ClinVar Miner

Variants from Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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
146 139 255 1 0 541

Gene and significance breakdown #

Total genes and gene combinations: 382
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
MECP2 3 3 1 0 7
KMT2D 3 0 3 0 6
ANKRD11 3 0 2 0 5
ASH1L 1 1 3 0 5
BRCA2 5 0 0 0 5
PTPN11 4 1 0 0 5
ABCA4 0 1 3 0 4
ATM 3 1 0 0 4
BICRA 2 1 1 0 4
CHD3 0 3 1 0 4
COL4A2 0 0 4 0 4
RYR1 1 2 1 0 4
SETD5 3 1 0 0 4
ATAD3A 0 2 1 0 3
CASK 0 2 1 0 3
CHD2 2 1 0 0 3
CHD8 0 1 2 0 3
DEPDC5 0 3 0 0 3
KCNQ1 1 1 1 0 3
KMT2A 2 1 0 0 3
LDLR 1 2 0 0 3
PTEN 2 1 0 0 3
SETD1A 1 1 1 0 3
SLC6A1 1 2 0 0 3
SYNGAP1 1 1 1 0 3
TET3 0 1 2 0 3
TTN 0 2 1 0 3
USP9X 1 0 2 0 3
VWF 1 1 1 0 3
WAC 1 2 0 0 3
ZBTB18 1 0 2 0 3
ABCB11 0 0 2 0 2
ADAT3, SCAMP4 0 0 2 0 2
AFF2 0 0 2 0 2
ALS2 0 2 0 0 2
APOB 0 1 1 0 2
ARID2 2 0 0 0 2
ASXL3 1 1 0 0 2
ATRX 0 1 1 0 2
CEP290 2 0 0 0 2
CHD5 0 1 1 0 2
DBT 0 1 1 0 2
DIS3L2 0 0 2 0 2
EFTUD2 1 0 1 0 2
EHMT1 1 0 1 0 2
EP300 0 1 1 0 2
EPM2A, EPM2A-DT, LOC129997381 0 1 1 0 2
FANCA 0 0 2 0 2
FAT4 0 0 2 0 2
FGD1 0 0 2 0 2
FGD1, TSR2 0 1 1 0 2
FGF10 0 2 0 0 2
GNAI1 0 1 1 0 2
HAX1 2 0 0 0 2
HCFC1 0 0 2 0 2
HCN1 0 0 2 0 2
HERC1 0 0 2 0 2
HEXA 2 0 0 0 2
HNRNPH2, RPL36A-HNRNPH2 0 1 1 0 2
ITGB4 1 1 0 0 2
KCNQ2 1 1 0 0 2
KIF7 0 0 2 0 2
KPTN 0 1 1 0 2
LONP1 0 1 1 0 2
MAGEL2 0 0 2 0 2
MED12 1 1 0 0 2
MEF2C 1 0 1 0 2
NAA15 0 1 1 0 2
NARS1 0 0 2 0 2
NF1 1 0 1 0 2
NFIX 0 2 0 0 2
NSD1 0 2 0 0 2
PAH 2 0 0 0 2
PKP2 1 1 0 0 2
PLP1, RAB9B 1 1 0 0 2
POGZ 0 1 1 0 2
POLR2A 0 1 1 0 2
PPFIA3 0 2 0 0 2
PPP3CA 0 1 1 0 2
PTPRQ 0 0 2 0 2
PYGM 1 1 0 0 2
RET 0 1 1 0 2
RPS6KA3 0 1 1 0 2
SATB2 0 1 1 0 2
SCN1A 0 0 2 0 2
SCN8A 0 2 0 0 2
SELENON 2 0 0 0 2
SETD1B 1 1 0 0 2
SETD2 0 0 2 0 2
SGSH 2 0 0 0 2
SLC2A1 1 0 1 0 2
SMARCA5 0 0 2 0 2
SMC1A 0 2 0 0 2
SPEN 1 0 1 0 2
SPG11 2 0 0 0 2
SPINK5 1 1 0 0 2
SRCAP 1 0 1 0 2
TCF4 0 0 2 0 2
TMEM147 0 0 2 0 2
TNR 0 0 2 0 2
TUBA1A 0 2 0 0 2
USH2A 0 0 2 0 2
VPS13B 1 1 0 0 2
YWHAG 0 1 1 0 2
ZMIZ1 0 1 1 0 2
ZNF462 1 1 0 0 2
ABCB4 0 0 1 0 1
ABCD1 0 0 1 0 1
ABCD1, PLXNB3 0 0 1 0 1
ACADVL, DLG4 0 0 1 0 1
ACAN 0 0 1 0 1
ACO2 0 0 1 0 1
ACTA2 1 0 0 0 1
ADNP 1 0 0 0 1
AGO1 0 1 0 0 1
AGXT 1 0 0 0 1
AHDC1 1 0 0 0 1
ALMS1 0 1 0 0 1
ANKRD17 1 0 0 0 1
APC 1 0 0 0 1
ARID1A 0 0 1 0 1
ARID1B 1 0 0 0 1
ARSA 1 0 0 0 1
ARX 0 0 1 0 1
ARX, LOC109610631 1 0 0 0 1
ATM, C11orf65 1 0 0 0 1
ATP1A2 0 1 0 0 1
ATP5F1A 0 0 1 0 1
ATP7A 0 1 0 0 1
BCL11A 1 0 0 0 1
BCL11B 0 1 0 0 1
CACNA1A 0 0 1 0 1
CACNA1C 0 1 0 0 1
CACNA1E 0 0 1 0 1
CARD11 0 0 1 0 1
CASR 0 1 0 0 1
CBL 1 0 0 0 1
CCDC22 0 0 1 0 1
CCDST, FLG 1 0 0 0 1
CCND2 0 1 0 0 1
CDK10 1 0 0 0 1
CDKN1C 0 0 1 0 1
CHD1 0 0 1 0 1
CHD4 0 0 1 0 1
CHD7 1 0 0 0 1
CHD7, LOC126860403 1 0 0 0 1
CHRNA1 0 0 1 0 1
CIC 0 0 1 0 1
CLCN3 0 1 0 0 1
CLCN5 0 0 1 0 1
CLTC 1 0 0 0 1
CLTC, LOC126862609 0 1 0 0 1
CNKSR2 1 0 0 0 1
CNOT1 0 0 1 0 1
COL1A2 0 1 0 0 1
COL2A1 0 1 0 0 1
COL3A1 0 0 1 0 1
COL4A5 0 1 0 0 1
COL5A2 1 0 0 0 1
COPB2 1 0 0 0 1
CPLANE1 0 0 1 0 1
CREBBP 0 1 0 0 1
CRYBA4 0 1 0 0 1
CSPP1 0 1 0 0 1
CTNND1, TMX2-CTNND1 0 1 0 0 1
CUX2 0 0 1 0 1
DDB1 0 0 1 0 1
DDX3X 0 0 1 0 1
DEAF1 0 0 1 0 1
DHX37 0 1 0 0 1
DIP2C, LOC126860807 0 0 1 0 1
