ClinVar Miner

Variants from Clinical Genomics Laboratory, Washington University in St. Louis

Location: United States  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 likely risk allele total
126 106 467 0 0 1 700

Gene and significance breakdown #

Total genes and gene combinations: 399
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely risk allele total
PIK3CA 19 8 1 0 28
PIEZO1 0 1 18 0 19
FAT4 0 0 18 0 18
TEK 9 4 3 0 16
DCHS1 0 0 11 0 11
TTN 0 4 7 0 11
CELSR1 0 0 10 0 10
LZTR1 1 1 8 0 10
GNAS 2 0 7 0 9
MTOR 1 1 6 0 8
NF1 4 0 4 0 8
PTPN14 0 0 8 0 8
SMO 0 0 8 0 8
CCNH, RASA1 2 2 3 0 7
EPHB4 0 1 5 0 6
GLMN 2 1 3 0 6
HRAS, LRRC56 2 3 1 0 6
TSC1 0 0 6 0 6
MAP2K1 0 3 2 0 5
TSC2 0 0 5 0 5
ADAMTS13 0 1 3 0 4
CCDST, FLG 4 0 0 0 4
FLT4 0 0 4 0 4
GNAQ 3 1 0 0 4
KRAS 3 1 0 0 4
KRIT1 1 0 3 0 4
MYBPC3 3 0 1 0 4
CACNA1A 1 2 0 0 3
FGFR1 0 0 3 0 3
FGFR2 0 0 3 0 3
HUWE1 0 0 3 0 3
KCNH2 0 1 2 0 3
KDR 0 0 3 0 3
KEL 0 0 3 0 3
MED13 0 0 3 0 3
PALB2 2 1 0 0 3
PDGFRB 0 0 3 0 3
PIK3R1 1 2 0 0 3
POLR2A 0 0 3 0 3
PTEN 2 0 1 0 3
TET3 0 1 2 0 3
ADAMTS10 0 0 2 0 2
ADCY6 0 0 2 0 2
ADGRL1 0 0 2 0 2
ANKRD11 1 0 1 0 2
APOL1 0 0 2 0 2
ARAF 0 0 2 0 2
BRAF 2 0 0 0 2
BRCA2 2 0 0 0 2
BRPF1 2 0 0 0 2
BSN 0 0 2 0 2
CCBE1 0 0 2 0 2
CFH 0 1 1 0 2
CHD5 0 0 2 0 2
CLDN14 0 0 2 0 2
COL21A1 0 0 2 0 2
COL22A1 0 0 2 0 2
COL4A3, MFF-DT 0 1 1 0 2
CTNNB1, LOC126806658 0 1 1 0 2
CUBN 0 0 2 0 2
CYP51A1 0 0 2 0 2
DLG4 0 1 1 0 2
DLL1 0 1 1 0 2
DMXL2 0 0 2 0 2
DNAH5 0 0 2 0 2
EMP2 0 1 1 0 2
EPHB4, LOC126860124 0 0 2 0 2
GJC2 0 0 2 0 2
GNA11 2 0 0 0 2
GNA14 0 0 2 0 2
HSALR1, PIEZO1 0 0 2 0 2
IDH1 1 0 1 0 2
IDH2 0 0 2 0 2
IQSEC2 0 0 2 0 2
KAT5 0 0 2 0 2
KCNQ1 2 0 0 0 2
KMT2A 2 0 0 0 2
KMT2B 0 0 2 0 2
KMT2D 0 1 1 0 2
KRT1 0 0 2 0 2
KRT10 2 0 0 0 2
LOC102724058, SCN1A 0 1 1 0 2
MET 0 0 2 0 2
MSH2 2 0 0 0 2
MSH6 0 2 0 0 2
MYH7 0 0 2 0 2
NEDD4L 0 0 2 0 2
NRAS 1 1 0 0 2
OCA2 2 0 0 0 2
PIDD1 0 0 2 0 2
PIK3CD 0 0 2 0 2
PKD1 0 0 2 0 2
PMS2 2 0 0 0 2
POGZ 1 1 0 0 2
POLRMT 0 0 2 0 2
PRICKLE2 0 0 2 0 2
PRKACA 0 0 2 0 2
SHOC2 0 1 1 0 2
SLC25A46 2 0 0 0 2
SNAPC4 0 0 2 0 2
SPTBN1 0 0 2 0 2
SYNGAP1 0 0 2 0 2
THBD 0 0 2 0 2
TNRC6B 0 1 1 0 2
TRRAP 0 0 2 0 2
WDFY3 1 1 0 0 2
WDR11 0 0 2 0 2
WDR24 0 0 2 0 2
ABCA12 0 0 1 0 1
ABCC8 0 0 1 0 1
ABL1 0 0 1 0 1
ABTB3 0 0 1 0 1
ACADSB 0 1 0 0 1
ACBD6, LHX4 0 0 1 0 1
ACSS2, LOC126863018 0 0 1 0 1
ACVRL1 0 0 1 0 1
ADA2 0 1 0 0 1
ADAMTS19 0 0 1 0 1
ADCY5 0 0 1 0 1
ADGRB1 0 0 1 0 1
AIRE 0 0 1 0 1
AIRE, LOC130066813 0 0 1 0 1
AKT1 1 0 0 0 1
ANK2 0 1 0 0 1
ANLN 0 0 1 0 1
ARFGEF1 0 0 1 0 1
ARHGEF12 0 0 1 0 1
ASH1L 0 0 1 0 1
ASIC2 0 0 1 0 1
ASXL3 1 0 0 0 1
ATG4D 0 0 1 0 1
ATP11A 0 0 1 0 1
ATP1A3 0 0 1 0 1
ATP6V1B2 0 0 1 0 1
ATRX 0 0 1 0 1
BAZ2B 0 0 1 0 1
BCL11A 0 0 1 0 1
BMP8B 0 0 1 0 1
BNC2, LOC126860585 0 0 1 0 1
BRCA1 1 0 0 0 1
CACNA1C 1 0 0 0 1
CACNA1D 0 0 1 0 1
CACNA1E 0 0 1 0 1
CACNA1F 1 0 0 0 1
CARD14 0 0 1 0 1
CBS 0 0 1 0 1
CCM2 0 0 1 0 1
CCND2 0 0 1 0 1
CDC42 0 1 0 0 1
CDC42BPB 0 1 0 0 1
CDK13 0 0 1 0 1
CDKN1C 0 0 1 0 1
CEL 0 0 1 0 1
CELSR1, LOC121627952 0 0 1 0 1
CFAP74 0 1 0 0 1
CFHR4 0 0 1 0 1
CFHR5 0 0 1 0 1
