ClinVar Miner

Variants from Genomic Medicine Lab, University of California San Francisco

Location: United States  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
187 92 97 0 0 376

Gene and significance breakdown #

Total genes and gene combinations: 267
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
PTPN11 5 2 1 8
KMT2D 7 0 0 7
KMT2A 6 0 0 6
TTN 0 2 3 5
ANKRD11 3 0 1 4
CHD7 3 1 0 4
DYNC2H1 2 1 1 4
HRAS, LRRC56 4 0 0 4
BRCA2 2 1 0 3
EP300 2 0 1 3
HSALR1, PIEZO1 1 2 0 3
KANSL1 1 1 1 3
MECP2 3 0 0 3
PDHA1 1 2 0 3
PIEZO1 1 1 1 3
POMT2 1 1 1 3
RIT1 3 0 0 3
SOS1 3 0 0 3
TUBA1A 3 0 0 3
ACAD9 1 1 0 2
ALPL 0 1 1 2
AMPD2 0 0 2 2
ARID1A 2 0 0 2
BCS1L 1 1 0 2
CACNA1A 0 2 0 2
CEP55 0 1 1 2
CHD3 1 1 0 2
COL2A1 1 1 0 2
CTCF 0 2 0 2
CYP1B1 0 1 1 2
DDX3X 1 0 1 2
DHCR24 2 0 0 2
FGFR2 0 1 1 2
FGFR3 2 0 0 2
FLNA 0 1 1 2
FOXC2 1 1 0 2
FREM2 2 0 0 2
GLI2 1 1 0 2
HFE 2 0 0 2
HNRNPH2, RPL36A-HNRNPH2 2 0 0 2
HSPG2 0 0 2 2
INTS1 0 2 0 2
IQSEC2 0 0 2 2
JAG1 2 0 0 2
KAT6A 2 0 0 2
KIF1A 2 0 0 2
KRAS 1 1 0 2
LAMA1 0 1 1 2
LRP1 0 0 2 2
LZTR1 1 0 1 2
MAGEL2 2 0 0 2
METTL23 0 1 1 2
NOTCH1 1 1 0 2
PUS7 0 2 0 2
RAD21 2 0 0 2
ROCK2 0 0 2 2
RPS6KA3 1 0 1 2
SATB2 1 1 0 2
SHOC2 1 1 0 2
SLC17A5 2 0 0 2
SLC6A1 0 2 0 2
SNAP25 0 0 2 2
SYNE1 2 0 0 2
TMEM237 2 0 0 2
TNNT2 2 0 0 2
TPM1 1 1 0 2
TPP1 1 0 1 2
TRAF7 0 2 0 2
USP9X 1 0 1 2
ZC4H2 0 2 0 2
ZEB2 1 0 1 2
ZNF335 0 0 2 2
ACO2, POLR3H 0 0 1 1
ACTA1 1 0 0 1
ACTB 0 0 1 1
ACTG1 1 0 0 1
ACTG2 1 0 0 1
ADNP 0 0 1 1
AGA 1 0 0 1
AHDC1 1 0 0 1
ALAS2, LOC108663984 0 1 0 1
ALG1 0 0 1 1
ALS2 1 0 0 1
ANKRD17 0 1 0 1
APOB 1 0 0 1
AQP2 1 0 0 1
AR 1 0 0 1
ARHGEF9 1 0 0 1
ARMC9 0 0 1 1
ARSL 0 0 1 1
ARX 1 0 0 1
ASH1L 0 1 0 1
ASS1 1 0 0 1
ATP1A2 0 1 0 1
BCL11A 1 0 0 1
BICD2 0 0 1 1
BIVM-ERCC5, ERCC5, LOC126861834 0 0 1 1
BMP2 1 0 0 1
BRAF 1 0 0 1
BRCA1 1 0 0 1
BRIP1 1 0 0 1
BRPF1 0 0 1 1
CBL 0 1 0 1
CC2D2A 0 0 1 1
CCDC8 0 0 1 1
CCNH, RASA1 1 0 0 1
CD96 0 0 1 1
CDH2 1 0 0 1
CDK10 1 0 0 1
CELSR1 0 1 0 1
CEP290 1 0 0 1
CHAMP1 1 0 0 1
CHEK2 1 0 0 1
CNOT3 1 0 0 1
COL1A1 1 0 0 1
COL1A2 0 0 1 1
COL4A5 0 1 0 1
COL6A1 1 0 0 1
COL6A2 0 1 0 1
CSNK2B 1 0 0 1
DCDC2C 0 0 1 1
DCLRE1C 1 0 0 1
DDB1 0 0 1 1
DGAT1, LOC130001386 1 0 0 1
DLL1 0 0 1 1
DMD 1 0 0 1
DNAH9 1 0 0 1
DNAH9, LOC126862505 1 0 0 1
DOK7 1 0 0 1
DYRK1A 1 0 0 1
ECEL1 1 0 0 1
EFL1 0 0 1 1
EFTUD2 1 0 0 1
EHMT1 1 0 0 1
EIF2S3 0 0 1 1
ELN 1 0 0 1
ELP1 0 0 1 1
EPHB4 0 1 0 1
EXT2 0 1 0 1
FGD1 0 0 1 1
FGF8 0 0 1 1
FLNC 0 0 1 1
FLT4 1 0 0 1
FOXF1 0 1 0 1
FOXP2 1 0 0 1
FOXP3 0 1 0 1
FXN, LOC130001862 0 1 0 1
GATAD1, PEX1 0 0 1 1
GDF5 0 0 1 1
GH-LCR, SCN4A 1 0 0 1
GLI3 0 0 1 1
GNAS 1 0 0 1
GORAB 0 0 1 1
GRIN2A 0 1 0 1
GRIN2D, LOC130064857 0 1 0 1