DLL1 0 0 1 0 1
DMD 1 0 0 0 1
DSG2 0 1 0 0 1
DYNC1H1 0 0 1 0 1
DYNC2I2, LOC126860772 0 0 1 0 1
DYRK1A 0 1 0 0 1
EBF3 0 1 0 0 1
EHMT1, LOC130003148 1 0 0 0 1
ELP2 0 0 1 0 1
EP400 0 0 1 0 1
ERMARD 0 0 1 0 1
EZH2 1 0 0 0 1
FBN2 0 0 1 0 1
FBXO11 0 1 0 0 1
FBXO11, MSH6 0 1 0 0 1
FKRP 1 0 0 0 1
FLNA 0 0 1 0 1
FLNC 0 0 1 0 1
FOXP1 1 0 0 0 1
GABRA1 0 1 0 0 1
GABRG2 1 0 0 0 1
GALK1 0 0 1 0 1
GATA2 1 0 0 0 1
GDI1 0 0 1 0 1
GJB2 1 0 0 0 1
GLDN 0 0 1 0 1
GNAI3 0 1 0 0 1
GNAO1 1 0 0 0 1
GNB1 1 0 0 0 1
GRIA3 0 1 0 0 1
GRIN2A 0 0 1 0 1
GTF2E2 1 0 0 0 1
GUSB 0 0 1 0 1
H3-3A 0 0 1 0 1
HCN2 0 0 1 0 1
HNRNPK 0 0 1 0 1
HSD3B7 1 0 0 0 1
HUWE1 0 0 1 0 1
IDS, LOC106050102 0 0 1 0 1
IDUA 0 0 1 0 1
IDUA, SLC26A1 1 0 0 0 1
IFIH1 0 1 0 0 1
IGSF1 0 0 1 0 1
IKBKB, LOC126860373 0 0 1 0 1
IRAK1BP1, PHIP 0 0 1 0 1
IRF2BPL 0 0 1 0 1
IRF8 0 1 0 0 1
IRS4 1 0 0 0 1
ITPR1 1 0 0 0 1
JPH2 0 0 1 0 1
KAT6A 1 0 0 0 1
KCNB1 1 0 0 0 1
KCNC3 1 0 0 0 1
KCNQ5 0 0 1 0 1
KDM4B 0 0 1 0 1
KDM5B 0 0 1 0 1
KDM5C 1 0 0 0 1
KDM5C, LOC130068308 0 0 1 0 1
KDM6A 1 0 0 0 1
KIAA0586 0 0 1 0 1
KIF5A 0 0 1 0 1
KLF9-DT, TRPM3 0 1 0 0 1
KLHL15 0 0 1 0 1
KMT2C 0 0 1 0 1
KMT2E 0 0 1 0 1
KRAS 0 0 1 0 1
LIFR 1 0 0 0 1
LMNB2 0 0 1 0 1
LOC101928335, MID2 0 1 0 0 1
LOC110008580, ZIC2 0 0 1 0 1
LOC122756382, LPIN1 1 0 0 0 1
LOC126806462, SATB2 1 0 0 0 1
LOC126807238, TRAPPC11 0 0 0 1 1
LOC126862361, SLC12A3 0 0 1 0 1
LOC130055588, SOS2 0 0 1 0 1
LPIN1 0 0 1 0 1
LSS 0 0 1 0 1
MACF1 0 0 1 0 1
MAGED1 0 0 1 0 1
MAP4K4 0 1 0 0 1
MARK2 0 0 1 0 1
MARS1 0 0 1 0 1
MAST3 0 1 0 0 1
MED12L 0 0 1 0 1
MED13L 0 0 1 0 1
MICU1 1 0 0 0 1
MID1 0 0 1 0 1
MILR1, POLG2 0 0 1 0 1
MMUT 0 0 1 0 1
MORC2 0 0 1 0 1
MSH6 1 0 0 0 1
MYF5 0 0 1 0 1
MYH2, MYHAS 0 0 1 0 1
MYH3 0 0 1 0 1
MYH7 0 0 1 0 1
MYT1L 0 0 1 0 1
NCDN 0 0 1 0 1
NDN 0 0 1 0 1
NEDD4L 0 1 0 0 1
NEURL4 0 0 1 0 1
NIPBL 0 0 1 0 1
NKAP 0 1 0 0 1
NOTCH1 0 0 1 0 1
NPR2, SPAG8 0 0 1 0 1
NPRL2 0 0 1 0 1
NSDHL 0 0 1 0 1
NUP214 0 0 1 0 1
OCRL 1 0 0 0 1
OGT 0 0 1 0 1
OPHN1 0 1 0 0 1
OTC 0 0 1 0 1
OTUD7A 0 0 1 0 1
PAFAH1B1 0 0 1 0 1
PALB2 1 0 0 0 1
PBX1 0 1 0 0 1
PCDH19 0 1 0 0 1
PDE4D 1 0 0 0 1
PEX1 1 0 0 0 1
PGK1 0 0 1 0 1
PIEZO2 0 0 1 0 1
PIK3CA 0 0 1 0 1
PKD1 1 0 0 0 1
PLA2G6 0 0 1 0 1
POLG 0 0 1 0 1
PPM1D 0 1 0 0 1
PPP1R12A 0 0 1 0 1
PPP2CA 0 0 1 0 1
PRDM16 0 1 0 0 1
PRKCA 0 0 1 0 1
PRODH 0 0 1 0 1
PRPH2 0 0 1 0 1
PSTPIP1 0 0 1 0 1
PUM1 0 0 1 0 1
PURA 1 0 0 0 1
QRICH1 0 0 1 0 1
RAB11B 0 0 1 0 1
RBCK1 1 0 0 0 1
RERE 0 0 1 0 1
RFX3 0 1 0 0 1
RHOBTB2 1 0 0 0 1
RIT1 0 0 1 0 1
RNF125 0 0 1 0 1
RORA 1 0 0 0 1
RUNX1 1 0 0 0 1
SCAF4 0 0 1 0 1
SCN2A 1 0 0 0 1
SCN5A 0 1 0 0 1
SDHA 0 0 1 0 1
SEMA3E 0 0 1 0 1
SEMA6B 0 0 1 0 1
SETBP1 0 0 1 0 1
SHANK2 0 1 0 0 1
SHANK3 1 0 0 0 1
SHH 0 0 1 0 1
SLC12A1 0 1 0 0 1
SLC12A3 0 0 1 0 1
SLC6A8 0 0 1 0 1
SMARCA4 0 1 0 0 1
SMC3 0 1 0 0 1
SOS1 1 0 0 0 1
SPOP 0 0 1 0 1
SPTAN1 0 0 1 0 1
SPTBN1 0 0 1 0 1
STAT3 1 0 0 0 1
STEEP1 0 1 0 0 1
STT3A 0 1 0 0 1
SURF1 1 0 0 0 1
SYNCRIP 0 0 1 0 1
SYNE2 0 0 1 0 1
TANC2 0 0 1 0 1
TANGO2 0 1 0 0 1
TAOK1 0 1 0 0 1
TBC1D24 0 0 1 0 1
TBX3 1 0 0 0 1
TCF20 1 0 0 0 1
TCOF1 1 0 0 0 1
TECPR2 0 0 1 0 1
TEK 0 1 0 0 1
TFE3 0 0 1 0 1
THRB 0 0 1 0 1
TLK2 0 0 1 0 1
TMEM163 0 0 1 0 1
TMEM70 1 0 0 0 1
TMLHE 0 0 1 0 1
