ClinVar Miner

Variants from University of Washington Department of Laboratory Medicine, University of Washington

Location: United States  Primary collection method: curation
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
168 165 298 7396 14 8037

Gene and significance breakdown #

Total genes and gene combinations: 256
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
BRCA2 16 2 1 4353 1 4372
BRCA1 10 1 3 1720 1 1734
BRCA1, LOC126862571 3 0 0 595 0 598
MSH6 13 15 50 35 1 114
CTNNA1 0 1 1 98 0 100
MSH2 17 22 29 30 1 98
MLH1 19 20 30 24 0 93
APC 8 3 9 64 0 84
PTEN 3 4 0 51 0 58
BRIP1 3 2 2 50 0 57
PMS2 6 7 20 7 4 44
BARD1 0 1 0 32 0 33
CHEK2 4 5 2 20 0 31
ATR 0 0 3 25 0 28
SMAD4 2 3 0 22 1 28
ATM 1 8 0 16 0 25
PALB2 15 0 0 9 1 25
NBN 1 0 0 19 0 20
CDH1 2 2 4 10 0 18
GEN1 0 0 2 15 0 17
PPM1D 0 0 1 14 0 15
ATM, C11orf65 1 1 2 10 0 14
POLE 0 0 3 10 1 14
BMPR1A 4 0 2 7 0 13
PIK3CA 0 0 0 13 0 13
RAD51C 0 1 1 11 0 13
BAP1 1 0 0 10 0 11
MRE11 0 0 3 8 0 11
TP53 4 3 2 3 0 11
ABRAXAS1 0 0 1 9 0 10
XRCC2 0 0 3 7 0 10
RAD51B 0 0 1 8 0 9
BLM 0 0 0 8 0 8
BRCC3 0 0 0 8 0 8
SDHB 0 0 0 7 0 7
STK11 0 0 1 5 0 6
CHEK1 0 0 1 4 0 5
EPCAM 0 0 0 5 0 5
MUTYH 3 1 0 1 0 5
BRIP1, LOC110120932 0 0 0 4 0 4
GREM1 0 0 1 3 0 4
LOC107303340, VHL 1 0 0 3 0 4
ASH1L 0 1 2 0 0 3
BRCA1, LOC110485084, LOC111589216 0 0 0 3 0 3
CDKN2A 1 0 1 1 0 3
DYRK1A 1 0 2 0 0 3
GALNT12 0 0 1 2 0 3
POLD1 0 0 0 3 0 3
AP1G1 0 0 2 0 0 2
AXIN2 1 0 0 1 0 2
BRCA1, LOC111589215 0 0 0 2 0 2
BSN 0 0 2 0 0 2
CACNA1A 0 1 1 0 0 2
CTNNA1, LRRTM2 0 0 0 2 0 2
CTNNB1, LOC126806658 0 2 0 0 0 2
DCHS1 0 0 2 0 0 2
DLL1 0 2 0 0 0 2
GATAD2B 1 0 1 0 0 2
KDM5B 0 1 1 0 0 2
KMT2E 1 1 0 0 0 2
LDHB 0 0 2 0 0 2
MED13L 0 1 1 0 0 2
MEN1 0 0 0 1 1 2
MYT1L 0 1 1 0 0 2
NARS1 0 0 2 0 0 2
NIPBL 0 1 1 0 0 2
NLGN4X 0 0 2 0 0 2
NOTCH3 0 2 0 0 0 2
NSD1 1 1 0 0 0 2
PALLD 0 0 0 2 0 2
PIEZO2 2 0 0 0 0 2
RAB18 0 2 0 0 0 2
RAD51D, RAD51L3-RFFL 0 0 1 1 0 2
RET 1 0 0 1 0 2
RPS6KA3 0 0 2 0 0 2
SNHG14, UBE3A 0 2 0 0 0 2
SPEN 0 1 1 0 0 2
SYNGAP1 2 0 0 0 0 2
TAF1 0 0 2 0 0 2
TCF4 0 2 0 0 0 2
VPS13A 0 1 1 0 0 2
ZNF462 0 2 0 0 0 2
ACTN2 0 0 1 0 0 1
AGO1 0 0 1 0 0 1
ALDH18A1 0 1 0 0 0 1
ALKBH8 0 1 0 0 0 1
ANKRD17 0 0 1 0 0 1
APRT 0 1 0 0 0 1
ATM, LOC128772356 0 0 0 1 0 1
ATP1A3 0 0 1 0 0 1
ATP6V0A1 0 0 1 0 0 1
ATP6V1B1 0 1 0 0 0 1
BCORL1 0 0 1 0 0 1
BPTF 0 0 1 0 0 1
BRCA1, LOC110485084 0 0 0 1 0 1
BRWD3 0 0 1 0 0 1
CAMK2A 0 0 1 0 0 1
CAMK2B 0 0 1 0 0 1
CAPN3 0 0 1 0 0 1
CASK 0 0 1 0 0 1
CBL 0 0 1 0 0 1
CDK13 0 1 0 0 0 1
CDK4 0 0 0 1 0 1
CDKN1C 0 0 0 0 1 1
CERT1 0 0 1 0 0 1
CHD1 0 0 1 0 0 1
CHD3 0 0 1 0 0 1
CHEK2, LOC130067165 0 0 0 1 0 1
CLDN19 0 1 0 0 0 1
CLTC, LOC125177523 1 0 0 0 0 1
CNOT1 1 0 0 0 0 1
CNOT1, SETD6 0 0 1 0 0 1
COL3A1 0 0 0 0 1 1
COMP 0 1 0 0 0 1
COPB2 0 1 0 0 0 1
CPT1A 1 0 0 0 0 1
CREBBP 0 1 0 0 0 1
CSNK2B 0 0 1 0 0 1
CTNNA1, LOC129994750 0 0 0 1 0 1
CTR9 0 0 1 0 0 1
CUX1 0 1 0 0 0 1
CYFIP2, LOC126807569, NIPAL4-DT 0 0 1 0 0 1
