ClinVar Miner

Variants from Hadassah Hebrew University Medical Center

Location: Israel  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
99 212 43 8 0 357

Gene and significance breakdown #

Total genes and gene combinations: 263
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ATAD3A 1 2 6 0 9
LONP2, SIAH1 0 8 0 0 8
USP27X 1 3 4 0 8
CUL3 2 2 2 1 7
LDLR 6 0 0 0 6
PAH 5 1 0 0 6
ATXN7L3 0 0 5 0 5
TTN 5 0 0 0 5
TYR 4 2 0 0 5
WBP4 0 5 0 0 5
ATP7B 2 2 0 0 4
BRCA2 4 0 0 0 4
AGTPBP1 1 2 0 0 3
DSP 3 0 0 0 3
GBA1, LOC106627981 3 0 0 0 3
KIAA0930 0 3 3 0 3
NFU1 1 2 0 0 3
PKHD1 3 0 0 0 3
ADPRS 0 2 0 0 2
ALS2 0 2 0 0 2
BRCA1 2 0 0 0 2
CLCN7 0 2 0 0 2
CTNS 0 2 0 0 2
CYP21A2, LOC106780800 1 1 0 0 2
DHCR7 1 1 0 0 2
DOCK7 0 2 0 0 2
DOK7 0 2 0 0 2
GFM2 0 2 0 0 2
GNRHR 1 1 0 0 2
LAMA2 0 2 0 0 2
LOC126862264, MEFV 2 0 0 0 2
LRBA 0 2 0 0 2
LSS 2 0 0 0 2
MARS1 0 2 0 0 2
MEFV 2 0 0 0 2
MYH7 2 0 0 0 2
NR2E3 2 0 0 0 2
RET 2 0 0 0 2
SERAC1 0 2 0 0 2
TCIRG1 0 2 0 0 2
ZEB1 2 1 0 0 2
ABCA12 0 1 0 0 1
ABCA4 0 1 0 0 1
ABCB11 0 1 0 0 1
ABCD1, PLXNB3 1 0 0 0 1
ABCD4 0 1 0 0 1
ACAN 1 0 0 0 1
ACOX1 0 1 0 0 1
ACSF3 0 1 0 0 1
ADAT3, SCAMP4 0 1 0 0 1
AGK 0 1 0 0 1
AICDA 0 1 0 0 1
ALDH3A2 0 1 0 0 1
ALDH5A1 0 1 0 0 1
ALDOB 1 0 0 0 1
ALG8 1 0 0 0 1
ALMS1 0 1 0 0 1
ALOX5 0 0 1 0 1
AMOT 0 0 1 0 1
AMOTL1 0 1 0 0 1
ANO5 0 1 0 0 1
ANTXR2 0 1 0 0 1
AP1S1 0 1 0 0 1
AP1S1, LOC126860125 0 1 0 0 1
AP4M1 0 1 0 0 1
ATAD3A, ATAD3B 1 0 0 0 1
ATAD3A, ATAD3B, ATAD3C 1 0 0 0 1
ATM, C11orf65 0 1 0 0 1
ATP8B1 0 1 0 0 1
BBS7 0 1 0 0 1
BLTP1 0 1 0 0 1
BRAT1 1 0 0 0 1
BTD 0 1 0 0 1
CA2 0 1 0 0 1
CACNA1F 0 1 0 0 1
CAPN15 0 1 0 0 1
CBS 1 0 0 0 1
CDON 0 1 0 0 1
CDX2 0 0 1 0 1
CEP290 0 1 0 0 1
CERS3 0 1 0 0 1
CKAP2L 0 1 0 0 1
CLCNKB, LOC106501713 1 0 0 0 1
CNTNAP2 0 1 0 0 1
COL2A1 0 1 0 0 1
COL5A1 0 0 1 0 1
COL6A2 1 0 0 0 1
COL7A1 0 1 0 0 1
CRYBA4, CRYBB1 0 1 0 0 1
CYP2U1 0 1 0 0 1
CYP4F22 0 1 0 0 1
DCAF17 0 1 0 0 1
DCDC2 0 1 0 0 1
DLD 1 0 0 0 1
DMRT1, DMRT2, DMRT3, DOCK8, FOXD4, KANK1, LINC-ADAIN, LOC110120591, LOC110120718, LOC121740737, LOC124210605, LOC126860552, LOC126860553, LOC126860554, LOC126860555, LOC129390062, LOC130001435, LOC130001436, LOC130001437, LOC130001438, LOC130001439, LOC130001440, LOC130001441, LOC130001442, LOC130001443, LOC130001444, LOC130001445, LOC130001446, LOC130001447, LOC130001448, LOC130001449, LOC130001450, LOC130001451, LOC130001452, LOC130001453, LOC130001454, LOC130001455, LOC130001456, LOC130001457, LOC130001458, LOC130001459, LOC130001460, LOC130001461, LOC130001462, LOC130001463, LOC130001464, LOC130001465, LOC130001466, SMARCA2, ZNG1A 1 0 0 0 1
DMRT2 0 1 0 0 1
DNAAF11 1 0 0 0 1
DNAAF4, DNAAF4-CCPG1 0 1 0 0 1
DNAH11 0 1 0 0 1
DNAI2 0 1 0 0 1
ECHS1 1 0 0 0 1
EDRF1 0 0 1 0 1
EPG5 0 1 0 0 1
ERC1 0 1 0 0 1
ERCC2 0 1 0 0 1
ESCO2 0 1 0 0 1
EVX2, LOC110120627 0 1 0 0 1
EXOSC8, LOC130009581 0 0 0 1 1
F8 1 0 0 0 1
FANCL 0 0 0 1 1
FAT1 0 1 0 0 1
FBXL3 1 0 0 0 1
FBXL4 0 1 0 0 1
FGD1 0 1 0 0 1
FKBP10 0 1 0 0 1
FMNL2 0 1 0 0 1
FMO3 0 1 0 0 1