GTF2H5 0 0 1 1
GUCY2C 0 1 0 1
HAAO 0 0 1 1
HBA2, LOC106804612 1 0 0 1
HBG2, LOC106099065 0 1 0 1
HDAC8 0 1 0 1
HEPHL1 0 0 1 1
HUWE1 0 0 1 1
IDUA, SLC26A1 1 0 0 1
IFT74 0 1 0 1
KAT6B 1 0 0 1
KCNA2 1 0 0 1
KCNJ11 0 0 1 1
KCNK4, KCNK4-CATSPERZ 0 1 0 1
KDM3B 0 0 1 1
KRIT1 1 0 0 1
LAMA2 1 0 0 1
LOC108281177, SOX2, SOX2-OT 1 0 0 1
LOC110011216, PHOX2B 1 0 0 1
LOC112543452, MAST1 0 0 1 1
LOC121740638, TFAP2A 1 0 0 1
LOC126806422, TTN 0 1 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 0 1 1
LOC126863256, WDR45 1 0 0 1
LOC129931382, SF3B4 1 0 0 1
LOC130067016, LZTR1 0 1 0 1
LRP6 0 0 1 1
MAPT 0 1 0 1
MBD5 0 1 0 1
MC4R 1 0 0 1
MCPH1 0 1 0 1
MED13L 0 0 1 1
MEIS2 1 0 0 1
MMACHC 1 0 0 1
MN1 0 0 1 1
MRPS22 0 0 1 1
MSL3 1 0 0 1
MT-TL1 1 0 0 1
MVP-DT, PRRT2 1 0 0 1
MYH3 0 0 1 1
MYH6 0 0 1 1
MYRF 0 1 0 1
NALCN 1 0 0 1
NFIB 1 0 0 1
NODAL 0 0 1 1
NPC1 0 0 1 1
NR3C2 0 1 0 1
NRAS 1 0 0 1
NSD1 1 0 0 1
NSD2 0 0 1 1
OFD1 0 1 0 1
OTOG 0 1 0 1
PALB2 0 1 0 1
PARN 0 1 0 1
PBX1 0 1 0 1
PCDH12 0 0 1 1
PDCD10 1 0 0 1
PGAP2 0 0 1 1
PHF8 0 0 1 1
PIEZO2 0 1 0 1
PIK3CA 1 0 0 1
PKD1 0 0 1 1
PKHD1 1 0 0 1
PLEKHA5 0 0 1 1
PLPBP 0 0 1 1
PMM2 0 1 0 1
POC1A 1 0 0 1
POGZ 1 0 0 1
POLR1A 0 0 1 1
POLR2F, SOX10 0 1 0 1
POR 0 0 1 1
PPP2R5D 1 0 0 1
PRF1 1 0 0 1
PROKR2 0 1 0 1
PTEN 1 0 0 1
RET 0 0 1 1
RNF113A 0 0 1 1
SALL1 0 0 1 1
SCN1B 0 0 1 1
SCN2A 1 0 0 1
SETBP1 1 0 0 1
SETSIP 1 0 0 1
SFTPC 1 0 0 1
SIN3A 1 0 0 1
SKIC3 1 0 0 1
SLC16A2 0 1 0 1
SLC19A3 0 1 0 1
SLC26A2 1 0 0 1
SMAD4 1 0 0 1
SMAD6 0 1 0 1
SMC3 0 0 1 1
SPI1 0 1 0 1
SPTAN1 0 1 0 1
SRCAP 1 0 0 1
SRD5A2 1 0 0 1
SUZ12 0 1 0 1
SYNGAP1 0 1 0 1
TANGO2 1 0 0 1
TBC1D23 0 0 1 1
TBX5 1 0 0 1
TCF20 1 0 0 1
TELO2 0 0 1 1
TNFRSF13B 1 0 0 1
TRIO 0 1 0 1
TRPV4 1 0 0 1
TUBB2A 0 1 0 1
TUBB2B 0 0 1 1
WDFY3 0 0 1 1
ZBTB18 1 0 0 1
ZFPM2 1 0 0 1
ZIC3 0 1 0 1
ZP1 1 0 0 1

Condition and significance breakdown #

Total conditions: 256
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Non-immune hydrops fetalis 18 9 4 31
Global developmental delay 3 4 1 8
Kabuki syndrome 1 7 0 0 7
Noonan syndrome 1 4 2 1 7
Wiedemann-Steiner syndrome 6 0 0 6
Asphyxiating thoracic dystrophy 3 2 1 1 4
CHARGE syndrome 3 1 0 4
Dilated cardiomyopathy 1G 0 3 1 4
KBG syndrome 3 0 1 4
Koolen-de Vries syndrome 1 1 1 3
Lissencephaly due to TUBA1A mutation 3 0 0 3
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 0 2 1 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 1 1 1 3
Neurodevelopmental delay 1 2 0 3
Noonan syndrome 4 3 0 0 3
Pyruvate dehydrogenase E1-alpha deficiency 1 2 0 3
Rett syndrome 3 0 0 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2 0 1 3
Acyl-CoA dehydrogenase 9 deficiency 1 1 0 2
