ClinVar Miner

Variants from Center of Genomic medicine, Geneva, University Hospital of Geneva

Location: Switzerland  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
244 99 72 1 0 2 417

Gene and significance breakdown #

Total genes and gene combinations: 262
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign risk factor total
MYBPC3 15 1 0 0 0 16
NF1 9 1 1 0 0 11
PTPN11 7 1 0 0 0 8
ATM, C11orf65 2 2 1 0 0 5
COL4A5 3 2 0 0 0 5
FBN1 3 2 0 0 0 5
CACNA1A 2 1 1 0 0 4
COL4A3, MFF-DT 0 3 1 0 0 4
GJB2 3 1 0 0 0 4
KCNQ2 3 1 0 0 0 4
KMT2D 4 0 0 0 0 4
TMPRSS3 4 0 0 0 0 4
TSC2 4 0 0 0 0 4
TTN 4 0 0 0 0 4
ACTG1 1 2 0 0 0 3
ACVRL1 2 1 0 0 0 3
CDH23 0 2 1 0 0 3
CDKL5 3 0 0 0 0 3
CHD7 2 1 0 0 0 3
DYRK1A 2 0 1 0 0 3
RYR1 1 2 0 0 0 3
SLC12A3 3 0 0 0 0 3
SLC2A1 3 0 0 0 0 3
SPAST 1 2 0 0 0 3
STRC 2 1 0 0 0 3
TCF4 2 1 0 0 0 3
TNNT2 1 0 2 0 0 3
TYR 3 0 0 0 0 3
USH2A 1 0 2 0 0 3
VCL 0 0 3 0 0 3
WFS1 1 0 2 0 0 3
ADGRV1 2 0 0 0 0 2
ANKRD11 2 0 0 0 0 2
ASPM 1 1 0 0 0 2
ATP8B1 1 1 0 0 0 2
CATSPER2, CKMT1A, CKMT1B, PDIA3, PPIP5K1, STRC 2 1 0 0 0 2
CHRNA2 0 0 2 0 0 2
COL11A1 2 0 0 0 0 2
COL11A2 0 0 2 0 0 2
CUBN 1 1 0 0 0 2
CUL4B 1 1 0 0 0 2
DHCR7 2 0 0 0 0 2
DYNC2H1 1 1 0 0 0 2
ECHS1 1 1 0 0 0 2
ENG, LOC102723566 1 1 0 0 0 2
FGFR1 2 0 0 0 0 2
FRAS1 0 2 0 0 0 2
GATA3 2 0 0 0 0 2
GBE1 2 0 0 0 0 2
GLI3 0 0 2 0 0 2
GRIN2A 0 0 2 0 0 2
IQSEC2 1 0 1 0 0 2
KCNH2 2 0 0 0 0 2
KCNJ11 1 1 0 0 0 2
KLHL41 0 0 2 0 0 2
LARS2 1 1 0 0 0 2
LIG4 0 2 0 0 0 2
LOC102724058, SCN1A 2 0 0 0 0 2
LZTR1 1 1 0 0 0 2
MANBA 1 1 0 0 0 2
MYPN 0 1 1 0 0 2
NEXMIF 2 0 0 0 0 2
NIPBL 2 0 0 0 0 2
OPA1 1 1 0 0 0 2
OTUD6B 1 1 0 0 0 2
PCDH15 0 0 2 0 0 2
PEX6 1 1 0 0 0 2
PKHD1 2 0 0 0 0 2
RPGRIP1 2 0 0 0 0 2
SCN2A 1 1 0 0 0 2
SERPINI1 2 0 0 0 0 2
SMC1A 0 2 0 0 0 2
SMC3 0 2 0 0 0 2
SPG7 2 0 0 0 0 2
STXBP1 1 1 0 0 0 2
SYNGAP1 1 1 0 0 0 2
TBC1D24 0 0 2 0 0 2
TJP2 1 1 0 0 0 2
TTC21B 2 0 0 0 0 2
VCP 1 0 1 0 0 2
VPS13B 2 0 0 0 0 2
WASHC5 1 1 0 0 0 2
WDR45 2 0 0 0 0 2
WNT1 0 0 2 0 0 2
ABCA4 1 0 0 0 0 1
ABCC9 0 0 1 0 0 1
ADNP 1 0 0 0 0 1
AFG2A 0 0 1 0 0 1
AGRN 0 0 1 0 0 1
AK8, SPACA9, TSC1 1 0 0 0 0 1
ALDH1A3 0 1 0 0 0 1
ALPL 1 0 0 0 0 1
ANK2 0 0 1 0 0 1
ANKRD26 0 1 0 0 0 1
AP1S2 1 0 0 0 0 1
APOE 0 1 0 0 0 1
ARFGEF1-DT, CPA6 0 0 1 0 0 1
ARID1B 1 0 0 0 0 1
ASXL1 0 0 1 0 0 1
ASXL3 1 0 0 0 0 1
ATM 0 1 0 0 0 1
ATRX 1 0 0 0 0 1
BAP1 1 0 0 0 0 1
BRF1 0 0 1 0 0 1
CACNA1A, LOC126862866 0 1 0 0 0 1
CAMTA1 0 0 1 0 0 1
CAPN3 0 1 0 0 0 1
CASD1, SGCE 1 0 0 0 0 1
CASK 1 0 0 0 0 1
CATSPER2, CKMT1B, PPIP5K1, STRC 1 0 0 0 0 1
CCNF, TBC1D24 0 0 1 0 0 1
CCNH, RASA1 1 0 0 0 0 1
CDK13 1 0 0 0 0 1
CDKN2A 1 0 0 0 0 1
CEP135 1 0 0 0 0 1
CFHR5 1 0 0 0 0 1
CFTR 0 0 1 0 0 1
CFTR, LOC111674472 0 0 1 0 0 1
CHD8 1 0 0 0 0 1
CHEK2 0 1 0 0 0 1
