ClinVar Miner

Variants from Medical and Scientific Branch, Hong Kong Genome Institute

Location: Hong Kong  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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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
249 221 1 0 0 471

Gene and significance breakdown #

Total genes and gene combinations: 272
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PKD1 29 10 0 39
NF1 15 8 0 23
PKD2 8 5 0 13
USH2A 7 5 0 12
LDLR 8 3 0 11
COL4A3, MFF-DT 3 4 0 7
EYS 5 1 0 6
COL4A5 1 3 0 4
CYP21A2, LOC106780800 3 1 0 4
CYP4V2 4 0 0 4
GJB2 4 0 0 4
PTEN 2 2 0 4
PTPN11 4 0 0 4
TSC2 2 2 0 4
WFS1 2 2 0 4
ALG9 0 3 0 3
BRCA2 1 2 0 3
CEP290 2 1 0 3
COL2A1 1 2 0 3
GJB1 1 2 0 3
GNE 1 2 0 3
IFT140 2 1 0 3
KCNB1 0 3 0 3
KMT2D 2 1 0 3
MEN1 2 1 0 3
NOTCH3 1 2 0 3
ABCA4 1 1 0 2
ABCG5, DYNC2LI1 1 1 0 2
ACVRL1 0 2 0 2
ALS2 1 1 0 2
ARID1B 2 0 0 2
BRCA1 1 1 0 2
CAPN3 2 0 0 2
CDKL5 1 1 0 2
CDKL5, RS1 0 2 0 2
CHD7 2 0 0 2
CNGA1, LOC101927157 1 1 0 2
CNGA3 0 2 0 2
COL4A4 0 2 0 2
COL7A1 0 2 0 2
COQ8A 2 0 0 2
DNAH11 1 1 0 2
ECEL1 0 2 0 2
FH 2 0 0 2
GLA, RPL36A-HNRNPH2 0 2 0 2
GLRA1 0 2 0 2
HK1 0 2 0 2
HNRNPU 2 0 0 2
KCNQ2 1 1 0 2
LOC102724058, SCN1A 1 1 0 2
LOC122152296, USH2A 1 1 0 2
MECP2 2 0 0 2
MVP-DT, PRRT2 2 0 0 2
NPHP3-ACAD11, UBA5 0 2 0 2
NPHS1 1 0 1 2
OTOG 1 1 0 2
PAX2 1 1 0 2
PDE6A 0 2 0 2
PNPLA6 0 2 0 2
RAD51C 2 0 0 2
RARS2 0 2 0 2
RCBTB1 2 0 0 2
SH3TC2 0 2 0 2
SHQ1 1 1 0 2
SLC22A12 1 1 0 2
SLC22A5 2 0 0 2
SRD5A2 0 2 0 2
SYNGAP1 1 1 0 2
TARDBP 0 2 0 2
TMPRSS3 1 1 0 2
TNRC6B 0 2 0 2
TP53 2 0 0 2
TTN 1 1 0 2
WRN 1 1 0 2
ZNF462 2 0 0 2
ABCA4, LOC126805793 1 0 0 1
ABCD1, PLXNB3 0 1 0 1
ACTA1 0 1 0 1
ACTG1 0 1 0 1
ALAS2 1 0 0 1
ALOX12B 0 1 0 1
ALX4 0 1 0 1
ANKRD11 1 0 0 1
APOB 0 1 0 1
AR 0 1 0 1
ATM 1 0 0 1
ATM, C11orf65 0 1 0 1
ATP1A1 0 1 0 1
AUTS2 1 0 0 1
AVPR2 0 1 0 1
BEST1, FTH1 1 0 0 1
BRD4 0 1 0 1
CACNA1A 1 0 0 1
CASR 0 1 0 1
CCM2 1 0 0 1
CCNO, LOC129993895 1 0 0 1
CDH2 0 1 0 1
CDK13 1 0 0 1
CHD2 0 1 0 1
CHKB, CHKB-CPT1B 0 1 0 1
CHM 1 0 0 1
CIZ1, DNM1 0 1 0 1
CLCN4 0 1 0 1
CNOT1 0 1 0 1
COL1A1 0 1 0 1
COL6A3 1 0 0 1
COLQ 0 1 0 1
COX20 1 0 0 1
COX20, LOC129932912 1 0 0 1
CP 1 0 0 1
CRYBA1 0 1 0 1
CSF1R 1 0 0 1
CTNNB1 1 0 0 1
CUL4B 1 0 0 1
CUX2 1 0 0 1
CYBB 0 1 0 1
CYP21A2, LOC106780800, TNXB 1 0 0 1
DCX 1 0 0 1
DDX3X 0 1 0 1
DEPDC5 0 1 0 1
DLG4 0 1 0 1
DMD 1 0 0 1
DNAH5 1 0 0 1
DSP 0 1 0 1
DYSF 1 0 0 1
EBF3 1 0 0 1
EFTUD2 1 0 0 1
ENG 0 1 0 1
EPHB4 0 1 0 1
EXT1 1 0 0 1
FBN1 0 1 0 1
FBN1, LOC113939944 0 1 0 1
FBXO11, MSH6 0 1 0 1
FERMT1 1 0 0 1
FLNC 0 1 0 1
FOXP1 1 0 0 1
G6PD 1 0 0 1
G6PD, IKBKG 1 0 0 1
GABRG2 0 1 0 1
GATA6 0 1 0 1
GBF1, PITX3 1 0 0 1
GLI2 0 1 0 1
GLRA2 0 1 0 1
GNA11 0 1 0 1
GNAS 0 1 0 1
GNB1 1 0 0 1
GPR143 0 1 0 1
GREB1L 1 0 0 1
HBA-LCR, NPRL3 0 1 0 1
HDAC8 0 1 0 1
HLCS 0 1 0 1
HNF1A 1 0 0 1
HNRNPK 1 0 0 1
HPS3 1 0 0 1
HRAS, LRRC56 0 1 0 1
HSD17B3, SLC35D2-HSD17B3 0 1 0 1
IFT140, LOC105371046 1 0 0 1
IGSF1 0 1 0 1
ITPR1, LOC126806590 1 0 0 1
JAG2 0 1 0 1
JARID2 1 0 0 1
KAT6B 1 0 0 1
KCNA1 0 1 0 1
KCNA2 0 1 0 1
KCNQ1 0 1 0 1
KCNT1 0 1 0 1
KCNT2 0 1 0 1
KDM5C 1 0 0 1
KIF11 0 1 0 1
KMT2A 1 0 0 1
KMT2A, TTC36 1 0 0 1
KMT5B 0 1 0 1
KRT14 1 0 0 1
LAMA1 0 1 0 1
LMBRD2 0 1 0 1
LMX1B 0 1 0 1
LOC107303340, VHL 1 0 0 1
LOC125467768, PCDH19 1 0 0 1
