ClinVar Miner

Variants from Institute of Human Genetics, Cologne University

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
180 264 202 5 0 650

Gene and significance breakdown #

Total genes and gene combinations: 382
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 8 9 7 0 24
COL4A5 5 12 2 0 19
FBN1 6 8 5 0 19
KMT2E 6 10 0 0 15
COL4A4 1 10 3 0 14
COL1A1 6 4 1 0 11
COL1A2 4 7 0 0 11
COL4A3, MFF-DT 2 5 0 0 7
PKD2 1 1 5 0 7
TTN 0 5 1 1 7
CASR 1 0 5 0 6
MACF1 0 0 6 0 6
NF1 1 3 2 0 6
ARID1B 3 2 0 0 5
CFH 1 3 1 0 5
CHD7 2 3 0 0 5
AARS1 0 3 1 0 4
GBF1 0 4 0 0 4
IGHMBP2 2 1 1 0 4
LMX1B 2 1 1 0 4
MFN2 2 2 0 0 4
SMAD3 0 2 2 0 4
TSC2 2 0 2 0 4
UMOD 0 2 2 0 4
VPS13D 1 3 0 0 4
ACTA2 0 2 1 0 3
COL2A1 1 2 0 0 3
COL5A1 1 1 1 0 3
CTNS 0 1 2 0 3
DNAJB11 0 1 2 0 3
EFTUD2 0 3 0 0 3
GARS1 1 0 2 0 3
GDAP1 3 0 0 0 3
HNF1B 2 1 0 0 3
KMT2D 3 0 0 0 3
MPZ 1 1 1 0 3
PIEZO2 1 0 2 0 3
PKHD1 0 2 1 0 3
PLEKHG5 1 1 1 0 3
SETX 1 0 2 0 3
TGFB2 0 1 2 0 3
ADNP 1 0 0 1 2
AGTPBP1 1 1 0 0 2
ARHGEF10 0 0 2 0 2
BMPR2 1 1 0 0 2
CAPN3 1 0 1 0 2
CFTR 2 0 0 0 2
CNOT1 0 1 1 0 2
COL12A1 1 0 1 0 2
COL3A1 0 0 2 0 2
COL9A3 1 0 1 0 2
DHTKD1 1 0 1 0 2
DSG1 0 2 0 0 2
ECEL1 0 2 0 0 2
EXT1 2 0 0 0 2
FANCA 1 1 0 0 2
FLCN 1 0 1 0 2
FUS 1 0 1 0 2
GPR143 2 0 0 0 2
IHH 0 1 1 0 2
JAG1 0 1 1 0 2
KIF5C 0 0 1 1 2
LGI4 1 1 0 0 2
LIFR 0 1 1 0 2
LRP2 2 0 0 0 2
MDFIC 1 1 0 0 2
MMP21 0 1 1 0 2
MYLK 0 0 2 0 2
NFKB1 0 2 0 0 2
NIPBL 0 1 1 0 2
NPR2 0 2 0 0 2
NSD2 0 1 1 0 2
OTOG 2 0 0 0 2
PBX1 1 1 0 0 2
PGAP2 0 2 0 0 2
PHEX, PTCHD1 0 1 1 0 2
PNPLA8 0 1 1 0 2
PRX 2 0 0 0 2
PUF60 0 1 1 0 2
SCN2A 0 1 1 0 2
SCN8A 0 2 0 0 2
SEC24D 0 2 0 0 2
SEPSECS 0 1 1 0 2
SLC12A3 1 0 1 0 2
SLC52A2 1 1 0 0 2
SLC7A9 1 0 1 0 2
SMARCAL1 0 2 0 0 2
SOD1 2 0 0 0 2
SPG7 0 0 2 0 2
ST3GAL5 1 1 0 0 2
TGFBR1 0 2 0 0 2
TMEM147 0 1 1 0 2
TNNI3 0 0 2 0 2
TNXB 0 1 1 0 2
TRPV4 1 0 1 0 2
USH1C 1 1 0 0 2
VAC14 0 0 2 0 2
WDR19 0 0 2 0 2
ZFYVE26 1 1 0 0 2
ABCC2 0 1 0 0 1
ACTA1 1 0 0 0 1
ACTN4 0 0 1 0 1
ADAR 0 1 0 0 1
ADGRL1 0 0 1 0 1
ADPRS 1 0 0 0 1
ADSL 0 1 0 0 1
AEBP1 0 0 1 0 1
AFF2 0 1 0 0 1
AGO1 0 0 1 0 1
AGPAT2 0 0 1 0 1
AGXT 0 1 0 0 1
AIRE 0 1 0 0 1
ALG1, EEF2KMT 0 1 0 0 1
AMMECR1 0 0 1 0 1
ANK1 0 1 0 0 1
ANKRD11 1 0 0 0 1
ANLN 0 0 1 0 1
AQP2, AQP5 0 1 0 0 1
ARHGEF9 0 0 1 0 1
ARSA 1 0 0 0 1
ARX 0 0 1 0 1
ASXL3 0 1 0 0 1
ATAD2B 0 0 1 0 1
ATAD3A 0 0 1 0 1
ATL3, LNCROPM 0 1 0 0 1
ATOH7 0 1 0 0 1
ATP6V0C 0 1 0 0 1
ATP7A 0 1 0 0 1
ATXN7L1, KMT2E, PUS7, RINT1, SRPK2 1 0 0 0 1
AUTS2 0 1 0 0 1
AVPR2 1 0 0 0 1
B4GAT1 0 0 1 0 1
BBS10 1 0 0 0 1
BCL11A 0 1 0 0 1
BCOR, LOC126863239 0 0 1 0 1
BICD2 1 0 0 0 1
BICRA 1 0 0 0 1
BTK 1 0 0 0 1
C1GALT1C1 0 1 0 0 1
C1R 0 0 1 0 1
C3 0 0 1 0 1
CACNA1C 0 0 1 0 1
CACNA1H 0 0 1 0 1
CAD 0 0 1 0 1
CAD, LOC126806172 0 0 1 0 1
CD46 0 1 0 0 1
CDK19 0 0 1 0 1
CDK5RAP2 0 1 0 0 1
CEP104 0 0 1 0 1
CHD1L 0 0 1 0 1
CHD4 0 1 0 0 1
CHD7, LOC126860403 1 0 0 0 1
CHD8 0 1 0 0 1
CHKB, CHKB-CPT1B 0 1 0 0 1
CHRNG, TIGD1 1 0 0 0 1
CHST3 0 1 0 0 1
CLCN1 0 0 1 0 1
CLCN4 0 1 0 0 1
CNKSR2 0 1 0 0 1
COL11A1 0 1 0 0 1
COL11A2 1 0 0 0 1
COL1A1, LOC126862586 1 0 0 0 1
COL5A1, LOC101448202 0 0 1 0 1
COL5A2 0 1 0 0 1
COL6A1 1 0 0 0 1
COL6A2 0 1 0 0 1
COL6A3 0 0 1 0 1
CRTAP 0 0 1 0 1
