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:
ClinVar version:

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
3917 1069 21307 5909 3905 36106

Gene and significance breakdown #

Total genes and gene combinations: 445
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DMD 37 8 598 493 71 1207
NEB 19 10 815 131 88 1063
ATM 66 8 736 35 33 878
USH2A 99 18 523 101 88 829
CFTR 281 23 364 58 21 746
CDH23 16 6 488 65 75 650
BLM 25 14 489 97 24 649
VPS13B 22 11 445 90 70 638
ALMS1 35 7 399 89 61 591
PKHD1 53 34 259 141 98 585
DNAH5 38 6 397 67 74 582
EYS 39 17 400 58 45 559
MYO7A 44 11 404 42 49 550
DYSF 47 8 333 91 47 526
FANCA 36 5 328 40 35 444
COL7A1 45 12 206 95 58 416
GAA 66 8 277 45 19 415
ELP1 1 9 285 77 29 401
ATM, C11orf65 37 6 330 12 7 392
CEP290 55 8 267 30 22 382
SACS 18 3 245 81 31 378
RTEL1, RTEL1-TNFRSF6B 2 8 241 79 29 359
PCDH15 7 4 250 44 37 342
AGL 29 4 265 12 18 328
ATP7B 69 11 150 36 22 288
NBN 6 9 243 12 10 280
ADAMTS2 1 3 143 63 42 252
LOXHD1 6 12 144 48 36 246
CIITA 1 2 159 48 30 240
NEB, RIF1 14 6 186 16 16 238
RPGRIP1L 9 5 177 15 15 221
GLDC 26 3 125 31 30 215
CAPN3 34 5 140 18 15 212
AOPEP, FANCC 4 6 146 41 7 204
NTRK1 8 2 155 19 13 197
LDLR 38 14 85 44 14 195
ABCC8 26 10 108 22 25 191
VPS13A 11 5 55 57 58 186
TECPR2 2 1 98 58 26 185
COL4A4 5 5 84 32 49 175
AIRE 12 10 105 20 21 168
ATRX 1 0 96 55 13 165
RMRP 4 25 122 5 7 163
IDUA 36 5 66 27 27 161
MEFV 4 0 116 25 16 161
TPP1 17 2 122 5 15 161
PAH 114 4 28 4 10 160
CRB1 19 6 96 27 8 156
COL4A3, MFF-DT 14 4 72 36 28 154
TH 7 5 91 34 16 153
CBS 27 1 96 20 8 152
NPC1 30 10 62 23 26 151
FH 4 2 128 9 4 147
SLC22A5 29 3 100 10 5 147
CNGB3 14 3 79 24 23 143
DHCR7 21 14 57 29 20 141
GNPTAB 23 4 77 20 17 141
EVC 15 3 60 32 30 140
PEX1 16 6 74 29 15 140
PYGM 17 13 77 16 16 139
ACSF3 5 4 98 15 16 138
TCIRG1 9 3 96 17 13 138
USH1C 7 2 101 7 21 138
SLC12A3 46 14 29 22 26 137
CPS1 4 8 75 21 27 135
SLC26A4 49 7 47 16 16 135
ACADVL 29 7 73 13 9 131
FKRP 9 3 102 9 8 131
NPHS1 26 6 45 25 29 131
PEX6 6 5 85 14 19 129
TGM1 27 2 51 25 23 128
NR2E3 10 2 84 17 14 127
ACADM 29 11 53 16 17 126
SMPD1 28 5 38 31 20 122
CPT2 10 4 89 10 8 121
DCLRE1C 4 0 86 21 10 121
GALC 20 8 62 12 17 119
SMARCAL1 8 1 66 26 17 118
ATP7A 4 0 68 35 10 117
HEXA 35 10 48 9 12 114
POMGNT1, TSPAN1 11 2 71 19 8 111
FKTN 5 2 86 7 9 109
RAPSN 8 3 81 8 9 109
MAN2B1 14 2 48 18 25 107
HBB, LOC106099062, LOC107133510 64 3 29 9 1 106
DNAI2 6 1 62 20 16 105
DNAI1 3 7 71 12 11 104
MCCC1 14 3 74 7 6 104
ASS1 22 6 40 21 14 103
GJB2 48 6 31 10 8 103
MKS1 5 2 81 9 6 103
MMUT 44 5 34 7 13 103
SLC4A11 8 4 14 41 36 103
LCA5 6 2 69 18 7 102
BBS2 16 3 60 11 11 101
SGSH 15 3 47 22 13 100
CPT1A 4 2 67 14 12 99
FAM161A 8 1 68 12 10 99
GALT 33 12 37 8 8 98
BBS12 8 1 53 14 21 97
BBS10 15 1 54 18 7 95
MFSD8 5 3 74 4 9 95
MTTP 5 2 50 13 25 95
NDRG1 1 0 81 10 3 95
CLN5 7 1 70 5 11 94
HGSNAT 11 1 63 11 8 94
CYP27A1 28 1 36 22 6 93
COL4A5 6 1 14 55 16 92
HPS1 6 1 46 18 21 92
ABCD1 4 1 37 42 7 91
ARSA 33 2 24 16 16 91
PCCA 10 4 56 9 12 91
RPE65 23 6 44 9 9 91
FANCG 13 1 61 11 3 89
GNE 17 5 59 4 4 89
GNPTG 5 1 65 12 6 89
MCOLN1 9 6 19 44 10 88
SGCA 11 3 59 9 6 88
ALPL 26 4 32 13 12 87
CERKL 11 7 50 12 7 87
ETFDH 15 7 58 5 1 86
SLC37A4 11 1 58 7 9 86
PEX10 7 0 56 11 11 85
CYP11B2, LOC106799834 5 3 42 18 16 84
SLC39A4 1 1 32 27 23 84
BCKDHA 13 3 34 16 17 83