FOXC2 0 1 0 0 1
FYCO1 1 0 0 0 1
GAA 0 1 0 0 1
GAS8 0 1 0 0 1
GIMAP6 0 1 0 0 1
GJB2 1 0 0 0 1
GJB6, LATS2, LINC00367, LOC130009330, LOC130009331, LOC130009332, LOC130009333, XPO4 1 0 0 0 1
GLDN 0 1 0 0 1
GLI2 0 1 0 0 1
GNE 1 0 0 0 1
GORAB 0 1 0 0 1
GPD1 0 1 0 0 1
GPIHBP1 0 1 0 0 1
GUCY2C 0 1 0 0 1
HAAO 0 1 0 0 1
HERC2 0 1 0 0 1
HNF1A 1 0 0 0 1
HSPB8 0 0 1 0 1
IL2RG 0 0 0 1 1
INPP1, LOC129935252 0 0 1 0 1
INPP4A 0 1 0 0 1
KAT2A 0 1 0 0 1
KCNH2 1 0 0 0 1
KCNQ1 1 0 0 0 1
KIF26A 0 1 0 0 1
KLHL40 0 1 0 0 1
LAMP3 0 0 1 0 1
LARP7 0 1 0 0 1
LARS1 0 1 0 0 1
LCK 0 1 0 0 1
LOC102724058, SCN1A 0 0 0 1 1
LOC113875037, LOC121627957, LOC125446266, LOC126863197, LOC126863198, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, LOC130067919, LOC130067920, LOC130067921, LOC130067922, MIR4767, MIR651, PNPLA4, PUDP, STS, VCX 1 0 0 0 1
LOC113875037, LOC130067909, LOC130067910, LOC130067911, LOC130067912, LOC130067913, LOC130067914, LOC130067915, LOC130067916, LOC130067917, LOC130067918, MIR4767, PUDP, STS 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 1
LOC130066127, PEDS1, PEDS1-UBE2V1 0 0 1 0 1
LRRC32 0 1 0 0 1
LRRC8A 0 0 1 0 1
LYST 0 1 0 0 1
MADD 1 0 0 0 1
MAPRE2 0 1 0 0 1
MFSD2A 0 1 0 0 1
MIB1 0 0 1 0 1
MPDZ 0 1 0 0 1
MSH6 1 0 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 1
MT-ND4 1 0 0 0 1
MT-TS1 1 0 0 0 1
MTMR2 0 1 0 0 1
MVP-DT, PAGR1 0 1 0 0 1
MYOM1 0 1 0 0 1
NADK2 0 1 0 0 1
NBEAL2 0 1 0 0 1
NDC1 0 0 1 0 1
NDNF 0 1 0 0 1
NEK9 0 0 0 1 1
NGLY1 0 1 0 0 1
NIN 0 1 0 0 1
NKX2-6 0 1 0 0 1
NNT 0 1 0 0 1
NOTCH1 0 1 0 0 1
NR1H4 0 1 0 0 1
NSUN2 0 1 0 0 1
NUP214 0 1 0 0 1
NUSAP1 0 1 0 0 1
OFD1 1 0 0 0 1
OTOG 0 1 0 0 1
OVOL2 0 0 1 0 1
PARK7 0 1 0 0 1
PARP10 0 1 0 0 1
PAX3 0 1 0 0 1
PAX7 0 1 0 0 1
PCYT2 0 1 0 0 1
PDE10A 0 1 0 0 1
PEPD 0 1 0 0 1
PEX6 0 1 0 0 1
PHF6 0 0 1 0 1
PIEZO1 0 1 0 0 1
PLCE1 0 1 0 0 1
PNKP 0 1 0 0 1
PNPLA8 0 1 0 0 1
POLE 0 1 0 0 1
POLR1C 0 1 0 0 1
POLR2F, SOX10 0 1 0 0 1
PRKN 1 0 0 0 1
PROKR1 0 0 0 1 1
PYGM 0 1 0 0 1
RASL12, SLC51B 0 1 0 0 1
RBL2 0 1 0 0 1
RBM20 0 0 1 0 1
RECQL 0 0 1 0 1
RECQL4 0 1 0 0 1
REEP2 0 1 0 0 1
RFT1 0 0 1 0 1
RIN2 0 1 0 0 1
RMND1 0 1 0 0 1
RNF207 0 1 0 0 1
RNU2-2, WDR74 1 0 0 0 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 1
RPAIN 0 0 1 0 1
RYR1 1 0 0 0 1
SACS 0 1 0 0 1
SCNN1G 0 1 0 0 1
SEC23B 1 0 0 0 1
SEMA3C 0 0 1 0 1
SGCA 0 1 0 0 1
SGCB 0 1 0 0 1
SGSM3 0 1 0 0 1
SKIC3 0 1 0 0 1
SLC25A12 0 1 0 0 1
SLC25A38 0 1 0 0 1
SLC26A3 0 1 0 0 1
SLC26A4 0 1 0 0 1
SLC34A3 0 1 0 0 1
SLC44A1 0 1 0 0 1
SLC5A2 0 1 0 0 1
SLC9A9 0 0 1 0 1
SMARCAL1 0 1 0 0 1
SMARCD2 0 1 0 0 1
SNAP29 0 1 0 0 1
SNX10 0 1 0 0 1
SOD1 0 1 0 0 1
SPG11 0 1 0 0 1
SRD5A3 0 1 0 0 1
TBCE 0 1 0 0 1
TBCK 0 1 0 0 1
TENM4 0 0 0 1 1
TGDS 0 1 0 0 1
TGFBR1 1 0 0 0 1
TLL1 0 0 1 0 1
TLN1 0 1 0 0 1
TMEM237 0 1 0 0 1
TNNI3 1 0 0 0 1
TNNT1 0 1 0 0 1
TOR1AIP1 0 1 0 0 1
TRAPPC12 0 1 0 0 1
TRPV1 0 1 0 0 1
TTC8 0 1 0 0 1
TTR 1 0 0 0 1
TUBGCP6 0 0 1 0 1
UBAP1 0 0 1 0 1
UNC13D 0 1 0 0 1
VARS1 0 1 0 0 1
VPS13B 0 1 0 0 1
WWOX 0 1 0 0 1
