ClinVar Miner

Variants from Counsyl

Location: United States  Primary collection method: clinical testing
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Gene type:
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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
1643 7985 8121 2228 309 1 20286

Gene and significance breakdown #

Total genes and gene combinations: 398
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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 17 112 376 142 0 0 647
BRCA1 99 46 172 132 46 0 495
USH2A 72 169 204 30 0 0 475
CFTR 58 111 182 20 0 0 371
SLC37A4 0 27 187 130 0 0 344
APC 8 20 208 68 5 0 309
ATM 25 141 102 36 5 0 309
VPS13B 4 210 59 20 0 0 293
PKHD1 10 158 98 20 2 0 288
MSH6 17 17 173 69 2 0 278
SACS 8 201 60 3 1 0 273
PCDH15 1 78 177 11 1 0 268
ATP7B 36 137 86 4 0 0 263
MYO7A 28 87 116 13 0 0 244
PALB2 30 42 109 55 3 0 239
PAH 44 112 59 7 0 0 222
MSH2 19 6 136 52 0 0 213
NEB 11 128 66 6 0 0 211
GAA 16 122 49 7 2 0 196
BRIP1 8 33 103 34 11 0 189
SLC26A4 13 88 73 12 0 0 186
DYSF 40 65 56 15 0 0 176
LAMA2 19 74 62 20 0 0 175
ATM, C11orf65 17 77 60 15 3 0 172
ABCC8 8 95 61 2 0 0 166
CHEK2 5 30 100 26 4 0 165
CAPN3 22 81 56 5 0 0 164
MLH1 17 14 79 49 4 0 163
NPC1 12 95 49 5 0 0 161
ACADVL 2 64 46 43 1 0 156
POLE 0 1 63 70 12 0 146
CDH1 4 8 91 41 1 0 145
RET 7 2 84 44 6 0 143
HEXA 4 54 60 23 0 0 141
FANCA 20 73 44 3 0 0 140
NEB, RIF1 7 74 51 7 0 0 139
PMS2 10 10 85 19 13 0 137
LAMA3 3 65 64 2 0 0 134
MUTYH 13 19 67 29 1 0 129
AGL 11 89 21 6 0 0 127
RMRP 2 60 63 1 0 0 126
BLM 5 81 35 4 0 0 125
GJB2 20 54 44 1 0 0 119
BTD 8 50 55 4 0 0 117
GALC 3 64 43 3 0 0 113
USH1C 4 29 64 13 0 0 110
NBN 1 43 49 14 1 0 108
STK11 0 2 54 52 0 0 108
NPHS1 11 57 31 6 1 0 106
COL4A4 3 47 39 15 0 0 104
DHCR7 3 57 41 0 0 0 101
SMPD1 8 59 31 2 0 0 100
TP53 5 10 47 35 3 0 100
IDUA 23 38 35 3 0 0 99
POLD1 0 2 34 57 6 0 99
GLDC 9 39 49 1 0 0 98
ACADM 7 53 33 2 1 0 96
ALPL 4 52 35 3 0 0 94
ARSA 4 66 24 0 0 0 94
F11 4 56 32 2 0 0 94
MMUT 38 37 18 1 0 0 94
GLB1 10 46 34 3 0 0 93
COL4A3, MFF-DT 10 51 26 1 0 0 88
CBS 6 59 20 1 0 0 86
GALT 5 44 32 3 1 0 85
SLC22A5 4 54 26 0 1 0 85
GNE 5 44 35 0 0 0 84
BBS10 7 61 14 0 0 0 82
CPS1 2 35 42 3 0 0 82
PEX1 1 61 17 1 0 0 80
BRCA1, LOC126862571 19 7 39 7 7 0 79
DPYD 1 52 20 5 0 0 78
GCDH 5 42 27 4 0 0 78
XPC 15 33 29 1 0 0 78
EVC 6 35 35 1 0 0 77
RTEL1, RTEL1-TNFRSF6B 1 30 39 5 1 0 76
LAMB3 5 52 16 2 0 0 75
TGM1 14 35 26 0 0 0 75
PCCB 6 36 25 6 0 0 73
ELP1 0 42 24 6 0 0 72
NAGLU 8 37 26 1 0 0 72
ACADS 2 33 36 0 0 0 71
PYGM 7 40 23 1 0 0 71
RAD51D, RAD51L3-RFFL 6 13 22 27 3 0 71
POMGNT1, TSPAN1 5 45 17 2 0 0 69
EVC2 8 42 17 1 0 0 68
TCIRG1 8 32 27 1 0 0 68
ASS1 2 42 21 2 0 0 67
ERCC6 5 37 20 4 0 0 66
PMM2 4 38 22 1 0 0 65
LRPPRC 1 33 25 5 0 0 64
SLC26A2 2 47 14 1 0 0 64
AIRE 8 36 17 2 0 0 63