D2HGDH 0 0 1 0 0 1
DCAF17 1 0 0 0 0 1
DDX3X 0 0 1 0 0 1
DICER1 0 1 0 0 0 1
DIPK1A, RPL5 0 1 0 0 0 1
DLG4, LOC126862479 0 0 1 0 0 1
DNMT1 0 0 1 0 0 1
DNMT3A 1 0 0 0 0 1
DOHH 0 0 1 0 0 1
DPYS 0 0 1 0 0 1
DYNC1H1 0 0 1 0 0 1
EHMT1 0 0 1 0 0 1
ENG 0 1 0 0 0 1
EPCAM, STPG4 0 0 0 1 0 1
FAM13A 0 0 1 0 0 1
FOXP1 1 0 0 0 0 1
FRMPD4 0 0 1 0 0 1
GAA 0 0 1 0 0 1
GABBR1 0 1 0 0 0 1
GHSR 0 0 1 0 0 1
GORAB 1 0 0 0 0 1
GRIN1 0 0 1 0 0 1
HESX1 0 0 1 0 0 1
HGSNAT 1 0 0 0 0 1
HK1 0 0 1 0 0 1
HNRNPH1, LOC128966623 0 0 1 0 0 1
HOXB13 1 0 0 0 0 1
HSPD1 0 0 1 0 0 1
ITSN1 0 1 0 0 0 1
JMJD8, STUB1 0 0 1 0 0 1
JUP 0 0 1 0 0 1
KCNB1 0 0 1 0 0 1
KCNK9 0 0 1 0 0 1
KCNQ2 0 1 0 0 0 1
KDM4B 0 1 0 0 0 1
KIF1C, LOC126862472 0 0 1 0 0 1
KIT 0 0 0 1 0 1
KMT2B 0 0 1 0 0 1
KMT2C 0 0 1 0 0 1
LNPK 0 0 1 0 0 1
LOC110006317, LOC110006318, LOC121627843, LOC125371447, LOC130062896, LOC130062897, LOC130062898, STK11 1 0 0 0 0 1
LOC114827850, MYL2 0 0 1 0 0 1
LOC125371447, STK11 0 0 0 1 0 1
LOC126806462, SATB2 1 0 0 0 0 1
LOC126860891, ODAD2 0 1 0 0 0 1
LOC126861339, SDHD 0 0 0 1 0 1
LOC126862483, TP53, WRAP53 0 0 0 1 0 1
LOC129933707, MSH6 0 0 0 1 0 1
LOC129997916, PMS2 0 0 0 1 0 1
LOC130005368, RRAS2 0 1 0 0 0 1
LOC130009266, POLE 0 0 0 1 0 1
LOC130064985, POLD1 0 0 0 1 0 1
LOC130064986, POLD1 0 0 0 1 0 1
LZTR1 0 0 1 0 0 1
MACF1 0 0 1 0 0 1
MAGEL2 1 0 0 0 0 1
MAPK8IP3 0 0 1 0 0 1
MED12 0 1 0 0 0 1
MED13 0 0 1 0 0 1
MIP 0 0 1 0 0 1
MMP2 1 0 0 0 0 1
MTOR 0 0 0 1 0 1
NAA15 0 1 0 0 0 1
NF2 0 1 0 0 0 1
NFIA 0 1 0 0 0 1
NFIB 0 0 1 0 0 1
NFIX 0 1 0 0 0 1
NFKB1 0 1 0 0 0 1
NKX2-1, SFTA3 0 0 1 0 0 1
NLRP3 0 1 0 0 0 1
NPC1 0 0 1 0 0 1
NSD2 0 0 1 0 0 1
NUP214 0 0 1 0 0 1
OGT 0 0 1 0 0 1
PACS1 0 0 1 0 0 1
PARN 0 0 1 0 0 1
PAX6 0 1 0 0 0 1
PGAP3 0 1 0 0 0 1
PHIP 1 0 0 0 0 1
PKD2 0 0 1 0 0 1
PLCB4 0 1 0 0 0 1
POLR1A 0 0 1 0 0 1
POLR2A 0 1 0 0 0 1
POLR3B 0 0 1 0 0 1
POT1 0 0 0 1 0 1
POU3F2 0 0 1 0 0 1
PRKACB 0 0 1 0 0 1
PRMT7 0 1 0 0 0 1
PRR12 0 1 0 0 0 1
PRSS1, TRB 0 0 0 1 0 1
RAD50 0 0 0 1 0 1
RAI1 0 0 1 0 0 1
RHOBTB2 1 0 0 0 0 1
RPS24 1 0 0 0 0 1
SATB1 0 0 1 0 0 1
SBDS 1 0 0 0 0 1
SCN5A 0 0 1 0 0 1
SDHA 0 0 0 1 0 1
SDHC 0 0 0 1 0 1
SDHD 0 0 0 1 0 1
SETD1A 0 0 1 0 0 1
SETD1B 0 0 1 0 0 1
SETD5 0 0 1 0 0 1
SHANK3 0 0 1 0 0 1
SI 0 0 1 0 0 1
SLC2A1 1 0 0 0 0 1
SLC32A1 0 0 1 0 0 1
SLC45A2 0 0 1 0 0 1
SLC6A8 0 1 0 0 0 1
SMAD2 0 0 1 0 0 1
SMARCA4 0 0 1 0 0 1
SMARCE1 0 0 1 0 0 1
SON 1 0 0 0 0 1
SOX11 0 0 1 0 0 1
SOX17 0 0 1 0 0 1
SPTB 0 1 0 0 0 1
SYNE1 0 0 1 0 0 1
TANC2 0 0 1 0 0 1
TAOK1 0 0 1 0 0 1
TBX1 0 1 0 0 0 1
TBX3 0 1 0 0 0 1
TET3 0 0 1 0 0 1
THOC2 0 0 1 0 0 1
TMEM67 0 0 1 0 0 1
TPO 0 0 1 0 0 1
TRIO 0 0 1 0 0 1
TSC1 0 0 0 1 0 1
TUBB2B 1 0 0 0 0 1
VHL 0 0 0 1 0 1
WDFY3 0 1 0 0 0 1
WDR62 0 0 1 0 0 1
XDH 0 1 0 0 0 1
ZBTB20 0 1 0 0 0 1
ZSWIM6 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 221
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Hereditary cancer-predisposing syndrome 39 15 34 7305 0 7393
