ClinVar Miner

Variants from Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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
187 359 12 0 0 558

Gene and significance breakdown #

Total genes and gene combinations: 342
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCD1, PLXNB3 4 10 0 14
FANCA 6 8 0 14
ABCD1 2 9 1 12
ALPL 3 6 0 9
COL7A1 2 5 0 7
COL17A1 3 3 0 6
FBN1 1 5 0 6
PKD1 1 5 0 6
PTEN 2 4 0 6
COL4A5 3 2 0 5
PKHD1 0 5 0 5
RPGR 3 2 0 5
CDH23 4 0 0 4
COL11A1 1 3 0 4
COL5A1 1 3 0 4
FANCG 4 0 0 4
GCK 1 3 0 4
PAH 1 3 0 4
PROC 1 3 0 4
RYR1 1 3 0 4
SDCCAG8 2 2 0 4
STRC 2 2 0 4
TCIRG1 0 3 1 4
TYR 4 0 0 4
ACADVL 1 2 0 3
AGL 1 2 0 3
BCOR, LOC126863239 1 2 0 3
COL1A1 2 1 0 3
COL4A3, MFF-DT 0 3 0 3
EDA 0 3 0 3
FLNA 1 2 0 3
HDAC8 0 3 0 3
JAG1 1 2 0 3
OCA2 0 3 0 3
OTC 0 3 0 3
STK11 2 0 1 3
SYNJ1 0 3 0 3
TMC1 2 1 0 3
TRPS1 1 2 0 3
TSC2 1 2 0 3
USH2A 1 2 0 3
WFS1 1 2 0 3
ABCA3 0 2 0 2
ABCA4 0 2 0 2
ABCC8 0 2 0 2
ACVRL1 1 1 0 2
ARSB 1 1 0 2
ATL1 1 1 0 2
ATP7B 0 2 0 2
BEST1 0 2 0 2
BRCA2 1 1 0 2
BRIP1 0 2 0 2
CCDC39 1 1 0 2
CCNH, RASA1 1 1 0 2
CENPF 0 2 0 2
CHD7 1 1 0 2
COL2A1 2 0 0 2
COL3A1 1 1 0 2
CPS1 0 2 0 2
CYBB 1 1 0 2
CYP1B1 2 0 0 2
DCC 1 1 0 2
EPHB4 0 2 0 2
EXT2 0 2 0 2
EYS 2 0 0 2
F8 1 1 0 2
F9 0 2 0 2
FANCD2, LOC107303338 0 2 0 2
FECH 1 1 0 2
FOXC2 1 1 0 2
GALNS 1 1 0 2
GNAS 0 2 0 2
GPR143 2 0 0 2
HNF1B 0 2 0 2
HYDIN 0 1 1 2
IDH1 1 0 1 2
ITGB3 0 2 0 2
JMJD8, STUB1 1 1 0 2
KMT2B 0 2 0 2
LAMA3 1 1 0 2
LEMD3 1 1 0 2
MLC1 0 2 0 2
MYO7A 2 0 0 2
NBAS 0 2 0 2
NBEAL2 1 1 0 2
NOTCH3 1 1 0 2
NPC1 0 2 0 2
NR3C2 0 2 0 2
NSD1 1 1 0 2
OTOG 0 2 0 2
PC 0 2 0 2
PHEX, PTCHD1 0 2 0 2
PROM1 0 2 0 2
PUS7 0 0 2 2
RAB28 0 2 0 2
SERAC1 2 0 0 2
SFTPC 1 1 0 2
SLC12A3 2 0 0 2
SPAST 1 1 0 2
SYNE1 1 1 0 2
UMPS 0 0 2 2
VPS13B 0 2 0 2
WT1 1 1 0 2
ABCA2, LOC126860796 0 1 0 1
ABCC6 1 0 0 1
ACADM 0 1 0 1
ACADS 0 1 0 1
ACTA1 0 1 0 1
ADGRV1, LOC129389321 0 1 0 1
ADPRS 0 1 0 1
ANKRD11 1 0 0 1
ANOS1 1 0 0 1
APC 0 1 0 1
APOE 0 1 0 1
AR 0 1 0 1
ARID1B 1 0 0 1
ARX 1 0 0 1
ASL 0 1 0 1
ASS1 0 1 0 1
ATM 1 0 0 1
ATM, C11orf65 0 1 0 1
ATP6V0A4 0 1 0 1
AUH, LOC130002059 1 0 0 1
AXIN2 0 1 0 1
BBS1, ZDHHC24 0 1 0 1
BBS7 1 0 0 1
BMPR2 0 1 0 1
BTD 0 1 0 1
CACNA1A 0 1 0 1
CAPN3 1 0 0 1
CASD1, SGCE 0 1 0 1
CASR 1 0 0 1
CD40LG 0 1 0 1
CDH1 0 1 0 1
CDH23, LOC111982869 0 1 0 1
CEACAM16 0 1 0 1
CEP152 0 1 0 1
CEP290 1 0 0 1
CFTR 0 1 0 1
CHRNA1 1 0 0 1
CLCN1 0 1 0 1
CLCN7 1 0 0 1
CLDN5 0 1 0 1
CLPB 0 1 0 1
CLPB, LOC130006336 0 1 0 1
CNGB3 1 0 0 1
CNOT3 1 0 0 1
COL11A2 0 1 0 1
COL18A1, SLC19A1 1 0 0 1
COL1A2 0 1 0 1
COL4A1 0 1 0 1
COL4A2 0 1 0 1
COL5A2 0 1 0 1
COL6A1 0 1 0 1
COL6A3, LOC122889011 1 0 0 1
COMMD8 0 0 1 1
COMMD8, LOC129992546 0 0 1 1
COMP 0 1 0 1
COQ2 0 1 0 1
CRYBA4, CRYBB1 0 1 0 1
CRYBB2 0 1 0 1
CRYGD, LOC100507443 1 0 0 1
CSF1R 0 1 0 1
CSNK2A1 1 0 0 1
CSPP1 1 0 0 1
CTNS 1 0 0 1
CYP7B1 0 1 0 1
DDX3X 1 0 0 1
DDX41 0 1 0 1
