ClinVar Miner

Variants from OLLIN Analises Genomicas, OLLIN

Location: Brazil  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
156 115 130 0 0 401

Gene and significance breakdown #

Total genes and gene combinations: 322
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 5 0 1 6
NF1 4 2 0 6
PAH 5 1 0 6
ABCA4 4 0 0 4
KMT2A 1 2 1 4
MYBPC3 3 1 0 4
PKD1 1 0 3 4
TTN 2 1 1 4
ABCB4 0 2 1 3
ATP7B 1 2 0 3
BRCA1 3 0 0 3
CPLANE1 3 0 0 3
NIPBL 1 0 2 3
ABCC6 2 0 0 2
ALDH5A1 2 0 0 2
ANO5 1 1 0 2
ARID1A 0 1 1 2
BARD1 1 0 1 2
BCS1L 1 1 0 2
BRCA1, LOC126862571 2 0 0 2
CACNA1G 0 0 2 2
CFTR 2 0 0 2
CHEK2 0 1 1 2
CIC 0 2 0 2
CREBBP 0 2 0 2
CUL7 1 1 0 2
DHCR7 2 0 0 2
DNAH5 2 0 0 2
DUOX2 2 0 0 2
FBN1 0 1 1 2
GALC 1 1 0 2
HFE 2 0 0 2
KMT2D 0 0 2 2
KMT2E 0 0 2 2
MMACHC 1 1 0 2
MSH3 0 1 1 2
MYO7A 1 1 0 2
NOTCH3 0 0 2 2
NPHS2 0 0 2 2
PCDH19 0 1 1 2
PHKA2 0 0 2 2
PKHD1 2 0 0 2
PUS7 0 2 0 2
RYR1 0 1 1 2
SCN5A 1 1 0 2
SCN8A 0 1 1 2
SERPINA1 1 1 0 2
SETD5 1 1 0 2
TNFRSF13B 1 0 1 2
TRIO 0 0 2 2
TRIP12 0 0 2 2
ZEB2 0 1 1 2
ABCA3 1 0 0 1
ABCD1, PLXNB3 1 0 0 1
ACADM 0 1 0 1
ACADVL 0 1 0 1
ACTG2 1 0 0 1
ADGRG1 1 0 0 1
ADK 0 0 1 1
AGPAT2 1 0 0 1
AHDC1 1 0 0 1
ALMS1 1 0 0 1
ALPL 1 0 0 1
AMT 1 0 0 1
ANKH, LOC100130744, OTULIN 1 0 0 1
ANKRD11, TRAPPC2L 0 1 0 1
ANO10 0 1 0 1
AP4B1 1 0 0 1
AP4S1 1 0 0 1
APOE 0 1 0 1
ARFGEF1 0 0 1 1
ARID1B, LOC115308161 0 0 1 1
ARSA 0 0 1 1
ATP13A2 0 1 0 1
ATP1A2 0 0 1 1
ATP2B1 0 0 1 1
ATP6V1A 0 0 1 1
ATP9A, LOC121853013 0 0 1 1
AURKC 0 1 0 1
AUTS2 0 0 1 1
AVIL 0 0 1 1
AVPR2 1 0 0 1
B4GALNT1 1 0 0 1
BAP1 0 0 1 1
BBS1 0 1 0 1
BCHE 1 0 0 1
BLOC1S1-RDH5, RDH5 0 0 1 1
BRIP1 0 0 1 1
BTD 1 0 0 1
C1R 0 0 1 1
C1orf105, PIGC 0 1 0 1
CACNA1D 0 0 1 1
CAMTA1 0 0 1 1
CAPN3 0 1 0 1
CC2D1A 0 1 0 1
CCDC40 0 1 0 1
CD3G, LOC126861358 1 0 0 1
CDH23 0 1 0 1
CDKL5 0 1 0 1
CDKN2A 0 0 1 1
CEP83 0 1 0 1
CERKL 1 0 0 1
CERKL, LOC129935214 1 0 0 1
CETP 0 1 0 1
CFAP300 1 0 0 1
CHD1 0 0 1 1
CHD2 0 0 1 1
CHD4 0 1 0 1
CHD5 0 0 1 1
CHD8 0 0 1 1
CHRNA1 0 1 0 1
CHST14 0 1 0 1
CLCN1 1 0 0 1
CLCN4 0 0 1 1
CLCN6 0 0 1 1
CNGA3 1 0 0 1
COL11A2 0 0 1 1
COL13A1 0 1 0 1
COL18A1, SLC19A1 0 1 0 1
COL1A2 0 0 1 1
COL4A2 0 0 1 1
COL4A5 0 1 0 1
COL7A1 0 1 0 1
COLQ 1 0 0 1
CPT2 0 1 0 1
CSNK2A1 1 0 0 1
CSPP1 1 0 0 1
CTCF 0 0 1 1
CTSA 1 0 0 1
CYBB 0 0 1 1
CYLD, NOD2 1 0 0 1
CYP21A2, LOC106780800 1 0 0 1
DBNL, LOC129998343, PGAM2 1 0 0 1
DCN 0 1 0 1
DICER1 0 0 1 1
DNM1 0 0 1 1
DPH1 0 1 0 1
DSC2 0 1 0 1
DSG2 0 1 0 1
EARS2 0 0 1 1
EP300 0 0 1 1
EP300, LOC126863158 0 0 1 1
EPS8L2, LOC130005080 1 0 0 1
ERCC8 0 1 0 1
EXOSC9 1 0 0 1
EYS 1 0 0 1
F8 1 0 0 1
FANCA, ZNF276 1 0 0 1
FBN2 0 0 1 1
FBXO11 0 0 1 1
FECH 1 0 0 1
FGF12 1 0 0 1
FGFR2 0 0 1 1
FGFR3 1 0 0 1
FH 0 1 0 1
FLNB 1 0 0 1
