ClinVar Miner

Variants from Institute of Immunology and Genetics Kaiserslautern

Location: Germany  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
371 213 282 0 0 866

Gene and significance breakdown #

Total genes and gene combinations: 426
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance total
BRCA2 31 2 8 41
MSH6 14 0 14 28
BRCA1 19 1 5 25
TTN 13 5 2 20
MYBPC3 11 5 2 18
ATM 8 1 7 16
MYH7 6 3 4 13
LDLR 6 4 1 11
ATM, C11orf65 3 0 7 10
BRIP1 3 0 7 10
FLNC 2 0 8 10
MSH2 3 2 4 9
PALB2 4 1 4 9
CHEK2 4 3 1 8
SCN5A 1 4 3 8
CFTR 5 1 1 7
MLH1 4 0 3 7
PMS2 2 1 4 7
RYR1 4 1 2 7
PKD1 2 3 1 6
PTPN11 5 1 0 6
BRCA1, LOC126862571 5 0 0 5
CREBBP 2 1 2 5
DSP 1 1 3 5
LMNA 2 0 3 5
MYH6 0 1 4 5
SCN2A 4 1 0 5
TTR 3 2 0 5
VWF 3 0 2 5
ALPL 3 0 1 4
APOB 2 1 1 4
CCDST, FLG 4 0 0 4
DES 1 2 1 4
RAD51D, RAD51L3-RFFL 2 0 2 4
RYR2 1 0 3 4
STXBP1 2 2 0 4
TNFRSF13B 3 1 0 4
TNNI3 0 2 2 4
ASH1L 0 1 2 3
CHD3 0 1 2 3
CHD8 1 1 1 3
COL1A1 1 0 2 3
EP300 0 2 1 3
F8 0 3 0 3
GH-LCR, SCN4A 0 1 2 3
HNF1A 2 0 1 3
KAT6A 1 1 1 3
KCNH2 1 2 0 3
KCNQ1 0 3 0 3
KMT2D 1 0 2 3
MIB1 1 2 0 3
MORC2 0 2 1 3
NF1 2 1 0 3
NSD1 2 1 0 3
PAH 3 0 0 3
PROS1 1 0 2 3
PTEN 1 1 1 3
SATB2 1 2 0 3
SCN1A 2 1 0 3
SETD5 1 1 1 3
SLC22A5 2 0 1 3
SMARCA2 0 1 2 3
TP53 1 1 1 3
ABCA4 1 1 0 2
ABCB4 1 1 0 2
ADSL 1 0 1 2
ANK1 1 1 0 2
ANO5 2 0 0 2
APC 1 0 1 2
ASPM 2 0 0 2
ATP2B3 0 1 1 2
CACNA1F 0 1 1 2
CDH1 1 0 1 2
CLCN3 0 0 2 2
DDX3X 1 1 0 2
DYNC2H1 0 0 2 2
DYRK1A 1 1 0 2
EHMT1 2 0 0 2
ESPN 0 0 2 2
F11 0 0 2 2
FGFR2 0 2 0 2
FGG 0 2 0 2
FIG4 1 1 0 2
FLNB 0 1 1 2
FOXL2 1 1 0 2
FOXP1 1 1 0 2
G6PD 2 0 0 2
GCK 1 1 0 2
GJB2 2 0 0 2
GNAO1 0 2 0 2
HFE 2 0 0 2
HJV 0 0 2 2
IQSEC2 1 0 1 2
KANSL1 1 0 1 2
KCNQ5 0 2 0 2
L1CAM 0 0 2 2
LOC126861897, MHRT, MYH7 0 0 2 2
LOC126861898, MYH7 2 0 0 2
LOC126862264, MEFV 2 0 0 2
MAP1B 1 1 0 2
MECP2 1 0 1 2
MED13L 0 1 1 2
MEFV 0 1 1 2
MME 1 1 0 2
MYH3 2 0 0 2
MYO5A 0 0 2 2
MYO5B 0 2 0 2
OBSCN 0 2 0 2
OPA1 1 1 0 2
PEX6 2 0 0 2
PGK1 0 0 2 2
PHGDH 2 0 0 2
PKD2 1 1 0 2
PKP2 1 1 0 2
PMP22 0 1 1 2
POGZ 0 1 1 2
POLE 1 0 1 2
PRKN 1 0 1 2
PROC 2 0 0 2
PYGM 2 0 0 2
RAD51C 1 0 1 2
RPGR 2 0 0 2
SALL1 2 0 0 2
SATB1 0 0 2 2
SCN4A 0 0 2 2
SERPINA1 2 0 0 2
SETBP1 1 1 0 2
SGSH 1 1 0 2
SHANK3 2 0 0 2
SLC12A3 0 2 0 2
SLC45A2 0 0 2 2
SON 1 1 0 2
SORD 2 0 0 2
SOX5 1 0 1 2
TNNT2 0 0 2 2
TRIO 1 1 0 2
TRMT5 0 1 1 2
ZMIZ1 1 0 1 2
ZNF292 1 1 0 2
ABCA2 0 0 1 1
ABCA7 1 0 0 1
ABCB7 0 1 0 1
ABCC8 1 0 0 1
ABCD1, PLXNB3 0 1 0 1
ACTA1 0 0 1 1
ACTL6A 0 1 0 1
ACTN2 0 0 1 1
ADAMTS13 0 1 0 1
AGL 0 0 1 1
AGO1 0 1 0 1
ANKRD11 1 0 0 1
ANKRD17 1 0 0 1
AP1G1 1 0 0 1
AP3B2, CPEB1 0 1 0 1
AP4B1 0 0 1 1
AP4S1 1 0 0 1
APOA1 0 0 1 1
AR 1 0 0 1
ARID1B 0 0 1 1
ASXL2 0 1 0 1
ASXL3 1 0 0 1
ATP1A1 0 0 1 1
ATP2B2 1 0 0 1
ATP7B 0 0 1 1
ATRX 1 0 0 1
BCL11A 1 0 0 1
BGN 0 0 1 1
BICD2 0 1 0 1
BPTF 0 0 1 1
BRAT1 0 0 1 1
C6 0 1 0 1
C9 0 1 0 1
CACNA1A 0 0 1 1
CACNA1A, LOC126862864 1 0 0 1
CACNA1G 0 0 1 1
CACNA1I 0 0 1 1
CACNA1S 0 0 1 1
CACNB2 0 0 1 1
CALM2 0 0 1 1
CAMK2A 0 0 1 1
CAPN3 1 0 0 1
CASK 1 0 0 1
CAV3, OXTR 1 0 0 1
CBL 0 0 1 1
CBR4, PALLD 0 0 1 1
CC2D2A 0 0 1 1
CDH15 0 0 1 1
CDH2 0 0 1 1
CEP290 1 0 0 1
CETP 1 0 0 1
CFTR, LOC111674472 0 0 1 1
CFTR, LOC111674475 1 0 0 1
CHD2 0 1 0 1
CHD5 0 1 0 1
CHD7 1 0 0 1
CLCN1 1 0 0 1
CLTC 0 0 1 1
CNKSR2 0 1 0 1
CNNM2 0 1 0 1
COL1A2 0 0 1 1
COL2A1 0 1 0 1
COL4A4 0 1 0 1
COL5A1 0 0 1 1
COL5A2 0 0 1 1
CRB1 1 0 0 1
CSNK2B 1 0 0 1
CSRP3 0 1 0 1
CUL3 1 0 0 1
CUX1 1 0 0 1
DCTN5, PALB2 1 0 0 1
DCX 0 1 0 1
DEAF1 0 0 1 1
DHDDS 0 0 1 1
DICER1 1 0 0 1
DLG3 0 0 1 1
DMD 0 0 1 1
DNAI1 1 0 0 1
DNMT1 0 0 1 1
DNMT3A 1 0 0 1
DPP6 0 1 0 1
DSC2 0 0 1 1
DVL1 1 0 0 1
DYNC1H1 0 1 0 1
EBF3 0 0 1 1
EDAR, RANBP2 0 1 0 1
EED 0 1 0 1
EIF3F 1 0 0 1
EMD 1 0 0 1
EYA4 0 1 0 1
F5 0 1 0 1
FANCM 1 0 0 1
FBXO11 0 1 0 1
FGA 1 0 0 1
FGFR1 0 1 0 1
FKBP6 1 0 0 1
FLCN 1 0 0 1
FOXC1, LOC129995601 1 0 0 1
FRMD7 0 1 0 1
FSHR 0 0 1 1
FTSJ1 0 0 1 1
GABRB2 1 0 0 1
GABRB3 1 0 0 1
GAN 1 0 0 1