CFTR 0 0 1 0 1
CHD1 0 0 1 0 1
CHD2 1 0 0 0 1
CHD3 0 0 1 0 1
CHD7 0 0 1 0 1
COG1, VCF1 0 0 1 0 1
COL10A1, NT5DC1 0 0 1 0 1
COL11A1 0 1 0 0 1
COL11A2 0 0 1 0 1
COL1A1 0 0 1 0 1
COL4A5 0 0 1 0 1
COL9A2 1 0 0 0 1
CPEB4 0 0 1 0 1
CPOX 0 1 0 0 1
CPT2 0 1 0 0 1
CREBBP 0 1 0 0 1
CSTB 1 0 0 0 1
CTNNB1, LOC126806659 0 0 1 0 1
CUBN, LOC129390143 0 0 1 0 1
DAGLA 0 0 1 0 1
DEAF1 0 0 1 0 1
DEPDC5 0 0 1 0 1
DGKE 0 0 1 0 1
DHTKD1 0 1 0 0 1
DMD 0 0 1 0 1
DNAH11 0 0 1 0 1
DNAH8 0 0 1 0 1
DNASE1 0 0 1 0 1
DPYD 0 1 0 0 1
DPYSL2 0 0 1 0 1
DPYSL3 0 0 1 0 1
DRD4 0 0 1 0 1
DSG2 0 1 0 0 1
DSP 0 1 0 0 1
DUSP15 0 0 1 0 1
DVL1 0 0 1 0 1
DYNC1H1 0 0 1 0 1
EARS2 1 0 0 0 1
EEF1A1 0 0 1 0 1
EFTUD2 0 1 0 0 1
EIF3F 1 0 0 0 1
ERCC4 0 1 0 0 1
ESCO2 1 0 0 0 1
EXT1 1 0 0 0 1
EYA1 0 0 1 0 1
F11 1 0 0 0 1
FAT1 0 0 1 0 1
FBN3 0 0 1 0 1
FBXW11 0 0 1 0 1
FFAR4 0 0 1 0 1
FGFR3 1 0 0 0 1
FHOD3 0 0 1 0 1
FLNA 0 0 1 0 1
FLNC 1 0 0 0 1
FRMD7 0 1 0 0 1
GABBR1 0 0 1 0 1
GABBR2 0 0 1 0 1
GATAD1, PEX1 1 0 0 0 1
GBA1, LOC106627981 0 1 0 0 1
GBF1 0 0 1 0 1
GCK 0 1 0 0 1
GFAP 0 0 1 0 1
GH-LCR, SCN4A 0 1 0 0 1
GJA4 0 0 1 0 1
GLI2 0 1 0 0 1
GPD2 0 0 1 0 1
GRIA1 0 0 1 0 1
HCFC1 0 0 1 0 1
HDAC4 0 0 1 0 1
HECW2 0 0 1 0 1
HERC1 0 1 0 0 1
HFE 1 0 0 0 1
HGF 0 0 1 0 1
HMGB1, USPL1 0 0 1 0 1
HNF1A 0 0 1 0 1
HNF4A 0 1 0 0 1
HNRNPU 1 0 0 0 1
HOMER2 0 0 1 0 1
IDUA 1 0 0 0 1
IFIH1 0 0 1 0 1
IL7, ZC2HC1A 0 0 1 0 1
IMMT 0 0 1 0 1
INTS11 0 1 0 0 1
INVS 0 0 1 0 1
ITPR1 0 0 1 0 1
ITSN1 0 0 1 0 1
JARID2 0 0 1 0 1
JMJD1C 0 0 1 0 1
KANK1, LOC126860554 0 0 1 0 1
KCNC1 0 0 1 0 1
KCNQ5 0 0 1 0 1
KDM3B 0 0 1 0 1
KDM5B 0 1 0 0 1
KIDINS220 0 1 0 0 1
KIF11 0 0 1 0 1
KIF1A 0 0 1 0 1
KIF21A 1 0 0 0 1
KIF5A 0 0 1 0 1
KLF9-DT, TRPM3 0 0 1 0 1
KMT2E 0 1 0 0 1
LDLR 0 1 0 0 1
LIPE, LOC101930071 0 0 1 0 1
LMNA 0 0 1 0 1
LOC126806878, TBL1XR1 0 1 0 0 1
LOC126861887, SUPT16H 0 0 1 0 1
LOC129930446, MMACHC 1 0 0 0 1
LOC129999303, SMO 0 0 1 0 1
LOC130004340, TNKS2 0 0 1 0 1
LOC130058479, SOCS1 0 0 1 0 1
LOC130066420, SOX18 0 0 1 0 1
LPL 0 0 1 0 1
LRP2 0 1 0 0 1
LRRK2 1 0 0 0 1
LRSAM1 0 0 1 0 1
MAGEL2 0 1 0 0 1
MAP1B 0 0 1 0 1
MAP3K3 0 1 0 0 1
MAPK8IP3 0 0 1 0 1
MARK2 0 0 1 0 1
MAST2 0 0 1 0 1
MC4R 0 0 1 0 1
MED13L 0 0 1 0 1
MID1 1 0 0 0 1
MSI2 0 0 1 0 1
MXRA5 0 0 1 0 1
MYCN 0 1 0 0 1
MYH3 0 1 0 0 1
MYO10 0 0 1 0 1
NAA10 0 1 0 0 1
NAA15 0 1 0 0 1
NAGLU 0 1 0 0 1
NALCN 0 0 1 0 1
NCOR1 0 0 1 0 1
NDUFA9 0 0 1 0 1
NEBL 0 0 1 0 1
NEXMIF 1 0 0 0 1
NLRP3 0 0 1 0 1
NMNAT1 0 1 0 0 1
NPR2 0 0 1 0 1
NRXN3 0 0 1 0 1
NSD1 0 0 1 0 1
NUP205 0 0 1 0 1
NYX 1 0 0 0 1
OBSCN 0 0 1 0 1
PACS1 0 0 1 0 1
PCGF2 0 0 1 0 1
PDE11A 0 0 1 0 1
PDE4D 0 0 1 0 1
PHF14 0 0 1 0 1
PHIP 0 1 0 0 1
PIK3R2 0 0 1 0 1
PKP2 1 0 0 0 1
PLCE1 0 0 1 0 1
PLCG2 0 0 1 0 1
PLEC 0 0 1 0 1
PLP1, RAB9B 0 0 1 0 1
PLXNA3 0 0 1 0 1
PMM2 1 0 0 0 1
PMP2 0 1 0 0 1
PNPLA3 0 0 0 1 1
POGLUT1 0 1 0 0 1
POLD1 0 0 1 0 1
POT1 0 1 0 0 1
PPFIA3 0 0 1 0 1
PPP1R3F 0 0 1 0 1
PPP2R5D 0 1 0 0 1
PSMB11 0 0 1 0 1
PTPN11 1 0 0 0 1
RAB5A 0 0 1 0 1
RANBP2 0 0 1 0 1
RASA1 1 0 0 0 1
RELN 0 0 1 0 1
RERE 0 0 1 0 1
RET 0 1 0 0 1
REV3L 0 0 1 0 1
RHEB 1 0 0 0 1