CTC1 0 1 0 0 1
CTCF 1 0 0 0 1
CTNND1, TMX2-CTNND1 1 0 0 0 1
CUL3 0 1 0 0 1
CYP24A1 0 1 0 0 1
DEPDC5 0 1 0 0 1
DHDDS 0 1 0 0 1
DLG4 1 0 0 0 1
DLL4 0 0 1 0 1
DMP1, DSPP 1 0 0 0 1
DNAAF3 1 0 0 0 1
DNAI2 0 1 0 0 1
DNM1L 1 0 0 0 1
DNMT3A 1 0 0 0 1
DOK7 0 1 0 0 1
DSP 0 0 1 0 1
DYM 0 1 0 0 1
DYNC1H1 0 0 1 0 1
DYRK1A 1 0 0 0 1
EBP 1 0 0 0 1
ECHS1 0 1 0 0 1
EGR2 0 0 1 0 1
ENO3 0 0 1 0 1
ERCC6 1 0 0 0 1
ETFDH 0 0 1 0 1
EXOSC3 1 0 0 0 1
EXT2 0 1 0 0 1
EYA1 0 1 0 0 1
EZH2 1 0 0 0 1
FANCA, LOC130059837 0 0 1 0 1
FARS2 0 0 1 0 1
FAT1, LOC126807255 0 1 0 0 1
FBLN5 0 0 1 0 1
FBN1, LOC126862124 1 0 0 0 1
FBXO11 0 0 1 0 1
FBXO38 0 0 1 0 1
FDXR 0 1 0 0 1
FH 1 0 0 0 1
FKBP10 1 0 0 0 1
FKRP 0 1 0 0 1
FLNC 0 0 1 0 1
FXN 1 0 0 0 1
GAN 1 0 0 0 1
GJB1 0 1 0 0 1
GLS 0 0 1 0 1
GNA11 0 0 1 0 1
GNAS 1 0 0 0 1
GNG12, WLS 0 0 1 0 1
GNPTAB 0 0 1 0 1
GREB1L 0 0 1 0 1
GRHPR 0 1 0 0 1
GRIA3 0 1 0 0 1
GRIN2A 0 1 0 0 1
GRIN2B 0 0 1 0 1
HINT1 1 0 0 0 1
HIVEP2 1 0 0 0 1
HNF4A 0 0 1 0 1
HNRNPK 0 1 0 0 1
HPDL 0 1 0 0 1
HPRT1, LOC107032760, LOC129929047 1 0 0 0 1
HSPB1 0 1 0 0 1
HSPD1 0 0 1 0 1
IFIH1 0 0 0 1 1
IFT140, LOC126862260 0 1 0 0 1
IGF1R 0 1 0 0 1
INPPL1 0 0 1 0 1
INSR 0 1 0 0 1
IPO8 0 0 1 0 1
IQSEC2 0 0 1 0 1
KAT6A 1 0 0 0 1
KCNH1 0 0 0 1 1
KCNJ1 0 0 1 0 1
KCNQ1 0 0 1 0 1
KCNQ2 0 1 0 0 1
KCNT2 0 1 0 0 1
KDM6A 1 0 0 0 1
KIF1B 0 0 1 0 1
KIF26A 1 0 0 0 1
KMT2E, SRPK2 1 0 0 0 1
LAMA1 0 0 1 0 1
LAMB2 1 0 0 0 1
LDLR 0 1 0 0 1
LEFTY2 0 0 1 0 1
LOC100507346, PTCH1 0 1 0 0 1
LOC107303340, VHL 0 1 0 0 1
LOC107982234, WT1 1 0 0 0 1
LOC126859690, PKHD1 0 1 0 0 1
LOC129930352, P3H1 0 1 0 0 1
LOC129935184, TTN 1 0 0 0 1
LOC130002651, STXBP1 0 1 0 0 1
LOC132090497, PIGN 0 1 0 0 1
LRP5 0 1 0 0 1
LZTR1 0 0 1 0 1
MAGEL2 0 0 1 0 1
MAN1B1 0 0 1 0 1
MAP2K1 0 0 1 0 1
MARS1 0 0 1 0 1
MBD5 0 1 0 0 1
MC4R 0 1 0 0 1
MDH2 0 1 0 0 1
MEF2C 0 1 0 0 1
MEN1 0 1 0 0 1
MET 0 0 1 0 1
MIAT, MN1, PITPNB, TTC28 0 0 1 0 1
MME 0 0 1 0 1
MORC2 0 1 0 0 1
MPV17 0 1 0 0 1
MTMR2 1 0 0 0 1
MTRFR 1 0 0 0 1
MYH3 0 0 1 0 1
MYH7 1 0 0 0 1
MYPN 1 0 0 0 1
NAA15 0 1 0 0 1
NBAS 0 1 0 0 1
NDUFS6 0 1 0 0 1
NEXMIF 1 0 0 0 1
NFIX 0 1 0 0 1
NLGN3 0 1 0 0 1
NLGN4X 0 0 1 0 1
NOTCH2 0 1 0 0 1
NOTCH3 0 1 0 0 1
NPHP3, NPHP3-ACAD11 0 1 0 0 1
NR3C2 1 0 0 0 1
NSD1 1 0 0 0 1
NUP93 0 1 0 0 1
OBSCN 0 1 0 0 1
OCA2 0 1 0 0 1
OPHN1 1 0 0 0 1
OSGEP 0 0 1 0 1
P3H1 0 1 0 0 1
P4HB 0 0 1 0 1
PACS2 0 0 1 0 1
PAX6 1 0 0 0 1
PAX8 0 1 0 0 1
PCDH15 0 1 0 0 1
PCDH19 0 0 1 0 1
PDGFA 0 0 1 0 1
PDXK 0 1 0 0 1
PEX26 0 1 0 0 1
PHIP 0 1 0 0 1
PIGG 0 1 0 0 1
PKD1, TSC2 0 0 1 0 1
PLCE1 0 0 1 0 1
PLOD2 0 0 1 0 1
PLS3 1 0 0 0 1
POGZ 0 1 0 0 1
POLG 1 0 0 0 1
POLG, POLGARF 0 0 1 0 1
PPARG 1 0 0 0 1
PPM1D 0 0 1 0 1
PTPRO 0 0 1 0 1
RAF1 0 0 1 0 1
RARB 0 0 1 0 1
RBM10 0 1 0 0 1
RNASEH2A 0 1 0 0 1
ROBO4 0 0 1 0 1
RORB 1 0 0 0 1
RPGRIP1L 1 0 0 0 1
RUNX2 0 0 1 0 1
SACS 1 0 0 0 1
SALL1 0 1 0 0 1
SCN10A 0 0 1 0 1
SCN1A 0 1 0 0 1
SDHAF1 0 1 0 0 1
SDHD 0 0 1 0 1
SERPINF1 0 0 1 0 1
SETD1A 0 1 0 0 1
SH3TC2 1 0 0 0 1
SIN3A 1 0 0 0 1
SLC12A6 0 0 1 0 1
SLC12A9 0 0 1 0 1
SLC16A2 1 0 0 0 1
SLC2A2 1 0 0 0 1
SLC34A3 0 0 1 0 1
SLC3A1 1 0 0 0 1
SLC4A4 0 1 0 0 1
SLC5A7 0 0 1 0 1
SLC6A1 0 0 1 0 1
SMAD2 0 1 0 0 1
SMARCA2 0 1 0 0 1
