ClinVar Miner

Variants from Breda Genetics srl

Location: Italy  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
41 44 157 6 1 249

Gene and significance breakdown #

Total genes and gene combinations: 219
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
UNC80 0 2 3 0 0 5
LAMA2 1 2 1 0 0 4
GAA 1 1 1 0 0 3
NDUFS1 0 0 3 0 0 3
AHI1 2 0 0 0 0 2
AUTS2 0 0 2 0 0 2
BIN1 0 0 2 0 0 2
COL1A1 1 0 1 0 0 2
COL7A1 0 0 2 0 0 2
GALT 2 0 0 0 0 2
GRIA4 0 0 2 0 0 2
KANSL1 0 1 1 0 0 2
KMT2D 1 1 0 0 0 2
L2HGDH 1 0 1 0 0 2
MORC2 1 0 1 0 0 2
NDUFB11 0 0 2 0 0 2
PLEKHG2 0 0 2 0 0 2
SLC12A1 0 1 1 0 0 2
SMC1A 0 2 0 0 0 2
SON 1 0 1 0 0 2
STAG3 0 2 0 0 0 2
SYNE1 0 1 1 0 0 2
WFS1 1 1 0 0 0 2
AARS1 0 0 1 0 0 1
ABCA12 0 0 1 0 0 1
ABCA12, SNHG31 1 0 0 0 0 1
ABCD4 0 0 1 0 0 1
ACAN 0 0 1 0 0 1
AGRN 0 0 1 0 0 1
ALDH18A1 0 0 1 0 0 1
ANAPC15, LRTOMT, TOMT 0 0 1 0 0 1
ANK2, LOC126807137 0 0 1 0 0 1
ANXA11 0 0 1 0 0 1
AP2M1 0 0 1 0 0 1
ARID2 0 0 1 0 0 1
ASXL3 0 1 0 0 0 1
ATAD3A 0 0 1 0 0 1
BMPR1B 0 0 1 0 0 1
C19orf12 0 0 1 0 0 1
C4B 0 1 0 0 0 1
CACNA1A 0 1 0 0 0 1
CACNB4 0 0 1 0 0 1
CASQ1 0 0 1 0 0 1
CAV3 0 0 1 0 0 1
CCN6 1 0 0 0 0 1
CDK13 0 0 1 0 0 1
CFAP298, CFAP298-TCP10L 0 0 1 0 0 1
CHRNA4, LOC126863087 0 0 1 0 0 1
CIC 0 0 1 0 0 1
COL12A1 0 0 1 0 0 1
COL4A2 0 1 0 0 0 1
COL6A3 0 0 1 0 0 1
COQ8A 0 0 1 0 0 1
CRYGA 0 0 0 1 0 1
CUL4B 0 0 1 0 0 1
CUL7 1 0 0 0 0 1
DDHD1 0 1 0 0 0 1
DLL1, LOC126859913 0 0 1 0 0 1
DNM1 0 0 1 0 0 1
DNM2 0 0 1 0 0 1
DRD3 0 0 1 0 0 1
DSG2 0 1 0 0 0 1
DST 0 0 1 0 0 1
EBF3 0 0 1 0 0 1
EDC3 0 0 1 0 0 1
EHMT1 0 1 0 0 0 1
ENG 1 0 0 0 0 1
ERCC6 0 0 1 0 0 1
ERCC8 1 0 0 0 0 1
ERCC8, NDUFAF2 1 0 0 0 0 1
ERLIN2 0 1 0 0 0 1
ERMARD 0 0 1 0 0 1
EVC 0 0 1 0 0 1
EXT1 1 0 0 0 0 1
EXT2 1 0 0 0 0 1
FBN2, LOC126807501 0 0 1 0 0 1
FBXO11, LOC100506235 0 0 1 0 0 1
FGFR3 1 0 0 0 0 1
FLAD1 0 0 1 0 0 1
FLNB 0 0 1 0 0 1
FLNC 0 0 1 0 0 1
FMN2, LOC126806069 0 0 1 0 0 1
FN1 0 0 1 0 0 1
FOXC1 0 0 1 0 0 1
FRAS1 0 0 1 0 0 1
GATAD2B 0 1 0 0 0 1
GCM2 0 0 1 0 0 1
GJB2 1 0 0 0 0 1
GMPPB 0 0 1 0 0 1
GPHN, RDH12 1 0 0 0 0 1
GRIN2B 1 0 0 0 0 1
H1-4 1 0 0 0 0 1
HELLS 0 0 1 0 0 1
HIVEP2 0 0 1 0 0 1
HNRNPH2, RPL36A-HNRNPH2 1 0 0 0 0 1
HNRNPU 0 0 0 1 0 1
HRAS, LRRC56 1 0 0 0 0 1
HSD17B10 0 1 0 0 0 1
HUWE1 0 0 1 0 0 1
IFIH1 0 0 1 0 0 1
IKBKB 0 0 1 0 0 1
IRF2BPL 0 0 1 0 0 1
KAT5 0 0 1 0 0 1
KCNMA1 0 0 1 0 0 1
KCNQ2 0 1 0 0 0 1
KDM5C 0 1 0 0 0 1
KDM6A 1 0 0 0 0 1
KIF14 0 0 1 0 0 1
KIF1A 0 0 1 0 0 1
KIF5A 0 0 1 0 0 1
KMT2C 0 0 1 0 0 1
LDB3 0 0 1 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 1
LOC112872299, RAB7A 0 0 1 0 0 1
LOC126806433, TTN 0 0 1 0 0 1
LOC126806490, UNC80 0 0 1 0 0 1
LOC126859837, SYNE1 0 0 1 0 0 1
LRP5 0 1 0 0 0 1
MACF1 0 0 1 0 0 1
MANBA 0 0 1 0 0 1
MAP1B 0 0 1 0 0 1
MCM9 0 0 1 0 0 1
MED12L, P2RY12 0 0 1 0 0 1
MED17 0 0 1 0 0 1
MEGF10 0 0 1 0 0 1
METTL5 0 0 1 0 0 1
MT-ND5, MT-ND6 1 0 0 0 0 1
MT-TK 1 0 0 0 0 1
MTMR2 0 0 1 0 0 1
MYLK2 0 0 1 0 0 1
MYO7A 0 0 1 0 0 1
MYO9A 0 0 1 0 0 1
NAGS 0 0 1 0 0 1