FN1, LOC126806499 0 0 1 1
FPGT-TNNI3K, TNNI3K 0 0 1 1
FZD5 0 0 1 1
GABBR1 0 0 1 1
GALT 1 0 0 1
GAMT 1 0 0 1
GCDH 1 0 0 1
GCK 0 0 1 1
GDF5 0 1 0 1
GFAP, LOC130060994 1 0 0 1
GH-LCR, SCN4A 1 0 0 1
GIGYF2 0 0 1 1
GLI3 0 1 0 1
GLRB 1 0 0 1
GLUD1 1 0 0 1
GNE 0 1 0 1
GNG12, WLS 0 0 1 1
GRIA1 0 0 1 1
HBB, LOC106099062, LOC107133510 1 0 0 1
HDAC8 0 1 0 1
HEXA 1 0 0 1
HINT1 0 1 0 1
HNRNPU 0 1 0 1
HOGA1 1 0 0 1
HSD17B4 0 1 0 1
HUWE1 0 0 1 1
IARS1 0 1 0 1
IDUA 1 0 0 1
INTS11 0 0 1 1
JMJD8, STUB1 0 1 0 1
KANK2 0 0 1 1
KARS1 0 0 1 1
KCNA2 0 0 1 1
KCNMA1 0 0 1 1
KCNV2 1 0 0 1
KIAA0586 1 0 0 1
KMT2B 0 0 1 1
KMT2C 0 0 1 1
LAMA2 0 1 0 1
LDLR 0 1 0 1
LIPA 1 0 0 1
LOC126807619, NSD1 0 1 0 1
LOC126861896, MYH6 0 0 1 1
LZTR1 0 1 0 1
MAP1B 0 0 1 1
MAP2K1 0 1 0 1
MAPK1 0 0 1 1
MECOM 0 1 0 1
MECP2 1 0 0 1
MED13 0 0 1 1
MED16 0 0 1 1
MEI1 0 1 0 1
MHRT, MYH7 0 1 0 1
MITF 0 1 0 1
MMUT 1 0 0 1
MPI 0 0 1 1
MPL 1 0 0 1
MSH6 0 0 1 1
MT-ND1 1 0 0 1
MTO1 1 0 0 1
MTOR 0 0 1 1
MUTYH 0 1 0 1
MVK 1 0 0 1
MVP-DT, PRRT2 0 0 1 1
MYO5B 1 0 0 1
NARS1 0 1 0 1
NDUFS8 0 0 1 1
NEDD4L 0 0 1 1
NOTCH1 0 0 1 1
NTHL1, TSC2 1 0 0 1
OBSL1 1 0 0 1
OCA2 1 0 0 1
PACS2 1 0 0 1
PANK2 0 1 0 1
PAPSS2 1 0 0 1
PCLO 0 0 1 1
PDE6C 0 1 0 1
PDX1 1 0 0 1
PEPD 1 0 0 1
PGAP3 0 0 1 1
PIGT 1 0 0 1
PITRM1 1 0 0 1
PJVK 0 1 0 1
PKLR 1 0 0 1
PLXNA1 0 1 0 1
PNPLA1 0 1 0 1
POC1B, POC1B-DUSP6 0 0 1 1
POLR1B 0 0 1 1
POLR1C 1 0 0 1
POLR3B, RFX4 0 1 0 1
POLRMT 0 1 0 1
POT1 0 0 1 1
PRKN 1 0 0 1
PROK2 1 0 0 1
PROP1 1 0 0 1
PSMD12 0 1 0 1
PYGM 1 0 0 1
RAB32 0 0 1 1
RAB3GAP1 1 0 0 1
RABL3 0 0 1 1
RAD51C 0 0 1 1
RAG2 1 0 0 1
RARS2 0 1 0 1
RB1 0 1 0 1
RELN 0 1 0 1
RERE 0 0 1 1
RGS9 1 0 0 1
RHBDF2 0 0 1 1
RMRP 1 0 0 1
RNASEH2B 0 0 1 1
RORA 0 1 0 1
SCYL1 0 0 1 1
SEMA6B 0 0 1 1
SETBP1 0 0 1 1
SETD1A 0 1 0 1
SETX 0 1 0 1
SHH 0 0 1 1
SLC22A5 1 0 0 1
SLC26A2 1 0 0 1
SLC26A3 0 0 1 1
SLC3A1 1 0 0 1
SLC40A1 0 0 1 1
SLC6A1 0 0 1 1
SLC6A2 0 0 1 1
SLC6A8 0 1 0 1
SMAD3 0 0 1 1
SMC3 0 0 1 1
SMO 0 0 1 1
SMS 0 1 0 1
SON 1 0 0 1
SORD 1 0 0 1
SOS1 0 0 1 1
SPG7 1 0 0 1
SQSTM1 0 1 0 1
SRPK3 0 0 1 1
STRA6 0 1 0 1
SUPT16H 0 0 1 1
SYNE1 0 0 1 1
SYNGAP1 0 0 1 1
TACR3 1 0 0 1
TAPBPL, VAMP1 0 0 1 1
TBX1 0 0 1 1
TCIRG1 1 0 0 1
TELO2 0 1 0 1
TGM5 1 0 0 1
THRB 0 1 0 1
TK2 0 1 0 1
TNNI3 0 0 1 1
TNXB 0 1 0 1
TPP1 1 0 0 1
TRAF7 0 1 0 1
TRAPPC4 1 0 0 1
TRIM37 0 1 0 1
TRIT1 1 0 0 1
TSEN2 0 1 0 1
TUBGCP6 0 1 0 1
UBAP2L 0 0 1 1
USH2A 1 0 0 1
VARS2 0 1 0 1
VCAN 0 1 0 1
VPS33B 0 1 0 1
WDR11 1 0 0 1
WDR19 0 1 0 1
WNK1 1 0 0 1
WRN 0 1 0 1
YY1 1 0 0 1

Condition and significance breakdown #

Total conditions: 322
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Condition pathogenic likely pathogenic uncertain significance total
Neurofibromatosis, type 1 4 2 0 6
