ClinVar Miner

Variants from Myriad Genetics, Inc.

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 total
8939 6290 1235 1848 4396 22708

Gene and significance breakdown #

Total genes and gene combinations: 315
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
APC 1237 82 159 257 1844 3579
ATM 739 161 1 564 1207 2672
ATM, C11orf65 409 152 0 366 631 1558
MSH6 876 103 99 66 68 1212
MSH2 698 185 59 69 44 1055
PALB2 676 75 58 61 68 938
MLH1 628 149 30 56 41 904
BRIP1 394 70 100 11 26 601
CHEK2 312 129 69 31 14 555
PMS2 298 103 70 18 24 513
TP53 156 253 40 5 13 467
PTEN 297 117 12 10 7 443
CDH1 211 71 87 15 19 403
BARD1 280 58 17 25 12 392
AXIN2 38 4 0 34 240 316
BRCA2 190 9 0 66 13 278
MSH3 191 52 0 2 0 245
DNAH5 1 182 0 0 0 183
NEB 3 164 1 0 0 168
RAD51C 80 53 13 12 9 167
RAD51D, RAD51L3-RFFL 75 47 22 10 9 163
LAMA2 1 157 3 0 0 161
BRCA1 69 21 2 45 11 148
SDHA 65 27 30 9 2 133
STK11 29 11 42 20 26 128
CFTR 59 66 0 0 0 125
PKHD1 6 109 2 0 0 117
BMPR1A 56 14 18 11 6 105
ZFYVE26 0 99 1 0 0 100
DYSF 2 92 3 0 0 97
MYO7A 1 85 7 0 0 93
USH2A 7 62 15 0 0 84
COL4A3, MFF-DT 0 78 3 0 0 81
SMAD4 37 11 15 8 8 79
NTHL1 65 12 0 1 0 78
RET 20 5 30 14 9 78
AGL 2 73 0 0 0 75
COL4A4 1 72 2 0 0 75
FLCN 53 13 0 4 3 73
COL4A5 0 70 0 0 0 70
CPS1 0 64 2 0 0 66
GNPTAB 2 64 0 0 0 66
FH 34 30 0 1 0 65
ATP7B 8 49 7 0 0 64
ATP7A 0 61 0 0 0 61
DMD 0 61 0 0 0 61
CTNNA1 51 7 0 2 0 60
GLDC 1 56 3 0 0 60
NPC1 3 54 3 0 0 60
BAP1 42 10 0 4 1 57
ALMS1 0 56 0 0 0 56
LAMB3 4 52 0 0 0 56
LRPPRC 0 54 0 0 0 54
ERCC6 0 49 0 0 0 49
ELP1 1 47 0 0 0 48
MAN2B1 2 46 0 0 0 48
MTTP 0 48 0 0 0 48
PCDH15 1 41 5 0 0 47
SDHB 27 14 5 0 1 47
CDKN2A 5 10 16 5 7 43
EVC 0 42 0 0 0 42
LAMC2 1 41 0 0 0 42
SLC26A4 11 22 9 0 0 42
ABCC8 2 32 7 0 0 41
PAH 19 22 0 0 0 41
HEXA 8 30 2 0 0 40
HLCS 0 39 1 0 0 40
PEX1 2 37 1 0 0 40
EVC2 1 37 1 0 0 39
MEN1 17 6 6 5 4 38
PC 0 38 0 0 0 38
FANCA 1 34 1 0 0 36
BBS2 2 30 3 0 0 35
NEB, RIF1 0 35 0 0 0 35
VPS13B 2 29 2 0 0 33
GAA 5 24 3 0 0 32
MPL 1 31 0 0 0 32
SLC12A6 2 30 0 0 0 32
NPHS1 2 26 3 0 0 31
TSC2 7 6 0 9 9 31
GALT 5 24 1 0 0 30
ACADVL 3 16 10 0 0 29
HPS3 1 28 0 0 0 29
HSD17B4 0 26 2 0 0 28
MMUT 0 27 1 0 0 28
SDHC 14 9 4 1 0 28
SACS 2 24 1 0 0 27
TSC1 14 7 0 4 2 27
HEXB 1 25 0 0 0 26
ASL 4 20 1 0 0 25
HGSNAT 3 19 3 0 0 25
DHCR7 7 17 0 0 0 24
LOXHD1 0 23 1 0 0 24
TGM1 3 19 2 0 0 24
IDUA 2 21 0 0 0 23
MTM1 0 23 0 0 0 23
PFKM 1 22 0 0 0 23
PMM2 8 14 1 0 0 23
ADAMTS2 1 21 0 0 0 22
CBS 4 16 2 0 0 22
GJB2 15 1 6 0 0 22
CAPN3 3 16 2 0 0 21