GBF1 0 0 1 1
GDF5 1 0 0 1
GEMIN5 0 0 1 1
GJB1 0 1 0 1
GLI2 0 1 0 1
GNB1 1 0 0 1
GP1BA 1 0 0 1
GP9 1 0 0 1
GRIA3 0 0 1 1
GRIA4 0 0 1 1
GRIN1 1 0 0 1
GRM7 0 0 1 1
GUCY2D 0 1 0 1
H1-4 0 0 1 1
HBA-LCR, NPRL3 0 1 0 1
HBB, LOC106099062, LOC107133510 1 0 0 1
HCN1 0 1 0 1
HCN4, LOC105370890, LOC126862173 0 0 1 1
HDAC8 0 0 1 1
HGD 1 0 0 1
HIVEP2 0 0 1 1
HRAS, LRRC56 1 0 0 1
HUWE1 0 1 0 1
IGHMBP2 1 0 0 1
IL1RAPL1 0 1 0 1
INSL3 0 1 0 1
IRF2BPL 1 0 0 1
ITGA7 0 1 0 1
JAG1 0 1 0 1
JMJD8, STUB1 0 0 1 1
KAT6B 1 0 0 1
KCNE1 0 1 0 1
KCNN2 1 0 0 1
KCNQ2 0 1 0 1
KCNT1 0 0 1 1
KCNT2 0 0 1 1
KDM3B 0 0 1 1
KDM4B 0 0 1 1
KDM5C 1 0 0 1
KIDINS220 0 0 1 1
KIF11 0 1 0 1
KMT2A 0 1 0 1
KMT2B 0 0 1 1
KMT5B 0 1 0 1
KRAS 1 0 0 1
LDB3 0 0 1 1
LINS1 0 1 0 1
LMNA, LOC129931597 0 1 0 1
LMX1B 0 0 1 1
LOC100287944, POLR3B 0 1 0 1
LOC101927055, TTN 0 1 0 1
LOC102724058, SCN1A 0 1 0 1
LOC107303340, VHL 0 0 1 1
LOC107548112, REN 0 1 0 1
LOC126806068, RYR2 0 0 1 1
LOC126806420, TTN 0 0 1 1
LOC126806424, TTN 1 0 0 1
LOC126860802, ZMYND11 0 0 1 1
LOC126861615, PAH 1 0 0 1
LOC126861896, MYH6 0 0 1 1
LOC129390683, SLC12A6 0 0 1 1
LOC129935026, TBR1 0 1 0 1
LOC130005368, RRAS2 0 1 0 1
LOC130064472, LTBP4 0 1 0 1
LOC340512, ZNF462 0 1 0 1
LZTR1 1 0 0 1
MAGEL2 0 0 1 1
MAOA 0 1 0 1
MC4R 1 0 0 1
MCM9 0 1 0 1
MEA1, PPP2R5D 1 0 0 1
MEIS2 0 0 1 1
MFN2 0 0 1 1
MITF 1 0 0 1
MPZ 0 1 0 1
MTM1 0 0 1 1
MUTYH 1 0 0 1
MVP-DT, PRRT2 1 0 0 1
MYH11 0 0 1 1
MYH11, NDE1 0 0 1 1
MYH9 0 0 1 1
MYL2 0 1 0 1
MYLK 0 0 1 1
MYO6 0 1 0 1
MYOF 0 0 1 1
MYPN 0 0 1 1
NAA15 0 1 0 1
NALCN 0 0 1 1
NEB 0 1 0 1
NEB, RIF1 1 0 0 1
NEUROD2 0 0 1 1
NFIX 0 1 0 1
NFKB2 0 0 1 1
NIPA1 0 0 1 1
NIPBL 0 0 1 1
NISCH 1 0 0 1
NKX2-6 0 1 0 1
NODAL 0 1 0 1
NOTCH3 0 1 0 1
NR2F1 0 1 0 1
NSD2 0 1 0 1
NSDHL 0 0 1 1
OBSL1 0 1 0 1
OTC 1 0 0 1
PAFAH1B1 1 0 0 1
PAK3 0 1 0 1
PALLD 0 0 1 1
PAX6 0 1 0 1
PCSK9 1 0 0 1
PFKM 0 0 1 1
PHIP 0 0 1 1
PKHD1 1 0 0 1
PQBP1 1 0 0 1
PRDM16 0 0 1 1
PTPN23 0 1 0 1
PUF60 0 1 0 1
RAB33B 0 0 1 1
RAF1 1 0 0 1
RBM20 1 0 0 1
RECQL4 1 0 0 1
RHAG 0 0 1 1
RUBCN 1 0 0 1
SCAF4 0 1 0 1
SCN10A 0 1 0 1
SCN11A 0 0 1 1
SCN1A, SCN9A 0 0 1 1
SCN1B 1 0 0 1
SCN2B 0 0 1 1
SETD1A 0 0 1 1
SETD1B 1 0 0 1
SHANK2 1 0 0 1
SLC12A6 0 0 1 1
SLC13A5 1 0 0 1
SLC1A2 0 0 1 1
SLC2A1 0 1 0 1
SLC34A3 0 1 0 1
SLC4A1 1 0 0 1
SLC6A1 0 1 0 1
SLC6A8 0 1 0 1
SLC7A9 0 1 0 1
SLC9A9 0 1 0 1
SMAD2 0 0 1 1
SMAD3 1 0 0 1
SMC1A 1 0 0 1
SOD1 0 1 0 1
SOX4 1 0 0 1
SOX6 0 1 0 1
SPAST 0 1 0 1
SPEG 0 0 1 1
SPEN 1 0 0 1
SPTA1 0 0 1 1
SPTB 1 0 0 1
SPTBN1 0 1 0 1
SPTLC1 0 0 1 1
STUB1 1 0 0 1
SUOX 0 1 0 1
SYNGAP1 1 0 0 1
TAOK1 1 0 0 1
TCF4 1 0 0 1
TEX11 0 1 0 1
THAP1 0 1 0 1
THOC2 0 0 1 1
TMEM151A 0 0 1 1
TNNT3 0 1 0 1
TNRC6B 0 1 0 1
TNXB 1 0 0 1
TPM1 1 0 0 1
TRAF7 0 1 0 1
TRIOBP 0 1 0 1
TRPM3 0 0 1 1
TRPM4 0 0 1 1
TSC1 1 0 0 1
TSEN54 1 0 0 1
TUBB1 0 0 1 1
TUBB4A 1 0 0 1
TUSC3 0 1 0 1
TYR 1 0 0 1
USP9Y 1 0 0 1
VANGL1 0 1 0 1
WBP11 0 0 1 1
WFS1 0 0 1 1
XRCC2 0 0 1 1
YARS1 0 1 0 1

Condition and significance breakdown #

Total conditions: 471
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Breast-ovarian cancer, familial, susceptibility to, 1 73 7 51 131
Lynch syndrome 1 15 1 1 17
Dilated cardiomyopathy 1G 9 5 0 14
Hypertrophic cardiomyopathy 1 6 3 4 13
Hypertrophic cardiomyopathy 4 8 4 0 12
Hypercholesterolemia, familial, 1 6 4 1 11
Lynch syndrome 1; Breast-ovarian cancer, familial, susceptibility to, 1 3 1 6 10
Hypertrophic cardiomyopathy 26 1 0 7 8
Cystic fibrosis 5 1 0 6
Dilated cardiomyopathy 1A 2 1 3 6
Familial cancer of breast 3 0 3 6
Lynch syndrome 5 3 0 3 6
Polycystic kidney disease, adult type 2 3 1 6
Amyloidosis, hereditary systemic 1 3 2 0 5
Brugada syndrome 1 0 4 1 5
Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2 1 2 5
Noonan syndrome 1 4 1 0 5
Adult hypophosphatasia 3 0 1 4
Breast-ovarian cancer, familial, susceptibility to, 2 2 1 1 4
Developmental and epileptic encephalopathy, 4 2 2 0 4