LRPPRC 1 0 41 31 10 83
CLN8 1 1 70 8 2 82
FANCC 6 3 61 10 2 82
MCCC2 10 4 60 4 4 82
SLC12A6 0 2 60 11 9 82
ASL 24 6 29 13 8 80
MTRR 4 4 29 18 25 80
BBS1, ZDHHC24 6 2 52 8 8 76
C10orf105, CDH23 1 2 54 11 8 76
FAH 13 4 27 19 12 75
MMACHC 25 2 20 23 5 75
PCCB 18 3 37 13 4 75
ABCB11 13 5 21 19 16 74
CYBA 6 2 54 4 8 74
GBE1 7 5 35 13 14 74
HLCS 7 3 37 13 14 74
RAG2 7 2 52 5 7 73
CFTR, LOC111674472 26 3 37 5 1 72
GAMT 6 3 54 6 3 72
IVD 8 4 36 11 13 72
PPT1 7 1 51 4 9 72
TFR2 1 2 22 29 18 72
PSAP 1 1 49 13 7 71
F11 13 4 25 17 11 70
GCDH 28 8 21 8 5 70
PMM2 27 8 20 5 10 70
SLC7A7 5 2 48 10 5 70
BTD 21 6 25 9 8 69
MTHFR 10 6 22 22 9 69
AGXT 22 2 17 14 13 68
AMT 7 1 46 9 5 68
C17orf107, CHRNE 6 2 45 9 6 68
NAGLU 18 2 20 16 12 68
ADA 14 5 35 9 4 67
CTNS 15 1 25 14 11 66
EYS, PHF3 9 0 48 7 2 66
FANCA, ZNF276 4 2 46 7 6 65
G6PC1 29 2 14 14 6 65
VPS45 0 0 52 9 3 64
SGCG 7 2 42 6 6 63
ADGRG1 5 0 27 21 9 62
ATP6V1B1 8 0 40 4 10 62
BCKDHB 16 7 29 5 5 62
SAMHD1 4 1 47 9 0 61
HSD17B4 4 4 30 9 13 60
VRK1 1 1 48 7 3 60
LIFR 3 2 17 20 17 59
GATAD1, PEX1 3 4 32 13 6 58
ACAT1 7 3 29 8 10 57
SLC25A13 11 5 26 6 9 57
GBA1, LOC106627981 29 4 14 4 5 56
GFM1 6 7 18 12 12 55
HEXB 7 5 25 5 13 55
PEX7 11 1 31 7 5 55
EMD 0 0 35 13 6 54
GPHN, RDH12 12 4 28 8 2 54
LPL 11 4 11 13 15 54
MMAA 8 0 36 5 5 54
RARS2 1 2 26 15 10 54
LIPA 11 1 22 12 7 53
MMAB 6 2 35 7 3 53
GRHPR 10 3 8 18 13 52
LOC126862264, MEFV 5 1 31 10 5 52
MPL 7 3 22 13 7 52
SLC6A8 0 0 25 23 4 52
HMGCL 8 4 28 6 5 51
OAT 9 1 26 12 3 51
PFKM 3 5 22 12 9 51
ACAD9 3 6 11 19 11 50
TRMU 3 3 15 13 16 50
AGA 3 1 25 13 7 49
HOGA1 7 3 26 8 5 49
PHGDH 1 1 20 21 6 49
CYBB 2 0 20 23 3 48
MPI 1 3 23 10 11 48
SLC26A2 6 3 21 11 7 48
GAREM2, HADHA 5 3 25 11 3 47
HPS3 5 1 19 9 12 46
BBS1 4 1 35 1 4 45
HAX1 4 1 28 10 2 45
MLC1 5 1 10 13 16 45
WNT10A 4 0 22 13 6 45
BSND 2 2 19 19 2 44
CHM 2 0 20 13 9 44
ACOX1 0 0 10 20 13 43
CYP19A1, MIR4713HG, PIRC66 2 2 21 8 10 43
DLD 2 0 18 13 10 43
ESCO2 6 2 5 18 12 43
KCNJ11 0 4 24 9 6 43
LDLRAP1 3 1 25 11 3 43
PEX2 4 1 29 4 5 43
ARSB 10 0 19 5 8 42
CHRNE 3 4 22 7 6 42
GLA, RPL36A-HNRNPH2 4 1 24 9 4 42
ASPA, SPATA22 13 5 13 8 2 41
MTM1 1 0 13 22 5 41
NDUFAF5 0 3 25 8 5 41
EIF2B5 8 6 7 18 1 40
F9 3 0 5 25 7 40
GALK1 4 0 15 17 4 40
ALDOB 9 3 10 10 7 39
ALG6 2 3 11 14 9 39
GNS 0 2 22 6 9 39
SGCB 3 1 30 3 2 39
HSD3B2 7 1 3 20 7 38
MESP2 0 0 10 14 14 38
NAGS 1 2 18 9 8 38
CYP17A1 12 4 16 3 2 37
OTC 4 2 12 11 8 37
CFTR, LOC111674477 3 1 29 1 2 36
IDS, LOC106050102 0 0 5 23 8 36
SEPSECS 0 2 24 2 8 36
SUMF1 4 4 11 11 6 36
ALMS1, LOC126806252 1 1 24 6 3 35
CLRN1 7 1 21 4 2 35
ETFA 2 0 26 4 3 35
ALDH3A2 13 0 8 9 4 34
SLC17A5 8 3 15 1 7 34
IL2RG 1 0 13 19 0 33
POMGNT1 0 1 31 0 1 33
SLC25A15 3 2 24 1 3 33
SLC35A3 1 0 24 6 2 33
ASNS, CZ1P-ASNS 1 4 16 8 3 32
GJB1 5 0 18 6 3 32
HADHA 3 1 19 5 4 32
HBA2, LOC106804612 14 3 9 2 4 32
IDUA, SLC26A1 10 0 11 7 4 32
MED17 0 0 22 1 9 32
NPHS2 10 2 7 7 6 32
PROP1 4 1 9 11 7 32
TMEM216 1 1 19 4 7 32
BCS1L 5 2 10 7 7 31
DHDDS 1 0 25 4 1 31
FANCA, LOC112486223 4 0 17 6 4 31
PUS1 0 1 13 10 7 31
TTPA 6 1 17 3 4 31
VSX2 0 1 17 6 6 30
MMADHC 2 1 14 4 8 29
CFTR, LOC111674475 19 1 6 1 1 28
ETHE1 5 2 14 6 1 28
LHX3 2 1 13 8 4 28
PDHA1 0 0 10 14 4 28
HBB, LOC107133510, LOC110006319 12 1 5 2 7 27
LOC130067862, SCO2, TYMP 2 1 13 6 5 27
AGPS 0 0 16 6 4 26
GLE1 1 0 10 9 6 26
LOC126859690, PKHD1 1 1 8 14 2 26