Aortic valve disease 1 1 1 0 2
Arthrogryposis multiplex congenita 3, myogenic type 2 0 0 2
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 1 1 2
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 2 0 0 2
CTCF-related neurodevelopmental disorder 0 2 0 2
Cardiac, facial, and digital anomalies with developmental delay 0 2 0 2
Chromosome 2q32-q33 deletion syndrome 1 1 0 2
Cobalamin C disease 1 0 1 2
Congenital myasthenic syndrome 18 0 0 2 2
Cornelia de Lange syndrome 4 2 0 0 2
Dilated cardiomyopathy 1Y 1 1 0 2
Fraser syndrome 2 2 0 0 2
Glaucoma 3A 0 1 1 2
Hemochromatosis type 1 2 0 0 2
Hypertrophic cardiomyopathy 2 2 0 0 2
Hypertrophic cardiomyopathy 9 0 0 2 2
Immunodeficiency 0 0 2 2
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 0 2 0 2
Intellectual disability, X-linked 1 0 0 2 2
Intellectual disability, X-linked 102 1 0 1 2
Intellectual disability, autosomal recessive 44 0 1 1 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 1 2
Joubert syndrome 14 2 0 0 2
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 0 2 2
Micromelia 0 1 1 2
Mitochondrial complex III deficiency nuclear type 1 1 1 0 2
Mowat-Wilson syndrome 1 0 1 2
Neuronal ceroid lipofuscinosis 2 1 0 1 2
Noonan syndrome 2 1 1 0 2
Polydactyly 1 0 1 2
Pontocerebellar hypoplasia type 9 0 0 2 2
Salla disease 2 0 0 2
Schaaf-Yang syndrome 2 0 0 2
Schwartz-Jampel syndrome 0 0 2 2
Seizure; Intellectual disability 1 1 0 2
Snijders Blok-Campeau syndrome 1 1 0 2
Thanatophoric dysplasia type 1 2 0 0 2
Tricuspid atresia; Ventricular septal defect 0 0 2 2
Ullrich congenital muscular dystrophy 1A 1 1 0 2
Wieacker-Wolff syndrome 0 2 0 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 1 0 0 1
4p partial monosomy syndrome 0 0 1 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 1 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 1
ALG1-congenital disorder of glycosylation 0 0 1 1
Aarskog syndrome 0 0 1 1
Achondrogenesis, type IB 1 0 0 1
Acrofacial dysostosis Cincinnati type 0 0 1 1
Acromesomelic dysplasia 2C, Hunter-Thompson type 0 0 1 1
Agammaglobulinemia 10, autosomal dominant 0 1 0 1
Alagille syndrome due to a JAG1 point mutation 1 0 0 1
Allan-Herndon-Dudley syndrome 0 1 0 1
Alveolar capillary dysplasia with pulmonary venous misalignment 0 1 0 1
Ambiguous genitalia 0 0 1 1
Amyotrophic lateral sclerosis type 2, juvenile 1 0 0 1
Androgen resistance syndrome 1 0 0 1
Anophthalmia/microphthalmia-esophageal atresia syndrome 1 0 0 1
Aortic valve disease 2 0 1 0 1
Arrhythmogenic right ventricular dysplasia, familial, 14 1 0 0 1
Aspartylglucosaminuria 1 0 0 1
