ClinVar Miner

Variants from Natera, Inc.

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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 total
7841 14885 36280 6160 3905 69068

Gene and significance breakdown #

Total genes and gene combinations: 461
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DMD 88 80 1213 493 71 1945
PKHD1 144 619 794 153 98 1808
NEB 38 202 1224 136 88 1688
USH2A 238 265 879 111 88 1581
CFTR 419 318 540 61 21 1358
DNAH5 84 191 697 69 74 1115
ATM 109 77 840 36 33 1095
VPS13B 41 147 685 97 70 1040
ALMS1 79 130 655 98 61 1023
CDH23 30 88 687 69 83 957
EYS 90 158 587 61 45 941
MYO7A 97 122 555 43 49 866
DYSF 109 97 483 92 47 828
BLM 37 81 582 101 24 825
COL7A1 133 152 377 97 58 817
ELP1 1 220 487 80 29 817
SACS 29 140 484 82 31 766
CEP290 111 149 429 33 22 744
FANCA 84 74 434 42 35 669
GAA 118 98 333 47 20 616
ATP7B 160 142 227 39 23 591
PCDH15 18 50 400 44 37 549
ATM, C11orf65 62 67 393 12 7 541
AGL 56 72 378 13 18 537
LOXHD1 15 117 317 49 36 534
RTEL1, RTEL1-TNFRSF6B 4 49 353 83 29 518
VPS13A 30 115 253 62 58 518
COL4A3, MFF-DT 58 254 140 37 28 517
COL4A4 26 236 151 35 49 497
NEB, RIF1 30 70 297 16 16 429
RPGRIP1L 20 98 269 16 15 418
GBA1, LOC106627981 93 222 93 4 5 417
ABCC8 51 90 227 22 26 416
GLDC 45 69 226 31 30 401
LDLR 99 86 136 46 14 381
CAPN3 89 68 185 18 15 375
NPC1 68 101 155 23 26 373
DHCR7 38 146 137 31 20 372
NBN 8 63 274 13 10 368
ADAMTS2 1 23 229 67 42 362
CIITA 2 25 245 54 30 356
ACADM 60 157 103 16 17 353
HEXA 64 133 129 9 12 347
CRB1 49 72 187 30 8 346
SLC12A3 113 83 93 22 26 337
SLC26A4 93 85 115 18 16 327
PAH 182 80 48 4 10 324
TECPR2 5 24 186 60 26 301
NTRK1 27 36 203 21 13 300
NPHS1 47 70 127 26 29 299
EVC 28 60 143 37 30 298
IDUA 64 62 115 28 27 296
CPS1 19 80 147 21 27 294
PYGM 36 73 146 16 16 287
GNPTAB 47 62 132 21 17 279
GALT 53 121 86 8 8 276
ACADVL 46 89 116 13 9 273
PEX1 34 64 128 31 15 272
ATRX 3 11 187 57 13 271
PEX6 15 62 149 15 19 260
LRPPRC 2 53 159 35 10 259
AOPEP, FANCC 8 32 169 42 7 258
RMRP 18 109 119 5 7 258
AIRE 28 37 147 23 21 256
SMPD1 49 72 78 31 20 250
TGM1 52 37 111 26 23 249
TPP1 36 30 163 5 15 249
CNGB3 39 34 127 25 23 248
TCIRG1 30 50 137 18 13 248
CBS 43 56 120 20 8 247
ACSF3 4 67 142 17 16 246
SLC22A5 38 54 137 10 5 242
MAN2B1 24 55 114 19 25 237
GALC 37 68 98 12 17 232
MMUT 86 52 73 7 13 231
SLC4A11 15 61 77 42 36 231
TH 12 40 127 34 18 231
ABCB11 42 71 81 20 16 230
PCCA 20 66 117 9 12 224
SMARCAL1 23 35 118 28 17 221
FKRP 16 40 146 10 8 220
ALPL 60 73 58 13 12 216
CPT2 17 49 131 11 8 216
COL4A5 15 49 79 55 16 214
RPE65 46 69 80 9 9 213
ARSA 68 55 57 16 16 212
ASS1 36 62 77 21 14 210
BBS2 31 45 111 11 11 209
DCLRE1C 10 34 133 21 10 208
FH 3 31 159 9 4 206
DNAI1 8 45 129 12 11 205
USH1C 18 24 135 7 21 205
GNE 37 58 99 4 4 202
F11 41 70 61 18 11 201
ETFDH 31 72 90 5 1 199
LIFR 7 46 101 23 17 194
SLC39A4 6 48 85 30 23 192
NR2E3 21 32 106 17 14 190
SGSH 32 43 78 24 13 190
HBA2, LOC106804612 39 100 44 2 4 189
PCCB 37 53 81 14 4 189
BBS10 26 47 90 18 7 188
MTTP 12 27 110 14 25 188
POMGNT1, TSPAN1 19 37 105 19 8 188
RARS2 10 88 63 15 11 187
ATP7A 5 4 130 37 10 186
GBE1 19 55 85 13 14 186
MCCC1 19 40 114 7 6 186
GJB2 75 49 43 10 8 185
CYP27A1 44 41 68 25 6 184
CYP11B2, LOC106799834 14 45 86 21 16 182
MCCC2 15 61 98 4 4 182
DNAI2 5 33 106 21 16 181
FAM161A 17 32 107 14 10 180
NAGLU 32 49 69 17 12 179
BBS12 9 40 90 17 21 177
LCA5 13 27 111 19 7 177
TFR2 6 40 84 29 18 177
MKS1 13 28 118 9 6 174
RAPSN 15 32 110 8 9 174
SLC12A6 4 23 127 11 9 174
CERKL 20 37 91 15 7 170
FKTN 10 31 111 8 9 169
HGSNAT 21 36 93 11 8 169
ASPA, SPATA22 24 81 53 8 2 168
MFSD8 15 27 111 5 9 167
GFM1 12 59 70 13 12 166
HPS1 18 26 82 18 21 165