RNASEH2B 1 0 0 0 1
ROBO4 0 0 1 0 1
ROR2 0 0 1 0 1
RORA 0 1 0 0 1
RRAS 0 0 1 0 1
RYR1 0 1 0 0 1
SALL1 0 0 1 0 1
SCN2A 0 0 1 0 1
SCN5A 1 0 0 0 1
SCN8A 0 0 1 0 1
SDHA 0 0 1 0 1
SEMA6D 0 0 1 0 1
SERPINA1 1 0 0 0 1
SH3RF2 0 0 1 0 1
SHANK1 0 0 1 0 1
SHANK3 1 0 0 0 1
SIK1 0 0 1 0 1
SLC12A2 0 0 1 0 1
SLC17A8 0 0 1 0 1
SLC1A2 0 0 1 0 1
SLC35F1 0 0 1 0 1
SLITRK2 0 0 1 0 1
SMAD3 0 1 0 0 1
SON 0 0 1 0 1
SOS1 0 0 1 0 1
SOS2 0 0 1 0 1
SPG11 1 0 0 0 1
SPI1 0 1 0 0 1
SPOP 0 0 1 0 1
SPTAN1 0 0 1 0 1
STAG2 0 0 1 0 1
STAT5B 0 0 1 0 1
STX8 0 0 1 0 1
SYP 0 0 1 0 1
TAOK1 0 0 1 0 1
TBX5 0 1 0 0 1
TGFBR1 0 0 1 0 1
THSD1 0 0 1 0 1
TIE1 0 0 1 0 1
TINF2 0 0 1 0 1
TJP1 0 0 1 0 1
TLK2 0 0 1 0 1
TMC1 1 0 0 0 1
TOP2B 0 0 1 0 1
TP53 0 0 1 0 1
TP63 0 0 1 0 1
TRIM63 0 0 1 0 1
TRIP12 0 0 1 0 1
TTR 1 0 0 0 1
TUBB3 0 1 0 0 1
UBA2 0 0 1 0 1
UBXN7 0 0 1 0 1
UCP3 0 0 1 0 1
UPF2 0 0 1 0 1
VAX2 0 0 1 0 1
WBP11 0 0 1 0 1
WFS1 0 1 0 0 1
WNT10A 0 0 1 0 1
WWP1 0 0 1 0 1
ZBTB20 0 0 1 0 1
ZFHX3 0 0 1 0 1
ZFHX4 0 0 1 0 1
ZNF462 0 0 1 0 1
ZNF469 0 1 0 0 1
ZNF827 0 0 1 0 1
ZNF865 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 360
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely risk allele total
not provided 0 0 78 0 78
PIK3CA related overgrowth syndrome 19 8 0 0 27
Lymphatic malformation 6 0 1 20 0 21
Vascular malformation 9 8 0 0 17
Hennekam lymphangiectasia-lymphedema syndrome 2 0 0 16 0 16
Lymphatic malformation 9 0 0 11 0 11
Multiple cutaneous and mucosal venous malformations 6 2 2 0 10
Lymphedema-posterior choanal atresia syndrome 0 0 8 0 8
Neurofibromatosis, type 1 4 0 4 0 8
Capillary malformation-arteriovenous malformation 1 1 2 3 0 6
Dilated cardiomyopathy 1G 0 3 3 0 6
Glomuvenous malformation 2 1 3 0 6
Hamartoma of hypothalamus 0 0 6 0 6
Noonan syndrome 2; Noonan syndrome 10 1 0 5 0 6
Tuberous sclerosis 1 0 0 6 0 6
Van Maldergem syndrome 1 0 0 6 0 6
Lymphatic malformation 7 0 0 5 0 5
Lymphedema 0 0 5 0 5
Hereditary lymphedema type I 0 0 4 0 4
Hypertrophic cardiomyopathy 4 3 0 1 0 4
Ichthyosis vulgaris 4 0 0 0 4
Overgrowth syndrome 0 2 2 0 4
Tuberous sclerosis 2 0 0 4 0 4
Upshaw-Schulman syndrome 0 1 3 0 4
Beck-Fahrner syndrome 0 1 2 0 3
Capillary malformation-arteriovenous malformation 2 0 1 2 0 3
Cerebral cavernous malformation 1 0 2 0 3
Curry-Jones syndrome 0 0 3 0 3
Epidermal nevus 2 1 0 0 3
Epidermolytic nevus 2 0 1 0 3
Intellectual developmental disorder 61 0 0 3 0 3
Intellectual disability, X-linked syndromic, Turner type 0 0 3 0 3
Isolated focal cortical dysplasia type II 2 0 1 0 3
McCune-Albright syndrome 2 0 1 0 3
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 0 3 0 3
Pseudopseudohypoparathyroidism 0 0 3 0 3
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 0 0 3 0 3
Sturge-Weber syndrome 2 1 0 0 3
Tufted angioma of skin 0 0 3 0 3
APOL1-associated kidney disease 0 0 2 0 2
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly 0 0 2 0 2
Autism 0 0 2 0 2
Breast-ovarian cancer, familial, susceptibility to, 2 2 0 0 0 2
Capillary infantile hemangioma 0 0 2 0 2
Capillary malformation 2 0 0 0 2