TNNC1 0 0 1 0 1
TNNT2 0 0 1 0 1
TNPO2 0 1 0 0 1
TNPO3 0 0 1 0 1
TNRC6B 0 0 1 0 1
TOM1 0 0 1 0 1
TP53 1 0 0 0 1
TRAPPC11 1 0 0 0 1
TRIO 0 1 0 0 1
TRPC3 0 0 1 0 1
TRPM3 0 0 1 0 1
TRRAP 0 0 1 0 1
TUBB2A 0 0 1 0 1
U2AF2 1 0 0 0 1
UBA2 0 1 0 0 1
USP7 0 0 1 0 1
VCL 0 0 1 0 1
WASHC5 0 0 1 0 1
WDFY3 0 0 1 0 1
WDR5 0 1 0 0 1
WNT10B 0 0 1 0 1
YME1L1 0 0 1 0 1
ZDHHC9 0 0 1 0 1
ZEB2 1 0 0 0 1
ZNF292 0 0 1 0 1
ZNF335 0 0 1 0 1
ZSWIM6 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 370
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 1 10 35 0 46
Kabuki syndrome 1 3 0 3 0 6
Intellectual disability, autosomal dominant 52 1 1 3 0 5
KBG syndrome 3 0 2 0 5
Aarskog syndrome 0 1 3 0 4
Ataxia-telangiectasia syndrome 4 0 0 0 4
Coffin-Siris syndrome 12 2 1 1 0 4
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 3 1 0 0 4
Rett syndrome 2 1 1 0 4
Snijders Blok-Campeau syndrome 0 3 1 0 4
Beck-Fahrner syndrome 0 1 2 0 3
Brain small vessel disease 2A, autosomal dominant; Hemorrhage, intracerebral, susceptibility to 0 0 3 0 3
Breast-ovarian cancer, familial, susceptibility to, 2 3 0 0 0 3
CHARGE syndrome 2 0 1 0 3
Chromosome 2q32-q33 deletion syndrome 1 1 1 0 3
DeSanto-Shinawi syndrome due to WAC point mutation 1 2 0 0 3
Developmental and epileptic encephalopathy 94 2 1 0 0 3
Epilepsy with myoclonic atonic seizures 1 2 0 0 3
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 1 1 1 0 3
Epilepsy, familial focal, with variable foci 1 0 3 0 0 3
Familial cancer of breast 2 1 0 0 3
Floating-Harbor syndrome 1 0 2 0 3
Hypercholesterolemia, familial, 1 1 2 0 0 3
Intellectual developmental disorder with autism and macrocephaly 0 1 2 0 3
Intellectual disability, autosomal dominant 22 1 0 2 0 3
Intellectual disability, autosomal dominant 5 1 1 1 0 3
Kleefstra syndrome 1 2 0 1 0 3
Macrocephaly-autism syndrome; Cowden syndrome 1 2 1 0 0 3
Malignant hyperthermia, susceptibility to, 1 1 2 0 0 3
Syndromic X-linked intellectual disability Najm type 0 2 1 0 3
Wiedemann-Steiner syndrome 2 1 0 0 3
Adrenoleukodystrophy 0 0 2 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 9 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type R18 1 0 0 1 2
Benign recurrent intrahepatic cholestasis type 2; Progressive familial intrahepatic cholestasis type 2 0 0 2 0 2
CEP290-related ciliopathy 2 0 0 0 2
Coffin-Siris syndrome 6 2 0 0 0 2
Cohen syndrome 1 1 0 0 2
Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 0 0 2 0 2
Developmental and epileptic encephalopathy, 56 0 1 1 0 2
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 2 0 0 2
Eichsfeld type congenital muscular dystrophy 2 0 0 0 2
FRAXE 0 0 2 0 2
Familial hypokalemia-hypomagnesemia 0 0 2 0 2
Fanconi anemia complementation group A 0 0 2 0 2
Glycogen storage disease, type V 1 1 0 0 2
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 1 1 0 2
Hypercholesterolemia, autosomal dominant, type B 0 1 1 0 2
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 2 0 0 2
Intellectual developmental disorder with seizures and language delay 1 1 0 0 2
Intellectual disability, X-linked 99, syndromic, female-restricted 1 0 1 0 2
Intellectual disability, X-linked, syndromic, Bain type 0 1 1 0 2
