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 |
47
|
118
|
20
|
1
|
0 |
186
|
Gene and significance breakdown #
Total genes and gene combinations: 102
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
SMPD1
|
19
|
22
|
0 |
0 |
41
|
GNPTAB
|
1
|
27
|
1
|
1
|
30
|
GNPTG
|
0 |
4
|
0 |
0 |
4
|
CLASP1, RNU4ATAC
|
0 |
3
|
0 |
0 |
3
|
SLCO2A1
|
0 |
3
|
0 |
0 |
3
|
DYNC2H1
|
2
|
0 |
0 |
0 |
2
|
FBXL4
|
1
|
1
|
0 |
0 |
2
|
NEK1
|
2
|
0 |
0 |
0 |
2
|
POMT1
|
2
|
0 |
0 |
0 |
2
|
RET
|
0 |
1
|
1
|
0 |
2
|
ROR2
|
1
|
1
|
0 |
0 |
2
|
RYR1
|
0 |
2
|
0 |
0 |
2
|
ZFPM2
|
0 |
0 |
2
|
0 |
2
|
ABHD5
|
1
|
0 |
0 |
0 |
1
|
ACE
|
0 |
1
|
0 |
0 |
1
|
ALDH18A1
|
0 |
1
|
0 |
0 |
1
|
ALG1
|
0 |
1
|
0 |
0 |
1
|
ALG3
|
0 |
1
|
0 |
0 |
1
|
ALMS1
|
1
|
0 |
0 |
0 |
1
|
ANTXR2
|
0 |
1
|
0 |
0 |
1
|
AP4M1
|
0 |
1
|
0 |
0 |
1
|
ARMC9
|
0 |
1
|
0 |
0 |
1
|
ARSB, LOC129994126
|
0 |
1
|
0 |
0 |
1
|
ATP1A2
|
1
|
0 |
0 |
0 |
1
|
AVEN, RYR3, RYR3-DT
|
0 |
0 |
1
|
0 |
1
|
BHLHA9
|
0 |
1
|
0 |
0 |
1
|
BPNT2
|
1
|
0 |
0 |
0 |
1
|
CASK
|
0 |
1
|
0 |
0 |
1
|
CDK8
|
1
|
0 |
0 |
0 |
1
|
CENPJ, RNF17
|
1
|
0 |
0 |
0 |
1
|
CNTNAP1
|
0 |
1
|
0 |
0 |
1
|
COL1A1
|
0 |
1
|
0 |
0 |
1
|
COL4A3, MFF-DT
|
0 |
0 |
1
|
0 |
1
|
COL4A4
|
0 |
0 |
1
|
0 |
1
|
COL6A2
|
0 |
1
|
0 |
0 |
1
|
COL6A3, LOC122889011
|
0 |
1
|
0 |
0 |
1
|
COMP
|
0 |
0 |
1
|
0 |
1
|
CRACR2A, EYA3
|
0 |
0 |
1
|
0 |
1
|
CRELD1
|
0 |
1
|
0 |
0 |
1
|
CRTAP
|
0 |
1
|
0 |
0 |
1
|
CTSA
|
1
|
0 |
0 |
0 |
1
|
CYP26B1
|
0 |
1
|
0 |
0 |
1
|
DACT3
|
0 |
0 |
1
|
0 |
1
|
ENG
|
0 |
1
|
0 |
0 |
1
|
ENPP1
|
0 |
1
|
0 |
0 |
1
|
EPG5
|
0 |
1
|
0 |
0 |
1
|
ERI1
|
0 |
1
|
0 |
0 |
1
|
ESCO2
|
0 |
1
|
0 |
0 |
1
|
F8
|
0 |
1
|
0 |
0 |
1
|
FBN1
|
0 |
1
|
0 |
0 |
1
|
FBN2
|
0 |
1
|
0 |
0 |
1
|
FGFR3
|
0 |
0 |
1
|
0 |
1
|
FKTN
|
0 |
1
|
0 |
0 |
1
|
GBA1, LOC106627981
|
1
|
0 |
0 |
0 |
1
|
GJC2
|
0 |
1
|
0 |
0 |
1
|
GMPPB
|
0 |
1
|
0 |
0 |
1
|
GPC3
|
0 |
1
|
0 |
0 |
1
|
GUSB
|
0 |
1
|
0 |
0 |
1
|
HERC1
|
0 |
1
|
0 |
0 |
1
|
HSPG2
|
0 |
1
|
0 |
0 |
1
|
KANSL1
|
1
|
0 |
0 |
0 |
1
|
KLHL40
|
0 |
1
|
0 |
0 |
1
|
LAMA2
|
0 |
1
|
0 |
0 |
1
|
LOX, SRFBP1
|
0 |
0 |
1
|
0 |
1
|
MKS1
|
0 |
1
|
0 |
0 |
1
|
MUSK
|
0 |
1
|
0 |
0 |
1
|
MYH3
|
0 |
0 |
1
|
0 |
1
|
MYO18A
|
0 |
0 |
1
|
0 |
1
|
NBN
|
0 |
1
|
0 |
0 |
1
|
NIPBL
|
0 |
0 |
1
|
0 |
1
|
NOG
|
0 |
1
|
0 |
0 |
1
|
OCLN
|
0 |
1
|
0 |
0 |
1
|
PAX1
|
0 |
1
|
0 |
0 |
1
|
PCDH12, RNF14
|
0 |
1
|
0 |
0 |
1
|
PCDH19
|
0 |
1
|
0 |
0 |
1
|
PDE10A
|
0 |
1
|
0 |
0 |
1
|
PEX1
|
0 |
1
|
0 |
0 |
1