CHRNB2 0 0 1 0 0 1
CHRNG 0 1 0 0 0 1
CLCN5 0 0 1 0 0 1
COCH, LOC100506071 1 0 0 0 0 1
COL11A1, RNPC3 0 1 0 0 0 1
COL1A1 1 0 0 0 0 1
COL2A1 1 0 0 0 0 1
COL4A1 0 1 0 0 0 1
COL4A4 1 0 0 0 0 1
COL5A1 1 0 0 0 0 1
COL6A3 0 0 1 0 0 1
COL9A3 0 0 1 0 0 1
CREBBP 1 0 0 0 0 1
CREBBP, LOC125146381, LOC125146382, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358 1 0 0 0 0 1
CTNNB1, LOC126806658 1 0 0 0 0 1
CTSD 0 1 0 0 0 1
CYBB 1 0 0 0 0 1
CYP2U1 1 0 0 0 0 1
CYP2U1, LOC129992929 0 1 0 0 0 1
DEPDC5 1 0 0 0 0 1
DES 0 1 0 0 0 1
DNAAF3 1 0 0 0 0 1
DNAH5 1 0 0 0 0 1
DSG2 0 0 1 0 0 1
DSP 0 1 0 0 0 1
DSPP 0 1 0 0 0 1
EHMT1 1 0 0 0 0 1
ELN 0 0 0 1 0 1
EP300, LOC126863158 1 0 0 0 0 1
ERGIC1 1 0 0 0 0 1
EXT1 1 0 0 0 0 1
EYA1 0 0 1 0 0 1
FAN1 1 0 0 0 0 1
FAN1, MTMR10 1 0 0 0 0 1
FGA 0 0 1 0 0 1
FLNB 0 0 1 0 0 1
FOXP1 1 0 0 0 0 1
G6PD 0 1 0 0 0 1
GABRA1 0 1 0 0 0 1
GAMT 1 0 0 0 0 1
GAMT, LOC130062945 1 0 0 0 0 1
GFI1B 1 0 0 0 0 1
GJB1 1 0 0 0 0 1
GLDN 1 0 0 0 0 1
GLUD1 1 0 0 0 0 1
GP1BA 1 0 0 0 0 1
GRIN1 1 0 0 0 0 1
GRIN2B 0 1 0 0 0 1
GRN 1 0 0 0 0 1
GRN, LOC125177489 1 0 0 0 0 1
HTRA1 0 0 1 0 0 1
IGSF6, METTL9, NPIPB4, OTOA, UQCRC2 1 0 0 0 0 1
ILDR1 1 0 0 0 0 1
JAG1 1 0 0 0 0 1
JUP 0 0 1 0 0 1
KARS1 1 0 0 0 0 1
KAT6B 1 0 0 0 0 1
KDM5C 1 0 0 0 0 1
KDM6A 0 1 0 0 0 1
KIRREL3 0 1 0 0 0 1
KMT2A 0 0 1 0 0 1
L1CAM 1 0 0 0 0 1
LAMB3 1 0 0 0 0 1
LARGE1 1 0 0 0 0 1
LDB3 0 0 1 0 0 1
LMNA 1 0 0 0 0 1
LOC106029312, NCF1 1 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 0 1 1
LOC122152296, LOC126806009, LOC132088648, USH2A 1 0 0 0 0 1
LOC126861356, SCN4B 0 0 1 0 0 1
LOC126861898, MYH7 0 1 0 0 0 1
LOC127814297, POU4F3 1 0 0 0 0 1
LOC129934333, TMEM127 1 0 0 0 0 1
LOC130057352, SMAD3 0 1 0 0 0 1
LOXHD1 1 0 0 0 0 1
LRSAM1 0 1 0 0 0 1
MARVELD2 1 0 0 0 0 1
MECP2 1 0 0 0 0 1
MED13L 1 0 0 0 0 1
MEN1 0 0 1 0 0 1
MFN2 0 1 0 0 0 1
MYH6 0 0 1 0 0 1
MYH7 1 0 0 0 0 1
MYL2 0 0 1 0 0 1
MYL3 0 0 1 0 0 1
MYO15A 1 0 0 0 0 1
MYO6 0 0 1 0 0 1
MYO7A 1 0 0 0 0 1
MYO9A 0 0 1 0 0 1
NF2 1 0 0 0 0 1
NKX2-1, SFTA3 1 0 0 0 0 1
NLRP3 1 0 0 0 0 1
NR3C2 0 1 0 0 0 1
OSBPL2 0 0 1 0 0 1
PAFAH1B1 1 0 0 0 0 1
PAPSS2 1 0 0 0 0 1
PAX6 1 0 0 0 0 1
PCNT 1 0 0 0 0 1
PDHA1 1 0 0 0 0 1
PGK1 0 0 1 0 0 1
PHEX 0 0 1 0 0 1
PHEX, PTCHD1 0 1 0 0 0 1
PIBF1 0 0 1 0 0 1
PIGA 0 1 0 0 0 1
PIK3CD 1 0 0 0 0 1
PKD2 1 0 0 0 0 1
PLP1, RAB9B 1 0 0 0 0 1
POLH, POLR1C 0 1 0 0 0 1
PTCH1 0 0 1 0 0 1
RALA 0 1 0 0 0 1
RET 0 1 0 0 0 1
RYR2 1 0 0 0 0 1
SACS 0 1 0 0 0 1
SCN1A 1 0 0 0 0 1
SCN1A, SCN9A 1 0 0 0 0 1
SCN8A 0 1 0 0 0 1
SEMA3D 0 0 1 0 0 1
SETBP1 1 0 0 0 0 1
SHANK2 0 0 1 0 0 1
SHANK3 1 0 0 0 0 1
SIX1 1 0 0 0 0 1
SKI 0 1 0 0 0 1
SLC17A8 0 1 0 0 0 1
SLC6A8 0 1 0 0 0 1
SLC7A9 1 0 0 0 0 1
SMARCB1 1 0 0 0 0 1
SOD1 1 0 0 0 0 1
SOS1 1 0 0 0 0 1