CLN3 1 1 17 3 3 25
STAR 9 3 7 5 1 25
TYMP 3 2 13 4 3 25
HYAL1 0 0 13 4 7 24
HYLS1, PUS3 1 0 15 4 4 24
EDA 2 1 4 11 5 23
GNPTG, LOC130058158 0 1 19 3 0 23
PTS 10 3 6 3 1 23
CP, HPS3 2 3 7 4 5 21
HJV 3 1 7 7 3 21
CLN5, LOC130009913 1 0 13 3 3 20
GPHN, RDH12, ZFYVE26 2 2 15 1 0 20
HBA1, LOC106804613 2 2 10 1 5 20
IDS 1 0 5 13 1 20
PDHB 0 0 16 1 3 20
RAB23 2 0 5 10 3 20
TSFM 1 1 5 9 4 20
CTSK 3 1 5 7 3 19
LOC122152296, USH2A 2 1 12 1 3 19
MPV17 6 3 3 5 2 19
CDKL5, RS1 2 0 5 7 3 17
CHRNE, LOC130060041 0 0 12 4 1 17
GAMT, LOC130062945 2 0 14 0 1 17
LOC129930446, MMACHC 8 1 5 3 0 17
NPC2 3 1 10 1 2 17
MMAB, MVK 1 1 8 0 6 16
ARSB, LOC129994126 1 1 6 5 2 15
AXDND1, NPHS2 4 0 8 0 3 15
LOC123956210, SLC26A4 5 1 3 3 3 15
ACSF3, LOC125177393 1 1 7 2 3 14
AQP2 1 1 3 7 2 14
CDH23, PSAP 0 0 3 2 9 14
KIRREL2, NPHS1 2 0 3 4 5 14
LOC126806373, NEB 0 0 11 3 0 14
ADA, LOC107303343 2 1 5 2 3 13
AGPS, LOC129935172 0 0 7 4 2 13
CEP290, RLIG1 3 0 10 0 0 13
LOC126860531, NDRG1 0 0 9 2 2 13
NDUFS6 0 0 8 5 0 13
AQP2, AQP5 1 2 4 3 2 12
ACADVL, LOC130060113 1 3 4 2 1 11
GLE1, LOC101929270 0 1 7 3 0 11
LOC126860438, NBN 2 0 7 1 1 11
LOC129992585, SGCB 3 0 8 0 0 11
LOC130057891, MESP2 2 0 6 3 0 11
ACAD9, CFAP92 0 1 4 3 2 10
CPT2, LOC129930561 3 0 6 1 0 10
HGSNAT, LOC130000316 0 0 6 4 0 10
LOC130065433, NDUFAF5 0 0 7 3 0 10
CHRNE, LOC130060040 0 0 9 0 0 9
FAM161A, LOC129933843 0 0 6 2 1 9
LOC129936056, SUMF1 0 0 3 4 2 9
LOC130006596, MED17 0 0 7 0 2 9
LOC130009366, SACS 0 0 6 2 1 9
OPA3 1 0 5 1 2 9
CAPN3, LOC126862115 0 0 6 1 1 8
CERKL, LOC129935215 0 2 4 2 0 8
CFTR, LOC111674463 1 0 3 2 2 8
CFTR, LOC113664106 7 0 1 0 0 8
FANCA, LOC130059837 1 1 6 0 0 8
GCDH, LOC117125594 1 1 2 3 1 8
LOC126861615, PAH 6 1 1 0 0 8
LOC126862361, SLC12A3 3 0 3 0 2 8
AMT, NICN1 1 0 4 2 0 7
CDH23, LOC111982869 0 2 4 0 1 7
CPT1A, LOC126861244 0 0 4 2 1 7
DNAH5, LOC107457585 0 0 6 0 1 7
DNAH5, LOC126807318 0 0 6 0 1 7
ETHE1, LOC130064595 1 0 2 0 4 7
GALT, LOC130001683 2 1 4 0 0 7
LDLRAP1, LOC129929773 2 0 2 2 0 6
LOC113687175, TFR2 1 1 3 1 0 6
LOC129996727, SLC17A5 0 0 4 0 2 6
LOC130056519, TECPR2 0 0 6 0 0 6
LOC130060903, NAGLU 0 0 6 0 0 6
LOC130061271, MKS1 0 0 3 2 1 6
AIRE, LOC130066813 0 0 4 0 1 5
CERKL, LOC129935214 1 0 3 0 1 5
CHM, LOC129391306 0 0 2 1 2 5
COL4A3, LOC129935730 1 0 1 1 2 5
FANCA, LOC132090450 1 0 4 0 0 5
FANCG, VCP 0 0 0 1 4 5
GCDH, LOC126862860, SYCE2 3 0 1 1 0 5
LOC125446261, MLC1 1 1 1 1 1 5
LOC129391064, MAN2B1 3 0 1 1 0 5
LOC130005193, SMPD1 1 0 3 0 1 5
LOC130009240, PUS1 0 0 2 2 1 5
LOC130063650, MAN2B1 0 0 5 0 0 5
RS1 0 0 1 1 3 5
ABCC8, KCNJ11 0 0 0 0 4 4
CEP290, LOC129390514 1 0 3 0 0 4
CYBB, LOC130068093 0 0 1 3 0 4
DYSF, LOC122787137 0 0 3 0 1 4
FAH, LOC112272621 0 1 2 0 1 4
FMR1 0 0 0 1 3 4
GALC, LOC130056217 1 0 1 2 0 4
GBA1 3 0 0 0 1 4
HSD3B2, LOC109029530 1 0 0 3 0 4
IL2RG, LOC126863274 0 0 1 3 0 4
LOC105378311, PCDH15 0 0 3 0 1 4
LOC121815974, OAT 0 1 2 1 0 4
LOC129931648, NTRK1 0 0 4 0 0 4
LOC129998796, PEX1 2 0 1 0 1 4
LOC130055323, SLC7A7 0 0 2 1 1 4
ATP7B, LOC130009838 0 0 2 1 0 3
CAPN3, LOC130056921 2 0 1 0 0 3
CFTR, LOC113633877 1 0 1 1 0 3
CIITA, LOC130058443 0 0 3 0 0 3
COL7A1, MIR711 0 0 2 1 0 3
LOC107882126, TGM1 0 0 2 0 1 3
LOC112136095, MED17 0 0 3 0 0 3
LOC130006765, PTS 1 1 0 1 0 3
LOC132090059, PUS1 0 0 0 0 3 3
ABCB11, LOC126806400 0 0 1 1 0 2
ABCC8, LOC110121471 0 0 2 0 0 2