DOCK6 0 1 0 1
DYNC1H1 0 1 0 1
EBF3 1 0 0 1
ECEL1 1 0 0 1
ECM1 1 0 0 1
EFTUD2 0 1 0 1
ELN 1 0 0 1
ENG 0 1 0 1
EPB41 0 1 0 1
EPHB4, LOC126860124 0 1 0 1
ERCC6 1 0 0 1
ESPN 0 1 0 1
EXT1 1 0 0 1
EYA4, TARID 0 1 0 1
F10 0 1 0 1
F13A1 0 1 0 1
FAM161A 0 1 0 1
FANCA, LOC112486223 1 0 0 1
FANCA, LOC112486223, LOC130059839 0 1 0 1
FANCA, LOC130059837 0 1 0 1
FANCD2 0 1 0 1
FBN2 0 1 0 1
FBP1 1 0 0 1
FGFR1 0 1 0 1
FGFR3 0 1 0 1
FLCN 0 1 0 1
FOXF1 1 0 0 1
FRAS1 0 1 0 1
GALC 0 1 0 1
GALE 0 1 0 1
GATA2 0 1 0 1
GATA3 1 0 0 1
GBA1, LOC106627981 0 1 0 1
GCDH, LOC126862860, SYCE2 1 0 0 1
GLB1 1 0 0 1
GLB1, LOC129936434, TMPPE 1 0 0 1
GLI2 1 0 0 1
GLMN 0 1 0 1
GLUD1 1 0 0 1
GPHN, RDH12 0 1 0 1
GPR179 0 1 0 1
GREB1L 0 1 0 1
GUCY2C 0 1 0 1
HMBS 0 1 0 1
IDUA 0 1 0 1
IL7R 0 1 0 1
INF2 0 1 0 1
INPP4A 0 1 0 1
IQSEC2 0 1 0 1
ITGA6, PDK1 1 0 0 1
ITGB2 0 1 0 1
KCNA1 0 1 0 1
KCNH2 1 0 0 1
KIF1C 0 1 0 1
KMT2D, LOC126861520 1 0 0 1
KRIT1 0 1 0 1
KRT1 0 1 0 1
KRT5 0 1 0 1
KRT5, LOC126861526 1 0 0 1
L1CAM 1 0 0 1
LAMA2 0 1 0 1
LAMB2 0 1 0 1
LAMB3 0 1 0 1
LAMC2 0 1 0 1
LARS2 0 1 0 1
LIPA 1 0 0 1
LMX1B 0 1 0 1
LOC100507346, PTCH1 1 0 0 1
LOC126807127, NFKB1 0 1 0 1
LOC126859827, TAB2 0 1 0 1
LOC129994826, PURA 0 1 0 1
LOC130057317, RNU5B-1 0 1 0 1
LRP5 1 0 0 1
LURAP1L, TYRP1 0 1 0 1
LZTR1 0 1 0 1
MAF 0 1 0 1
MCCC2 0 1 0 1
MED12 1 0 0 1
MEN1 1 0 0 1
MFN2 0 1 0 1
MRE11 0 1 0 1
MSH6 1 0 0 1
MTM1 1 0 0 1
MTO1 0 1 0 1
MVP-DT, PRRT2 1 0 0 1
MYH3 0 1 0 1
NAGS 0 1 0 1
NBN 0 1 0 1
NEB, RIF1 1 0 0 1
NF1 0 1 0 1
NFIX 0 1 0 1
NFKB1 0 1 0 1
NKX2-5 0 1 0 1
NPHP4 1 0 0 1
NPHS2 0 1 0 1
NRXN1 1 0 0 1
OFD1 1 0 0 1
OPA1 0 1 0 1
OTOA 0 1 0 1
P3H1 0 1 0 1
PALB2 1 0 0 1
PARN 0 1 0 1
PAX2 0 1 0 1
PCNT 0 1 0 1
PDZD7 0 1 0 1
PEX1 1 0 0 1
PHF6 0 1 0 1
PKLR 0 1 0 1
PNPLA2 1 0 0 1
POLR3B 1 0 0 1
PPOX 0 1 0 1
PROS1 0 1 0 1
PRPF31 0 1 0 1
PRPF8 0 1 0 1
PRPH2 0 1 0 1
PSEN1 0 1 0 1
PYGM 0 1 0 1
RAP1B 0 1 0 1
RBM10 0 1 0 1
RMND1 1 0 0 1
RNU4ATAC 0 1 0 1
RP2 1 0 0 1
RPGRIP1 0 1 0 1
RPS19 1 0 0 1
RPS26 1 0 0 1
RPS6KA3 1 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 1 0 1
RUNX2 1 0 0 1
SALL1 1 0 0 1
SCN11A 0 1 0 1
SCN1A 0 1 0 1
SCN8A 0 1 0 1
SERPINA1 0 1 0 1
SERPINC1 0 1 0 1
SH3TC2 1 0 0 1
SI 0 1 0 1
SKIC2 0 1 0 1
SLC12A1 0 1 0 1
SLC20A2 0 1 0 1
SLC22A5 1 0 0 1
SLC25A15 1 0 0 1
SLC52A3 0 1 0 1
SLC6A1 0 1 0 1
SLX4 0 1 0 1
SON 1 0 0 1
SPG7 0 1 0 1
SPRED1 1 0 0 1
SRD5A2 1 0 0 1
STAT3 1 0 0 1
TAOK1 1 0 0 1
TBCEL-TECTA, TECTA 0 1 0 1
TBCK 1 0 0 1
TCHH 0 1 0 1
TCTN1 0 1 0 1
TERC 0 1 0 1
TERT 0 1 0 1
TGFB2 1 0 0 1
TGFB3 0 1 0 1
TGM5 1 0 0 1
TMEM127 1 0 0 1
TNFAIP3 1 0 0 1
TRAF7 1 0 0 1
TRPM1 0 1 0 1
TSC1 1 0 0 1
TSPAN12 0 1 0 1
TTBK2 1 0 0 1
TUBA1A 0 1 0 1
TUBB 0 1 0 1
TYRP1 0 0 1 1
UROD 0 1 0 1
VCP 0 1 0 1
VRK1 0 1 0 1
VWF 0 1 0 1

Condition and significance breakdown #

Total conditions: 353
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Condition pathogenic likely pathogenic uncertain significance total