SPTBN2 0 1 0 0 0 1
STAT3 0 1 0 0 0 1
TMPRSS6 1 0 0 0 0 1
TNFRSF13B 0 0 0 0 1 1
TNFRSF1A 0 0 1 0 0 1
TPM1 0 1 0 0 0 1
TPM2 1 0 0 0 0 1
TPM3 0 1 0 0 0 1
TRIOBP 1 0 0 0 0 1
TTC19 0 1 0 0 0 1
UMOD 0 1 0 0 0 1
USH1G 0 1 0 0 0 1
ZBTB18 1 0 0 0 0 1
ZBTB20 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 272
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Condition pathogenic likely pathogenic uncertain significance likely benign risk factor total
Hypertrophic cardiomyopathy 4 15 1 0 0 0 16
Neurofibromatosis, type 1 8 1 1 0 0 10
Autosomal recessive nonsyndromic hearing loss 16 4 2 0 0 0 6
Noonan syndrome 1 5 1 0 0 0 6
Ataxia-telangiectasia syndrome 2 3 0 0 0 5
Hypertrophic cardiomyopathy 2 1 2 0 0 5
Marfan syndrome 3 2 0 0 0 5
X-linked Alport syndrome 3 2 0 0 0 5
Autosomal recessive nonsyndromic hearing loss 8 4 0 0 0 0 4
Dilated cardiomyopathy 1G 4 0 0 0 0 4
Kabuki syndrome 1 4 0 0 0 0 4
Primary dilated cardiomyopathy 0 1 3 0 0 4
Tuberous sclerosis 2 4 0 0 0 0 4
Aganglionic megacolon 0 1 1 0 1 3
Arthrogryposis multiplex congenita 2 1 0 0 0 3
Autosomal dominant nonsyndromic hearing loss 20 1 2 0 0 0 3
Autosomal recessive nonsyndromic hearing loss 1A 2 1 0 0 0 3
CHARGE association 2 1 0 0 0 3
De Lange syndrome 1 2 0 0 0 3
Developmental and epileptic encephalopathy, 7 3 0 0 0 0 3
Familial hypokalemia-hypomagnesemia 3 0 0 0 0 3
Hereditary spastic paraplegia 4 1 2 0 0 0 3
Intellectual disability 0 0 3 0 0 3
Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 2 1 0 0 0 3
Migraine, familial hemiplegic, 1 2 1 0 0 0 3
Pitt-Hopkins syndrome 2 1 0 0 0 3
Telangiectasia, hereditary hemorrhagic, type 2 2 1 0 0 0 3
Tyrosinase-negative oculocutaneous albinism 3 0 0 0 0 3
Adult polyglucosan body disease 2 0 0 0 0 2
Asphyxiating thoracic dystrophy 3 1 1 0 0 0 2
Autistic behavior 0 0 2 0 0 2
Autosomal recessive Alport syndrome 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 12 0 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 23 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 53 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 86 0 0 2 0 0 2
Autosomal recessive polycystic kidney disease 2 0 0 0 0 2
Beta-D-mannosidosis 1 1 0 0 0 2
Cholestasis, progressive familial intrahepatic, 4 1 1 0 0 0 2
Cohen syndrome 2 0 0 0 0 2
Congenital muscular hypertrophy-cerebral syndrome 0 2 0 0 0 2
DNA ligase IV deficiency 0 2 0 0 0 2
DYRK1A-related intellectual disability syndrome 2 0 0 0 0 2
Deficiency of guanidinoacetate methyltransferase 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 2 2 0 0 0 0 2
Developmental and epileptic encephalopathy, 4 1 1 0 0 0 2
Dilated cardiomyopathy 1D 0 0 2 0 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 1 0 0 2