Lynch syndrome 53 27 123 41 6 250
Breast-ovarian cancer, familial, susceptibility to, 1 27 0 4 1 0 32
Colorectal cancer, susceptibility to 7 0 9 2 0 18
Lynch syndrome 5 0 10 3 2 0 15
Colorectal cancer, hereditary nonpolyposis, type 2 0 11 1 0 0 12
Breast and colorectal cancer, susceptibility to 4 5 2 0 0 11
Lynch syndrome 1 1 9 0 0 0 10
Familial cancer of breast 0 0 1 7 1 9
Hereditary breast ovarian cancer syndrome 1 1 0 4 2 8
Colorectal cancer, susceptibility to, 12 0 0 0 6 1 7
Lynch syndrome 4 1 5 0 1 0 7
Cowden syndrome 3 3 0 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 2 1 2 0 1 0 4
Familial adenomatous polyposis 1 1 3 0 0 0 4
Hereditary diffuse gastric adenocarcinoma 0 1 0 3 0 4
Hereditary nonpolyposis colon cancer 0 1 1 2 0 4
Li-Fraumeni syndrome 1 0 1 2 0 4
DYRK1A-related intellectual disability syndrome 1 0 2 0 0 3
Familial multiple polyposis syndrome 0 0 0 3 0 3
Intellectual disability, autosomal dominant 52 0 1 2 0 0 3
Angelman syndrome 0 2 0 0 0 2
Arthrogryposis, distal, with impaired proprioception and touch 2 0 0 0 0 2
Ataxia-telangiectasia syndrome 1 1 0 0 0 2
Autism, susceptibility to, X-linked 2 0 0 2 0 0 2
BSN related epilepsy 0 0 2 0 0 2
Breast-ovarian cancer, familial, susceptibility to, 3 0 1 0 1 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 1 0 0 2
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 2 0 0 0 2
Coffin-Lowry syndrome 0 0 2 0 0 2
Colorectal cancer 1 1 0 0 0 2
Cornelia de Lange syndrome 1 0 1 1 0 0 2
Cowden syndrome 1 0 0 0 2 0 2
DCHS1-related congenital anomalies of the kidney and urinary tract 0 0 2 0 0 2
Developmental and epileptic encephalopathy, 42 0 1 1 0 0 2
Familial adenomatous polyposis 2 0 1 0 1 0 2
Generalized juvenile polyposis/juvenile polyposis coli 0 1 0 1 0 2
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 0 0 2 0 0 2
Intellectual disability, X-linked, syndromic 33 0 0 2 0 0 2
Intellectual disability, autosomal dominant 39 0 1 1 0 0 2
Intellectual disability, autosomal dominant 5 2 0 0 0 0 2
Intellectual disability, autosomal recessive 65 0 1 1 0 0 2
Juvenile polyposis syndrome 0 2 0 0 0 2
Lynch syndrome 5; Mismatch repair cancer syndrome 3 0 1 1 0 0 2
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 0 0 2 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 2 0 0 0 2
O'Donnell-Luria-Rodan syndrome 1 1 0 0 0 2
Pancreatic cancer, susceptibility to, 1 0 0 0 2 0 2
Peutz-Jeghers syndrome 0 0 0 2 0 2
Pitt-Hopkins syndrome 0 2 0 0 0 2
Radio-Tartaglia syndrome 0 1 1 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 1 0 0 2
Sotos syndrome 1 1 0 0 0 2
Usmani-Riazuddin syndrome, autosomal dominant 0 0 2 0 0 2
VPS13A-related neurodegenerative disease 0 1 1 0 0 2
Vissers-Bodmer syndrome 1 0 1 0 0 2
Warburg micro syndrome 3 0 2 0 0 0 2
Weiss-Kruszka syndrome 0 2 0 0 0 2
ALDH18A1-related de Barsy syndrome; Hereditary spastic paraplegia 9A; Autosomal recessive complex spastic paraplegia type 9B; Cutis laxa, autosomal dominant 3 0 1 0 0 0 1
