ClinVar Miner

Variants from Institute of Human Genetics, Heidelberg University

Location: Germany  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
158 160 3 0 0 320

Gene and significance breakdown #

Total genes and gene combinations: 224
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CHEK2 3 5 0 7
MECP2 5 1 0 6
TTN 1 5 0 6
LDLR 2 3 0 5
PKP2 3 2 0 5
ATM, C11orf65 3 1 0 4
CAPN3 3 1 0 4
SCN5A 3 1 0 4
ANKRD11 2 1 0 3
APOB 1 2 0 3
ATM 2 1 0 3
BRCA2 2 1 0 3
GJB2 3 0 0 3
KMT2D 3 0 0 3
MC4R 0 3 0 3
MYBPC3 2 1 0 3
PTEN 3 0 0 3
TYR 1 2 0 3
AARS2 2 0 0 2
AUTS2 2 0 0 2
B3GLCT 1 1 0 2
BRCA1 1 1 0 2
CCDST, FLG 1 1 0 2
CDK13 1 1 0 2
CHD7 2 0 0 2
CLASP1, RNU4ATAC 0 2 0 2
COL3A1 0 2 0 2
COL4A1 0 2 0 2
CRELD1 2 0 0 2
DDX3X 1 1 0 2
DES 0 2 0 2
EXT2 1 1 0 2
FLNC 0 2 0 2
FOXP1 2 0 0 2
FOXP2 2 0 0 2
GNAS 1 1 0 2
HBB, LOC106099062, LOC107133510 2 0 0 2
HNRNPU 2 0 0 2
KAT6B 2 0 0 2
KCNB1 0 2 0 2
MSH6 1 1 0 2
MYH7 1 1 0 2
NAA15 1 1 0 2
NF1 1 1 0 2
PIBF1 2 0 0 2
PMM2 1 1 0 2
POLR3B 1 1 0 2
PTPN11 1 1 0 2
RET 1 1 0 2
RYR1 0 2 0 2
SACS 1 1 0 2
SEC23B 1 1 0 2
SGCA 2 0 0 2
SH3TC2 2 0 0 2
SLC2A1 0 2 0 2
SLC2A10 0 2 0 2
SMC1A 0 2 0 2
SPG11 2 0 0 2
USP53 0 2 0 2
WDR62 0 2 0 2
ZMYND11 0 2 0 2
ABCC6 1 0 0 1
ABCG5, DYNC2LI1 1 0 0 1
ABHD14A-ACY1, ACY1 0 1 0 1
ACTA2 1 0 0 1
ACTB 1 0 0 1
ADNP 0 1 0 1
ALG10, SYT10 0 0 1 1
ANOS1 0 1 0 1
AP4M1 0 1 0 1
AP4S1 1 0 0 1
APC 0 1 0 1
ARFGEF1 1 0 0 1
ARID1B 1 0 0 1
ARL10, B4GALT7, CDHR2, CLTB, DBN1, DDX41, DOK3, EIF4E1B, F12, FAF2, FAM153A, FAM153B, FAM193B, FGFR4, GPRIN1, GRK6, HIGD2A, HK3, KIAA1191, LMAN2, MXD3, NOP16, NSD1, PDLIM7, PFN3, PRELID1, PROP1, PRR7, RAB24, RGS14, RNF44, SIMC1, SLC34A1, SNCB, THOC3, TMED9, TSPAN17, UIMC1, UNC5A, ZNF346 1 0 0 1
ASPM 0 1 0 1
ASXL3 1 0 0 1
ATP1A2 1 0 0 1
ATRX 0 1 0 1
AXIN2 0 1 0 1
BRPF1 0 1 0 1
CACNA1A 0 1 0 1
CACNA1C 0 1 0 1
CACNA1I 0 1 0 1
CACNB2 0 1 0 1
CAPN3, LOC130056921 1 0 0 1
CC2D2A 0 1 0 1
CDK5RAP2 1 0 0 1
CDKN2A, LOC130001603 1 0 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, FBXW10B, HS3ST3B1, LINC02096, LOC101928475, LOC105943586, LOC105943587, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 1
CEP290 0 1 0 1
CERS1, GDF1, UPF1 0 1 0 1
CHD2 1 0 0 1
CHD3 0 1 0 1
CHD4 0 1 0 1
CHD8 1 0 0 1
CIC 0 1 0 1
CLCN1 0 1 0 1
CLCN6 0 0 1 1
CLN3 1 0 0 1
COL4A5 0 1 0 1
CPAP, RNF17 0 1 0 1
CTCF 1 0 0 1
CUL4B 0 1 0 1
DGAT1 1 0 0 1
DGAT1, LOC130001383 1 0 0 1
DLG4 1 0 0 1
DSC2 1 0 0 1
DSP 1 0 0 1
EEF1A2 1 0 0 1
EFNB1 0 1 0 1
EFTUD2 1 0 0 1
ELANE 0 1 0 1
ENG 1 0 0 1
EP300 0 1 0 1
EPHA2 1 0 0 1
EVC 0 1 0 1
F7 0 1 0 1
FBXO11 1 0 0 1
FOXP1, LOC126806714 1 0 0 1
GATAD2B 1 0 0 1
GCDH, LOC126862860, SYCE2 0 1 0 1
GCK 1 0 0 1
GHR 0 1 0 1
GRIN2B 0 1 0 1
HBB, LOC106099062, LOC107133510, LOC110006319 1 0 0 1
HERC1 1 0 0 1
HFE 1 0 0 1
HINT1 1 0 0 1
HK1 0 1 0 1
HNF1A 0 1 0 1
HUWE1 0 1 0 1
IDH2 0 1 0 1
IFT56 0 1 0 1
IQSEC2 0 1 0 1
IRF2BPL 1 0 0 1
ITGB6 0 1 0 1
KAT6A 1 0 0 1
KCND3 0 1 0 1
KCNN2 1 0 0 1
KCNQ1 0 1 0 1
KCNQ2 0 1 0 1
KDM3B 0 1 0 1
KDM5C 0 1 0 1
KDM6A 1 0 0 1
KDM6B 0 1 0 1