Atrial septal defect; Congenital diaphragmatic hernia 0 0 1 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 0 0 1 1
Autosomal dominant pseudohypoaldosteronism type 1 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 21 0 0 1 1
Autosomal recessive nonsyndromic hearing loss 28 0 1 0 1
Autosomal recessive polycystic kidney disease 1 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 1
Baraitser-Winter syndrome 1 0 0 1 1
Baraitser-winter syndrome 2 1 0 0 1
Bardet-Biedl syndrome 22 0 1 0 1
Basilicata-Akhtar syndrome 1 0 0 1
Bilateral cleft lip 0 0 1 1
Biotin-responsive basal ganglia disease 0 1 0 1
Branchiooculofacial syndrome 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 0 1 0 1
C syndrome 0 0 1 1
Capillary hemangioma 0 0 1 1
Capillary malformation-arteriovenous malformation 1 1 0 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 1 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 1 0 0 1
Cerebral cavernous malformation 1 0 0 1
Cerebral cavernous malformation 3 1 0 0 1
Cerebral palsy; Hearing impairment; Neurodevelopmental delay 0 1 0 1
Cerebrooculofacioskeletal syndrome 3 0 0 1 1
Childhood apraxia of speech 1 0 0 1
Ciliary dyskinesia, primary, 40 1 0 0 1
Citrullinemia type I 1 0 0 1
Coffin-Lowry syndrome 1 0 0 1
Complex cortical dysplasia with other brain malformations 5 0 1 0 1
Complex cortical dysplasia with other brain malformations 7 0 0 1 1
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 0 1 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 1 0 0 1
Congenital diarrhea 6 0 1 0 1
Congenital diarrhea 7 with exudative enteropathy 1 0 0 1
Congenital heart defects, multiple types, 3 1 0 0 1
Congenital omphalocele; Micrognathia; Hypoplasia of the corpus callosum 0 0 1 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 0 1 1
Cornelia de Lange syndrome 3 0 0 1 1
Cornelia de Lange syndrome 5 0 1 0 1
Coronary artery disease, autosomal dominant 2; Tooth agenesis, selective, 7 0 0 1 1
Corpus callosum, agenesis of; Diabetes mellitus 0 0 1 1
Costello syndrome 1 0 0 1
Cowden syndrome 5 1 0 0 1
Cyanosis, transient neonatal 0 1 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 1
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Lymphatic malformation 6 1 0 0 1
Delayed speech and language development; Postaxial polydactyly 1 0 0 1
Developmental and epileptic encephalopathy, 11 1 0 0 1
Developmental and epileptic encephalopathy, 46 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 1
Diabetes insipidus, nephrogenic, autosomal 1 0 0 1
Diaphragmatic hernia 3 1 0 0 1
Diencephalic-mesencephalic junction dysplasia syndrome 1 0 0 1 1
Diets-Jongmans syndrome 0 0 1 1
Dilated cardiomyopathy 3B 1 0 0 1