Phenylketonuria 5 1 0 6
Breast-ovarian cancer, familial, susceptibility to, 1 5 0 0 5
Breast-ovarian cancer, familial, susceptibility to, 2 4 0 1 5
Familial cancer of breast 2 0 2 4
Hypertrophic cardiomyopathy 4 3 1 0 4
Polycystic kidney disease, adult type 1 0 3 4
Wiedemann-Steiner syndrome 1 2 1 4
Cornelia de Lange syndrome 1 1 0 2 3
Dilated cardiomyopathy 1G 2 1 0 3
Joubert syndrome 17 3 0 0 3
Severe early-childhood-onset retinal dystrophy 3 0 0 3
Wilson disease 1 2 0 3
3M syndrome 1 1 1 0 2
Alpha-1-antitrypsin deficiency 1 1 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 1 0 2
Brugada syndrome 1 1 1 0 2
CHEK2-related cancer predisposition 0 1 1 2
Clark-Baraitser syndrome 0 0 2 2
Cobalamin C disease 1 1 0 2
Cystic fibrosis 2 0 0 2
Developmental and epileptic encephalopathy, 9 0 1 1 2
Familial adenomatous polyposis 2 0 1 1 2
Familial adenomatous polyposis 4 0 1 1 2
Galactosylceramide beta-galactosidase deficiency 1 1 0 2
Glycogen storage disease IXa1 0 0 2 2
Hemochromatosis type 1 2 0 0 2
Hereditary spastic paraplegia 52 1 1 0 2
Immunodeficiency, common variable, 2 1 0 1 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 2 0 2
Intellectual disability, autosomal dominant 14 0 1 1 2
Intellectual disability, autosomal dominant 45 0 2 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 0 2
Kabuki syndrome 1 0 0 2 2
Lateral meningocele syndrome 0 0 2 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 1 1 2
Malignant hyperthermia, susceptibility to, 1 0 1 1 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 2 2
Mitochondrial complex III deficiency nuclear type 1 1 1 0 2
Mowat-Wilson syndrome 0 1 1 2
Nephrotic syndrome, type 2 0 0 2 2
O'Donnell-Luria-Rodan syndrome 0 0 2 2
Polycystic kidney disease 4 2 0 0 2
Primary ciliary dyskinesia 3 2 0 0 2
Progressive familial intrahepatic cholestasis type 3 0 2 0 2
Retinitis pigmentosa 26 2 0 0 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 2 2
Smith-Lemli-Opitz syndrome 2 0 0 2
Spinocerebellar ataxia type 42 0 0 2 2
Succinate-semialdehyde dehydrogenase deficiency 2 0 0 2
Thyroid dyshormonogenesis 6 2 0 0 2
Usher syndrome type 1 1 1 0 2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 0 0 1
3M syndrome 2 1 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 1
Achondroplasia 1 0 0 1
Achromatopsia 2 1 0 0 1
Acral peeling skin syndrome 1 0 0 1
Acromicric dysplasia 0 0 1 1
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 0 0 1 1
Adams-Oliver syndrome 5 0 0 1 1
Adenosine kinase deficiency 0 0 1 1
Adrenoleukodystrophy 1 0 0 1
Aicardi-Goutieres syndrome 2 0 0 1 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 1
Alexander disease 1 0 0 1
Alstrom syndrome 1 0 0 1