KIF5C 0 1 0 1
KMT2A 1 0 0 1
KMT2C 1 0 0 1
LOC102724058, SCN1A 1 0 0 1
LOC110806306, TERC 0 1 0 1
LOC126861898, MYH7 0 1 0 1
LOC130002813, PRDM12 0 1 0 1
MAGEL2 1 0 0 1
MAP3K1 0 1 0 1
MED13 0 1 0 1
MID1 0 1 0 1
MSH2 0 1 0 1
MUTYH 1 0 0 1
MYBPC1 0 1 0 1
MYCN 0 1 0 1
MYT1L 1 0 0 1
NKX2-5 0 1 0 1
NPC1 0 1 0 1
NPHP3, NPHP3-ACAD11 0 1 0 1
NR2F1 0 1 0 1
NR4A2 0 1 0 1
NUS1 0 1 0 1
PALB2 1 0 0 1
PDE6H 0 1 0 1
PIEZO2 0 1 0 1
PKHD1 1 0 0 1
PKLR 1 0 0 1
PLK4 0 1 0 1
PLOD1 0 1 0 1
POGZ 0 1 0 1
POLR3A 0 1 0 1
PRMT7 0 1 0 1
PURA 0 0 1 1
QRICH1 1 0 0 1
RAB3GAP1 0 1 0 1
RAD51D, RAD51L3-RFFL 1 0 0 1
RBCK1 1 0 0 1
RERE 0 1 0 1
RFT1 0 1 0 1
RHOBTB2 0 1 0 1
SALL4 0 1 0 1
SAMD9L 0 1 0 1
SCAF4, SOD1 0 1 0 1
SCAMP5 0 1 0 1
SCN8A 0 1 0 1
SETD5 1 0 0 1
SHANK3 1 0 0 1
SLC6A1 1 0 0 1
SMAD3 1 0 0 1
SMAD4 1 0 0 1
SMARCA4 1 0 0 1
SNHG14, UBE3A 0 1 0 1
SOS1 1 0 0 1
SOX4 0 1 0 1
SOX5 1 0 0 1
SOX9 1 0 0 1
SPTA1 0 1 0 1
SYNGAP1 1 0 0 1
TAOK1 1 0 0 1
TCAP 1 0 0 1
TCF12 1 0 0 1
TCF4 0 1 0 1
TCTN1 1 0 0 1
TEK 0 1 0 1
TGFBR1 0 1 0 1
TK2 0 1 0 1
TNNI3 1 0 0 1
TNNT3 1 0 0 1
TPM1 0 1 0 1
TRAPPC4 1 0 0 1
TREM2 0 1 0 1
TSC2 1 0 0 1
TTR 1 0 0 1
TUSC3 1 0 0 1
WASF1 1 0 0 1
WBP11 0 1 0 1
ZMYM3 1 0 0 1
ZNF148 0 1 0 1

Condition and significance breakdown #

Total conditions: 241
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Condition pathogenic likely pathogenic uncertain significance total
Familial cancer of breast 4 3 0 7
Arrhythmogenic right ventricular dysplasia 9 3 3 0 6
Autosomal recessive limb-girdle muscular dystrophy type 2A 4 1 0 5
Hypercholesterolemia, familial, 1 2 3 0 5
Rett syndrome 4 1 0 5
CHEK2-related cancer predisposition 2 2 0 4
Dilated cardiomyopathy 1G 0 4 0 4
Autosomal recessive nonsyndromic hearing loss 1A 3 0 0 3
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 3 0 3
Hypertrophic cardiomyopathy 4 2 1 0 3
Intellectual disability-severe speech delay-mild dysmorphism syndrome 3 0 0 3
KBG syndrome 2 1 0 3
Kabuki syndrome 1 3 0 0 3
Oculocutaneous albinism type 1B 1 2 0 3
Arterial tortuosity syndrome 0 2 0 2
Autism spectrum disorder due to AUTS2 deficiency 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2D 2 0 0 2
Beta-thalassemia HBB/LCRB 2 0 0 2
Brain small vessel disease 1 with or without ocular anomalies 0 2 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 1 1 0 2
Brugada syndrome 1; Long QT syndrome 3 2 0 0 2
Charcot-Marie-Tooth disease type 4C 2 0 0 2
Charlevoix-Saguenay spastic ataxia 1 1 0 2
Childhood apraxia of speech 2 0 0 2
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 0 2 0 2
Combined oxidative phosphorylation defect type 8 2 0 0 2
Congenital diarrhea 7 with exudative enteropathy 2 0 0 2
Congenital dyserythropoietic anemia, type II 1 1 0 2
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 1 0 2
Congenital muscular hypertrophy-cerebral syndrome 0 2 0 2
Cowden syndrome 1 2 0 0 2
Developmental and epileptic encephalopathy, 26 0 2 0 2
Developmental and epileptic encephalopathy, 54 2 0 0 2
Ehlers-Danlos syndrome, type 4 0 2 0 2