Cardioacrofacial dysplasia 1 0 0 2 0 2
Cardiofaciocutaneous syndrome 3 0 0 2 0 2
Combined oxidative phosphorylation deficiency 55 0 0 2 0 2
Developmental and epileptic encephalopathy, 81 0 0 2 0 2
Developmental delay with or without dysmorphic facies and autism 0 0 2 0 2
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 2 0 2
Developmental delay, impaired speech, and behavioral abnormalities; Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 2 0 2
Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 0 1 1 0 2
Episodic ataxia type 2 1 1 0 0 2
FGFR2-related disorder 0 0 2 0 2
Global developmental delay with speech and behavioral abnormalities 0 1 1 0 2
Hemolytic uremic syndrome, atypical, susceptibility to, 1 0 1 1 0 2
Hennekam lymphangiectasia-lymphedema syndrome 1 0 0 2 0 2
Hereditary breast ovarian cancer syndrome 1 1 0 0 2
Hypertrophic cardiomyopathy 9 0 0 2 0 2
Imerslund-Grasbeck syndrome type 1 0 0 2 0 2
Immunodeficiency 14 0 0 2 0 2
Inherited obesity 0 0 2 0 2
Intellectual developmental disorder 62 0 1 1 0 2
Intellectual developmental disorder with dysmorphic facies and ptosis 2 0 0 0 2
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 0 0 2 0 2
Intellectual disability, X-linked 1 0 0 2 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 1 0 0 2
KBG syndrome 1 0 1 0 2
Kabuki syndrome 1 1 1 0 0 2
Large congenital melanocytic nevus 1 1 0 0 2
Lethal congenital contracture syndrome 8 0 0 2 0 2
Long QT syndrome 1 2 0 0 0 2
Long QT syndrome 2 0 1 1 0 2
Lymphatic malformation 3 0 0 2 0 2
Lynch syndrome 1 1 1 0 0 2
Lynch syndrome 4 1 1 0 0 2
Lynch syndrome 5 0 1 1 0 2
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 0 0 2 0 2
Maffucci syndrome 1 0 1 0 2
Microcephaly 18, primary, autosomal dominant 1 1 0 0 2
Nephrotic syndrome, type 10 0 1 1 0 2
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 0 0 2 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 0 1 1 0 2
Neuropathy, hereditary motor and sensory, type 6B; Pontocerebellar hypoplasia, type 1E 2 0 0 0 2
Noonan syndrome 0 0 2 0 2
Noonan syndrome-like disorder with loose anagen hair 1 0 1 1 0 2
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 0 2 0 2
PTEN hamartoma tumor syndrome 2 0 0 0 2
Parenti-mignot neurodevelopmental syndrome 0 0 2 0 2
Periventricular nodular heterotopia 7 0 0 2 0 2
Pfeiffer syndrome 0 0 2 0 2
Polyglandular autoimmune syndrome, type 1 0 0 2 0 2
Primary ciliary dyskinesia 3 0 0 2 0 2
Primary dilated cardiomyopathy 0 0 2 0 2
Severe intellectual disability-progressive spastic diplegia syndrome 0 0 2 0 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 0 2
Van Maldergem syndrome 2 0 0 2 0 2
Vein of Galen aneurysmal malformation 0 0 2 0 2
Weill-Marchesani syndrome 1 0 0 2 0 2
Wiedemann-Steiner syndrome 2 0 0 0 2
13q12.3 microdeletion 0 0 1 0 1
2-aminoadipic 2-oxoadipic aciduria 0 1 0 0 1
ACCES syndrome 0 0 1 0 1
ARAF-related disorder 0 0 1 0 1
Acrocephalosyndactyly type I 0 0 1 0 1
Acrodysostosis 2 with or without hormone resistance 0 0 1 0 1
Agammaglobulinemia 10, autosomal dominant 0 1 0 0 1
