ClinVar Miner

Variants from Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen

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 not provided total
85 148 155 5 4 1 397

Gene and significance breakdown #

Total genes and gene combinations: 309
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PKD1 2 5 6 0 0 0 13
PKD2 1 2 2 0 0 0 5
MYH7 0 2 2 0 0 0 4
PKHD1 0 0 4 0 0 0 4
SMN1 2 2 0 0 0 0 4
WDR11 4 0 0 0 0 0 4
CEP290 0 3 0 0 0 0 3
FBN1 0 2 1 0 0 0 3
GCK 0 3 0 0 0 0 3
GJB1 1 1 1 0 0 0 3
LOC100507346, PTCH1 2 1 0 0 0 0 3
MME 0 2 1 0 0 0 3
POGZ 0 3 0 0 0 0 3
SACS 0 1 2 0 0 0 3
SHANK3 3 0 0 0 0 0 3
ABCA4 1 1 0 0 0 0 2
ACAN 0 1 1 0 0 0 2
APC 0 2 0 0 0 0 2
ATL1 0 2 0 0 0 0 2
CACNA1A 0 0 2 0 0 0 2
CCDST, FLG 0 0 0 0 2 0 2
CDK8 0 2 0 0 0 0 2
CLCN1 0 1 1 0 0 0 2
CLCN3 0 1 1 0 0 0 2
COL4A1 0 1 1 0 0 0 2
COL4A5 1 0 1 0 0 0 2
COL5A1 1 0 1 0 0 0 2
COQ8A 0 0 2 0 0 0 2
DLL1 1 1 0 0 0 0 2
DYNC1H1 0 0 2 0 0 0 2
FGD1 0 1 1 0 0 0 2
GATA3 0 0 2 0 0 0 2
GBF1 0 0 2 0 0 0 2
HMBS 0 1 1 0 0 0 2
HSPB1 0 0 2 0 0 0 2
IGHMBP2 1 1 0 0 0 0 2
KIF1B 0 0 1 1 0 0 2
KITLG 0 1 1 0 0 0 2
KMT2C 2 0 0 0 0 0 2
MFN2 0 0 2 0 0 0 2
MYBPC3 1 1 0 0 0 0 2
MYO9A 0 0 2 0 0 0 2
NBEA 0 2 0 0 0 0 2
NEK1 0 1 1 0 0 0 2
NF1 1 1 0 0 0 0 2
NR4A2 0 1 1 0 0 0 2
PAX3 1 1 0 0 0 0 2
PHIP 1 1 0 0 0 0 2
PLP1, RAB9B 0 1 1 0 0 0 2
POLRMT 0 0 2 0 0 0 2
PTEN 1 1 0 0 0 0 2
RNF216 0 0 2 0 0 0 2
RYR1 0 1 1 0 0 0 2
RYR2 0 1 1 0 0 0 2
SCN1A, SCN9A 0 0 2 0 0 0 2
SCN5A 1 1 0 0 0 0 2
SLC25A26 0 0 2 0 0 0 2
TGM1 1 1 0 0 0 0 2
USH2A 1 1 0 0 0 0 2
ABL1 0 0 1 0 0 0 1
ACSL4 0 0 1 0 0 0 1
ACTA1 1 0 0 0 0 0 1
ADGRV1 0 1 0 0 0 0 1
ADNP 0 1 0 0 0 0 1
AHDC1 1 0 0 0 0 0 1
AIFM1, RAB33A 0 0 1 0 0 0 1
AP1G1 0 1 0 0 0 0 1
AP1S2 0 1 0 0 0 0 1
APIP, CD44, CD44-DT, COMMD9, FJX1, IFTAP, LDLRAD3, LOC101928510, LOC112081393, LOC121392908, LOC121832790, LOC124433245, LOC124433246, LOC124433247, LOC126861184, LOC126861185, LOC126861186, LOC126861187, LOC126861188, LOC126861189, LOC126861190, LOC126861191, LOC130005546, LOC130005547, LOC130005548, LOC130005549, LOC130005550, LOC130005551, LOC130005552, LOC130005553, LOC130005554, LOC130005555, LOC130005556, LOC130005557, LOC130005558, LOC130005559, LOC130005560, LOC130005561, LOC130005562, LOC130005563, LOC130005564, LOC130005565, LOC130005566, LOC130005567, LOC130005568, LOC130005569, LOC130005570, LOC130005571, LOC130005572, LOC130005573, LOC130005574, LOC130005575, LOC130005576, LOC130005577, LOC130005578, LOC130005579, LOC130005580, LOC130005581, LOC132089932, LOC132089933, LOC132089934, LOC132089935, LOC132089936, MIR1343, MIR3973, PAMR1, PDHX, PRR5L, RAG1, RAG2, SLC1A2, SNORD164, TRAF6, TRIM44 0 0 1 0 0 0 1
APOA5 0 0 1 0 0 0 1
APOB 0 0 0 1 0 0 1
APP 0 1 0 0 0 0 1
ARID1B 0 1 0 0 0 0 1
ARMC9, LOC122861306 0 0 0 1 0 0 1
ASH1L 0 1 0 0 0 0 1
ASXL2 0 1 0 0 0 0 1
ASXL3 0 0 1 0 0 0 1
ATM 1 0 0 0 0 0 1
ATP7B 1 0 0 0 0 0 1
ATRX 0 1 0 0 0 0 1
AUTS2 1 0 0 0 0 0 1
AVPR2 0 1 0 0 0 0 1
BAP1 0 1 0 0 0 0 1
BCORL1 0 0 1 0 0 0 1
BMP6 0 0 1 0 0 0 1
BPTF 1 0 0 0 0 0 1
BRAF 0 0 1 0 0 0 1
BRPF1 0 0 1 0 0 0 1
BSN 0 0 1 0 0 0 1
BUB1 0 0 1 0 0 0 1
C2orf69 1 0 0 0 0 0 1