FKRP 5 30 22 6 0 0 63
MMACHC 14 20 29 0 0 0 63
GNPTAB 16 25 21 0 0 0 62
ZFYVE26 2 38 22 0 0 0 62
BBS2 8 29 21 3 0 0 61
BCKDHB 2 42 15 2 0 0 61
BARD1 2 3 35 14 6 0 60
CPT2 0 43 17 0 0 0 60
HSD17B4 0 37 18 5 0 0 60
MAN2B1 4 43 11 2 0 0 60
TH 2 29 28 1 0 0 60
XPA 4 35 21 0 0 0 60
AOPEP, FANCC 0 37 17 5 0 0 59
ASL 6 25 27 1 0 0 59
RAD51C 9 6 27 13 5 0 59
SDHA 1 5 44 8 1 0 59
SGSH 6 29 23 0 1 0 59
AGXT 9 36 10 2 1 0 58
BCHE 2 39 15 0 1 0 57
CTNS 8 34 13 2 0 0 57
CYP27A1 6 23 27 1 0 0 57
HEXB 3 29 24 1 0 0 57
ALDH3A2 4 45 5 1 0 0 55
BBS12 3 24 28 0 0 0 55
LAMC2 0 46 6 3 0 0 55
TPP1 4 36 11 2 0 0 53
ASPA, SPATA22 0 35 16 0 0 0 51
FAH 3 35 12 1 0 0 51
GRHPR 2 35 12 2 0 0 51
IDUA, SLC26A1 4 6 9 31 0 1 51
PCCA 5 25 18 3 0 0 51
PEX6 6 25 18 2 0 0 51
CDKN2A 3 3 20 19 4 0 49
SGCA 1 30 17 1 0 0 49
PTEN 3 3 19 22 1 0 48
PEX12 4 28 15 0 0 0 47
DNAH5 0 4 22 12 8 0 46
HGD 10 28 8 0 0 0 46
IVD 0 33 12 1 0 0 46
PPT1 0 37 9 0 0 0 46
G6PC1 1 28 12 4 0 0 45
MKS1 1 18 23 3 0 0 45
CFTR, LOC111674472 6 15 23 0 0 0 44
SGCD 1 6 29 6 1 0 43
SLC17A5 4 29 9 1 0 0 43
CNGB3 2 33 7 0 0 0 42
MLC1 2 22 15 2 1 0 42
PEX10 5 21 15 1 0 0 42
PEX7 0 27 14 1 0 0 42
ALMS1, LOC126806252 0 5 27 9 0 0 41
LOXHD1 0 3 18 18 2 0 41
ADA 3 21 16 0 0 0 40
BCKDHA 6 20 14 0 0 0 40
BCS1L 1 25 14 0 0 0 40
CLN3 5 29 4 2 0 0 40
EYS 4 7 25 4 0 0 40
GAREM2, HADHA 0 27 13 0 0 0 40
AMT 2 20 15 2 0 0 39
RAD50 2 6 9 12 10 0 39
ALDOB 2 26 8 2 0 0 38
CYP11B1, LOC106799833 5 19 14 0 0 0 38
NPHS2 6 19 11 2 0 0 38
SLC12A6 0 27 9 2 0 0 38
ALG6 1 17 17 2 0 0 37
GNPTG 3 15 19 0 0 0 37
PTS 5 16 16 0 0 0 37
BMPR1A 0 0 23 13 0 0 36
CPT1A 0 29 6 1 0 0 36
CTSK 0 30 6 0 0 0 36
HGSNAT 5 17 14 0 0 0 36
CLN6 1 14 20 0 0 0 35
KCNJ11 0 10 25 0 0 0 35
DBT 0 13 19 2 0 0 34
FANCA, ZNF276 4 14 15 1 0 0 34
HLCS 3 18 13 0 0 0 34
BBS1, ZDHHC24 3 19 11 0 0 0 33
CLN5 0 22 10 1 0 0 33
FKTN 2 19 12 0 0 0 33
GATAD1, PEX1 0 21 12 0 0 0 33
SMAD4 0 0 17 16 0 0 33
CLRN1 2 13 11 5 1 0 32
ERCC8 3 18 11 0 0 0 32
MPI 0 20 10 1 1 0 32
NR2E3 1 1 16 13 1 0 32
AGA 1 25 3 2 0 0 31
ARG1, MED23 0 12 19 0 0 0 31
GALK1 2 11 17 1 0 0 31
HMGCL 6 15 10 0 0 0 31
MMAA 9 14 8 0 0 0 31
OPA3 0 5 26 0 0 0 31
HADHA 0 21 8 0 0 0 29
HBB, LOC106099062, LOC107133510 14 14 1 0 0 0 29
LIPA 4 14 10 1 0 0 29
PROP1 3 18 7 0 1 0 29
MESP2 0 6 19 2 1 0 28
STAR 3 20 5 0 0 0 28
CLN8 1 19 5 1 1 0 27
HOGA1 1 12 14 0 0 0 27
MRE11 1 2 6 9 9 0 27
SERPINA1 3 17 7 0 0 0 27
MCOLN1 0 19 6 1 0 0 26
VHL 1 0 21 4 0 0 26
DLD 1 19 5 0 0 0 25
SGCB 1 15 8 1 0 0 25
BBS1 1 20 1 2 0 0 24
AXDND1, NPHS2 2 11 9 0 0 0 22
MMAB 1 11 9 1 0 0 22
PC 1 5 15 1 0 0 22
FANCC 1 18 2 0 0 0 21
SGCG 1 17 2 1 0 0 21
TAT 1 12 8 0 0 0 21
TMEM216 1 10 9 1 0 0 21
TTPA 0 13 7 1 0 0 21
RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 20 0 0 0 20
MEN1 0 2 6 9 2 0 19
ACADVL, DLG4 0 3 15 0 0 0 18
LOC130060903, NAGLU 1 7 9 0 0 0 17
