ClinVar Miner

Variants from DASA

Location: Brazil  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
403 160 0 0 0 563

Gene and significance breakdown #

Total genes and gene combinations: 372
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Gene or gene combination pathogenic likely pathogenic total
BRCA2 13 0 13
BRCA1 10 0 10
FBN1 5 3 8
NF1 8 0 8
PTPN11 8 0 8
LPL 7 0 7
CAPN3 5 1 6
GJB2 5 1 6
MECP2 6 0 6
BRAF 5 0 5
DNAH5 4 1 5
NOTCH3 4 1 5
CFTR 3 1 4
CHEK2 1 3 4
GAA 4 0 4
LOC102724058, SCN1A 4 0 4
POLG, POLGARF 3 1 4
PTEN 4 0 4
AGL 3 0 3
BTD 3 0 3
CLCN1 1 2 3
COL1A1 1 2 3
COL1A2 3 0 3
DHCR7 3 0 3
FGFR2 3 0 3
FGFR3 3 0 3
GALT 3 0 3
HBB, LOC106099062, LOC107133510 3 0 3
MTFMT 1 2 3
NSD1 3 0 3
PYGM 3 0 3
SCN5A 2 1 3
SLC12A3 2 1 3
SPAST 1 2 3
USH2A 3 0 3
ABCA4 2 0 2
AIRE 2 0 2
ALPL 2 0 2
ASL 1 1 2
ATM 1 1 2
ATM, C11orf65 2 0 2
ATP7B 2 0 2
BRAT1 2 0 2
BRCA1, LOC126862571 2 0 2
CENPJ 1 1 2
CFTR, LOC111674472 2 0 2
CHD7 1 1 2
COL18A1, SLC19A1 2 0 2
COL4A3, MFF-DT 1 1 2
CPLANE1 1 1 2
CRB1 1 1 2
CYP21A2, LOC106780800 2 0 2
CYP21A2, LOC106780800, TNXB 2 0 2
FLG 1 1 2
FLNC 1 1 2
GBA1, LOC106627981 1 1 2
GFAP 1 1 2
GH-LCR, SCN4A 2 0 2
HEXA 2 0 2
HFE 2 0 2
KCNQ1 2 0 2
KCNQ2 1 1 2
KMT2A 2 0 2
KRAS 2 0 2
LAMA2 2 0 2
LDLR 1 1 2
LOXHD1 2 0 2
MAP2K1 2 0 2
MMACHC 2 0 2
MUTYH 2 0 2
MVK 2 0 2
MYBPC3 2 0 2
PAH 2 0 2
PALB2 1 1 2
PIGP 1 1 2
PKD1 2 0 2
PMM2 2 0 2
PMS2 2 0 2
PNKP 1 1 2
POLR3A 0 2 2
RNASEH2B 2 0 2
RYR1 1 1 2
SCN1A 0 2 2
SDHA 0 2 2
SDHB 2 0 2
SELENON 2 0 2
SETD5 1 1 2
SLC26A2 2 0 2
SLC37A4 2 0 2
SOS1 2 0 2
SPG7 2 0 2
STXBP1 2 0 2
SURF1 2 0 2
TP63 0 2 2
TTR 2 0 2
WFS1 1 1 2
WNT10A 2 0 2
ZFYVE26 2 0 2
ZNF292 1 1 2
AARS1 0 1 1
ABCB4 0 1 1
ABCC6 1 0 1
ABCC8 0 1 1
ABCD1 0 1 1
ABHD12 1 0 1
ACADM 1 0 1
ACADS 0 1 1
ACTA1 1 0 1
ACTB 1 0 1
ACTG2 1 0 1
ACVR1 1 0 1
ADGRV1 1 0 1
AFG2A 1 0 1
AGPAT2 0 1 1
AHCY 1 0 1
ALDH3A2 1 0 1
ALDH5A1 1 0 1
ALMS1 1 0 1
AMER1 1 0 1
ANKRD11, TRAPPC2L 0 1 1
AOPEP, FANCC 1 0 1
AP4B1 1 0 1
AP4M1 0 1 1
APOA5 0 1 1
APOB 0 1 1
ARFGEF1, CSPP1 1 0 1
ASXL3 1 0 1
ATR 0 1 1
AVP 0 1 1
B3GALT6 0 1 1
BAG3 1 0 1
BCS1L 1 0 1
BLM 1 0 1
BRIP1 1 0 1
BSCL2, HNRNPUL2-BSCL2 1 0 1
C17orf107, CHRNE 1 0 1
C1orf105, PIGC 1 0 1
C7 0 1 1
CACNA1S 1 0 1
CAMK2B 1 0 1
CASD1, SGCE 1 0 1
CASR 0 1 1
CBS 1 0 1
CEP104, LOC126805586 1 0 1
CFAP300 0 1 1
CFAP43 1 0 1
CFI 1 0 1
CHD2 1 0 1
CHD7, LOC126860403 1 0 1
CIZ1, DNM1 1 0 1
CLCN5, LOC126863258 1 0 1
CLCN7 0 1 1
CLN3 0 1 1
CNGA1, LOC101927157 1 0 1
CNTNAP1 1 0 1
COL11A1 0 1 1
COL2A1 1 0 1
COL3A1 0 1 1
COL6A1 1 0 1
COLQ 1 0 1
CP 0 1 1
CSF1R 1 0 1
CTNNB1 1 0 1
CUX1 0 1 1
CYP27A1 1 0 1
DBNL, LOC129998343, PGAM2 1 0 1
DBT 1 0 1
DDC 1 0 1
DDX3X 1 0 1
DEPDC5 0 1 1