SMN1 0 1 0 0 1
SON 1 0 0 0 1
SPG11 1 0 0 0 1
SPTBN2 0 1 0 0 1
SRCAP 0 0 1 0 1
STAT3 0 0 1 0 1
STRC 1 0 0 0 1
SUCLA2 0 1 0 0 1
SUZ12 0 0 1 0 1
SYNE1 1 0 0 0 1
SYNE2 0 0 1 0 1
SYNGAP1 0 0 1 0 1
TAF8 0 0 1 0 1
TAPBPL, VAMP1 1 0 0 0 1
TAPT1 0 0 1 0 1
TCF20 1 0 0 0 1
TCOF1 1 0 0 0 1
TGFBR2 0 1 0 0 1
TGM5 0 1 0 0 1
TLK2 0 1 0 0 1
TRIO 0 1 0 0 1
TSFM 0 0 1 0 1
TUBA1A 0 0 1 0 1
TUBB3 0 0 1 0 1
TUBB4A 0 1 0 0 1
UBE3B 1 0 0 0 1
UNC45B 0 0 1 0 1
USH1G 1 0 0 0 1
VCP 1 0 0 0 1
VHL 1 0 0 0 1
WAC 1 0 0 0 1
WNK4 0 0 1 0 1
WNT1 0 1 0 0 1
ZNF469 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 391
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 8 9 8 0 25
Marfan syndrome 7 8 5 0 20
O'Donnell-Luria-Rodan syndrome 8 9 0 0 17
X-linked Alport syndrome 4 10 2 0 16
Distal spinal muscular atrophy 0 0 9 0 9
Osteogenesis imperfecta type I 6 3 0 0 9
Autosomal dominant Alport syndrome 0 7 0 0 7
Polycystic kidney disease 2 1 1 5 0 7
CHARGE syndrome 3 3 0 0 6
Neurofibromatosis, type 1 1 3 2 0 6
Osteogenesis imperfecta 2 3 1 0 6
Osteogenesis imperfecta, perinatal lethal 2 4 0 0 6
Spectraplakinopathy type I 0 0 6 0 6
Autosomal recessive Alport syndrome 2 1 2 0 5
Coffin-Siris syndrome 1 3 2 0 0 5
Familial hypocalciuric hypercalcemia 1 0 0 5 0 5
Alport syndrome 1 3 0 0 4
Aneurysm-osteoarthritis syndrome 0 2 2 0 4
Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 1 3 0 0 4
Dilated cardiomyopathy 1G 0 3 1 0 4
Ehlers-Danlos syndrome, classic type, 1 1 1 2 0 4
Familial juvenile hyperuricemic nephropathy type 1 0 2 2 0 4
Hematuria, benign familial, 1 0 3 1 0 4
Hemolytic uremic syndrome, atypical, susceptibility to, 1 1 2 1 0 4
Motor axonal neuropathy 0 4 0 0 4
Nail-patella syndrome 2 1 1 0 4
Tuberous sclerosis 2 2 0 2 0 4
Aortic aneurysm, familial thoracic 6 0 2 1 0 3
Benign familial hematuria 0 3 0 0 3
Charcot-Marie-Tooth disease recessive intermediate A 3 0 0 0 3
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 1 2 0 0 3
Cystinuria 2 0 1 0 3
Developmental and epileptic encephalopathy, 29 0 2 1 0 3
Fanconi anemia complementation group A 1 1 1 0 3
Intellectual disability 1 1 1 0 3
Kabuki syndrome 1 3 0 0 0 3
Loeys-Dietz syndrome 4 0 1 2 0 3
Mandibulofacial dysostosis-microcephaly syndrome 0 3 0 0 3
Polycystic kidney disease 6 with or without polycystic liver disease 0 1 2 0 3
Proximal spinal muscular atrophy 0 0 3 0 3
See cases 0 0 3 0 3
8q24.3 microdeletion syndrome 0 1 1 0 2
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 1 0 0 1 2
Acromesomelic dysplasia 1, Maroteaux type 0 2 0 0 2
Alagille syndrome due to a JAG1 point mutation 0 1 1 0 2
Amyotrophic lateral sclerosis type 1 2 0 0 0 2
Aortic aneurysm, familial thoracic 7 0 0 2 0 2
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 1 1 0 0 2
Autosomal dominant slowed nerve conduction velocity 0 0 2 0 2
Autosomal recessive axonal hereditary motor and sensory neuropathy 0 0 2 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 18B 2 0 0 0 2
Autosomal recessive polycystic kidney disease 0 1 1 0 2
Bethlem myopathy 1A 1 1 0 0 2
Brachydactyly type A1 0 1 1 0 2
Brown-Vialetto-van Laere syndrome 2 1 1 0 0 2
Cardiomyopathy, familial restrictive, 1 0 0 2 0 2
