 38 27 1 1 0 0 67
Argininosuccinate lyase deficiency 9 26 30 1 0 0 66
Bardet-Biedl syndrome 2 9 30 24 3 0 0 66
Mucopolysaccharidosis, MPS-III-A 9 31 25 0 1 0 66
Bifunctional peroxisomal enzyme deficiency 0 40 19 5 0 0 64
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 6 30 22 6 0 0 64
Nephrotic syndrome, idiopathic, steroid-resistant 11 31 20 2 0 0 64
Spastic paraplegia 15 2 39 23 0 0 0 64
Cholestanol storage disease 10 23 28 1 0 0 62
Primary hyperoxaluria, type I 12 37 10 2 1 0 62
Sandhoff disease 4 29 27 1 0 0 61
Segawa syndrome, autosomal recessive 3 29 28 1 0 0 61
Xeroderma pigmentosum, type 1 5 35 21 0 0 0 61
Nephropathic cystinosis 9 35 13 2 1 0 60
Paragangliomas 5 1 5 45 8 1 0 60
Deficiency of butyrylcholine esterase 3 40 15 0 1 0 59
I cell disease; Pseudo-Hurler polydystrophy 15 23 21 0 0 0 59
Tyrosinemia type I 7 39 12 1 0 0 59
Spongy degeneration of central nervous system 4 37 16 0 0 0 57
Ceroid lipofuscinosis neuronal 2 7 36 11 2 0 0 56
Melanoma-pancreatic cancer syndrome 4 3 23 20 6 0 56
Sjögren-Larsson syndrome 5 45 5 1 0 0 56
Bardet-Biedl syndrome 12 3 24 28 0 0 0 55
Bardet-Biedl syndrome 1 5 35 12 2 0 0 54
Cowden syndrome 1 3 3 24 23 1 0 54
Deficiency of steroid 11-beta-monooxygenase 7 27 20 0 0 0 54
Limb-girdle muscular dystrophy, type 2D 2 33 18 1 0 0 54
Glycogen storage disease type 1A 6 31 12 4 0 0 53
Primary hyperoxaluria, type II 3 36 12 2 0 0 53
Retinitis pigmentosa 25 4 14 28 7 0 0 53
Ceroid lipofuscinosis neuronal 1 3 38 9 0 0 0 50
Ciliary dyskinesia, primary, 3 0 4 23 13 8 0 48
Isovaleryl-CoA dehydrogenase deficiency 1 33 12 1 0 0 47
Megalencephalic leukoencephalopathy with subcortical cysts 1 3 25 16 2 1 0 47
Mucolipidosis III Gamma 3 17 27 0 0 0 47
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 3 24 18 2 0 0 47
Rhizomelic chondrodysplasia punctata type 1 3 29 14 1 0 0 47
Salla disease 5 32 9 1 0 0 47
Severe combined immunodeficiency due to ADA deficiency 5 24 18 0 0 0 47
Alkaptonuria 10 28 8 0 0 0 46
Retinitis pigmentosa 39 26 19 1 0 0 0 46
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 18 23 4 0 0 45
Andermann syndrome 2 31 9 2 0 0 44
GRACILE syndrome 0 25 19 0 0 0 44
Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 3 26 15 0 0 0 44
Mucopolysaccharidosis, MPS-III-C 8 18 18 0 0 0 44
Peroxisome biogenesis disorder 1B 2 42 0 0 0 0 44
Achromatopsia 3 2 33 8 0 0 0 43
Ceroid lipofuscinosis neuronal 5 3 27 12 1 0 0 43
Dilated cardiomyopathy 1L; Limb-girdle muscular dystrophy, type 2F 1 6 29 6 1 0 43
Hereditary fructosuria 5 27 9 2 0 0 43
Nijmegen breakage syndrome-like disorder 2 7 10 13 11 0 43
Deafness, autosomal recessive 77 0 3 19 18 2 0 42
Von Hippel-Lindau syndrome 1 0 31 10 0 0 42