CYP27A1 4 17 0 0 0 21
DBT 1 20 0 0 0 21
GALC 4 16 1 0 0 21
HBB, LOC106099062, LOC107133510 16 5 0 0 0 21
AGXT 3 16 1 0 0 20
DLD 2 18 0 0 0 20
GNE 5 15 0 0 0 20
LOC129390903, RAD51C 13 4 0 3 0 20
PCCA 0 19 1 0 0 20
PEX6 0 20 0 0 0 20
MKS1 1 18 0 0 0 19
POLD1 0 3 7 8 1 19
POLE 0 0 15 3 1 19
AIRE 3 15 0 0 0 18
ALDH3A2 1 17 0 0 0 18
NBN 0 18 0 0 0 18
TPP1 3 15 0 0 0 18
USH1C 2 14 2 0 0 18
BCKDHA 2 14 1 0 0 17
BCKDHB 0 16 1 0 0 17
BRCA1, LOC126862571 9 0 0 7 1 17
GALK1 0 16 1 0 0 17
ALPL 4 11 1 0 0 16
CNGB3 0 14 2 0 0 16
CPT1A 1 15 0 0 0 16
F11 0 14 2 0 0 16
LIPA 2 14 0 0 0 16
MLC1 1 15 0 0 0 16
POMGNT1, TSPAN1 3 12 1 0 0 16
STAR 1 15 0 0 0 16
ACADM 3 12 0 0 0 15
ADA 1 14 0 0 0 15
ALDOB 3 9 3 0 0 15
ALG6 0 14 1 0 0 15
CYP11B1, LOC106799833 0 14 1 0 0 15
GLB1 0 15 0 0 0 15
LOC107303340, VHL 10 4 0 1 0 15
MUTYH 7 7 0 1 0 15
PEX7 2 13 0 0 0 15
VHL 10 5 0 0 0 15
ARSA 6 8 0 0 0 14
CTSK 0 14 0 0 0 14
FAH 5 9 0 0 0 14
HADHA 0 14 0 0 0 14
IVD 1 12 1 0 0 14
SMPD1 2 8 4 0 0 14
TH 1 13 0 0 0 14
FKTN 1 12 0 0 0 13
GATAD1, PEX1 0 13 0 0 0 13
LOC130062899, STK11 3 0 4 1 5 13
NPC2 0 13 0 0 0 13
SLC17A5 1 12 0 0 0 13
SLC22A5 2 9 2 0 0 13
BBS1, ZDHHC24 1 10 1 0 0 12
CFTR, LOC111674475 9 3 0 0 0 12
ERCC8 1 11 0 0 0 12
GRHPR 1 11 0 0 0 12
LOC122152296, USH2A 0 10 2 0 0 12
TCIRG1 1 10 1 0 0 12
AOPEP, FANCC 1 10 0 0 0 11
ASS1 1 9 1 0 0 11
BCS1L 2 7 2 0 0 11
G6PC1 7 4 0 0 0 11
KIRREL2, NPHS1 1 8 2 0 0 11
MCOLN1 1 10 0 0 0 11
MMAA 1 10 0 0 0 11
PCCB 1 10 0 0 0 11
ACADS 1 9 0 0 0 10
ARG1, MED23 1 9 0 0 0 10
ASPA, SPATA22 4 6 0 0 0 10
BTD 6 2 2 0 0 10
CFTR, LOC111674472 7 3 0 0 0 10
CLN3 0 7 3 0 0 10
DHFR, MSH3 8 0 0 0 2 10
FANCC 2 8 0 0 0 10
GCDH 2 7 1 0 0 10
LOC129933707, MSH6 2 4 1 1 2 10
SGSH 1 8 1 0 0 10
GAREM2, HADHA 1 8 0 0 0 9
HGD 0 9 0 0 0 9
HMGCL 0 7 2 0 0 9
NPHS2 2 6 1 0 0 9
SGCA 1 7 1 0 0 9
ERCC6, PGBD3 0 8 0 0 0 8
LOC126807437, MSH3 8 0 0 0 0 8
LOC126859690, PKHD1 1 7 0 0 0 8
SDHD 7 1 0 0 0 8
ABCD1 0 6 1 0 0 7
CHM 0 7 0 0 0 7
CLN6 1 6 0 0 0 7
CTNS 1 6 0 0 0 7
DNAH5, LOC126807318 0 7 0 0 0 7
GBA1, LOC106627981 4 3 0 0 0 7
GNPTG 0 6 1 0 0 7
MMACHC 1 5 1 0 0 7
NAGLU 0 6 1 0 0 7
OTC 0 7 0 0 0 7
POMGNT1 0 7 0 0 0 7
TAT 0 7 0 0 0 7
BBS1 0 5 1 0 0 6
CDK4 0 0 2 1 3 6
CP, HPS3 0 6 0 0 0 6
CPT2 3 1 2 0 0 6
CYP21A2, LOC106780800 6 0 0 0 0 6
EVC, LOC129992144 0 6 0 0 0 6
EVC2, LOC126806961 0 6 0 0 0 6
IDS, LOC106050102 0 6 0 0 0 6
IL2RG 0 6 0 0 0 6
PEX10 0 6 0 0 0 6
PHYH 0 6 0 0 0 6
PPT1 3 3 0 0 0 6
TTPA 3 3 0 0 0 6
BLM 2 3 0 0 0 5
