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:
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
170 299 6 0 0 475

Gene and significance breakdown #

Total genes and gene combinations: 296
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
ABCD1 6 17 1 24
FANCA 5 8 0 13
ALPL 3 6 0 9
COL7A1 2 4 0 6
FBN1 1 5 0 6
PKD1 1 5 0 6
PTEN 2 4 0 6
COL17A1 3 2 0 5
COL4A5 3 2 0 5
RPGR 3 2 0 5
CDH23 4 0 0 4
COL11A1 1 3 0 4
FANCG 4 0 0 4
GCK 1 3 0 4
PKHD1 0 4 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
COL4A3, MFF-DT 0 3 0 3
PAH 1 2 0 3
SYNJ1 0 3 0 3
TMC1 2 1 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
ARSB 1 1 0 2
ATL1 1 1 0 2
BCOR, LOC126863239 1 1 0 2
BEST1 0 2 0 2
BRCA2 1 1 0 2
CCDC39 1 1 0 2
CENPF 0 2 0 2
CHD7 1 1 0 2
COL1A1 1 1 0 2
COL2A1 2 0 0 2
COL3A1 1 1 0 2
CPS1 0 2 0 2
CYP1B1 2 0 0 2
EDA 0 2 0 2
EPHB4 0 2 0 2
EYS 2 0 0 2
F8 1 1 0 2
FECH 1 1 0 2
FLNA 1 1 0 2
FOXC2 1 1 0 2
GALNS 1 1 0 2
GNAS 0 2 0 2
GPR143 2 0 0 2
HDAC8 0 2 0 2
HNF1B 0 2 0 2
IDH1 1 0 1 2
ITGB3 0 2 0 2
JAG1 1 1 0 2
JMJD8, STUB1 1 1 0 2
LEMD3 1 1 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
OCA2 0 2 0 2
OTC 0 2 0 2
OTOG 0 2 0 2
PHEX, PTCHD1 0 2 0 2
PROM1 0 2 0 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
TRPS1 1 1 0 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
ACVRL1 1 0 0 1
ADGRV1, LOC129389321 0 1 0 1
ADPRS 0 0 1 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
ATP7B 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
BRIP1 0 1 0 1
BTD 0 1 0 1
CAPN3 1 0 0 1
CASD1, SGCE 0 1 0 1
CCNH, RASA1 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
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
COL5A1 1 0 0 1
COL5A2 0 1 0 1
COL6A1 0 1 0 1
COL6A3, LOC122889011 1 0 0 1
COMP 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
CSPP1 1 0 0 1
CTNS 1 0 0 1
CYBB 0 1 0 1
DCC 0 1 0 1
DDX3X 1 0 0 1
DOCK6 0 1 0 1
DYNC1H1 0 1 0 1
EBF3 1 0 0 1
ECEL1 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
EXT2 0 1 0 1
EYA4, TARID 0 1 0 1
F10 0 1 0 1
F9 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
FANCD2, LOC107303338 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
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
KCNH2 1 0 0 1
KMT2B 0 1 0 1
KMT2D, LOC126861520 1 0 0 1
KRT1 0 1 0 1
KRT5 0 1 0 1
KRT5, LOC126861526 1 0 0 1
LAMA2 0 1 0 1
LAMA3 1 0 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
LOC129994826, PURA 0 1 0 1
LRP5 1 0 0 1
LURAP1L, TYRP1 0 1 0 1
LZTR1 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
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
NPHP4 1 0 0 1
NPHS2 0 1 0 1
NRXN1 1 0 0 1
NSD1 0 1 0 1
OFD1 1 0 0 1
OPA1 0 1 0 1
OTOA 0 1 0 1
P3H1 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
PNPLA2 1 0 0 1
POLR3B 1 0 0 1
PPOX 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
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
SERPINC1 0 1 0 1
SH3TC2 1 0 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
STK11 0 0 1 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
TMEM127 1 0 0 1
TNFAIP3 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
VCP 0 1 0 1
VRK1 0 1 0 1
VWF 0 1 0 1