NEB 0 0 1 0 0 1
NEB, RIF1 0 1 0 0 0 1
NEXMIF 0 0 1 0 0 1
NLRP12 0 1 0 0 0 1
NOD2 0 0 0 1 0 1
NPC1 1 0 0 0 0 1
NRXN1 0 1 0 0 0 1
NSUN2 0 0 1 0 0 1
NT5C2 0 1 0 0 0 1
PACS1 1 0 0 0 0 1
PCDH19 0 0 1 0 0 1
PCLO 0 0 1 0 0 1
PDHA1 0 0 1 0 0 1
PHEX 0 1 0 0 0 1
PIGB 0 0 1 0 0 1
PIGU 0 0 1 0 0 1
PJVK 0 0 1 0 0 1
PKD1 0 1 0 0 0 1
PKD2 0 0 1 0 0 1
PLXNA1 0 0 1 0 0 1
POLR2A 0 0 1 0 0 1
POMGNT2 0 0 1 0 0 1
PROKR2 0 0 1 0 0 1
PTCD3 0 0 1 0 0 1
PTEN 1 0 0 0 0 1
PURA 0 1 0 0 0 1
QARS1 0 0 1 0 0 1
RBP3 0 1 0 0 0 1
REEP1 0 0 1 0 0 1
RERE 0 0 1 0 0 1
RHOBTB2 0 0 1 0 0 1
RIPK1 0 0 1 0 0 1
RNF13 0 0 1 0 0 1
RORA 0 0 1 0 0 1
RPGR 0 0 0 1 0 1
RTN2 0 0 1 0 0 1
RUSC2 0 0 1 0 0 1
RYR1 0 0 1 0 0 1
SAMD9 0 1 0 0 0 1
SATB2 1 0 0 0 0 1
SBF1 0 0 1 0 0 1
SCN1A 0 1 0 0 0 1
SCN1A, SCN9A 0 0 1 0 0 1
SCN2A 0 0 1 0 0 1
SCN5A 0 0 1 0 0 1
SCN8A 0 0 1 0 0 1
SELENON 1 0 0 0 0 1
SETD1B 0 0 1 0 0 1
SETD5 0 0 1 0 0 1
SIN3A 0 0 1 0 0 1
SKI 0 0 1 0 0 1
SLC52A2 0 0 1 0 0 1
SLC7A6OS 0 0 1 0 0 1
SMARCA2 0 0 1 0 0 1
SNAP25 0 1 0 0 0 1
SNIP1 0 0 1 0 0 1
SNX14 0 0 1 0 0 1
SP7 0 0 1 0 0 1
SPECC1L, SPECC1L-ADORA2A 0 0 1 0 0 1
SPINK5 0 0 1 0 0 1
STT3A 0 0 1 0 0 1
SYNE2 0 0 0 1 0 1
TAF13 0 1 0 0 0 1
TBCE 0 0 1 0 0 1
TCN2 0 1 0 0 0 1
TENM4 0 0 1 0 0 1
TJP2 0 0 1 0 0 1
TMEM38B 0 0 1 0 0 1
TNFRSF13B 0 0 1 0 0 1
TNXB 0 0 1 0 0 1
TP53 0 0 1 0 0 1
TPK1 1 0 0 0 0 1
TPM2 1 0 0 0 0 1
TRAPPC11 0 1 0 0 0 1
TRAPPC9 1 0 0 0 0 1
TRIP12 0 1 0 0 0 1
TSEN2 0 0 1 0 0 1
TTN 0 0 1 0 0 1
TTR 1 0 0 0 0 1
TUBGCP4 0 1 0 0 0 1
UROD 0 1 0 0 0 1
VSX1 0 0 0 0 1 1
WASHC5 0 0 1 0 0 1
WNT10A 1 0 0 0 0 1
ZIC3 0 0 1 0 0 1
ZMIZ1 0 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 219
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 2 4 0 0 6
Glycogen storage disease, type II 1 1 1 0 0 3
Merosin deficient congenital muscular dystrophy 1 2 0 0 0 3
Mitochondrial complex 1 deficiency, nuclear type 5 0 0 3 0 0 3
Autism spectrum disorder due to AUTS2 deficiency 0 0 2 0 0 2
Autosomal recessive congenital ichthyosis 4A 1 0 1 0 0 2
Bartter disease type 1 0 1 1 0 0 2
COL7A1-related epidermolysis bullosa 0 0 2 0 0 2
Cockayne syndrome type 1 2 0 0 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2 0 0 0 0 2
Developmental and epileptic encephalopathy 6B 1 1 0 0 0 2
Joubert syndrome 3 2 0 0 0 0 2
Kabuki syndrome 1 1 1 0 0 0 2
Koolen-de Vries syndrome 0 1 1 0 0 2
L-2-hydroxyglutaric aciduria 1 0 1 0 0 2
Leukodystrophy and acquired microcephaly with or without dystonia; 0 0 2 0 0 2
Linear skin defects with multiple congenital anomalies 3 0 0 2 0 0 2
Myopathy, centronuclear, 2 0 0 2 0 0 2
Nemaline myopathy 2 0 1 1 0 0 2
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 2 0 0 2
Premature ovarian failure 8 0 2 0 0 0 2
Wolfram syndrome 1 1 1 0 0 0 2
ZTTK syndrome 1 0 1 0 0 2
3M syndrome 1 1 0 0 0 0 1
46,XX ovarian dysgenesis-short stature syndrome 0 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 0 1 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 0 1