MEFV 5 4 115 25 16 165
CPT1A 4 31 102 15 12 164
FANCG 18 36 91 12 7 164
HLCS 5 49 80 16 14 164
HSD17B4 6 57 79 9 13 164
MTHFR 19 55 58 22 9 163
FAH 24 43 64 19 12 162
ASL 30 50 58 13 8 159
PMM2 46 60 37 6 10 159
HBB, LOC106099062, LOC107133510 81 25 42 9 1 158
GCDH 40 57 47 8 5 157
BCKDHA 20 44 57 17 17 155
HEXB 19 51 67 5 13 155
MCOLN1 10 39 52 44 10 155
AGXT 46 31 48 15 13 153
GNPTG 11 33 90 13 6 153
MPL 17 56 59 14 7 153
SGCA 21 26 89 11 6 153
SLC25A13 29 49 60 6 9 153
BCKDHB 28 54 59 5 5 151
PEX10 11 37 81 11 11 151
MTRR 6 38 61 20 25 150
SLC37A4 30 27 77 7 9 150
ATP6V1B1 15 33 84 4 10 146
ADGRG1 8 33 72 23 9 145
RAG2 7 41 84 5 7 144
CFTR, LOC111674472 43 41 52 6 1 143
HBA1, LOC106804613 13 93 31 1 5 143
SLC26A2 7 60 57 12 7 143
HPS3 12 39 68 11 12 142
IVD 25 59 32 11 13 140
TRMU 8 54 49 13 16 140
PSAP 5 19 92 15 8 139
MMACHC 38 33 35 24 5 135
C17orf107, CHRNE 16 33 70 9 6 134
NDRG1 1 10 110 10 3 134
EYS, PHF3 17 41 63 10 2 133
ACAT1 18 51 44 8 10 131
ESCO2 15 34 49 19 12 129
SAMHD1 8 21 89 9 0 127
CTNS 26 22 53 14 11 126
GATAD1, PEX1 8 37 62 13 6 126
MPI 3 46 56 10 11 126
PHGDH 1 31 65 22 6 125
SLC7A7 14 26 69 10 5 124
CLN5 7 29 70 5 11 122
BTD 34 36 33 9 8 120
AMT 15 25 64 9 5 118
ARSB 23 35 47 5 8 118
CLN8 2 12 91 11 2 118
LIPA 16 34 49 12 7 118
PPT1 14 22 68 5 9 118
VPS45 0 18 88 9 3 118
CYBA 12 27 65 5 8 117
ACAD9 8 31 47 19 11 116
FANCA, ZNF276 17 13 72 8 6 116
FANCC 9 20 74 10 2 115
MMAA 14 25 65 6 5 115
BBS1, ZDHHC24 12 18 68 8 8 114
GAMT 13 18 72 6 5 114
PEX7 15 28 59 7 5 114
LPL 23 23 39 13 15 113
SGCG 11 21 66 6 8 112
ADA 22 25 51 9 4 111
HOGA1 18 33 46 8 5 110
ASNS, CZ1P-ASNS 2 53 42 8 3 108
MED17 0 28 70 1 9 108
MLC1 14 29 36 13 16 108
PFKM 4 18 64 13 9 108
CLN3 18 37 45 4 3 107
CYP17A1 32 33 37 3 2 107
WNT10A 8 30 50 13 6 107
CYP19A1, MIR4713HG, PIRC66 8 25 54 8 10 105
G6PC1 35 36 14 14 6 105
ALG6 5 30 46 14 9 104
DLD 6 29 46 13 10 104
GALK1 3 37 43 17 4 104
C10orf105, CDH23 1 5 78 11 8 103
OAT 12 25 51 12 3 103
VRK1 5 26 62 7 3 103
EIF2B5 18 24 40 18 1 101
GLB1 45 56 0 0 0 101
ALDH3A2 23 27 36 9 4 99
SUMF1 9 42 31 11 6 99
AGA 10 24 43 14 7 98
ALDOB 24 15 42 10 7 98
NAGS 3 25 53 9 8 98
SEPSECS 1 42 43 2 8 96
GRHPR 14 25 25 18 13 95
HMGCL 12 24 48 6 5 95
LOC126859690, PKHD1 5 35 38 15 2 95
MESP2 0 28 36 15 14 93
GAREM2, HADHA 9 22 45 11 3 90
ACOX1 1 11 44 20 13 89
BCS1L 7 37 31 7 7 89
SGCB 7 26 51 3 2 89
BSND 7 18 41 20 2 88
KCNJ11 1 20 50 9 8 88
GPHN, RDH12 22 14 39 9 2 86
ETFA 6 26 46 4 3 85
NDUFAF5 3 25 44 8 5 85
PEX2 4 23 48 5 5 85
SLC35A3 0 22 54 6 2 84
HAX1 9 10 52 10 2 83
LHX3 3 15 53 8 4 83
SLC17A5 11 28 35 1 7 82
SLC6A8 0 0 54 23 4 81
ABCD1, PLXNB3 7 7 38 23 5 80
CHM 5 4 49 13 9 80
CYBB 5 1 47 24 3 80
HSD3B2 8 22 21 22 7 80
MMAB 12 17 40 7 4 80
HJV 11 23 34 7 3 78
GNS 2 11 47 6 9 75
STAR 18 26 25 5 1 75
VSX2 4 13 46 6 6 75
BBS1 11 6 52 1 4 74
HYAL1 1 20 42 4 7 74
NPHS2 19 14 28 7 6 74
PROP1 13 20 22 12 7 74
SLC25A15 7 23 38 3 3 74
GLE1 1 23 31 11 6 72
F9 9 12 18 25 7 71
TSFM 0 31 27 9 4 71
TTPA 8 16 39 4 4 71
LDLRAP1 6 10 40 11 3 70
ETHE1 7 28 27 6 1 69
TYMP 3 20 38 4 4 69
CTSK 10 20 28 7 3 68
GLA, RPL36A-HNRNPH2 9 7 38 10 4 68
HADHA 7 14 38 5 4 68
ABCD1 3 10 30 21 2 66
CHRNE 10 12 30 8 6 66
EMD 2 1 44 13 6 66
PUS1 1 11 37 10 7 66
CFTR, LOC111674477 3 17 41 2 2 65
CLRN1 7 17 33 4 2 63
MTM1 2 2 32 22 5 63
MMADHC 4 16 30 4 8 62
DHDDS 1 11 44 4 1 61
LOC130067862, SCO2, TYMP 2 14 32 6 4 58
HYLS1, PUS3 0 16 32 5 4 57
AGPS 0 3 43 6 4 56
IDUA, SLC26A1 14 16 15 7 4 56
OTC 4 8 23 13 8 56
LOC126862264, MEFV 5 4 31 10 5 55
HBB, LOC107133510, LOC110006319 16 15 14 2 7 54
MPV17 7 21 19 5 2 54
PDHB 0 11 39 1 3 54
PTS 14 25 11 3 1 54
TMEM216 2 11 29 4 7 53