|
PHGDH
|
1
|
0 |
0 |
0 |
1
|
PKHD1
|
1
|
0 |
0 |
0 |
1
|
PLD1
|
0 |
1
|
0 |
0 |
1
|
PLOD2
|
1
|
0 |
0 |
0 |
1
|
PPIB, SNX22
|
0 |
0 |
1
|
0 |
1
|
PPT1
|
0 |
1
|
0 |
0 |
1
|
PTPN11
|
1
|
0 |
0 |
0 |
1
|
RPGRIP1
|
0 |
1
|
0 |
0 |
1
|
RPGRIP1L
|
0 |
1
|
0 |
0 |
1
|
RXYLT1
|
0 |
1
|
0 |
0 |
1
|
RYR3
|
1
|
0 |
0 |
0 |
1
|
SERPINA11
|
0 |
1
|
0 |
0 |
1
|
SGSH
|
0 |
1
|
0 |
0 |
1
|
SLC25A15
|
0 |
0 |
1
|
0 |
1
|
SLC26A2
|
1
|
0 |
0 |
0 |
1
|
SLC6A5
|
0 |
0 |
1
|
0 |
1
|
SYNE1
|
0 |
1
|
0 |
0 |
1
|
TMCO1
|
1
|
0 |
0 |
0 |
1
|
TSC1
|
0 |
1
|
0 |
0 |
1
|
TTC8
|
1
|
0 |
0 |
0 |
1
|
TTN
|
0 |
0 |
1
|
0 |
1
|
UCHL1
|
0 |
1
|
0 |
0 |
1
|
WDR62
|
1
|
0 |
0 |
0 |
1
|
WNT10B
|
1
|
0 |
0 |
0 |
1
|
ZNF778
|
0 |
0 |
1
|
0 |
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
total |
Mucolipidosis type II; Pseudo-Hurler polydystrophy
|
1
|
27
|
1
|
1
|
30
|
Niemann-Pick disease, type A
|
17
|
11
|
0 |
0 |
28
|
Niemann-Pick disease, type B
|
1
|
6
|
0 |
0 |
7
|
Niemann-Pick disease, type B; Niemann-Pick disease, type A
|
1
|
5
|
0 |
0 |
6
|
GNPTG-mucolipidosis
|
0 |
4
|
0 |
0 |
4
|
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
|
0 |
3
|
0 |
0 |
3
|
Osteodysplastic primordial dwarfism, type 1
|
0 |
3
|
0 |
0 |
3
|
Arthrogryposis multiplex congenita
|
0 |
0 |
2
|
0 |
2
|
Asphyxiating thoracic dystrophy 3
|
2
|
0 |
0 |
0 |
2
|
Autosomal recessive Robinow syndrome
|
1
|
1
|
0 |
0 |
2
|
Central core myopathy
|
0 |
2
|
0 |
0 |
2
|
Diaphragmatic hernia 3
|
0 |
0 |
2
|
0 |
2
|
Marfan syndrome; Congenital contractural arachnodactyly
|
0 |
2
|
0 |
0 |
2
|
Mitochondrial DNA depletion syndrome 13
|
1
|
1
|
0 |
0 |
2
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
|
2
|
0 |
0 |
0 |
2
|
Short-rib thoracic dysplasia 6 with or without polydactyly
|
2
|
0 |
0 |
0 |
2
|
Steroid-resistant nephrotic syndrome
|
0 |
0 |
2
|
0 |
2
|
ALDH18A1-related de Barsy syndrome
|
0 |
1
|
0 |
0 |
1
|
ALG1-congenital disorder of glycosylation
|
0 |
1
|
0 |
0 |
1
|
ALG3-congenital disorder of glycosylation
|
0 |
1
|
0 |
0 |
1
|
Abnormal facial shape; Intellectual disability
|
0 |
0 |
1
|
0 |
1
|
Abnormal facial shape; Megacolon
|
0 |
0 |
1
|
0 |
1
|
Abnormal facial shape; Multiple joint contractures; Hydrops fetalis
|
0 |
0 |
1
|
0 |
1
|
Abnormal facial shape; Pleural effusion; Interphalangeal joint contracture of finger; Emphysema; Increased number of skin folds
|
0 |
0 |
1
|
0 |
1
|
Achondrogenesis, type IB
|
1
|
0 |
0 |
0 |
1
|
Alstrom syndrome
|
1
|
0 |
0 |