Distal arthrogryposis type 5D 1 0 0 1
Distal myopathy with posterior leg and anterior hand involvement 0 0 1 1
Ehlers-Danlos syndrome, arthrochalasia type, 2 0 0 1 1
Epilepsy with myoclonic atonic seizures 0 1 0 1
Epilepsy, early-onset, vitamin B6-dependent 0 0 1 1
Episodic ataxia type 2 0 1 0 1
FG syndrome 2 0 0 1 1
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 0 1 0 1
Familial cancer of breast 1 0 0 1
Familial dysautonomia 0 0 1 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 1
Female infertility due to zona pellucida defect 1 0 0 1
Fetal akinesia deformation sequence 3 1 0 0 1
Floating-Harbor syndrome 1 0 0 1
Focal-onset seizure 1 0 0 1
Friedreich ataxia 1 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 1 1
Genitopatellar syndrome 1 0 0 1
Geroderma osteodysplastica 0 0 1 1
Global developmental delay; Speech apraxia 1 0 0 1
Heart, malformation of 0 0 1 1
Hepatosplenomegaly 0 1 0 1
Hereditary spastic paraplegia 30 1 0 0 1
Heterotaxy, visceral, 1, X-linked 0 1 0 1
Heterotaxy, visceral, 4, autosomal 0 1 0 1
Heterotaxy, visceral, 5, autosomal 0 0 1 1
Hirschsprung disease, susceptibility to, 1 0 0 1 1
Holt-Oram syndrome 1 0 0 1
Houge-Janssens syndrome 1 1 0 0 1
Hurler syndrome 1 0 0 1
Hyper-IgM syndrome type 2 1 0 0 1
Hypercholesterolemia, autosomal dominant, type B 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 2 0 0 1 1
Hypertrophic cardiomyopathy 14 0 0 1 1
Hypogonadotropic hypogonadism 3 with or without anosmia 0 1 0 1
Hypotonia with lactic acidemia and hyperammonemia 0 0 1 1
Imagawa-Matsumoto syndrome 0 1 0 1
Infantile cerebellar-retinal degeneration 0 0 1 1
Infantile convulsions and choreoathetosis 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 1
Intellectual disability 0 1 0 1
Intellectual disability, X-linked 99 1 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 0 1 1
Intellectual disability, X-linked, syndromic, Bain type 1 0 0 1
Intellectual disability, autosomal dominant 1 0 1 0 1
Intellectual disability, autosomal dominant 14 1 0 0 1
Intellectual disability, autosomal dominant 22 1 0 0 1
Intellectual disability, autosomal dominant 29 1 0 0 1
Intellectual disability, autosomal dominant 40 1 0 0 1
Intellectual disability, autosomal dominant 5 0 1 0 1
Intellectual disability, autosomal dominant 52 0 1 0 1
Intellectual disability, autosomal dominant 58 1 0 0 1
Intellectual disability, autosomal dominant 9 1 0 0 1
Joubert syndrome 10 0 1 0 1
Joubert syndrome 5 1 0 0 1
Kleefstra syndrome 1 1 0 0 1
Landau-Kleffner syndrome 0 1 0 1
Lymphatic malformation 9 0 1 0 1
MEHMO syndrome 0 0 1 1