CACNA1E 0 0 1 0 0 0 1
CACNA1F 0 0 1 0 0 0 1
CACNA1G 0 0 1 0 0 0 1
CAMK2A 0 1 0 0 0 0 1
CAMTA1 0 0 1 0 0 0 1
CAPN15 0 0 1 0 0 0 1
CAPN3, LOC126862115 0 0 1 0 0 0 1
CASR 0 0 1 0 0 0 1
CBL 0 0 1 0 0 0 1
CDK19 0 1 0 0 0 0 1
CFAP74 0 0 0 1 0 0 1
CHD1 1 0 0 0 0 0 1
CHD7 0 0 1 0 0 0 1
CIC 0 1 0 0 0 0 1
CNGB1 1 0 0 0 0 0 1
CNGB1, LOC130059126 0 0 1 0 0 0 1
CNOT1 0 0 1 0 0 0 1
CNOT2 0 1 0 0 0 0 1
CNOT3 1 0 0 0 0 0 1
COL11A1 0 0 1 0 0 0 1
COL1A1 0 1 0 0 0 0 1
COL1A2 0 0 1 0 0 0 1
COL2A1 0 1 0 0 0 0 1
COL4A4 0 0 1 0 0 0 1
COL6A1 0 1 0 0 0 0 1
CRB1 0 0 1 0 0 0 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 0 0 1 0 0 0 1
DAGLA 1 0 0 0 0 0 1
DDX3X 0 1 0 0 0 0 1
DEAF1 0 0 1 0 0 0 1
DLG4 0 1 0 0 0 0 1
DMD 1 0 0 0 0 0 1
DNM1 0 0 1 0 0 0 1
DNM2 0 0 1 0 0 0 1
DSG2 0 1 0 0 0 0 1
DSP 0 1 0 0 0 0 1
DTYMK 0 0 1 0 0 0 1
DYRK1A 1 0 0 0 0 0 1
EDC3 1 0 0 0 0 0 1
EEF2 0 1 0 0 0 0 1
EIF2B2 0 0 1 0 0 0 1
ELN 1 0 0 0 0 0 1
EMC10 1 0 0 0 0 0 1
EPCAM 1 0 0 0 0 0 1
ETV6 0 1 0 0 0 0 1
F12, FGFR4, LMAN2, LOC109279841, LOC110121284, LOC121099716, LOC121740633, LOC126807618, LOC126807619, LOC126807620, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, MXD3, NSD1, PFN3, PRELID1, RAB24, RGS14, SLC34A1, ZNF346 1 0 0 0 0 0 1
FAT2, SLC36A1 0 0 1 0 0 0 1
FLCN 0 1 0 0 0 0 1
FLNA 1 0 0 0 0 0 1
FLNB 0 1 0 0 0 0 1
FMR1 0 0 1 0 0 0 1
FOXP1 0 1 0 0 0 0 1
FRYL 0 0 0 0 1 0 1
GABBR2 0 1 0 0 0 0 1
GATAD2B 1 0 0 0 0 0 1
GFI1B 0 0 1 0 0 0 1
GFPT1 0 1 0 0 0 0 1
GLI3 0 1 0 0 0 0 1
GM2A 0 1 0 0 0 0 1
GNB4 0 0 1 0 0 0 1
GNPTAB 1 0 0 0 0 0 1
GRIN1 0 1 0 0 0 0 1
GRIN2A 0 1 0 0 0 0 1
GUSB 0 1 0 0 0 0 1
H3-3A 0 1 0 0 0 0 1
H6PD 0 0 0 0 1 0 1
HCN1 0 0 1 0 0 0 1
HGSNAT 1 0 0 0 0 0 1
HMGA2 0 0 1 0 0 0 1
HNF1B 0 0 1 0 0 0 1
HNRNPA2B1 0 0 1 0 0 0 1
HOXD13 1 0 0 0 0 0 1
IARS2 0 0 1 0 0 0 1
IDUA, SLC26A1 1 0 0 0 0 0 1
IFT172, LOC126806174 0 0 1 0 0 0 1
IGF1R 0 1 0 0 0 0 1
IHH 0 1 0 0 0 0 1
IL1RAPL1 0 1 0 0 0 0 1
IMPG2 0 0 1 0 0 0 1
INSL6, JAK2 0 0 1 0 0 0 1
JAG1 0 1 0 0 0 0 1
JARID2 1 0 0 0 0 0 1
JMJD8, STUB1 0 1 0 0 0 0 1
KCNA1 1 0 0 0 0 0 1
KCNK18 0 0 1 0 0 0 1
KDM5C 0 1 0 0 0 0 1
KMT2A 0 1 0 0 0 0 1
KMT2D 0 1 0 0 0 0 1
KRIT1 0 1 0 0 0 0 1
KRT3 0 0 1 0 0 0 1
L1CAM 0 1 0 0 0 0 1
LARP7, MIR302CHG 0 1 0 0 0 0 1
LCAT 0 1 0 0 0 0 1
LEMD3 1 0 0 0 0 0 1
LHCGR, STON1-GTF2A1L 0 1 0 0 0 0 1
LMNA 0 0 1 0 0 0 1
LOC102724058, SCN1A 1 0 0 0 0 0 1
LOC106780803, TNXB 0 0 1 0 0 0 1
LOC110121445, LOC111365175, LOC111413023, LOC111982875, LOC121815951, LOC121815952, LOC124416852, LOC124416853, LOC126860974, LOC128462378, LOC128462379, LOC128462381, LOC128462388, LOC128462398, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, ZMIZ1 1 0 0 0 0 0 1
LOC126806420, TTN 0 0 1 0 0 0 1
LOC126859827, TAB2 1 0 0 0 0 0 1
LOC126860395, PLAG1 0 0 1 0 0 0 1
LOC126860498, WASHC5 0 0 1 0 0 0 1
LOC126860568, RIC1 0 0 1 0 0 0 1
LOC126860794, NOTCH1 1 0 0 0 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 0 0 0 1
LRSAM1 0 0 1 0 0 0 1
LTBP4 0 0 1 0 0 0 1
LYRM7 0 1 0 0 0 0 1
MACF1 0 1 0 0 0 0 1
MAP3K1 0 0 1 0 0 0 1
MAPK8IP3 0 0 1 0 0 0 1
MARS1 0 0 1 0 0 0 1
MED12L, P2RY12 0 1 0 0 0 0 1
MORC2 0 0 1 0 0 0 1