Familial cancer of breast 0 1 1 0 0 2
Familial encephalopathy with neuroserpin inclusion bodies 2 0 0 0 0 2
Familial isolated dilated cardiomyopathy 1 0 1 0 0 2
Fraser syndrome 1 0 2 0 0 0 2
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2 0 0 0 0 2
Hereditary pancreatitis 0 0 2 0 0 2
Hereditary spastic paraplegia 56 1 1 0 0 0 2
Hereditary spastic paraplegia 7 2 0 0 0 0 2
Hereditary spastic paraplegia 8 1 1 0 0 0 2
Hyperinsulinemic hypoglycemia, familial, 2 1 1 0 0 0 2
Hypoparathyroidism, deafness, renal disease syndrome 2 0 0 0 0 2
Imerslund-Grasbeck syndrome 1 1 0 0 0 2
Infantile nephronophthisis 2 0 0 0 0 2
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 1 1 0 0 0 2
Intellectual disability, autosomal dominant 5 1 1 0 0 0 2
KBG syndrome 2 0 0 0 0 2
Karyomegalic interstitial nephritis 2 0 0 0 0 2
Leber congenital amaurosis 2 0 0 0 0 2
Long QT syndrome 2 2 0 0 0 0 2
Microcephaly 5, primary, autosomal recessive 1 1 0 0 0 2
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 1 1 0 0 0 2
Nemaline myopathy 9 0 0 2 0 0 2
Neurodegeneration with brain iron accumulation 5 2 0 0 0 0 2
Noonan syndrome 2 1 1 0 0 0 2
Osteogenesis imperfecta 0 0 2 0 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 1 1 0 0 0 2
Perrault syndrome 1 1 0 0 0 2
Primary ciliary dyskinesia 2 0 0 0 0 2
Progressive familial intrahepatic cholestasis type 1 1 1 0 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 0 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 0 2
Telangiectasia, hereditary hemorrhagic, type 1 1 1 0 0 0 2
Usher syndrome type 2 2 0 0 0 0 2
Usher syndrome type 2A 2 0 0 0 0 2
Usher syndrome type 2A; Retinitis pigmentosa 39 0 0 2 0 0 2
X-linked intellectual disability Cabezas type 1 1 0 0 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 0 0 1
AFib amyloidosis 0 0 1 0 0 1
Abnormal circulating lipid concentration 0 1 0 0 0 1
Adult hypophosphatasia 1 0 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 0 0 0 1
Amyotrophic lateral sclerosis 1 0 0 0 0 1
Amyotrophic lateral sclerosis; Cerebellar ataxia; Chorea 0 0 1 0 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 0 0 0 1
Aneurysm-osteoarthritis syndrome 0 1 0 0 0 1
Aniridia 1 1 0 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy 0 0 1 0 0 1
Arteriohepatic dysplasia 1 0 0 0 0 1
Atypical behavior; Bilateral ptosis; Neurodevelopmental delay 0 0 1 0 0 1
Autistic behavior; Abnormal facial shape; Clinodactyly of the 5th finger; Moderate global developmental delay; Clinodactyly of the 4th toe 0 1 0 0 0 1
Autosomal dominant Alport syndrome 0 1 0 0 0 1
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 0 1 0 0 0 1