ATP6V1B1 1 2 5 4 4 0 16
CFTR, LOC111674475 4 2 9 1 0 0 16
LOC107303340, VHL 0 0 10 6 0 0 16
CFTR, LOC111674477 0 10 4 1 0 0 15
DNAI1 0 1 8 4 2 0 15
LOC126859690, PKHD1 0 8 5 1 1 0 15
PEX2 1 7 7 0 0 0 15
RPE65 2 0 2 9 2 0 15
LOC123956210, SLC26A4 2 5 6 1 0 0 14
MPL 1 0 6 5 2 0 14
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
LOC122152296, USH2A 2 2 8 1 0 0 13
NPC2 2 7 4 0 0 0 13
CFTR, LOC111674463 1 0 10 1 0 0 12
CPT2, LOC129930561 1 8 3 0 0 0 12
CDKL5, RS1 3 8 0 0 0 0 11
GALC, LOC130056217 0 8 2 1 0 0 11
GALT, LOC130001683 0 5 6 0 0 0 11
GCDH, LOC117125594 0 9 2 0 0 0 11
HBB, LOC107133510, LOC110006319 4 6 0 1 0 0 11
LOC129930446, MMACHC 6 3 1 1 0 0 11
GCDH, LOC126862860, SYCE2 0 2 8 0 0 0 10
HYLS1, PUS3 0 0 10 0 0 0 10
LOC130062899, STK11 0 0 5 4 1 0 10
BRCA1, LOC111589215 0 0 5 3 1 0 9
CLN5, LOC130009913 2 5 2 0 0 0 9
ERCC6, ERCC6-PGBD3 0 4 4 1 0 0 9
FANCA, LOC112486223 1 6 2 0 0 0 9
GBE1 2 2 4 1 0 0 9
LOC130063650, MAN2B1 0 2 7 0 0 0 9
SAMD9 0 2 6 1 0 0 9
CDK4 1 0 3 3 1 0 8
CYP21A2 7 1 0 0 0 0 8
GNPTG, LOC130058158 0 1 7 0 0 0 8
LOC126861615, PAH 3 3 2 0 0 0 8
SDHC 0 0 5 3 0 0 8
ACADVL, LOC130060113 0 3 1 3 0 0 7
CDKN2A, LOC130001603 1 0 3 1 2 0 7
DNAI2 1 1 2 2 1 0 7
FAM161A 4 0 2 0 1 0 7
LOC126860438, NBN 0 3 3 1 0 0 7
LOC126862264, MEFV 2 3 1 0 1 0 7
LOC129936244, XPC 0 5 2 0 0 0 7
LOC129998796, PEX1 1 5 1 0 0 0 7
LOC130005193, SMPD1 2 4 1 0 0 0 7
POMGNT1 0 6 0 1 0 0 7
ADA, LOC107303343 1 3 2 0 0 0 6
ADAMTS2 0 4 2 0 0 0 6
AMT, NICN1 0 1 4 1 0 0 6
CFTR, LOC113664106 2 3 1 0 0 0 6
ERCC6, ERCC6-PGBD3, PGBD3 0 0 5 1 0 0 6
FANCA, LOC130059837 1 2 3 0 0 0 6
KIRREL2, NPHS1 0 4 0 2 0 0 6
LOC130057891, MESP2 0 6 0 0 0 0 6
DMD 2 2 1 0 0 0 5
EVC2, LOC126806961 1 2 2 0 0 0 5
G6PD 5 0 0 0 0 0 5
LAMA3, LOC126862707 0 5 0 0 0 0 5
LOC129933707, MSH6 0 1 1 3 0 0 5
LOC129992585, SGCB 0 3 2 0 0 0 5
LOC130009266, POLE 0 0 4 1 0 0 5
LOC130061271, MKS1 0 3 1 1 0 0 5
LOC130067862, SCO2, TYMP 0 2 1 1 1 0 5
NTRK1 0 2 1 1 1 0 5
PHYH 0 2 2 1 0 0 5
TRMU 0 2 2 0 1 0 5
VPS13A 0 0 3 2 0 0 5
BCS1L, LOC129935609 0 0 4 0 0 0 4
CAPN3, LOC126862115 0 2 2 0 0 0 4
CDK4, TSPAN31 0 0 3 0 1 0 4
ERCC8, NDUFAF2 0 0 4 0 0 0 4
GALK1, ITGB4 0 0 4 0 0 0 4
HGSNAT, LOC130000316 0 1 3 0 0 0 4
KLLN, PTEN 0 0 4 0 0 0 4
LOC105378311, PCDH15 0 3 1 0 0 0 4
LOC129994569, MIR3936HG, SLC22A5 0 0 2 0 2 0 4
LOC130064709, OPA3 0 1 3 0 0 0 4
MMAB, MVK 0 2 2 0 0 0 4
SUMF1 0 3 1 0 0 0 4
TECPR2 0 1 2 0 1 0 4
ATP7B, LOC130009838 1 0 2 0 0 0 3
CERKL 0 2 1 0 0 0 3
COL4A3, LOC129935730 0 2 1 0 0 0 3
COL4A5 0 1 2 0 0 0 3
CPT1A, LOC126861244 0 2 1 0 0 0 3
ERCC6, LOC126860933 1 2 0 0 0 0 3
GFM2, HEXB 0 0 3 0 0 0 3
HPS3 0 1 0 1 1 0 3
LAMC2, LOC126805948 0 2 1 0 0 0 3
LOC129388857, LRPPRC 0 2 0 1 0 0 3
LOC130006765, PTS 0 2 1 0 0 0 3
LOC130061900, SGSH 0 2 1 0 0 0 3
LOC132089454, SLC17A5 0 3 0 0 0 0 3