Hypercholesterolemia, autosomal dominant, type B 2 1 1 4
Immunodeficiency, common variable, 2 3 1 0 4
Phenylketonuria 4 0 0 4
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 1 1 3
Autosomal recessive limb-girdle muscular dystrophy type 2J; Early-onset myopathy with fatal cardiomyopathy 3 0 0 3
Catecholaminergic polymorphic ventricular tachycardia 1; Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome 0 0 3 3
Central core myopathy; King Denborough syndrome 1 0 2 3
Chromosome 2q32-q33 deletion syndrome 1 2 0 3
Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation 1 0 2 3
Desmin-related myofibrillar myopathy 1 2 0 3
Developmental and epileptic encephalopathy, 11 3 0 0 3
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14 0 0 3 3
Familial cancer of breast; Ataxia-telangiectasia syndrome 1 1 1 3
Intellectual developmental disorder with autism and macrocephaly 1 1 1 3
Intellectual disability, autosomal dominant 52 0 1 2 3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 1 1 1 3
Left ventricular noncompaction 7 1 2 0 3
Long QT syndrome 1 0 3 0 3
Long QT syndrome 2 1 2 0 3
Maturity-onset diabetes of the young type 3 2 0 1 3
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2 1 0 3
Renal carnitine transport defect 2 0 1 3
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Menke-Hennekam syndrome 2 0 2 1 3
Snijders Blok-Campeau syndrome 0 1 2 3
Sotos syndrome 2 1 0 3
Thrombophilia due to protein S deficiency, autosomal dominant 1 0 2 3
Adenylosuccinate lyase deficiency 1 0 1 2
Alpha-1-antitrypsin deficiency 2 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 2
Aortic aneurysm, familial thoracic 4 0 0 2 2
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 1 0 1 2
Arrhythmogenic right ventricular dysplasia 9 1 1 0 2
Asphyxiating thoracic dystrophy 3 0 0 2 2
Autosomal recessive juvenile Parkinson disease 2 1 0 1 2
Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy 0 1 1 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 28 0 1 1 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 1 2
Catecholaminergic polymorphic ventricular tachycardia 1 1 0 1 2
Central core myopathy; Malignant hyperthermia, susceptibility to, 1 1 1 0 2
Charcot-Marie-Tooth disease axonal type 2T 1 1 0 2
Charcot-Marie-Tooth disease axonal type 2Z 0 2 0 2
Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome 1 1 0 2
Cholestasis, progressive familial intrahepatic, 10 0 2 0 2
Colorectal cancer, susceptibility to, 12 1 0 1 2
Combined oxidative phosphorylation defect type 26 0 1 1 2
Cowden syndrome 1 1 1 0 2
Crouzon syndrome 0 2 0 2
DYRK1A-related intellectual disability syndrome 1 1 0 2
Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements 0 2 0 2
Ehlers-Danlos syndrome, arthrochalasia type 0 0 2 2
Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 1 0 1 2
Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant 1 1 0 2
Familial adenomatous polyposis 1 1 0 1 2
Familial cancer of breast; Fanconi anemia complementation group J 0 0 2 2
Familial hypokalemia-hypomagnesemia 0 2 0 2
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5 1 0 1 2
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 0 0 2 2
Glycogen storage disease, type V 2 0 0 2
Griscelli syndrome type 1 0 0 2 2
Hemochromatosis type 1 2 0 0 2
Hemochromatosis type 2A 0 0 2 2
Hereditary factor VIII deficiency disease 0 2 0 2
Hereditary factor XI deficiency disease 0 0 2 2
Hereditary spherocytosis type 1 1 1 0 2
Hyperkalemic periodic paralysis 0 1 1 2
Hypertrophic cardiomyopathy 14 0 0 2 2
Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1S 1 0 1 2
Hypertrophic cardiomyopathy 1; Myosin storage myopathy; MYH7-related skeletal myopathy 1 0 1 2
Hypertrophic cardiomyopathy 7 0 1 1 2
Hypertrophic cardiomyopathy 9 0 0 2 2
Ichthyosis vulgaris 2 0 0 2
Intellectual developmental disorder, autosomal dominant 64 1 1 0 2
Intellectual disability, X-linked 1 1 0 1 2