MELAS syndrome 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 1 0 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 1
Microcephaly 1, primary, autosomal recessive 0 1 0 1
Microcephaly 18, primary, autosomal dominant 0 0 1 1
Migraine, familial hemiplegic, 2 0 1 0 1
Motor delay; Hirsutism 0 0 1 1
Muscular dystrophy, limb-girdle, autosomal recessive 23 1 0 0 1
Nager syndrome 1 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 1
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 0 1 1
Noonan syndrome 3 1 0 0 1
Noonan syndrome 6 1 0 0 1
Noonan syndrome 8 1 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 1
Osteogenesis imperfecta, perinatal lethal 1 0 0 1
Oto-palato-digital syndrome, type II 0 1 0 1
PCWH syndrome 0 1 0 1
PMM2-congenital disorder of glycosylation 0 1 0 1
Paramyotonia congenita of Von Eulenburg 1 0 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 1 1
Peters plus syndrome 0 0 1 1
Pfeiffer syndrome 0 1 0 1
Pili torti-developmental delay-neurological abnormalities syndrome 0 0 1 1
Poirier-Bienvenu neurodevelopmental syndrome 1 0 0 1
Polycystic kidney disease, adult type 0 0 1 1
Pontocerebellar hypoplasia, type 11 0 0 1 1
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 1
Pseudohypoparathyroidism 1 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 1 0 1
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 1 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 0 1
Saethre-Chotzen syndrome 0 0 1 1
Seizures-scoliosis-macrocephaly syndrome 0 1 0 1
Severe combined immunodeficiency due to DCLRE1C deficiency 1 0 0 1
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 0 0 1
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 1 0 0 1
Skeletal dysplasia and progressive central nervous system degeneration, lethal 1 0 0 1
Spondyloperipheral dysplasia 0 1 0 1
Stereotypic movement disorder; Abnormal facial shape 1 0 0 1
Stickler syndrome type 1 1 0 0 1
Supranuclear palsy, progressive, 1 0 1 0 1
Supravalvar aortic stenosis 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 2 1 0 0 1
Syndromic X-linked intellectual disability Siderius type 0 0 1 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 0 1 1
Tetralogy of Fallot 1 0 0 1
Trichohepatoenteric syndrome 1 1 0 0 1
Trichothiodystrophy 3, photosensitive 0 0 1 1
Trichothiodystrophy 5, nonphotosensitive 0 0 1 1
VACTERL with hydrocephalus 0 0 1 1
Vertebral, cardiac, renal, and limb defects syndrome 1 0 0 1 1
Visceral myopathy 1 1 0 0 1
X-linked Alport syndrome 0 1 0 1
X-linked chondrodysplasia punctata 1 0 0 1 1
X-linked lissencephaly with abnormal genitalia 1 0 0 1
X-linked sideroblastic anemia 1 0 1 0 1

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