Encephalopathy due to GLUT1 deficiency 0 2 0 2
Exostoses, multiple, type 2 1 1 0 2
Familial cancer of breast; Ataxia-telangiectasia syndrome 2 0 0 2
Familial cancer of breast; Familial prostate cancer 0 2 0 2
Hereditary spastic paraplegia 11 2 0 0 2
Hypercholesterolemia, autosomal dominant, type B 1 1 0 2
Hypertrophic cardiomyopathy 1 1 1 0 2
Hypertrophic cardiomyopathy 26 0 2 0 2
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 1 0 2
Intellectual disability, X-linked 102 1 1 0 2
Intellectual disability, autosomal dominant 30 0 2 0 2
Intellectual disability, autosomal dominant 50 1 1 0 2
Jeffries-Lakhani neurodevelopmental syndrome 2 0 0 2
Joubert syndrome 33 2 0 0 2
Lowry-Wood syndrome 0 2 0 2
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 2 0 2
PMM2-congenital disorder of glycosylation 1 1 0 2
Peters plus syndrome 1 1 0 2
46,XY sex reversal 6 0 1 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 0 1
Achromatopsia 6 0 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 1 0 1
Amelogenesis imperfecta type 1H 0 1 0 1
Aminoacylase 1 deficiency 0 1 0 1
Amyloidosis, hereditary systemic 1 1 0 0 1
Amyotrophic lateral sclerosis type 1 0 1 0 1
Aneurysm-osteoarthritis syndrome 1 0 0 1
Angelman syndrome 0 1 0 1
Arrhythmogenic right ventricular dysplasia 11 1 0 0 1
Arthrogryposis, distal, type 1B 0 1 0 1
Arthrogryposis, distal, type 2B2 1 0 0 1
Arthrogryposis, distal, with impaired proprioception and touch 0 1 0 1
Ataxia-pancytopenia syndrome 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 1
Autosomal recessive inherited pseudoxanthoma elasticum 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 0 0 1
Baraitser-Winter syndrome 1 1 0 0 1
Biliary, renal, neurologic, and skeletal syndrome 0 1 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 1
Brugada syndrome 1 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E 1 0 0 1
Brugada syndrome 4 0 1 0 1
CHARGE syndrome 1 0 0 1
CHD7-related CHARGE syndrome 1 0 0 1
CTCF-related neurodevelopmental disorder 1 0 0 1
Camptomelic dysplasia 1 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 1 0 0 1
Cataract 6 multiple types 1 0 0 1
Central core myopathy 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 1
Coffin-Siris syndrome 10 0 1 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 1
Complex cortical dysplasia with other brain malformations 2 0 1 0 1
Congenital factor VII deficiency 0 1 0 1
Congenital insensitivity to pain-hypohidrosis syndrome 0 1 0 1
Congenital myotonia, autosomal recessive form 0 1 0 1
Craniofrontonasal syndrome 0 1 0 1
D-2-hydroxyglutaric aciduria 2 0 1 0 1
Dermatitis, atopic, 2 0 1 0 1
Dermatitis, atopic, 2; Ichthyosis vulgaris 0 1 0 1
Developmental and epileptic encephalopathy 6B 1 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 1
Developmental and epileptic encephalopathy 98 1 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 1
Developmental and epileptic encephalopathy, 64 0 1 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 1 0 0 1