Autosomal dominant nocturnal frontal lobe epilepsy 4 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 15 1 0 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 25 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 65 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 67 0 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 9 1 0 0 0 0 1
Autosomal dominant optic atrophy classic form 1 0 0 0 0 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 0 0 1
Autosomal recessive multiple pterygium syndrome 0 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types 0 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 2 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 22 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 3 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 42 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 1 0 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 77 1 0 0 0 0 1
BAP1-related tumor predisposition syndrome 1 0 0 0 0 1
Benign familial hematuria 1 0 0 0 0 1
Benign hereditary chorea 1 0 0 0 0 1
Bernard Soulier syndrome 1 0 0 0 0 1
Bilateral sensorineural hearing impairment 0 0 1 0 0 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 0 0 1
Branchiootic syndrome 1 1 0 0 0 0 1
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23 1 0 0 0 0 1
CARASIL syndrome 0 0 1 0 0 1
CFHR5 deficiency 1 0 0 0 0 1
Capillary malformation-arteriovenous malformation 1 1 0 0 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 1 0 0 0 0 1
Cardiac arrhythmia, ankyrin-B-related 0 0 1 0 0 1
Cardiomyopathy 0 0 1 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 1 0 0 0 0 1
Central core myopathy 0 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 1 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 1 0 0 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 0 0 1
Childhood onset GLUT1 deficiency syndrome 2 1 0 0 0 0 1
Congenital contracture 0 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 0 1
Congenital myasthenic syndrome 8 0 0 1 0 0 1
Congenital myopathy 23 1 0 0 0 0 1
Congenital myopathy with fiber type disproportion 0 1 0 0 0 1
Continuous spike and waves during slow sleep 1 0 0 0 0 1
Cornelia de Lange syndrome 1 1 0 0 0 0 1
Creatine transporter deficiency 0 1 0 0 0 1
Cronkhite-Canada syndrome 0 0 1 0 0 1
Cystinuria 1 0 0 0 0 1
Deafness-infertility syndrome 1 0 0 0 0 1
Dentinogenesis imperfecta type 2 0 1 0 0 0 1
Desmin-related myofibrillar myopathy 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 19 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 27 0 1 0 0 0 1
Dilated cardiomyopathy 1A 1 0 0 0 0 1
Dilated cardiomyopathy 1C 0 0 1 0 0 1
Dilated cardiomyopathy 1KK 0 1 0 0 0 1
Disproportionate tall stature 0 1 0 0 0 1