Charcot-Marie-Tooth disease axonal type 2S 1 1 0 0 2
Charcot-Marie-Tooth disease dominant intermediate D 1 0 1 0 2
Charcot-Marie-Tooth disease type 4F 2 0 0 0 2
Cole-Carpenter syndrome 2 0 2 0 0 2
Complex cortical dysplasia with other brain malformations 2 0 0 1 1 2
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 1 1 0 0 2
Cornelia de Lange syndrome 1 0 1 1 0 2
Cystic fibrosis 2 0 0 0 2
Developmental and epileptic encephalopathy, 50 0 0 2 0 2
Distal arthrogryposis type 5D 0 2 0 0 2
Donnai-Barrow syndrome 2 0 0 0 2
Ehlers-Danlos syndrome due to tenascin-X deficiency 0 1 1 0 2
Epiphyseal dysplasia, multiple, 3 1 0 1 0 2
Exostoses, multiple, type 1 2 0 0 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 1 0 2
Familial hypokalemia-hypomagnesemia 1 0 1 0 2
GM3 synthase deficiency 1 1 0 0 2
Hereditary spastic paraplegia 15 1 1 0 0 2
Heterotaxy, visceral, 7, autosomal 0 1 1 0 2
Hyperphosphatasia with intellectual disability syndrome 3 0 2 0 0 2
Hyperuricemic nephropathy, familial juvenile type 3 1 1 0 0 2
Immunodeficiency, common variable, 12 0 2 0 0 2
Loeys-Dietz syndrome 1 0 2 0 0 2
Lymphatic malformation 12 1 1 0 0 2
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 1 1 0 2
Motor neuron disease 0 1 1 0 2
Nephropathic cystinosis 0 1 1 0 2
Neurodegeneration, childhood-onset, with cerebellar atrophy 1 1 0 0 2
Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 0 1 1 0 2
Ocular albinism, type I 2 0 0 0 2
Osteogenesis imperfecta type 8 0 2 0 0 2
Osteogenesis imperfecta with normal sclerae, dominant form 1 1 0 0 2
Polycystic kidney disease 4 0 2 0 0 2
Pontocerebellar hypoplasia type 2D 0 1 1 0 2
Pulmonary venoocclusive disease 1 1 1 0 0 2
Rauch-Steindl syndrome 0 1 1 0 2
Schimke immuno-osseous dysplasia 0 2 0 0 2
Seizures, benign familial infantile, 3 0 1 1 0 2
Senior-Loken syndrome 8 0 0 2 0 2
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1 0 1 0 2
Severe dermatitis-multiple allergies-metabolic wasting syndrome 0 2 0 0 2
Striatonigral degeneration, childhood-onset 0 0 2 0 2
Stuve-Wiedemann syndrome 0 1 1 0 2
Vissers-Bodmer syndrome 0 1 1 0 2
Von Hippel-Lindau syndrome 1 1 0 0 2
2-aminoadipic 2-oxoadipic aciduria 1 0 0 0 1
ALG1-congenital disorder of glycosylation 0 1 0 0 1
Abnormal protein O-linked glycosylation 0 1 0 0 1
Abnormality of the urinary system 0 0 1 0 1
Achondrogenesis type II 0 1 0 0 1
Acral peeling skin syndrome 0 1 0 0 1
Adams-Oliver syndrome 6 0 0 1 0 1
Adenylosuccinate lyase deficiency 0 1 0 0 1
Adult-onset proximal spinal muscular atrophy, autosomal dominant 0 0 1 0 1
Aicardi-Goutieres syndrome 4 0 1 0 0 1
Aicardi-Goutieres syndrome 6 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 0 0 1 1
Alagille syndrome due to a NOTCH2 point mutation 0 1 0 0 1
Allan-Herndon-Dudley syndrome 1 0 0 0 1
Alport syndrome 3b, autosomal recessive 1 0 0 0 1
Amyotrophic lateral sclerosis type 4 0 0 1 0 1
Amyotrophic lateral sclerosis type 6 1 0 0 0 1
Aniridia 1 1 0 0 0 1
Aortic valve disease 3 0 0 1 0 1
Arthrogryposis, distal, with impaired proprioception and touch 1 0 0 0 1
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 0 0 1 0 1