MSH2 0 0 1 0 0 0 1
MSN 0 0 1 0 0 0 1
MYH3 0 1 0 0 0 0 1
NALCN 0 1 0 0 0 0 1
NCKAP1 1 0 0 0 0 0 1
NEB 0 1 0 0 0 0 1
NEFL 1 0 0 0 0 0 1
NEXMIF 1 0 0 0 0 0 1
NF2 1 0 0 0 0 0 1
NMNAT1 0 1 0 0 0 0 1
NOTCH3 0 1 0 0 0 0 1
NPHP1 0 0 1 0 0 0 1
NPHP4 0 0 1 0 0 0 1
NSD2 0 0 1 0 0 0 1
NT5C3A 0 1 0 0 0 0 1
NUS1 0 0 1 0 0 0 1
OCRL 0 1 0 0 0 0 1
OGT 0 0 1 0 0 0 1
OPHN1 0 1 0 0 0 0 1
PAK3 0 1 0 0 0 0 1
PCNT 1 0 0 0 0 0 1
PDE4D 0 1 0 0 0 0 1
PDE6B 0 1 0 0 0 0 1
PDX1 0 0 1 0 0 0 1
PIK3CA 0 1 0 0 0 0 1
PLCG2 0 0 1 0 0 0 1
PMS2 0 1 0 0 0 0 1
PNPLA6 0 0 1 0 0 0 1
POLR3B 1 0 0 0 0 0 1
PPP1R12A 1 0 0 0 0 0 1
PRKAR1B 0 0 1 0 0 0 1
PRPF8 0 0 1 0 0 0 1
PRPH2 0 1 0 0 0 0 1
PSMD12 0 0 1 0 0 0 1
PURA 0 1 0 0 0 0 1
RAG1 1 0 0 0 0 0 1
REEP1 0 0 1 0 0 0 1
REEP2 0 0 1 0 0 0 1
REN 0 0 1 0 0 0 1
RHO 0 1 0 0 0 0 1
ROBO1 0 1 0 0 0 0 1
RP1 0 0 1 0 0 0 1
RPGR 0 0 1 0 0 0 1
RPL13 1 0 0 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 0 1
SAMD9L 0 0 1 0 0 0 1
SCN11A 0 1 0 0 0 0 1
SDHA 0 1 0 0 0 0 1
SDHB 0 0 1 0 0 0 1
SERPING1 1 0 0 0 0 0 1
SETX 0 1 0 0 0 0 1
SH3PXD2B 0 0 1 0 0 0 1
SH3TC2 0 0 1 0 0 0 1
SLC25A46 0 1 0 0 0 0 1
SLC2A1 1 0 0 0 0 0 1
SLC45A1 0 0 1 0 0 0 1
SLC6A1 1 0 0 0 0 0 1
SLC6A8 0 0 1 0 0 0 1
SLC6A9 0 1 0 0 0 0 1
SMARCA2 0 1 0 0 0 0 1
SMARCC2 0 1 0 0 0 0 1
SMC3 0 0 1 0 0 0 1
SMCHD1 0 1 0 0 0 0 1
SMN2 0 0 0 1 0 0 1
SPAST 0 1 0 0 0 0 1
SPEN 1 0 0 0 0 0 1
SPRED1 1 0 0 0 0 0 1
SPTBN4 0 0 1 0 0 0 1
SRRM2 0 0 1 0 0 0 1
STAT1 0 1 0 0 0 0 1
STIM1 0 0 0 0 0 1 1
STT3A 0 0 1 0 0 0 1
STX1B 0 0 1 0 0 0 1
STXBP1 0 1 0 0 0 0 1
SYNGAP1 1 0 0 0 0 0 1
TACO1 1 0 0 0 0 0 1
TAOK1 1 0 0 0 0 0 1
TGFB3 0 0 1 0 0 0 1
TLK2 1 0 0 0 0 0 1
TNFRSF1A 0 1 0 0 0 0 1
TNNC1 0 0 1 0 0 0 1
TNRC6B 0 1 0 0 0 0 1
TNXB 0 0 1 0 0 0 1
TRAF7 0 1 0 0 0 0 1
TREM2 0 1 0 0 0 0 1
TRIO 0 1 0 0 0 0 1
TRPA1 0 0 1 0 0 0 1
TRPV4 0 0 1 0 0 0 1
TSC2 0 0 1 0 0 0 1
TTC7A 1 0 0 0 0 0 1
TTI1 0 1 0 0 0 0 1
TTN 0 0 1 0 0 0 1
UFSP2 1 0 0 0 0 0 1
VPS13B 0 1 0 0 0 0 1
WARS1 0 0 1 0 0 0 1
WDR45 1 0 0 0 0 0 1
WFS1 0 0 1 0 0 0 1
WNK3 1 0 0 0 0 0 1
WT1 0 1 0 0 0 0 1
YY1 0 1 0 0 0 0 1
ZMIZ1 1 0 0 0 0 0 1
ZMYM2 0 1 0 0 0 0 1
ZNF292 1 0 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 320
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Polycystic kidney disease, adult type 2 5 6 0 0 0 13
Microcephaly 4 0 1 0 0 0 5
Polycystic kidney disease 2 1 2 2 0 0 0 5
Polycystic kidney disease 4 0 0 4 0 0 0 4
Werdnig-Hoffmann disease 2 2 0 0 0 0 4
Charcot-Marie-Tooth disease X-linked dominant 1 1 1 1 0 0 0 3
Charcot-Marie-Tooth disease axonal type 2T 0 2 1 0 0 0 3
Charlevoix-Saguenay spastic ataxia 0 1 2 0 0 0 3
Hypertrophic cardiomyopathy 1 0 1 2 0 0 0 3
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 3 0 0 0 0 3
Marfan syndrome 0 2 1 0 0 0 3
Maturity-onset diabetes of the young type 2 0 3 0 0 0 0 3
Neuromuscular disease 0 0 0 2 1 0 3
Phelan-McDermid syndrome 3 0 0 0 0 0 3
Rod-cone dystrophy 0 3 0 0 0 0 3
Aarskog syndrome 0 1 1 0 0 0 2
Acute intermittent porphyria 0 1 1 0 0 0 2
Amyotrophic lateral sclerosis, susceptibility to, 24 0 1 1 0 0 0 2
Autosomal recessive ataxia due to ubiquinone deficiency 0 0 2 0 0 0 2