Adrenoleukodystrophy 6 19 1 26
Fanconi anemia complementation group A 7 10 0 17
Hypophosphatasia 2 5 0 7
Marfan syndrome 1 5 0 6
Junctional epidermolysis bullosa, non-Herlitz type 3 2 0 5
Polycystic kidney disease 3 with or without polycystic liver disease 1 4 0 5
Recessive dystrophic epidermolysis bullosa 2 3 0 5
X-linked Alport syndrome 3 2 0 5
Autosomal recessive nonsyndromic hearing loss 16 2 2 0 4
Autosomal recessive osteopetrosis 1 0 3 1 4
Central core myopathy 1 3 0 4
Familial cancer of breast 1 3 0 4
Fanconi anemia complementation group G 4 0 0 4
Maturity-onset diabetes of the young type 2 1 3 0 4
Phenylketonuria 1 3 0 4
Thrombophilia due to protein C deficiency, autosomal dominant 1 3 0 4
Autosomal recessive Alport syndrome 0 3 0 3
Capillary malformation-arteriovenous malformation 2 0 3 0 3
Cornelia de Lange syndrome 5 0 3 0 3
Cowden syndrome 1 2 1 0 3
Fanconi anemia complementation group D2 0 3 0 3
Glycogen storage disease type III 1 2 0 3
Hypohidrotic X-linked ectodermal dysplasia 0 3 0 3
Oculocutaneous albinism type 1A 3 0 0 3
Oculofaciocardiodental syndrome 1 2 0 3
Ornithine carbamoyltransferase deficiency 0 3 0 3
Peutz-Jeghers syndrome 2 0 1 3
Polycystic kidney disease 4 0 3 0 3
Retinitis pigmentosa 3 3 0 0 3
Stickler syndrome type 2 1 2 0 3
Trichorhinophalangeal dysplasia type I 1 2 0 3
Tuberous sclerosis 2 1 2 0 3
Tyrosinase-positive oculocutaneous albinism 0 3 0 3
Very long chain acyl-CoA dehydrogenase deficiency 1 2 0 3
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 2 0 0 2
3-methylglutaconic aciduria, type VIIB 0 2 0 2
Acute myeloid leukemia 1 0 1 2
Alagille syndrome due to a JAG1 point mutation 1 1 0 2
Anterior segment dysgenesis 6 2 0 0 2
Autosomal dominant pseudohypoaldosteronism type 1 0 2 0 2
Autosomal recessive ataxia, Beauce type 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 18B 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 7 2 0 0 2
Autosomal recessive polycystic kidney disease 0 2 0 2
Bardet-Biedl syndrome 16 1 1 0 2
CHARGE syndrome 1 1 0 2
Capillary malformation-arteriovenous malformation 1 1 1 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 1 0 2
Cohen syndrome 0 2 0 2
Cone-rod dystrophy 12 0 2 0 2
Cone-rod dystrophy 18 0 2 0 2
Congenital hyperammonemia, type I 0 2 0 2
Dermatofibrosis lenticularis disseminata 1 1 0 2
Distichiasis-lymphedema syndrome 1 1 0 2
Drash syndrome 1 1 0 2
Dyskeratosis congenita, autosomal dominant 1 0 2 0 2
Dystonia 28, childhood-onset 0 2 0 2
Early-onset Parkinson disease 20 0 2 0 2
Ehlers-Danlos syndrome, classic type, 1 0 2 0 2
Ehlers-Danlos syndrome, type 4 1 1 0 2
Epidermolysis bullosa, junctional 4, intermediate 0 2 0 2
Exostoses, multiple, type 2 0 2 0 2
FLNA related lung disease 1 1 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 2 0 2