Intellectual disability, autosomal dominant 50 0 1 1 0 2
Intellectual disability, autosomal dominant 56 1 1 0 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 1 0 2
Intellectual disability-strabismus syndrome 0 0 2 0 2
Junctional epidermolysis bullosa with pyloric atresia 1 1 0 0 2
Kostmann syndrome 2 0 0 0 2
LEOPARD syndrome 1 2 0 0 0 2
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 0 2 0 2
Macrocephaly-developmental delay syndrome 0 1 1 0 2
Mandibulofacial dysostosis-microcephaly syndrome 1 0 1 0 2
Maple syrup urine disease type 2 0 1 1 0 2
Medulloblastoma 2 0 0 0 2
Methylmalonic acidemia with homocystinuria, type cblX 0 0 2 0 2
Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S 1 0 1 0 2
Mucopolysaccharidosis, MPS-III-A 2 0 0 0 2
Myoclonic epilepsy of Lafora 1 0 1 1 0 2
Myoglobinuria, acute recurrent, autosomal recessive 1 0 1 0 2
Netherton syndrome 1 1 0 0 2
Neurodevelopmental delay 0 2 0 0 2
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 0 1 1 0 2
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 0 2 0 2
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 1 0 2
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 1 1 0 2
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 1 0 1 0 2
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 0 2 0 2
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 0 0 2 0 2
Nizon-Isidor syndrome 1 0 1 0 2
Noonan syndrome 1 1 1 0 0 2
Parenti-mignot neurodevelopmental syndrome 0 1 1 0 2
Perlman syndrome 0 0 2 0 2
Phenylketonuria 2 0 0 0 2
Pitt-Hopkins syndrome 0 0 2 0 2
Prostate cancer 2 0 0 0 2
Radio-Tartaglia syndrome 1 0 1 0 2
Retinitis pigmentosa 19 0 1 1 0 2
SMARCA5-related disorder 0 0 2 0 2
Schaaf-Yang syndrome 0 0 2 0 2
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 1 0 0 2
Sotos syndrome 0 2 0 0 2
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 1 0 2
TUBA1A-associated tubulinopathy 0 2 0 0 2
Tay-Sachs disease 2 0 0 0 2
Usher syndrome type 2A; Retinitis pigmentosa 39 0 0 2 0 2
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 2 0 2
Weiss-Kruszka syndrome 1 1 0 0 2
Wilms tumor 1 2 0 0 0 2
von Willebrand disease type 2 0 1 1 0 2
46,XY sex reversal 11 0 1 0 0 1
ACCES syndrome 0 1 0 0 1
ADNP-related disorder 1 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 1
Acrodysostosis 2 with or without hormone resistance 1 0 0 0 1
Al Kaissi syndrome 1 0 0 0 1
Alstrom syndrome 0 1 0 0 1
Alternating hemiplegia of childhood 1 0 1 0 0 1
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 1 0 0 0 1
Amyotrophic lateral sclerosis, susceptibility to, 25 0 0 1 0 1
Aortic aneurysm, familial thoracic 6 1 0 0 0 1
Aortic valve disease 1; Adams-Oliver syndrome 5 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 0 1 0 1
Au-Kline syndrome 0 0 1 0 1
Auriculocondylar syndrome 1 0 1 0 0 1
Autism, susceptibility to, 17 0 1 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 1
Autosomal dominant limb-girdle muscular dystrophy type 1F 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 1A 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 0 1
BENTA disease; Immunodeficiency 11b with atopic dermatitis 0 0 1 0 1
Bartter disease type 1 0 1 0 0 1