LOC129996745, PHIP 1 0 0 1
LZTR1 1 0 0 1
MAGT1 0 1 0 1
MBOAT7 1 0 0 1
MEIS2 1 0 0 1
MKKS 1 0 0 1
MLH3 0 1 0 1
MPZ 0 1 0 1
MSH2 1 0 0 1
MSH6 1 0 0 1
MSL3 1 0 0 1
MT-ATP6 1 0 0 1
MTOR 1 0 0 1
MTSS2 0 1 0 1
MYBPC3 0 1 0 1
MYO15A 1 0 0 1
MYOC 0 1 0 1
NAA15 1 0 0 1
NDUFAF5 0 1 0 1
NEUROD2 0 1 0 1
NFIX 1 0 0 1
NIPAL4 1 0 0 1
NIPBL 0 1 0 1
NOTCH1 0 1 0 1
NPR2 1 0 0 1
NPRL2 0 1 0 1
NR4A2 1 0 0 1
NSD1 0 1 0 1
NUS1 1 0 0 1
OPA1 1 0 0 1
OPHN1 1 0 0 1
OSGEP 0 1 0 1
PALB2 1 0 0 1
PDE6B 1 0 0 1
PIK3R2 1 0 0 1
PKP2 1 0 0 1
PMS2 0 1 0 1
POLG 0 1 0 1
PPM1D 0 1 0 1
PRKAR1A 1 0 0 1
PRKCG 0 1 0 1
PRKN 1 0 0 1
PROS1 0 1 0 1
PSEN1 0 1 0 1
PURA 1 0 0 1
RAC1 0 1 0 1
RAD51D, RAD51L3-RFFL 1 0 0 1
RALA 0 1 0 1
RARB 0 1 0 1
RB1 1 0 0 1
RHO 1 0 0 1
RNF216 0 1 0 1
RP1L1 1 0 0 1
RPGR 0 1 0 1
SACS 0 1 0 1
SALL1 1 0 0 1
SCN1A 0 1 0 1
SCN1A, SCN9A 0 1 0 1
SCN8A 0 1 0 1
SDHAF2 1 0 0 1
SET 1 0 0 1
SETD5 0 1 0 1
SETX 1 0 0 1
SGCD 1 0 0 1
SHANK3 1 0 0 1
SIN3A 0 1 0 1
SLC16A2 0 1 0 1
SLC25A13 1 0 0 1
SLC2A1 0 1 0 1
SLC40A1 0 1 0 1
SLC6A8 1 0 0 1
SMARCA4 0 1 0 1
SOD1 1 0 0 1
SOS1 1 0 0 1
SPAST 0 1 0 1
SPRED1 0 1 0 1
SPTBN1 0 1 0 1
STAT1 0 1 0 1
TBL1XR1 1 0 0 1
TCAP 1 0 0 1
TCF12 0 1 0 1
TFE3 1 0 0 1
TG 1 0 0 1
THRB 0 1 0 1
TLK2 1 0 0 1
TNNC1 0 1 0 1
TOPORS 0 1 0 1
TP63 0 1 0 1
TTR 0 1 0 1
TUBB3 1 0 0 1
UBAP2L 0 1 0 1
USP7 0 1 0 1
ZBTB20 1 0 0 1
ZBTB7A 0 1 0 1

Condition and significance breakdown #

Total conditions: 266
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Polycystic kidney disease, adult type 29 10 0 39
Neurofibromatosis, type 1 16 8 0 24
Polycystic kidney disease 2 9 5 0 14
Hypercholesterolemia, familial, 1 9 3 0 12
Retinitis pigmentosa 39 3 5 0 8
Autosomal dominant Alport syndrome 3 4 0 7
Retinitis pigmentosa 25 5 1 0 6
Usher syndrome type 2A 5 1 0 6
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 4 1 0 5
Autosomal dominant polycystic kidney disease 3 1 0 4
Autosomal recessive nonsyndromic hearing loss 1A 4 0 0 4
Bietti crystalline corneoretinal dystrophy 4 0 0 4
Cowden syndrome 1 2 2 0 4
Noonan syndrome 1 4 0 0 4
Tuberous sclerosis 2 2 2 0 4
Wolfram syndrome 1 2 2 0 4
X-linked Alport syndrome 1 3 0 4
ALG9-associated autosomal dominant polycystic kidney disease 0 3 0 3
Autosomal recessive Alport syndrome 0 3 0 3
CEP290-related ciliopathy 2 1 0 3
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 1 2 0 3
Charcot-Marie-Tooth disease X-linked dominant 1 1 2 0 3
Developmental and epileptic encephalopathy, 26 0 3 0 3
GNE myopathy 1 2 0 3
Multiple endocrine neoplasia, type 1 2 1 0 3
Stickler syndrome type 1 1 2 0 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 0 2 0 2
Achromatopsia 2 0 2 0 2
Amyotrophic lateral sclerosis type 10 0 2 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2A 2 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 18B 1 1 0 2
Autosomal recessive nonsyndromic hearing loss 8 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 1 1 1 0 2
Breast-ovarian cancer, familial, susceptibility to, 3 2 0 0 2
CHD7-related CHARGE syndrome 2 0 0 2
Carney complex, type 1 2 0 0 2
Charcot-Marie-Tooth disease type 4C 0 2 0 2
Coffin-Siris syndrome 1 2 0 0 2
Dalmatian hypouricemia 1 1 0 2
Developmental and epileptic encephalopathy, 2 1 1 0 2