ALMS1, LOC126806252 2 6 34 6 3 51
CP, HPS3 3 13 25 4 5 50
CFTR, LOC111674463 1 0 44 2 2 49
GLE1, LOC101929270 4 22 19 3 0 48
EDA 4 5 22 11 5 47
IDS, LOC106050102 0 3 13 23 8 47
PDHA1 0 2 25 14 4 45
​intergenic 3 41 0 0 0 44
CFTR, LOC111674475 22 7 13 1 1 44
GJB1 7 1 26 6 3 43
LOC122152296, USH2A 8 9 22 1 3 43
HGSNAT, LOC130000316 1 4 32 5 0 42
POMGNT1 1 4 36 0 1 42
GPHN, RDH12, ZFYVE26 8 15 17 1 0 41
IL2RG 3 0 18 20 0 41
AQP2, AQP5 2 21 12 3 2 40
AXDND1, NPHS2 10 11 16 0 3 40
RAB23 4 10 13 10 3 40
CLN6 12 27 0 0 0 39
FANCA, LOC112486223 7 1 21 6 4 39
ARSB, LOC129994126 4 9 17 5 2 37
LOC130065433, NDUFAF5 0 17 14 4 0 35
IDS 3 3 14 13 1 34
NDUFS6 1 9 18 6 0 34
ACAD9, CFAP92 1 11 16 3 2 33
AQP2 5 9 10 7 2 33
GALT, LOC130001683 3 15 14 1 0 33
GAMT, LOC130062945 5 7 20 0 1 33
GNPTG, LOC130058158 1 8 21 3 0 33
OPA3 2 9 18 1 2 32
LOC130060903, NAGLU 3 10 18 0 0 31
CDKL5, RS1 9 2 9 7 3 30
CHRNE, LOC130060041 3 7 15 4 1 30
NPC2 5 3 18 1 2 29
GCDH, LOC117125594 6 9 8 3 1 27
CEP290, RLIG1 4 9 13 0 0 26
ACSF3, LOC125177393 1 7 11 2 3 24
LOC129930446, MMACHC 10 6 5 3 0 24
CLN5, LOC130009913 1 3 13 3 3 23
KIRREL2, NPHS1 3 6 5 4 5 23
ADA, LOC107303343 2 5 10 2 3 22
LOC123956210, SLC26A4 7 5 3 3 3 21
LOC130009366, SACS 0 5 13 2 1 21
MMAB, MVK 1 4 11 0 5 21
GBA1 7 3 9 0 1 20
CHRNE, LOC130060040 4 3 12 0 0 19
CPT2, LOC129930561 4 3 11 1 0 19
LOC113687175, TFR2 1 10 7 1 0 19
LOC129992585, SGCB 5 2 12 0 0 19
CFTR, LOC113664106 10 5 3 0 0 18
LOC126806373, NEB 0 1 14 3 0 18
LOC126861615, PAH 11 3 4 0 0 18
LOC130057891, MESP2 2 5 8 3 0 18
ABCB11, LOC126806400 2 3 11 1 0 17
ACADVL, LOC130060113 2 5 7 2 1 17
LDLRAP1, LOC129929773 3 3 9 2 0 17
LOC126862361, SLC12A3 5 5 5 0 2 17
LOC130009240, PUS1 0 4 10 2 1 17
LOC130063650, MAN2B1 0 7 9 1 0 17
FAM161A, LOC129933843 0 3 9 3 1 16
LOC126860531, NDRG1 0 0 12 2 2 16
AGPS, LOC129935172 0 0 8 4 2 14
AMT, NICN1 3 2 7 2 0 14
CDH23, LOC111982869 0 6 7 0 1 14
LOC129996727, SLC17A5 0 5 7 0 2 14
CAPN3, LOC126862115 1 3 7 1 1 13
DNAH5, LOC107457585 0 1 11 0 1 13
FANCA, LOC130059837 3 3 7 0 0 13
GALC, LOC130056217 5 2 4 2 0 13
LOC126860438, NBN 1 2 8 1 1 13
LOC129391064, MAN2B1 3 4 5 1 0 13
CERKL, LOC129935214 4 0 7 0 1 12
CPT1A, LOC126861244 0 0 9 2 1 12
DNAH5, LOC126807318 0 1 10 0 1 12
GCDH, LOC126862860, SYCE2 4 4 3 1 0 12
LOC121815974, OAT 2 4 5 1 0 12
LOC125446261, MLC1 1 6 3 1 1 12
LOC130006596, MED17 0 0 10 0 2 12
LOC130061271, MKS1 1 1 7 2 1 12
LOC130067862, TYMP 0 4 6 1 1 12
LOC129936056, SUMF1 0 0 4 5 2 11
CAPN3, LOC130056921 4 2 4 0 0 10
CERKL, LOC129935215 0 2 6 2 0 10
ETHE1, LOC130064595 1 2 3 0 4 10
EVC, LOC129992144 0 2 7 1 0 10
FANCA, LOC132090450 1 2 7 0 0 10
HSD3B2, LOC109029530 1 5 1 3 0 10
LOC129998796, PEX1 2 3 4 0 1 10
LOC130006765, PTS 2 6 1 1 0 10
LOC132090059, PUS1 1 4 2 0 3 10
ABCC8, LOC110121471 0 3 6 0 0 9
AIRE, LOC130066813 0 1 7 0 1 9
COL4A3, LOC129935730 2 3 1 1 2 9
LOC130056519, TECPR2 0 2 7 0 0 9
LOC130067864, TYMP 2 3 4 0 0 9
IL2RG, LOC126863274 0 0 5 3 0 8
LOC129931648, NTRK1 1 2 5 0 0 8
LOC130005193, SMPD1 2 1 4 0 1 8
RS1 1 2 1 1 3 8
LOC105378311, PCDH15 0 0 6 0 1 7
LOC130064709, OPA3 0 3 4 0 0 7
SAMHD1, TLDC2 0 0 7 0 0 7
ACADVL, DLG4 0 3 2 0 1 6
CEP290, LOC129390514 2 0 4 0 0 6
CERKL, ITGA4 0 3 2 1 0 6
CIITA, LOC130058443 0 2 3 1 0 6
FAH, LOC112272621 0 1 4 0 1 6
HBB, LOC106099062, LOC107133510, LOC110006319 4 1 1 0 0 6
HSD17B4, LOC129994460 2 1 3 0 0 6
IDS, LOC130068781 0 0 4 2 0 6
LOC112136095, MED17 0 0 6 0 0 6
LOC126862097, SLC12A6 0 2 3 1 0 6
LOC129992330, SEPSECS 0 2 3 1 0 6
LOC130061900, SGSH 3 1 2 0 0 6
ATP7B, LOC130009838 0 0 4 1 0 5
CHM, LOC129391306 0 0 2 1 2 5
DYSF, LOC122787137 0 1 3 0 1 5
LOC129388857, LRPPRC 0 1 3 1 0 5