Familial hypokalemia-hypomagnesemia 2 0 0 2
Generalized dominant dystrophic epidermolysis bullosa 0 2 0 2
Glanzmann thrombasthenia 0 2 0 2
Granulomatous disease, chronic, X-linked 1 1 0 2
Gray platelet syndrome 1 1 0 2
Hereditary factor IX deficiency disease 0 2 0 2
Hereditary factor VIII deficiency disease 1 1 0 2
Hereditary orotic aciduria 0 0 2 2
Hereditary spastic paraplegia 3A 1 1 0 2
Hereditary spastic paraplegia 4 1 1 0 2
Hyperinsulinemic hypoglycemia, familial, 1 0 2 0 2
Immunodeficiency, common variable, 12 0 2 0 2
Infantile GM1 gangliosidosis 2 0 0 2
Infantile hypophosphatasia 1 1 0 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 0 2 2
Interstitial lung disease 2 0 2 0 2
Junctional epidermolysis bullosa 1 1 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 2 0 2
Mirror movements 1 1 1 0 2
Mucopolysaccharidosis type 6 1 1 0 2
Mucopolysaccharidosis, MPS-IV-A 1 1 0 2
Niemann-Pick disease, type C1 0 2 0 2
Oculocutaneous albinism type 3 0 1 1 2
Osteogenesis imperfecta type I 1 1 0 2
PTEN-related disorder 0 2 0 2
Primary ciliary dyskinesia 14 1 1 0 2
Primary ciliary dyskinesia 5 0 1 1 2
Protoporphyria, erythropoietic, 1 1 1 0 2
Pyruvate carboxylase deficiency 0 2 0 2
Renal cysts and diabetes syndrome 0 2 0 2
Retinitis pigmentosa 0 2 0 2
Retinitis pigmentosa 25 2 0 0 2
Senior-Loken syndrome 7 1 1 0 2
Short stature-optic atrophy-Pelger-Huët anomaly syndrome 0 2 0 2
Sotos syndrome 1 1 0 2
Stickler syndrome type 1 2 0 0 2
Stromme syndrome 0 2 0 2
Surfactant metabolism dysfunction, pulmonary, 2 1 1 0 2
Telangiectasia, hereditary hemorrhagic, type 2 1 1 0 2
Ullrich congenital muscular dystrophy 1A 1 1 0 2
Usher syndrome type 1 2 0 0 2
Usher syndrome type 1D 2 0 0 2
Usher syndrome type 2A 0 2 0 2
Vitelliform macular dystrophy 2 0 2 0 2
Wilson disease 0 2 0 2
Wolfram syndrome 1 1 1 0 2
not provided 0 0 2 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 1
3-methylcrotonyl-CoA carboxylase 2 deficiency 0 1 0 1
3-methylglutaconic aciduria type 1 1 0 0 1
Achromatopsia 1 0 0 1
Acral peeling skin syndrome 1 0 0 1
Acute intermittent porphyria 0 1 0 1
Adams-Oliver syndrome 1 0 1 0 1
Alpha-1-antitrypsin deficiency 0 1 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 1
Alzheimer disease 0 1 0 1
Alzheimer disease 3 0 1 0 1
Androgen resistance syndrome 0 1 0 1
Argininosuccinate lyase deficiency 0 1 0 1
Arteriohepatic dysplasia 0 1 0 1
Ataxia-telangiectasia-like disorder 1 0 1 0 1
Autism spectrum disorder 1 0 0 1
Autoinflammatory syndrome, familial, Behcet-like 1 1 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 10 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 12 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 36 0 1 0 1
Autosomal dominant optic atrophy classic form 0 1 0 1