ACADVL, DLG4 0 1 0 0 1 2
ACYP1, NPC2 0 0 0 0 2 2
ALG11, ATP7B 0 0 1 0 1 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
DBT 0 0 0 0 2 2
DHCR7, NADSYN1 0 0 1 0 1 2
FAH, LOC130057734 0 0 0 0 2 2
GAMT, NDUFS7 0 0 0 0 2 2
GLA, HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 1 2
HBA1, HBA2, LOC106804612 1 0 1 0 0 2
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 1 0 0 2
HSD17B4, LOC129994460 1 0 1 0 0 2
IDS, LOC130068781 0 0 0 2 0 2
INS, TH 0 0 0 0 2 2
LOC126862097, SLC12A6 0 0 1 1 0 2
LOC129388857, LRPPRC 0 0 1 1 0 2
LOC129936949, PDHB 0 0 2 0 0 2
LOC130061900, SGSH 1 0 1 0 0 2
LOC130063376, MCOLN1 0 1 0 1 0 2
LOC130064709, OPA3 0 1 1 0 0 2
LOC130067864, TYMP 1 0 1 0 0 2
SACS, SGCG 0 0 0 0 2 2
SAMHD1, TLDC2 0 0 2 0 0 2
SCO2, TYMP 0 0 0 1 1 2
ACAD9, LOC126806807 0 0 0 1 0 1
ACADVL, DVL2 1 0 0 0 0 1
AGA, AGA-DT 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
CARD14, SGSH 1 0 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CCDC40, GAA 0 0 0 0 1 1
CERKL, ITGA4 0 0 0 1 0 1
CFTR, LOC113633875 0 0 0 0 1 1
CYP19A1, LOC110386951, MIR4713HG, PIRC66 0 0 1 0 0 1
EVC, LOC129992144 0 0 1 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
HPS1, MIR4685 1 0 0 0 0 1
LDLR, MIR6886 0 0 0 0 1 1
LOC129390683, SLC12A6 0 0 1 0 0 1
LOC129930245, PPT1 0 0 1 0 0 1
LOC129933372, MPV17 0 0 1 0 0 1
LOC129938008, MCCC1 0 1 0 0 0 1
LOC129992330, SEPSECS 0 0 0 1 0 1
LOC129998796, PEX1, RBM48 0 0 0 0 1 1
LOC129998833, SLC25A13 0 0 1 0 0 1
LOC130055324, SLC7A7 0 0 1 0 0 1
LOC130067862, TYMP 0 0 0 1 0 1
MRPL36, NDUFS6 0 0 0 1 0 1
RARS2, SLC35A1 0 0 0 0 1 1
SGSH, SLC26A11 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 310
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nemaline myopathy 2 33 16 1012 150 104 1315
Ataxia-telangiectasia syndrome 103 14 1066 47 40 1270
Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 31 8 568 482 66 1155
Usher syndrome type 2A 101 19 535 102 91 848
Primary ciliary dyskinesia 47 14 542 99 103 805
Leber congenital amaurosis 117 26 486 82 45 756
Usher syndrome type 1 17 10 549 78 92 746
CFTR-related disorders 299 20 311 45 14 689
Bloom syndrome 25 14 489 97 24 649
Cohen syndrome 22 11 445 90 70 638
Alstrom syndrome 36 8 423 95 64 626
Autosomal recessive polycystic kidney disease 54 33 265 154 99 605
Fanconi anemia 37 13 425 69 14 558
Usher syndrome type 1B 44 11 404 42 49 550
Autosomal recessive limb-girdle muscular dystrophy type 2B 47 8 336 91 48 530
Zellweger spectrum disorders 38 16 277 71 58 460
Glycogen storage disease, type II 66 8 277 45 20 416
Familial dysautonomia 1 9 284 74 29 397
Charlevoix-Saguenay spastic ataxia 18 3 251 83 32 387
Retinitis pigmentosa 25 27 11 261 45 12 356
Usher syndrome type 1F 7 4 253 44 38 346
Dyskeratosis congenita 2 8 232 62 28 332
Glycogen storage disease type III 29 4 265 12 18 328
Alport syndrome 20 9 153 57 79 318
Wilson disease 69 11 153 37 23 293
Microcephaly, normal intelligence and immunodeficiency 8 9 250 13 11 291
Non-ketotic hyperglycinemia 34 4 175 42 35 290
Ehlers-Danlos syndrome, dermatosparaxis type 1 3 143 63 42 252
Autosomal recessive nonsyndromic hearing loss 77 6 12 144 48 36 246
Congenital myasthenic syndrome 18 9 169 28 22 246
MHC class II deficiency 1 2 162 48 30 243
Familial hypercholesterolemia 43 15 112 57 15 242
Epidermolysis bullosa dystrophica inversa, autosomal recessive 16 3 147 35 24 225