LOC129998833, SLC25A13 0 3 2 0 0 5
LOC130055323, SLC7A7 0 1 2 1 1 5
COL7A1, MIR711 0 2 1 1 0 4
CYBB, LOC130068093 0 0 1 3 0 4
FMR1 0 0 0 1 3 4
LDLR, MIR6886 2 0 1 0 1 4
LOC107882126, TGM1 0 0 3 0 1 4
LOC129390683, SLC12A6 0 2 2 0 0 4
LOC129936949, PDHB 0 0 4 0 0 4
LOC130063376, MCOLN1 0 2 1 1 0 4
MRPL36, NDUFS6 0 0 3 1 0 4
CFTR, LOC113633877 1 0 1 1 0 3
FANCA, LOC132090445, ZNF276 2 0 1 0 0 3
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 1 0 1 3
GLB1, LOC129936434, TMPPE 2 1 0 0 0 3
HBA1, HBA2, LOC106804612 1 1 1 0 0 3
LOC129933372, MPV17 0 1 2 0 0 3
LOC130055324, SLC7A7 0 1 2 0 0 3
ACAD9, LOC126806807 0 0 1 1 0 2
ACADVL, DVL2 1 1 0 0 0 2
ACYP1, NPC2 0 0 0 0 2 2
APBB1, SMPD1 2 0 0 0 0 2
ATP7A, PGK1 0 0 1 0 1 2
ATRX, LOC130068458 0 0 2 0 0 2
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 1 1 0 0 2
DBT 0 0 0 0 2 2
DHCR7, NADSYN1 0 0 1 0 1 2
FAH, LOC130057734 0 0 0 0 2 2
LOC108863620, STAR 1 0 1 0 0 2
LOC129930245, PPT1 1 0 1 0 0 2
LOC129938008, MCCC1 0 1 1 0 0 2
SCO2, TYMP 0 0 1 1 0 2
ABCC8, KCNJ11 0 0 0 0 1 1
ADA, PKIG 0 1 0 0 0 1
ALG11, ATP7B 0 0 1 0 0 1
ATM, LOC130006700 0 0 1 0 0 1
BBS4 0 0 0 0 1 1
BRAF 1 0 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
CAPN3, ZNF106 0 0 1 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CCDC40, GAA 1 0 0 0 0 1
CFTR, LOC113633875 0 0 0 0 1 1
DDX25, HYLS1, PUS3 1 0 0 0 0 1
DYSF, LOC110121121 1 0 0 0 0 1
EVC2 0 0 0 0 1 1
F5 0 0 0 0 1 1
FMR1, FRAXA, LOC107032825 0 0 0 0 1 1
GALK1, ITGB4 0 0 0 0 1 1
GCDH, KLF1, LOC117125594 1 0 0 0 0 1
GFM2, HEXB 0 0 1 0 0 1
HPS1, MIR4685 1 0 0 0 0 1
LOC126806368, MMADHC 0 0 1 0 0 1
LOC129935625, WNT10A 0 0 1 0 0 1
LOC129998796, PEX1, RBM48 0 0 0 0 1 1
LOC129998967, TFR2 0 1 0 0 0 1
LOC130001397, SLC39A4 0 0 1 0 0 1
LOC130063648, MAN2B1 0 0 1 0 0 1
LOC132089454, SLC17A5 0 1 0 0 0 1
MIR6753, TCIRG1 0 1 0 0 0 1
MPV17, TRIM54, UCN 0 1 0 0 0 1
PTS, TEX12 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 313
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nemaline myopathy 2 68 273 1535 155 104 2135
Autosomal recessive polycystic kidney disease 149 654 830 167 99 1899
Ataxia-telangiectasia syndrome 171 144 1234 48 40 1637
Usher syndrome type 2A 246 274 901 112 91 1624
Primary ciliary dyskinesia 97 271 953 102 103 1526
CFTR-related disorder 489 385 566 50 14 1504
Leber congenital amaurosis 242 328 792 89 45 1496
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 21 5 568 482 66 1142
Alstrom syndrome 81 136 689 104 64 1074
Usher syndrome type 1 31 99 772 80 92 1074
Cohen syndrome 41 147 685 97 70 1040
Alport syndrome 86 493 288 61 79 1007
Fanconi anemia 130 145 604 72 14 965
Zellweger spectrum disorders 74 226 472 75 58 905
Usher syndrome type 1B 97 122 555 43 49 866
Autosomal recessive limb-girdle muscular dystrophy type 2B 110 98 486 92 48 834
Retinitis pigmentosa 25 106 198 466 51 12 833
Bloom syndrome 37 81 582 101 24 825
Familial dysautonomia 1 220 486 77 29 813
Charlevoix-Saguenay spastic ataxia 29 145 497 84 32 787
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency 63 75 615 0 0 753
Glycogen storage disease, type II 119 98 333 47 20 617
Epidermolysis bullosa dystrophica 129 153 230 57 30 599
Wilson disease 160 142 232 40 23 597
Usher syndrome type 1F 18 50 406 44 38 556
Glycogen storage disease type III 56 72 378 13 18 537
Autosomal recessive nonsyndromic hearing loss 77 15 117 317 49 36 534
Glycine encephalopathy 63 96 297 42 35 533
VPS13A-related neurodegenerative disease 30 115 253 62 58 518
Dyskeratosis congenita 4 49 344 66 28 491
Familial hypercholesterolemia 110 99 186 59 15 469
Gaucher disease 100 225 104 4 6 439
Hereditary hyperinsulinism 51 93 232 22 27 425