Alzheimer disease 2 0 1 0 1
Anauxetic dysplasia 1 1 0 0 1
Aneurysm-osteoarthritis syndrome 0 0 1 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 1
Arthrogryposis, renal dysfunction, and cholestasis 1 0 1 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 0 1 1
Autism, susceptibility to, X-linked 3 1 0 0 1
Autosomal recessive ataxia, Beauce type 0 0 1 1
Autosomal recessive axonal neuropathy with neuromyotonia 0 1 0 1
Autosomal recessive congenital ichthyosis 10 0 1 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 1 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 59 0 1 0 1
Autosomal recessive osteopetrosis 1 1 0 0 1
Autosomal recessive spastic paraplegia type 78 0 1 0 1
Autosomal recessive spinocerebellar ataxia 10 0 1 0 1
Bardet-Biedl syndrome 1 0 1 0 1
Bilateral frontoparietal polymicrogyria 1 0 0 1
Biotinidase deficiency 1 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 1
Breast-ovarian cancer, familial, susceptibility to, 3 0 0 1 1
CTCF-related neurodevelopmental disorder 0 0 1 1
Cardiac conduction disease with or without dilated cardiomyopathy 1 0 0 1 1
Cardiac, facial, and digital anomalies with developmental delay 0 1 0 1
Cardiofaciocutaneous syndrome 3 0 1 0 1
Carnitine palmitoyl transferase II deficiency, neonatal form 0 1 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 1 0 1
Ciliary dyskinesia, primary, 38 1 0 0 1
Cockayne syndrome type 1 0 1 0 1
Coffin-Siris syndrome 1 0 0 1 1
Cognitive impairment with or without cerebellar ataxia 0 0 1 1
Combined deficiency of sialidase AND beta galactosidase 1 0 0 1
Combined immunodeficiency due to CD3gamma deficiency 1 0 0 1
Combined oxidative phosphorylation defect type 20 0 1 0 1
Combined oxidative phosphorylation deficiency 35 1 0 0 1
Combined oxidative phosphorylation deficiency 55 0 1 0 1
Cone dystrophy 4 0 1 0 1
Cone dystrophy with supernormal rod response 1 0 0 1
Cone-rod dystrophy 20 0 0 1 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital generalized lipodystrophy type 1 1 0 0 1
Congenital hypothalamic hamartoma syndrome 0 0 1 1
Congenital microvillous atrophy 1 0 0 1
Congenital myasthenic syndrome 19 0 1 0 1
Congenital myasthenic syndrome 5 1 0 0 1
Congenital myotonia, autosomal recessive form 1 0 0 1
Congenital secretory diarrhea, chloride type 0 0 1 1
Congenital stromal corneal dystrophy 0 1 0 1
Cornelia de Lange syndrome 3 0 0 1 1
Cornelia de Lange syndrome 5 0 1 0 1
Craniometaphyseal dysplasia, autosomal dominant 1 0 0 1
Creatine transporter deficiency 0 1 0 1
Crouzon syndrome 0 0 1 1
Cystinuria 1 0 0 1
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 0 0 1
Deficiency of butyrylcholinesterase 1 0 0 1