Intellectual disability, X-linked 102 1 1 0 2
Intellectual disability, autosomal dominant 29 1 1 0 2
Intellectual disability, autosomal dominant 46 0 2 0 2
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 1 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 1 1 0 2
Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 0 0 2 2
Kleefstra syndrome 1 2 0 0 2
Koolen-de Vries syndrome 1 0 1 2
Lamb-Shaffer syndrome 1 0 1 2
Long QT syndrome 3 1 0 1 2
MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 0 0 2 2
Malignant hyperthermia, susceptibility to, 1 2 0 0 2
Maturity-onset diabetes of the young type 2 1 1 0 2
Microcephaly 5, primary, autosomal recessive 2 0 0 2
Mucopolysaccharidosis, MPS-III-A 1 1 0 2
Nemaline myopathy 2 1 1 0 2
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies 1 0 1 2
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 2 2
Neurofibromatosis, type 1 1 1 0 2
Neuronopathy, distal hereditary motor, autosomal recessive 8 2 0 0 2
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 0 2 2
Oculocutaneous albinism type 4 0 0 2 2
PHGDH deficiency 2 0 0 2
Pancreatic cancer, susceptibility to, 1 0 0 2 2
Periventricular nodular heterotopia 9 1 1 0 2
Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2 2 0 0 2
Phelan-McDermid syndrome 2 0 0 2
Polycystic kidney disease 2 1 1 0 2
Rett syndrome 1 0 1 2
Rubinstein-Taybi syndrome due to CREBBP mutations 2 0 0 2
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 0 2 2
Spinocerebellar ataxia 48 1 0 1 2
Thrombophilia due to protein C deficiency, autosomal dominant 2 0 0 2
Townes-Brocks syndrome 1 2 0 0 2
X-linked progressive cerebellar ataxia 0 1 1 2
ZTTK syndrome 1 1 0 2
von Willebrand disease type 1 1 0 1 2
von Willebrand disease type 2 1 0 1 2
3M syndrome 2 0 1 0 1
46,XX ovarian dysgenesis-short stature syndrome 0 1 0 1
8q24.3 microdeletion syndrome 0 1 0 1
Actin accumulation myopathy 0 0 1 1
Actin accumulation myopathy; Progressive scapulohumeroperoneal distal myopathy; Congenital myopathy 2c, severe infantile, autosomal dominant 0 0 1 1
Adrenoleukodystrophy 0 1 0 1
Agenesis of the corpus callosum with peripheral neuropathy; Charcot-Marie-Tooth disease, axonal, IIa 2II 0 0 1 1
Alagille syndrome due to a JAG1 point mutation 0 1 0 1
Aland island eye disease 0 1 0 1
Aland island eye disease; X-linked cone-rod dystrophy 3 0 0 1 1
Alkaptonuria 1 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 1 0 0 1
Alzheimer disease 9 1 0 0 1
Amyotrophic lateral sclerosis type 1 0 1 0 1
Aneurysm-osteoarthritis syndrome 1 0 0 1
Angioedema, hereditary, 7 0 0 1 1
Aniridia 1; Foveal hypoplasia 1; Isolated optic nerve hypoplasia; Irido-corneo-trabecular dysgenesis; 11p partial monosomy syndrome; Coloboma, ocular, autosomal dominant 0 1 0 1
Aortic aneurysm, familial thoracic 7 0 0 1 1
Arrhythmogenic right ventricular dysplasia 11 0 0 1 1
Arrhythmogenic right ventricular dysplasia 8 0 1 0 1
Arrhythmogenic right ventricular dysplasia 8; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial, 14 0 0 1 1
Arthrogryposis, distal, type 2B2 0 1 0 1
Ataxia-telangiectasia syndrome 1 0 0 1
Atrial fibrillation, familial, 14 0 0 1 1
Autism, susceptibility to, 16 0 1 0 1
Autism, susceptibility to, 17 1 0 0 1
Autosomal dominant Alport syndrome 0 1 0 1
Autosomal dominant Robinow syndrome 2 1 0 0 1
Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 0 0 1 1
Autosomal dominant distal renal tubular acidosis 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 0 1
Autosomal dominant optic atrophy classic form 1 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 1 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 0 0 1 1
Autosomal recessive spinocerebellar ataxia 15 1 0 0 1
Axenfeld-Rieger syndrome type 3 1 0 0 1
BAFopathy 0 1 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 1 0 0 1
Bernard Soulier syndrome 1 0 0 1