Amyotrophic lateral sclerosis type 23 0 0 1 0 0 1
Apnea; Generalized hypotonia; Limb dystonia 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 0 1
Arthrogryposis multiplex congenita 3, myogenic type 0 0 1 0 0 1
Arthrogryposis, distal, type 1A; Congenital myopathy 23 1 0 0 0 0 1
Autoinflammation with episodic fever and lymphadenopathy 0 0 1 0 0 1
Autoinflammatory syndrome 0 0 0 1 0 1
Autosomal dominant centronuclear myopathy 0 0 1 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 1 0 0 1 0 0 1
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 1 0 0 1
Autosomal recessive ataxia, Beauce type 0 0 1 0 0 1
Autosomal recessive complex spastic paraplegia type 9B 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type R18 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 2 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 63 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 20 0 0 1 0 0 1
Axenfeld-Rieger syndrome type 3 0 0 1 0 0 1
Beta-D-mannosidosis 0 0 1 0 0 1
Bethlem myopathy 1A 0 0 1 0 0 1
Bethlem myopathy 2 0 0 1 0 0 1
Brown-Vialetto-van Laere syndrome 2 0 0 1 0 0 1
COL1A1-related osteogenesis imperfecta 0 0 1 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 0 1
Central core myopathy 0 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 2B 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4B1 0 0 1 0 0 1
Charcot-Marie-Tooth disease type 4B3 0 0 1 0 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 1 0 0 0 0 1
Cholestasis, progressive familial intrahepatic, 4 0 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 0 1
Clark-Baraitser syndrome 0 1 0 0 0 1
Cockayne syndrome type 2 0 0 1 0 0 1
Coffin-Siris syndrome 6 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 51 0 0 1 0 0 1
Complement component 4b deficiency 0 1 0 0 0 1
Congenital contractural arachnodactyly 0 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 0 1
Congenital myasthenic syndrome 8 0 0 1 0 0 1
Costello syndrome 1 0 0 0 0 1
Craniofacial anomalies and anterior segment dysgenesis syndrome 0 0 0 0 1 1
Curry-Hall syndrome 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 13 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 29 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 54 0 0 0 1 0 1
Developmental and epileptic encephalopathy, 64 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 73 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 80 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 9 0 0 1 0 0 1
Developmental cataract 0 0 0 1 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 1 0 0 0 0 1
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 0 0 1 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 0 1
Dilated cardiomyopathy 1E 0 0 1 0 0 1
Dilated cardiomyopathy 1G 0 0 1 0 0 1
Dworschak-Punetha neurodevelopmental syndrome 0 0 1 0 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 1 0 0 1
