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:
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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
144 195 152 5 0 495

Gene and significance breakdown #

Total genes and gene combinations: 286
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 5 7 7 0 19
COL4A5 4 9 2 0 15
KMT2E 6 10 0 0 15
FBN1 3 7 3 0 13
COL1A1 6 4 1 0 11
COL1A2 3 6 0 0 9
COL4A4 1 7 1 0 9
PKD2 1 1 5 0 7
MACF1 0 0 6 0 6
TTN 0 4 1 1 6
ARID1B 3 2 0 0 5
CASR 1 0 4 0 5
CHD7 2 3 0 0 5
COL4A3, MFF-DT 1 4 0 0 5
AARS1 0 3 1 0 4
CFH 1 2 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
UMOD 0 2 2 0 4
COL2A1 1 2 0 0 3
CTNS 0 1 2 0 3
GARS1 1 0 2 0 3
GDAP1 3 0 0 0 3
KMT2D 3 0 0 0 3
MPZ 1 1 1 0 3
NF1 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
TSC2 2 0 1 0 3
ACTA2 0 1 1 0 2
AGTPBP1 1 1 0 0 2
ARHGEF10 0 0 2 0 2
BMPR2 1 1 0 0 2
CFTR 2 0 0 0 2
COL12A1 1 0 1 0 2
COL3A1 0 0 2 0 2
COL5A1 0 1 1 0 2
DHTKD1 1 0 1 0 2
DNAJB11 0 0 2 0 2
DSG1 0 2 0 0 2
ECEL1 0 2 0 0 2
EFTUD2 0 2 0 0 2
FANCA 1 1 0 0 2
FLCN 1 0 1 0 2
FUS 1 0 1 0 2
HNF1B 1 1 0 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
MMP21 0 1 1 0 2
NFKB1 0 2 0 0 2
NPR2 0 2 0 0 2
PGAP2 0 2 0 0 2
PHEX, PTCHD1 0 1 1 0 2
PNPLA8 0 1 1 0 2
POLG, POLGARF 1 0 1 0 2
PRX 2 0 0 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
TGFB2 0 0 2 0 2
TRPV4 1 0 1 0 2
USH1C 1 1 0 0 2
VPS13D 1 1 0 0 2
WDR19 0 0 2 0 2
ZFYVE26 1 1 0 0 2
ACTA1 1 0 0 0 1
ACTN4 0 0 1 0 1
ADAR 0 1 0 0 1
ADNP 0 0 0 1 1
ADPRS 1 0 0 0 1
AEBP1 0 0 1 0 1
AFF2 0 1 0 0 1
AGPAT2 0 0 1 0 1
AGXT 0 1 0 0 1
ALG1, EEF2KMT 0 1 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
ATAD3A 0 0 1 0 1
ATOH7 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
C1GALT1C1 0 1 0 0 1
C3 0 0 1 0 1
CACNA1H 0 0 1 0 1
CAPN3 1 0 0 0 1
CDK5RAP2 0 1 0 0 1
CHD1L 0 0 1 0 1
CHD4 0 1 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
COL11A2 1 0 0 0 1
COL1A1, LOC126862586 1 0 0 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
COL9A3 0 0 1 0 1
CRTAP 0 0 1 0 1
CYP24A1 0 1 0 0 1
DHDDS 0 1 0 0 1
DLG4 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
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
FXN 1 0 0 0 1
GAN 1 0 0 0 1
GLS 0 0 1 0 1
GNA11 0 0 1 0 1
GNAS 1 0 0 0 1
GNPTAB 0 0 1 0 1
GPR143 1 0 0 0 1
GREB1L, LOC101927521 0 0 1 0 1
GRHPR 0 1 0 0 1
GRIN2A 0 1 0 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
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
INPPL1 0 0 1 0 1
IPO8 0 0 1 0 1
KCNH1 0 0 0 1 1
KCNT2 0 1 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
LOC100507346, PTCH1 0 1 0 0 1
LOC107303340, VHL 0 1 0 0 1
LOC107982234, WT1 1 0 0 0 1
LOC129930352, P3H1 0 1 0 0 1
LOC129935184, TTN 1 0 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
MAP2K1 0 0 1 0 1
MARS1 0 0 1 0 1
MBD5 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
MYLK 0 0 1 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
NIPBL 0 0 1 0 1
NLGN3 0 1 0 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
NUP93 0 1 0 0 1
OCA2 0 1 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
PDXK 0 1 0 0 1
PEX26 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
PPARG 1 0 0 0 1
PUF60 0 0 1 0 1
RAF1 0 0 1 0 1
RARB 0 0 1 0 1
ROBO4 0 0 1 0 1
RORB 1 0 0 0 1
RUNX2 0 0 1 0 1
SACS 1 0 0 0 1
SALL1 0 1 0 0 1
SCN1A 0 1 0 0 1
SCN2A 0 0 1 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
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
SMARCA2 0 1 0 0 1
SMN1 0 1 0 0 1
SON 1 0 0 0 1
SPG11 1 0 0 0 1
SRCAP 0 0 1 0 1
STAT3 0 0 1 0 1
SUCLA2 0 1 0 0 1
SYNE1 1 0 0 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
TGFBR1 0 1 0 0 1
TGM5 0 1 0 0 1
TLK2 0 1 0 0 1
TNNI3 0 0 1 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
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
ZNF469 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 296
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 5 7 8 0 20
O'Donnell-Luria-Rodan syndrome 8 9 0 0 17
Marfan syndrome 4 7 3 0 14
X-linked Alport syndrome 3 7 2 0 12
Distal spinal muscular atrophy 0 0 9 0 9
Osteogenesis imperfecta type I 6 3 0 0 9
Polycystic kidney disease 2 1 1 5 0 7
Autosomal dominant Alport syndrome 0 6 0 0 6
Osteogenesis imperfecta 2 3 1 0 6
Spectraplakinopathy type I 0 0 6 0 6
CHARGE association 2 3 0 0 5
Coffin-Siris syndrome 1 3 2 0 0 5
Osteogenesis imperfecta, perinatal lethal 1 4 0 0 5
Alport syndrome 1 3 0 0 4
Aneurysm-osteoarthritis syndrome 0 2 2 0 4
Autosomal recessive Alport syndrome 2 1 1 0 4
Familial hypocalciuric hypercalcemia 1 0 0 4 0 4
Familial juvenile hyperuricemic nephropathy type 1 0 2 2 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
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
Dilated cardiomyopathy 1G 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
Neurofibromatosis, type 1 1 1 1 0 3
Proximal spinal muscular atrophy 0 0 3 0 3
Tuberous sclerosis 2 2 0 1 0 3
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 6 0 1 1 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 cerebellar ataxia-saccadic intrusion syndrome 1 1 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2J 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 18A 1 1 0 0 2