CDKN2A, LOC130001603 0 0 3 1 1 5
HBB, LOC107133510, LOC110006319 4 1 0 0 0 5
SLC26A2 3 2 0 0 0 5
BBS10 1 0 3 0 0 4
CDK4, TSPAN31 0 0 3 0 1 4
ERCC6, ERCC6-PGBD3 0 4 0 0 0 4
ERCC6, LOC126860933 0 4 0 0 0 4
GCDH, LOC117125594 0 4 0 0 0 4
GLA, RPL36A-HNRNPH2 0 4 0 0 0 4
HOGA1 2 0 2 0 0 4
IDUA, SLC26A1 1 3 0 0 0 4
LAMA2, LOC123864065 0 4 0 0 0 4
LOC123956210, SLC26A4 1 2 1 0 0 4
SGCG 0 3 1 0 0 4
SLC37A4 2 2 0 0 0 4
ADA, LOC107303343 0 3 0 0 0 3
AXDND1, NPHS2 2 1 0 0 0 3
GALT, LOC130001683 0 2 1 0 0 3
IDS 0 3 0 0 0 3
LOC126861339, SDHD 3 0 0 0 0 3
LOC126861615, PAH 2 1 0 0 0 3
LOC129391064, MAN2B1 0 3 0 0 0 3
LOC130061310, RAD51C 0 3 0 0 0 3
MEFV 2 1 0 0 0 3
MMAB 3 0 0 0 0 3
SERPINA1 1 1 1 0 0 3
SGCB 1 2 0 0 0 3
XPC 1 1 1 0 0 3
ACADVL, DVL2 0 2 0 0 0 2
AGA 1 1 0 0 0 2
ALMS1, LOC126806252 0 2 0 0 0 2
APBB1, SMPD1 2 0 0 0 0 2
BCHE 0 1 1 0 0 2
CLN5 1 1 0 0 0 2
CLN8 0 0 2 0 0 2
CLRN1 1 0 1 0 0 2
CPT2, LOC129930561 0 2 0 0 0 2
CYP21A2, LOC106780800, TNXB 2 0 0 0 0 2
FANCA, LOC112486223 2 0 0 0 0 2
FANCA, LOC132090450 1 0 1 0 0 2
FANCA, ZNF276 1 0 1 0 0 2
GBA1 2 0 0 0 0 2
GCDH, LOC126862860, SYCE2 2 0 0 0 0 2
GNPTG, LOC130058158 0 2 0 0 0 2
HFE 2 0 0 0 0 2
LAMA3 1 1 0 0 0 2
LOC111413029, TAT 0 2 0 0 0 2
LOC125446261, MLC1 0 1 1 0 0 2
LOC126862264, MEFV 2 0 0 0 0 2
LOC129929542, SDHB 2 0 0 0 0 2
LOC130063648, MAN2B1 0 2 0 0 0 2
NR2E3 2 0 0 0 0 2
PEX12 2 0 0 0 0 2
PROP1 2 0 0 0 0 2
ABCC8, LOC110121471 0 1 0 0 0 1
ACYP1, NPC2 0 0 1 0 0 1
AMT 1 0 0 0 0 1
AMT, NICN1 0 0 1 0 0 1
ARG1 0 1 0 0 0 1
BAP1, DNAH1 1 0 0 0 0 1
CAPN3, LOC130056921 0 1 0 0 0 1
CARD14, SGSH 1 0 0 0 0 1
CCDC107, RMRP 1 0 0 0 0 1
CDK4, LOC130008148 0 0 1 0 0 1
CDKL5, RS1 1 0 0 0 0 1
CFTR, LOC113633877 1 0 0 0 0 1
CFTR, LOC113664106 1 0 0 0 0 1
DHDDS 1 0 0 0 0 1
DNAH5, LOC107457585 0 1 0 0 0 1
EGFR 0 1 0 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 1
FANCA, LOC130059837 0 1 0 0 0 1
FKRP 1 0 0 0 0 1
GBE1 1 0 0 0 0 1
HBA1, HBA2, LOC106804612 1 0 0 0 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 0 0 1
HOXB13 0 0 0 0 1 1
HSD17B4, LOC129994460 0 1 0 0 0 1
HYLS1, PUS3 1 0 0 0 0 1
LOC126806373, NEB 0 1 0 0 0 1
LOC126860438, NBN 0 1 0 0 0 1
LOC126862097, SLC12A6 0 1 0 0 0 1
LOC129930446, MMACHC 0 1 0 0 0 1
LOC129992585, SGCB 0 1 0 0 0 1
LOC129998796, PEX1 0 1 0 0 0 1
LOC130009366, SACS 0 1 0 0 0 1
LOC130060903, NAGLU 0 1 0 0 0 1
LOC130063376, MCOLN1 0 1 0 0 0 1
LOC132089454, SLC17A5 0 1 0 0 0 1
MET 0 1 0 0 0 1
MIR6753, TCIRG1 0 1 0 0 0 1
MTHFR 1 0 0 0 0 1