DHPS 0 1 1
DHTKD1 0 1 1
DKC1 0 1 1
DLD 1 0 1
DNM1 0 1 1
DNM1, LOC113839516 0 1 1
DNM2 1 0 1
DPYD 0 1 1
DPYS 0 1 1
DSPP 0 1 1
DYNC1H1 1 0 1
EBF3 1 0 1
EBP 0 1 1
ECEL1 1 0 1
EIF2B5 1 0 1
EPM2A 1 0 1
ERCC6 1 0 1
ERCC8 1 0 1
ETFDH 0 1 1
EVC2 1 0 1
EXOSC2, LOC130002815 1 0 1
EXOSC3 1 0 1
EYA1 1 0 1
F11 1 0 1
FAM111A, LOC130005740 1 0 1
FANCD2, LOC107303338 0 1 1
FGD1 0 1 1
FIG4 1 0 1
FKRP 1 0 1
FLCN 1 0 1
FLNA 1 0 1
FLNB 1 0 1
FOXG1 0 1 1
FOXP1 1 0 1
FOXRED1 1 0 1
FREM1 0 1 1
GALE 0 1 1
GAMT 1 0 1
GCH1 0 1 1
GCK 0 1 1
GDAP1 1 0 1
GHSR 0 1 1
GJB1 0 1 1
GLB1 1 0 1
GLDC 0 1 1
GMPPB 1 0 1
GNAS 1 0 1
GPHN, RDH12 1 0 1
GSDME 1 0 1
HDAC8 1 0 1
HEPACAM 0 1 1
HPS6 0 1 1
HYDIN 0 1 1
IDS, LOC106050102 1 0 1
IFT43 0 1 1
IGHMBP2 1 0 1
IL7R 0 1 1
INPPL1 0 1 1
INPPL1, LOC130006327 0 1 1
IRAK1BP1, PHIP 0 1 1
ITPA 1 0 1
IVD 1 0 1
KATNIP 1 0 1
KCND3 0 1 1
KCNH2 0 1 1
KCNK9 1 0 1
KCNT2 0 1 1
KDM6A 1 0 1
KIF1A 1 0 1
KIF7 1 0 1
L1CAM 1 0 1
LAMA1 0 1 1
LAMC3 1 0 1
LBR 0 1 1
LIAS 1 0 1
LMF1 1 0 1
LMNA 0 1 1
LOC114803475, PPARG 0 1 1
LOC126861242, NDUFV1 1 0 1
LOC126861898, MYH7 1 0 1
LOC126862361, SLC12A3 1 0 1
LOC129992813, PKD2 0 1 1
LRRC32 0 1 1
LZTR1 0 1 1
MADD 0 1 1
MAN2B1 0 1 1
MARVELD2 1 0 1
MC4R 0 1 1
MCCC1 1 0 1
MEF2C 1 0 1
MEN1 0 1 1
MME 0 1 1
MPDZ 1 0 1
MSH6 1 0 1
MVP-DT, PRRT2 1 0 1
MYH2, MYHAS 0 1 1
MYH3 1 0 1
MYH9 1 0 1
MYO18B 0 1 1
NAGLU 1 0 1
NBEA 0 1 1
NBN 1 0 1
NCAPH2, SCO2 1 0 1
NEB 1 0 1
NEB, RIF1 0 1 1
NPC1 1 0 1
NPHP3, NPHP3-ACAD11 0 1 1
NPHS1 1 0 1
NRAS 0 1 1
ODAD1 0 1 1
OTC 1 0 1
P3H1 1 0 1
PACS1 1 0 1
PACS2 1 0 1
PAPSS2 1 0 1
PAX2 1 0 1
PCCA 1 0 1
PCCB 1 0 1
PDHA1 1 0 1
PDZD7 1 0 1
PHEX, PTCHD1 0 1 1
PHIP 1 0 1
PI4KA 0 1 1
PIEZO1 1 0 1
PIKFYVE 0 1 1
PKDCC 0 1 1
PLEC 1 0 1
POLRMT 0 1 1
PPIB, SNX22 0 1 1
PPM1D 0 1 1
PRNP 1 0 1
PROKR2 0 1 1
PTH 0 1 1
PURA 1 0 1
QDPR 1 0 1
RAD50 1 0 1
RAF1 1 0 1
RARS2 1 0 1
RBBP8 0 1 1
RECQL4 1 0 1
RHO 1 0 1
RNASEH2A 1 0 1
RPE65 1 0 1
SACS 1 0 1
SATB1 0 1 1
SCAPER 0 1 1
SCN1A, SCN9A 1 0 1
SCN2A 1 0 1
SCNN1A 1 0 1
SCNN1B 0 1 1
SEC23B 1 0 1
SERAC1 1 0 1
SERPINA1 1 0 1
SGSH 1 0 1
SH3TC2 1 0 1
SHANK3 1 0 1
SKIC2 1 0 1
SLC17A5 1 0 1
SLC30A9 0 1 1
SLC40A1 1 0 1
SLC6A19 1 0 1
SLC6A5 1 0 1
SLC6A8 1 0 1
SLC7A9 0 1 1
SLX4 0 1 1
SMAD4 1 0 1
SMN2 0 1 1
SMPD1 0 1 1
SNCB 0 1 1
SNHG14, UBE3A 1 0 1
SPG11 1 0 1
STAG2 0 1 1
STK4 1 0 1
SYNE1 0 1 1
SYNGAP1 0 1 1
SZT2 0 1 1
TAPBPL, VAMP1 0 1 1
TARDBP 0 1 1
TBX19 1 0 1
TCAP 1 0 1
TCIRG1 1 0 1
TCTN1 1 0 1
TECPR2 0 1 1
TELO2 0 1 1
TIMM50 0 1 1
TMEM106B 1 0 1
TMEM126B 0 1 1
TMTC3 0 1 1
TP53 1 0 1
TPM2 0 1 1
TRAPPC4 1 0 1
TRIOBP 1 0 1
TRIT1 0 1 1
TRNT1 0 1 1
TTN 0 1 1
TUBB3 0 1 1
TUBGCP6 1 0 1
UNC13D 1 0 1
VARS2 1 0 1
WASHC5 0 1 1