Autosomal recessive congenital ichthyosis 1 1 1 0 0 0 0 2
Bronchiectasis 0 0 2 0 0 0 2
Brugada syndrome 1 1 1 0 0 0 0 2
Catecholaminergic polymorphic ventricular tachycardia 1 0 1 1 0 0 0 2
Cerebellar ataxia-hypogonadism syndrome 0 0 2 0 0 0 2
Charcot-Marie-Tooth Disease, axonal, type 2GG 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease axonal type 2F 0 0 2 0 0 0 2
Charcot-Marie-Tooth disease type 2A2 0 0 2 0 0 0 2
Combined oxidative phosphorylation deficiency 28 0 0 2 0 0 0 2
Combined oxidative phosphorylation deficiency 55 0 0 2 0 0 0 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 0 2 0 0 0 2
Ehlers-Danlos syndrome, classic type, 1 1 0 1 0 0 0 2
Familial adenomatous polyposis 1 0 2 0 0 0 0 2
Hypertrophic cardiomyopathy 4 1 1 0 0 0 0 2
Hypoparathyroidism, deafness, renal disease syndrome 0 0 2 0 0 0 2
Ichthyosis vulgaris 0 0 0 0 2 0 2
Intellectual developmental disorder with hypotonia and behavioral abnormalities 0 2 0 0 0 0 2
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 0 1 1 0 0 0 2
Kleefstra syndrome 2 2 0 0 0 0 0 2
Macrocephaly-autism syndrome 1 1 0 0 0 0 2
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 2 0 0 0 0 0 2
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 1 1 0 0 0 2
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures 1 1 0 0 0 0 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 0 2 0 0 0 0 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 1 1 0 0 0 0 2
Recurrent fever 0 0 2 0 0 0 2
Retinitis pigmentosa 45 1 0 1 0 0 0 2
Seizure 0 0 2 0 0 0 2
Severe early-childhood-onset retinal dystrophy 1 1 0 0 0 0 2
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 0 1 1 0 0 0 2
Usher syndrome type 2A 1 1 0 0 0 0 2
X-linked Alport syndrome 1 0 1 0 0 0 2
11p13 microduplication syndrome 0 0 1 0 0 0 1
46,XY sex reversal 6 0 0 1 0 0 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 1 0 0 0 0 1
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 1 0 0 0 0 0 1
Abnormality of the eye 0 0 1 0 0 0 1
Acrodysostosis 2 with or without hormone resistance 0 1 0 0 0 0 1
Actin accumulation myopathy 1 0 0 0 0 0 1
Alagille syndrome due to a JAG1 point mutation 0 1 0 0 0 0 1
Alpha thalassemia-X-linked intellectual disability syndrome 0 1 0 0 0 0 1
Aortic valve disease 1 1 0 0 0 0 0 1
Arrhythmogenic right ventricular dysplasia 10 0 1 0 0 0 0 1
Ataxia-pancytopenia syndrome 0 0 1 0 0 0 1
Ataxia-telangiectasia syndrome 1 0 0 0 0 0 1
Atelosteogenesis type III 0 1 0 0 0 0 1
Atypical glycine encephalopathy 0 1 0 0 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 1 0 0 0 0 0 1
Autistic behavior; Neurodevelopmental abnormality 1 0 0 0 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 1 0 0 0 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 0 0 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 69 0 1 0 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 0 1 0 0 0 0 1
Basal cell nevus syndrome 1 1 0 0 0 0 0 1
Becker muscular dystrophy 1 0 0 0 0 0 1
Benign paroxysmal tonic upgaze of childhood with ataxia 1 0 0 0 0 0 1
Bethlem myopathy 1A 0 1 0 0 0 0 1
