ClinVar Miner

Variants from HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Location: United States — Primary collection method: research
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 total
297 140 174 19 0 629

Gene and significance breakdown #

Total genes and gene combinations: 360
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
BRCA2 14 1 0 0 15
BRCA1 9 0 0 0 9
CHD7 7 0 1 0 8
KCNQ1 6 2 0 0 8
CFTR 5 1 0 0 6
MUTYH 5 1 0 0 6
MYBPC3 5 1 0 0 6
PKP2 6 0 0 0 6
TCF4 4 1 1 0 6
CREBBP 1 4 0 0 5
MTOR 3 0 2 0 5
PTPN11 2 2 0 1 5
SLC2A1 1 2 2 0 5
ANKRD11 3 1 0 0 4
ARID1B 4 0 0 0 4
BRSK2 1 2 1 0 4
CACNA1A 1 2 1 0 4
HEXA 4 0 0 0 4
KMT2D 3 0 1 0 4
LDLR 3 1 0 0 4
LOC102724058, SCN1A 3 0 0 1 4
MYH7 2 1 1 0 4
PMM2 0 3 1 0 4
PMS2 4 0 0 0 4
RYR1 3 1 0 0 4
SCN8A 1 1 2 0 4
ALDH18A1 0 0 3 0 3
ARX 1 0 1 1 3
ATRX 1 0 2 0 3
BARD1 2 1 0 0 3
EBF3 3 0 0 0 3
FOXG1 2 1 0 0 3
GRIN2B 1 2 0 0 3
HBB, LOC106099062, LOC107133510 3 0 0 0 3
ITPR1 1 0 2 0 3
KCNQ2 3 0 0 0 3
MECP2 3 0 0 0 3
MED13L 3 0 0 0 3
MLH1 3 0 0 0 3
MMUT 1 0 2 0 3
MSH6 2 1 0 0 3
SCN2A 2 1 0 0 3
SCN5A 1 2 0 0 3
SLC22A5 3 0 0 0 3
SPG11 3 0 0 0 3
ULK4 0 0 0 3 3
WDR26 0 2 1 0 3
ZEB2 2 1 0 0 3
ACAN 0 0 2 0 2
ACTN1 1 1 0 0 2
ADA2 2 0 0 0 2
ADNP 2 0 0 0 2
AHI1 0 1 1 0 2
ALG1 0 2 0 0 2
ANK2 0 1 1 0 2
AP4B1 1 0 1 0 2
ASPM 0 0 0 2 2
ASXL3 1 0 1 0 2
ATP7B 0 2 0 0 2
BPTF 1 0 1 0 2
BRPF1 0 2 0 0 2
C2CD3 0 0 2 0 2
CACNA1E 0 0 2 0 2
CAPN3 0 1 1 0 2
CBL 0 1 1 0 2
CEP120 0 1 1 0 2
CFTR, LOC111674475 2 0 0 0 2
CHAT 0 0 2 0 2
CHD2 2 0 0 0 2
CLCN1 1 1 0 0 2
CLPB 2 0 0 0 2
COASY 0 1 1 0 2
COL2A1 1 1 0 0 2
COL9A3 0 1 1 0 2
CTNND2 0 0 2 0 2
DCHS1 0 0 0 2 2
DDX3X 2 0 0 0 2
DENND5A 0 2 0 0 2
DHCR24 0 0 2 0 2
DHCR7 2 0 0 0 2
DNHD1, RRP8 0 0 2 0 2
DNMT3A 0 1 1 0 2
DSG2 1 1 0 0 2
DYNC1H1 2 0 0 0 2
DYRK1A 2 0 0 0 2
EHMT1 1 1 0 0 2
EP300 1 1 0 0 2
EVC 1 1 0 0 2
FBN1 1 0 1 0 2
FYCO1 2 0 0 0 2
GLA, RPL36A-HNRNPH2 2 0 0 0 2
GLB1 2 0 0 0 2
GLI3 1 0 1 0 2
GMPPB 2 0 0 0 2
GRIA3 0 0 0 2 2
HCFC1 1 0 1 0 2
HDAC8 1 1 0 0 2
HNRNPK 0 2 0 0 2
HUWE1 0 1 1 0 2
IARS1 0 0 2 0 2
INVS 0 2 0 0 2
KCNT1 0 0 0 2 2
KDM5B 0 0 2 0 2
KIF1A 2 0 0 0 2
KLHL40 0 1 1 0 2
LOC100289580, PIEZO1 1 0 1 0 2
MAGEL2 2 0 0 0 2
MAST1 0 1 1 0 2
MME 0 0 2 0 2
MSH2 2 0 0 0 2
MYH6 0 0 2 0 2
NAA15 2 0 0 0 2
NBEA 0 2 0 0 2
NEB 0 1 1 0 2
NF1 1 0 1 0 2
NOTCH2 2 0 0 0 2
NRXN1 0 0 0 2 2
OCA2 2 0 0 0 2
PCNX2 0 0 2 0 2
PDHA1 0 1 1 0 2
PIGO 0 1 1 0 2
PLEC 0 0 2 0 2
POMT1 0 1 1 0 2
PPA2 1 1 0 0 2
PREX2 0 0 2 0 2
PTEN 1 0 1 0 2
PUF60 2 0 0 0 2
PURA 0 1 1 0 2
RALA 1 0 1 0 2
RASGRF1 0 0 2 0 2
RET 1 1 0 0 2
SATB2 2 0 0 0 2
SHANK3 1 0 1 0 2
SLC1A4 2 0 0 0 2