Diets-Jongmans syndrome 0 1 0 1
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 1 0 0 1
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy 0 1 0 1
Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 0 1 0 1
Dominant beta-thalassemia 1 0 0 1
Dominant beta-thalassemia; Beta-thalassemia HBB/LCRB 1 0 0 1
Duane-radial ray syndrome 0 1 0 1
Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 0 1 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 0 1
Elliptocytosis 2 0 1 0 1
Ellis-van Creveld syndrome; Curry-Hall syndrome 0 1 0 1
Epilepsy with myoclonic atonic seizures 1 0 0 1
Familial adenomatous polyposis 1 0 1 0 1
Familial adenomatous polyposis 2 1 0 0 1
Feingold syndrome type 1 0 1 0 1
Fibromatosis, gingival, 1; Noonan syndrome 4 1 0 0 1
GNAS-associated disease 0 1 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 1
Global developmental delay 0 0 1 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 1 0 1
Glutaric aciduria, type 1 0 1 0 1
Hemochromatosis type 1 1 0 0 1
Hereditary liability to pressure palsies 1 0 0 1
Hereditary spastic paraplegia 50 0 1 0 1
Hereditary spastic paraplegia 52 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 0 1 0 1
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; Dilated cardiomyopathy 1S 0 1 0 1
Hypertrophic cardiomyopathy 3 0 1 0 1
Hypertrophic cardiomyopathy 7 1 0 0 1
Hypogonadotropic hypogonadism 1 with or without anosmia 0 1 0 1
Ichthyosis vulgaris 1 0 0 1
Intellectual developmental disorder 61 0 1 0 1
Intellectual developmental disorder 62 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 0 1
Intellectual developmental disorder, X-linked 112 1 0 0 1
Intellectual disability, X-linked 1 0 1 0 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 1
Intellectual disability, autosomal dominant 38; Developmental and epileptic encephalopathy, 33 1 0 0 1
Intellectual disability, autosomal dominant 39 1 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 1
Intellectual disability, autosomal dominant 5 1 0 0 1
Intellectual disability, autosomal dominant 55, with seizures 0 1 0 1
Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 0 1 0 1
Intellectual disability, autosomal recessive 7 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 1
Joubert syndrome 13 1 0 0 1
Joubert syndrome 5 0 1 0 1
Kabuki syndrome 2 1 0 0 1
Kleefstra syndrome 2 1 0 0 1
Lamb-Shaffer syndrome 1 0 0 1
Laron-type isolated somatotropin defect 0 1 0 1
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 0 1 0 1
Loeys-Dietz syndrome 1 0 1 0 1
Long QT syndrome 1; Short QT syndrome type 2 0 1 0 1
Lynch syndrome 1 0 1 0 1
Lynch syndrome 5 0 1 0 1
Lynch syndrome 5; Mismatch repair cancer syndrome 3 1 0 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 1 0 0 1
Macrocephaly-autism syndrome 1 0 0 1
Malignant hyperthermia, susceptibility to, 1 0 1 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 1
Maturity-onset diabetes of the young type 2 1 0 0 1
Maturity-onset diabetes of the young type 3 0 1 0 1