Bernard-Soulier syndrome, type A2, autosomal dominant 1 0 0 1
Beta-thalassemia HBB/LCRB 1 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome 1 0 0 1
Blepharophimosis, ptosis, and epicanthus inversus syndrome; Premature ovarian failure 3 0 1 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 1
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 4 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 5 0 0 1 1
Brugada syndrome 1; Long QT syndrome 3 0 0 1 1
Brugada syndrome 1; Long QT syndrome 3; Ventricular fibrillation, paroxysmal familial, type 1 0 1 0 1
Brugada syndrome 4 0 0 1 1
Brunner syndrome 0 1 0 1
CBL-related disorder 0 0 1 1
CHARGE syndrome 1 0 0 1
CHEK2-related cancer predisposition 1 0 0 1
CK syndrome 0 0 1 1
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 0 0 1 1
Cardiac, facial, and digital anomalies with developmental delay 0 1 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 1
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 1 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 1
Charcot-Marie-Tooth disease dominant intermediate C 0 1 0 1
Charcot-Marie-Tooth disease type 1B 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 0 0 1 1
Charcot-Marie-Tooth disease, axonal, IIa 2II 0 0 1 1
Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 0 1 0 1
Charcot-Marie-tooth disease, axonal, type 2DD; Hypomagnesemia, seizures, and intellectual disability 2 0 0 1 1
Chopra-Amiel-Gordon syndrome 1 0 0 1
Coffin-Siris syndrome 1 0 0 1 1
Coffin-Siris syndrome 10 1 0 0 1
Cohen-Gibson syndrome 0 1 0 1
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 0 0 1 1
Complement component 6 deficiency 0 1 0 1
Complement component 9 deficiency 0 1 0 1
Cone-rod dystrophy 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 0 1 0 1
Cone-rod dystrophy 6; Leber congenital amaurosis 1 0 1 0 1
Congenital afibrinogenemia; Familial dysfibrinogenemia 0 1 0 1
Congenital factor V deficiency 0 1 0 1
Congenital muscular dystrophy due to integrin alpha-7 deficiency 0 1 0 1
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 1 0 0 1
Congenital myopathy 18 0 0 1 1
Congenital myotonia, autosomal dominant form 1 0 0 1
Conotruncal heart malformations 0 1 0 1
Cornelia de Lange syndrome 1 0 0 1 1
Cornelia de Lange syndrome 5 0 0 1 1
Costello syndrome 1 0 0 1
Creatine transporter deficiency 0 1 0 1
Cryptorchidism 0 1 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 1 0 1
Cystinuria 0 1 0 1
Dermatitis, atopic, 2 1 0 0 1
Dermatitis, atopic, 2; Ichthyosis vulgaris 1 0 0 1
Developmental and epileptic encephalopathy 92 1 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 1
Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 0 0 1 1
Developmental and epileptic encephalopathy, 24; Generalized epilepsy with febrile seizures plus, type 10 0 1 0 1
Developmental and epileptic encephalopathy, 25 1 0 0 1
Developmental and epileptic encephalopathy, 41 0 0 1 1
Developmental and epileptic encephalopathy, 43 1 0 0 1
Developmental and epileptic encephalopathy, 48 0 1 0 1
Developmental and epileptic encephalopathy, 52 1 0 0 1
Developmental and epileptic encephalopathy, 57 0 0 1 1
Developmental and epileptic encephalopathy, 72 0 0 1 1
Developmental delay and seizures with or without movement abnormalities 0 0 1 1
Developmental delay with dysmorphic facies and dental anomalies 0 0 1 1
Developmental delay with dysmorphic facies and dental anomalies; Kohlschutter-Tonz syndrome-like 0 0 1 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 1
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 0 0 1 1
Developmental delay, impaired speech, and behavioral abnormalities 0 1 0 1
Dias-Logan syndrome 1 0 0 1
Diets-Jongmans syndrome 0 0 1 1
Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 1
Dilated cardiomyopathy 1A; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; Congenital muscular dystrophy due to LMNA mutation 1 0 0 1