SLC25A1 1 1 0 0 2
SLC26A4 1 1 0 0 2
SMARCA2 1 1 0 0 2
SNX14 2 0 0 0 2
SPR 1 0 1 0 2
SYNGAP1 1 0 1 0 2
TELO2 1 1 0 0 2
TFAP2A 1 1 0 0 2
THBS3 0 0 2 0 2
TMEM260 0 1 1 0 2
TP63 0 2 0 0 2
TPP1 2 0 0 0 2
TRAPPC9 0 0 2 0 2
TTC37 0 1 1 0 2
TTC7A 0 2 0 0 2
UBE3B 2 0 0 0 2
UNC80 0 2 0 0 2
WARS2 0 2 0 0 2
WDFY3 0 0 2 0 2
WDR45 1 1 0 0 2
XRCC4 0 0 2 0 2
ZBTB18 0 2 0 0 2
ZMIZ1 1 1 0 0 2
AARS1 0 0 1 0 1
ACTC1, LOC101928174 0 1 0 0 1
ACTG1 0 0 1 0 1
ACTL6B 1 0 0 0 1
AFDN 0 0 1 0 1
AFF3 1 0 0 0 1
AHDC1 1 0 0 0 1
AKAP6 0 0 1 0 1
ANKRD17 0 0 1 0 1
ANOS1 0 0 1 0 1
APC 1 0 0 0 1
APOB 1 0 0 0 1
ARF1 0 1 0 0 1
ARF6 0 0 1 0 1
ARFGEF1 0 0 1 0 1
ARID1A 1 0 0 0 1
ARID2 1 0 0 0 1
ASXL1 1 0 0 0 1
ATP7A 0 0 1 0 1
ATPAF2 0 0 1 0 1
AUTS2 0 1 0 0 1
BAZ2B 0 0 1 0 1
BCL2L2-PABPN1, PABPN1 0 1 0 0 1
BICD2 0 1 0 0 1
BMP2 0 1 0 0 1
BMPR1B 0 1 0 0 1
BRAF 1 0 0 0 1
CAMTA1 0 0 1 0 1
CASK 1 0 0 0 1
CDK13 1 0 0 0 1
CDKL5 0 1 0 0 1
CELSR1 0 0 1 0 1
CHD3 0 0 1 0 1
CHD4 0 1 0 0 1
CHEK2 0 0 1 0 1
CIZ1, DNM1 1 0 0 0 1
CLCNKB 1 0 0 0 1
CLCNKB, LOC106501713 0 0 1 0 1
CLTC 0 0 1 0 1
CNOT1 0 0 1 0 1
COL1A1 1 0 0 0 1
COL6A3 0 0 1 0 1
COL7A1 1 0 0 0 1
CSMD1 0 0 0 1 1
CSNK2B 0 1 0 0 1
CSTB 1 0 0 0 1
CTR9 0 0 1 0 1
CTSA 0 0 0 1 1
CUL4B 0 0 1 0 1
CYFIP2 1 0 0 0 1
CYP11A1 1 0 0 0 1
DDX41 1 0 0 0 1
DEAF1 1 0 0 0 1
DHX30 1 0 0 0 1
DLG3 0 1 0 0 1
DNAJC28 0 0 1 0 1
EFTUD2 0 1 0 0 1
EZH1 0 0 1 0 1
FBLN5 0 1 0 0 1
FBXO11 0 1 0 0 1
FER 0 0 1 0 1
FGF12 1 0 0 0 1
FGFR2 0 0 1 0 1
FOXP4 0 0 1 0 1
FUCA1 1 0 0 0 1
GABRA1 0 0 1 0 1
GATA6 1 0 0 0 1
GH-LCR, SCN4A 1 0 0 0 1
GJB2 1 0 0 0 1
GNAO1 0 0 1 0 1
GRIK4 0 1 0 0 1
GRIK4, LOC101929208 0 1 0 0 1
GRIN1 0 1 0 0 1
GRIN2A 0 1 0 0 1
GRIN2D 0 0 1 0 1
GRIPAP1 0 0 0 1 1
H3-3A 0 0 1 0 1
HARS1 1 0 0 0 1
HECTD4 0 0 1 0 1
HNF4A 0 0 1 0 1
HNRNPU 0 1 0 0 1
HNRNPUL2, HNRNPUL2-BSCL2 0 0 1 0 1
IFIH1 0 1 0 0 1
IQGAP1 0 0 1 0 1
IQSEC2 1 0 1 0 1
IRAK1BP1, PHIP 1 0 0 0 1
JMJD1C 0 0 1 0 1
KAT2B 0 0 1 0 1
KCNH2 0 1 0 0 1
KCNMA1 0 1 0 0 1
KCNQ3 1 0 0 0 1
KDM1A 0 0 1 0 1
KDM5C 1 0 0 0 1
KDM6A 0 1 0 0 1
KIDINS220 1 0 0 0 1
KLHL15 0 0 1 0 1
KMT2A 1 0 0 0 1
KMT2A, LOC101929089 0 0 1 0 1
KMT2C 0 1 0 0 1
KMT5B 0 1 0 0 1
KRIT1 0 1 0 0 1
L1CAM 1 0 0 0 1
LAMA2 0 1 0 0 1
MACF1 0 0 1 0 1
MAP3K7 0 0 1 0 1
MAPK8IP3 0 0 1 0 1
MC4R 1 0 0 0 1
MEA1, PPP2R5D 1 0 0 0 1
MED12 0 1 0 0 1
MED12L 0 0 1 0 1
MED13 1 0 0 0 1
MEF2C 1 0 0 0 1
MFF 1 0 0 0 1
MFN2 1 0 0 0 1
MID1 0 0 1 0 1
MID2 0 0 1 0 1
MMP2 0 0 1 0 1
MSC, TRPA1 0 0 1 0 1
MYRF 0 1 0 0 1
MYT1L 0 1 0 0 1
NALCN 0 0 1 0 1
NDP 1 0 0 0 1
NET1 0 0 1 0 1
NEXMIF 1 0 0 0 1
NOG 1 0 0 0 1
NTRK2 1 0 0 0 1
OCRL 1 0 0 0 1
OPHN1 0 1 0 0 1