OPA3 1 0 0 0 0 1
PEX2 1 0 0 0 0 1
PTS 0 1 0 0 0 1
RS1 0 1 0 0 0 1
SGCD 0 1 0 0 0 1
SGSH, SLC26A11 1 0 0 0 0 1
TMEM216 1 0 0 0 0 1
XPA 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 244
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial cancer of breast 2810 645 245 1058 1958 6716
Familial adenomatous polyposis 1 1237 82 159 257 1844 3579
Lynch syndrome 5 878 107 100 67 70 1222
Lynch syndrome 1 698 185 59 69 44 1055
Colorectal cancer, hereditary nonpolyposis, type 2 628 149 30 56 41 904
Lynch syndrome 4 298 103 70 18 24 513
Li-Fraumeni syndrome 1 156 253 40 5 13 467
Hereditary diffuse gastric adenocarcinoma 262 78 87 17 19 463
Cowden syndrome 1 297 117 12 10 7 443
Oligodontia-cancer predisposition syndrome 38 4 0 34 240 316
Breast-ovarian cancer, familial, susceptibility to, 2 190 9 0 66 13 278
Familial adenomatous polyposis 4 207 52 0 2 2 263
Nemaline myopathy 2 3 200 1 0 0 204
Primary ciliary dyskinesia 3 1 190 0 0 0 191
Breast-ovarian cancer, familial, susceptibility to, 3 93 60 13 15 9 190
Breast-ovarian cancer, familial, susceptibility to, 1 78 21 2 52 12 165
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 1 161 3 0 0 165
Breast-ovarian cancer, familial, susceptibility to, 4 75 47 22 10 9 163
Autosomal recessive Alport syndrome 1 150 5 0 0 156
Cystic fibrosis 77 72 0 0 0 149
Peutz-Jeghers syndrome 32 11 46 21 31 141
Paragangliomas 5 65 27 30 9 2 133
Polycystic kidney disease 4 1 116 2 0 0 119
Juvenile polyposis syndrome 56 14 18 11 6 105
Hereditary spastic paraplegia 15 0 99 1 0 0 100
Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2 92 3 0 0 97
Usher syndrome type 2A 7 72 17 0 0 96
Ellis-van Creveld syndrome 1 91 1 0 0 93
Usher syndrome type 1 1 85 7 0 0 93
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 37 11 15 8 8 79
Familial adenomatous polyposis 3 65 12 0 1 0 78
Multiple endocrine neoplasia type 2A 19 5 30 14 9 77
Glycogen storage disease type III 2 73 0 0 0 75
X-linked Alport syndrome 0 70 0 0 0 70
Congenital hyperammonemia, type I 0 64 2 0 0 66
Junctional epidermolysis bullosa gravis of Herlitz 4 62 0 0 0 66
Cockayne syndrome type 2 0 65 0 0 0 65
Hereditary leiomyomatosis and renal cell cancer 34 30 0 1 0 65
Mucolipidosis type II; Pseudo-Hurler polydystrophy 1 64 0 0 0 65
Wilson disease 8 49 7 0 0 64
Non-ketotic hyperglycinemia 2 56 4 0 0 62
Becker muscular dystrophy; Duchenne muscular dystrophy 0 61 0 0 0 61
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 0 61 0 0 0 61
