ClinVar Miner

Variants from Broad Institute Rare Disease Group,Broad Institute

Location: United States — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
127 161 206 0 7 500

Gene and significance breakdown #

Total genes and gene combinations: 268
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
CAPN3 11 10 8 0 29
KMT2E 0 13 13 0 26
DYSF 4 10 10 0 24
TTN 9 1 6 0 16
ANO5 3 2 3 0 8
CPLANE1 4 2 2 0 8
TMEM67 2 3 3 0 8
RPGRIP1 4 2 1 0 7
ABCA4 1 3 2 0 6
KMT2E, SRPK2 0 2 4 0 6
NPHS1 1 1 4 0 6
ASTN2, TRIM32 1 0 4 0 5
CEP290 0 4 1 0 5
RYR1 0 3 2 0 5
USH2A 3 1 1 0 5
BBS2 0 2 2 0 4
CASK 1 3 0 0 4
CLN6 1 0 3 0 4
NEB 0 3 1 0 4
SPG11 2 1 0 1 4
AHI1 0 0 3 0 3
ASPM 2 1 0 0 3
NUP93 0 0 3 0 3
PKD1 0 1 2 0 3
POMT2 0 2 1 0 3
SGCA 2 0 1 0 3
SGCG 2 1 0 0 3
TUBA1A 2 1 0 0 3
ALDH3A2 2 0 0 0 2
ALG1 1 0 1 0 2
ARHGEF18 0 0 2 0 2
ASNS, CZ1P-ASNS 0 1 1 0 2
ASPA, SPATA22 1 0 1 0 2
ATRX 0 1 1 0 2
BET1 0 0 2 0 2
C1QTNF5, MFRP 0 1 1 0 2
CC2D2A 0 0 2 0 2
CHD7 2 0 0 0 2
COL4A5 0 2 0 0 2
COL6A3 0 1 1 0 2
COQ2 0 0 2 0 2
CRB1 0 2 0 0 2
EXOSC8 0 0 2 0 2
FAT4 0 0 2 0 2
FLNC 0 0 2 0 2
GLDN 0 1 1 0 2
HSPG2 1 0 1 0 2
INCA1, KIF1C 0 0 2 0 2
LAMC3 0 0 2 0 2
LMNA 0 1 1 0 2
LONP1 0 0 2 0 2
LYST 0 0 2 0 2
MGAT2 0 0 2 0 2
MLC1 0 0 2 0 2
MYBPC3 0 2 0 0 2
MYMK 0 1 1 0 2
NEB, RIF1 1 0 1 0 2
NPC1 0 0 2 0 2
NPHP3, NPHP3-ACAD11 2 0 0 0 2
NPHP3-ACAD11, UBA5 1 0 1 0 2
NPHS2 2 0 0 0 2
PAFAH1B1 1 1 0 0 2
PKHD1 2 0 0 0 2
PLA2G6 0 1 1 0 2
PNPT1 0 2 0 0 2
POMK 0 0 2 0 2
PPT1 0 1 0 1 2
PSAP 1 0 1 0 2
SDCCAG8 1 1 0 0 2
SGCB 1 0 1 0 2
SLC12A3 0 1 1 0 2
SMARCAL1 1 0 1 0 2
SPTB 0 1 1 0 2
SZT2 0 0 2 0 2
TBCD 0 0 2 0 2
TCTN1 0 0 2 0 2
TMEM237 0 2 0 0 2
TPM1 0 0 2 0 2
TTC21B 1 0 1 0 2
VLDLR 0 1 1 0 2
VPS13B 1 1 0 0 2
​intergenic 1 0 0 0 1
ABCB7 0 0 1 0 1
ABCD1 0 1 0 0 1
ACTG2 1 0 0 0 1
ADAT3, SCAMP4 1 0 0 0 1
AGXT 1 0 0 0 1
AHDC1 0 0 1 0 1
ALS2 0 1 0 0 1
AMPD2 0 1 0 0 1
AP3B2, CPEB1 0 1 0 0 1
AP4E1 0 1 0 0 1
ARID1A 0 1 0 0 1
ARID1B 0 1 0 0 1
ARSA 1 0 0 0 1
ARX 0 1 0 0 1
ASIC4, SPEG 0 1 0 0 1
ASXL3 1 0 0 0 1
ATM, C11orf65 0 0 1 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 1 1
ATP6V0A2 0 0 1 0 1
ATP8A2 0 1 0 0 1
ATPAF2 0 0 1 0 1
ATXN7L1, BCAP29, CBLL1, CCDC71L, CDHR3, COG5, DUS4L, GPR22, HBP1, KMT2E, LHFPL3, NAMPT, PIK3CG, PRKAR2B, PUS7, RINT1, SLC26A3, SLC26A4, SRPK2, SYPL1 1 0 0 0 1
ATXN7L1, KMT2E, LHFPL3, ORC5, PUS7, RELN, RINT1, SRPK2 0 1 0 0 1
ATXN7L1, KMT2E, LHFPL3, ORC5, PUS7, RINT1, SRPK2 0 1 0 0 1
B3GALNT2 0 0 1 0 1
B4GALNT1 1 0 0 0 1
BAG3 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 1
BBS5 0 1 0 0 1