Developmental and epileptic encephalopathy, 44 0 2 0 2
Developmental and epileptic encephalopathy, 54 2 0 0 2
Distal arthrogryposis type 5D 0 2 0 2
Fabry disease 0 2 0 2
Familial cancer of breast 1 1 0 2
Finnish congenital nephrotic syndrome 1 0 1 2
Focal segmental glomerulosclerosis 7 1 1 0 2
Global developmental delay with speech and behavioral abnormalities 0 2 0 2
Hereditary leiomyomatosis and renal cell cancer 2 0 0 2
Hyperekplexia 1 0 2 0 2
Infantile-onset ascending hereditary spastic paralysis 1 1 0 2
Intellectual disability, autosomal dominant 5 1 1 0 2
Juvenile retinoschisis 0 2 0 2
Kabuki syndrome 1 2 0 0 2
Li-Fraumeni syndrome 1 2 0 0 2
Marfan syndrome 0 2 0 2
Mitochondrial complex IV deficiency, nuclear type 11 2 0 0 2
Neurodevelopmental disorder with dystonia and seizures 1 1 0 2
Neurodevelopmental disorder with visual defects and brain anomalies 0 2 0 2
Pontocerebellar hypoplasia type 6 0 2 0 2
Primary ciliary dyskinesia 7 1 1 0 2
RCBTB1-related retinopathy 2 0 0 2
Renal carnitine transport defect 2 0 0 2
Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome 0 2 0 2
Retinitis pigmentosa 43 0 2 0 2
Retinitis pigmentosa 49 1 1 0 2
Rett syndrome 2 0 0 2
SIN3A-related intellectual disability syndrome due to a point mutation 0 2 0 2
Severe early-childhood-onset retinal dystrophy 2 0 0 2
Severe myoclonic epilepsy in infancy 0 2 0 2
Sitosterolemia 2 1 1 0 2
Telangiectasia, hereditary hemorrhagic, type 2 0 2 0 2
Weiss-Kruszka syndrome 2 0 0 2
Werner syndrome 1 1 0 2
Wiedemann-Steiner syndrome 2 0 0 2
ABCA4-related retinopathy 0 1 0 1
Adrenoleukodystrophy 0 1 0 1
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome 0 1 0 1
Allan-Herndon-Dudley syndrome 0 1 0 1
Alpha-actinopathy 0 1 0 1
Alzheimer disease 3 0 1 0 1
Amyloidosis, hereditary systemic 1 0 1 0 1
Amyotrophic lateral sclerosis type 1 1 0 0 1
Androgen resistance syndrome 0 1 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 1
Aortic valve disease 1 0 1 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 0 1
Au-Kline syndrome 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 1 0 1
Autosomal dominant hypocalcemia 1 0 1 0 1
Autosomal dominant hypocalcemia 2 0 1 0 1
Autosomal dominant optic atrophy classic form 1 0 0 1
Autosomal recessive congenital ichthyosis 2 0 1 0 1
Autosomal recessive congenital ichthyosis 6 1 0 0 1
Autosomal recessive juvenile Parkinson disease 2 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2F 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2G 1 0 0 1
BEST1-related dominant retinopathy 1 0 0 1
Baraitser-winter syndrome 2 0 1 0 1
Bardet-Biedl syndrome 6 1 0 0 1
Basilicata-Akhtar syndrome 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 1
Capillary malformation-arteriovenous malformation 2 0 1 0 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 1
Cataract 10 multiple types 0 1 0 1
Cataract 11 multiple types 1 0 0 1
Cerebellar ataxia-hypogonadism syndrome 0 1 0 1
Cerebral cavernous malformation 2 1 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 1 0 1
Charlevoix-Saguenay spastic ataxia 0 1 0 1
Childhood onset GLUT1 deficiency syndrome 2 0 1 0 1
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 1 0 1
Choroideremia 1 0 0 1
Citrullinemia, type II, adult-onset 1 0 0 1