0 |
1
|
Arterial calcification, generalized, of infancy, 1
|
0 |
1
|
0 |
0 |
1
|
Atrioventricular septal defect, susceptibility to, 2
|
0 |
1
|
0 |
0 |
1
|
Bardet-Biedl syndrome 8
|
1
|
0 |
0 |
0 |
1
|
Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
|
0 |
1
|
0 |
0 |
1
|
Bruck syndrome 2
|
1
|
0 |
0 |
0 |
1
|
Camptosynpolydactyly, complex
|
0 |
1
|
0 |
0 |
1
|
Cardiac valvular defect, developmental
|
0 |
1
|
0 |
0 |
1
|
Chondrodysplasia with joint dislocations, gPAPP type
|
1
|
0 |
0 |
0 |
1
|
Combined deficiency of sialidase AND beta galactosidase
|
1
|
0 |
0 |
0 |
1
|
Cornelia de Lange syndrome 1
|
0 |
0 |
1
|
0 |
1
|
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1
|
1
|
0 |
0 |
0 |
1
|
Developmental and epileptic encephalopathy, 9
|
0 |
1
|
0 |
0 |
1
|
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
|
0 |
1
|
0 |
0 |
1
|
Ebstein anomaly; Heart, malformation of; Abnormal facial shape; Congenital diaphragmatic hernia; Ventriculomegaly; Stillbirth; Common atrium
|
1
|
0 |
0 |
0 |
1
|
Emery-Dreifuss muscular dystrophy 4, autosomal dominant
|
0 |
1
|
0 |
0 |
1
|
Exudative retinopathy; Cerebellar ataxia; Dystonic disorder; Abnormal facial shape
|
0 |
1
|
0 |
0 |
1
|
Fetal akinesia deformation sequence 1
|
0 |
1
|
0 |
0 |
1
|
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
|
1
|
0 |
0 |
0 |
1
|
Gaucher disease perinatal lethal
|
1
|
0 |
0 |
0 |
1
|
Global developmental delay; Coarse facial features; Unilateral renal agenesis; Abnormal finger morphology
|
0 |
1
|
0 |
0 |
1
|
Hereditary factor VIII deficiency disease
|
0 |
1
|
0 |
0 |
1
|
Hereditary spastic paraplegia 50
|
0 |
1
|
0 |
0 |
1
|
Hirschsprung disease, susceptibility to, 1
|
0 |
1
|
0 |
0 |
1
|
Hyaline fibromatosis syndrome
|
0 |
1
|
0 |
0 |
1
|
Hydrops fetalis
|
1
|
0 |
0 |
0 |
1
|
Hyperekplexia 3
|
0 |
0 |
1
|
0 |
1
|
Hypomyelinating leukodystrophy 2
|
0 |
1
|
0 |
0 |
1
|
Infantile-onset generalized dyskinesia with orofacial involvement
|
0 |
1
|
0 |
0 |
1
|
Intellectual disability; Progressive spastic paraparesis
|
0 |
0 |
1
|
0 |
1
|
Joubert syndrome 30
|
0 |
1
|
0 |
0 |
1
|
Koolen-de Vries syndrome
|
1
|
0 |
0 |
0 |
1
|
LEOPARD syndrome 1
|
1
|
0 |
0 |
0 |
1
|
Leber congenital amaurosis 6
|
0 |
1
|
0 |
0 |
1
|
Leber congenital amaurosis 6; Meckel syndrome, type 1
|
0 |
1
|
0 |
0 |
1
|
Lethal congenital contracture syndrome 7
|
0 |
1
|
0 |
0 |
1
|
Lethal occipital encephalocele-skeletal dysplasia syndrome
|
0 |
1
|
0 |
0 |
1
|