Early infantile epileptic encephalopathy with suppression bursts 1 0 0 0 0 1
Effort-induced polymorphic ventricular tachycardia 0 1 0 0 0 1
Ehlers-Danlos syndrome, classic type 1 0 0 0 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 0 1
Epilepsy 0 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 1 0 0 0 0 1
Episodic ataxia type 2 0 1 0 0 0 1
Exostoses, multiple, type 1 1 0 0 0 0 1
Familial amyloid nephropathy with urticaria AND deafness 1 0 0 0 0 1
Familial isolated hyperparathyroidism 0 0 1 0 0 1
Familial juvenile hyperuricemic nephropathy type 1 0 1 0 0 0 1
Familial temporal lobe epilepsy 5 0 0 1 0 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 0 0 1 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 0 0 1 0 0 1
GLUT1 deficiency syndrome 1 0 0 0 0 1
Global developmental delay; Infantile muscular hypotonia 0 0 1 0 0 1
Global developmental delay; Macrocephaly; Functional motor deficit; Generalized dystonia 0 0 1 0 0 1
Gorlin syndrome 0 0 1 0 0 1
Granulomatous disease, chronic, X-linked 1 0 0 0 0 1
Hartsfield-Bixler-Demyer syndrome 1 0 0 0 0 1
Hearing loss, autosomal recessive 1 0 0 0 0 1
Hematuria; Glomerulopathy 0 0 1 0 0 1
Hereditary episodic ataxia; Seizure; Vertigo 1 0 0 0 0 1
Hereditary motor and sensory neuropathy with optic atrophy 0 1 0 0 0 1
Hiatt-Neu-Cooper neurodevelopmental syndrome 0 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 1 0 0 0 1
Hyperinsulinism-hyperammonemia syndrome 1 0 0 0 0 1
Hypertrophic cardiomyopathy 1 1 0 0 0 0 1
Hypertrophic cardiomyopathy 15 0 0 1 0 0 1
Hypertrophic cardiomyopathy 8 0 0 1 0 0 1
Hypogonadotropic hypogonadism 2 with or without anosmia 1 0 0 0 0 1
Hypophosphatemic rickets, X-linked recessive 0 0 1 0 0 1
Immunodeficiency 14 1 0 0 0 0 1
Immunodeficiency, common variable, 2 0 0 0 0 1 1
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 1 0 0 0 0 1
Intellectual developmental disorder with autism and macrocephaly 1 0 0 0 0 1
Intellectual disability syndrome due to a DYRK1A point mutation 0 0 1 0 0 1
Intellectual disability, X-linked 1 1 0 0 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 0 0 1
Intellectual disability, autosomal dominant 29 1 0 0 0 0 1
Intellectual disability, autosomal dominant 4 0 1 0 0 0 1
Intellectual disability, autosomal dominant 8 1 0 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
Isolated anophthalmia-microphthalmia syndrome 0 1 0 0 0 1
Joubert syndrome 33 0 0 1 0 0 1
Junctional epidermolysis bullosa, non-Herlitz type 1 0 0 0 0 1
Kabuki syndrome 2 0 1 0 0 0 1
Kleefstra syndrome 1 1 0 0 0 0 1
LEOPARD syndrome 1 1 0 0 0 0 1
Landau-Kleffner syndrome 0 0 1 0 0 1
Lethal congenital contracture syndrome 11 1 0 0 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 0 0 1