BLM 1 0 0 0 1
CACNA1A 1 0 0 0 1
CCND2 1 0 0 0 1
CDK10 0 1 0 0 1
CEP104 0 0 1 0 1
CHST3 0 0 1 0 1
CLCN5 0 0 1 0 1
CLN5, FBXL3 1 0 0 0 1
CLP1 1 0 0 0 1
CNTNAP1 0 0 1 0 1
COG5 0 0 1 0 1
COL6A1 0 1 0 0 1
COLQ 0 1 0 0 1
CRPPA 0 0 1 0 1
CRX 0 0 0 1 1
CWF19L1 0 1 0 0 1
CYP2U1 0 0 1 0 1
CYP7B1 0 0 1 0 1
DCX 0 1 0 0 1
DDC 0 0 1 0 1
DES 0 0 1 0 1
DIAPH1 0 1 0 0 1
DMD 0 1 0 0 1
DNAJB6 0 0 1 0 1
DNAJC21 0 0 1 0 1
EBF3 1 0 0 0 1
EIF2AK2 0 0 1 0 1
EPCAM 1 0 0 0 1
ERCC6L2 0 0 1 0 1
EXOSC3 1 0 0 0 1
FAM126A 0 1 0 0 1
FBXL4 0 1 0 0 1
FKBP14 0 1 0 0 1
FKRP 1 0 0 0 1
FRMPD4 0 0 1 0 1
FUCA1 0 1 0 0 1
G6PD 1 0 0 0 1
GAA 1 0 0 0 1
GALC 0 0 1 0 1
GH-LCR, SCN4A 0 0 0 1 1
GJC2 0 0 1 0 1
GNAO1 0 1 0 0 1
GNAS 0 1 0 0 1
GRIN1 0 0 1 0 1
H1-4 0 1 0 0 1
HIBCH 0 0 1 0 1
HK1 0 1 0 0 1
HNF1B 1 0 0 0 1
HOXB1 0 0 1 0 1
HR 0 0 0 1 1
IDUA 1 0 0 0 1
IDUA, SLC26A1 1 0 0 0 1
IFIH1 1 0 0 0 1
IFT140 0 0 1 0 1
IFT140, LOC105371046 0 0 1 0 1
INPP5E 0 0 1 0 1
ITPR1 1 0 0 0 1
KCNB1 0 1 0 0 1
KDM5C 0 1 0 0 1
KIF11 1 0 0 0 1
KIF1A 0 1 0 0 1
LAMA2 0 1 0 0 1
LAMB2 0 0 1 0 1
LIX1L, RBM8A 1 0 0 0 1
MAFB 0 1 0 0 1
MCOLN1 0 0 1 0 1
MECOM 0 0 1 0 1
MEFV 1 0 0 0 1
MFSD8 0 1 0 0 1
MHRT, MYH7 0 0 1 0 1
MOCS2 0 0 1 0 1
MYH7 0 0 1 0 1
NALCN 0 1 0 0 1
NDUFA12 0 0 1 0 1
NDUFAF6 0 0 1 0 1
NDUFV1 0 1 0 0 1
NHLRC1 0 1 0 0 1
NKX2-5 0 0 0 1 1
NSUN2 0 1 0 0 1
OCLN 0 0 1 0 1
OFD1 1 0 0 0 1
PAX2 1 0 0 0 1
PCDH19 1 0 0 0 1
PCGF2 0 1 0 0 1
PCLO 0 1 0 0 1
PEX16 0 0 1 0 1
PGAP3 1 0 0 0 1
PHGDH 0 0 1 0 1
PLCB1 0 1 0 0 1
PLCB4 0 1 0 0 1
PLCE1 0 1 0 0 1
PMM2 1 0 0 0 1
PNKP 0 0 1 0 1
POC1B 1 0 0 0 1
POMGNT1, TSPAN1 1 0 0 0 1
POMT1 1 0 0 0 1
PORCN 1 0 0 0 1
PRPF31 0 0 1 0 1
PRPS1 0 0 1 0 1
PRUNE1 0 0 1 0 1
PTPN11 1 0 0 0 1
PYCR2 1 0 0 0 1
RAB3GAP1 1 0 0 0 1
RARS1 1 0 0 0 1
RERE 0 0 1 0 1
RGS9 0 0 1 0 1
RHO 0 1 0 0 1
RIT1 1 0 0 0 1
RNASEH2B 1 0 0 0 1
RNASET2 0 0 1 0 1
RPGR 0 1 0 0 1
RPGRIP1L 0 1 0 0 1
RPS29 0 0 1 0 1
SAMD9L 0 0 1 0 1
SAMHD1 0 1 0 0 1
SEPSECS 0 0 1 0 1
SHANK3 1 0 0 0 1
SHOC2 0 0 1 0 1
SLC16A2 0 0 1 0 1
SLC19A3 0 0 1 0 1
SLC25A22 0 1 0 0 1
SLC25A4 0 1 0 0 1
SLC2A1 0 1 0 0 1
SLC35C1 0 0 1 0 1
SLC39A8 0 0 1 0 1
SMAD4 1 0 0 0 1
SNRNP200 0 1 0 0 1
SNX14 0 1 0 0 1
SPEG 0 1 0 0 1
SPR 0 0 1 0 1
SPTA1 0 0 1 0 1
SRCAP 0 0 1 0 1
STAC3 1 0 0 0 1
SURF1 0 1 0 0 1
TACO1 0 1 0 0 1
TAF1 0 0 1 0 1
TANGO2 0 1 0 0 1
TCAP 0 1 0 0 1
THOC2 0 1 0 0 1
TMEM231 0 0 1 0 1
TNNI3 0 1 0 0 1
TNNT2 0 1 0 0 1
TP63 0 0 1 0 1
TPP1 1 0 0 0 1
TRPM1 0 1 0 0 1
TSEN54 1 0 0 0 1
TUBB2A 0 0 1 0 1
TUBG1 0 0 1 0 1
UNC80 0 1 0 0 1
VDR 0 0 1 0 1
VPS11 0 0 1 0 1
VRK1 0 0 1 0 1