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 0 1 0 1
Atrial fibrillation, familial, 3 0 0 1 0 1
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 0 1
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 0 1 0 0 1
Au-Kline syndrome 0 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 1
Autism, susceptibility to, X-linked 1 0 1 0 0 1
Autism, susceptibility to, X-linked 2 0 0 1 0 1
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 1 0 0 0 1
Autosomal dominant intermediate Charcot-Marie-Tooth disease 0 0 1 0 1
Autosomal dominant pseudohypoaldosteronism type 1 1 0 0 0 1
Autosomal recessive ataxia, Beauce type 1 0 0 0 1
Autosomal recessive axonal neuropathy with neuromyotonia 1 0 0 0 1
Autosomal recessive distal spinal muscular atrophy 1 1 0 0 0 1
Autosomal recessive hypophosphatemic bone disease 0 0 1 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 16 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 18A 0 1 0 0 1
Autosomal recessive proximal renal tubular acidosis 0 1 0 0 1
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 0 1 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Bartter disease type 2 0 0 1 0 1
Birt-Hogg-Dube syndrome 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 1 0 1
Blepharocheilodontic syndrome 2 1 0 0 0 1
Bone mineral density quantitative trait locus 18 1 0 0 0 1
Branchiootorenal syndrome 1 0 1 0 0 1
Brittle cornea syndrome 1 0 0 1 0 1
Bruck syndrome 2 0 0 1 0 1
CTCF-related neurodevelopmental disorder 1 0 0 0 1
Cardiofaciocutaneous syndrome 3 0 0 1 0 1
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 1 0 0 1
Cerebroretinal microangiopathy with calcifications and cysts 1 0 1 0 0 1
Charcot-Marie-Tooth disease X-linked dominant 1 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2C 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2N 0 1 0 0 1
Charcot-Marie-Tooth disease axonal type 2O 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2Q 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2Z 0 1 0 0 1
Charcot-Marie-Tooth disease type 2 0 0 1 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Charcot-Marie-Tooth disease type 2D 0 0 1 0 1
Charcot-Marie-Tooth disease type 4B1 1 0 0 0 1
Charcot-Marie-Tooth disease type 4C 1 0 0 0 1
Charcot-Marie-Tooth disease type 4E 0 0 1 0 1
Charcot-Marie-Tooth disease, axonal, type 2EE 0 1 0 0 1
Charlevoix-Saguenay spastic ataxia 1 0 0 0 1
Chondrodysplasia punctata 2 X-linked dominant 1 0 0 0 1
Cleidocranial dysostosis 0 0 1 0 1
Cockayne syndrome type 2 1 0 0 0 1
Coffin-Siris syndrome 12 1 0 0 0 1
Cognitive impairment with or without cerebellar ataxia 0 1 0 0 1
Cole-Carpenter syndrome 1 0 0 1 0 1
Combined oxidative phosphorylation defect type 14 0 0 1 0 1
Congenital generalized lipodystrophy type 1 0 0 1 0 1
Congenital myasthenic syndrome 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 11 1 0 0 0 1
DYRK1A-related intellectual disability syndrome 1 0 0 0 1
DeSanto-Shinawi syndrome due to WAC point mutation 1 0 0 0 1
Dentinogenesis imperfecta type 2 1 0 0 0 1
Developmental and epileptic encephalopathy, 4 0 1 0 0 1
Developmental and epileptic encephalopathy, 51 0 1 0 0 1