Aicardi-Goutieres syndrome 2 1 0 0 0 1
Aldosterone-producing adenoma with seizures and neurological abnormalities 0 0 1 0 1
Alexander disease 0 0 1 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 0 1 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 1
Alport syndrome 3b, autosomal recessive 0 0 1 0 1
Alternating hemiplegia of childhood 2 0 0 1 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 1
Ankyloblepharon filiforme adnatum-cleft palate syndrome 0 0 1 0 1
Aortic valve disease 3 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 0 1
Autism; Seizures, benign familial infantile, 3; Episodic ataxia, type 9; Developmental and epileptic encephalopathy, 76 0 0 1 0 1
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 1 0 1
Autoinflammatory syndrome with immunodeficiency 0 0 1 0 1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome 0 1 0 0 1
Autosomal dominant Parkinson disease 8 1 0 0 0 1
Autosomal dominant Robinow syndrome 2 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Intellectual disability, autosomal dominant 13 0 0 1 0 1
Autosomal dominant deafness - onychodystrophy syndrome 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 25 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 68 0 0 1 0 1
Autosomal dominant polycystic kidney disease 0 0 1 0 1
Autosomal recessive Robinow syndrome 0 0 1 0 1
Autosomal recessive congenital ichthyosis 4B 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2R1 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 39 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 7 1 0 0 0 1
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 0 0 1 0 1
BAZ2B-associated neurodevelopmental disorder 0 0 1 0 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 1 0 1
Beckwith-Wiedemann syndrome 0 0 1 0 1
Body mass index quantitative trait locus 10 0 0 1 0 1
Branchiootorenal syndrome 1 0 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 1 1 0 0 0 1
Brittle cornea syndrome 1 0 1 0 0 1
Brugada syndrome 1 1 0 0 0 1
CFHR5 deficiency 0 0 1 0 1
CHARGE syndrome 0 0 1 0 1
COG1 congenital disorder of glycosylation 0 0 1 0 1
Carcinoma of colon 0 0 1 0 1
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 0 1 0 1
Cardiac valvular dysplasia 2 0 0 1 0 1
Cardiomyopathy, familial hypertrophic, 28 0 0 1 0 1
Carnitine palmitoyl transferase II deficiency, myopathic form 0 1 0 0 1
Cerebral arteriovenous malformation 1 0 0 0 1
Cerebral cavernous malformation 2 0 0 1 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG; Charcot-Marie-Tooth disease, dominant intermediate A 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1G 0 1 0 0 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 1 0 0 1
Chronic infantile neurological, cutaneous and articular syndrome 0 0 1 0 1
Ciliary dyskinesia, primary, 49, without situs inversus 0 1 0 0 1
Clark-Baraitser syndrome 0 0 1 0 1
Classic homocystinuria 0 0 1 0 1
Cobalamin C disease 1 0 0 0 1
Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progeroid syndrome 0 0 1 0 1
Complex cortical dysplasia with other brain malformations 1 0 1 0 0 1