Birt-Hogg-Dube syndrome 44 11 0 2 3 60
Niemann-Pick disease, type C1 3 54 3 0 0 60
Alstrom syndrome 0 58 0 0 0 58
BAP1-related tumor predisposition syndrome 43 10 0 4 1 58
Maple syrup urine disease 3 50 2 0 0 55
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 0 54 0 0 0 54
Deficiency of alpha-mannosidase 2 51 0 0 0 53
Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B 0 51 1 0 0 52
Paragangliomas 4 29 14 5 0 1 49
Abetalipoproteinaemia 0 48 0 0 0 48
Familial dysautonomia 1 47 0 0 0 48
Melanoma-pancreatic cancer syndrome 5 10 19 6 8 48
Usher syndrome type 1D 1 41 5 0 0 47
Pendred syndrome 12 24 10 0 0 46
Phenylketonuria 21 23 0 0 0 44
Fanconi anemia complementation group A 5 35 3 0 0 43
Finnish congenital nephrotic syndrome 3 34 5 0 0 42
Hyperinsulinemic hypoglycemia, familial, 1 2 33 7 0 0 42
Holocarboxylase synthetase deficiency 0 39 1 0 0 40
Tay-Sachs disease 8 30 2 0 0 40
Multiple endocrine neoplasia, type 1 17 6 6 5 4 38
Pyruvate carboxylase deficiency 0 38 0 0 0 38
Bardet-Biedl syndrome 2 2 30 3 0 0 35
Hermansky-Pudlak syndrome 3 1 34 0 0 0 35
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2 32 0 0 0 34
Agenesis of the corpus callosum with peripheral neuropathy 2 31 0 0 0 33
Cohen syndrome 2 29 2 0 0 33
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 5 26 2 0 0 33
Congenital amegakaryocytic thrombocytopenia 1 31 0 0 0 32
Glycogen storage disease, type II 5 24 3 0 0 32
Propionic acidemia 1 29 1 0 0 31
Tuberous sclerosis 2 7 6 0 9 9 31
Very long chain acyl-CoA dehydrogenase deficiency 3 18 10 0 0 31
Von Hippel-Lindau syndrome 20 9 0 1 0 30
Charlevoix-Saguenay spastic ataxia 2 25 1 0 0 28
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 27 1 0 0 28
Paragangliomas 3 14 9 4 1 0 28
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 25 2 0 0 27
Tuberous sclerosis 1 14 7 0 4 2 27
beta Thalassemia 21 6 0 0 0 27
Sandhoff disease 1 25 0 0 0 26
Argininosuccinate lyase deficiency 4 20 1 0 0 25
Mucopolysaccharidosis, MPS-I-H/S 1 24 0 0 0 25
Mucopolysaccharidosis, MPS-III-C 3 19 3 0 0 25
Autosomal recessive congenital ichthyosis 1 3 19 2 0 0 24
Autosomal recessive nonsyndromic hearing loss 77 0 23 1 0 0 24
Smith-Lemli-Opitz syndrome 7 17 0 0 0 24
Glycogen storage disease, type VII 1 22 0 0 0 23
PMM2-congenital disorder of glycosylation 8 14 1 0 0 23
Severe X-linked myotubular myopathy 0 23 0 0 0 23
Autosomal recessive limb-girdle muscular dystrophy type 2A 3 17 2 0 0 22
Autosomal recessive nonsyndromic hearing loss 1A 15 1 6 0 0 22