Blepharocheilodontic syndrome 2 0 1 0 0 1
Brain small vessel disease 2A, autosomal dominant 0 0 1 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 0 1 0 1
CBL-related disorder 1 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 1
Cardiomyopathy, dilated, 2E 0 0 1 0 1
Cataract 23 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 1
Child syndrome; CK syndrome 0 0 1 0 1
Chopra-Amiel-Gordon syndrome 1 0 0 0 1
Chromosome 17q23.1-q23.2 deletion syndrome 1 0 0 0 1
Coffin-Lowry syndrome 0 1 0 0 1
Coffin-Lowry syndrome; Intellectual disability, X-linked 19 0 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 0 1 0 1
Congenital absence of salivary gland; Levy-Hollister syndrome 0 1 0 0 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 0 1
Congenital bile acid synthesis defect 1 1 0 0 0 1
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 0 1 0 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 0 1 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 1 0 0 1
Cornelia de Lange syndrome 1 0 0 1 0 1
Cornelia de Lange syndrome 3 0 1 0 0 1
Creatine transporter deficiency 0 0 1 0 1
DYRK1A-related intellectual disability syndrome 0 1 0 0 1
Deafness-lymphedema-leukemia syndrome 1 0 0 0 1
Deficiency of galactokinase 0 0 1 0 1
Dent disease type 1 0 0 1 0 1
Dermatitis, atopic, 2 1 0 0 0 1
Developmental and epileptic encephalopathy 108 0 1 0 0 1
Developmental and epileptic encephalopathy 91 0 1 0 0 1
Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 0 1 0 1
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 0 1 0 1
Developmental and epileptic encephalopathy, 26 1 0 0 0 1
Developmental and epileptic encephalopathy, 64 1 0 0 0 1
Developmental and epileptic encephalopathy, 67 0 0 1 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 1
Developmental and epileptic encephalopathy, 7 0 1 0 0 1
Developmental and epileptic encephalopathy, 9 0 1 0 0 1
Developmental delay with or without dysmorphic facies and autism 0 0 1 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 1 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 1
Developmental delay, dysmorphic facies, and brain anomalies 1 0 0 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 0 1 0 1
Dias-Logan syndrome 1 0 0 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 0 1 0 0 1
Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13 0 0 1 0 1
Ehlers-Danlos syndrome, classic type, 2 1 0 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 1
Encephalopathy, acute, infection-induced, susceptibility to, 9 0 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 0 1 0 1
Epilepsy, idiopathic generalized, susceptibility to, 13; Developmental and epileptic encephalopathy, 19 0 1 0 0 1
Epilepsy, progressive myoclonic, 11 0 0 1 0 1
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 0 0 1 0 1
Epsilon-trimethyllysine hydroxylase deficiency 0 0 1 0 1
FG syndrome 2 0 0 1 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Glioma susceptibility 3; Familial prostate cancer 1 0 0 0 1
Familial hypocalciuric hypercalcemia 1 0 1 0 0 1
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 0 1
Febrile seizures, familial, 2 0 0 1 0 1