Autosomal recessive polycystic kidney disease 0 1 1 0 2
Bethlem myopathy 1A 1 1 0 0 2
Brown-Vialetto-van Laere syndrome 2 1 1 0 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
Cystic fibrosis 2 0 0 0 2
Distal arthrogryposis type 5D 0 2 0 0 2
Donnai-Barrow syndrome 2 0 0 0 2
Ehlers-Danlos syndrome, classic type, 1 0 1 1 0 2
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 1 1 0 2
Familial hypokalemia-hypomagnesemia 1 0 1 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 4 0 0 2 0 2
Mandibulofacial dysostosis-microcephaly syndrome 0 2 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
Osteogenesis imperfecta type 8 0 2 0 0 2
Polycystic kidney disease 6 with or without polycystic liver disease 0 0 2 0 2
Pontocerebellar hypoplasia type 2D 0 1 1 0 2
Pulmonary venoocclusive disease 1 1 1 0 0 2
Schimke immuno-osseous dysplasia 0 2 0 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
Stuve-Wiedemann 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
8q24.3 microdeletion syndrome 0 0 1 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 0 1 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
Adult-onset proximal spinal muscular atrophy, autosomal dominant 0 0 1 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
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 aneurysm, familial thoracic 7 0 0 1 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
Atypical hemolytic-uremic syndrome with C3 anomaly 0 0 1 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
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 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 proximal renal tubular acidosis 0 1 0 0 1
Bardet-Biedl syndrome 10 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 0 1
Birt-Hogg-Dube syndrome 1 0 0 1 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
Cardiofaciocutaneous syndrome 3 0 0 1 0 1
Cardiomyopathy, familial restrictive, 1 0 0 1 0 1
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 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 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
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
Cornelia de Lange syndrome 1 0 0 1 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
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 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
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
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, type 4 0 0 1 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 1 0 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, idiopathic generalized, susceptibility to, 15 1 0 0 0 1
Epiphyseal dysplasia, multiple, 3 0 0 1 0 1
Exostoses, multiple, type 2 0 1 0 0 1
FRAXE 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
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 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
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 9 0 0 0 1 1
Hypocalcemia 1 0 0 0 1
Hypothyroidism, congenital, nongoitrous, 2 0 1 0 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
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, autosomal dominant 63, with macrocephaly 0 1 0 0 1
Intellectual disability, autosomal dominant 1 0 1 0 0 1
Intellectual disability, autosomal dominant 20 0 1 0 0 1
Intellectual disability, autosomal dominant 43 1 0 0 0 1
Intellectual disability, autosomal dominant 57 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 0 1 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 1 0 1 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
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 0 1 0 0 1
Mitochondrial complex 1 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-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
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 1 0 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
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 albinism, type I 1 0 0 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 6 0 0 1 0 1
Osteogenesis imperfecta type 7 0 0 1 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 1 0 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 1 0 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
Polycystic kidney disease 4 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
Renal hypodysplasia/aplasia 3 0 0 1 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, 3 0 0 1 0 1
Seizures, benign familial infantile, 5 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
Spinal muscular atrophy, facioscapulohumeral type 1 0 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 I, nonsyndromic ocular 0 1 0 0 1
Tatton-Brown-Rahman overgrowth syndrome 1 0 0 0 1
Temple-Baraitser syndrome 0 0 0 1 1
Townes-Brocks syndrome 1 0 1 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 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 distal spinal muscular atrophy type 3 0 1 0 0 1
X-linked intellectual disability, Cantagrel type 1 0 0 0 1
ZTTK syndrome 1 0 0 0 1
autosomal recessive PIEZO2 associated disease 0 0 1 0 1
not specified 0 0 1 0 1

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