Autosomal recessive distal renal tubular acidosis 0 1 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 12 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 2A 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 1 0 1
Autosomal recessive osteopetrosis 4 1 0 0 1
Autosomal recessive spinocerebellar ataxia 16 1 0 0 1
Bardet-Biedl syndrome 1 0 1 0 1
Bardet-Biedl syndrome 7 1 0 0 1
Bartter disease type 1 0 1 0 1
Biotinidase deficiency 0 1 0 1
Blepharocheilodontic syndrome 1 0 1 0 1
Borjeson-Forssman-Lehmann syndrome 0 1 0 1
Brain small vessel disease 2A, autosomal dominant 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 1
Brown-Vialetto-van Laere syndrome 1 0 1 0 1
CLDN5-related neurodevelopmental disorder 0 1 0 1
Cardiac, facial, and digital anomalies with developmental delay 1 0 0 1
Cataract 17 multiple types 0 1 0 1
Cataract 21 multiple types 0 1 0 1
Cataract 3 multiple types 0 1 0 1
Cataract 4 multiple types 1 0 0 1
Cerebral cavernous malformation 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 0 1 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 1 0 0 1
Citrullinemia type I 0 1 0 1
Cleidocranial dysostosis 1 0 0 1
Cockayne syndrome type 2 1 0 0 1
Coenzyme Q10 deficiency, primary, 1 0 1 0 1
Coffin-Lowry syndrome 1 0 0 1
Coffin-Siris syndrome 1 1 0 0 1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13 0 1 0 1
Combined oxidative phosphorylation defect type 11 1 0 0 1
Cone-rod dystrophy 0 1 0 1
Cone-rod dystrophy 3 0 1 0 1
Congenital contractural arachnodactyly 0 1 0 1
Congenital diarrhea 6 0 1 0 1
Congenital heart defects, multiple types, 2 0 1 0 1
Congenital myopathy 2c, severe infantile, autosomal dominant 0 1 0 1
Congenital myotonia, autosomal dominant form 0 1 0 1
Congenital sensory neuropathy with selective loss of small myelinated fibers 0 1 0 1
Congenital stationary night blindness 1C 0 1 0 1
Congenital stationary night blindness 1E 0 1 0 1
Cowden syndrome 0 1 0 1
Cystic fibrosis 0 1 0 1
DDX41-related hematologic malignancy predisposition syndrome 0 1 0 1
Deafness-lymphedema-leukemia syndrome 0 1 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 1
Diamond-Blackfan anemia 1 1 0 0 1
Diamond-Blackfan anemia 10 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 1
Dyskeratosis congenita, autosomal dominant 2 0 1 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 1
Elliptocytosis 1 0 1 0 1
Epidermolysis bullosa 1 0 0 1
Epidermolysis bullosa simplex 0 1 0 1
Epidermolytic ichthyosis 0 1 0 1
Epilepsy with myoclonic atonic seizures 0 1 0 1
Episodic ataxia type 1 0 1 0 1
Exostoses, multiple, type 1 1 0 0 1
Exudative vitreoretinopathy 4 1 0 0 1
Exudative vitreoretinopathy 5 0 1 0 1
Factor XIII, A subunit, deficiency of 0 1 0 1
Familial hyperinsulinemia 1 0 0 1
Familial hypocalciuric hypercalcemia 1 1 0 0 1
Familial multiple polyposis syndrome 0 1 0 1
Familial porphyria cutanea tarda 0 1 0 1
Fanconi anemia complementation group D1 1 0 0 1
