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
1860 8014 8181 2228 309 1 20592

Gene and significance breakdown #

Total genes and gene combinations: 323
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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 16 114 403 151 0 0 684
BRCA1 118 53 211 139 53 0 574
USH2A 69 159 215 28 0 0 471
CFTR 96 117 182 20 0 0 415
SLC37A4 2 27 189 130 0 0 348
ATM 25 141 103 36 5 0 310
APC 8 20 208 68 5 0 309
PKHD1 13 164 105 21 3 0 306
VPS13B 5 200 59 20 0 0 284
MSH6 17 18 174 72 2 0 283
SACS 9 200 61 3 2 0 275
ATP7B 30 147 90 4 0 0 271
PCDH15 1 78 180 11 1 0 271
MYO7A 28 89 119 13 0 0 249
PAH 52 123 63 7 0 0 245
PALB2 30 42 109 55 3 0 239
SLC26A4 21 99 86 13 0 0 219
NEB 14 129 68 6 0 0 217
MSH2 19 6 136 52 0 0 213
GAA 17 124 51 7 2 0 201
BRIP1 8 33 103 34 11 0 189
ACADVL 4 74 53 46 1 0 178
ATM, C11orf65 17 77 60 15 3 0 172
LAMA2 16 72 64 20 0 0 172
CAPN3 21 85 59 5 0 0 170
DYSF 36 60 57 15 0 0 168
ABCC8 9 93 63 2 0 0 167
CHEK2 5 30 100 26 4 0 165
MLH1 17 14 79 49 4 0 163
NPC1 11 96 48 5 0 0 160
FANCA 23 80 49 3 0 0 155
POLE 0 1 67 71 12 0 151
HEXA 8 56 63 23 0 0 150
CDH1 4 8 91 41 2 0 146
RET 7 2 84 44 6 0 143
LAMA3 4 70 64 2 0 0 140
PMS2 10 10 85 19 13 0 137
NEB, RIF1 6 72 49 7 0 0 134
MUTYH 13 19 67 29 0 0 128
AGL 10 90 21 6 0 0 127
BLM 5 83 35 4 0 0 127
RMRP 3 60 63 1 0 0 127
GALC 2 73 45 4 0 0 124
GJB2 21 58 44 1 0 0 124
STK11 0 2 59 56 1 0 118
BTD 13 48 51 4 0 0 116
DHCR7 10 61 41 0 0 0 112
NBN 1 44 51 15 1 0 112
NPHS1 12 61 32 6 1 0 112
USH1C 5 28 64 13 0 0 110
GALT 10 54 41 3 1 0 109
SMPD1 12 60 33 2 0 0 107
COL4A4 3 48 37 15 0 0 103
GLDC 10 39 50 1 0 0 100
TP53 5 10 47 35 3 0 100
POLD1 0 2 34 57 6 0 99
IDUA 24 36 35 3 0 0 98
ACADM 7 53 34 2 1 0 97
ALPL 4 53 35 3 0 0 95
ARSA 8 62 25 0 0 0 95
F11 4 56 33 2 0 0 95
MMUT 38 36 18 1 0 0 93
GLB1 8 46 35 3 0 0 92
CBS 9 61 20 1 0 0 91
COL4A3, LOC654841 11 52 27 1 0 0 91
PEX1 4 66 19 1 0 0 90
GCDH 3 52 30 4 0 0 89
NAGLU 9 44 35 1 0 0 89
XPC 16 39 32 1 0 0 88
GNE 7 44 34 0 0 0 85
CPS1 2 35 44 3 0 0 84
BBS10 8 58 16 0 0 0 82
DPYD 1 53 20 5 0 0 79
EVC 7 36 35 1 0 0 79
SLC22A5 4 53 21 0 1 0 79
PMM2 8 46 22 1 0 0 77
LAMB3 6 52 16 2 0 0 76
MMACHC 20 24 31 1 0 0 76
TGM1 14 36 26 0 0 0 76
EVC2 10 44 20 1 0 0 75
RTEL1, RTEL1-TNFRSF6B 1 30 38 5 1 0 75
MAN2B1 6 48 18 2 0 0 74
ELP1 1 41 24 6 0 0 72
RAD51D, RAD51L3-RFFL 6 13 22 27 4 0 72
CPT2 3 48 20 0 0 0 71
PYGM 7 40 23 1 0 0 71
PCCB 4 35 25 6 0 0 70
AIRE 10 38 17 3 0 0 68
ASS1 2 44 20 2 0 0 68
TCIRG1 8 32 27 1 0 0 68
LRPPRC 1 35 25 6 0 0 67
SLC26A2 4 48 14 1 0 0 67
ACADS 1 32 33 0 0 0 66
ASL 9 26 30 1 0 0 66
POMGNT1, TSPAN1 5 42 17 2 0 0 66
BBS2 9 29 24 3 0 0 65
FKRP 5 30 22 6 0 0 63
RAD51C 9 7 29 14 5 0 63