WDR73 0 1 0 0 1
WT1 1 0 0 0 1
WWOX 0 0 1 0 1
YARS2 0 1 0 0 1
ZBTB18 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 261
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Condition pathogenic likely pathogenic uncertain significance benign total
See cases 1 17 17 0 35
Limb-girdle muscular dystrophy, type 2A 11 10 8 0 29
Limb-girdle muscular dystrophy, type 2B 4 10 10 0 24
Limb-girdle muscular dystrophy, type 2J 9 1 4 0 14
Joubert syndrome 17 4 2 2 0 8
Joubert syndrome 6 2 3 3 0 8
Limb-girdle muscular dystrophy, type 2L 3 2 3 0 8
Leber congenital amaurosis 6 4 2 1 0 7
not specified 0 0 0 7 7
Finnish congenital nephrotic syndrome 1 1 4 0 6
Nemaline myopathy 2 1 3 2 0 6
Myopathy, Central Core 0 3 2 0 5
Sarcotubular myopathy 1 0 4 0 5
Autosomal recessive polycystic kidney disease 2 0 2 0 4
Ceroid lipofuscinosis neuronal 6 1 0 3 0 4
Cone-rod dystrophy 3 1 1 2 0 4
Limb-girdle muscular dystrophy, type 2D 3 0 1 0 4
Mental retardation and microcephaly with pontine and cerebellar hypoplasia 1 3 0 0 4
Joubert syndrome 3 0 0 3 0 3
Joubert syndrome 5 0 3 0 0 3
Leigh syndrome 0 1 2 0 3
Nephrotic syndrome, type 12 0 0 3 0 3
Primary autosomal recessive microcephaly 5 2 1 0 0 3
Severe autosomal recessive muscular dystrophy of childhood - North African type 2 1 0 0 3
Spastic paraplegia 11, autosomal recessive 2 1 0 0 3
Ullrich congenital muscular dystrophy 1 0 2 1 0 3
Usher syndrome, type 2A 2 0 1 0 3
Adolescent nephronophthisis 2 0 0 0 2
Alport syndrome 1, X-linked recessive 0 2 0 0 2
Asparagine synthetase deficiency 0 1 1 0 2
Ataxia, spastic, 2, autosomal recessive 0 0 2 0 2
Bardet-Biedl syndrome 16 1 1 0 0 2
Bardet-Biedl syndrome 2 0 1 1 0 2
CODAS syndrome 0 0 2 0 2
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 0 1 1 0 2
Chédiak-Higashi syndrome 0 0 2 0 2
Coenzyme Q10 deficiency, primary 1 0 0 2 0 2
Cohen syndrome 1 1 0 0 2
Combined oxidative phosphorylation deficiency 13 0 2 0 0 2
Congenital disorder of glycosylation type 1K 1 0 1 0 2
Congenital disorder of glycosylation, type IIa 0 0 2 0 2
Congenital nonprogressive myopathy with Moebius and Robin sequences 0 1 1 0 2
Early infantile epileptic encephalopathy 18 0 0 2 0 2
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 0 0 2 0 2
Epileptic encephalopathy, early infantile, 44 1 0 1 0 2
Familial hypertrophic cardiomyopathy 3 0 0 2 0 2
Familial hypertrophic cardiomyopathy 4 0 2 0 0 2
Familial hypokalemia-hypomagnesemia 0 1 1 0 2
Glycogen storage disease, type II 2 0 0 0 2
Infantile neuroaxonal dystrophy 0 1 1 0 2