Classic homocystinuria 4 16 2 0 0 22
Ehlers-Danlos syndrome, dermatosparaxis type 1 21 0 0 0 22
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 22 0 0 0 22
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2 19 1 0 0 22
Cholestanol storage disease 4 17 0 0 0 21
Fanconi anemia complementation group C 3 18 0 0 0 21
Galactosylceramide beta-galactosidase deficiency 4 16 1 0 0 21
GNE myopathy 5 15 0 0 0 20
Peroxisome biogenesis disorder 4A (Zellweger) 0 20 0 0 0 20
Primary hyperoxaluria, type I 3 16 1 0 0 20
Pyruvate dehydrogenase E3 deficiency 2 18 0 0 0 20
Colorectal cancer, susceptibility to, 10 0 3 7 8 1 19
Colorectal cancer, susceptibility to, 12 0 0 15 3 1 19
Microcephaly, normal intelligence and immunodeficiency 0 19 0 0 0 19
Bardet-Biedl syndrome 1 1 15 2 0 0 18
Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 0 18 0 0 0 18
Megalencephalic leukoencephalopathy with subcortical cysts 1 1 16 1 0 0 18
Neuronal ceroid lipofuscinosis 2 3 15 0 0 0 18
Polyglandular autoimmune syndrome, type 1 3 15 0 0 0 18
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 1 17 0 0 0 18
Sjögren-Larsson syndrome 1 17 0 0 0 18
Usher syndrome type 1C 2 14 2 0 0 18
Deficiency of galactokinase 0 16 1 0 0 17
Achromatopsia 3 0 14 2 0 0 16
Carnitine palmitoyl transferase 1A deficiency 1 15 0 0 0 16
Congenital lipoid adrenal hyperplasia due to STAR deficency 1 15 0 0 0 16
Glutaric aciduria, type 1 4 11 1 0 0 16
Hereditary factor XI deficiency disease 0 14 2 0 0 16
Lysosomal acid lipase deficiency 2 14 0 0 0 16
ALG6-congenital disorder of glycosylation 1C 0 14 1 0 0 15
Deficiency of steroid 11-beta-monooxygenase 0 14 1 0 0 15
Familial adenomatous polyposis 2 7 7 0 1 0 15
GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis 0 15 0 0 0 15
Hereditary fructosuria 3 9 3 0 0 15
Medium-chain acyl-coenzyme A dehydrogenase deficiency 3 12 0 0 0 15
Rhizomelic chondrodysplasia punctata type 1 2 13 0 0 0 15
Autosomal recessive DOPA responsive dystonia 1 13 0 0 0 14
Isovaleryl-CoA dehydrogenase deficiency 1 12 1 0 0 14
Metachromatic leukodystrophy 6 8 0 0 0 14
Niemann-Pick disease, type C2 0 13 1 0 0 14
Pyknodysostosis 0 14 0 0 0 14
Tyrosinemia type I 5 9 0 0 0 14
Adult hypophosphatasia; Childhood hypophosphatasia; Infantile hypophosphatasia 2 10 1 0 0 13
Autosomal recessive osteopetrosis 1 1 11 1 0 0 13
Birt-Hogg-Dube syndrome 1 9 2 0 2 0 13
Cockayne syndrome type 1 2 11 0 0 0 13
Renal carnitine transport defect 2 9 2 0 0 13