Dilated cardiomyopathy 1AA 0 0 1 1
Dilated cardiomyopathy 1C 0 0 1 1
Dilated cardiomyopathy 1D 0 0 1 1
Dilated cardiomyopathy 1DD 1 0 0 1
Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3 0 1 0 1
Dilated cardiomyopathy 1G; Hypertrophic cardiomyopathy 9 1 0 0 1
Dilated cardiomyopathy 1I 0 0 1 1
Dilated cardiomyopathy 1J; Autosomal dominant nonsyndromic hearing loss 10 0 1 0 1
Dilated cardiomyopathy 1KK 0 0 1 1
Dilated cardiomyopathy 1S 1 0 0 1
Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7 0 0 1 1
Dilated cardiomyopathy 2A; Dilated cardiomyopathy 1FF 0 1 0 1
Dilated cardiomyopathy 3B 0 0 1 1
Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68 0 0 1 1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 0 1 0 1
Ehlers-Danlos syndrome due to tenascin-X deficiency 1 0 0 1
Ehlers-Danlos syndrome, classic type, 1; Neurodevelopmental disorder with or without autism or seizures 0 0 1 1
Elliptocytosis 2 0 0 1 1
Emery-Dreifuss muscular dystrophy 1, X-linked 1 0 0 1
Encephalopathy due to GLUT1 deficiency 0 1 0 1
Epilepsy with myoclonic atonic seizures 0 1 0 1
Epilepsy, familial focal, with variable foci 3 0 1 0 1
Episodic kinesigenic dyskinesia 3 0 0 1 1
Erythrokeratodermia variabilis et progressiva 6 0 0 1 1
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma 1 0 0 1
Familial Mediterranean fever 0 0 1 1
Familial Mediterranean fever, autosomal dominant 1 0 0 1
Familial adenomatous polyposis 2 1 0 0 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Pancreatic cancer, susceptibility to, 2 1 0 0 1
Familial dysfibrinogenemia 0 1 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 1 0 1
Familial visceral amyloidosis, Ostertag type 1 0 0 1
Fliedner-Zweier syndrome 0 1 0 1
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 1 0 0 1
Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 1
Giant axonal neuropathy 1 1 0 0 1
Global developmental delay with or without impaired intellectual development 1 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 1 0 1
Glycogen storage disease type III 0 0 1 1
Glycogen storage disease, type VII 0 0 1 1
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 1 0 0 1
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease 0 0 1 1
Hearing loss, autosomal dominant 82 1 0 0 1
Hereditary diffuse gastric adenocarcinoma 1 0 0 1
Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect 0 1 0 1
Hereditary sensory and autonomic neuropathy type 7 0 0 1 1
Hereditary spastic paraplegia 4 0 1 0 1
Hereditary spastic paraplegia 47 0 0 1 1
Hereditary spastic paraplegia 52 1 0 0 1
Hereditary spastic paraplegia 6 0 0 1 1
Hereditary spherocytosis type 2 1 0 0 1
Heterotaxy, visceral, 5, autosomal 0 1 0 1
Holoprosencephaly 9; Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 1 0 1
Houge-Janssens syndrome 1 1 0 0 1
Hyperalphalipoproteinemia 1 1 0 0 1
Hypercholesterolemia, autosomal dominant, 3 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 1 0 0 1
Hypertrophic cardiomyopathy 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy 0 1 0 1
Hypertrophic cardiomyopathy 12 0 1 0 1
Hypertrophic cardiomyopathy 1; Arrhythmogenic right ventricular dysplasia 9 0 1 0 1
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 0 1 0 1
Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 0 0 1 1
Hypertrophic cardiomyopathy 3 1 0 0 1
Hypoalphalipoproteinemia, primary, 2 0 0 1 1
Hypogonadotropic hypogonadism 2 with or without anosmia 0 1 0 1
Hypomyelinating leukodystrophy 6 1 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism; VISS syndrome 0 1 0 1
Hypotonia, ataxia, and delayed development syndrome 0 0 1 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 1 1
Immunodeficiency, common variable, 10 0 0 1 1
Intellectual developmental disorder with autism and speech delay 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 1 0 1