MEFV 0 0 2 1 0 0 3
MTTP 1 1 0 1 0 0 3
OAT 2 0 0 0 1 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
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
ACADVL, DVL2 0 2 0 0 0 0 2
AGA, AGA-DT 0 2 0 0 0 0 2
AIRE, LOC130066813 0 2 0 0 0 0 2
APBB1, SMPD1 2 0 0 0 0 0 2
CAPN3, LOC130056921 0 1 1 0 0 0 2
CDK4, LOC130008148 0 0 2 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
ERCC6, PGBD3 1 1 0 0 0 0 2
EVC, LOC129992144 1 1 0 0 0 0 2
FANCA, LOC132090450 0 2 0 0 0 0 2
GLA, RPL36A-HNRNPH2 1 1 0 0 0 0 2
INSRR, NTRK1 0 0 2 0 0 0 2
LOC126862097, SLC12A6 0 2 0 0 0 0 2
LOC129390683, SLC12A6 0 2 0 0 0 0 2
LOC129390903, RAD51C 0 0 2 0 0 0 2
LOC129391064, MAN2B1 0 2 0 0 0 0 2
LOC130009366, SACS 0 1 0 0 1 0 2
LOC130061310, RAD51C 0 1 0 1 0 0 2
LOC130063376, MCOLN1 1 1 0 0 0 0 2
MUTYH, TOE1 0 0 1 1 0 0 2
PFKM 0 0 1 1 0 0 2
PHGDH 0 0 2 0 0 0 2
AIRE, LOC130066814 0 0 0 1 0 0 1
ARFRP1, RTEL1, RTEL1-TNFRSF6B, TNFRSF6B 0 0 1 0 0 0 1
ARG1 0 1 0 0 0 0 1
ASNS, CZ1P-ASNS 0 1 0 0 0 0 1
ATM, LOC130006700 0 0 1 0 0 0 1
BBS10, OSBPL8 0 1 0 0 0 0 1
CDH1, LOC130059290 0 0 0 0 1 0 1
CTNS, TRPV1 0 0 0 0 1 0 1
CYBA 0 0 0 1 0 0 1
DNAH5, LOC107457585 0 0 1 0 0 0 1
DNAH5, LOC126807318 0 0 0 1 0 0 1
DPYD, LOC129930998 0 1 0 0 0 0 1
DYSF, LOC122787137 0 1 0 0 0 0 1
F2 1 0 0 0 0 0 1
FAH, LOC112272621 0 1 0 0 0 0 1
FANCA, LOC132090445, ZNF276 0 1 0 0 0 0 1
FNDC8, LOC130060715, RAD51D, RAD51L3-RFFL 0 0 1 0 0 0 1
GALE 0 1 0 0 0 0 1
GBA1, LOC106627981 0 1 0 0 0 0 1
GJB6 0 1 0 0 0 0 1
GLA, HNRNPH2, RPL36A-HNRNPH2 0 1 0 0 0 0 1
GLB1, LOC129936434, TMPPE 0 1 0 0 0 0 1
HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, LOC106804612, LOC106804613, LOC130058090, LOC130058091 1 0 0 0 0 0 1
HBA1, HBA2, HBQ1, LOC106804612, LOC106804613, LOC130058090, LOC130058091 1 0 0 0 0 0 1
HBA1, HBA2, LOC106804612, LOC106804613 1 0 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 0 1 0 0 0 0 1
HEXA, LOC130057475 0 1 0 0 0 0 1
HSD17B4, LOC129994460 0 1 0 0 0 0 1
IDS 1 0 0 0 0 0 1
IL2RG 1 0 0 0 0 0 1
KLLN, LOC130004273, PTEN 0 0 0 1 0 0 1
LAMA2, LOC123864065 0 0 1 0 0 0 1
LAMA2, LOC126859784 0 0 1 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
LOC111413029, TAT 0 1 0 0 0 0 1
LOC125446261, MLC1 0 0 1 0 0 0 1
LOC126806373, NEB 0 0 1 0 0 0 1
LOC129930245, PPT1 0 1 0 0 0 0 1
LOC129936056, SUMF1 0 1 0 0 0 0 1
LOC130003374, PHYH 0 0 1 0 0 0 1
LOC130004273, PTEN 0 0 1 0 0 0 1
LOC130006142, PC 0 1 0 0 0 0 1
LOC130060715, RAD51D, RAD51L3-RFFL 0 0 0 0 1 0 1
LOC130063648, MAN2B1 0 1 0 0 0 0 1
LOC130067864, TYMP 1 0 0 0 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
SCO2, TYMP 0 0 1 0 0 0 1
SMN1 1 0 0 0 0 0 1
TMEM43, XPC 0 0 0 0 1 0 1
TYMP 0 0 1 0 0 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: 289
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Condition pathogenic likely pathogenic uncertain significance likely benign benign other total
