ClinVar Miner

Variants from Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Location: Germany  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 risk factor total
163 91 80 0 0 2 336

Gene and significance breakdown #

Total genes and gene combinations: 247
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Gene or gene combination pathogenic likely pathogenic uncertain significance risk factor total
GLI3 14 1 0 0 15
PGAP3 9 0 0 0 9
NHLRC2 1 1 3 0 5
DDX3X 3 1 0 0 4
POLR3B 1 3 0 0 4
ANKRD11 3 0 0 0 3
ARID1B 1 2 0 0 3
COL1A1 3 0 0 0 3
HNRNPK 3 0 0 0 3
KYNU 3 0 0 0 3
LOC130004775, NHLRC2 1 1 1 0 3
PTPN11 1 2 0 0 3
TTN 0 1 2 0 3
AGK 2 0 0 0 2
ATP7A 1 0 1 0 2
AUTS2 1 0 1 0 2
CACNA1S 1 0 1 0 2
CAPN3 0 2 0 0 2
CARD11 0 2 0 0 2
CLTC 2 0 0 0 2
COL11A2 1 0 1 0 2
COL2A1 1 0 1 0 2
CREBBP 0 1 1 0 2
DOK7 1 1 0 0 2
DYNC1H1 1 1 0 0 2
EFTUD2 1 0 1 0 2
GBA2 0 0 2 0 2
GNE 0 2 0 0 2
HUWE1 1 0 1 0 2
IGHMBP2 0 2 0 0 2
ITPR3 0 1 1 0 2
KCNT1 0 1 1 0 2
KMT2E 1 1 0 0 2
LARP7, MIR302CHG 2 0 0 0 2
LDLR 0 2 0 0 2
LZTR1 1 1 0 0 2
MAST1 0 1 1 0 2
NSD1 1 1 0 0 2
PEX13 1 0 1 0 2
PI4KA 0 2 0 0 2
PIGT 0 0 0 2 2
PLS3 2 0 0 0 2
PMM2 2 0 0 0 2
SCN2A 1 0 1 0 2
SETD5 0 2 0 0 2
SLC12A5 1 1 0 0 2
SLC34A3 2 0 0 0 2
SPG7 2 0 0 0 2
SURF1 2 0 0 0 2
TRPM6 1 1 0 0 2
TUSC3 2 0 0 0 2
USP9X 0 0 2 0 2
VPS13B 2 0 0 0 2
ZNF335 0 0 2 0 2
ABCA2 1 0 0 0 1
ABCC9 1 0 0 0 1
ACADS 0 1 0 0 1
ACOX1 1 0 0 0 1
ACTB 1 0 0 0 1
AHI1 0 1 0 0 1
AIFM1, RAB33A 0 0 1 0 1
ALDH6A1, BBOF1 0 0 1 0 1
ANKS1B 0 0 1 0 1
ARNT2 0 0 1 0 1
ASS1 0 0 1 0 1
ATM 0 1 0 0 1
ATP2B1 0 1 0 0 1
ATP6AP1 0 1 0 0 1
ATP9A 1 0 0 0 1
ATRIP, ATRIP-TREX1, TREX1 1 0 0 0 1
ATRX 0 0 1 0 1
BCS1L 1 0 0 0 1
BICD2 0 0 1 0 1
BRAT1 1 0 0 0 1
BRCA2 1 0 0 0 1
BRCA2, LOC106721785 0 1 0 0 1
BRD4 1 0 0 0 1
BRIP1 0 1 0 0 1
BTK 0 0 1 0 1
CA2 0 1 0 0 1
CACNA1G 0 0 1 0 1
CACNA2D2, CYB561D2, LOC127898564 0 1 0 0 1
CAPRIN1 1 0 0 0 1
CASK 1 0 0 0 1
CCNH, RASA1 1 0 0 0 1
CD40LG 1 0 0 0 1
CDH2 1 0 0 0 1
CELSR1 0 0 1 0 1
CERT1 0 1 0 0 1
CHD1 0 0 1 0 1
CHD2 1 0 0 0 1
CHD3 0 1 0 0 1
CHD7 0 1 0 0 1
CHD8 1 0 0 0 1
CHEK2 1 0 0 0 1
CNGA3 1 0 0 0 1
CNKSR2 0 0 1 0 1
COA6 0 0 1 0 1
COG1, LOC126862634 1 0 0 0 1
COL17A1 1 0 0 0 1
COL1A2 1 0 0 0 1
COL3A1 1 0 0 0 1
COL4A1 0 1 0 0 1
COL6A2 1 0 0 0 1
CRLF1 1 0 0 0 1
CSNK2A1 1 0 0 0 1
CTNNB1 1 0 0 0 1
CYBB 0 1 0 0 1
DCDC2 1 0 0 0 1
DCLRE1C, MEIG1 1 0 0 0 1
DCX 1 0 0 0 1
DICER1 1 0 0 0 1
DNMT3A 1 0 0 0 1
DYNC1H1, LOC126862060 0 0 1 0 1
DYRK1A 1 0 0 0 1
EBF3 0 1 0 0 1
ECEL1 1 0 0 0 1
EGR2 0 0 1 0 1
EP300 0 1 0 0 1
ERCC6L2 1 0 0 0 1
FA2H 0 0 1 0 1
FANCA 0 1 0 0 1
FANCA, ZNF276 1 0 0 0 1
FANCD2, FANCD2OS 0 0 1 0 1
FANCD2, LOC107303338 0 0 1 0 1
FBXO11 0 1 0 0 1
FENDRR, FOXF1 1 0 0 0 1
FLNC 0 0 1 0 1
FRMPD4 0 0 1 0 1
FZD4, PRSS23 1 0 0 0 1
GJB3 0 0 1 0 1
GLUL 0 0 1 0 1
GNAO1 0 1 0 0 1
GNB2 0 1 0 0 1
GP1BA 0 1 0 0 1
GRIN1 0 1 0 0 1
GYG1 1 0 0 0 1
HK1 1 0 0 0 1
HSD17B4, LOC129994460 0 0 1 0 1
IFIH1 0 1 0 0 1
IFITM5, PGGHG 1 0 0 0 1