PACS1 1 0 0 0 1
PAK3 0 0 1 0 1
PALB2 1 0 0 0 1
PAX5 0 0 1 0 1
PAX6 1 0 0 0 1
PEX26 1 0 0 0 1
PHF6 1 0 0 0 1
PHIP 0 1 0 0 1
PIAS3 0 0 1 0 1
PIGA 0 1 0 0 1
PKD2 1 0 0 0 1
POGZ 0 1 0 0 1
POLR2A 0 0 1 0 1
PPP2R1A 0 1 0 0 1
PRF1 1 0 0 0 1
PRKAG2 1 0 0 0 1
PRRT2 1 0 0 0 1
PTBP1 0 0 1 0 1
PTPRU 0 0 1 0 1
RAC1 0 0 1 0 1
RAF1 0 1 0 0 1
RERE 0 0 1 0 1
RFXANK 0 1 0 0 1
RHOA 0 0 1 0 1
RIT1 1 0 0 0 1
ROCK2 0 0 1 0 1
RORB 0 1 0 0 1
RPH3A 0 0 1 0 1
RUFY3 0 0 1 0 1
SALL4 1 0 0 0 1
SCN1A 1 0 0 0 1
SDHA 1 0 0 0 1
SDHB 1 0 0 0 1
SETD5 0 0 1 0 1
SGTA 0 0 1 0 1
SHANK2 1 0 0 0 1
SHH 1 0 0 0 1
SHOC2 1 0 0 0 1
SLC4A1 1 0 0 0 1
SLC6A1 0 0 1 0 1
SMARCA4 1 0 0 0 1
SMC1A 0 0 1 0 1
SMC3 0 1 0 0 1
SOGA3 0 0 1 0 1
SOX5 1 0 0 0 1
SRCAP 1 0 0 0 1
SSTR5 0 0 1 0 1
STXBP1 1 0 0 0 1
SUZ12 1 0 0 0 1
SYNJ2 0 0 1 0 1
SYT1 0 1 0 0 1
TAPT1 1 0 0 0 1
TBL1XR1 1 0 0 0 1
TBR1 0 1 0 0 1
TBX5 1 0 0 0 1
TCF20 1 0 0 0 1
TLK2 1 0 0 0 1
TMCO1 0 0 1 0 1
TMEM132D 0 0 1 0 1
TOR1A 0 1 0 0 1
TPM3 0 0 1 0 1
TRAF7 0 0 1 0 1
TRIO 1 0 0 0 1
TTPA 0 1 0 0 1
TUBB 1 0 0 0 1
TUBB2B 0 0 1 0 1
WDR44 0 0 1 0 1
YWHAZ 0 0 1 0 1
ZC4H2 1 0 0 0 1
ZDHHC9 0 0 1 0 1
ZMYM2 0 0 1 0 1
ZMYM3 0 0 1 0 1
ZMYND11 1 0 0 0 1
ZNF292 0 0 1 0 1
ZNF462 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 301
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Condition pathogenic likely pathogenic uncertain significance likely benign total
not provided 10 10 35 1 56
not specified 2 5 28 1 36
Breast-ovarian cancer, familial 2 14 1 0 0 15
Breast-ovarian cancer, familial 1 9 0 0 0 9
CHARGE association 8 0 1 0 9
Cystic fibrosis 7 1 0 0 8
Long QT syndrome 1 6 2 0 0 8
Arrhythmogenic right ventricular cardiomyopathy, type 9 6 0 0 0 6
Familial hypertrophic cardiomyopathy 4 5 1 0 0 6
MYH-associated polyposis 5 1 0 0 6
Pitt-Hopkins syndrome 4 1 1 0 6
Noonan syndrome 1 2 2 0 1 5
Severe myoclonic epilepsy in infancy 4 0 0 1 5
Smith-Kingsmore syndrome 3 0 2 0 5
Coffin-Siris syndrome 1 4 0 0 0 4
Congenital disorder of glycosylation, type Ia 0 3 1 0 4
Early infantile epileptic encephalopathy 13 1 1 2 0 4
Familial cancer of breast 2 1 1 0 4
Familial hypercholesterolemia 1 3 1 0 0 4
Familial hypertrophic cardiomyopathy 1 2 1 1 0 4
Hereditary nonpolyposis colorectal cancer type 4 4 0 0 0 4
KBG syndrome 3 1 0 0 4
Kabuki syndrome 1 3 0 1 0 4
Rubinstein-Taybi syndrome 1 1 3 0 0 4
Tay-Sachs disease 4 0 0 0 4
Early infantile epileptic encephalopathy 11 2 1 0 0 3
Early infantile epileptic encephalopathy 7 3 0 0 0 3
Episodic ataxia type 2 1 1 1 0 3
GLUT1 deficiency syndrome 2 0 1 2 0 3
Hereditary nonpolyposis colorectal cancer type 5 2 1 0 0 3