Joubert syndrome 13 0 0 2 0 2
Joubert syndrome 14 0 2 0 0 2
Joubert syndrome 9 0 0 2 0 2
Late-onset retinal degeneration 0 1 1 0 2
Leber congenital amaurosis 10 0 1 1 0 2
Leber congenital amaurosis 8 0 2 0 0 2
Lethal congenital contracture syndrome 11 0 1 1 0 2
Limb-girdle muscular dystrophy, type 2E 1 0 1 0 2
Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 0 2 0 0 2
Lissencephaly 1 1 1 0 0 2
Lissencephaly 3 1 1 0 0 2
Megalencephalic leukoencephalopathy with subcortical cysts 1 0 0 2 0 2
Mental retardation-hypotonic facies syndrome X-linked, 1 0 1 1 0 2
Mucopolysaccharidosis, MPS-I-H/S 2 0 0 0 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12 0 0 2 0 2
Myopathy, centronuclear, 5 0 2 0 0 2
Myopathy, distal, 1 0 0 2 0 2
Myopathy, early-onset, with fatal cardiomyopathy 0 0 2 0 2
Neonatal death 0 0 2 0 2
Nephronophthisis 12 1 0 1 0 2
Nephrotic syndrome, idiopathic, steroid-resistant 2 0 0 0 2
Niemann-Pick disease type C1 0 0 2 0 2
Pontocerebellar hypoplasia, type 1c 0 0 2 0 2
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia 0 0 2 0 2
Retinitis pigmentosa 39 1 1 0 0 2
Retinitis pigmentosa 74 0 1 1 0 2
Retinitis pigmentosa 78 0 0 2 0 2
Schimke immunoosseous dysplasia 1 0 1 0 2
Schwartz Jampel syndrome type 1 1 0 1 0 2
Seizures; Progressive muscle weakness 0 0 2 0 2
Sjögren-Larsson syndrome 2 0 0 0 2
Spastic paraplegia 5A 0 0 2 0 2
Spherocytosis type 2 0 1 1 0 2
Spongy degeneration of central nervous system 1 0 1 0 2
Stargardt disease 1 0 2 0 0 2
Van Maldergem syndrome 2 0 0 2 0 2
22q13.3 deletion syndrome 1 0 0 0 1
AL KAISSI SYNDROME 0 1 0 0 1
Abnormality of the outer ear; Intellectual disability 0 1 0 0 1
Adrenoleukodystrophy 0 1 0 0 1
Aicardi Goutieres syndrome 2 1 0 0 0 1
Aicardi Goutieres syndrome 5 0 1 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 1
Allan-Herndon-Dudley syndrome 0 0 1 0 1
Anemia sideroblastic and spinocerebellar ataxia 0 0 1 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 1
Arts syndrome 0 0 1 0 1
Ataxia-telangiectasia syndrome 0 0 1 0 1
Auriculocondylar syndrome 2 0 1 0 0 1
Bainbridge-Ropers syndrome 1 0 0 0 1
Bardet-Biedl syndrome 1 0 0 0 1
Bardet-Biedl syndrome 5 0 1 0 0 1
Beta-hydroxyisobutyryl-CoA deacylase deficiency 0 0 1 0 1
Biotin-thiamine-responsive basal ganglia disease 0 0 1 0 1
Bloom syndrome 1 0 0 0 1
Bone marrow failure syndrome 2 0 0 1 0 1
Bone marrow failure syndrome 3 0 0 1 0 1
Bradyopsia 0 0 1 0 1
CHARGE association 1 0 0 0 1
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 0 0 1 0 1