ZFYVE26 2 38 23 0 0 0 63
AGXT 12 37 10 2 1 0 62
HSD17B4 0 38 19 5 0 0 62
BCKDHB 2 42 15 2 0 0 61
TH 3 29 28 1 0 0 61
XPA 5 35 21 0 0 0 61
BARD1 2 3 35 14 6 0 60
CYP27A1 8 23 28 1 0 0 60
BCHE 3 40 15 0 1 0 59
LAMC2 1 48 7 3 0 0 59
SDHA 1 5 44 8 1 0 59
CTNS 9 34 13 2 0 0 58
GNPTAB 15 24 19 0 0 0 58
SGSH 6 28 23 0 1 0 58
ERCC6 6 30 18 3 0 0 57
FAH 7 37 12 1 0 0 57
HEXB 3 30 23 1 0 0 57
ALDH3A2 5 45 5 1 0 0 56
ASPA, SPATA22 3 37 16 0 0 0 56
CDKN2A 4 3 23 20 6 0 56
BBS12 2 24 28 0 0 0 54
TPP1 7 35 10 2 0 0 54
EYS 4 14 28 7 0 0 53
GRHPR 3 35 12 2 0 0 52
IDUA, SLC26A1 5 6 9 31 0 1 52
PCCA 5 25 19 3 0 0 52
SGCA 1 33 17 1 0 0 52
AOPEP, FANCC 0 33 14 4 0 0 51
PEX6 6 25 18 2 0 0 51
G6PC 5 29 12 4 0 0 50
PEX12 6 28 15 0 0 0 49
PTEN 3 3 20 22 1 0 49
MKS1 1 20 23 4 0 0 48
PPT1 3 36 9 0 0 0 48
BCS1L 1 26 20 0 0 0 47
CFTR, LOC111674472 10 14 23 0 0 0 47
DNAH5 0 4 22 13 8 0 47
GNPTG 3 17 27 0 0 0 47
MLC1 3 25 16 2 1 0 47
PEX7 3 29 14 1 0 0 47
HGD 10 28 8 0 0 0 46
SLC17A5 4 32 9 1 0 0 46
HBB, LOC106099062, LOC107133510 26 19 0 0 0 0 45
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
LOXHD1 0 3 19 18 2 0 42
ADA 4 21 16 0 0 0 41
BCKDHA 6 21 14 0 0 0 41
IVD 1 28 11 1 0 0 41
NPHS2 7 20 11 2 0 0 40
PTS 5 18 17 0 0 0 40
ALG6 2 18 17 2 0 0 39
AMT 3 19 15 2 0 0 39
CYP11B1, LOC106799833 5 19 15 0 0 0 39
RAD50 2 6 9 12 10 0 39
CLN3 4 28 4 2 0 0 38
CPT1A 0 31 6 1 0 0 38
PEX10 4 18 15 1 0 0 38
BMPR1A 0 0 23 13 0 0 36
CTSK 0 30 6 0 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
CLN6 1 14 20 0 0 0 35
DBT 1 14 18 2 0 0 35
HLCS 3 18 14 0 0 0 35
KCNJ11 0 10 25 0 0 0 35
CLRN1 3 13 12 5 1 0 34
MESP2 0 12 19 2 1 0 34
BBS1, ZDHHC24 4 18 11 0 0 0 33
ERCC8 5 17 11 0 0 0 33
FKTN 2 19 12 0 0 0 33
GATAD1, PEX1 0 21 12 0 0 0 33
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
AGA 2 24 3 2 0 0 31
GALK1 2 11 17 1 0 0 31
HADHA 0 22 9 0 0 0 31
MPI 0 20 9 1 1 0 31
PROP1 5 18 7 0 1 0 31
LIPA 4 15 10 1 0 0 30
SGCB 1 18 10 1 0 0 30
STAR 4 20 6 0 0 0 30
HOGA1 3 12 14 0 0 0 29
SERPINA1 4 17 8 0 0 0 29
MCOLN1 2 19 6 1 0 0 28
CLN5, FBXL3 0 21 6 0 0 0 27
MRE11 1 2 6 9 9 0 27
CLN8 1 19 4 1 1 0 26
DLD 2 19 5 0 0 0 26
FANCC 3 18 4 1 0 0 26
LOC102723833, USH2A 2 12 9 3 0 0 26
MMAB 4 11 10 1 0 0 26
VHL 1 0 21 4 0 0 26
CFTR, LOC111674475 13 2 9 1 0 0 25
TTPA 2 14 7 1 0 0 24
AXDND1, NPHS2 1 13 9 0 0 0 23
BBS1 1 19 1 2 0 0 23
ERCC6, ERCC6-PGBD3 0 14 6 2 0 0 22
PC 1 5 15 1 0 0 22
TAT 1 13 7 0 0 0 21
TMEM216 1 10 9 1 0 0 21
SGCG 0 17 2 1 0 0 20
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
DNAI1 0 1 8 4 2 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
CFTR, LOC111674477 0 10 3 1 0 0 14
CLN5 2 5 6 1 0 0 14
SDHB 1 2 5 5 1 0 14
CYP11B1 2 6 5 0 0 0 13
NPC2 2 7 4 0 0 0 13