Congenital myasthenic syndrome 49 87 237 29 22 424
Joubert syndrome 20 98 269 16 15 418
Propionic acidemia 57 119 198 23 16 413
Autosomal recessive limb-girdle muscular dystrophy type 2A 94 73 197 19 16 399
Microcephaly, normal intelligence and immunodeficiency 9 65 282 14 11 381
Smith-Lemli-Opitz syndrome 38 146 138 31 23 376
Niemann-Pick disease, type C1 68 101 155 23 26 373
Ehlers-Danlos syndrome, dermatosparaxis type 1 23 229 67 42 362
MHC class II deficiency 2 27 248 55 30 362
Hermansky-Pudlak syndrome 34 78 175 33 38 358
Familial hypokalemia-hypomagnesemia 118 88 98 22 28 354
Medium-chain acyl-coenzyme A dehydrogenase deficiency 60 157 103 16 17 353
Mucopolysaccharidosis type 1 77 78 130 34 31 350
Pendred syndrome 100 90 118 21 19 348
Tay-Sachs disease 64 133 129 9 12 347
Metachromatic leukodystrophy 73 74 149 31 19 346
Phenylketonuria 193 83 52 4 10 342
alpha Thalassemia 53 194 76 3 9 335
Finnish congenital nephrotic syndrome 50 76 132 30 34 322
Ellis-van Creveld syndrome 28 62 150 38 31 309
Galactosemia 56 136 100 9 8 309
Hereditary spastic paraplegia 49 5 26 192 60 26 309
Hereditary insensitivity to pain with anhidrosis 28 38 208 21 13 308
Very long chain acyl-CoA dehydrogenase deficiency 49 98 125 15 11 298
Congenital hyperammonemia, type I 19 80 147 21 27 294
Glycogen storage disease, type V 36 73 146 16 16 287
Mucolipidosis type II 47 62 132 21 17 279
Alpha thalassemia-X-linked intellectual disability syndrome 3 11 189 57 13 273
Mucopolysaccharidosis, MPS-III-A 40 50 111 51 19 271
Deficiency of alpha-mannosidase 27 66 129 21 25 268
Polyglandular autoimmune syndrome, type 1 28 38 154 23 22 265
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2 54 162 36 10 264
Metaphyseal chondrodysplasia, McKusick type 19 109 119 5 7 259
Autosomal recessive congenital ichthyosis 1 52 37 114 26 24 253
Autosomal recessive osteopetrosis 1 30 51 137 18 13 249
Neuronal ceroid lipofuscinosis 2 36 30 163 5 15 249
Achromatopsia 39 34 127 25 23 248
Galactosylceramide beta-galactosidase deficiency 42 70 102 14 20 248
Classic homocystinuria 43 56 120 20 8 247
Progressive familial intrahepatic cholestasis type 2 44 74 92 21 16 247
Carnitine palmitoyltransferase II deficiency 21 52 142 12 8 235
Autosomal recessive DOPA responsive dystonia 12 40 127 34 18 231
Corneal dystrophy-perceptive deafness syndrome 15 61 77 42 36 231
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 28 60 117 17 9 231
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 86 52 73 7 13 231
Muscle eye brain disease 20 41 141 19 9 230
Niemann-Pick disease, type A 53 73 57 26 20 229
Schimke immuno-osseous dysplasia 23 35 118 28 17 221
Autosomal recessive limb-girdle muscular dystrophy type 2I 16 40 146 10 7 219
beta Thalassemia 101 41 57 11 8 218
Hypophosphatasia 60 73 58 13 12 216
Familial Mediterranean fever 10 8 143 35 17 213
X-linked Alport syndrome 15 49 79 55 15 213
Mucopolysaccharidosis, MPS-III-C 22 40 125 16 8 211
Mucopolysaccharidosis, MPS-III-B 35 59 87 17 12 210
Bardet-Biedl syndrome 2 31 45 111 11 11 209
Epidermolysis bullosa dystrophica inversa, autosomal recessive 3 1 146 35 24 209
Fumarase deficiency 3 31 159 9 4 206
Usher syndrome type 1C 18 24 135 7 21 205
Citrullinemia type I 36 62 75 19 12 204
GNE myopathy 37 58 99 4 4 202
Plasma factor XI deficiency 41 70 61 18 11 201
Chronic granulomatous disease 17 28 110 32 11 198
Glutaric aciduria, type 1 51 70 58 12 6 197
Hemochromatosis type 3 7 51 91 29 17 195
Stuve-Wiedemann syndrome 7 46 101 23 17 194
Hereditary acrodermatitis enteropathica 6 48 86 30 23 193
Combined malonic and methylmalonic acidemia 4 74 89 17 8 192
Retinitis pigmentosa 26 24 42 103 15 7 191