IQSEC2 0 0 1 0 1
IRF2BPL 0 1 0 0 1
ITGA8 1 0 0 0 1
KCNC2 0 0 1 0 1
KDM3B 0 1 0 0 1
KDM5C 1 0 0 0 1
KIF5A 0 1 0 0 1
KLHL15, LOC114022706 0 0 1 0 1
KMT2B 1 0 0 0 1
KMT2D 1 0 0 0 1
KMT2D, LOC126861520 1 0 0 0 1
KPTN 1 0 0 0 1
KSR2 0 0 1 0 1
KYNU, LOC126806361, LOC129934866 1 0 0 0 1
LARS1 0 0 1 0 1
LIG4 0 1 0 0 1
LMNA 1 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 1
LOC107303340, VHL 0 1 0 0 1
LOC126806878, TBL1XR1 0 1 0 0 1
LOC126860802, ZMYND11 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 1
MAN2C1 0 0 1 0 1
MAPKAPK5 1 0 0 0 1
MED12 0 0 1 0 1
MEIS2 0 1 0 0 1
MPV17 0 1 0 0 1
MSL3 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 1
MT-CYB 0 0 1 0 1
MT-ND1 1 0 0 0 1
MT-ND3 1 0 0 0 1
MT-ND4 1 0 0 0 1
MT-ND5 1 0 0 0 1
MT-TL1 1 0 0 0 1
MYBPC3 1 0 0 0 1
MYCBP2 0 0 1 0 1
MYH7 0 1 0 0 1
MYO5B 0 1 0 0 1
NALCN 1 0 0 0 1
NAXE 0 0 1 0 1
NBEA 0 1 0 0 1
NOTCH2 1 0 0 0 1
NR2F1 0 1 0 0 1
NSRP1 0 1 0 0 1
OFD1, TRAPPC2 0 0 1 0 1
PAK3 0 1 0 0 1
PCDH19 0 1 0 0 1
PDE10A 1 0 0 0 1
PEX1 0 0 1 0 1
PHIP 0 0 1 0 1
PIEZO2 0 0 1 0 1
PLA2G6 0 0 1 0 1
PLCB4 0 1 0 0 1
PMS2 1 0 0 0 1
POLR1C, TMEM63B 0 1 0 0 1
PORCN 0 0 1 0 1
PTEN 0 0 1 0 1
PTPRA, VPS16 1 0 0 0 1
PUM1 0 0 1 0 1
RAB3GAP1 1 0 0 0 1
RARB 0 0 1 0 1
RSPH1 0 1 0 0 1
RSPRY1 1 0 0 0 1
RUNX1 1 0 0 0 1
RYR1 1 0 0 0 1
SALL4 0 1 0 0 1
SATB1 0 1 0 0 1
SCN1A 0 0 1 0 1
SCN3A 0 0 1 0 1
SCN8A 0 1 0 0 1
SERPINC1 0 1 0 0 1
SETBP1 1 0 0 0 1
SETD1A 0 0 1 0 1
SHOC2 1 0 0 0 1
SLC11A2 0 0 1 0 1
SLC25A26 0 0 1 0 1
SLC25A36 0 0 1 0 1
SLC26A4 1 0 0 0 1
SLC2A1 0 0 1 0 1
SLC31A1 0 1 0 0 1
SMARCA2 1 0 0 0 1
SOCS1 0 1 0 0 1
SOS1 1 0 0 0 1
STK11 0 0 1 0 1
STXBP1 1 0 0 0 1
SUCLG1 0 0 1 0 1
SUZ12 1 0 0 0 1
TBL1XR1 1 0 0 0 1
TBX2 0 0 1 0 1
TCEAL1 0 0 1 0 1
TCTN1 0 0 1 0 1
THSD1 1 0 0 0 1
TMEM70 1 0 0 0 1
TP53 0 1 0 0 1
TRAPPC4 0 1 0 0 1
TRDN 1 0 0 0 1
TRIO 0 1 0 0 1
TRPM3 0 1 0 0 1
TUBA1A 1 0 0 0 1
UNG 1 0 0 0 1
VCP 0 1 0 0 1
ZBTB20 0 1 0 0 1
ZMYND11 1 0 0 0 1
ZNF292 0 1 0 0 1
ZNF462 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 204
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Condition pathogenic likely pathogenic uncertain significance risk factor total
not specified 18 9 7 0 34
not provided 0 6 4 0 10
Hyperphosphatasia with intellectual disability syndrome 4 9 0 0 0 9
Polydactyly, postaxial, type A1 8 1 0 0 9
Fibrosis, neurodegeneration, and cerebral angiomatosis 2 2 4 0 8
Au-Kline syndrome 3 1 1 0 5
Greig cephalopolysyndactyly syndrome 5 0 0 0 5
Postmenopausal osteoporosis 5 0 0 0 5
Autism spectrum disorder due to AUTS2 deficiency 2 0 2 0 4
Catel-Manzke syndrome 4 0 0 0 4
Intellectual disability, X-linked 102 2 1 1 0 4
Coffin-Siris syndrome 1 1 2 0 0 3
Intellectual disability, X-linked 99 0 0 3 0 3
Intellectual disability, autosomal dominant 30 2 1 0 0 3
KBG syndrome 3 0 0 0 3
Arthrogryposis, distal, with impaired proprioception and touch 0 0 2 0 2
Autosomal recessive distal spinal muscular atrophy 1 0 2 0 0 2