WDR73 0 1 1
ZNF142 1 0 1

Condition and significance breakdown #

Total conditions: 390
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Condition pathogenic likely pathogenic total
BRCA2-Related Disorders 13 0 13
Breast-ovarian cancer, familial, susceptibility to, 1 12 0 12
Marfan syndrome 5 3 8
Neurofibromatosis, type 1 8 0 8
Cystic fibrosis 5 1 6
Rett syndrome 6 0 6
Ataxia-telangiectasia syndrome 4 1 5
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 4 1 5
Hyperlipoproteinemia, type I 5 0 5
Noonan syndrome 1 5 0 5
Primary ciliary dyskinesia 3 4 1 5
CAPN3-Related Disorders 3 1 4
CHEK2-Related Cancer Susceptibility 1 3 4
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 4 0 4
Familial hypokalemia-hypomagnesemia 3 1 4
Glycogen storage disease, type II 4 0 4
Noonan syndrome 4 0 4
Autosomal recessive nonsyndromic hearing loss 1A 3 0 3
Biotinidase deficiency 3 0 3
Combined oxidative phosphorylation defect type 15 1 2 3
Congenital myotonia, autosomal dominant form 1 2 3
Cowden syndrome 1 3 0 3
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 3 0 3
Developmental and epileptic encephalopathy, 31 1 2 3
Glycogen storage disease type III 3 0 3
Glycogen storage disease, type V 3 0 3
Hereditary spastic paraplegia 4 1 2 3
Migraine, familial hemiplegic, 3 3 0 3
Osteogenesis imperfecta 3 0 3
Smith-Lemli-Opitz syndrome 3 0 3
Sotos syndrome 3 0 3
USH2A-Related Disorders 3 0 3
ABCA4-Related Disorders 2 0 2
Achondroplasia 2 0 2
Aicardi-Goutieres syndrome 2 2 0 2
Alexander disease 1 1 2
Alport syndrome 1 1 2
Argininosuccinate lyase deficiency 1 1 2
Autosomal recessive nonsyndromic hearing loss 77 2 0 2
CHARGE association 1 1 2
Cardiofaciocutaneous syndrome 3 2 0 2
Cobalamin C disease 2 0 2
Deafness 2 0 2
Developmental and epileptic encephalopathy, 4 2 0 2
Developmental and epileptic encephalopathy, 55 1 1 2
FGFR2-related craniosynostosis 2 0 2
Familial amyloid neuropathy 2 0 2
Familial colorectal cancer 2 0 2
Familial hypercholesterolemia 1 1 2
Generalized epilepsy with febrile seizures plus, type 2 1 1 2
Heinz body anemia 2 0 2
Hereditary hemochromatosis 2 0 2
Hereditary spastic paraplegia 7 2 0 2
Hyperlipidemia, familial combined, LPL related 2 0 2
Hypertrophic cardiomyopathy 26 1 1 2
Hypokalemic periodic paralysis, type 1 2 0 2
Hypophosphatasia 2 0 2
Ichthyosis vulgaris 1 1 2
Intellectual developmental disorder, autosomal dominant 64 1 1 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 2
KCNQ1-Related Disorders 2 0 2
Knobloch syndrome 2 0 2
Lynch syndrome 2 0 2
MVK-Related Disorders 2 0 2
MYBPC3-Related Disorders 2 0 2
Microcephaly 6, primary, autosomal recessive 1 1 2