Intellectual disability, moderate 0 0 0 3 3
Long QT syndrome 3 1 2 0 0 3
Lynch syndrome II 3 0 0 0 3
Malignant hyperthermia, susceptibility to, 1 2 1 0 0 3
Mental retardation and distinctive facial features with or without cardiac defects 3 0 0 0 3
Mental retardation-hypotonic facies syndrome X-linked, 1 1 0 2 0 3
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 1 0 2 0 3
Mowat-Wilson syndrome 2 1 0 0 3
Renal carnitine transport defect 3 0 0 0 3
Rett syndrome 3 0 0 0 3
Rett syndrome, congenital variant 2 1 0 0 3
SKRABAN-DEARDORFF SYNDROME 0 2 1 0 3
Spondyloepiphyseal dysplasia, stanescu type 0 1 2 0 3
22q13.3 deletion syndrome 1 0 1 0 2
3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 2 0 0 0 2
AU-KLINE SYNDROME 0 2 0 0 2
Atrial septal defect 3 0 0 2 0 2
Bainbridge-Ropers syndrome 1 0 1 0 2
Bartter syndrome type 3 1 0 1 0 2
Branchiooculofacial syndrome 1 1 0 0 2
Cataract, autosomal recessive congenital 2 2 0 0 0 2
Ceroid lipofuscinosis neuronal 2 2 0 0 0 2
Charcot-Marie-Tooth disease, axonal type 2X 2 0 0 0 2
Charcot-Marie-Tooth disease, axonal, type 2T 0 0 2 0 2
Chromosome 2q32-q33 deletion syndrome 2 0 0 0 2
Combined d-2- and l-2-hydroxyglutaric aciduria 1 1 0 0 2
Congenital disorder of glycosylation type 1K 0 2 0 0 2
Congenital myotonia, autosomal dominant form 1 1 0 0 2
Cornelia de Lange syndrome 5 1 1 0 0 2
Desmosterolosis 0 0 2 0 2
Dilated cardiomyopathy 1BB 1 1 0 0 2
Early infantile epileptic encephalopathy 14 0 0 0 2 2
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 0 2 0 0 2
Ellis-van Creveld syndrome 1 1 0 0 2
Epileptic encephalopathy, childhood-onset 2 0 0 0 2
Epileptic encephalopathy, early infantile, 1 1 0 1 0 2
Epileptic encephalopathy, early infantile, 49 0 2 0 0 2
Fabry disease 2 0 0 0 2
Familial infantile myasthenia 0 0 2 0 2
Familial medullary thyroid carcinoma 1 1 0 0 2
GLUT1 deficiency syndrome 1 1 1 0 0 2
GM1 gangliosidosis type 2 2 0 0 0 2
Greig cephalopolysyndactyly syndrome 1 0 1 0 2
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 0 0 2 0 2
Hajdu-Cheney syndrome 2 0 0 0 2
Helsmoortel-Van der Aa Syndrome 2 0 0 0 2
Hyperphosphatasia with mental retardation syndrome 2 0 1 1 0 2
Hypotonia, ataxia, and delayed development syndrome 2 0 0 0 2
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 2 0 0 2
Infantile nephronophthisis 0 2 0 0 2
Intellectual developmental disorder with dysmorphic facies and ptosis 0 2 0 0 2
Joubert syndrome 3 0 1 1 0 2
Kaufman oculocerebrofacial syndrome 2 0 0 0 2
Kleefstra syndrome 1 1 1 0 0 2
Limb-girdle muscular dystrophy, type 2A 0 1 1 0 2