Autosomal recessive limb-girdle muscular dystrophy type 2A 36 5 147 19 16 223
Familial aplasia of the vermis 9 5 177 15 15 221
Cystic fibrosis 39 8 131 23 14 215
Familial Mediterranean fever 9 1 144 35 17 206
Hereditary insensitivity to pain with anhidrosis 8 2 159 19 13 201
Hereditary hyperinsulinism 26 10 109 22 27 194
Mucopolysaccharidosis type 1 45 5 77 33 31 191
Hereditary spastic paraplegia 49 2 1 103 58 26 190
Fanconi anemia complementation group A 19 1 114 16 39 189
Chorea-acanthocytosis 11 5 55 57 58 186
Epidermolysis bullosa dystrophica 26 9 59 55 30 179
Polyglandular autoimmune syndrome, type 1 12 10 109 20 22 173
Phenylketonuria 120 5 29 4 10 168
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 98 55 13 167
Propionic acidemia 28 7 93 22 16 166
Metaphyseal chondrodysplasia, McKusick type 5 25 122 5 7 164
Neuronal ceroid lipofuscinosis 2 17 2 122 5 15 161
Autosomal recessive retinitis pigmentosa 3 0 156 1 0 160
Hermansky-Pudlak syndrome 14 5 72 31 38 160
Metachromatic leukodystrophy 34 3 73 29 19 158
Autosomal recessive DOPA responsive dystonia 7 5 91 34 18 155
Classic homocystinuria 27 1 96 20 8 152
Niemann-Pick disease, type C1 30 10 62 23 26 151
Pendred syndrome 54 8 50 19 19 150
Mucopolysaccharidosis, MPS-III-A 19 3 58 49 19 148
Fumarase deficiency 4 2 128 9 4 147
Familial hypokalemia-hypomagnesemia 49 14 32 22 28 145
Finnish congenital nephrotic syndrome 28 6 48 29 34 145
Smith-Lemli-Opitz syndrome 21 14 58 29 23 145
Very long chain acyl-CoA dehydrogenase deficiency 31 11 77 15 11 145
Muscle eye brain disease 11 3 102 19 9 144
Achromatopsia 14 3 79 24 23 143
Ellis-van Creveld syndrome 15 3 61 32 31 142
Mucolipidosis type II 23 4 77 20 17 141
Glycogen storage disease, type V 17 13 77 16 16 139
Renal carnitine transport defect 29 3 92 10 5 139
Autosomal recessive osteopetrosis 1 9 3 96 17 13 138
Usher syndrome type 1C 7 2 101 7 21 138
Congenital hyperammonemia, type I 4 8 75 21 27 135
beta Thalassemia 76 4 35 11 8 134
Retinitis pigmentosa 20 6 40 26 40 132
Autosomal recessive congenital ichthyosis 1 27 2 53 25 24 131
Carnitine palmitoyltransferase II deficiency 13 4 95 11 8 131
Autosomal recessive limb-girdle muscular dystrophy type 2I 9 3 102 9 7 130
Galactosylceramide beta-galactosidase deficiency 21 8 63 14 20 126
Medium-chain acyl-coenzyme A dehydrogenase deficiency 29 11 53 16 17 126
Chronic granulomatous disease 8 2 72 30 11 123
Bardet-Biedl syndrome 1 10 3 87 9 12 121
Schimke immuno-osseous dysplasia 8 1 66 26 17 118
Deficiency of alpha-mannosidase 17 2 54 19 25 117
Tay-Sachs disease 35 10 48 9 12 114
Histiocytic medullary reticulosis 8 2 72 15 16 113
GNPTG-mucolipidosis 5 2 84 15 6 112
Meckel syndrome, type 1 5 2 84 11 7 109
Walker-Warburg congenital muscular dystrophy 5 2 86 7 9 109
Neuronal ceroid lipofuscinosis 9 2 80 8 8 107
Carnitine palmitoyl transferase 1A deficiency 4 2 71 16 13 106
Galactosemia 35 13 41 8 8 105
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 14 7 58 17 9 105
Mucopolysaccharidosis, MPS-III-C 11 1 69 15 8 104
Autosomal recessive nonsyndromic hearing loss 1A 48 6 31 10 8 103
Corneal dystrophy-perceptive deafness syndrome 8 4 14 41 36 103
Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 44 5 34 7 13 103
Bardet-Biedl syndrome 2 16 3 60 11 11 101
Menkes kinky-hair syndrome 1 0 63 32 4 100