Microcephaly, seizures, and developmental delay 1 1 2
Myasthenic syndrome, slow-channel congenital 2 0 2
Neonatal pseudo-hydrocephalic progeroid syndrome 0 2 2
Neonatal-onset encephalopathy with rigidity and seizures 2 0 2
Neurodegeneration with ataxia and late-onset optic atrophy 0 2 2
Noonan syndrome 3 2 0 2
Noonan syndrome 4 2 0 2
Opsismodysplasia 0 2 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 1 2
POLG-Related Spectrum Disorders 1 1 2
POLG-related disorder 2 0 2
Phenylketonuria 2 0 2
Polycystic liver disease 1 2 0 2
Polyglandular autoimmune syndrome, type 1 2 0 2
Propionic acidemia 2 0 2
RYR1-Related Disorders 1 1 2
SCN5A-Related Disorders 1 1 2
SDHB-Related Disorders 2 0 2
TP63-Related Spectrum Disorders 0 2 2
Tay-Sachs disease 2 0 2
Tooth agenesis, selective, 4 2 0 2
WFS1-Related Spectrum Disorders 1 1 2
Wiedemann-Steiner syndrome 2 0 2
Wilson disease 2 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 1 0 1
3-methylglutaconic aciduria type 9 0 1 1
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 1 0 1
5q14.3 microdeletion syndrome 1 0 1
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1 0 1
ABCB4-Related Intrahepatic Cholestasis 0 1 1
Adrenoleukodystrophy 0 1 1
Aicardi-Goutieres syndrome 4 1 0 1
Al-Gazali syndrome 0 1 1
Alpha-1-antitrypsin deficiency 1 0 1
Alstrom syndrome 1 0 1
Angelman syndrome 1 0 1
Arthrogryposis multiplex congenita 3, myogenic type 0 1 1
Arthrogryposis multiplex congenita 6 1 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 1
Atelosteogenesis type II 1 0 1
Atypical behavior; Intellectual disability; Spastic paraplegia 1 0 1
Autosomal dominant Kenny-Caffey syndrome 1 0 1
Autosomal dominant hypophosphatemic rickets 0 1 1
Autosomal dominant nonsyndromic hearing loss 3A 0 1 1
Autosomal dominant nonsyndromic hearing loss 5 1 0 1
Autosomal dominant osteopetrosis 2 0 1 1
Autosomal recessive brachyolmia 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 0 1
Autosomal recessive nonsyndromic hearing loss 28 1 0 1
Autosomal recessive nonsyndromic hearing loss 49 1 0 1
Autosomal recessive osteopetrosis 1 1 0 1
BNAR syndrome 0 1 1
BRIP1-Related Disorders 1 0 1
Baller-Gerold syndrome 1 0 1
Birk-Barel syndrome 1 0 1
Bloom syndrome 1 0 1
Branchiootorenal syndrome 1 1 0 1
Bronchiectasis with or without elevated sweat chloride 1 0 1 1
Bronchiectasis with or without elevated sweat chloride 2 1 0 1
Brugada syndrome 9 0 1 1
Carotid intimal medial thickness 1 0 1 1
Cerebral creatine deficiency syndrome 1 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 1
Charcot-Marie-Tooth disease axonal type 2N 0 1 1
Charcot-Marie-Tooth disease axonal type 2Q 0 1 1