Acrofacial dysostosis Cincinnati type 0 0 1 0 0 1
Adenine phosphoribosyltransferase deficiency 0 1 0 0 0 1
Aniridia 1; Irido-corneo-trabecular dysgenesis 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 12 0 0 1 0 0 1
Auriculocondylar syndrome 2 0 1 0 0 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy 0 0 1 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 0 0 1 0 0 1
Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 0 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 0 1
Autosomal recessive spinocerebellar ataxia 16; Spinocerebellar ataxia 48 0 0 1 0 0 1
Beck-Fahrner syndrome 0 0 1 0 0 1
Benign hereditary chorea 0 0 1 0 0 1
Birk-Barel syndrome 0 0 1 0 0 1
Brain malformations with or without urinary tract defects 0 1 0 0 0 1
Breast cancer, susceptibility to 0 0 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 0 0 0 1 0 1
Brugada syndrome 1; Long QT syndrome 3; Dilated cardiomyopathy 1E 0 0 1 0 0 1
CBL-related disorder 0 0 1 0 0 1
CHEK2-related cancer predisposition 0 1 0 0 0 1
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; Nephronophthisis 11 0 0 1 0 0 1
Cardioacrofacial dysplasia 2 0 0 1 0 0 1
Carnitine palmitoyl transferase 1A deficiency 1 0 0 0 0 1
Cataract 15 multiple types 0 0 1 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2 0 0 1 0 0 1
Cholestasis-pigmentary retinopathy-cleft palate syndrome 0 1 0 0 0 1
Chopra-Amiel-Gordon syndrome 0 0 1 0 0 1
Chromosome 2q32-q33 deletion syndrome 1 0 0 0 0 1
Chronic infantile neurological, cutaneous and articular syndrome 0 1 0 0 0 1
Coffin-Siris syndrome 5 0 0 1 0 0 1
Complex cortical dysplasia with other brain malformations 7 1 0 0 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 0 1
Creatine transporter deficiency 0 1 0 0 0 1
D-2-hydroxyglutaric aciduria 1 0 0 1 0 0 1
DOHH related neurodevelopmental disorder 0 0 1 0 0 1
Deficiency of iodide peroxidase 0 0 1 0 0 1
Desmoid disease, hereditary 0 1 0 0 0 1
Developmental and epileptic encephalopathy 104; Neurodevelopmental disorder with epilepsy and brain atrophy 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 26 0 0 1 0 0 1
Developmental and epileptic encephalopathy, 64 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 65 0 0 1 0 0 1
Developmental delay with dysmorphic facies and dental anomalies; Kohlschutter-Tonz syndrome-like 0 0 1 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 0 0 1
Diamond-Blackfan anemia 3 1 0 0 0 0 1
Diamond-Blackfan anemia 6 0 1 0 0 0 1
Dihydropyrimidinase deficiency 0 0 1 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 0 0 1
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 0 1
Ehlers-Danlos syndrome 0 0 0 0 1 1
Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2 1 0 0 0 0 1
Encephalopathy, acute, infection-induced, susceptibility to, 9 0 0 1 0 0 1
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 0 0 1