Birt-Hogg-Dube syndrome 0 1 0 0 0 0 1
Blepharophimosis; Intellectual disability 0 1 0 0 0 0 1
Brachydactyly type A1A 0 1 0 0 0 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 0 0 0 1
Brugada syndrome 8 0 0 1 0 0 0 1
Bryant-Li-Bhoj neurodevelopmental syndrome 1 0 1 0 0 0 0 1
CBL-related disorder 0 0 1 0 0 0 1
CHD7-related CHARGE syndrome 0 0 1 0 0 0 1
CLOVES syndrome 0 1 0 0 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 0 1 0 0 0 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 1 0 0 0 0 1
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0 0 1 0 0 0 1
Central core myopathy 0 0 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 0 0 1 0 0 0 1
Cerebral amyloid angiopathy, APP-related; Alzheimer disease type 1 0 1 0 0 0 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 0 0 0 1
Cerebral cavernous malformation 0 1 0 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2S 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2U 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease dominant intermediate F 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2A1 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 2E 1 0 0 0 0 0 1
Charcot-Marie-Tooth disease type 4C 0 0 1 0 0 0 1
Chromosome 15q11.2 deletion syndrome 0 0 1 0 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 0 0 1
Coffin-Siris syndrome 8 0 1 0 0 0 0 1
Cohen syndrome 0 1 0 0 0 0 1
Colorectal cancer 0 0 1 0 0 0 1
Combined immunodeficiency due to moesin deficiency 0 0 1 0 0 0 1
Combined oxidative phosphorylation deficiency 53 1 0 0 0 0 0 1
Cone-rod synaptic disorder syndrome, congenital nonprogressive 0 1 0 0 0 0 1
Congenital contractures of the limbs and face, hypotonia, and developmental delay 0 1 0 0 0 0 1
Congenital disorder of glycosylation, type Iw, autosomal dominant 0 0 1 0 0 0 1
Congenital heart defects and skeletal malformations syndrome 0 0 1 0 0 0 1
Congenital heart defects, multiple types, 2 1 0 0 0 0 0 1
Congenital hereditary endothelial dystrophy of cornea 0 0 1 0 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 1 0 0 0 0 1
Congenital myasthenic syndrome 12 0 1 0 0 0 0 1
Congenital myotonia, autosomal dominant form 0 0 1 0 0 0 1
Congenital myotonia, autosomal recessive form 0 1 0 0 0 0 1
Cornelia de Lange syndrome 3 0 0 1 0 0 0 1
Creatine transporter deficiency 0 0 1 0 0 0 1
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 0 0 1 0 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 0 0 1
Dermatofibrosis lenticularis disseminata 1 0 0 0 0 0 1
Developmental and epileptic encephalopathy, 31A 0 0 1 0 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 59 0 1 0 0 0 0 1
Developmental and epileptic encephalopathy, 69 0 0 1 0 0 0 1
Developmental delay with or without intellectual impairment or behavioral abnormalities 1 0 0 0 0 0 1
Diabetes insipidus, nephrogenic, X-linked 0 1 0 0 0 0 1
Dilated cardiomyopathy 1G 0 0 1 0 0 0 1
Dilated cardiomyopathy 1S 0 1 0 0 0 0 1
Dilated cardiomyopathy 1Z 0 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 0 0 1 0 0 0 1
Encephalopathy due to GLUT1 deficiency 1 0 0 0 0 0 1