6-pyruvoyl-tetrahydropterin synthase deficiency 5 18 18 0 0 0 41
Juvenile neuronal ceroid lipofuscinosis 5 29 4 2 0 0 40
Carnitine palmitoyltransferase I deficiency 0 31 7 1 0 0 39
Congenital disorder of glycosylation type 1C 2 18 17 2 0 0 39
Cockayne syndrome type A 5 18 15 0 0 0 38
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2 19 15 1 0 0 37
3-Methylglutaconic aciduria type 3 1 6 29 0 0 0 36
Ceroid lipofuscinosis neuronal 6 1 15 20 0 0 0 36
Pyknodysostosis 0 30 6 0 0 0 36
Deficiency of galactokinase 2 11 21 1 0 0 35
Holocarboxylase synthetase deficiency 3 18 14 0 0 0 35
Arginase deficiency 2 13 19 0 0 0 34
Aspartylglucosaminuria 2 27 3 2 0 0 34
Fukuyama congenital muscular dystrophy 3 19 12 0 0 0 34
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 0 9 25 0 0 0 34
Spondylocostal dysostosis 2 0 12 19 2 1 0 34
Usher syndrome, type 3A 3 13 12 5 1 0 34
Breast-ovarian cancer, familial 3 3 2 15 9 4 0 33
Enhanced s-cone syndrome; Retinitis pigmentosa 37 2 1 16 13 1 0 33
Fanconi anemia, complementation group O 3 2 15 9 4 0 33
Congenital disorder of glycosylation type 1B 0 20 10 1 1 0 32
Deficiency of hydroxymethylglutaryl-CoA lyase 6 15 11 0 0 0 32
Methylmalonic aciduria cblA type 10 14 8 0 0 0 32
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 6 5 14 5 1 0 31
Limb-girdle muscular dystrophy, type 2E 1 19 10 1 0 0 31
Pituitary hormone deficiency, combined 2 5 18 7 0 1 0 31
Cholesterol monooxygenase (side-chain cleaving) deficiency 4 20 6 0 0 0 30
Lysosomal acid lipase deficiency 4 15 10 1 0 0 30
Primary hyperoxaluria, type III 3 12 15 0 0 0 30
Alpha-1-antitrypsin deficiency 4 17 8 0 0 0 29
Methylmalonic aciduria cblB type 4 13 11 1 0 0 29
Mucolipidosis type IV 2 20 6 1 0 0 29
Ceroid lipofuscinosis neuronal 8 1 19 6 1 1 0 28
Maple syrup urine disease, type 3 2 21 5 0 0 0 28
Ataxia-telangiectasia-like disorder 1 1 2 6 9 9 0 27
Achondrogenesis, type IB 2 23 0 0 0 0 25
Atelosteogenesis type 2 2 23 0 0 0 0 25
Deafness, autosomal dominant 3a 8 17 0 0 0 0 25
Diastrophic dysplasia 2 23 0 0 0 0 25
Ataxia with vitamin E deficiency 2 14 7 1 0 0 24
Pyruvate carboxylase deficiency 1 6 15 1 0 0 23
Tyrosinemia type 2 1 13 8 0 0 0 22
Severe autosomal recessive muscular dystrophy of childhood - North African type 1 17 2 1 0 0 21
Usher syndrome, type 2A 12 8 0 0 0 0 20
Deafness, autosomal recessive 2 6 12 1 0 0 0 19
Multiple endocrine neoplasia, type 1 0 2 6 9 2 0 19
Carnitine palmitoyltransferase II deficiency, lethal neonatal 0 18 0 0 0 0 18
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 0 18 0 0 0 0 18
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 15 1 0 0 0 0 16
Renal tubular acidosis with progressive nerve deafness 1 2 5 4 4 0 16
Congenital amegakaryocytic thrombocytopenia 2 0 6 5 2 0 15