Febrile seizures, familial, 8; Developmental and epileptic encephalopathy, 74 1 0 0 0 1
Genitourinary and/or brain malformation syndrome 0 0 1 0 1
Global developmental delay with speech and behavioral abnormalities 0 0 1 0 1
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 1 0 1
Hao-Fountain syndrome due to USP7 mutation 0 0 1 0 1
Hereditary cryohydrocytosis with reduced stomatin; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 0 0 1 0 1
Hereditary spastic paraplegia 10 0 0 1 0 1
Hereditary spastic paraplegia 11 1 0 0 0 1
Hereditary spastic paraplegia 49 0 0 1 0 1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 1 0 0 0 1
Holoprosencephaly 12 with or without pancreatic agenesis; Vissers-Bodmer syndrome 0 0 1 0 1
Holoprosencephaly 3; Microphthalmia, isolated, with coloboma 5; Solitary median maxillary central incisor syndrome 0 0 1 0 1
Holoprosencephaly 5 0 0 1 0 1
Houge-Janssens syndrome 3 0 0 1 0 1
Hypertrophic cardiomyopathy 15 0 0 1 0 1
Hyperzincemia and hypercalprotectinemia; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome 0 0 1 0 1
Hypothyroidism, congenital, nongoitrous, 9 1 0 0 0 1
Hypotonia, ataxia, and delayed development syndrome 0 1 0 0 1
Hypotrichosis 14 0 0 1 0 1
Immunodeficiency 15a 0 0 1 0 1
Immunodeficiency 85 and autoimmunity 0 0 1 0 1
Infantile cerebellar-retinal degeneration; Optic atrophy 9 0 0 1 0 1
Intellectual developmental disorder 62 0 0 1 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 0 1
Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 0 1 0 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 1 0 0 0 1
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 0 1 0 0 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 64 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 65 0 0 1 0 1
Intellectual disability, X-linked 101 0 1 0 0 1
Intellectual disability, X-linked 102 0 0 1 0 1
Intellectual disability, X-linked 103 0 0 1 0 1
Intellectual disability, X-linked 106 0 0 1 0 1
Intellectual disability, X-linked 107 0 1 0 0 1
Intellectual disability, X-linked 41 0 0 1 0 1
Intellectual disability, X-linked syndromic, Turner type 0 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 1 0 0 0 1
Intellectual disability, autosomal dominant 14 0 0 1 0 1
Intellectual disability, autosomal dominant 16 0 1 0 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 29 0 0 1 0 1
Intellectual disability, autosomal dominant 39 0 0 1 0 1
Intellectual disability, autosomal dominant 42 1 0 0 0 1
Intellectual disability, autosomal dominant 45 0 0 1 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 1
Intellectual disability, autosomal dominant 57 0 0 1 0 1
Intellectual disability, autosomal recessive 58 0 0 1 0 1
Intellectual disability-hypotonic facies syndrome, X-linked, 1 0 0 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 1
Interstitial lung disease specific to childhood 0 1 0 0 1
Joubert syndrome 21 0 1 0 0 1
Kabuki syndrome 2 1 0 0 0 1
Kleefstra syndrome 2 0 0 1 0 1
Landau-Kleffner syndrome 0 0 1 0 1
Left ventricular noncompaction 8 0 1 0 0 1
Lethal congenital contracture syndrome 11 0 0 1 0 1