Autosomal recessive hypophosphatemic bone disease 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 2 0 2
Cohen syndrome 2 0 0 0 2
Congenital myasthenic syndrome 10 1 1 0 0 2
Developmental and epileptic encephalopathy, 34 1 1 0 0 2
Fanconi anemia complementation group A 1 1 0 0 2
Fanconi anemia complementation group D1 1 1 0 0 2
Fanconi anemia complementation group D2 0 0 2 0 2
GNE myopathy 0 2 0 0 2
Generalized epilepsy with febrile seizures plus, type 2 0 0 2 0 2
Hereditary spastic paraplegia 7 2 0 0 0 2
Hypokalemic periodic paralysis, type 1 0 0 2 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 2 0 0 2
Intellectual disability, autosomal dominant 13 0 1 1 0 2
Intellectual disability, autosomal dominant 56 2 0 0 0 2
Intellectual disability, autosomal recessive 7 2 0 0 0 2
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 2 0 0 2
Intestinal hypomagnesemia 1 1 1 0 0 2
Kabuki syndrome 1 2 0 0 0 2
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1 0 2
Menke-Hennekam syndrome 1 0 1 1 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 2 0 2
Microcephalic primordial dwarfism, Alazami type 2 0 0 0 2
Mitochondrial complex IV deficiency, nuclear type 1 2 0 0 0 2
Noonan syndrome 1 1 1 0 0 2
Noonan syndrome 2 1 1 0 0 2
O'Donnell-Luria-Rodan syndrome 1 1 0 0 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant 1 0 1 0 2
PMM2-congenital disorder of glycosylation 2 0 0 0 2
Paroxysmal nocturnal hemoglobinuria 2 0 0 0 2 2
Peroxisome biogenesis disorder 11B 1 0 1 0 2
Pierpont syndrome; Intellectual disability, autosomal dominant 41 1 1 0 0 2
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 2 0 0 2
Seizures, benign familial infantile, 3 1 0 1 0 2
Sengers syndrome 2 0 0 0 2
Syndromic X-linked intellectual disability Najm type 1 1 0 0 2
Vertebral anomalies and variable endocrine and T-cell dysfunction 1 0 1 0 2
Achromatopsia 2 1 0 0 0 1
Acyl-CoA oxidase deficiency 1 0 0 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 1 0 0 0 1
Aicardi-Goutieres syndrome 1 1 0 0 0 1
Aicardi-Goutieres syndrome 7 0 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 1 0 0 0 1
Ataxia-telangiectasia syndrome 0 1 0 0 1
Auriculocondylar syndrome 2 0 1 0 0 1
Autism; Seizure 0 0 1 0 1
Autoinflammatory syndrome with immunodeficiency 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 4 1 0 0 0 1
Baraitser-Winter syndrome 1 1 0 0 0 1
Basilicata-Akhtar syndrome 1 0 0 0 1
Bernard-Soulier syndrome, type A2, autosomal dominant 0 1 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 1
CHARGE association 0 1 0 0 1
COG1 congenital disorder of glycosylation 1 0 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 1 0 0 1
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 0 0 1 0 1
Catecholaminergic polymorphic ventricular tachycardia 5 1 0 0 0 1
Cerebellar atrophy with seizures and variable developmental delay 0 1 0 0 1