Cardiomyopathy, familial hypertrophic, 26 0 0 1 0 1
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 0 1 0 0 1
Ceroid lipofuscinosis neuronal 1 0 1 0 0 1
Ceroid lipofuscinosis neuronal 2 1 0 0 0 1
Ceroid lipofuscinosis neuronal 5 1 0 0 0 1
Ceroid lipofuscinosis neuronal 7 0 1 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 1
Combined saposin deficiency 1 0 0 0 1
Cone-rod dystrophy 20 1 0 0 0 1
Congenital disorder of glycosylation type 2C 0 0 1 0 1
Congenital disorder of glycosylation type 2i 0 0 1 0 1
Congenital disorder of glycosylation, type Ia 1 0 0 0 1
Congenital muscular dystrophy, LMNA-related 0 1 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 1 0 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 0 0 1 0 1
Congenital stationary night blindness, type 1C 0 1 0 0 1
Cortical dysplasia, complex, with other brain malformations 4 0 0 1 0 1
Cortical dysplasia, complex, with other brain malformations 5 0 0 1 0 1
Cutis laxa with osteodystrophy 0 0 1 0 1
Deficiency of aromatic-L-amino-acid decarboxylase 0 0 1 0 1
Diamond-Blackfan anemia 13 0 0 1 0 1
Diarrhea 5, with tufting enteropathy, congenital 1 0 0 0 1
Diffuse mesangial sclerosis 1 0 0 0 1
Duchenne muscular dystrophy 0 1 0 0 1
Early infantile epileptic encephalopathy 10 0 0 1 0 1
Early infantile epileptic encephalopathy 12 0 1 0 0 1
Early infantile epileptic encephalopathy 17 0 1 0 0 1
Early infantile epileptic encephalopathy 9 1 0 0 0 1
Early myoclonic encephalopathy 0 1 0 0 1
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 0 1 0 0 1
Elliptocytosis 2; Spherocytosis type 2 0 0 1 0 1
Endplate acetylcholinesterase deficiency 0 1 0 0 1
Epileptic encephalopathy, early infantile, 1 0 1 0 0 1
Epileptic encephalopathy, early infantile, 26 0 1 0 0 1
Epileptic encephalopathy, early infantile, 28 0 0 1 0 1
Epileptic encephalopathy, early infantile, 42 1 0 0 0 1
Epileptic encephalopathy, early infantile, 48 0 1 0 0 1
Familial hypertrophic cardiomyopathy 2 0 1 0 0 1
Familial hypertrophic cardiomyopathy 7 0 1 0 0 1
Familial hypoplastic, glomerulocystic kidney 1 0 0 0 1
Familial mediterranean fever, autosomal dominant 1 0 0 0 1
Floating-Harbor syndrome 0 0 1 0 1
Focal dermal hypoplasia 1 0 0 0 1
Focal segmental glomerulosclerosis 7 1 0 0 0 1
Fucosidosis 0 1 0 0 1
GLUT1 deficiency syndrome 1 0 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 1
Galloway-Mowat syndrome 1 0 1 0 0 1
Global developmental delay; Leukoencephalopathy; Developmental regression 0 0 1 0 1
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 0 1 0 0 1