Meckel syndrome, type 6 0 1 0 1
Melanoma, cutaneous malignant, susceptibility to, 2 1 0 0 1
Microcephaly 3, primary, autosomal recessive 1 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 1
Microcephaly 6, primary, autosomal recessive; Seckel syndrome 4 0 1 0 1
Microcephaly and chorioretinopathy 2 0 1 0 1
Mitochondrial DNA depletion syndrome, myopathic form 0 1 0 1
Multiple cutaneous and mucosal venous malformations 0 1 0 1
Multiple endocrine neoplasia type 2A 0 1 0 1
Multiple endocrine neoplasia type 2B; Multiple endocrine neoplasia type 2A 1 0 0 1
Multisystemic smooth muscle dysfunction syndrome 1 0 0 1
Myhre syndrome 1 0 0 1
Neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 0 0 1 1
Neurodevelopmental disorder 0 1 0 1
Neurodevelopmental disorder with absent language and variable seizures 1 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 1 0 1
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 1 0 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 1 0 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities; Dystonia 34, myoclonic 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 1 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 1 0 1
Neurofibromatosis, type 1 1 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 1
Neuronal ceroid lipofuscinosis 3 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 1
Niemann-Pick disease, type C1 0 1 0 1
Noonan syndrome 1 1 0 0 1
Noonan syndrome 1; LEOPARD syndrome 1 0 1 0 1
Oligodontia-cancer predisposition syndrome 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 0 1 1
Phelan-McDermid syndrome; Schizophrenia 15 1 0 0 1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3 0 1 0 1
Polycystic kidney disease 4 1 0 0 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 0 1 0 1
Polyglucosan body myopathy type 1 1 0 0 1
Progressive osseous heteroplasia 1 0 0 1
Pyruvate kinase deficiency of red cells 1 0 0 1
RFT1-congenital disorder of glycosylation 0 1 0 1
Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 0 1 0 1
Rhabdoid tumor predisposition syndrome 2 1 0 0 1
Right atrial isomerism 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 1 0 1
Schaaf-Yang syndrome 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 1
Sitosterolemia 2 1 0 0 1
Snijders Blok-Campeau syndrome 0 1 0 1
Sotos syndrome 1 0 0 1
Spinocerebellar ataxia type 19/22; Brugada syndrome 9 0 1 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 1
TCF12-related craniosynostosis 1 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 1 0 0 1
Tuberous sclerosis 2 1 0 0 1
Ventricular septal defect 3 0 1 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 1 0 1
Ververi-Brady syndrome 1 1 0 0 1
Warburg micro syndrome 1 0 1 0 1
Wiedemann-Steiner syndrome 1 0 0 1
X-linked Alport syndrome 0 1 0 1
X-linked Opitz G/BBB syndrome 0 1 0 1
X-linked intellectual disability Cabezas type 0 1 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 1 0 0 1

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