Charcot-Marie-Tooth disease dominant intermediate B 1 0 1
Charcot-Marie-Tooth disease type 2 0 1 1
Charcot-Marie-Tooth disease type 4A 1 0 1
Charcot-Marie-Tooth disease type 4K 1 0 1
Charlevoix-Saguenay spastic ataxia 1 0 1
Cholestanol storage disease 1 0 1
Ciliary dyskinesia, primary, 38 0 1 1
Classic homocystinuria 1 0 1
Cleft palate, proliferative retinopathy, and developmental delay 0 1 1
Cockayne syndrome type 1 1 0 1
Collagen 6-related myopathy 1 0 1
Combined immunodeficiency due to STK4 deficiency 1 0 1
Combined oxidative phosphorylation defect type 20 1 0 1
Combined oxidative phosphorylation deficiency 55 0 1 1
Complement component 7 deficiency 0 1 1
Congenital Muscular Dystrophy, LAMA2-related 1 0 1
Congenital disorder of glycosylation type I 1 0 1
Congenital disorder of glycosylation, type IIw 1 0 1
Congenital dyserythropoietic anemia, type II 1 0 1
Congenital generalized lipodystrophy type 1 0 1 1
Congenital isolated adrenocorticotropic hormone deficiency 1 0 1
Congenital myopathy with fiber type disproportion 1 0 1
Cornelia de Lange syndrome 1 1 0 1
Craniosynostosis syndrome 1 0 1
Creatine transporter deficiency 1 0 1
Cystinuria 0 1 1
DLD-Related Disorders 1 0 1
Deeah syndrome 0 1 1
Deficiency of alpha-mannosidase 0 1 1
Deficiency of aromatic-L-amino-acid decarboxylase 1 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 1 0 1
Dentinogenesis imperfecta type 3 0 1 1
Developmental and epileptic encephalopathy 94 1 0 1
Developmental and epileptic encephalopathy, 1 1 0 1
Developmental and epileptic encephalopathy, 11 1 0 1
Developmental and epileptic encephalopathy, 18 0 1 1
Developmental and epileptic encephalopathy, 35 1 0 1
Developmental and epileptic encephalopathy, 7 0 1 1
Developmental malformations-deafness-dystonia syndrome 1 0 1
Diabetes insipidus 0 1 1
Dihydropyrimidinase deficiency 0 1 1
Dihydropyrimidine dehydrogenase deficiency 0 1 1
Dilated cardiomyopathy 1HH 1 0 1
Distal arthrogryposis type 5D 1 0 1
Dopa-responsive dystonia 0 1 1
Dyskeratosis congenita, X-linked 0 1 1
EBF3-related disorder 1 0 1
ERCC6-Related Disorders 1 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 1 1
Ehlers-Danlos syndrome, cardiac valvular type 1 0 1
Ehlers-Danlos syndrome, type 4 0 1 1
Eichsfeld type congenital muscular dystrophy 1 0 1
Ellis-van Creveld syndrome 1 0 1
Epilepsy, familial focal, with variable foci 1 0 1 1
Epilepsy, idiopathic generalized, susceptibility to, 8 0 1 1
Episodic kinesigenic dyskinesia 1 1 0 1
FGFR3-related chondrodysplasia 1 0 1
FIG4-Related Disorders 1 0 1
FLNA related disorders 1 0 1
FLNB-Related Spectrum Disorders 1 0 1
FOXG1 disorder 0 1 1
Factor I deficiency 1 0 1