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion 1 0 0 0 0 1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 9 0 0 1 0 0 1
Epilepsy, progressive myoclonic, 12 0 0 1 0 0 1
Exostoses, multiple, type 1 1 0 0 0 0 1
Exostoses, multiple, type 2 1 0 0 0 0 1
FGFR3-related disorder 1 0 0 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 0 0 0 1
Familial cold autoinflammatory syndrome 2 0 1 0 0 0 1
Familial porphyria cutanea tarda 0 1 0 0 0 1
Fraser syndrome 1 0 0 1 0 0 1
Generalized epilepsy with febrile seizures plus 0 0 1 0 0 1
Glycosylphosphatidylinositol biosynthesis defect 21 0 0 1 0 0 1
HSD10 mitochondrial disease 0 1 0 0 0 1
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type 6 0 0 1 0 0 1
Hereditary spastic paraplegia 10 0 0 1 0 0 1
Hereditary spastic paraplegia 12 0 0 1 0 0 1
Hereditary spastic paraplegia 28 0 1 0 0 0 1
Hereditary spastic paraplegia 31; Neuronopathy, distal hereditary motor, type 5B 0 0 1 0 0 1
Hereditary spastic paraplegia 45 0 1 0 0 0 1
Hyperammonemia, type III 0 0 1 0 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy 9 0 0 1 0 0 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 1 0 0 1
Hypohidrotic ectodermal dysplasia 1 0 0 0 0 1
Hypoparathyroidism, familial isolated, 2 0 0 1 0 0 1
Hypoparathyroidism-retardation-dysmorphism syndrome 0 0 1 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 0 1 0 0 1
Immunodeficiency, common variable, 2 0 0 1 0 0 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 4 0 0 1 0 0 1
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0 0 1 0 0 1
Intellectual developmental disorder 60 with seizures 0 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 72 0 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 0 0 1
Intellectual disability, autosomal dominant 43 0 0 1 0 0 1
Intellectual disability, autosomal dominant 45 0 0 1 0 0 1
Intellectual disability, autosomal dominant 6 1 0 0 0 0 1
Intellectual disability, autosomal recessive 13 1 0 0 0 0 1
Intellectual disability, autosomal recessive 47 0 0 1 0 0 1
Intellectual disability, autosomal recessive 5 0 0 1 0 0 1
Intellectual disability, autosomal recessive 50 0 0 1 0 0 1
Intellectual disability, autosomal recessive 60 0 1 0 0 0 1
Intellectual disability, autosomal recessive 61 0 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 1
Kabuki syndrome 2 1 0 0 0 0 1
Kleefstra syndrome 1 0 1 0 0 0 1
Kleefstra syndrome 2 0 0 1 0 0 1
Larsen syndrome 0 0 1 0 0 1
Leber congenital amaurosis 13 1 0 0 0 0 1
Leigh syndrome 1 0 0 0 0 1
Li-Fraumeni syndrome 1 0 0 1 0 0 1
Liang-Wang syndrome 0 0 1 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Long QT syndrome 9 0 0 1 0 0 1
MEGF10-related myopathy 0 0 1 0 0 1
MT-TK-related mitochondrial disorder 1 0 0 0 0 1
Merosin deficient congenital muscular dystrophy; Muscular dystrophy, limb-girdle, autosomal recessive 23 0 0 1 0 0 1
Methylmalonic acidemia with homocystinuria, type cblJ 0 0 1 0 0 1
Microcephaly 20, primary, autosomal recessive 0 0 1 0 0 1