CFTR, LOC111674463 1 0 10 1 0 0 12
CDKL5, RS1 3 8 0 0 0 0 11
GCDH, SYCE2 1 2 8 0 0 0 11
HBB, LOC107133510, LOC110006319 5 5 0 1 0 0 11
CDK4 1 0 5 3 1 0 10
HYLS1, PUS3 0 0 10 0 0 0 10
MEFV 4 3 1 1 1 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
FANCA, LOC112486223 1 6 1 0 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
DNAI2 1 1 2 2 1 0 7
FAM161A 4 0 2 0 1 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
CFTR, LOC113664106 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
BTD, HACL1 0 0 4 0 0 0 4
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
GFM2, HEXB 0 0 3 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
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
ABCD1 1 0 0 0 0 0 1
ASNS, CZ1P-ASNS 0 1 0 0 0 0 1
CAPN3, POMT1 0 1 0 0 0 0 1
CAPN3, SGCB 1 0 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
GLA, RPL36A-HNRNPH2 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
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
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: 274
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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 16 114 403 151 0 0 684
Breast-ovarian cancer, familial 1 118 53 216 142 54 0 583
Cystic fibrosis 123 145 228 23 0 0 519
Usher syndrome, type 2A; Retinitis pigmentosa 39 66 164 224 31 0 0 485
Ataxia-telangiectasia syndrome 42 218 163 51 8 0 482
Familial cancer of breast 37 75 244 95 13 0 464
Nemaline myopathy 2 20 201 117 13 0 0 351
Glucose-6-phosphate transport defect 2 27 189 130 0 0 348
Familial adenomatous polyposis 1 8 20 208 68 5 0 309
Autosomal recessive polycystic kidney disease 13 164 105 21 3 0 306
Cohen syndrome 5 200 59 20 0 0 284
Hereditary nonpolyposis colorectal cancer type 5 17 18 174 72 2 0 283
Junctional epidermolysis bullosa gravis of Herlitz 11 171 87 7 0 0 276
Spastic ataxia Charlevoix-Saguenay type 9 200 61 3 2 0 275
Usher syndrome, type 1F 1 81 181 11 1 0 275
Wilson disease 30 147 90 4 0 0 271
Phenylketonuria 52 123 63 7 0 0 245
Deafness, autosomal recessive 2; Usher syndrome, type 1 28 83 119 13 0 0 243
Pendred syndrome 21 99 86 13 0 0 219
Lynch syndrome I 19 6 137 52 0 0 214
Glycogen storage disease, type II 17 124 51 7 2 0 201
Fanconi anemia, complementation group A 29 101 65 4 0 0 199
Alport syndrome, autosomal recessive 14 102 65 16 0 0 197
Very long chain acyl-CoA dehydrogenase deficiency 4 77 68 46 1 0 196
Limb-girdle muscular dystrophy, type 2A 22 86 59 5 0 0 172
Merosin deficient congenital muscular dystrophy 16 72 64 20 0 0 172
Persistent hyperinsulinemic hypoglycemia of infancy 9 93 64 3 0 0 169
Limb-girdle muscular dystrophy, type 2B 36 60 57 15 0 0 168
Lynch syndrome II 17 14 78 49 4 0 162