Intellectual developmental disorder with poor growth and with or without seizures or ataxia 0 0 1 1
Intellectual developmental disorder with seizures and language delay 1 0 0 1
Intellectual developmental disorder, autosomal dominant 65 0 0 1 1
Intellectual developmental disorder, autosomal recessive 67 1 0 0 1
Intellectual disability, X-linked 21 0 1 0 1
Intellectual disability, X-linked 30 0 1 0 1
Intellectual disability, X-linked 9 0 0 1 1
Intellectual disability, X-linked 90 0 0 1 1
Intellectual disability, X-linked syndromic, Turner type 0 1 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 1
Intellectual disability, autosomal dominant 13 0 1 0 1
Intellectual disability, autosomal dominant 24 0 0 1 1
Intellectual disability, autosomal dominant 3 0 0 1 1
Intellectual disability, autosomal dominant 30 0 0 1 1
Intellectual disability, autosomal dominant 33 0 1 0 1
Intellectual disability, autosomal dominant 42 1 0 0 1
Intellectual disability, autosomal dominant 43 0 0 1 1
Intellectual disability, autosomal dominant 5 1 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 1
Intellectual disability, autosomal dominant 51 0 1 0 1
Intellectual disability, autosomal dominant 53 0 0 1 1
Intellectual disability, autosomal dominant 56 0 0 1 1
Intellectual disability, autosomal recessive 27 0 1 0 1
Intellectual disability, autosomal recessive 7 0 1 0 1
KBG syndrome 1 0 0 1
Kabuki syndrome 1 1 0 0 1
Kartagener syndrome 1 0 0 1
LZTR1-related schwannomatosis 1 0 0 1
Larsen syndrome 0 0 1 1
Left ventricular noncompaction 10 1 0 0 1
Left ventricular noncompaction 8 0 0 1 1
Li-Fraumeni syndrome 1 1 0 0 1
Lissencephaly due to LIS1 mutation 1 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 0 1 0 1
Loeys-Dietz syndrome 6 0 0 1 1
Long QT syndrome 15 0 0 1 1
Long QT syndrome 5 0 1 0 1
Low phospholipid associated cholelithiasis 1 0 0 1
Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3 0 1 0 1
Lynch syndrome 4 0 1 0 1
Lynch syndrome 5; Mismatch repair cancer syndrome 4 0 0 1 1
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 0 0 1 1
Macrothrombocytopenia, isolated, 1, autosomal dominant 0 0 1 1
Malan overgrowth syndrome 0 1 0 1
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 1 0 0 1
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 8 1 0 0 1
Menke-Hennekam syndrome 1 0 1 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 1 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 1 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome; Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 1 0 1
Myopathy, centronuclear, 5 0 0 1 1
Myopathy, myofibrillar, 9, with early respiratory failure 1 0 0 1
Nail-patella syndrome; Nail-patella-like renal disease 0 0 1 1
Neural tube defects, susceptibility to 0 1 0 1
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 0 1 0 1
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction 0 0 1 1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 0 0 1 1
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 0 0 1 1
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures 0 0 1 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 1 0 1
Neurodevelopmental disorder with or without autism or seizures 1 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 1 0 0 1
Neurodevelopmental disorder with or without seizures and gait abnormalities 0 0 1 1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities 1 0 0 1
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 1 0 0 1
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 0 0 1 1
Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 0 1 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 0 1 1
Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 1 0 0 1
Neuropathy, hereditary sensory and autonomic, type 1A; Amyotrophic lateral sclerosis 27, juvenile 0 0 1 1
Nicolaides-Baraitser syndrome 0 1 0 1
Noonan syndrome 12 0 1 0 1