FAM13A-related pulmonary fibrosis 0 0 1 0 0 1
FG syndrome 4 0 0 1 0 0 1
Familial colorectal cancer 0 0 0 1 0 1
GABBR1-related neurodevelopmental disorder 0 1 0 0 0 1
Gastrointestinal stromal tumor 0 0 0 1 0 1
Geroderma osteodysplastica 1 0 0 0 0 1
Global developmental delay with or without impaired intellectual development 0 1 0 0 0 1
Glycogen storage disease, type II 0 0 1 0 0 1
Hereditary spastic paraplegia 13 0 0 1 0 0 1
Hereditary spherocytosis type 2 0 1 0 0 0 1
Hereditary xanthinuria type 1 0 1 0 0 0 1
Hyperphosphatasia with intellectual disability syndrome 4 0 1 0 0 0 1
Hypertrophic cardiomyopathy 10 0 0 1 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; Charcot-Marie-Tooth disease, demyelinating, IIA 1I 0 0 1 0 0 1
IMAGe syndrome; Beckwith-Wiedemann syndrome due to CDKN1C mutation 0 0 0 0 1 1
ITSN1-related neurodevelopmental disorder 0 1 0 0 0 1
Immunodeficiency, common variable, 12 0 1 0 0 0 1
Intellectual developmental disorder 61 0 0 1 0 0 1
Intellectual developmental disorder 62 0 0 1 0 0 1
Intellectual developmental disorder with autistic features and language delay, with or without seizures 0 0 1 0 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 1 0 0 1
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 0 0 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 0 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 71 0 1 0 0 0 1
Intellectual disability, X-linked 102 0 0 1 0 0 1
Intellectual disability, X-linked 104 0 0 1 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 1
Intellectual disability, X-linked 93 0 0 1 0 0 1
Intellectual disability, autosomal dominant 16 0 0 1 0 0 1
Intellectual disability, autosomal dominant 34 0 0 1 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 0 1
Intellectual disability, autosomal dominant 53 0 0 1 0 0 1
Intellectual disability, autosomal dominant 54 0 0 1 0 0 1
Intellectual disability, autosomal dominant 56 1 0 0 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 0 1 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 0 0 0 0 1
Isolated focal cortical dysplasia type II 0 0 0 1 0 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 0 0 0 0 1 1
Kleefstra syndrome 1 0 0 1 0 0 1
Kleefstra syndrome 2 0 0 1 0 0 1
Li-Fraumeni syndrome 1 0 1 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 0 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 0 0 1 0 0 1
Macrocephaly-autism syndrome; Cowden syndrome 1 0 1 0 0 0 1
Marshall-Smith syndrome; Malan overgrowth syndrome 0 1 0 0 0 1
Microcephaly 18, primary, autosomal dominant 0 1 0 0 0 1
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 0 1 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 0 1 0 0 1
Mucopolysaccharidosis, MPS-III-C 1 0 0 0 0 1
Multicentric osteolysis, nodulosis, and arthropathy 1 0 0 0 0 1
Multiple endocrine neoplasia, type 1 0 0 0 0 1 1