Collagen 6-related myopathy 1 0 0 1
Complex cortical dysplasia with other brain malformations 1 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 1
Congenital myasthenic syndrome 5 0 1 0 1
Cornelia de Lange syndrome 1 0 1 0 1
Cornelia de Lange syndrome 5 0 1 0 1
Cornelia de Lange syndrome 6 0 1 0 1
Costello syndrome 0 1 0 1
Creatine transporter deficiency 1 0 0 1
Deficiency of ferroxidase 1 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 1
Developmental and epileptic encephalopathy, 14 0 1 0 1
Developmental and epileptic encephalopathy, 31A 0 1 0 1
Developmental and epileptic encephalopathy, 32 0 1 0 1
Developmental and epileptic encephalopathy, 57 0 1 0 1
Developmental and epileptic encephalopathy, 67 1 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 1
Developmental and epileptic encephalopathy, 72 0 1 0 1
Developmental and epileptic encephalopathy, 74 0 1 0 1
Developmental and epileptic encephalopathy, 9 1 0 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 1 0 0 1
Developmental delay with variable neurologic and brain abnormalities 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 1
Diabetes insipidus, nephrogenic, X-linked 0 1 0 1
Duchenne muscular dystrophy 1 0 0 1
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 1 0 1
Endometrial carcinoma 0 1 0 1
Epidermolysis bullosa pruriginosa 0 1 0 1
Epidermolysis bullosa simplex, Koebner type 1 0 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 1
Epilepsy, familial focal, with variable foci 2 0 1 0 1
Epilepsy, familial focal, with variable foci 3 0 1 0 1
Episodic ataxia type 1 0 1 0 1
Episodic kinesigenic dyskinesia 1 1 0 0 1
Exostoses, multiple, type 1 1 0 0 1
Familial colorectal cancer 1 0 0 1
Familial prostate cancer 1 0 0 1
GPR143-related foveal hypoplasia 0 1 0 1
Galloway-Mowat syndrome 3 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 1 0 0 1
Genitopatellar syndrome 1 0 0 1
Gillespie syndrome 1 0 0 1
Glaucoma 1, open angle, A 0 1 0 1
Granulomatous disease, chronic, X-linked 0 1 0 1
Hao-Fountain syndrome due to USP7 mutation 0 1 0 1
Hemochromatosis type 4 0 1 0 1
Hereditary spastic paraplegia 4 0 1 0 1
Hermansky-Pudlak syndrome 3 1 0 0 1
Hiatt-Neu-Cooper neurodevelopmental syndrome 0 1 0 1
Holocarboxylase synthetase deficiency 0 1 0 1
Hypercholesterolemia, autosomal dominant, type B 0 1 0 1
Hypertrophic cardiomyopathy 13 0 1 0 1
Hypertrophic cardiomyopathy 4 0 1 0 1
Hypomagnesemia, seizures, and intellectual disability 2 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 1 0 0 1
Intellectual developmental disorder 62 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 1 0 1
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 1 0 0 1
Intellectual developmental disorder with ocular anomalies and distinctive facial features 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, Pilorge type 0 1 0 1
Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 1 0 0 1
Intellectual disability, X-linked 102 0 1 0 1
Intellectual disability, X-linked 49 0 1 0 1
Intellectual disability, autosomal dominant 42 1 0 0 1
Intellectual disability, autosomal dominant 48 0 1 0 1
Intellectual disability, autosomal dominant 50 1 0 0 1
Intellectual disability, autosomal dominant 51 0 1 0 1