Microcephaly and chorioretinopathy 3 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 0 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 0 0 1 0 0 1
Myasthenic syndrome, congenital, 24, presynaptic 0 0 1 0 0 1
Myofibrillar myopathy 5 0 0 1 0 0 1
Myopathy due to calsequestrin and SERCA1 protein overload 0 0 1 0 0 1
Myopathy with abnormal lipid metabolism 0 0 1 0 0 1
Netherton syndrome 0 0 1 0 0 1
Neurodegeneration with brain iron accumulation 4 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 1 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 1 0 0 1
Neuropathy, hereditary sensory, type 2C 0 0 1 0 0 1
Nicolaides-Baraitser syndrome 0 0 1 0 0 1
Niemann-Pick disease, type C1 1 0 0 0 0 1
Nizon-Isidor syndrome 0 0 1 0 0 1
Normophosphatemic familial tumoral calcinosis 0 1 0 0 0 1
Osteochondritis dissecans 0 0 1 0 0 1
Osteogenesis imperfecta type 12 0 0 1 0 0 1
Osteogenesis imperfecta type 14 0 0 1 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 0 1
Osteoporosis with pseudoglioma 0 1 0 0 0 1
PTEN-related disorder 1 0 0 0 0 1
Periventricular nodular heterotopia 6 0 0 1 0 0 1
Periventricular nodular heterotopia 9 0 0 1 0 0 1
Pitt-Hopkins-like syndrome 2 0 1 0 0 0 1
Polycystic kidney disease 2 0 0 1 0 0 1
Polycystic kidney disease, adult type 0 1 0 0 0 1
Pontocerebellar hypoplasia type 2B 0 0 1 0 0 1
Pontocerebellar hypoplasia type 3 0 0 1 0 0 1
Porencephaly 2 0 1 0 0 0 1
Primary ciliary dyskinesia 26 0 0 1 0 0 1
Progressive pseudorheumatoid dysplasia 1 0 0 0 0 1
Psychomotor retardation, epilepsy, and craniofacial dysmorphism 0 0 1 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 0 1 0 0 1
Rahman syndrome 1 0 0 0 0 1
Retinitis pigmentosa 66 0 1 0 0 0 1
Ritscher-Schinzel syndrome 1 0 0 1 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 0 1 0 0 1
SNAP25-related early-onset developmental and epileptic encephalopathy 0 1 0 0 0 1
STT3A-congenital disorder of glycosylation 0 0 1 0 0 1
Schuurs-Hoeijmakers syndrome 1 0 0 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 0 0 1
Severe combined immunodeficiency due to IKK2 deficiency 0 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 0 1 0 0 0 1
Shprintzen-Goldberg syndrome 0 0 1 0 0 1
Spastic paraplegia, autosomal dominant 0 1 0 0 0 1
Spondylometaphyseal dysplasia - Sutcliffe type 0 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 0 1
Teebi hypertelorism syndrome 0 0 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 0 0 1
Transcobalamin II deficiency 0 1 0 0 0 1
Tremor, hereditary essential, 1 0 0 1 0 0 1
Tremor, hereditary essential, 5 0 0 1 0 0 1
Type A2 brachydactyly; Brachydactyly type A1D 0 0 1 0 0 1
VACTERL association, X-linked, with or without hydrocephalus 0 0 1 0 0 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3 0 0 0 1 0 1
X-linked intellectual disability Cabezas type 0 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 0 0 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.