Breast-ovarian cancer, familial, susceptibility to, 2 140 101 433 189 64 0 927
Alstrom syndrome 17 117 403 151 0 0 688
Breast-ovarian cancer, familial, susceptibility to, 1 118 53 216 142 54 0 583
Ataxia-telangiectasia syndrome 42 218 163 51 8 0 482
Cystic fibrosis 71 141 229 23 0 0 464
Familial cancer of breast 37 75 244 95 13 0 464
Usher syndrome type 2A; Retinitis pigmentosa 39 50 152 211 31 0 0 444
Nemaline myopathy 2 18 202 118 13 0 0 351
Glucose-6-phosphate transport defect 0 27 187 130 0 0 344
Familial adenomatous polyposis 1 8 20 208 68 5 0 309
Autosomal recessive polycystic kidney disease 10 166 103 21 3 0 303
Cohen syndrome 4 210 59 20 0 0 293
Lynch syndrome 5 17 18 174 72 2 0 283
Charlevoix-Saguenay spastic ataxia 8 202 60 3 2 0 275
Junctional epidermolysis bullosa gravis of Herlitz 8 171 87 7 0 0 273
Usher syndrome type 1F 1 81 178 11 1 0 272
Wilson disease 37 137 88 4 0 0 266
Phenylketonuria 47 115 61 7 0 0 230
Autosomal recessive nonsyndromic hearing loss 2; Usher syndrome type 1 22 75 115 13 0 0 225
Lynch syndrome 1 19 6 137 52 0 0 214
Pendred syndrome 15 93 79 13 0 0 200
Glycogen storage disease, type II 16 122 49 7 2 0 196
Autosomal recessive Alport syndrome 13 100 66 16 0 0 195
Fanconi anemia complementation group A 26 98 64 4 0 0 192
Very long chain acyl-CoA dehydrogenase deficiency 2 72 62 46 1 0 183
Autosomal recessive limb-girdle muscular dystrophy type 2B 40 66 56 15 0 0 177
Merosin deficient congenital muscular dystrophy 19 74 64 20 0 0 177
Autosomal recessive limb-girdle muscular dystrophy type 2A 22 84 59 5 0 0 170
Hyperinsulinemic hypoglycemia, familial, 1 8 95 62 3 0 0 168
Colorectal cancer, hereditary nonpolyposis, type 2 17 14 78 49 4 0 162
Niemann-Pick disease, type C1 12 95 49 5 0 0 161
Ellis-van Creveld syndrome 16 80 54 2 0 0 152
Colorectal cancer, susceptibility to, 12 0 1 67 71 12 0 151
Hurler syndrome 27 44 44 34 0 1 150
Hereditary diffuse gastric adenocarcinoma 4 8 91 41 2 0 146
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 7 2 84 45 6 0 144
Non-ketotic hyperglycinemia 11 60 68 4 0 0 143
Tay-Sachs disease 4 55 60 23 0 0 142
Lynch syndrome 4 10 10 85 19 13 0 137
Maple syrup urine disease 8 75 48 4 0 0 135
Familial adenomatous polyposis 2 13 19 68 30 1 0 131
Glycogen storage disease type III 11 89 21 6 0 0 127
Metaphyseal chondrodysplasia, McKusick type 2 60 63 1 0 0 126
Bloom syndrome 5 81 35 4 0 0 125
Galactosylceramide beta-galactosidase deficiency 3 72 45 4 0 0 124
Propionic acidemia 11 61 43 9 0 0 124
Peroxisome biogenesis disorder 1A (Zellweger) 2 86 30 1 0 0 119
Peutz-Jeghers syndrome 0 2 59 56 1 0 118
Biotinidase deficiency 8 50 55 4 0 0 117
Microcephaly, normal intelligence and immunodeficiency 1 46 52 15 1 0 115