Fanconi anemia complementation group P 0 1 0 1
Fibromuscular dysplasia, multifocal 0 1 0 1
Focal segmental glomerulosclerosis 5 0 1 0 1
Fraser syndrome 1 0 1 0 1
Fructose-biphosphatase deficiency 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 1 0 1
Gaucher disease type I 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 1 0 1
Glomuvenous malformation 0 1 0 1
Glutaric aciduria, type 1 1 0 0 1
Glycogen storage disease, type V 0 1 0 1
Gorlin syndrome 1 0 0 1
Hearing loss, autosomal dominant 37 0 1 0 1
Hearing loss, autosomal recessive 57 0 1 0 1
Hereditary antithrombin deficiency 0 1 0 1
Hereditary breast ovarian cancer syndrome 0 1 0 1
Hereditary diffuse leukoencephalopathy with spheroids 0 1 0 1
Hereditary factor X deficiency disease 0 1 0 1
Hereditary renal cancer 0 1 0 1
Hereditary spastic paraplegia 5A 0 1 0 1
Hereditary spastic paraplegia 7 0 1 0 1
Hereditary von Willebrand disease 0 1 0 1
Heterotopia, periventricular, X-linked dominant 0 1 0 1
Histiocytic medullary reticulosis 0 1 0 1
Hurler syndrome 0 1 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 1 0 0 1
Hyper-IgM syndrome type 1 0 1 0 1
Hyperammonemia, type III 0 1 0 1
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 1 0 0 1
Hypoplastic left heart syndrome 2 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 1 0 0 1
Idiopathic basal ganglia calcification 1 0 1 0 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 0 1 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 1 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 1
Intellectual disability, X-linked 1 0 1 0 1
Intellectual disability, X-linked 102 1 0 0 1
Joubert syndrome 13 0 1 0 1
Joubert syndrome 21 1 0 0 1
Joubert syndrome 5 1 0 0 1
Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 0 1 0 1
Junctional epidermolysis bullosa with pyloric atresia 1 0 0 1
KBG syndrome 1 0 0 1
Kabuki syndrome 1 1 0 0 1
Knobloch syndrome 1 0 0 1
LAMB2-related infantile-onset nephrotic syndrome 0 1 0 1
Leber congenital amaurosis 13 0 1 0 1
Leber congenital amaurosis 6 0 1 0 1
Legius syndrome 1 0 0 1
Lethal multiple pterygium syndrome 1 0 0 1
Leukocyte adhesion deficiency 1 0 1 0 1
Lipid proteinosis 1 0 0 1
Lissencephaly due to TUBA1A mutation 0 1 0 1
Loeys-Dietz syndrome 4 1 0 0 1
Long QT syndrome 2 1 0 0 1
Lynch syndrome 5 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 1
Marshall-Smith syndrome 0 1 0 1
McCune-Albright syndrome 0 1 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 1 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 1
Microcephalic osteodysplastic primordial dwarfism type II 0 1 0 1
Microcephaly 9, primary, autosomal recessive 0 1 0 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 0 1 0 1
Multiple benign circumferential skin creases on limbs 1; Complex cortical dysplasia with other brain malformations 6 0 1 0 1