Familial aplasia of the vermis 1 0 1
Familial cancer of breast 1 0 1
Familial hemophagocytic lymphohistiocytosis 3 1 0 1
Familial hypoparathyroidism 0 1 1
Familial spontaneous pneumothorax 1 0 1
Fanconi anemia complementation group C 1 0 1
Fanconi anemia complementation group D2 0 1 1
Fanconi anemia complementation group N 1 0 1
Fanconi anemia complementation group P 0 1 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 0 1 1
Finnish congenital nephrotic syndrome 1 0 1
Fleck corneal dystrophy 0 1 1
Focal segmental glomerulosclerosis 7 1 0 1
Focal-onset seizure 0 1 1
Frontotemporal lobar degeneration, TARDBP-related 0 1 1
GLB1-Related Disorders 1 0 1
Galloway-Mowat syndrome 1 0 1 1
Gaucher disease 1 0 1
Gaucher disease type I 0 1 1
Generalized epilepsy with febrile seizures plus, type 7 1 0 1
Global developmental delay with or without impaired intellectual development 0 1 1
Glutaric acidemia IIc 0 1 1
Glycogen storage disease type 1 due to SLC37A4 mutation 1 0 1
Glycogen storage disease type X 1 0 1
Glycosylphosphatidylinositol biosynthesis defect 16 1 0 1
HBB-Related Disorders 1 0 1
Hemochromatosis type 4 1 0 1
Hereditary diffuse leukoencephalopathy with spheroids 1 0 1
Hereditary factor XI deficiency disease 1 0 1
Hereditary spastic paraplegia 11 1 0 1
Hereditary spastic paraplegia 15 1 0 1
Hereditary spastic paraplegia 30 1 0 1
Hereditary spastic paraplegia 47 1 0 1
Hereditary spastic paraplegia 49 0 1 1
Hereditary spastic paraplegia 50 0 1 1
Hereditary spastic paraplegia 8 0 1 1
Hermansky-Pudlak syndrome 6 0 1 1
Hutchinson-Gilford syndrome 0 1 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 1 0 1
Hypercholesterolemia, familial, 1 0 1 1
Hyperekplexia 3 1 0 1
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 1 0 1
Hypertriglyceridemia 1 0 1 1
Hypoceruloplasminemia 0 1 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 1
Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 1
Hypokalemic periodic paralysis, type 2 1 0 1
Immunodeficiency 104 0 1 1
Infantile cortical hyperostosis 0 1 1
Inherited Creutzfeldt-Jakob disease 1 0 1
Intellectual developmental disorder and retinitis pigmentosa; IDDRP 0 1 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 1
Intellectual developmental disorder, X-linked, syndromic 16 0 1 1
Intellectual disability, X-linked 102 1 0 1
Intellectual disability, autosomal dominant 5 0 1 1
Intellectual disability, autosomal dominant 54 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 1
Isovaleryl-CoA dehydrogenase deficiency 1 0 1
Joubert syndrome 13 1 0 1
Joubert syndrome 17 0 1 1
Joubert syndrome 21 1 0 1
Joubert syndrome 25 1 0 1
Joubert syndrome 26 1 0 1