Niemann-Pick disease type C1 11 96 48 5 0 0 160
Chondroectodermal dysplasia 17 80 55 2 0 0 154
Colorectal cancer, susceptibility to, 12 0 1 67 71 12 0 151
Dysostosis multiplex 29 42 44 34 0 1 150
Tay-Sachs disease 8 56 63 23 0 0 150
Hereditary diffuse gastric cancer 4 8 91 41 2 0 146
Non-ketotic hyperglycinemia 13 59 69 4 0 0 145
Multiple endocrine neoplasia, type 2a 7 2 84 45 6 0 144
Hereditary nonpolyposis colorectal cancer type 4 10 10 85 19 13 0 137
Maple syrup urine disease 9 77 47 4 0 0 137
MYH-associated polyposis 13 19 68 30 1 0 131
Bloom syndrome 5 83 35 4 0 0 127
Glycogen storage disease type III 10 90 21 6 0 0 127
Metaphyseal chondrodysplasia, McKusick type 3 60 63 1 0 0 127
Deafness, autosomal recessive 1A 21 58 44 1 0 0 124
Galactosylceramide beta-galactosidase deficiency 2 73 45 4 0 0 124
Peroxisome biogenesis disorder 1A (Zellweger) 4 87 31 1 0 0 123
Propionyl-CoA carboxylase deficiency 9 60 44 9 0 0 122
Biotinidase deficiency 13 48 55 4 0 0 120
Peutz-Jeghers syndrome 0 2 59 56 1 0 118
Finnish congenital nephrotic syndrome 12 63 32 8 1 0 116
Microcephaly, normal intelligence and immunodeficiency 1 46 52 15 1 0 115
Smith-Lemli-Opitz syndrome 10 61 41 0 0 0 112
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 10 54 41 3 1 0 109
Usher syndrome, type 1C; Deafness, autosomal recessive 18 4 27 64 13 0 0 108
Niemann-Pick disease, type A 12 60 33 2 0 0 107
Fanconi anemia, complementation group J; Neoplasm of ovary 7 26 68 4 0 0 105
Glutaric aciduria, type 1 4 54 38 4 0 0 100
Li-Fraumeni syndrome 1 5 10 47 35 3 0 100
Colorectal cancer 10 0 2 34 57 6 0 99
Medium-chain acyl-coenzyme A dehydrogenase deficiency 7 53 34 2 1 0 97
Dyskeratosis congenita, autosomal recessive, 5 1 30 59 5 1 0 96
Hereditary factor XI deficiency disease 4 56 33 2 0 0 95
Infantile hypophosphatasia 4 53 35 3 0 0 95
Metachromatic leukodystrophy 8 62 25 0 0 0 95
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 38 36 18 1 0 0 93
GM1 gangliosidosis type 2; Gangliosidosis GM1 type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 7 47 35 3 0 0 92
Homocystinuria due to CBS deficiency 9 61 20 1 0 0 91
Mucopolysaccharidosis, MPS-III-B 9 44 35 1 0 0 89
Xeroderma pigmentosum, group C 16 39 32 1 1 0 89
DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 7 45 29 6 0 0 87
Fanconi anemia, complementation group J 1 8 35 30 11 0 85
GNE myopathy 7 44 34 0 0 0 85
Neoplasm of ovary 1 8 35 30 11 0 85
Congenital hyperammonemia, type I 2 35 44 3 0 0 84
Renal carnitine transport defect 4 53 23 0 3 0 83
Bardet-Biedl syndrome 10 8 58 16 0 0 0 82
Dihydropyrimidine dehydrogenase deficiency 1 53 20 5 0 0 79
Autosomal recessive congenital ichthyosis 1 14 37 26 0 0 0 77