Developmental and epileptic encephalopathy, 57 0 1 0 0 1
Developmental and epileptic encephalopathy, 66 0 0 1 0 1
Developmental and epileptic encephalopathy, 8 0 0 1 0 1
Developmental and epileptic encephalopathy, 87 0 0 1 0 1
Developmental and epileptic encephalopathy, 9 0 0 1 0 1
Developmental delay and seizures with or without movement abnormalities 0 1 0 0 1
Developmental delay with variable intellectual impairment and behavioral abnormalities 1 0 0 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 0 1 0 1
Diabetes insipidus, nephrogenic, X-linked 1 0 0 0 1
Diabetes insipidus, nephrogenic, autosomal 0 1 0 0 1
Dias-Logan syndrome 0 1 0 0 1
Dubin-Johnson syndrome 0 1 0 0 1
Early-onset myopathy with fatal cardiomyopathy 0 1 0 0 1
Ehlers-Danlos syndrome, classic type, 2 0 1 0 0 1
Ehlers-Danlos syndrome, classic-like, 2 0 0 1 0 1
Ehlers-Danlos syndrome, periodontal type 1 0 0 1 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 0 1 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 0 0 0 1
Epilepsy with myoclonic atonic seizures 0 0 1 0 1
Epilepsy, early-onset, 3, with or without developmental delay 0 1 0 0 1
Epilepsy, early-onset, with or without developmental delay; Neurodevelopmental disorder with speech impairment and dysmorphic facies 0 1 0 0 1
Epilepsy, familial focal, with variable foci 1 0 1 0 0 1
Epilepsy, idiopathic generalized, susceptibility to, 15 1 0 0 0 1
Episodic pain syndrome, familial, 2 0 0 1 0 1
Exostoses, multiple, type 2 0 1 0 0 1
FRAXE 0 1 0 0 1
Factor H deficiency 0 1 0 0 1
Familial hypocalciuric hypercalcemia 2 0 0 1 0 1
Fanconi-Bickel syndrome 1 0 0 0 1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 0 0 1 0 1
Fetal akinesia deformation sequence 3 0 1 0 0 1
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 0 0 1 0 1
Finnish congenital nephrotic syndrome 0 1 0 0 1
Floating-Harbor syndrome 0 0 1 0 1
Focal segmental glomerulosclerosis 1 0 0 1 0 1
Focal segmental glomerulosclerosis 8 0 0 1 0 1
Freeman-Sheldon syndrome 0 0 1 0 1
Friedreich ataxia 1 1 0 0 0 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 1 0 0 0 1
Galloway-Mowat syndrome 3 0 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 0 1
Giant axonal neuropathy 1 1 0 0 0 1
Glycogen storage disease due to muscle beta-enolase deficiency 0 0 1 0 1
Gorlin syndrome 0 1 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 1 0 0 1
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 0 0 1 0 1
Hepatic fibrosis; Splenomegaly; Delayed gross motor development 0 0 1 0 1
Hereditary leiomyomatosis and renal cell cancer 1 0 0 0 1
Hereditary spastic paraplegia 11 1 0 0 0 1
Hereditary spastic paraplegia 13 0 0 1 0 1
Hereditary spastic paraplegia 55 1 0 0 0 1
Hereditary spherocytosis type 1 0 1 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 0 1 0 1
Hyperaldosteronism, familial, type IV 0 0 1 0 1
Hypercalcemia, infantile, 1 0 1 0 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 1
Hypertrophic cardiomyopathy 26 0 0 1 0 1
Hypertrophic cardiomyopathy 9 0 0 0 1 1
Hypocalcemia 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 1 0 0 1
Hypothyroidism, congenital, nongoitrous, 2 0 1 0 0 1
Imagawa-Matsumoto syndrome 0 0 1 0 1