Bardet-Biedl syndrome 12 8 1 53 14 21 97
Citrullinemia type I 22 6 38 19 12 97
Abetalipoproteinaemia 5 2 50 13 25 95
Bardet-Biedl syndrome 10 15 1 54 18 7 95
Late-infantile neuronal ceroid lipofuscinosis 5 3 74 4 9 95
Fanconi anemia complementation group G 13 1 61 12 7 94
Retinitis pigmentosa 26 12 9 54 12 7 94
Cholestanol storage disease 28 1 36 22 6 93
Decreased circulating carnitine concentration 10 1 72 9 1 93
Fanconi anemia complementation group C 0 3 70 19 1 93
Niemann-Pick disease, type A 28 4 14 26 20 92
Retinitis pigmentosa 28 6 1 68 10 7 92
Adrenoleukodystrophy 4 1 37 42 7 91
Deficiency of guanidinoacetate methyltransferase 8 3 68 6 6 91
X-linked Alport syndrome 6 1 14 55 15 91
Mucolipidosis type IV 9 7 19 45 10 90
GNE myopathy 17 5 59 4 4 89
Hypophosphatasia 26 4 32 13 12 87
Autosomal recessive limb-girdle muscular dystrophy type 2D 11 3 59 9 4 86
Agenesis of the corpus callosum with peripheral neuropathy 0 2 62 12 9 85
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1 0 42 32 10 85
Glucose-6-phosphate transport defect 11 1 58 7 8 85
Hereditary acrodermatitis enteropathica 1 1 32 27 23 84
Methylmalonic acidemia 3 0 66 3 12 84
Glutaric aciduria, type 1 32 9 24 12 6 83
Maple syrup urine disease type 1A 13 3 34 16 17 83
Methylcrotonyl-CoA carboxylase deficiency 11 1 61 3 7 83
Athabaskan severe combined immunodeficiency 3 0 66 11 1 81
Argininosuccinate lyase deficiency 24 6 29 13 8 80
Methylcobalamin deficiency type cblE 4 4 29 18 25 80
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 16 6 40 11 7 80
Tyrosinemia type I 13 5 29 19 14 80
Enhanced S-cone syndrome 7 2 55 8 5 77
Hemochromatosis type 3 2 3 25 29 17 76
Progressive familial intrahepatic cholestasis type 2 13 5 22 20 16 76
Lysinuric protein intolerance 5 2 51 11 6 75
Holocarboxylase synthetase deficiency 7 3 37 13 14 74
Mucopolysaccharidosis, MPS-III-B 18 2 26 16 12 74
Glycogen storage disease, type IV 7 5 35 12 14 73
Neuronal ceroid lipofuscinosis 1 7 1 52 4 9 73
Combined malonic and methylmalonic acidemia 3 5 41 15 8 72
Isovaleryl-CoA dehydrogenase deficiency 8 4 36 11 13 72
Charcot-Marie-Tooth disease type 4D 0 0 65 6 0 71
Corticosterone methyl oxidase type II deficiency 5 2 33 15 16 71
Neuronal ceroid lipofuscinosis 8 1 1 59 8 2 71
PMM2-congenital disorder of glycosylation 27 8 20 5 10 70
Plasma factor XI deficiency 13 4 25 17 11 70
Biotinidase deficiency 21 6 25 9 8 69
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 10 6 22 22 9 69
Methylmalonic aciduria, cblB type 7 3 43 7 8 68
Primary hyperoxaluria, type I 22 2 17 14 13 68
Cystinosis 15 1 25 14 11 66
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 29 2 14 13 8 66
Leber congenital amaurosis 5 4 2 46 11 3 66
Autosomal recessive limb-girdle muscular dystrophy type 2C 7 2 42 6 8 65
Congenital neutropenia-myelofibrosis-nephromegaly syndrome 0 0 52 9 3 64
Multiple acyl-CoA dehydrogenase deficiency 7 2 50 4 1 64
3-methylcrotonyl-CoA carboxylase 1 deficiency 6 3 46 6 2 63
Aicardi Goutieres syndrome 4 1 49 9 0 63
Bifunctional peroxisomal enzyme deficiency 5 4 31 9 13 62
Bilateral frontoparietal polymicrogyria 5 0 27 21 9 62
Gaucher disease 32 4 16 4 6 62
Maple syrup urine disease type 1B 16 7 29 5 5 62
Renal tubular acidosis with progressive nerve deafness 8 0 40 4 10 62
Rhizomelic chondrodysplasia punctata 9 0 39 6 8 62