Carbohydrate-deficient glycoprotein syndrome type I 8 46 22 1 0 0 77
Fanconi anemia, complementation group C 3 51 18 5 0 0 77
Methylmalonic acidemia with homocystinuria 20 24 31 1 0 0 76
Deficiency of alpha-mannosidase 6 48 18 2 0 0 74
Breast-ovarian cancer, familial 4 6 13 23 27 4 0 73
Muscle eye brain disease 5 48 17 3 0 0 73
Familial dysautonomia 1 41 24 6 0 0 72
Carnitine palmitoyltransferase II deficiency, infantile 3 48 20 0 0 0 71
Glycogen storage disease, type V 7 40 23 1 0 0 71
Multiple endocrine neoplasia, type 2b 1 1 40 25 4 0 71
Juvenile polyposis syndrome 0 0 40 29 0 0 69
Citrullinemia type I 2 44 20 2 0 0 68
Osteopetrosis autosomal recessive 1 8 32 27 1 0 0 68
Polyglandular autoimmune syndrome, type 1 10 38 17 3 0 0 68
Leigh syndrome, French Canadian type 1 35 25 6 0 0 67
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 45 21 0 0 0 67
Multiple epiphyseal dysplasia 4 4 48 14 1 0 0 67
Argininosuccinate lyase deficiency 9 26 30 1 0 0 66
Deficiency of butyryl-CoA dehydrogenase 1 32 33 0 0 0 66
Bardet-Biedl syndrome 2 9 29 24 3 0 0 65
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 5 30 22 6 0 0 63
Nephrotic syndrome, idiopathic, steroid-resistant 8 33 20 2 0 0 63
Spastic paraplegia 15 2 38 23 0 0 0 63
Bifunctional peroxisomal enzyme deficiency 0 38 19 5 0 0 62
I cell disease; Pseudo-Hurler polydystrophy 16 25 21 0 0 0 62
Primary hyperoxaluria, type I 12 37 10 2 1 0 62
Mucopolysaccharidosis, MPS-III-A 6 30 24 0 1 0 61
Segawa syndrome, autosomal recessive 3 29 28 1 0 0 61
Xeroderma pigmentosum, type 1 5 35 21 0 0 0 61
Cholestanol storage disease 8 23 28 1 0 0 60
Paragangliomas 5 1 5 45 8 1 0 60
Sandhoff disease 3 30 26 1 0 0 60
Deficiency of butyrylcholine esterase 3 40 15 0 1 0 59
Nephropathic cystinosis 9 34 13 2 1 0 59
beta Thalassemia 32 25 0 1 0 0 58
Tyrosinemia type I 7 37 12 1 0 0 57
Melanoma-pancreatic cancer syndrome 4 3 23 20 6 0 56
Sjögren-Larsson syndrome 5 45 5 1 0 0 56
Spongy degeneration of central nervous system 3 37 16 0 0 0 56
Bardet-Biedl syndrome 12 2 24 28 0 0 0 54
Ceroid lipofuscinosis neuronal 2 7 35 10 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
Retinitis pigmentosa 25 4 14 28 7 0 0 53
Limb-girdle muscular dystrophy, type 2D 1 33 17 1 0 0 52
Primary hyperoxaluria, type II 3 35 12 2 0 0 52
Bardet-Biedl syndrome 1 5 32 12 2 0 0 51
Glycogen storage disease type 1A 5 29 12 4 0 0 50
Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 5 25 18 2 0 0 50
Ceroid lipofuscinosis neuronal 1 3 36 9 0 0 0 48
Ciliary dyskinesia, primary, 3 0 4 23 13 8 0 48
GRACILE syndrome 1 26 20 0 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
Rhizomelic chondrodysplasia punctata type 1 3 29 14 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