Complex neurodevelopmental disorder 0 1 0 0 1
Congenital fibrosis of extraocular muscles type 1 1 0 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 0 1 0 1
Congenital myopathy 0 1 0 0 1
Congenital stationary night blindness 1A 1 0 0 0 1
Congenital stationary night blindness 2A 1 0 0 0 1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 0 1 0 0 1
Cowden syndrome 1 0 0 1 0 1
Cystic fibrosis 0 0 1 0 1
D-2-hydroxyglutaric aciduria 2 0 0 1 0 1
Deficiency of 2-methylbutyryl-CoA dehydrogenase 0 1 0 0 1
Deficiency of adenosine deaminase 2 0 1 0 0 1
Delpire-McNeill syndrome 0 0 1 0 1
Desmoid disease, hereditary 0 1 0 0 1
Developmental and epileptic encephalopathy 94 1 0 0 0 1
Developmental and epileptic encephalopathy, 13 0 0 1 0 1
Developmental and epileptic encephalopathy, 30 0 0 1 0 1
Developmental and epileptic encephalopathy, 41 0 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 0 1 0 1
Developmental and epileptic encephalopathy, 54 1 0 0 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 0 0 1 0 1
Developmental delay with variable intellectual disability and dysmorphic facies 0 0 1 0 1
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 0 0 1 0 1
Dias-Logan syndrome 0 0 1 0 1
Diets-Jongmans syndrome 0 0 1 0 1
Dihydropyrimidine dehydrogenase deficiency 0 1 0 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 1 0 0 0 1
Donnai-Barrow syndrome 0 1 0 0 1
Dyskeratosis congenita, autosomal dominant 3 0 0 1 0 1
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 1
Ebstein anomaly 0 0 1 0 1
Ehlers-Danlos syndrome, arthrochalasia type 0 0 1 0 1
Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q 0 0 1 0 1
Epidermolytic hyperkeratosis 1 0 0 1 0 1
Epidermolytic hyperkeratosis 2A, autosomal dominant 1 0 0 0 1
Epilepsy, familial focal, with variable foci 1 0 0 1 0 1
Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 0 1 0 0 1
Exostoses, multiple, type 1 1 0 0 0 1
Familial acute necrotizing encephalopathy 0 0 1 0 1
Familial partial lipodystrophy, Dunnigan type 0 0 1 0 1
Familial thoracic aortic aneurysm and aortic dissection 0 1 0 0 1
Feingold syndrome type 1 0 1 0 0 1
Focal segmental glomerulosclerosis 8 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 0 1 0 1
Growth hormone insensitivity syndrome with immune dysregulation 0 0 1 0 1
Hemochromatosis type 1 1 0 0 0 1
Hemolytic uremic syndrome with DGKE deficiency 0 0 1 0 1
Hepatic steatosis 0 0 0 1 1
Hereditary attention deficit-hyperactivity disorder 0 0 1 0 1
Hereditary coproporphyria 0 1 0 0 1
Hereditary factor XI deficiency disease 1 0 0 0 1
Hereditary hemorrhagic telangiectasia 0 0 1 0 1
Hereditary spastic paraplegia 11 1 0 0 0 1
Hogue-Janssens syndrome 1 0 1 0 0 1
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 0 1
Holt-Oram syndrome 0 1 0 0 1
Hurler syndrome 1 0 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus 0 0 1 0 1
Hyperlipoproteinemia, type I 0 0 1 0 1
Hypertrophic cardiomyopathy 1 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1; Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 1