Abetalipoproteinaemia 12 27 110 14 25 188
Bardet-Biedl syndrome 1 23 24 120 9 12 188
Bardet-Biedl syndrome 10 26 47 90 18 7 188
Pontocerebellar hypoplasia type 6 10 88 63 15 11 187
GNPTG-mucolipidosis 12 41 111 16 6 186
Meckel syndrome, type 1 14 29 125 11 7 186
Autosomal recessive nonsyndromic hearing loss 1A 75 49 43 10 8 185
Glycogen storage disease, type IV 19 55 85 12 14 185
Agenesis of the corpus callosum with peripheral neuropathy 4 27 132 12 9 184
Cholestanol storage disease 44 41 68 25 6 184
Histiocytic medullary reticulosis 7 41 104 15 16 183
Retinitis pigmentosa 28 17 35 110 13 7 182
Cystic fibrosis 10 3 129 23 14 179
Bardet-Biedl syndrome 12 9 40 90 17 21 177
Carnitine palmitoyl transferase 1A deficiency 4 31 111 17 13 176
Bifunctional peroxisomal enzyme deficiency 8 58 82 9 13 170
Corticosterone methyl oxidase type II deficiency 14 45 77 18 16 170
Athabaskan severe combined immunodeficiency 10 34 113 11 1 169
Fanconi anemia complementation group A 1 0 112 17 39 169
Menkes kinky-hair syndrome 2 4 125 34 4 169
Tyrosinemia type I 24 44 68 19 14 169
Walker-Warburg congenital muscular dystrophy 10 31 111 8 9 169
Spongy degeneration of central nervous system 24 81 53 8 2 168
Late-infantile neuronal ceroid lipofuscinosis 15 27 111 5 9 167
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 12 59 70 13 12 166
Biotinidase deficiency 37 77 33 9 8 164
Fanconi anemia complementation group G 18 36 91 12 7 164
Glutaric acidemia type 2C 30 72 58 3 1 164
Holocarboxylase synthetase deficiency 5 49 80 16 14 164
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 19 55 58 22 9 163
Argininosuccinate lyase deficiency 30 50 58 13 8 159
Cobalamin C disease 48 39 40 27 5 159
Mucolipidosis type IV 10 41 53 45 10 159
PMM2-congenital disorder of glycosylation 46 60 37 6 10 159
Autosomal recessive retinitis pigmentosa 0 0 156 1 0 157
3-methylcrotonyl-CoA carboxylase 1 deficiency 18 41 89 6 2 156
Sandhoff disease 19 51 68 5 13 156
Maple syrup urine disease type 1A 20 44 57 17 17 155
Mucopolysaccharidosis type 6 27 44 64 10 10 155
Congenital amegakaryocytic thrombocytopenia 17 56 59 14 7 153
Primary hyperoxaluria, type I 46 31 48 15 13 153
Acyl-CoA dehydrogenase 9 deficiency 9 42 64 23 13 151
Autosomal recessive limb-girdle muscular dystrophy type 2D 21 26 89 11 4 151
Maple syrup urine disease type 1B 28 54 59 5 5 151
Methylcobalamin deficiency type cblE 6 38 61 20 25 150
Citrullinemia 29 52 55 6 7 149
Glucose-6-phosphate transport defect 30 27 77 7 8 149
Mitochondrial neurogastrointestinal encephalomyopathy 7 41 81 12 7 148
Deficiency of guanidinoacetate methyltransferase 18 25 92 6 6 147
Adrenoleukodystrophy 10 17 68 44 7 146
Renal tubular acidosis with progressive nerve deafness 15 33 84 4 10 146
3-methylcrotonyl-CoA carboxylase 2 deficiency 15 61 66 2 1 145
Bilateral frontoparietal polymicrogyria 8 33 72 23 9 145
Achondrogenesis, type IB 7 60 57 12 7 143
Enhanced S-cone syndrome 21 32 77 8 5 143
Leber congenital amaurosis 5 13 27 88 12 3 143
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 8 54 49 13 16 140
Isovaleryl-CoA dehydrogenase deficiency 25 59 32 11 13 140
Neuronal ceroid lipofuscinosis 8 33 80 8 8 137
Aicardi Goutieres syndrome 8 21 96 9 0 134
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 24 31 61 11 7 134
Lysinuric protein intolerance 14 28 73 11 6 132
Mitochondrial complex I deficiency 4 51 57 18 2 132
Deficiency of acetyl-CoA acetyltransferase 18 51 44 8 10 131
Roberts-SC phocomelia syndrome 15 34 49 19 12 129
Cystinosis 26 22 53 14 11 126
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 28 86 1 11 126
MPI-congenital disorder of glycosylation 3 46 56 10 11 126