Multiple endocrine neoplasia, type 1 1 0 0 1
Multiple epiphyseal dysplasia type 1 0 1 0 1
Myoclonic dystonia 11 0 1 0 1
Nail-patella syndrome 0 1 0 1
Nemaline myopathy 2 1 0 0 1
Nephronophthisis 4 1 0 0 1
Nephropathic cystinosis 1 0 0 1
Nephrotic syndrome, type 2 0 1 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 1 0 1
Neurofibromatosis, type 1 0 1 0 1
Neutral lipid storage myopathy 1 0 0 1
Nonsyndromic genetic hearing loss 0 1 0 1
Noonan syndrome 10 0 1 0 1
Nystagmus 6, congenital, X-linked 1 0 0 1
Ocular albinism, type I 1 0 0 1
Oculocutaneous albinism type 1 1 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 1
Oligodontia-cancer predisposition syndrome 0 1 0 1
Orofaciodigital syndrome I 1 0 0 1
Osteodysplastic primordial dwarfism, type 1 0 1 0 1
Osteogenesis imperfecta type 8 0 1 0 1
Osteogenesis imperfecta type III 1 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 1
Paroxysmal nonkinesigenic dyskinesia 1 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 1
Perrault syndrome 4 0 1 0 1
Pheochromocytoma 1 0 0 1
Polycystic kidney disease, adult type 0 1 0 1
Pontocerebellar hypoplasia type 1B 0 1 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 1 0 0 1
Pseudopseudohypoparathyroidism 0 1 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 1 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 1 0 1
Pulmonary hypertension, primary, 1 0 1 0 1
Pyruvate kinase deficiency of red cells 0 1 0 1
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity 0 1 0 1
Renal carnitine transport defect 1 0 0 1
Renal coloboma syndrome 0 1 0 1
Renal hypodysplasia/aplasia 3 0 1 0 1
Retinitis pigmentosa 13 0 1 0 1
Retinitis pigmentosa 19 0 1 0 1
Retinitis pigmentosa 2 1 0 0 1
Retinitis pigmentosa 28 0 1 0 1
Retinitis pigmentosa 39 1 0 0 1
Retinitis pigmentosa 6 0 1 0 1
Rienhoff syndrome 0 1 0 1
See cases 0 1 0 1
Severe X-linked myotubular myopathy 1 0 0 1
Spastic ataxia 2 0 1 0 1
Spinocerebellar ataxia 48 0 1 0 1
Spinocerebellar ataxia type 11 1 0 0 1
Spinocerebellar ataxia type 6 0 1 0 1
Spondylocarpotarsal synostosis syndrome 0 1 0 1
Sucrase-isomaltase deficiency 0 1 0 1
Supravalvar aortic stenosis 1 0 0 1
TARP syndrome 0 1 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 1
Thanatophoric dysplasia 0 1 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 0 1
Townes-Brocks syndrome 1 1 0 0 1
Trichohepatoenteric syndrome 2 0 1 0 1
Tuberous sclerosis 1 1 0 0 1
UDPglucose-4-epimerase deficiency 0 1 0 1
Uncombable hair syndrome 3 0 1 0 1
Usher syndrome type 1D; Autosomal recessive nonsyndromic hearing loss 84A 1 0 0 1
Usher syndrome type 2C 0 1 0 1
Variegate porphyria 0 1 0 1
Wolfram-like syndrome 0 1 0 1
Wolman disease 1 0 0 1
X-linked hydrocephalus syndrome 1 0 0 1
X-linked lissencephaly with abnormal genitalia 1 0 0 1
ZTTK syndrome 1 0 0 1

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