Charcot-Marie-Tooth disease type 1D 0 0 1 0 1
Citrullinemia type I 0 0 1 0 1
Cold-induced sweating syndrome 1 1 0 0 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 1 0 0 0 1
Congenital brain dysgenesis due to glutamine synthetase deficiency 0 0 1 0 1
Congenital disorder of deglycosylation 2 0 0 1 0 1
Congenital microvillous atrophy 0 1 0 0 1
DNA ligase IV deficiency 0 1 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
Deficiency of butyryl-CoA dehydrogenase 0 1 0 0 1
Developmental and epileptic encephalopathy, 13 0 1 0 0 1
Developmental and epileptic encephalopathy, 14 0 1 0 0 1
Developmental and epileptic encephalopathy, 4 1 0 0 0 1
Developmental and epileptic encephalopathy, 9 0 1 0 0 1
Diets-Jongmans syndrome 0 1 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 1
Dilated cardiomyopathy 1G 0 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 0 1
Duane-radial ray syndrome 0 1 0 0 1
Dystonia 28, childhood-onset 1 0 0 0 1
Dystonia 30 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 1 0 0 0 1
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 0 0 1 0 1
Epidermolysis bullosa, junctional 4, intermediate 1 0 0 0 1
Epilepsy, familial focal, with variable foci 4 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 1
Erythrokeratodermia variabilis et progressiva 1 0 0 1 0 1
Exudative vitreoretinopathy 1 1 0 0 0 1
Familial cancer of breast 1 0 0 0 1
Focal dermal hypoplasia 0 0 1 0 1
Global developmental delay; Seizure; Polymicrogyria; Penile hypospadias; Very long chain fatty acid accumulation 0 0 1 0 1
Glycogen storage disease XV 1 0 0 0 1
Granulomatous disease, chronic, X-linked 0 1 0 0 1
Greig cephalopolysyndactyly syndrome; Polydactyly, postaxial, type A1 1 0 0 0 1
Hajdu-Cheney syndrome 1 0 0 0 1
Hemolytic anemia due to hexokinase deficiency 1 0 0 0 1
Hereditary antithrombin deficiency 0 1 0 0 1
Hereditary spastic paraplegia 10 0 1 0 0 1
Hereditary spastic paraplegia 35 0 0 1 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 0 0 0 1
Hyper-IgM syndrome type 5 1 0 0 0 1
Hypertrichotic osteochondrodysplasia Cantu type 1 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 1
Immunodeficiency 11b with atopic dermatitis 0 1 0 0 1
Immunodeficiency 47 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 0 1 0 0 1
Intellectual disability, X-linked 1 0 0 1 0 1
Intellectual disability, X-linked 104 0 0 1 0 1
Intellectual disability, X-linked 30 0 1 0 0 1
Intellectual disability, X-linked syndromic, Turner type 1 0 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 0 1 0 1
Intellectual disability, autosomal dominant 29 1 0 0 0 1
Intellectual disability, autosomal dominant 34 0 1 0 0 1
Intellectual disability, autosomal dominant 8 0 1 0 0 1
Joubert syndrome 13 0 0 1 0 1
Joubert syndrome 3 0 1 0 0 1
Juvenile myoclonic epilepsy 1 0 0 0 1
Leber optic atrophy 0 0 1 0 1
Left ventricular noncompaction 10 1 0 0 0 1
Leigh syndrome 1 0 0 0 1