Familial Mediterranean fever 6 4 3 1 1 0 15
Joubert syndrome 2; Meckel syndrome type 2 0 5 9 1 0 0 15
Kartagener syndrome 0 1 8 4 2 0 15
Leber congenital amaurosis 2; Retinitis pigmentosa 20 2 0 2 9 2 0 15
Cutaneous malignant melanoma 3 1 0 8 3 2 0 14
Paragangliomas 4 1 2 5 5 1 0 14
Niemann-Pick disease type C2 2 7 4 0 0 0 13
Juvenile retinoschisis 4 8 0 0 0 0 12
Niemann-Pick disease, type B 6 4 2 0 0 0 12
Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 0 5 7 0 0 0 12
Gaucher's disease, type 1 6 4 0 0 0 0 10
Hydrolethalus syndrome 1 0 0 10 0 0 0 10
Mucopolysaccharidosis, MPS-IV-B 4 6 0 0 0 0 10
Glycogen storage disease, type IV 2 2 4 1 0 0 9
Paragangliomas 3 0 0 5 3 1 0 9
Tumoral calcinosis, familial, normophosphatemic 0 2 6 1 0 0 9
Usher syndrome, type 1 2 6 1 0 0 0 9
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 1 2 3 1 1 0 8
Retinitis pigmentosa 76 3 4 1 0 0 0 8
Ciliary dyskinesia, primary, 9 1 1 2 2 1 0 7
DE SANCTIS-CACCHIONE SYNDROME 3 4 0 0 0 0 7
Deafness, autosomal recessive 18 3 3 1 0 0 0 7
Ehlers-Danlos syndrome dermatosparaxis type 1 4 2 0 0 0 7
Hereditary insensitivity to pain with anhidrosis 0 2 3 1 1 0 7
Retinitis pigmentosa 28 4 0 2 0 1 0 7
Joubert syndrome 2 1 5 0 0 0 0 6
Meckel syndrome type 2 1 5 0 0 0 0 6
Phytanic acid storage disease 0 2 3 1 0 0 6
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 5 0 0 0 0 0 5
Bardet-Biedl syndrome 0 5 0 0 0 0 5
Becker muscular dystrophy 2 2 1 0 0 0 5
Choreoacanthocytosis 0 0 3 2 0 0 5
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 0 4 1 0 0 0 5
Dilated cardiomyopathy 3B 2 2 1 0 0 0 5
Duchenne muscular dystrophy 2 2 1 0 0 0 5
Joubert syndrome 28 1 3 1 0 0 0 5
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 0 4 1 0 0 0 5
Liver failure acute infantile 0 2 2 0 1 0 5
Multiple sulfatase deficiency 0 4 1 0 0 0 5
Peroxisome biogenesis disorder 3A 3 2 0 0 0 0 5
Peroxisome biogenesis disorder 6B 3 2 0 0 0 0 5
Bardet-Biedl syndrome 13 0 3 1 0 0 0 4
Infantile Refsum's disease 3 1 0 0 0 0 4
Meckel syndrome type 1 0 3 1 0 0 0 4
Peroxisome biogenesis disorder 4B 3 1 0 0 0 0 4
Pseudo-Hurler polydystrophy 2 2 0 0 0 0 4
Spastic paraplegia 49, autosomal recessive 0 1 2 0 1 0 4
Usher syndrome, type 1C 1 2 1 0 0 0 4
alpha Thalassemia 4 0 0 0 0 0 4
Abetalipoproteinaemia 1 1 0 1 0 0 3
Alport syndrome 1, X-linked recessive 0 1 2 0 0 0 3
Combined cellular and humoral immune defects with granulomas; Histiocytic medullary reticulosis; Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive 0 1 1 1 0 0 3
Fabry disease 1 2 0 0 0 0 3
GM1 gangliosidosis type 2 3 0 0 0 0 0 3
Gangliosidosis GM1 type 3 3 0 0 0 0 0 3
Glycogen storage disease, type VII 1 0 1 1 0 0 3
Hermansky-Pudlak syndrome 3 0 1 0 1 1 0