Limb-girdle muscular dystrophy, type 2Q 0 0 2 0 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 0 1 1 0 2
Lymphedema, hereditary, III 1 0 1 0 2
Lynch syndrome I 2 0 0 0 2
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 2 0 0 0 2
Marfan syndrome 1 0 1 0 2
Mental retardation 3, X-linked 1 0 1 0 2
Mental retardation, X-linked 102 2 0 0 0 2
Mental retardation, X-linked, syndromic, Turner type 0 1 1 0 2
Mental retardation, X-linked, syndromic, wu type 0 0 0 2 2
Mental retardation, autosomal dominant 22 0 2 0 0 2
Mental retardation, autosomal dominant 31 0 1 1 0 2
Mental retardation, autosomal dominant 5 1 0 1 0 2
Mental retardation, autosomal dominant 7 2 0 0 0 2
Mental retardation, autosomal dominant 9 2 0 0 0 2
Mental retardation, autosomal recessive 13 0 0 2 0 2
Multiple epiphyseal dysplasia 3 0 1 1 0 2
Multiple gastrointestinal atresias 0 2 0 0 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 2 0 0 0 2
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES 1 0 1 0 2
Nemaline myopathy 2 0 1 1 0 2
Nemaline myopathy 8 0 1 1 0 2
Neurodegeneration with brain iron accumulation 5 1 1 0 0 2
Neurodegeneration with brain iron accumulation 6 0 1 1 0 2
Neurofibromatosis, type 1 1 0 1 0 2
Nicolaides-Baraitser syndrome 1 1 0 0 2
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 0 1 1 0 2
Orofaciodigital syndrome xiv 0 0 2 0 2
Pendred syndrome 1 1 0 0 2
Pitt-Hopkins-like syndrome 2 0 0 0 2 2
Platelet-type bleeding disorder 15 1 1 0 0 2
Primary autosomal recessive microcephaly 5 0 0 0 2 2
Pyruvate dehydrogenase E1-alpha deficiency 0 1 1 0 2
Rubinstein-Taybi syndrome 2 1 1 0 0 2
Schaaf-yang syndrome 2 0 0 0 2
Short stature, microcephaly, and endocrine dysfunction 0 0 2 0 2
Short-rib thoracic dysplasia 13 with or without polydactyly 0 1 1 0 2
Smith-Lemli-Opitz syndrome 2 0 0 0 2
Spastic paraplegia 11, autosomal recessive 2 0 0 0 2
Spastic paraplegia 47, autosomal recessive 1 0 1 0 2
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 2 0 0 0 2
Spinocerebellar ataxia 15 1 0 1 0 2
Spinocerebellar ataxia, autosomal recessive 20 2 0 0 0 2
Spondyloepimetaphyseal dysplasia, Aggrecan type 0 0 2 0 2
Structural heart defects and renal anomalies syndrome 0 1 1 0 2
Sudden cardiac failure, infantile 1 1 0 0 2
Tatton-Brown-rahman syndrome 0 1 1 0 2
Trichohepatoenteric syndrome 1 0 1 1 0 2
Tyrosinase-positive oculocutaneous albinism 2 0 0 0 2
Van Maldergem syndrome 1 0 0 0 2 2
Verheij syndrome 2 0 0 0 2
Wiedemann-Steiner syndrome 1 0 1 0 2
Wilson disease 0 2 0 0 2
You-Hoover-Fong syndrome 1 1 0 0 2