Noonan syndrome 1; LEOPARD syndrome 1 1 0 0 1
Noonan syndrome 3 1 0 0 1
Noonan syndrome 5 1 0 0 1
Nystagmus 1, congenital, X-linked 0 1 0 1
Oculocutaneous albinism type 1A; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 1 0 0 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form 0 1 0 1
Ornithine carbamoyltransferase deficiency 1 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I 0 0 1 1
Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Osteogenesis imperfecta type I 1 0 0 1
Ovarian hyperstimulation syndrome; Ovarian dysgenesis 1 0 0 1 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 0 1 1
Paramyotonia congenita of Von Eulenburg; Congenital myasthenic syndrome 16 0 0 1 1
Parenti-mignot neurodevelopmental syndrome 0 1 0 1
Partial androgen insensitivity syndrome 1 0 0 1
Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12 1 0 0 1
Pitt-Hopkins syndrome 1 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 1 0 0 1
Polycystic kidney disease 4 1 0 0 1
Pontocerebellar hypoplasia type 2A 1 0 0 1
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis 0 0 1 1
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal 0 0 1 1
Premature ovarian failure 15 1 0 0 1
Premature ovarian failure 17 0 0 1 1
Primary erythromelalgia; Paroxysmal extreme pain disorder 0 0 1 1
Radio-Tartaglia syndrome 1 0 0 1
Rahman syndrome 0 0 1 1
Rauch-Steindl syndrome 0 1 0 1
Renal hypomagnesemia 6; Hypomagnesemia, seizures, and intellectual disability 1 0 1 0 1
Renpenning syndrome 1 0 0 1
Retinitis pigmentosa 3 1 0 0 1
Rh-null, regulator type; Supravalvar aortic stenosis 0 0 1 1
Rothmund-Thomson syndrome type 2 1 0 0 1
Schaaf-Yang syndrome 0 0 1 1
Seizures, benign familial infantile, 2 1 0 0 1
Seizures, benign familial infantile, 3 0 1 0 1
Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 1 0 0 1
Seizures, benign familial neonatal, 1; Developmental and epileptic encephalopathy, 7 0 1 0 1
Severe X-linked myotubular myopathy 0 0 1 1
Severe early-childhood-onset retinal dystrophy 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 1 0 0 1
Severe myoclonic epilepsy in infancy 0 1 0 1
Shashi-Pena syndrome 0 1 0 1
Sick sinus syndrome 2, autosomal dominant; Brugada syndrome 8 0 0 1 1
Smith-McCort dysplasia 2 0 0 1 1
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 0 0 1 1
Spermatogenic failure 77 1 0 0 1
Spermatogenic failure, X-linked, 2 0 1 0 1
Spermatogenic failure, Y-linked, 2 1 0 0 1
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant 0 1 0 1
Spinocerebellar ataxia type 42 0 0 1 1
Spondylocarpotarsal synostosis syndrome 0 1 0 1
Spondyloperipheral dysplasia 0 1 0 1
Sulfite oxidase deficiency 0 1 0 1
Syndromic X-linked intellectual disability 94 0 0 1 1
Syndromic X-linked intellectual disability Claes-Jensen type 1 0 0 1
Syndromic X-linked intellectual disability Najm type 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 1
Tolchin-Le Caignec syndrome 0 1 0 1
Torsion dystonia 6 0 1 0 1
Tuberous sclerosis 1 1 0 0 1
Type A2 brachydactyly; Brachydactyly type C; Brachydactyly type A1C 1 0 0 1
Upshaw-Schulman syndrome 0 1 0 1
Usmani-Riazuddin syndrome, autosomal dominant 1 0 0 1
Venular insufficiency, systemic 1 0 0 1
Vertebral, cardiac, tracheoesophageal, renal, and limb defects 0 0 1 1
Von Hippel-Lindau syndrome 0 0 1 1
Weiss-Kruszka syndrome 0 1 0 1
Wiedemann-Steiner syndrome 0 1 0 1
Wilson disease 0 0 1 1
Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Wolfram-like syndrome 0 0 1 1
X-linked cone-rod dystrophy 1; Retinitis pigmentosa 3; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness; Macular degeneration, X-linked atrophic 1 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 1
X-linked sideroblastic anemia with ataxia 0 1 0 1
X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome 0 0 1 1
von Willebrand disease type 3 1 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.