Epilepsy with myoclonic atonic seizures 1 0 0 0 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 8 0 0 1 0 0 0 1
Episodic ataxia type 1 1 0 0 0 0 0 1
Episodic ataxia type 2 0 0 1 0 0 0 1
Episodic ataxia type 2; Migraine, familial hemiplegic, 1 0 0 1 0 0 0 1
Facioscapulohumeral muscular dystrophy 1 0 1 0 0 0 0 1
Familial episodic pain syndrome with predominantly lower limb involvement 0 1 0 0 0 0 1
Familial episodic pain syndrome with predominantly upper body involvement 0 0 1 0 0 0 1
Familial idiopathic inflammatory myopathy 0 0 1 0 0 0 1
Familial juvenile hyperuricemic nephropathy type 2 0 0 1 0 0 0 1
Fragile X syndrome 0 0 1 0 0 0 1
Frank-Ter Haar syndrome 0 0 1 0 0 0 1
Freeman-Sheldon syndrome; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A; Arthrogryposis, distal, type 2B3 0 1 0 0 0 0 1
Gabriele de Vries syndrome 0 1 0 0 0 0 1
Gastrointestinal defects and immunodeficiency syndrome 1 1 0 0 0 0 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 0 1 0 0 0 1
Genitourinary and/or brain malformation syndrome 1 0 0 0 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 1 0 0 0 0 1
Global developmental delay; 2-3 finger cutaneous syndactyly 0 0 1 0 0 0 1
Global developmental delay; Delayed myelination; Hypotonia 0 0 1 0 0 0 1
Global developmental delay; Strabismus; Ventricular septal defect 0 0 1 0 0 0 1
Gorlin syndrome 0 1 0 0 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 0 0 0 1
Hand polydactyly 0 1 0 0 0 0 1
Hemolytic anemia due to glutathione reductase deficiency 1 0 0 0 0 0 1
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0 1 0 0 0 0 1
Hereditary angioedema type 1 1 0 0 0 0 0 1
Hereditary spastic paraplegia 0 1 0 0 0 0 1
Hereditary spastic paraplegia 31 0 0 1 0 0 0 1
Hereditary spastic paraplegia 39 0 0 1 0 0 0 1
Hereditary spastic paraplegia 3A 0 1 0 0 0 0 1
Hereditary spastic paraplegia 4 0 1 0 0 0 0 1
Hereditary spastic paraplegia 72 0 0 1 0 0 0 1
Hereditary spastic paraplegia 8 0 0 1 0 0 0 1
Heterotopia, periventricular, X-linked dominant 1 0 0 0 0 0 1
Hurler syndrome 1 0 0 0 0 0 1
Hypercholesterolemia, autosomal dominant, type B 0 0 0 1 0 0 1
Hypertriglyceridemia 1 0 0 1 0 0 0 1
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1 0 0 0 0 0 1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 0 0 1 0 0 0 1
Intellectual developmental disorder 62 0 1 0 0 0 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 0 1 0 0 0 1
Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies 0 1 0 0 0 0 1
Intellectual developmental disorder with neuropsychiatric features 0 0 1 0 0 0 1
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies 1 0 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 64 1 0 0 0 0 0 1
Intellectual developmental disorder, autosomal dominant 72 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Intellectual disability, X-linked 102 0 1 0 0 0 0 1
Intellectual disability, X-linked 106 0 0 1 0 0 0 1
Intellectual disability, X-linked 21 0 1 0 0 0 0 1
Intellectual disability, X-linked 30 0 1 0 0 0 0 1