beta Thalassemia 2 0 0 0 2
Acrocephalosyndactyly type I 0 0 1 0 1
Acromesomelic dysplasia, Demirhan type 0 1 0 0 1
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete 1 0 0 0 1
Age-related macular degeneration 3 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 1 0 0 1
Aniridia 1 1 0 0 0 1
Ataxia with vitamin E deficiency 0 1 0 0 1
Atrophia bulborum hereditaria 1 0 0 0 1
Autism 17 1 0 0 0 1
Baraitser-Winter Syndrome 2 0 0 1 0 1
Bare lymphocyte syndrome 2 0 1 0 0 1
Benign familial neonatal seizures 2 1 0 0 0 1
Bethlem myopathy 1 0 0 1 0 1
Borjeson-Forssman-Lehmann syndrome 1 0 0 0 1
C-like syndrome 1 0 0 0 1
CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY 0 0 1 0 1
CHUNG-JANSEN SYNDROME 0 1 0 0 1
Cardiac arrhythmia, ankyrin B-related 0 1 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Cardiospondylocarpofacial syndrome 0 0 1 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 1 0 1
Cerebral cavernous malformation 0 1 0 0 1
Charcot-Marie-Tooth disease, axonal, type 2w 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2A2A 1 0 0 0 1
Charcot-Marie-Tooth disease, type 2N 0 0 1 0 1
Cleft palate, psychomotor retardation, and distinctive facial features 0 0 1 0 1
Combined deficiency of sialidase AND beta galactosidase 0 0 0 1 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 0 1 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 1 0 0 0 1
Congenital muscular hypertrophy-cerebral syndrome 0 0 1 0 1
Cornelia de Lange syndrome 3 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 6 1 0 0 0 1
Cowden syndrome 1 1 0 0 0 1
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 0 0 1 0 1
Deafness, autosomal recessive 1A 1 0 0 0 1
Dent disease 2 1 0 0 0 1
Dilated cardiomyopathy 1R 0 1 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 1 0 0 0 1
Duane-radial ray syndrome 1 0 0 0 1
Dystonia 1 0 1 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 1 0 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65 1 0 0 0 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 0 0 1 0 1
Early infantile epileptic encephalopathy 2 0 1 0 0 1
Early infantile epileptic encephalopathy 4 1 0 0 0 1
Encephalopathy due to defective mitochondrial and peroxisomal fission 2 1 0 0 0 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 0 1 0 0 1
Epileptic encephalopathy, early infantile, 19 0 0 1 0 1
Epileptic encephalopathy, early infantile, 27 1 0 0 0 1
Epileptic encephalopathy, early infantile, 31 1 0 0 0 1
Epileptic encephalopathy, early infantile, 42 0 1 0 0 1
Epileptic encephalopathy, early infantile, 46 0 0 1 0 1