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 0 0 1 0 1
Infantile liver failure syndrome 2 0 1 0 0 1
Insulin-resistant diabetes mellitus AND acanthosis nigricans 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 1 0 0 1
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0 0 1 0 1
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 1 0 0 1
Intellectual developmental disorder, autosomal recessive 77 0 0 1 0 1
Intellectual disability, X-linked 1 0 0 1 0 1
Intellectual disability, X-linked 49 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 0 1
Intellectual disability, autosomal dominant 1 0 1 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 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 57 0 1 0 0 1
Intellectual disability, autosomal dominant 6 0 0 1 0 1
Intellectual disability, autosomal recessive 53 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 0 0 1
Joubert syndrome 7 1 0 0 0 1
KBG syndrome 1 0 0 0 1
Kabuki syndrome 2 1 0 0 0 1
Kugelberg-Welander disease 0 1 0 0 1
Landau-Kleffner syndrome 0 1 0 0 1
Lesch-Nyhan syndrome 1 0 0 0 1
Lethal multiple pterygium syndrome 1 0 0 0 1
Lissencephaly due to TUBA1A mutation 0 0 1 0 1
Loeys-Dietz syndrome 2 0 1 0 0 1
Loeys-Dietz syndrome 6 0 1 0 0 1
MYPN-related myopathy 1 0 0 0 1
Malan overgrowth syndrome 0 1 0 0 1
Maturity-onset diabetes of the young type 1 0 0 1 0 1
Metachromatic leukodystrophy 1 0 0 0 1
Microcephaly 3, primary, autosomal recessive 0 1 0 0 1
Microphthalmia, syndromic 12 0 0 1 0 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 1 0 1
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 0 0 1
Mitochondrial complex 2 deficiency, nuclear type 2 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 9 0 1 0 0 1
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 0 1 0 0 1
Mucolipidosis type II 0 0 1 0 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 1 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 1
Multiple epiphyseal dysplasia, Beighton type 1 0 0 0 1
Muscular dystrophy 0 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 0 0 1 0 1
Myofibrillar myopathy 11 0 0 1 0 1
Myosin storage myopathy 1 0 0 0 1
Nephronophthisis 3 0 1 0 0 1
Nephrotic syndrome, type 12 0 1 0 0 1
Nephrotic syndrome, type 3 0 0 1 0 1
Nephrotic syndrome, type 6 0 0 1 0 1
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 0 0 0 1
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 0 1 0 0 1
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with or without autism or seizures 0 1 0 0 1
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 0 1 0 0 1
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal dominant 8 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 4 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 2B 0 1 0 0 1
Neuronopathy, distal hereditary motor, type 5A 1 0 0 0 1
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy 0 1 0 0 1
Neuropathy, hereditary sensory, type 1F 0 1 0 0 1
Nicolaides-Baraitser syndrome 0 1 0 0 1
Noonan syndrome 10 0 0 1 0 1
Noonan syndrome 5 0 0 1 0 1
Ocular cystinosis 0 0 1 0 1
Oculocerebrofacial syndrome, Kaufman type 1 0 0 0 1