Acyl-CoA dehydrogenase 9 deficiency 3 7 15 23 13 61
Stuve-Wiedemann syndrome 3 2 17 20 17 59
Dystrophin deficiency 6 0 31 11 10 58
Deficiency of acetyl-CoA acetyltransferase 7 3 29 8 10 57
Mucopolysaccharidosis type 6 11 1 25 10 10 57
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 6 7 18 12 12 55
Mitochondrial neurogastrointestinal encephalomyopathy 6 3 27 12 7 55
Ornithine aminotransferase deficiency 9 2 28 13 3 55
Pontocerebellar hypoplasia type 6 1 2 26 15 11 55
Sandhoff disease 7 5 25 5 13 55
Emery-Dreifuss muscular dystrophy 0 0 35 13 6 54
alpha Thalassemia 17 5 20 3 9 54
Lysosomal acid lipase deficiency 11 1 22 12 7 53
Congenital amegakaryocytic thrombocytopenia 7 3 22 13 7 52
Creatine deficiency syndrome 1 0 0 25 23 4 52
Hyperlipoproteinemia, type I 11 4 11 13 13 52
Primary hyperoxaluria, type II 10 3 8 18 13 52
Glycogen storage disease, type VII 3 5 22 12 9 51
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 3 3 15 13 16 50
Aspartylglucosaminuria 3 1 26 13 7 50
Autosomal recessive limb-girdle muscular dystrophy type 2E 6 1 38 3 2 50
Goldmann-Favre syndrome 3 0 29 9 9 50
Megalencephalic leukoencephalopathy with subcortical cysts 6 2 11 14 17 50
Methylmalonic acidemia with homocystinuria cblC 24 2 7 14 3 50
Methylmalonic aciduria, cblA type 8 0 34 4 4 50
Choroideremia 2 0 22 14 11 49
PHGDH deficiency 1 1 20 21 6 49
Primary hyperoxaluria type 3 7 3 26 8 5 49
Spondylocostal dysostosis 2, autosomal recessive 2 0 16 17 14 49
Achondrogenesis, type IB 6 3 21 11 7 48
MPI-congenital disorder of glycosylation 1 3 23 10 11 48
Steroid-resistant nephrotic syndrome 14 2 15 7 9 47
Kostmann syndrome 4 1 28 10 2 45
Multiple sulfatase deficiency 4 4 14 15 8 45
Permanent neonatal diabetes mellitus 0 4 24 9 8 45
Pyruvate dehydrogenase complex deficiency 0 0 25 15 5 45
SchC6pf-Schulz-Passarge syndrome 4 0 22 13 6 45
Aromatase deficiency 2 2 22 8 10 44
Bartter syndrome 2 2 19 19 2 44
Citrullinemia 6 5 20 6 7 44
Fabry disease 5 1 24 9 5 44
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 32 1 11 44
Acyl-CoA oxidase deficiency 0 0 10 20 13 43
Pyruvate dehydrogenase E3 deficiency 2 0 18 13 10 43
3 beta-Hydroxysteroid dehydrogenase deficiency 8 1 3 23 7 42
Cobalamin C disease 9 1 18 12 2 42
3-methylcrotonyl-CoA carboxylase 2 deficiency 7 4 27 2 1 41
Deficiency of galactokinase 4 0 15 17 5 41
Glutaric acidemia type 2C 9 5 23 3 1 41
Neuronal ceroid lipofuscinosis 5 0 0 30 2 9 41
Severe X-linked myotubular myopathy 1 0 13 22 5 41
Spongy degeneration of central nervous system 13 5 13 8 2 41
Hereditary factor IX deficiency disease 3 0 5 25 7 40
Salla disease 8 3 19 1 9 40
Vanishing white matter disease 8 6 7 18 1 40
ALG6-congenital disorder of glycosylation 1C 2 3 11 14 9 39
Hereditary fructosuria 9 3 10 10 7 39
Sanfilippo syndrome 0 2 22 6 9 39
Hyperammonemia, type III 1 2 18 9 8 38
Mitochondrial complex I deficiency 0 2 18 16 2 38
Charcot-Marie-Tooth disease type 4 1 0 25 6 5 37
Deficiency of steroid 17-alpha-monooxygenase 12 4 16 3 2 37
Ornithine carbamoyltransferase deficiency 4 2 12 11 8 37
Pontocerebellar hypoplasia type 2D 0 2 24 3 8 37
X-linked severe combined immunodeficiency 1 0 14 22 0 37
Pontocerebellar hypoplasia type 1A 0 1 29 5 1 36
Sphingomyelin/cholesterol lipidosis 3 1 26 5 1 36
Ethylmalonic encephalopathy 6 2 16 6 5 35
Sjögren-Larsson syndrome 13 0 8 9 4 34