Intellectual disability, autosomal dominant 55, with seizures 1 0 0 1
Intellectual disability, autosomal dominant 57 1 0 0 1
Intellectual disability, autosomal dominant 58 1 0 0 1
Intellectual disability, autosomal recessive 57 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 1
Iodotyrosyl coupling defect 1 0 0 1
KBG syndrome 1 0 0 1
Kindler syndrome 1 0 0 1
LZTR1-related schwannomatosis 1 0 0 1
Legius syndrome 0 1 0 1
Leigh syndrome 1 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 1
Long QT syndrome 1 0 1 0 1
Lynch syndrome 1 1 0 0 1
Lynch syndrome 4 0 1 0 1
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 0 1 0 1
Malan overgrowth syndrome 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 1
Mayer Rokitansky Kuster Hauser syndrome type 1 1 0 0 1
McCune-Albright syndrome 0 1 0 1
Megaconial type congenital muscular dystrophy 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 1 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 1
Microphthalmia, syndromic 12 0 1 0 1
Migraine, familial hemiplegic, 1 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 16 0 1 0 1
Muscular dystrophy, limb-girdle, autosomal recessive 27 0 1 0 1
Myofibrillar myopathy 5 0 1 0 1
Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies 0 1 0 1
Noonan syndrome 4 1 0 0 1
Occult macular dystrophy 1 0 0 1
Osteogenesis imperfecta type I 0 1 0 1
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 1 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 1 0 0 1
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 0 1 0 1
Phelan-McDermid syndrome 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 2 1 0 0 1
Pierpont syndrome 1 0 0 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 1
Primary ciliary dyskinesia 29 1 0 0 1
Primary ciliary dyskinesia 3 1 0 0 1
Primrose syndrome 1 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 0 1 0 1
RPGR-related retinopathy 0 1 0 1
Retinitis pigmentosa 31 0 1 0 1
Retinitis pigmentosa 4 1 0 0 1
Retinitis pigmentosa 40 1 0 0 1
Retinoblastoma 1 0 0 1
Rhabdoid tumor predisposition syndrome 2 0 1 0 1
Seizures, benign familial infantile, 2 1 0 0 1
Seizures, benign familial infantile, 5 0 1 0 1
Seizures, benign familial neonatal, 1 0 1 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 1 0 0 1
Short stature with nonspecific skeletal abnormalities 1 1 0 0 1
Sotos syndrome 0 1 0 1
Spinocerebellar ataxia type 14 0 1 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 1
TCF12-related craniosynostosis 0 1 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 1
Testosterone 17-beta-dehydrogenase deficiency 0 1 0 1
Thrombophilia due to protein S deficiency, autosomal dominant 0 1 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 1 0 1
Townes-Brocks syndrome 1 1 0 0 1
Transient bullous dermolysis of the newborn 0 1 0 1
Vissers-Bodmer syndrome 0 1 0 1
Von Hippel-Lindau syndrome 1 0 0 1
Wilms tumor 1 0 1 0 1
X-linked central congenital hypothyroidism with late-onset testicular enlargement 0 1 0 1
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 1 0 1
X-linked intellectual disability Cabezas type 1 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 1 0 0 1
X-linked sideroblastic anemia 1 1 0 0 1

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