Lethal multiple pterygium syndrome; Myasthenic syndrome, congenital, 1B, fast-channel 0 0 1 0 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Lipodystrophy, partial, acquired, susceptibility to; Microcephaly 27, primary, autosomal dominant 0 0 1 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 1
Lissencephaly due to LIS1 mutation 0 0 1 0 1
Long QT syndrome 1 1 0 0 0 1
Long QT syndrome 3 0 1 0 0 1
Lowe syndrome 1 0 0 0 1
Luscan-Lumish syndrome 0 0 1 0 1
Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70 0 0 1 0 1
Lynch syndrome 5 1 0 0 0 1
MAGED1-related neurodevelopmental delay 0 0 1 0 1
MAP4K4-related neurodevelopmental delay 0 1 0 0 1
MED12-Related Disorders 1 0 0 0 1
Malan overgrowth syndrome 0 1 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 0 1 0 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 1 0 0 1
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 0 1 0 0 1
Menke-Hennekam syndrome 2 0 0 1 0 1
Menkes kinky-hair syndrome 0 1 0 0 1
Metachromatic leukodystrophy 1 0 0 0 1
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 0 0 1 0 1
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 1 0 1
Microcephaly 18, primary, autosomal dominant 0 0 1 0 1
Microcephaly 19, primary, autosomal recessive 1 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 0 0 1 0 1
Mitochondrial complex IV deficiency, nuclear type 1; Charcot-Marie-Tooth disease type 4K 1 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 1 0 0 0 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 0 0 1 0 1
Mowat-Wilson syndrome 1 0 0 0 1
Mucopolysaccharidosis type 7 0 0 1 0 1
Mucopolysaccharidosis, MPS-II 0 0 1 0 1
Multiple cutaneous and mucosal venous malformations; Glaucoma 3, primary congenital, E 0 1 0 0 1
Multiple endocrine neoplasia type 2B; Pheochromocytoma; Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A 0 1 0 0 1
Myoclonus, intractable, neonatal 0 0 1 0 1
Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 0 0 1 0 1
Myopathy, proximal, and ophthalmoplegia 0 0 1 0 1
Neurodegeneration with ataxia and late-onset optic atrophy 0 0 1 0 1
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with infantile epileptic spasms 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 1 0 0 0 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies; Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 0 0 1 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 1 0 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 0 0 1 0 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 0 1
Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 0 1
Neuronopathy, distal hereditary motor, type 2B 1 0 0 0 1
Noonan syndrome 1; LEOPARD syndrome 1 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Noonan syndrome 8 0 0 1 0 1
Noonan syndrome 9 0 0 1 0 1
O'Donnell-Luria-Rodan syndrome 0 0 1 0 1
Ophthalmoplegia, external, with rib and vertebral anomalies 0 0 1 0 1
Optic atrophy 11 0 0 1 0 1
Ornithine carbamoyltransferase deficiency 0 0 1 0 1
Orofaciodigital syndrome type 6; Joubert syndrome 17 0 0 1 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type, 2; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 1 0 0 1
Osteoporosis, childhood- or juvenile-onset, with developmental delay 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 0 1