Intellectual disability, X-linked 63 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 45 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 5 1 0 0 0 0 0 1
Intellectual disability, autosomal dominant 52 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 0 0 1
Intellectual disability, autosomal dominant 55, with seizures 0 0 1 0 0 0 1
Intellectual disability, autosomal dominant 57 1 0 0 0 0 0 1
Intellectual disability, autosomal recessive 50 1 0 0 0 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 0 1 0 0 0 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome 0 1 0 0 0 0 1
Iron overload, susceptibility to 0 0 1 0 0 0 1
Joubert syndrome 30 0 0 0 1 0 0 1
Joubert syndrome with renal defect 0 0 1 0 0 0 1
Kabuki syndrome 1 0 1 0 0 0 0 1
Kleefstra syndrome 1 0 1 0 0 0 0 1
Kugelberg-Welander disease 0 0 0 1 0 0 1
Kury-Isidor syndrome 0 1 0 0 0 0 1
Landau-Kleffner syndrome 0 1 0 0 0 0 1
Leber congenital amaurosis 9 0 1 0 0 0 0 1
Leber optic atrophy 0 0 1 0 0 0 1
Legius syndrome 1 0 0 0 0 0 1
Leukoencephalopathy with vanishing white matter 1 0 0 1 0 0 0 1
Leukoencephalopathy with vanishing white matter 2 0 0 1 0 0 0 1
Leydig cell agenesis 0 1 0 0 0 0 1
Lissencephaly 9 with complex brainstem malformation 0 1 0 0 0 0 1
Lowe syndrome 0 1 0 0 0 0 1
Lynch syndrome 1 0 0 1 0 0 0 1
Lynch syndrome 4 0 1 0 0 0 0 1
Lynch syndrome 8 1 0 0 0 0 0 1
MASA syndrome 0 1 0 0 0 0 1
MYH7-related skeletal myopathy 0 1 0 0 0 0 1
Macular dystrophy 0 0 1 0 0 0 1
Marbach-Schaaf neurodevelopmental syndrome 0 0 1 0 0 0 1
Maturity-onset diabetes of the young type 4 0 0 1 0 0 0 1
Microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0 0 1 0 0 0 1
Microcephalic osteodysplastic primordial dwarfism type II 1 0 0 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 1 0 0 0 0 1
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 1 0 0 0 0 1
Microscopic hematuria 0 0 1 0 0 0 1
Migraine, with or without aura, susceptibility to, 13 0 0 1 0 0 0 1
Mild intellectual disability 1 0 0 0 0 0 1
Mitochondrial complex III deficiency nuclear type 8 0 1 0 0 0 0 1
Mitochondrial complex IV deficiency, nuclear type 8 1 0 0 0 0 0 1
Mucolipidosis type II 1 0 0 0 0 0 1
Mucopolysaccharidosis type 7 0 1 0 0 0 0 1
Mucopolysaccharidosis, MPS-III-C 1 0 0 0 0 0 1
NAD(P)HX dehydratase deficiency 0 1 0 0 0 0 1
Nemaline myopathy 2 0 1 0 0 0 0 1
Nephronophthisis 4 0 0 1 0 0 0 1
Neurodegeneration with brain iron accumulation 5 1 0 0 0 0 0 1
Neurodegeneration, childhood-onset, with progressive microcephaly 0 0 1 0 0 0 1
Neurodevelopmental disorder with dysmorphic facies and variable seizures 1 0 0 0 0 0 1
Neurodevelopmental disorder with microcephaly and movement abnormalities 0 1 0 0 0 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 1 0 0 0 0 1
Neurofibromatosis, type 1 1 0 0 0 0 0 1
Neurofibromatosis, type 2 1 0 0 0 0 0 1
Neurofibromatosis-Noonan syndrome 0 1 0 0 0 0 1
Neuronopathy, distal hereditary motor, type 9 0 0 1 0 0 0 1
Neuropathy, hereditary motor and sensory, type 6B 0 1 0 0 0 0 1
Nizon-Isidor syndrome 0 1 0 0 0 0 1
Norum disease 0 1 0 0 0 0 1
Oculogastrointestinal-neurodevelopmental syndrome 0 0 1 0 0 0 1