Melanoma-pancreatic cancer syndrome 1 0 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 0 1
Microcephaly 8, primary, autosomal recessive 1 0 0 0 0 1
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 0 0 1 0 0 1
Microcytic anemia 1 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 2 0 1 0 0 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 1 0 0 0 0 1
Myoclonic dystonia 11 1 0 0 0 0 1
Neurofibromatosis, type 2 1 0 0 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 0 1
Neuronal ceroid lipofuscinosis 10 0 1 0 0 0 1
Nicolaides-Baraitser syndrome 1 0 0 0 0 1
Nonsyndromic genetic hearing loss 1 0 0 0 0 1
Noonan syndrome 1 0 0 0 0 1
Noonan syndrome 4 1 0 0 0 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 0 1 0 0 0 1
Osteogenesis imperfecta type I 1 0 0 0 0 1
Palmoplantar keratoderma-deafness syndrome 1 0 0 0 0 1
Paroxysmal extreme pain disorder 1 0 0 0 0 1
Pelizaeus-Merzbacher disease 1 0 0 0 0 1
Pettigrew syndrome 1 0 0 0 0 1
Pheochromocytoma 1 0 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 0 1
Presynaptic congenital myasthenic syndrome 0 0 1 0 0 1
Primary ciliary dyskinesia 2 1 0 0 0 0 1
Profound global developmental delay; Epileptic encephalopathy 0 0 1 0 0 1
Prolonged QT interval 0 0 1 0 0 1
Psychotic disorder; Mutism; Moderate global developmental delay 1 0 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 1 0 0 0 0 1
Renal hypoplasia 0 0 1 0 0 1
Rett syndrome 1 0 0 0 0 1
Rhabdoid tumor predisposition syndrome 1 1 0 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 1 0 0 0 0 1
Seizure 1 0 0 0 0 1
Seizure; Deeply set eye; Microcephaly 0 0 1 0 0 1
Seizure; Hypertonia; Delayed speech and language development; Moderate global developmental delay 0 0 1 0 0 1
Seizure; Intellectual disability 0 0 1 0 0 1
Seizure; Intellectual disability, mild 1 0 0 0 0 1
Seizures, benign familial infantile, 3 0 1 0 0 0 1
Seizures, benign familial neonatal, 1 0 1 0 0 0 1
Severe early-childhood-onset retinal dystrophy 1 0 0 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 0 1
Severe postnatal growth retardation; Synostosis involving bones of the lower limbs 0 0 1 0 0 1
Specific learning disability 0 0 1 0 0 1
Spinocerebellar ataxia type 5 0 1 0 0 0 1
Spondyloepimetaphyseal dysplasia, PAPSS2 type 1 0 0 0 0 1
Spondyloepiphyseal dysplasia congenita 1 0 0 0 0 1
Storage pool disease of platelets 1 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 0 1 0 0 1
Thrombocytopenia 2 0 1 0 0 0 1
Tuberous sclerosis 1 1 0 0 0 0 1
Usher syndrome type 1G 0 1 0 0 0 1
Wolfram-like syndrome 1 0 0 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 1
Xeroderma pigmentosum variant type 0 1 0 0 0 1

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