Autosomal recessive nonsyndromic hearing loss 1A 14 53 44 1 0 0 112
Finnish congenital nephrotic syndrome 11 61 31 8 1 0 112
Fanconi anemia complementation group J; Neoplasm of ovary 7 26 68 4 0 0 105
Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2 26 63 13 0 0 104
Niemann-Pick disease, type A 6 62 32 2 0 0 102
Smith-Lemli-Opitz syndrome 3 57 41 0 0 0 101
Li-Fraumeni syndrome 1 5 10 47 35 3 0 100
Colorectal cancer, susceptibility to, 10 0 2 34 57 6 0 99
Glutaric aciduria, type 1 5 53 37 4 0 0 99
Dyskeratosis congenita, autosomal recessive 5 1 30 60 5 1 0 97
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 5 49 38 3 1 0 96
Medium-chain acyl-coenzyme A dehydrogenase deficiency 7 53 33 2 1 0 96
Hereditary factor XI deficiency disease 4 56 32 2 0 0 94
Infantile hypophosphatasia 4 52 35 3 0 0 94
Metachromatic leukodystrophy 4 66 24 0 0 0 94
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 38 37 18 1 0 0 94
Mucopolysaccharidosis, MPS-III-B 9 44 35 1 0 0 89
Renal carnitine transport defect 4 54 28 0 3 0 89
Classic homocystinuria 6 59 20 1 0 0 86
Xeroderma pigmentosum, group C 15 38 31 1 1 0 86
Fanconi anemia complementation group J 1 8 35 30 11 0 85
Neoplasm of ovary 1 8 35 30 11 0 85
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 6 41 34 3 0 0 84
GNE myopathy 5 44 35 0 0 0 84
Bardet-Biedl syndrome 10 7 62 14 0 0 0 83
Congenital hyperammonemia, type I 2 35 42 3 0 0 82
Fanconi anemia complementation group C 1 55 19 5 0 0 80
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 4 40 29 6 0 0 79
Dihydropyrimidine dehydrogenase deficiency 1 53 20 5 0 0 79
Autosomal recessive congenital ichthyosis 1 14 36 26 0 0 0 76
Cobalamin C disease 20 23 30 1 0 0 74
Muscle eye brain disease 3 51 17 3 0 0 74
Breast-ovarian cancer, familial, susceptibility to, 4 6 13 23 27 4 0 73
Deficiency of alpha-mannosidase 4 48 18 2 0 0 72
Familial dysautonomia 0 42 24 6 0 0 72
Carnitine palmitoyl transferase II deficiency, severe infantile form 1 50 20 0 0 0 71
Deficiency of butyryl-CoA dehydrogenase 2 33 36 0 0 0 71
Glycogen storage disease, type V 7 40 23 1 0 0 71
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 1 1 40 25 4 0 71
Generalized juvenile polyposis/juvenile polyposis coli 0 0 40 29 0 0 69
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 48 21 0 0 0 69
Autosomal recessive osteopetrosis 1 8 32 27 1 0 0 68
Citrullinemia type I 2 42 21 2 0 0 67
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 1 35 25 6 0 0 67
Polyglandular autoimmune syndrome, type 1 8 38 17 3 0 0 66
PMM2-congenital disorder of glycosylation 4 38 22 1 0 0 65
Autosomal recessive limb-girdle muscular dystrophy type 2I 5 30 22 6 0 0 63
Hereditary spastic paraplegia 15 2 38 22 0 0 0 62
Mucopolysaccharidosis, MPS-III-A 6 31 24 0 1 0 62
Multiple epiphyseal dysplasia type 4 1 46 14 1 0 0 62