Pelizaeus-Merzbacher disease 0 1 0 0 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 1 0 0 0 1
Periventricular nodular heterotopia 6 0 0 1 0 1
Periventricular nodular heterotopia 7 0 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 1 0 0 0 1
Phelan-McDermid syndrome 1 0 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 1
Polycystic kidney disease, adult type 1 0 0 0 1
Polyglucosan body myopathy type 1 1 0 0 0 1
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 1 0 0 1
Prader-Willi syndrome 0 0 1 0 1
Primary hyperoxaluria, type I 1 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 0 0 1 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 0 0 1 0 1
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 0 0 1 0 1
Proline dehydrogenase deficiency 0 0 1 0 1
Proximal myopathy with extrapyramidal signs 1 0 0 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 0 1 0 0 1
Retinitis pigmentosa 7; Pigmentary retinal dystrophy; Patterned macular dystrophy 1; Choroidal dystrophy, central areolar 2; Vitelliform macular dystrophy 3 0 0 1 0 1
Ritscher-Schinzel syndrome 1 0 0 1 0 1
Ritscher-Schinzel syndrome 2 0 0 1 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 0 1
STAT3-related early-onset multisystem autoimmune disease 1 0 0 0 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 1 0 0 0 1
Seizures, benign familial infantile, 5 0 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 1 0 0 0 1
Selective pituitary resistance to thyroid hormone 0 0 1 0 1
Short QT syndrome type 2 1 0 0 0 1
Short-rib thoracic dysplasia 11 with or without polydactyly 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 0 1 0 1
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 0 1 0 0 1
Spinocerebellar ataxia 47 0 0 1 0 1
Spinocerebellar ataxia type 13 1 0 0 0 1
Spinocerebellar ataxia type 29 1 0 0 0 1
Spinocerebellar ataxia type 41 0 0 1 0 1
Split hand-foot malformation 6 0 0 1 0 1
Spondyloepiphyseal dysplasia, Kimberley type; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 0 1 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 1 0 0 1
Stuve-Wiedemann syndrome 1 0 0 0 1
Syndromic X-linked intellectual disability 94 0 1 0 0 1
Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome 0 1 0 0 1
Syndromic X-linked intellectual disability Raymond type 0 0 1 0 1
Tall stature-scoliosis-macrodactyly of the great toes syndrome; Short stature with nonspecific skeletal abnormalities 0 0 1 0 1
Tenorio syndrome 0 0 1 0 1
Timothy syndrome; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Trichothiodystrophy 6, nonphotosensitive 1 0 0 0 1
Ulnar-mammary syndrome 1 0 0 0 1
Ververi-Brady syndrome 0 0 1 0 1
WDR5-related neurodevelopmental delay 0 1 0 0 1
Weaver syndrome 1 0 0 0 1
White-Kernohan syndrome 0 0 1 0 1
X-linked Alport syndrome 0 1 0 0 1
X-linked Opitz G/BBB syndrome 0 0 1 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 0 1 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 1
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 1 0 0 0 1
X-linked lissencephaly with abnormal genitalia 1 0 0 0 1
von Willebrand disease type 1 1 0 0 0 1

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