Li-Fraumeni syndrome 1 0 1 0 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 1
Lymphatic malformation 9 0 0 1 0 1
Macrocephaly-autism syndrome 0 0 1 0 1
Macrocephaly-developmental delay syndrome 1 0 0 0 1
Malignant hyperthermia, susceptibility to, 5 1 0 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 0 1
Menke-Hennekam syndrome 2 0 1 0 0 1
Menkes kinky-hair syndrome 1 0 0 0 1
Metachondromatosis 0 1 0 0 1
Methylmalonate semialdehyde dehydrogenase deficiency 0 0 1 0 1
Microcytic anemia with liver iron overload 0 0 1 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 1
Microphthalmia, syndromic 12 0 0 1 0 1
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 1 0 0 1
Mitochondrial DNA depletion syndrome 9 0 0 1 0 1
Mitochondrial complex III deficiency nuclear type 1 1 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 1 0 0 0 1
Nephronophthisis 19 1 0 0 0 1
Neurocardiofaciodigital syndrome 1 0 0 0 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 1 0 0 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 0 1 0 0 1
Neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and dysmorphic facies 0 1 0 0 1
Neurodevelopmental disorder with involuntary movements 0 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 1 0 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Okur-Chung neurodevelopmental syndrome 1 0 0 0 1
Osteopetrosis with renal tubular acidosis 0 1 0 0 1
Pancytopenia-developmental delay syndrome 1 0 0 0 1
Pectus excavatum; Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 1
Phenylketonuria 1 0 0 0 1
Primary ciliary dyskinesia 24 0 1 0 0 1
Primary dilated cardiomyopathy; Cerebellar ataxia; Intellectual disability; Polyneuropathy; Spastic paraparesis 0 0 1 0 1
Primary dilated cardiomyopathy; Intellectual disability; Polyneuropathy; Spastic paraparesis 0 0 1 0 1
Primrose syndrome 0 1 0 0 1
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 1 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 0 1 0 1
Renal hypodysplasia/aplasia 1 1 0 0 0 1
Sensorineural hearing loss disorder; Global developmental delay; Generalized-onset seizure; Normochromic microcytic anemia 0 0 1 0 1
Severe combined immunodeficiency due to CARD11 deficiency 0 1 0 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency 1 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 0 1
Sotos syndrome 0 1 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 1
Spondyloepiphyseal dysplasia tarda, X-linked 0 0 1 0 1
Spondyloepiphyseal dysplasia with metatarsal shortening 1 0 0 0 1
Spondyloepiphyseal dysplasia, Stanescu type 0 0 1 0 1
Striatal degeneration, autosomal dominant 2 1 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 1
Ullrich congenital muscular dystrophy 1A 1 0 0 0 1
Warburg micro syndrome 1 1 0 0 0 1
Webb-Dattani syndrome 0 0 1 0 1
X-linked agammaglobulinemia 0 0 1 0 1

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