Deficiency of guanidinoacetate methyltransferase 1 0 0 1
Developmental and epileptic encephalopathy 93 0 0 1 1
Developmental and epileptic encephalopathy 94 0 0 1 1
Developmental and epileptic encephalopathy 98 0 0 1 1
Developmental and epileptic encephalopathy, 13 0 1 0 1
Developmental and epileptic encephalopathy, 2 0 1 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 1
Developmental and epileptic encephalopathy, 32 0 0 1 1
Developmental and epileptic encephalopathy, 47 1 0 0 1
Developmental and epileptic encephalopathy, 54 0 1 0 1
Developmental and epileptic encephalopathy, 66 1 0 0 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 1
Dilated cardiomyopathy 1FF 0 0 1 1
Dilated cardiomyopathy 1S 0 1 0 1
Dworschak-Punetha neurodevelopmental syndrome 0 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 0 1
Ehlers-Danlos syndrome, musculocontractural type 1 0 1 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 1
Epilepsy with myoclonic atonic seizures 0 0 1 1
Epilepsy, progressive myoclonic, 11 0 0 1 1
Episodic kinesigenic dyskinesia 1 0 0 1 1
Familial adenomatous polyposis 3 1 0 0 1
Familial temporal lobe epilepsy 7 0 1 0 1
Fanconi anemia complementation group A 1 0 0 1
Fibrochondrogenesis 2 0 0 1 1
Fumarase deficiency 0 1 0 1
Gabriele de Vries syndrome 1 0 0 1
Glutaric aciduria, type 1 1 0 0 1
Glycine encephalopathy 2 1 0 0 1
Glycogen storage disease type X 1 0 0 1
Glycogen storage disease, type V 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 16 0 1 0 1
Granulomatous disease, chronic, X-linked 0 0 1 1
Grebe syndrome 0 1 0 1
Greig cephalopolysyndactyly syndrome 0 1 0 1
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 1 0 1
Guillouet-Gordon syndrome 0 0 1 1
Hb SS disease 1 0 0 1
Hearing loss, autosomal recessive 106 1 0 0 1
Hemochromatosis type 4 0 0 1 1
Hereditary factor VIII deficiency disease 1 0 0 1
Hereditary spastic paraplegia 26 1 0 0 1
Hereditary spastic paraplegia 47 1 0 0 1
Hereditary spastic paraplegia 7 1 0 0 1
Histiocytic medullary reticulosis 1 0 0 1
Holoprosencephaly 3 0 0 1 1
Hurler syndrome 1 0 0 1
Hydatidiform mole, recurrent, 3 0 1 0 1
Hypercholesterolemia, familial, 1 0 1 0 1
Hyperekplexia 2 1 0 0 1
Hyperinsulinism-hyperammonemia syndrome 1 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 0 1 1
Hypertrophic cardiomyopathy 14 0 0 1 1
Hypogonadotropic hypogonadism 11 with or without anosmia 1 0 0 1
Hypogonadotropic hypogonadism 4 with or without anosmia 1 0 0 1
Hypomyelinating leukodystrophy 11 1 0 0 1
Infantile hypophosphatasia 1 0 0 1
Infertility associated with multi-tailed spermatozoa and excessive DNA 0 1 0 1
Inflammatory bowel disease 1 1 0 0 1