XPC 0 1 0 0 1
XYLT2 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 237
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Condition pathogenic likely pathogenic uncertain significance likely benign total
See cases 0 14 22 0 36
Harel-Yoon syndrome 2 2 6 0 10
Neurodevelopmental disorder 1 9 0 0 10
Intellectual disability, X-linked 105 1 3 4 0 8
Neurodevelopmental disorder with or without autism or seizures 2 2 2 1 7
Phenylketonuria 6 1 0 0 7
Hypercholesterolemia, familial, 1 6 0 0 0 6
Dilated cardiomyopathy 1G 5 0 0 0 5
not provided 0 0 3 2 5
Breast-ovarian cancer, familial, susceptibility to, 2 4 0 0 0 4
Familial Mediterranean fever 4 0 0 0 4
Oculocutaneous albinism type 1A; Oculocutaneous albinism type 1B 2 2 0 0 4
Wilson disease 2 2 0 0 4
Retinal disorder; Cleft palate 0 0 1 2 3
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 1 1 0 0 2
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 0 2 0 0 2
Alopecia-intellectual disability syndrome 4 2 0 0 0 2
Amyotrophic lateral sclerosis type 2, juvenile; Juvenile primary lateral sclerosis; Infantile-onset ascending hereditary spastic paralysis 0 2 0 0 2
Arrhythmogenic right ventricular dysplasia 8 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 2
Autosomal recessive osteopetrosis 1 0 2 0 0 2
Autosomal recessive osteopetrosis 4 0 2 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 2 0 0 0 2
Combined immunodeficiency due to LRBA deficiency 0 2 0 0 2
Congenital myasthenic syndrome 10 0 2 0 0 2
Corneal dystrophy 2 0 0 0 2
Developmental and epileptic encephalopathy, 23 0 2 0 0 2
Enhanced S-cone syndrome 2 0 0 0 2
Gaucher disease perinatal lethal 2 0 0 0 2
Gaucher disease type I 2 0 0 0 2
Global developmental delay; Aplasia/Hypoplasia of the cerebellum 1 1 0 0 2
Hypertrophic cardiomyopathy 1 2 0 0 0 2
Hypogonadotropic hypogonadism 7 with or without anosmia 1 1 0 0 2
MEDNIK syndrome 0 2 0 0 2
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 0 2 0 0 2
Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis 0 2 0 0 2
Oculocutaneous albinism type 1A 2 0 0 0 2
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 0 2 0 0 2
Smith-Lemli-Opitz syndrome 1 1 0 0 2
Spastic paraplegia 93, autosomal recessive 1 1 0 0 2
X-linked ichthyosis with steryl-sulfatase deficiency 2 0 0 0 2
not specified 0 0 0 2 2
46,XY gonadal dysgenesis 1 0 0 0 1
ALG8 congenital disorder of glycosylation 1 0 0 0 1
Aarskog syndrome 0 1 0 0 1
Acyl-CoA oxidase deficiency 0 1 0 0 1
Adrenoleukodystrophy 1 0 0 0 1
Aland island eye disease 0 1 0 0 1
Alkuraya-Kucinskas syndrome 0 1 0 0 1
Alstrom syndrome 0 1 0 0 1
Alveolar rhabdomyosarcoma; Myopathy, congenital, progressive, with scoliosis 0 1 0 0 1
Aminoglycoside-induced deafness 1 0 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 1
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 0 1 0 0 1
Ataxia - oculomotor apraxia type 4 0 1 0 0 1
Autosomal recessive congenital ichthyosis 4B 0 1 0 0 1
Autosomal recessive congenital ichthyosis 5 0 1 0 0 1