Carnitine deficiency 34 53 38 0 0 125
PHGDH deficiency 1 31 65 22 6 125
Rhizomelic chondrodysplasia punctata 15 28 67 6 8 124
Megalencephalic leukoencephalopathy with subcortical cysts 15 35 39 14 17 120
Neuronal ceroid lipofuscinosis 1 15 22 69 5 9 120
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 18 88 9 3 118
Lysosomal acid lipase deficiency 16 34 49 12 7 118
Ornithine aminotransferase deficiency 14 29 56 13 3 115
Charcot-Marie-Tooth disease type 4D 1 10 97 6 0 114
Steroid-resistant nephrotic syndrome 29 25 44 7 9 114
Autosomal recessive limb-girdle muscular dystrophy type 2C 11 21 66 6 8 112
Hyperlipoproteinemia, type I 23 23 39 13 13 111
Methylmalonic aciduria, cblA type 14 25 63 5 4 111
Spondylocostal dysostosis 2, autosomal recessive 2 33 44 18 14 111
Multiple sulfatase deficiency 9 42 35 16 8 110
Primary hyperoxaluria type 3 18 33 46 8 5 110
Renal carnitine transport defect 4 1 89 10 5 109
Autosomal recessive limb-girdle muscular dystrophy type 2E 12 28 63 3 2 108
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 2 53 42 8 3 108
Glycogen storage disease, type VII 4 18 64 13 9 108
Schöpf-Schulz-Passarge syndrome 8 30 51 13 6 108
Aromatase deficiency 8 26 55 8 10 107
Deficiency of steroid 17-alpha-monooxygenase 32 33 37 3 2 107
Lethal congenital contractural syndrome Finnish type 5 45 38 13 6 107
Neuronal ceroid lipofuscinosis 8 2 12 80 11 2 107
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 35 36 14 13 8 106
Deficiency of galactokinase 3 37 43 17 5 105
Retinitis pigmentosa 1 1 37 26 40 105
ALG6-congenital disorder of glycosylation 1C 5 30 46 14 9 104
Mucopolysaccharidosis, MPS-IV-B 47 57 0 0 0 104
Pyruvate dehydrogenase E3 deficiency 6 29 46 13 10 104
Pontocerebellar hypoplasia type 2D 1 44 46 3 8 102
Vanishing white matter disease 18 24 40 18 1 101
Methylmalonic aciduria, cblB type 13 21 51 7 8 100
Sjögren-Larsson syndrome 23 27 36 9 4 99
Aspartylglucosaminuria 10 24 43 14 7 98
Hereditary fructosuria 24 15 42 10 7 98
Hyperammonemia, type III 3 25 53 9 8 98
Salla disease 11 34 42 1 9 97
Primary hyperoxaluria, type II 14 25 25 18 13 95
Decreased circulating carnitine concentration 10 1 72 9 1 93
3 beta-Hydroxysteroid dehydrogenase deficiency 9 27 22 25 7 90
Fanconi anemia complementation group C 0 0 70 19 1 90
Acyl-CoA oxidase deficiency 1 11 44 20 13 89
GRACILE syndrome 7 37 31 7 7 89
Bartter syndrome 7 18 41 20 2 88
Permanent neonatal diabetes mellitus 1 20 50 9 8 88
Choroideremia 5 4 51 14 11 85
Juvenile neuronal ceroid lipofuscinosis 18 36 28 1 0 83
Kostmann syndrome 9 10 52 10 2 83
Methylmalonic acidemia 1 0 66 3 12 82
Creatine deficiency syndrome 1 0 0 54 23 4 81
Pontocerebellar hypoplasia type 1A 5 26 43 5 1 80
Ethylmalonic encephalopathy 8 30 30 6 5 79
Hemochromatosis type 2A 11 23 34 7 3 78
Congenital lipoid adrenal hyperplasia due to STAR deficency 19 26 26 5 1 77
Microphthalmia 4 13 46 6 6 75
Sanfilippo syndrome 2 11 47 6 9 75
Deficiency of hyaluronoglucosaminidase 1 20 42 4 7 74
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 7 23 38 3 3 74
Pituitary hormone deficiency, combined, 2 13 20 22 12 7 74
Nephrogenic diabetes insipidus 7 30 21 10 4 72
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 22 45 4 0 71
Fabry disease 10 7 39 10 5 71
Familial isolated deficiency of vitamin E 8 16 39 4 4 71
Hereditary factor IX deficiency disease 9 12 18 25 7 71
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 31 27 8 3 69
Methylcrotonyl-CoA carboxylase deficiency 1 0 58 3 7 69
Myopathy, lactic acidosis, and sideroblastic anemia 2 19 40 4 3 68
Pyknodysostosis 10 20 28 7 3 68
Glutaric acidemia type 2A 6 26 31 2 2 67
Emery-Dreifuss muscular dystrophy 2 1 44 13 6 66