Multiple epiphyseal dysplasia type 1; Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 0 1 0 0 0 1
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects 0 0 1 0 0 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 0 0 1
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 0 0 1 0 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 0 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 0 1 0 0 1
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 0 0 1 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 0 0 1 0 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 0 1
Neurodevelopmental disorder with visual defects and brain anomalies 0 0 1 0 0 1
Neurofibromatosis, type 2 0 1 0 0 0 1
Neuroocular syndrome 1 0 1 0 0 0 1
Niemann-Pick disease, type C1 0 0 1 0 0 1
Noonan syndrome 10 0 0 1 0 0 1
Noonan syndrome 12 0 1 0 0 0 1
Oculocutaneous albinism type 4 0 0 1 0 0 1
Oligodontia-cancer predisposition syndrome 0 0 0 1 0 1
Osteoporosis, childhood- or juvenile-onset, with developmental delay 0 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 0 0 0 0 1
POU3F2-related disorder 0 0 1 0 0 1
Phelan-McDermid syndrome 0 0 1 0 0 1
Pheochromocytoma/paraganglioma syndrome 5 0 0 0 1 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 0 1
Pleuropulmonary blastoma 0 1 0 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 0 1 0 0 1
Polycystic kidney disease 2 0 0 1 0 0 1
Primary ciliary dyskinesia 23 0 1 0 0 0 1
Primrose syndrome 0 1 0 0 0 1
Prostate cancer susceptibility 1 0 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 0 1 0 0 1
Rauch-Steindl syndrome 0 0 1 0 0 1
Renal hypomagnesemia 5 with ocular involvement 0 1 0 0 0 1
Renal tubular acidosis with progressive nerve deafness 0 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 1 0 0 0 1
SLC32A1-related epilepsy 0 0 1 0 0 1
SMAD2- related Loeys-Dietz syndrome 0 0 1 0 0 1
SOX17-related pulmonary arterial hypertension 0 0 1 0 0 1
Schaaf-Yang syndrome 1 0 0 0 0 1
Schuurs-Hoeijmakers syndrome 0 0 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 0 0 1
Septo-optic dysplasia sequence 0 0 1 0 0 1
Short stature due to growth hormone secretagogue receptor deficiency 0 0 1 0 0 1
Short stature-brachydactyly-obesity-global developmental delay syndrome 0 1 0 0 0 1
Shukla-Vernon syndrome 0 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 0 1
Smith-Magenis syndrome 0 0 1 0 0 1
Snijders Blok-Campeau syndrome 0 0 1 0 0 1
Spastic ataxia 2 0 0 1 0 0 1
Sucrase-isomaltase deficiency 0 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 1 0 1 0 0 0 1
Tuberous sclerosis 1 0 0 0 1 0 1
Tumor predisposition syndrome 3 0 0 0 1 0 1
Ulnar-mammary syndrome 0 1 0 0 0 1
Velocardiofacial syndrome; DiGeorge syndrome 0 1 0 0 0 1
Wilms tumor susceptibility 0 0 1 0 0 1
Woodhouse-Sakati syndrome 1 0 0 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 0 1
ZTTK syndrome 1 0 0 0 0 1

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