Meckel syndrome, type 5
|
0 |
1
|
0 |
0 |
1
|
Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability
|
0 |
1
|
0 |
0 |
1
|
Merosin deficient congenital muscular dystrophy
|
0 |
1
|
0 |
0 |
1
|
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
|
1
|
0 |
0 |
0 |
1
|
Microcephaly, normal intelligence and immunodeficiency
|
0 |
1
|
0 |
0 |
1
|
Mucopolysaccharidosis type 6
|
0 |
1
|
0 |
0 |
1
|
Mucopolysaccharidosis type 7
|
0 |
1
|
0 |
0 |
1
|
Mucopolysaccharidosis, MPS-III-A
|
0 |
1
|
0 |
0 |
1
|
Multiple epiphyseal dysplasia type 1
|
0 |
0 |
1
|
0 |
1
|
Muscular dystrophy
|
0 |
0 |
1
|
0 |
1
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
|
0 |
1
|
0 |
0 |
1
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
|
0 |
1
|
0 |
0 |
1
|
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
|
0 |
1
|
0 |
0 |
1
|
Nemaline myopathy 8
|
0 |
1
|
0 |
0 |
1
|
Neu-Laxova syndrome 1
|
1
|
0 |
0 |
0 |
1
|
Neuronal ceroid lipofuscinosis 1
|
0 |
1
|
0 |
0 |
1
|
Obesity; Global developmental delay; Seizure; Microcephaly
|
0 |
0 |
1
|
0 |
1
|
Osteogenesis imperfecta
|
0 |
0 |
1
|
0 |
1
|
Osteogenesis imperfecta type 7
|
0 |
1
|
0 |
0 |
1
|
Osteogenesis imperfecta, perinatal lethal
|
0 |
1
|
0 |
0 |
1
|
Otofaciocervical syndrome 2
|
0 |
1
|
0 |
0 |
1
|
Pericardial effusion; Pleural effusion
|
0 |
1
|
0 |
0 |
1
|
Peroxisome biogenesis disorder 1A (Zellweger)
|
0 |
1
|
0 |
0 |
1
|
Polycystic kidney disease 4
|
1
|
0 |
0 |
0 |
1
|
Pseudo-TORCH syndrome 1
|
0 |
1
|
0 |
0 |
1
|
Renal tubular dysgenesis
|
0 |
1
|
0 |
0 |
1
|
Roberts-SC phocomelia syndrome
|
0 |
1
|
0 |
0 |
1
|
Schwartz-Jampel syndrome
|
0 |
1
|
0 |
0 |
1
|
Seckel syndrome 4
|
1
|
0 |
0 |
0 |
1
|
Short stature
|
0 |
0 |
1
|
0 |
1
|
Simpson-Golabi-Behmel syndrome type 1
|
0 |
1
|
0 |
0 |
1
|
Split hand-foot malformation 6
|
1
|
0 |
0 |
0 |
1
|
Syndromic X-linked intellectual disability Najm type; FG syndrome 4
|
0 |
1
|
0 |
0 |
1
|
Tarsal-carpal coalition syndrome
|
0 |
1
|
0 |
0 |
1
|
Telangiectasia, hereditary hemorrhagic, type 1
|
0 |
1
|
0 |
0 |
1
|
Thanatophoric dysplasia type 1
|
0 |
0 |
1
|
0 |
1
|
Triglyceride storage disease with ichthyosis
|
1
|
0 |
0 |
0 |
1
|
Tuberous sclerosis 1
|
0 |
1
|
0 |
0 |
1
|
Ullrich congenital muscular dystrophy 1A
|
0 |
1
|
0 |
0 |
1
|
Vici syndrome
|
0 |
1
|
0 |
0 |
1
|
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health behavior solely on the basis of information contained on
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