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 1 18 23 4 0 0 46
Salla disease 4 32 9 1 0 0 46
Infantile Refsum's disease; Peroxisome biogenesis disorder 3A 3 27 15 0 0 0 45
Andermann syndrome 2 31 9 2 0 0 44
Mucopolysaccharidosis, MPS-III-C 8 18 18 0 0 0 44
Achromatopsia 3 2 33 8 0 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
Peroxisome biogenesis disorder 1B 2 41 0 0 0 0 43
Deafness, autosomal recessive 77 0 3 19 18 2 0 42
Von Hippel-Lindau syndrome 1 0 31 10 0 0 42
Ceroid lipofuscinosis neuronal 5 2 26 12 1 0 0 41
Isovaleryl-CoA dehydrogenase deficiency 1 28 11 1 0 0 41
6-pyruvoyl-tetrahydropterin synthase deficiency 5 18 17 0 0 0 40
Congenital disorder of glycosylation type 1C 2 18 17 2 0 0 39
Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 3 20 15 1 0 0 39
Carnitine palmitoyltransferase I deficiency 0 31 6 1 0 0 38
Juvenile neuronal ceroid lipofuscinosis 4 28 4 2 0 0 38
Cockayne syndrome type A 5 17 15 0 0 0 37
3-Methylglutaconic aciduria type 3 1 6 29 0 0 0 36
Pyknodysostosis 0 30 6 0 0 0 36
Ceroid lipofuscinosis neuronal 6 1 14 20 0 0 0 35
Deficiency of galactokinase 2 11 21 1 0 0 35
Holocarboxylase synthetase deficiency 3 18 14 0 0 0 35
Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 0 10 25 0 0 0 35
Arginase deficiency 2 13 19 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
Fukuyama congenital muscular dystrophy 2 19 12 0 0 0 33
Deficiency of hydroxymethylglutaryl-CoA lyase 6 15 11 0 0 0 32
Methylmalonic aciduria cblA type 10 14 8 0 0 0 32
Aspartylglucosaminuria 2 24 3 2 0 0 31
Breast-ovarian cancer, familial 3; Fanconi anemia, complementation group O 6 5 14 5 1 0 31
Congenital disorder of glycosylation type 1B 0 20 9 1 1 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
Limb-girdle muscular dystrophy, type 2E 1 18 10 1 0 0 30
Lysosomal acid lipase deficiency 4 15 10 1 0 0 30
Alpha-1-antitrypsin deficiency 4 17 8 0 0 0 29
Primary hyperoxaluria, type III 3 12 14 0 0 0 29
Methylmalonic aciduria cblB type 4 12 11 1 0 0 28
Mucolipidosis type IV 2 19 6 1 0 0 28
Ataxia-telangiectasia-like disorder 1 1 2 6 9 9 0 27
Ceroid lipofuscinosis neuronal 8 1 19 5 1 1 0 27
Maple syrup urine disease, type 3 2 19 5 0 0 0 26
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 5 15 1 0 0 22
Tyrosinemia type 2 1 13 7 0 0 0 21
Severe autosomal recessive muscular dystrophy of childhood - North African type 0 17 2 1 0 0 20
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
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
Peroxisome biogenesis disorder 5a (zellweger); Peroxisome biogenesis disorder 5B 0 5 7 0 0 0 12
Retinitis pigmentosa 39 5 7 0 0 0 0 12
Usher syndrome, type 2A 5 7 0 0 0 0 12