Autosomal recessive congenital ichthyosis 9 0 1 0 0 1
Autosomal recessive early-onset Parkinson disease 7 0 1 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 1 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2D 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2E 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2Y 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 18B 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 4 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis 0 1 0 0 1
Autosomal recessive osteopetrosis 8 0 1 0 0 1
Baller-Gerold syndrome; Rapadilino syndrome; Rothmund-Thomson syndrome type 2 0 1 0 0 1
Bardet-Biedl syndrome 7 0 1 0 0 1
Bartter disease type 4B 1 0 0 0 1
Biotinidase deficiency 0 1 0 0 1
Borjeson-Forssman-Lehmann syndrome 0 0 1 0 1
Brunet-Wagner neurodevelopmental syndrome 0 1 0 0 1
CEDNIK syndrome 0 1 0 0 1
Capillary leak syndrome 0 1 0 0 1
Cataract 17 0 1 0 0 1
Cataract 18 1 0 0 0 1
Catel-Manzke syndrome 0 1 0 0 1
Charcot-Marie-Tooth disease type 4B1 0 1 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 1
Cholestasis, progressive familial intrahepatic, 5 0 1 0 0 1
Chédiak-Higashi syndrome 0 1 0 0 1
Cohen syndrome 0 1 0 0 1
Combined malonic and methylmalonic acidemia 0 1 0 0 1
Combined oxidative phosphorylation defect type 11 0 1 0 0 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 0 1 0 0 1
Congenital disorder of deglycosylation 0 1 0 0 1
Congenital dyserythropoietic anemia, type II 1 0 0 0 1
Congenital myasthenic syndrome 12 0 1 0 0 1
Congenital ocular coloboma 0 1 0 0 1
Congenital ocular coloboma; Congenital heart disease; Failure to thrive; Horseshoe kidney; Microcephaly; Dysmorphism; Hearing loss; imperforated anus; bilateral optic disc gliosis; Sacral dysplasia; Seziures 0 1 0 0 1
Congenital secretory diarrhea, chloride type 0 1 0 0 1
Conotruncal heart malformations 0 1 0 0 1
Corneal dystrophy, Fuchs endothelial, 6 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 11 0 1 0 0 1
Cortical dysplasia-focal epilepsy syndrome 0 1 0 0 1
Crohn disease 0 1 0 0 1
Deeah syndrome 1 0 0 0 1
Developmental and epileptic encephalopathy, 39 0 1 0 0 1
Developmental delay 0 1 0 0 1
Diarrhea; Cholestasis 0 1 0 0 1
Dilated cardiomyopathy 2A 1 0 0 0 1
Distichiasis-lymphedema syndrome 0 1 0 0 1
Dyslexia, susceptibility to, 1; Primary ciliary dyskinesia 25 0 1 0 0 1
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 0 1 0 0 1
Familial cancer of breast; Ataxia-telangiectasia syndrome 0 1 0 0 1
Familial hemophagocytic lymphohistiocytosis 3 0 1 0 0 1
Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 1 0 0 0 1
Familial renal glucosuria 0 1 0 0 1
Fanconi anemia complementation group L 0 0 0 1 1
Filippi syndrome 0 1 0 0 1
GNE myopathy 1 0 0 0 1
Geroderma osteodysplastica 0 1 0 0 1
Global developmental delay; Motor polyneuropathy; Aplasia/Hypoplasia of the cerebellum 0 1 0 0 1
Global developmental delay; Retinal disorder; Cleft palate 0 0 1 0 1