Bardet-Biedl syndrome 2 8 29 21 3 0 0 61
Bifunctional peroxisomal enzyme deficiency 0 38 18 5 0 0 61
Autosomal recessive DOPA responsive dystonia 2 29 28 1 0 0 60
Nephrotic syndrome, type 2 8 30 20 2 0 0 60
Paragangliomas 5 1 5 45 8 1 0 60
Sandhoff disease 3 29 27 1 0 0 60
Xeroderma pigmentosum group A 4 35 21 0 0 0 60
Argininosuccinate lyase deficiency 6 25 27 1 0 0 59
Mucolipidosis type II; Pseudo-Hurler polydystrophy 14 23 21 0 0 0 58
Nephropathic cystinosis 8 34 13 2 1 0 58
Primary hyperoxaluria, type I 9 36 10 2 1 0 58
Cholestanol storage disease 6 23 27 1 0 0 57
Deficiency of butyrylcholinesterase 2 39 15 0 1 0 57
Melanoma-pancreatic cancer syndrome 4 3 23 20 6 0 56
Bardet-Biedl syndrome 12 3 24 28 0 0 0 55
Sjögren-Larsson syndrome 4 45 5 1 0 0 55
Cowden syndrome 1 3 3 24 23 1 0 54
Bardet-Biedl syndrome 1 4 35 12 2 0 0 53
Deficiency of steroid 11-beta-monooxygenase 7 27 19 0 0 0 53
Neuronal ceroid lipofuscinosis 2 4 36 11 2 0 0 53
Retinitis pigmentosa 25 4 14 28 7 0 0 53
Tyrosinemia type I 3 36 12 1 0 0 52
Primary hyperoxaluria, type II 2 35 12 2 0 0 51
Spongy degeneration of central nervous system 0 35 16 0 0 0 51
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 30 17 1 0 0 49
Primary ciliary dyskinesia 3 0 4 23 13 8 0 48
Neuronal ceroid lipofuscinosis 1 0 38 9 0 0 0 47
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 3 24 18 2 0 0 47
Alkaptonuria 10 28 8 0 0 0 46
Isovaleryl-CoA dehydrogenase deficiency 0 33 12 1 0 0 46
Salla disease 4 32 9 1 0 0 46
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 4 24 18 0 0 0 46
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 0 18 23 4 0 0 45
GNPTG-mucolipidosis 3 16 26 0 0 0 45
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 28 12 4 0 0 45
Peroxisome biogenesis disorder 1B 2 42 0 0 0 0 44
Peroxisome biogenesis disorder type 3B; Peroxisome biogenesis disorder 3A (Zellweger) 3 26 15 0 0 0 44
Dilated cardiomyopathy 1L; Autosomal recessive limb-girdle muscular dystrophy type 2F 1 6 29 6 1 0 43
Megalencephalic leukoencephalopathy with subcortical cysts 1 2 22 16 2 1 0 43
Nijmegen breakage syndrome-like disorder 2 7 10 13 11 0 43
Retinitis pigmentosa 39 23 19 1 0 0 0 43
Achromatopsia 3 2 33 7 0 0 0 42
Agenesis of the corpus callosum with peripheral neuropathy 0 31 9 2 0 0 42
Neuronal ceroid lipofuscinosis 5 2 27 12 1 0 0 42
Rhizomelic chondrodysplasia punctata type 1 0 27 14 1 0 0 42
Von Hippel-Lindau syndrome 1 0 31 10 0 0 42
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 5 18 18 0 0 0 41
Autosomal recessive nonsyndromic hearing loss 77 0 3 18 18 2 0 41
GRACILE syndrome 0 24 17 0 0 0 41
beta Thalassemia 18 21 1 1 0 0 41
Mucopolysaccharidosis, MPS-III-C 5 18 17 0 0 0 40
Neuronal ceroid lipofuscinosis 3 5 29 4 2 0 0 40
Carnitine palmitoyl transferase 1A deficiency 0 31 7 1 0 0 39