Intellectual developmental disorder 61 0 0 1 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 1
Intellectual developmental disorder, X-linked 114 0 0 1 1
Intellectual developmental disorder, autosomal dominant 66 0 0 1 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 1
Intellectual developmental disorder, autosomal recessive 78 1 0 0 1
Intellectual disability, X-linked 49 0 0 1 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 1
Intellectual disability, autosomal dominant 29 0 0 1 1
Intellectual disability, autosomal dominant 5 0 0 1 1
Intellectual disability, autosomal recessive 3 0 1 0 1
Interstitial lung disease due to ABCA3 deficiency 1 0 0 1
Joubert syndrome 21 1 0 0 1
Joubert syndrome 23 1 0 0 1
KBG syndrome 0 1 0 1
Kabuki syndrome 2 1 0 0 1
Kleefstra syndrome 2 0 0 1 1
Knobloch syndrome 1 0 1 0 1
Kury-Isidor syndrome 0 0 1 1
Larsen syndrome 1 0 0 1
Leber optic atrophy 1 0 0 1
Leukoencephalopathy, progressive, infantile-onset, with or without deafness 0 0 1 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 0 0 1 1
Liang-Wang syndrome 0 0 1 1
Long QT syndrome 2 1 0 0 1
Low phospholipid associated cholelithiasis 0 0 1 1
Lynch syndrome 5 0 0 1 1
MPI-congenital disorder of glycosylation 0 0 1 1
Marfan syndrome 0 1 0 1
Matthew-Wood syndrome 0 1 0 1
Maturity-onset diabetes of the young type 2 0 0 1 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 0 1 0 1
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 1 0 0 1
Melanoma and neural system tumor syndrome 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 8 0 1 0 1
Menke-Hennekam syndrome 1 0 1 0 1
Metachromatic leukodystrophy 0 0 1 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 0 1
Mevalonic aciduria 1 0 0 1
Microcephaly and chorioretinopathy 1 0 1 0 1
Microphthalmia/coloboma 11 0 0 1 1
Mitochondrial DNA depletion syndrome, myopathic form 0 1 0 1
Mitochondrial complex I deficiency, nuclear type 2 0 0 1 1
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 1 0 0 1
Mulibrey nanism syndrome 0 1 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 3 1 0 0 1
Multiple epiphyseal dysplasia type 4 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 1 0 1
Myasthenic syndrome, congenital, 1B, fast-channel 0 1 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 0 1 1
Nephrogenic syndrome of inappropriate antidiuresis 1 0 0 1
Nephronophthisis 13 0 1 0 1
Nephronophthisis 18 0 1 0 1
Nephrotic syndrome 16 0 0 1 1
Nephrotic syndrome, type 21 0 0 1 1
Neurocirculatory asthenia 0 0 1 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 1
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 0 1 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 1 0 1
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 1