Epileptic encephalopathy, early infantile, 47 1 0 0 0 1
Epileptic encephalopathy, early infantile, 54 0 1 0 0 1
FG syndrome 1 0 1 0 0 1
Familial adenomatous polyposis 1 1 0 0 0 1
Familial episodic pain syndrome 1 0 0 1 0 1
Familial hypercholesterolemia 2 1 0 0 0 1
Fanconi anemia, complementation group N 1 0 0 0 1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 0 0 1 0 1
Floating-Harbor syndrome 1 0 0 0 1
Fucosidosis 1 0 0 0 1
Generalized epilepsy and paroxysmal dyskinesia 0 1 0 0 1
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 0 1 0 0 1
Hb SS disease 1 0 0 0 1
Hemophagocytic lymphohistiocytosis, familial, 2 1 0 0 0 1
Holoprosencephaly 3 1 0 0 0 1
Holt-Oram syndrome 1 0 0 0 1
Hypobetalipoproteinemia, familial, 1 1 0 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 0 1 0 0 1
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 1 0 0 0 1
Infantile convulsions and paroxysmal choreoathetosis, familial 1 0 0 0 1
Kabuki syndrome 2 0 1 0 0 1
Kallmann syndrome 1 0 0 1 0 1
Kleefstra syndrome 2 0 1 0 0 1
Lamb-shaffer syndrome 1 0 0 0 1
Leukemia, acute lymphoblastic, susceptibility to, 3 0 0 1 0 1
Long QT syndrome 2 0 1 0 0 1
MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS 0 0 1 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 0 0 1 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 0 0 1 0 1
MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 1 0 0 0 1
Macrocephaly/autism syndrome 0 0 1 0 1
Menke-Hennekam syndrome 1 0 1 0 0 1
Menkes kinky-hair syndrome 0 0 1 0 1
Mental retardation 30, X-linked 0 0 1 0 1
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance 0 1 0 0 1
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 0 0 0 1
Mental retardation, X-linked 1 0 0 1 0 1
Mental retardation, X-linked 101 0 0 1 0 1
Mental retardation, X-linked 103 0 0 1 0 1
Mental retardation, X-linked 98 1 0 0 0 1
Mental retardation, X-linked, syndromic, Raymond type 0 0 1 0 1
Mental retardation, autosomal dominant 13 1 0 0 0 1
Mental retardation, autosomal dominant 14 1 0 0 0 1
Mental retardation, autosomal dominant 16 1 0 0 0 1
Mental retardation, autosomal dominant 23 0 0 1 0 1
Mental retardation, autosomal dominant 24 1 0 0 0 1
Mental retardation, autosomal dominant 26 0 1 0 0 1
Mental retardation, autosomal dominant 30 1 0 0 0 1
Mental retardation, autosomal dominant 35 1 0 0 0 1
Mental retardation, autosomal dominant 36 0 1 0 0 1
Mental retardation, autosomal dominant 39 0 1 0 0 1
Mental retardation, autosomal dominant 44 1 0 0 0 1
Mental retardation, autosomal dominant 6 0 1 0 0 1