Juvenile polyposis syndrome 1 0 1
KBG syndrome 0 1 1
KCNQ2-Related Disorders 1 0 1
KCNT2-related condition 0 1 1
Kabuki syndrome 1 1 0 1
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 0 1 1
Kohlschutter-Tonz syndrome-like 0 1 1
Lafora disease 1 0 1
Leber congenital amaurosis 13 1 0 1
Leukodystrophy, hypomyelinating, 16 1 0 1
Lewy body dementia 0 1 1
Li-Fraumeni syndrome 1 1 0 1
Limb-girdle muscular dystrophy 1 0 1
Lipase deficiency, combined 1 0 1
Lipoic acid synthetase deficiency 1 0 1
Lissencephaly 8 0 1 1
Long QT syndrome 2 0 1 1
Lynch syndrome 5 1 0 1
MASA syndrome 1 0 1
MEND syndrome 0 1 1
MYH3-Related Disorders 1 0 1
MYH7-Related Disorders 1 0 1
MYH9-related disorder 1 0 1
Macrocephaly-autism syndrome 1 0 1
Maple syrup urine disease type 2 1 0 1
Medium-chain acyl-coenzyme A dehydrogenase deficiency 1 0 1
Megalencephalic leukoencephalopathy with subcortical cysts 2A 0 1 1
Microcephaly and chorioretinopathy 1 1 0 1
Microcephaly, normal intelligence and immunodeficiency 1 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 29 0 1 1
Mitochondrial complex 1 deficiency, nuclear type 4 1 0 1
Mitochondrial complex I deficiency, nuclear type 1 1 0 1
Mitochondrial complex III deficiency nuclear type 1 1 0 1
Mitochondrial complex IV deficiency, nuclear type 1 1 0 1
Mucopolysaccharidosis, MPS-II 1 0 1
Mucopolysaccharidosis, MPS-III-A 1 0 1
Mucopolysaccharidosis, MPS-III-B 1 0 1
Mullegama-Klein-Martinez syndrome 0 1 1
Multiple endocrine neoplasia, type 1 0 1 1
Multiple epiphyseal dysplasia, Al-Gazali type 1 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 1 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 1 0 1
Myoclonic dystonia 11 1 0 1
Myopathy 1 0 1
Myopathy, proximal, and ophthalmoplegia 0 1 1
Myopia 6 1 0 1
NPHP3-related Meckel-like syndrome 0 1 1
Nemaline myopathy 2 0 1 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 1
Neurodevelopmental disorder with impaired speech and hyperkinetic movements 1 0 1
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 1 1
Neurodevelopmental disorder with seizures and speech and walking impairment 0 1 1
Neuronal ceroid lipofuscinosis 3 0 1 1
Neuronopathy, distal hereditary motor, autosomal dominant 1 1 0 1
Neuronopathy, distal hereditary motor, type 5C 1 0 1
Neuropathy, congenital hypomyelinating, 3 1 0 1
Neutral 1 amino acid transport defect 1 0 1
Niemann-Pick disease, type B 0 1 1
Niemann-Pick disease, type C1 1 0 1
Nijmegen breakage syndrome-like disorder 1 0 1
Non-ketotic hyperglycinemia 0 1 1
Noonan syndrome 5 1 0 1
Noonan syndrome 7 1 0 1
Normal pressure hydrocephalus 1 0 1
Obesity 0 1 1
Occipital pachygyria and polymicrogyria 1 0 1