Sialic acid storage disease, severe infantile type; Salla disease 0 13 0 0 0 13
Mucolipidosis type IV 1 11 0 0 0 12
Mucopolysaccharidosis, MPS-III-A 3 8 1 0 0 12
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 0 12 0 0 0 12
Nephrotic syndrome, type 2 4 7 1 0 0 12
Niemann-Pick disease, type B; Niemann-Pick disease, type A 0 8 4 0 0 12
Primary hyperoxaluria, type II 1 11 0 0 0 12
Arginase deficiency 1 10 0 0 0 11
Citrullinemia type I 1 9 1 0 0 11
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 7 4 0 0 0 11
Melanoma, cutaneous malignant, susceptibility to, 3 0 0 6 1 4 11
Methylmalonic aciduria, cblA type 1 10 0 0 0 11
Paragangliomas 1 10 1 0 0 0 11
Biotinidase deficiency 6 2 2 0 0 10
Deficiency of butyryl-CoA dehydrogenase 1 9 0 0 0 10
Neuronal ceroid lipofuscinosis 3 0 7 3 0 0 10
Spongy degeneration of central nervous system 4 6 0 0 0 10
Alkaptonuria 0 9 0 0 0 9
Autosomal recessive limb-girdle muscular dystrophy type 2D 1 7 1 0 0 9
Deficiency of hydroxymethylglutaryl-CoA lyase 0 7 2 0 0 9
GNPTG-mucolipidosis 0 8 1 0 0 9
Gaucher disease type I 6 3 0 0 0 9
Mucopolysaccharidosis, MPS-II 0 9 0 0 0 9
Pili torti-deafness syndrome; GRACILE syndrome; Mitochondrial complex III deficiency nuclear type 1 0 7 2 0 0 9
Tyrosinemia type II 0 9 0 0 0 9
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 8 0 0 0 0 8
Cobalamin C disease 1 6 1 0 0 8
Mucopolysaccharidosis, MPS-III-B 0 7 1 0 0 8
Adrenoleukodystrophy 0 6 1 0 0 7
Choroideremia 0 7 0 0 0 7
Ornithine carbamoyltransferase deficiency 0 7 0 0 0 7
Autosomal recessive polycystic kidney disease 6 0 0 0 0 6
Familial isolated deficiency of vitamin E 3 3 0 0 0 6
Neuronal ceroid lipofuscinosis 1 3 3 0 0 0 6
Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B 0 6 0 0 0 6
Phytanic acid storage disease 0 6 0 0 0 6
X-linked severe combined immunodeficiency 0 6 0 0 0 6
Bloom syndrome 2 3 0 0 0 5
Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form 0 3 2 0 0 5
Familial Mediterranean fever 4 1 0 0 0 5
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 0 5 0 0 0 5
3MC syndrome 2 3 1 0 0 0 4
Achondrogenesis, type IB 3 1 0 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2C 0 3 1 0 0 4
Autosomal recessive limb-girdle muscular dystrophy type 2E 1 3 0 0 0 4
Bardet-Biedl syndrome 10 1 0 3 0 0 4
Ceroid lipofuscinosis, neuronal, 6A; Ceroid lipofuscinosis, neuronal, 6B (Kufs type) 1 3 0 0 0 4
Diastrophic dysplasia 3 1 0 0 0 4
Fabry disease 0 4 0 0 0 4