Neurodevelopmental disorder with poor growth and behavioral abnormalities 0 0 1 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 2A 1 0 0 1
Noonan syndrome 13 0 0 1 1
Noonan syndrome 2 0 1 0 1
Noonan syndrome 4 0 0 1 1
Okur-Chung neurodevelopmental syndrome 1 0 0 1
Osteogenesis imperfecta, perinatal lethal 0 0 1 1
Paget disease of bone 3 0 1 0 1
Palmoplantar keratoderma-esophageal carcinoma syndrome 0 0 1 1
Pancreatic agenesis 1 1 0 0 1
Parenti-mignot neurodevelopmental syndrome 0 0 1 1
Parkinson disease 11, autosomal dominant, susceptibility to 0 0 1 1
Parkinson disease 26, autosomal dominant, susceptibility to 0 0 1 1
Periventricular nodular heterotopia 7 0 0 1 1
Periventricular nodular heterotopia 9 0 0 1 1
Perrault syndrome 1 0 1 0 1
Pigmentary pallidal degeneration 0 1 0 1
Pigmentary retinal dystrophy 0 0 1 1
Pilarowski-Bjornsson syndrome 0 0 1 1
Pituitary hormone deficiency, combined, 2 1 0 0 1
Pleuropulmonary blastoma 0 0 1 1
Pontocerebellar hypoplasia type 2B 0 1 0 1
Pontocerebellar hypoplasia type 3 0 0 1 1
Pontocerebellar hypoplasia type 6 0 1 0 1
Potassium-aggravated myotonia 1 0 0 1
Primary hyperoxaluria type 3 1 0 0 1
Prolidase deficiency 1 0 0 1
Prolonged electroretinal response suppression 1 1 0 0 1
Protoporphyria, erythropoietic, 1 1 0 0 1
Pseudoxanthoma elasticum, forme fruste 1 0 0 1
Pyruvate kinase deficiency of red cells 1 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 1 0 1
Recessive dystrophic epidermolysis bullosa 0 1 0 1
Renal carnitine transport defect 1 0 0 1
Retinitis pigmentosa 19 1 0 0 1
Retinitis pigmentosa 25 1 0 0 1
Retinitis pigmentosa 39 1 0 0 1
Retinoblastoma 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 1
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 1 0 0 1
Sialuria 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 1
Sotos syndrome 0 1 0 1
Spastic ataxia 1 0 0 1 1
Spinocerebellar ataxia 48 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 30 1 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 1 1
Stankiewicz-Isidor syndrome 0 1 0 1
Syndromic X-linked intellectual disability Snyder type 0 1 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 0 1
Tay-Sachs disease 1 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 1 0 1
Treacher Collins syndrome 4 0 0 1 1
Tumor predisposition syndrome 3 0 0 1 1
Usher syndrome type 1D 0 1 0 1
Velocardiofacial syndrome 0 0 1 1
Very long chain acyl-CoA dehydrogenase deficiency 0 1 0 1
Wagner disease 0 1 0 1
Warburg micro syndrome 1 1 0 0 1
Werner syndrome 0 1 0 1
Wolman disease 1 0 0 1
X-linked Alport syndrome 0 1 0 1
ZTTK syndrome 1 0 0 1
Zaki syndrome 0 0 1 1

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