Global developmental delay; Vitreoretinopathy; Cleft palate 0 1 0 0 1
Glucocorticoid deficiency 4 0 1 0 0 1
Glycogen storage disease, type II 0 1 0 0 1
Glycogen storage disease, type V 0 1 0 0 1
Gnathodiaphyseal dysplasia 0 1 0 0 1
Gray platelet syndrome 0 1 0 0 1
Heimler syndrome 2 0 1 0 0 1
Hereditary factor VIII deficiency disease 1 0 0 0 1
Hereditary fructosuria 1 0 0 0 1
Hereditary spastic paraplegia 50 0 1 0 0 1
Hereditary spastic paraplegia 56 0 1 0 0 1
Hereditary spastic paraplegia 72 0 1 0 0 1
Homocystinuria 1 0 0 0 1
Hyaline fibromatosis syndrome 0 1 0 0 1
Hydrocephalus, nonsyndromic, autosomal recessive 2 0 1 0 0 1
Hyper-IgM syndrome type 2 0 1 0 0 1
Hyperlipoproteinemia, type 1D 0 1 0 0 1
Hypertelorism; Cleft lip/palate; Abnormal pinna morphology; Tethered cord; Long fingers; imperforate anus with fistula 0 1 0 0 1
Hypoglycemia; Abnormality of the liver 0 1 0 0 1
Hypomyelinating leukodystrophy 11 0 1 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome; Autosomal recessive Kenny-Caffey syndrome 0 1 0 0 1
Hypoplastic left heart syndrome 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 0 1 0 0 1
Infantile liver failure syndrome 1 0 1 0 0 1
Infantile-onset generalized dyskinesia with orofacial involvement; Striatal degeneration, autosomal dominant 2 0 1 0 0 1
Intellectual disability, autosomal recessive 5 0 1 0 0 1
Intellectual disability, short stature, facial anomalies, and joint dislocations 1 0 0 0 1
Intellectual disability-strabismus syndrome 0 1 0 0 1
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 0 1 0 0 1
Joubert syndrome 14 0 1 0 0 1
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 0 1 0 0 1
Leber optic atrophy 1 0 0 0 1
Lethal acantholytic epidermolysis bullosa 1 0 0 0 1
Lethal congenital contracture syndrome 11 0 1 0 0 1
Loeys-Dietz syndrome 1 1 0 0 0 1
Long QT syndrome 0 1 0 0 1
Long QT syndrome 1 1 0 0 0 1
Long QT syndrome 2 1 0 0 0 1
Lymphatic malformation 6 0 1 0 0 1
Lynch syndrome 5 1 0 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 1 0 0 0 1
Malignant tumor of esophagus; Autosomal recessive spinocerebellar ataxia 12; Developmental and epileptic encephalopathy, 28 0 1 0 0 1
Maturity-onset diabetes of the young type 3 1 0 0 0 1
Meconium ileus 0 1 0 0 1
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblJ 0 1 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 1 0 0 1
Microcephaly 15, primary, autosomal recessive 0 1 0 0 1
Microcephaly and chorioretinopathy 1 0 0 1 0 1
Microcephaly, seizures, and developmental delay 0 1 0 0 1
Mitochondrial DNA depletion syndrome 13 0 1 0 0 1
Mitochondrial hearing loss 1 0 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 1 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 0 0 0 1
Multiple endocrine neoplasia, type 2 1 0 0 0 1
Multiple mitochondrial dysfunctions syndrome 1 0 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 0 1 0 0 1
Nemaline myopathy 5 0 1 0 0 1
Nemaline myopathy 8 0 1 0 0 1