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 16 32 12 4 1 65
Non-acquired combined pituitary hormone deficiency with spine abnormalities 3 15 41 5 1 65
Methylmalonic aciduria and homocystinuria type cblD 4 16 31 4 8 63
Severe X-linked myotubular myopathy 2 2 32 22 5 63
Pyruvate dehydrogenase complex deficiency 0 2 40 15 5 62
Retinitis pigmentosa 59 1 11 44 4 1 61
Hydrolethalus syndrome 1 16 32 5 4 58
Dystrophin deficiency 4 0 31 11 10 56
Ornithine carbamoyltransferase deficiency 4 8 23 13 8 56
Joubert syndrome 2 2 11 29 4 7 53
Multiple acyl-CoA dehydrogenase deficiency 1 0 47 4 1 53
X-linked severe combined immunodeficiency 3 0 23 23 0 49
Rhizomelic chondrodysplasia punctata type 3 0 3 33 9 3 48
Usher syndrome type 3 7 17 23 1 0 48
Goldmann-Favre syndrome 0 0 29 9 9 47
Hypohidrotic X-linked ectodermal dysplasia 4 5 22 11 5 47
Mitochondrial DNA depletion syndrome, hepatocerebral form 7 22 17 0 0 46
Charcot-Marie-Tooth disease 7 1 26 5 3 42
Neuronal ceroid lipofuscinosis 5 0 0 30 2 9 41
Pyruvate dehydrogenase phosphatase deficiency 0 11 28 0 2 41
RAB23-related Carpenter syndrome 4 10 13 10 3 40
3-Methylglutaconic aciduria type 3 2 12 22 1 2 39
Ceroid lipofuscinosis, neuronal, 6A 12 27 0 0 0 39
Juvenile retinoschisis 10 4 10 8 6 38
Charcot-Marie-Tooth disease type 4 0 0 25 6 5 36
Niemann-Pick disease, type C2 5 3 18 1 4 31
Sphingomyelin/cholesterol lipidosis 0 0 24 5 1 30
Dyskeratosis congenita, autosomal dominant 1 0 0 9 17 1 27
Leigh syndrome 0 0 22 1 3 26
Congenital pontocerebellar hypoplasia type 1 0 0 19 2 2 23
Deficiency of hydroxymethylglutaryl-CoA lyase 0 0 14 5 3 22
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 3 0 6 3 7 19
Combined pituitary hormone deficiencies, genetic form 0 0 12 3 3 18
Adult-onset citrullinemia type I 0 0 9 2 6 17
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 0 9 6 2 17
Autosomal dominant Alport syndrome 0 0 4 11 1 16
Usher syndrome type 3A 0 0 10 3 2 15
Mucopolysaccharidosis, MPS-II 0 0 0 11 3 14
Arthrogryposis multiplex congenita 0 0 9 2 2 13
Lethal arthrogryposis-anterior horn cell disease syndrome 0 0 12 1 0 13
Rhizomelic chondrodysplasia punctata type 1 1 0 10 2 0 13
Corticosterone 18-monooxygenase deficiency 0 0 9 3 0 12
Generalized dominant dystrophic epidermolysis bullosa 0 0 2 6 4 12
Inborn mitochondrial myopathy; Sideroblastic anemia 0 0 0 2 6 8
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 0 0 4 3 1 8
Familial Mediterranean fever, autosomal dominant 0 0 3 0 4 7
Hereditary disease 0 0 3 2 1 6
Fragile X syndrome 0 0 0 1 4 5
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 1 0 2 1 4
Neuronal ceroid lipofuscinosis 3 0 0 2 1 1 4
Polycystic kidney disease 0 0 1 2 1 4
Granulomatous disease, chronic, X-linked 0 0 3 0 0 3
Hereditary sensory and autonomic neuropathy 0 0 0 3 0 3
Encephalomyopathy with respiratory failure and lactic acidosis 0 0 0 1 1 2
Maple syrup urine disease 0 0 0 0 2 2
Spinal muscular atrophy 0 0 0 0 2 2
Adult polyglucosan body disease 0 0 0 1 0 1
Autosomal dominant familial hypercholesterolemia 0 0 0 0 1 1
Bardet-Biedl syndrome 0 0 0 0 1 1
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 0 0 0 1 0 1
Factor V deficiency 0 0 0 0 1 1
Familial cardiofaciocutaneous syndrome 1 0 0 0 0 1
Glycogen storage disease 1 0 0 0 0 1
Glycogen storage disease, type I 0 0 0 1 0 1
Hereditary hemochromatosis type 4 0 0 0 0 1 1
Hereditary hemochromatosis type 5 0 0 0 1 0 1
Homocystinuria; Methylmalonic aciduria 1 0 0 0 0 1
Hurler syndrome 1 0 0 0 0 1
Inherited spastic paresis 0 0 1 0 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 0 1
Tyrosinemia 0 0 0 0 1 1

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