Mental retardation, autosomal dominant 6; Epileptic encephalopathy, early infantile, 27 0 1 0 0 1
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations 1 0 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 1 0 0 0 1
Mental retardation, with or without seizures, ARX-related, X-linked 0 0 0 1 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 1
Multicentric osteolysis, nodulosis and arthropathy 0 0 1 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 1 0 0 1
Multiple endocrine neoplasia, type 2a 1 0 0 0 1
Muscular hypotonia; Intellectual disability (severe) 1 0 0 0 1
Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to 1 0 0 0 1
Myoclonic-atonic epilepsy 0 0 1 0 1
Myopathy, Central Core 1 0 0 0 1
Nemaline myopathy 1 0 0 1 0 1
Neurodevelopmental disorder with involuntary movements 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 0 1
Noonan syndrome 5 0 1 0 0 1
Noonan syndrome 8 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 1
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 0 0 1 0 1
Obesity 1 0 0 0 1
Oculopharyngeal muscular dystrophy 0 1 0 0 1
Opitz GBBB syndrome, type I 0 0 1 0 1
Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type 1 0 0 0 1
Osteogenesis imperfecta type III 1 0 0 0 1
PERIVENTRICULAR NODULAR HETEROTOPIA 8 0 1 0 0 1
Pancreatic agenesis and congenital heart disease 1 0 0 0 1
Paragangliomas 4 1 0 0 0 1
Paragangliomas 5 1 0 0 0 1
Paramyotonia congenita of von Eulenburg 1 0 0 0 1
Peroxisome biogenesis disorder 7A 1 0 0 0 1
Pierpont syndrome 1 0 0 0 1
Polycystic kidney disease 2 1 0 0 0 1
Polymicrogyria, asymmetric 0 0 1 0 1
Recessive dystrophic epidermolysis bullosa 1 0 0 0 1
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 0 1 0 0 1
Schuurs-hoeijmakers syndrome 1 0 0 0 1
Sepiapterin reductase deficiency 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Spastic paraplegia 9 0 0 1 0 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity 1 0 0 0 1
Spherocytosis type 4 1 0 0 0 1
Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant 1 0 0 0 1
Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 0 1 0 0 1
Spinocerebellar ataxia 29 0 0 1 0 1
Stickler syndrome type 1 1 0 0 0 1
Symphalangism-brachydactyly syndrome 1 0 0 0 1
Syndromic X-linked mental retardation, Cabezas type 0 0 1 0 1
Unverricht-Lundborg syndrome 1 0 0 0 1
White-sutton syndrome 0 1 0 0 1
Wieacker Wolff syndrome 1 0 0 0 1
Wolff-Parkinson-White pattern 1 0 0 0 1
X-Linked mental retardation 90 0 1 0 0 1
X-linked hydrocephalus syndrome 1 0 0 0 1
Xia-Gibbs syndrome 1 0 0 0 1

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