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 0 0 1 0 1
ITSN1-related neurodevelopmental disorders 0 0 1 0 1
Ichthyosis 0 0 1 0 1
Immunodeficiency 95 0 0 1 0 1
Infantile nephronophthisis 0 0 1 0 1
Inherited neurodegenerative disorder 0 0 1 0 1
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia 0 1 0 0 1
Intellectual developmental disorder, X-linked 111 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 67 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 68 0 0 1 0 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 0 1
Intellectual disability, X-linked 96 0 0 1 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 1
Intellectual disability, autosomal dominant 5 0 0 1 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 1
Intellectual disability, autosomal dominant 57 0 0 1 0 1
Intellectual disability, autosomal dominant 9 0 0 1 0 1
Intellectual disability, autosomal recessive 65 0 1 0 0 1
KRIT1-related disorder 0 0 1 0 1
LIPE-related familial partial lipodystrophy 0 0 1 0 1
Leber congenital amaurosis 9 0 1 0 0 1
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 1 0 0 0 1
Lewy body dementia; Parkinson disease, late-onset 0 1 0 0 1
Linear nevus sebaceous syndrome 1 0 0 0 1
Loeys-Dietz syndrome 1 0 0 1 0 1
Long QT syndrome 0 0 1 0 1
Lymphatic malformation 13 0 0 1 0 1
Macrocephaly, dysmorphic facies, and psychomotor retardation 0 1 0 0 1
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 0 1 0 0 1
Mandibulofacial dysostosis-microcephaly syndrome 0 1 0 0 1
Marshall syndrome; Stickler syndrome type 2 0 1 0 0 1
Maturity-onset diabetes of the young type 1 0 1 0 0 1
Maturity-onset diabetes of the young type 2 0 1 0 0 1
Maturity-onset diabetes of the young type 3 0 0 1 0 1
Maturity-onset diabetes of the young type 8 0 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 0 0 1 0 1
Metaphyseal chondrodysplasia, Schmid type 0 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 0 1 0 1
Mucopolysaccharidosis, MPS-III-B 0 1 0 0 1
Mullegama-Klein-Martinez syndrome 0 0 1 0 1
Multiple cutaneous and mucosal venous malformations; Glaucoma 3, primary congenital, E 0 0 1 0 1
Myofibrillar myopathy 5 1 0 0 0 1
Nephrotic syndrome, type 13 0 0 1 0 1
Nephrotic syndrome, type 3 0 0 1 0 1
Neurodevelopmental disorder with central hypotonia and dysmorphic facies 0 0 1 0 1
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum 0 0 1 0 1
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, seizures, and absent language 0 0 1 0 1
Neurodevelopmental disorder with language delay and variable cognitive abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly and dysmorphic facies 0 0 1 0 1
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1
Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 0 0 1 0 1
Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59 0 0 1 0 1
Neurodevelopmental, jaw, eye, and digital syndrome 0 0 1 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 10 0 1 0 0 1
Noonan syndrome 2 0 0 1 0 1
Noonan syndrome 4 0 0 1 0 1
Noonan syndrome 9 0 0 1 0 1