Hereditary fructosuria 2 26 8 2 0 0 38
ALG6-congenital disorder of glycosylation 1C 1 17 17 2 0 0 37
Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 2 19 15 1 0 0 37
Cockayne syndrome type 1 3 18 15 0 0 0 36
Pyknodysostosis 0 30 6 0 0 0 36
3-Methylglutaconic aciduria type 3 0 6 29 0 0 0 35
Ceroid lipofuscinosis, neuronal, 6A 1 14 20 0 0 0 35
Deficiency of galactokinase 2 11 21 1 0 0 35
Holocarboxylase synthetase deficiency 3 18 13 0 0 0 34
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 0 9 25 0 0 0 34
Spondylocostal dysostosis 2, autosomal recessive 0 12 19 2 1 0 34
Aspartylglucosaminuria 1 27 3 2 0 0 33
Breast-ovarian cancer, familial, susceptibility to, 3 3 2 15 9 4 0 33
Fanconi anemia complementation group O 3 2 15 9 4 0 33
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 2 19 12 0 0 0 33
Arginase deficiency 0 13 19 0 0 0 32
Enhanced S-cone syndrome; Retinitis pigmentosa 37 1 1 16 13 1 0 32
MPI-congenital disorder of glycosylation 0 20 10 1 1 0 32
Usher syndrome type 3 2 13 11 5 1 0 32
Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O 6 5 14 5 1 0 31
Deficiency of hydroxymethylglutaryl-CoA lyase 6 15 10 0 0 0 31
Methylmalonic aciduria, cblA type 9 14 8 0 0 0 31
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 18 10 1 0 0 30
Lysosomal acid lipase deficiency 4 14 10 1 0 0 29
Pituitary hormone deficiency, combined, 2 3 18 7 0 1 0 29
Congenital lipoid adrenal hyperplasia due to STAR deficency 3 20 5 0 0 0 28
Mucolipidosis type IV 1 20 6 1 0 0 28
Alpha-1-antitrypsin deficiency 3 17 7 0 0 0 27
Ataxia-telangiectasia-like disorder 1 1 2 6 9 9 0 27
Neuronal ceroid lipofuscinosis 8 1 19 5 1 1 0 27
Primary hyperoxaluria type 3 1 12 14 0 0 0 27
Methylmalonic aciduria, cblB type 1 13 11 1 0 0 26
Atelosteogenesis type II 2 23 0 0 0 0 25
Autosomal dominant nonsyndromic hearing loss 3A 8 17 0 0 0 0 25
Pyruvate dehydrogenase E3 deficiency 1 19 5 0 0 0 25
Achondrogenesis, type IB 1 22 0 0 0 0 23
Diastrophic dysplasia 1 22 0 0 0 0 23
Pyruvate carboxylase deficiency 1 6 15 1 0 0 23
Tyrosinemia type II 1 13 8 0 0 0 22
Autosomal recessive limb-girdle muscular dystrophy type 2C 1 17 2 1 0 0 21
Familial isolated deficiency of vitamin E 0 13 7 1 0 0 21
Multiple endocrine neoplasia, type 1 0 2 6 9 2 0 19
Autosomal recessive nonsyndromic hearing loss 2 5 12 1 0 0 0 18
Carnitine palmitoyl transferase II deficiency, myopathic form 0 18 0 0 0 0 18
Carnitine palmitoyl transferase II deficiency, neonatal form 0 18 0 0 0 0 18
Usher syndrome type 2A 10 7 0 0 0 0 17
Renal tubular acidosis with progressive nerve deafness 1 2 5 4 4 0 16
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
Congenital amegakaryocytic thrombocytopenia 1 0 6 5 2 0 14
Melanoma, cutaneous malignant, susceptibility to, 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
Juvenile retinoschisis