Glucose-6-phosphate transport defect 2 2 0 0 0 4
Multiple epiphyseal dysplasia type 4 3 1 0 0 0 4
Niemann-Pick disease, type A 4 0 0 0 0 4
Primary hyperoxaluria type 3 2 0 2 0 0 4
Alpha-1-antitrypsin deficiency 1 1 1 0 0 3
Carnitine palmitoyl transferase II deficiency, severe infantile form 3 0 0 0 0 3
Ceroid lipofuscinosis, neuronal, 6A; Adult neuronal ceroid lipofuscinosis 0 3 0 0 0 3
Infantile hypophosphatasia 2 1 0 0 0 3
Methylmalonic aciduria, cblB type 3 0 0 0 0 3
Xeroderma pigmentosum, group C 1 1 1 0 0 3
Aspartylglucosaminuria 1 1 0 0 0 2
Bifunctional peroxisomal enzyme deficiency 0 2 0 0 0 2
Deficiency of butyrylcholinesterase 0 1 1 0 0 2
GRACILE syndrome 2 0 0 0 0 2
Hemochromatosis type 1 2 0 0 0 0 2
Hurler syndrome 2 0 0 0 0 2
Juvenile retinoschisis 1 1 0 0 0 2
Nephropathic cystinosis 1 1 0 0 0 2
Neuronal ceroid lipofuscinosis 5 1 1 0 0 0 2
Neuronal ceroid lipofuscinosis 8 0 0 2 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 0 2
Peroxisome biogenesis disorder 3A (Zellweger) 2 0 0 0 0 2
Pituitary hormone deficiency, combined, 2 2 0 0 0 0 2
3-Methylglutaconic aciduria type 3 1 0 0 0 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 0 1 0 0 0 1
Achondrogenesis, type IB; Atelosteogenesis type II; Diastrophic dysplasia 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2F 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 0 1
Enhanced S-cone syndrome 1 0 0 0 0 1
Enhanced S-cone syndrome; Retinitis pigmentosa 37 1 0 0 0 0 1
Glycogen storage disease, type IV 1 0 0 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 0 0 0 0 1
Hydrolethalus syndrome 1 1 0 0 0 0 1
Joubert syndrome 2 1 0 0 0 0 1
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 0 0 0 0 1
Lung cancer 0 1 0 0 0 1
Meckel syndrome, type 1 1 0 0 0 0 1
Metaphyseal chondrodysplasia, McKusick type 1 0 0 0 0 1
Multiple endocrine neoplasia type 2B 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 1 0 0 0 0 1
Papillary renal cell carcinoma type 1 0 1 0 0 0 1
Peroxisome biogenesis disorder 1B 1 0 0 0 0 1
Peroxisome biogenesis disorder 5A (Zellweger) 1 0 0 0 0 1
Peroxisome biogenesis disorder type 3B 1 0 0 0 0 1
Prostate cancer, hereditary, 9 0 0 0 0 1 1
Pseudo-Hurler polydystrophy 1 0 0 0 0 1
Retinitis pigmentosa 59 1 0 0 0 0 1
Salla disease 1 0 0 0 0 1
Usher syndrome type 3 1 0 0 0 0 1
Usher syndrome type 3A 0 0 1 0 0 1
Xeroderma pigmentosum group A 1 0 0 0 0 1
alpha Thalassemia 1 0 0 0 0 1

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