Optic atrophy 12 0 1 0 0 0 0 1
Osteogenesis imperfecta type I 0 1 0 0 0 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 0 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 0 0 1
Pan-Chung-Bellen syndrome 0 0 0 0 1 0 1
Pelizaeus-Merzbacher disease 0 0 1 0 0 0 1
Pelizaeus-Merzbacher disease; Hereditary spastic paraplegia 2 0 1 0 0 0 0 1
Pettigrew syndrome 0 1 0 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 4 0 0 1 0 0 0 1
Pheochromocytoma/paraganglioma syndrome 5 0 1 0 0 0 0 1
Pilarowski-Bjornsson syndrome 1 0 0 0 0 0 1
Platelet-type bleeding disorder 17 0 0 1 0 0 0 1
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 0 1 0 0 0 0 1
Precocious puberty; Overgrowth; Macrocephaly; Postaxial polydactyly 1 0 0 0 0 0 1
Prieto syndrome 1 0 0 0 0 0 1
Primary erythromelalgia 0 0 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 0 1 0 0 0 1
Radio-Tartaglia syndrome 1 0 0 0 0 0 1
Renal cysts and diabetes syndrome 0 0 1 0 0 0 1
Retinitis pigmentosa 12 0 0 1 0 0 0 1
Retinitis pigmentosa 13 0 0 1 0 0 0 1
Retinitis pigmentosa 4 0 1 0 0 0 0 1
Retinitis pigmentosa 40 0 1 0 0 0 0 1
Rienhoff syndrome 0 0 1 0 0 0 1
Russell-Silver syndrome 1 0 0 0 0 0 1
Sensorineural hearing loss disorder 0 0 1 0 0 0 1
Severe X-linked mitochondrial encephalomyopathy 0 0 1 0 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 0 0 0 0 0 1
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 0 0 0 0 0 1
Severe myoclonic epilepsy in infancy 1 0 0 0 0 0 1
Shashi-Pena syndrome 0 1 0 0 0 0 1
Short stature 0 1 0 0 0 0 1
Short-rib thoracic dysplasia 10 with or without polydactyly 0 0 1 0 0 0 1
Shukla-Vernon syndrome 0 0 1 0 0 0 1
Silver-Russell syndrome 5 0 0 1 0 0 0 1
Silver-russell syndrome 4 0 0 1 0 0 0 1
Spinocerebellar ataxia 45 0 0 1 0 0 0 1
Spinocerebellar ataxia 48 0 1 0 0 0 0 1
Spinocerebellar ataxia type 26 0 1 0 0 0 0 1
Spinocerebellar ataxia type 42 0 0 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 1 0 0 0 0 0 1
Spondyloepimetaphyseal dysplasia, di rocco type 1 0 0 0 0 0 1
Stankiewicz-Isidor syndrome 0 0 1 0 0 0 1
Stormorken syndrome 0 0 0 0 0 1 1
Supravalvar aortic stenosis 1 0 0 0 0 0 1
Syndactyly type 5 1 0 0 0 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 0 0 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 0 1 0 0 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 0 1 0 0 0 0 1
Tay-Sachs disease, variant AB 0 1 0 0 0 0 1
Thrombocythemia 3 0 0 1 0 0 0 1
Thrombocytopenia 5 0 1 0 0 0 0 1
Tibial muscular dystrophy 0 0 1 0 0 0 1
Usher syndrome type 2C 0 1 0 0 0 0 1
Usmani-Riazuddin syndrome, autosomal dominant 0 1 0 0 0 0 1
Vissers-Bodmer syndrome 0 0 1 0 0 0 1
Vitelliform macular dystrophy 3 0 1 0 0 0 0 1
Vitelliform macular dystrophy 5 0 0 1 0 0 0 1
Waardenburg syndrome 2F 0 0 1 0 0 0 1
Waardenburg syndrome type 1 1 0 0 0 0 0 1
Waardenburg syndrome type 3 0 1 0 0 0 0 1
Wiedemann-Steiner syndrome 0 1 0 0 0 0 1
Wilms tumor 1 0 1 0 0 0 0 1
Wilson disease 1 0 0 0 0 0 1
Wolfram syndrome 1 0 0 1 0 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 0 1 0 0 0 0 1

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