Ornithine carbamoyltransferase deficiency 1 0 1
Osteogenesis imperfecta type 8 1 0 1
Osteogenesis imperfecta type 9 0 1 1
Osteopathia striata with cranial sclerosis 1 0 1
PALB2-Related Disorders 0 1 1
PHARC syndrome 1 0 1
PMM2-congenital disorder of glycosylation 1 0 1
PURA Syndrome 1 0 1
Pelger-Huët anomaly 0 1 1
Permanent neonatal diabetes mellitus 0 1 1
Phelan-McDermid syndrome 1 0 1
Pigmentary retinal dystrophy 1 0 1
Pigmented paravenous retinochoroidal atrophy 1 0 1
Polycystic kidney disease 2 0 1 1
Pontocerebellar hypoplasia type 1B 1 0 1
Pontocerebellar hypoplasia type 6 1 0 1
Primary ciliary dyskinesia 20 0 1 1
Primary ciliary dyskinesia 5 0 1 1
Progressive myositis ossificans 1 0 1
Progressive scapulohumeroperoneal distal myopathy 1 0 1
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 1 0 1
Pseudohypoparathyroidism type I A 1 0 1
Pseudoxanthoma elasticum, forme fruste 1 0 1
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 0 1 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 1
RBBP8-Related Disorders 0 1 1
RPE65-Related Disorders 1 0 1
Retinitis pigmentosa 12 0 1 1
Retinitis pigmentosa 49 1 0 1
Retinitis pigmentosa and erythrocytic microcytosis 0 1 1
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 1 0 1
Rhizomelic limb shortening with dysmorphic features 0 1 1
SLC26A2-Related Disorders 1 0 1
Schuurs-Hoeijmakers syndrome 1 0 1
Schwannomatosis 2 0 1 1
Seckel syndrome 1 0 1 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 1
Severe myoclonic epilepsy in infancy 0 1 1
Short stature due to growth hormone secretagogue receptor deficiency 0 1 1
Short stature; Abnormal facial shape; Strabismus 1 0 1
Short-rib thoracic dysplasia 18 with polydactyly 0 1 1
Sialic acid storage disease, severe infantile type 1 0 1
Sick sinus syndrome 1 1 0 1
Sjögren-Larsson syndrome 1 0 1
Spastic ataxia 1 0 1 1
Spastic paraplegia 84, autosomal recessive 0 1 1
Spinal muscular atrophy 0 1 1
Spinal muscular atrophy with lower extremity predominance 1 0 1
Spondyloepiphyseal dysplasia congenita 1 0 1
Stickler syndrome type 2 0 1 1
Succinate-semialdehyde dehydrogenase deficiency 1 0 1
Susceptibility to mononeuropathy of the median nerve, mild 1 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 1
TPM2-related cap myopathy 0 1 1
TRIT1 Deficiency 0 1 1
TTN-Related Disorders 0 1 1
Trichohepatoenteric syndrome 2 1 0 1
Type 2 diabetes mellitus 0 1 1
UDPglucose-4-epimerase deficiency 0 1 1
Usher syndrome type 2C 1 0 1
Usher syndrome, type IIC, GPR98/PDZD7 digenic 1 0 1
Vanishing white matter disease 1 0 1
Visceral myopathy 1 1 0 1

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