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 3 2 24 1 3 33
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 1 4 16 8 3 32
Joubert syndrome 2 1 1 19 4 7 32
Pituitary hormone deficiency, combined, 2 4 1 9 11 7 32
Charcot-Marie-Tooth disease 5 0 18 5 3 31
Familial isolated deficiency of vitamin E 6 1 17 3 4 31
GRACILE syndrome 5 2 10 7 7 31
Retinitis pigmentosa 59 1 0 25 4 1 31
Microphthalmia 0 1 17 6 6 30
Methylmalonic aciduria and homocystinuria type cblD 2 1 14 4 8 29
Dyskeratosis congenita, autosomal dominant 1 0 0 9 17 1 27
Leigh syndrome 0 1 22 1 3 27
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 11 4 6 4 1 26
Congenital lipoid adrenal hyperplasia due to STAR deficency 9 3 7 5 1 25
Deficiency of hydroxymethylglutaryl-CoA lyase 2 1 14 5 3 25
Nephrogenic diabetes insipidus 2 3 6 10 4 25
Congenital pontocerebellar hypoplasia type 1 1 0 19 2 2 24
Deficiency of hyaluronoglucosaminidase 0 0 13 4 7 24
Hydrolethalus syndrome 1 0 15 4 4 24
Lethal congenital contractural syndrome Finnish type 1 1 5 11 6 24
Hypohidrotic X-linked ectodermal dysplasia 2 1 4 11 5 23
Roberts syndrome 6 1 0 13 3 23
Juvenile retinoschisis 2 0 6 8 6 22
Late-onset citrullinemia 5 0 9 2 6 22
Hemochromatosis type 2A 3 1 7 7 3 21
Autism spectrum disorder - epilepsy - arthrogryposis syndrome 1 0 15 4 0 20
RAB23-related Carpenter syndrome 2 0 5 10 3 20
Roberts-SC phocomelia syndrome 0 1 5 5 9 20
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 3 0 6 3 7 19
Niemann-Pick disease, type C2 3 1 10 1 4 19
Pyknodysostosis 3 1 5 7 3 19
Usher syndrome type 3A 3 1 10 3 2 19
Combined pituitary hormone deficiencies, genetic form 0 0 12 3 3 18
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 1 1 5 8 3 18
Myopathy, lactic acidosis, and sideroblastic anemia 1 0 0 9 6 2 17
Rhizomelic chondrodysplasia punctata type 3 0 0 5 9 3 17
Autosomal dominant Alport syndrome 0 0 4 11 1 16
Glutaric acidemia type 2A 1 0 11 2 2 16
Rhizomelic chondrodysplasia punctata type 1 3 1 10 2 0 16
Usher syndrome type 3 4 0 11 1 0 16
Mucopolysaccharidosis, MPS-II 0 0 0 11 3 14
Myopathy, lactic acidosis, and sideroblastic anemia 0 1 6 4 3 14
Arthrogryposis multiplex congenita 0 0 9 2 2 13
Corticosterone 18-monooxygenase deficiency 0 1 9 3 0 13
Lethal arthrogryposis-anterior horn cell disease syndrome 0 0 12 1 0 13
Generalized dominant dystrophic epidermolysis bullosa 0 0 2 6 4 12
3-Methylglutaconic aciduria type 3 1 1 6 1 2 11
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 3 0 4 3 1 11
Non-acquired combined pituitary hormone deficiency with spine abnormalities 2 1 1 5 1 10
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 3 3 0 2 1 9
Inborn mitochondrial myopathy; Sideroblastic anemia 0 0 0 2 6 8
Familial Mediterranean fever, autosomal dominant 0 0 3 0 4 7
Hereditary disease 0 0 3 2 1 6
Polycystic kidney disease 0 2 1 2 1 6
Fragile X syndrome 0 0 0 1 4 5
Pyruvate dehydrogenase phosphatase deficiency 0 0 3 0 2 5
Neuronal ceroid lipofuscinosis 3 0 0 2 1 1 4
Granulomatous disease, chronic, X-linked 0 0 3 0 0 3
Hereditary sensory and autonomic neuropathy 0 0 0 3 0 3
Recessive dystrophic epidermolysis bullosa 3 0 0 0 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
Hemoglobinopathy 1 0 0 0 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
Tyrosinemia 0 0 0 0 1 1

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