Neonatal-onset encephalopathy with rigidity and seizures 1 0 0 0 1
Nephrotic syndrome, type 3 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 0 1
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 0 1 0 0 1
Oculocutaneous albinism type 1B 1 0 0 0 1
Orofaciodigital syndrome I 1 0 0 0 1
Osteochondritis dissecans 1 0 0 0 1
Osteogenesis imperfecta type 11 0 1 0 0 1
Osteopetrosis with renal tubular acidosis 0 1 0 0 1
Pectus excavatum; Nystagmus; Microcephaly; Hypotonia; visual disturbance 0 1 0 0 1
Polycystic kidney disease 4 1 0 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 0 1
Primary Immune Deficiency 0 1 0 0 1
Primary ciliary dyskinesia 19 1 0 0 0 1
Primary ciliary dyskinesia 33 0 1 0 0 1
Primary ciliary dyskinesia 7 0 1 0 0 1
Primary ciliary dyskinesia 9 0 1 0 0 1
Progressive encephalopathy with leukodystrophy due to DECR deficiency 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 1 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 2 0 1 0 0 1
Progressive microcephaly; Recurrent encephalopathy 0 1 0 0 1
Prolidase deficiency 0 1 0 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2 0 1 0 0 1
Pyruvate dehydrogenase E3 deficiency 1 0 0 0 1
RFT1-congenital disorder of glycosylation 0 0 1 0 1
RIN2 syndrome 0 1 0 0 1
Recessive dystrophic epidermolysis bullosa; Generalized dominant dystrophic epidermolysis bullosa 0 1 0 0 1
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 0 1 0 0 1
Roberts-SC phocomelia syndrome 0 1 0 0 1
SGSM3-related intellectual disability 0 1 0 0 1
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES; Developmental delay with autism spectrum disorder and gait instability 0 1 0 0 1
SRD5A3-congenital disorder of glycosylation; Kahrizi syndrome 0 1 0 0 1
Schimke immuno-osseous dysplasia 0 1 0 0 1
Seckel syndrome 7 0 1 0 0 1
Sengers syndrome 0 1 0 0 1
Severe combined immunodeficiency due to LCK deficiency 0 1 0 0 1
Short stature; Abnormal facial shape 0 0 1 0 1
Sideroblastic anemia 2 0 1 0 0 1
Sjögren-Larsson syndrome 0 1 0 0 1
Skin creases, congenital symmetric circumferential, 2 0 1 0 0 1
Spastic paraplegia 82, autosomal recessive 0 1 0 0 1
Spastic tetraplegia and axial hypotonia, progressive 0 1 0 0 1
Specific granule deficiency 2 0 1 0 0 1
Spondylo-ocular syndrome 0 1 0 0 1
Stickler syndrome type 1 0 1 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 1 0 0 1
Synpolydactyly type 1 0 1 0 0 1
Transient infantile hypertriglyceridemia and hepatosteatosis 0 1 0 0 1
Trichohepatoenteric syndrome 1 0 1 0 0 1
Trimethylaminuria 0 1 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 0 1
Vertebral, cardiac, renal, and limb defects syndrome 1 0 1 0 0 1
Vici syndrome 0 1 0 0 1
Waardenburg syndrome type 1; Waardenburg syndrome type 3 0 1 0 0 1
Waardenburg syndrome type 4C 0 1 0 0 1
Woodhouse-Sakati syndrome 0 1 0 0 1
Xeroderma pigmentosum, group C 0 1 0 0 1
Xeroderma pigmentosum, group D 0 1 0 0 1
lethal neurodevelopmental disorder 0 1 0 0 1

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