Oculofaciocardiodental syndrome 0 0 1 0 1
Opsismodysplasia 0 0 1 0 1
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0 1 0 0 1
Osteogenesis imperfecta type 11 1 0 0 0 1
Osteogenesis imperfecta type 15 0 1 0 0 1
Osteogenesis imperfecta type 6 0 0 1 0 1
Osteogenesis imperfecta type 7 0 0 1 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 1 0 0 0 1
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 0 0 1
PPARG-related familial partial lipodystrophy 1 0 0 0 1
Papillary renal cell carcinoma type 1 0 0 1 0 1
Partington syndrome 0 0 1 0 1
Peroxisome biogenesis disorder 7A (Zellweger) 0 1 0 0 1
Persistent hyperplastic primary vitreous, autosomal recessive 0 1 0 0 1
Pheochromocytoma 0 0 1 0 1
Pierson syndrome 1 0 0 0 1
Polyglandular autoimmune syndrome, type 1 0 1 0 0 1
Pontocerebellar hypoplasia type 1B 1 0 0 0 1
Postmenopausal osteoporosis 0 1 0 0 1
Primary ciliary dyskinesia 2 1 0 0 0 1
Primary ciliary dyskinesia 9 0 1 0 0 1
Primary hyperoxaluria, type I 0 1 0 0 1
Primary hyperoxaluria, type II 0 1 0 0 1
Progressive scapulohumeroperoneal distal myopathy 1 0 0 0 1
Pseudohypoaldosteronism type 2B 0 0 1 0 1
Pseudohypoparathyroidism type I A 1 0 0 0 1
Rafiq syndrome 0 0 1 0 1
Renal cysts and diabetes syndrome 1 0 0 0 1
Renal hypodysplasia/aplasia 3 0 0 1 0 1
Rhabdomyolysis, susceptibility to, 1 0 1 0 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 1 0 0 0 1
Saldino-Mainzer syndrome 0 1 0 0 1
Schaaf-Yang syndrome 0 0 1 0 1
Seizures, benign familial infantile, 5 0 1 0 0 1
Seizures, benign familial neonatal, 1 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 1 0 0 1
Short stature; Scoliosis; Recurrent fractures; Reduced bone mineral density; Abnormal long bone morphology 0 0 1 0 1
Sifrim-Hitz-Weiss syndrome 0 1 0 0 1
Smith-McCort dysplasia 1 0 1 0 0 1
Sotos syndrome 1 0 0 0 1
Spinal muscular atrophy, facioscapulohumeral type 1 0 0 0 1
Spinocerebellar ataxia type 5 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 1 0 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 1 0 0 1
Stickler syndrome type 2 0 1 0 0 1
Stickler syndrome, type I, nonsyndromic ocular 0 1 0 0 1
Syndromic X-linked intellectual disability 94 0 1 0 0 1
TARP syndrome 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 1
Temple-Baraitser syndrome 0 0 0 1 1
Timothy syndrome; Brugada syndrome 3; Long QT syndrome 8; Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 0 1 0 1
Townes-Brocks syndrome 1 0 1 0 0 1
Treacher Collins syndrome 1 1 0 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 1 0 0 1
Ullrich congenital muscular dystrophy 2 1 0 0 0 1
Usher syndrome type 1C 1 0 0 0 1
Usher syndrome type 1F 0 1 0 0 1
Usher syndrome type 1G 1 0 0 0 1
VISS syndrome 0 0 1 0 1
Weaver syndrome 1 0 0 0 1
Wilms tumor 1 1 0 0 0 1
X-linked agammaglobulinemia 1 0 0 0 1
X-linked distal spinal muscular atrophy type 3 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 1
X-linked intellectual disability-cerebellar hypoplasia syndrome 1 0 0 0 1
ZTTK syndrome 1 0 0 0 1
Zaki syndrome 0 0 1 0 1
autosomal recessive PIEZO2 associated disease 0 0 1 0 1
not specified 0 0 1 0 1

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