Nystagmus 1, congenital, X-linked 0 1 0 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 1
Odonto-onycho-dermal dysplasia 0 0 1 0 1
Ogden syndrome 0 1 0 0 1
Oto-palato-digital syndrome, type I; Oto-palato-digital syndrome, type II 0 0 1 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 0 0 1 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 1
PIK3CA-related disorder 0 0 1 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 1
PPP1R3F Associated Neurodevelopmental Disorder 0 0 1 0 1
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 1 0 0 0 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 0 1 0 1
Periventricular nodular heterotopia 9 0 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 1 0 0 0 1
Pfeiffer syndrome type 1 0 0 1 0 1
Phelan-McDermid syndrome 1 0 0 0 1
Pheochromocytoma; Familial medullary thyroid carcinoma 0 1 0 0 1
Pierpont syndrome; Intellectual disability, autosomal dominant 41 0 1 0 0 1
Pilarowski-Bjornsson syndrome 0 0 1 0 1
Pityriasis rubra pilaris; Psoriasis 2 0 0 1 0 1
Polycystic kidney disease, adult type 0 0 1 0 1
Primary ciliary dyskinesia 7 0 0 1 0 1
Primrose syndrome 0 0 1 0 1
Progressive myoclonic epilepsy type 7 0 0 1 0 1
Proteinuria, chronic benign 0 0 1 0 1
Proteus syndrome 1 0 0 0 1
Pseudohypoparathyroidism type 1B 0 0 1 0 1
Pseudohypoparathyroidism type I A 0 0 1 0 1
Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pseudohypoparathyroidism type I A 0 0 1 0 1
Pyogenic granuloma 0 1 0 0 1
Rhabdomyolysis, susceptibility to, 1 0 0 1 0 1
Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome 1 0 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 1 0 0 1
SYNGAP1-related developmental and epileptic encephalopathy 0 0 1 0 1
Schaaf-Yang syndrome 0 1 0 0 1
Schuurs-Hoeijmakers syndrome 0 0 1 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 0 1
Short stature with nonspecific skeletal abnormalities 0 0 1 0 1
Short stature-pituitary and cerebellar defects-small sella turcica syndrome 0 0 1 0 1
Snijders Blok-Campeau syndrome 0 0 1 0 1
Sotos syndrome 0 0 1 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 0 1 0 0 1
Spermatogenic failure 46 0 0 1 0 1
Spinocerebellar ataxia type 29 0 0 1 0 1
Stickler syndrome, type 5 1 0 0 0 1
Systemic lupus erythematosus 0 0 1 0 1
Townes-Brocks syndrome 1 0 0 1 0 1
Tuberous sclerosis syndrome 0 0 1 0 1
Tumor predisposition syndrome 3 0 1 0 0 1
Turnpenny-fry syndrome 0 0 1 0 1
Type 2 diabetes mellitus 0 0 1 0 1
Unverricht-Lundborg syndrome 1 0 0 0 1
Van Maldergem syndrome 1; Mitral valve prolapse, myxomatous 2 0 0 1 0 1
Venous malformation 1 0 0 0 1
Verrucous venous malformation 0 1 0 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 0 1 0 1
Weiss-Kruszka syndrome 0 0 1 0 1
Wolfram syndrome 1 0 1 0 0 1
X-linked Alport syndrome 0 0 1 0 1
X-linked Opitz G/BBB syndrome 1 0 0 0 1
X-linked intellectual disability 0 0 1 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 1
Xeroderma pigmentosum, group F 0 1 0 0 1
ZTTK syndrome 0 0 1 0 1

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