Juvenile retinoschisis 3 8 0 0 0 0 11
Familial Mediterranean fever 4 3 1 1 1 0 10
Gaucher's disease, type 1 6 4 0 0 0 0 10
Hydrolethalus syndrome 1 0 0 10 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
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 1 2 3 1 1 0 8
Ciliary dyskinesia, primary, 9 1 1 2 2 1 0 7
Ehlers-Danlos syndrome, type vii, autosomal recessive 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
Deafness, autosomal recessive 2 0 6 0 0 0 0 6
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
Usher syndrome, type 1 0 6 0 0 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
Choreoacanthocytosis 0 0 3 2 0 0 5
Liver failure acute infantile 0 2 2 0 1 0 5
Multiple sulfatase deficiency 0 4 1 0 0 0 5
Infantile Refsum's disease 3 1 0 0 0 0 4
Peroxisome biogenesis disorder 3A 3 1 0 0 0 0 4
Spastic paraplegia 49, autosomal recessive 0 1 2 0 1 0 4
alpha Thalassemia 4 0 0 0 0 0 4
Abetalipoproteinaemia 1 1 0 1 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
Glycogen storage disease, type VII 1 0 1 1 0 0 3
Hermansky-Pudlak syndrome 3 0 1 0 1 1 0 3
Ornithine aminotransferase deficiency 2 0 0 0 1 0 3
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 2 0 1 0 0 0 3
Peroxisome biogenesis disorder 5B 1 2 0 0 0 0 3
Peroxisome biogenesis disorder 5a (zellweger) 1 2 0 0 0 0 3
Peroxisome biogenesis disorder 6A 2 1 0 0 0 0 3
Peroxisome biogenesis disorder 6B 2 1 0 0 0 0 3
Pontocerebellar hypoplasia, type 2e 0 2 1 0 0 0 3
Retinitis pigmentosa 26 0 2 1 0 0 0 3
Bardet-Biedl syndrome 13 0 2 0 0 0 0 2
Choroideremia 0 2 0 0 0 0 2
Deafness, autosomal recessive 18 1 1 0 0 0 0 2
Hemochromatosis type 1 2 0 0 0 0 0 2
Hereditary nonpolyposis colorectal cancer type 8 0 0 0 0 2 0 2
Joubert syndrome 28 0 2 0 0 0 0 2
Meckel syndrome type 1 0 2 0 0 0 0 2
Phosphoglycerate dehydrogenase deficiency; Neu-Laxova syndrome 1 0 0 2 0 0 0 2
Usher syndrome, type 1C 1 1 0 0 0 0 2
Adrenoleukodystrophy 1 0 0 0 0 0 1
Asparagine synthetase deficiency 0 1 0 0 0 0 1
Fabry disease 0 1 0 0 0 0 1
GM1 gangliosidosis type 2 1 0 0 0 0 0 1
Gangliosidosis GM1 type 3 1 0 0 0 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 0 0 0 1 0 0 1
Hidrotic ectodermal dysplasia syndrome 0 1 0 0 0 0 1
Infantile GM1 gangliosidosis 1 0 0 0 0 0 1
Microphthalmia, isolated, with coloboma 3 0 0 1 0 0 0 1
Mitochondrial complex I deficiency; Leigh syndrome 0 0 1 0 0 0 1
Mucopolysaccharidosis, MPS-IV-B 1 0 0 0 0 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 0 0 0 1
Peroxisome biogenesis disorder 4B 1 0 0 0 0 0 1
Peroxisome biogenesis disorder 4a (zellweger) 1 0 0 0 0 0 1
Pontocerebellar hypoplasia type 1A 0 0 1 0 0 0 1
Retinitis pigmentosa 59 1 0 0 0 0 0