Condition and significance breakdown #

Total conditions: 305
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Adrenoleukodystrophy 6 17 1 24
Fanconi anemia complementation group A 6 10 0 16
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
Fanconi anemia complementation group G 4 0 0 4
Maturity-onset diabetes of the young type 2 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
Cowden syndrome 1 2 1 0 3
Familial cancer of breast 1 2 0 3
Glycogen storage disease type III 1 2 0 3
Phenylketonuria 1 2 0 3
Retinitis pigmentosa 3 3 0 0 3
Stickler syndrome type 2 1 2 0 3
Tuberous sclerosis 2 1 2 0 3
Tyrosinase-negative oculocutaneous albinism 3 0 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
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 association 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
Cornelia de Lange syndrome 5 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
Early-onset Parkinson disease 20 0 2 0 2
Ehlers-Danlos syndrome, type 4 1 1 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
Fanconi anemia complementation group D2 0 2 0 2
Glanzmann thrombasthenia 0 2 0 2
Gray platelet syndrome 1 1 0 2
Hereditary factor VIII deficiency disease 1 1 0 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
Hypohidrotic X-linked ectodermal dysplasia 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
Interstitial lung disease 2 0 2 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
Oculofaciocardiodental syndrome 1 1 0 2
Ornithine carbamoyltransferase deficiency 0 2 0 2
Osteogenesis imperfecta type I 1 1 0 2
PTEN-related disorder 0 2 0 2
Polycystic kidney disease 4 0 2 0 2
Primary ciliary dyskinesia 14 1 1 0 2
Protoporphyria, erythropoietic, 1 1 1 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-HuC+t anomaly syndrome 0 2 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
Trichorhinophalangeal dysplasia type I 1 1 0 2
Tyrosinase-positive oculocutaneous albinism 0 2 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
Wolfram syndrome 1 1 1 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 1
3-methylglutaconic aciduria type 1 1 0 0 1
Achromatopsia 1 0 0 1
Acute intermittent porphyria 0 1 0 1
Adams-Oliver syndrome 1 0 1 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 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
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 1
Brown-Vialetto-van Laere syndrome 1 0 1 0 1
Bullous ichthyosiform erythroderma 0 1 0 1
CLDN5-related neurodevelopmental disorder 0 1 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 1
Cataract 17 multiple types 0 1 0 1
Cataract 3 multiple types 0 1 0 1
Cataract 4 multiple types 1 0 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
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 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
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
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
Dystonia 28, childhood-onset 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
Epidermolysis bullosa, junctional 4, intermediate 0 1 0 1
Exostoses, multiple, type 2 0 1 0 1
Exudative vitreoretinopathy 4 1 0 0 1
Exudative vitreoretinopathy 5 0 1 0 1
Familial hyperinsulinemia 1 0 0 1
Familial multiple polyposis syndrome 0 1 0 1
Fanconi anemia complementation group D1 1 0 0 1
Fanconi anemia complementation group P 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 dominant dystrophic epidermolysis bullosa 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
Granulomatous disease, chronic, X-linked 0 1 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 IX deficiency disease 0 1 0 1
Hereditary factor X deficiency disease 0 1 0 1
Hereditary renal cancer 0 1 0 1
Hereditary spastic paraplegia 7 0 1 0 1
Hereditary von Willebrand disease 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
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 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
Leukocyte adhesion deficiency 1 0 1 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
Mirror movements 1 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
Myoclonic-astatic epilepsy 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 0 1 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
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, 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
Peutz-Jeghers syndrome 0 0 1 1
Pheochromocytoma 1 0 0 1
Polycystic kidney disease, adult type 0 1 0 1
Pontocerebellar hypoplasia type 1B 0 1 0 1
Porencephaly 2 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
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
See cases 0 1 0 1
Severe X-linked myotubular myopathy 1 0 0 1
Sotos syndrome 0 1 0 1
Spinocerebellar ataxia 48 0 1 0 1
Spinocerebellar ataxia type 11 1 0 0 1
Spondylocarpotarsal synostosis syndrome 0 1 0 1
Supravalvar aortic stenosis 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 1
Telangiectasia, hereditary hemorrhagic, type 2 1 0 0 1
Thanatophoric dysplasia 0 1 0 1
Townes-Brocks syndrome 1 1 0 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
Wilson disease 0 1 0 1
Wolfram-like syndrome 0 1 0 1
Wolman disease 1 0 0 1
X-linked lissencephaly with abnormal genitalia 1 0 0 1
ZTTK syndrome 1 0 0 1

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