Hereditary congenital facial paresis 3 0 0 1 0 1
Hyperphosphatasia with mental retardation syndrome 4 1 0 0 0 1
Hypomyelination and Congenital Cataract 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 1 0 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 0 1
Infantile-onset ascending hereditary spastic paralysis 0 1 0 0 1
Joubert syndrome 1 0 0 1 0 1
Joubert syndrome 10 1 0 0 0 1
Joubert syndrome 25 0 0 1 0 1
Joubert syndrome 7 0 1 0 0 1
Kallmann syndrome 5 1 0 0 0 1
Lafora disease 0 1 0 0 1
Lethal congenital contracture syndrome 7 0 0 1 0 1
Leukodystrophy, hypomyelinating, 10 1 0 0 0 1
Leukodystrophy, hypomyelinating, 12 0 0 1 0 1
Leukodystrophy, hypomyelinating, 2 0 0 1 0 1
Leukodystrophy, hypomyelinating, 9 1 0 0 0 1
Leukoencephalopathy, cystic, without megalencephaly 0 0 1 0 1
Limb-girdle muscular dystrophy, type 1B 0 0 1 0 1
Limb-girdle muscular dystrophy, type 1E 0 0 1 0 1
Limb-girdle muscular dystrophy, type 2G 0 1 0 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 1 0 0 0 1
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 1 0 0 0 1
Lissencephaly, X-linked 0 1 0 0 1
METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 0 1 0 0 1
Meckel syndrome, type 11 0 0 1 0 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 1 0 0 0 1
Mental retardation, X-linked 104 0 0 1 0 1
Mental retardation, X-linked 12 0 1 0 0 1
Mental retardation, X-linked, syndromic 33 0 0 1 0 1
Mental retardation, autosomal dominant 14 0 1 0 0 1
Mental retardation, autosomal dominant 22 0 0 1 0 1
Mental retardation, autosomal dominant 9 0 1 0 0 1
Mental retardation, autosomal recessive 36 1 0 0 0 1
Mental retardation, autosomal recessive 5 0 1 0 0 1
Mental retardation, syndromic, Claes-Jensen type, X-linked 0 1 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 0 0 1
Metachromatic leukodystrophy 1 0 0 0 1
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1 0 0 0 1
Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant 0 1 0 0 1
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 0 1 0 0 1
Mitochondrial complex I deficiency, nuclear type 1 0 1 0 0 1
Molybdenum cofactor deficiency, complementation group B 0 0 1 0 1
Multicentric osteolysis nephropathy 0 1 0 0 1
Muscular dystrophy 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 1 0 1
Myelocerebellar disorder 0 0 1 0 1
Myhre syndrome 1 0 0 0 1
Myofibrillar myopathy 1 0 0 1 0 1
Myofibrillar myopathy, BAG3-related 1 0 0 0 1
Myopathy, distal, 4 0 0 1 0 1
Myopathy, lactic acidosis, and sideroblastic anemia 2 0 1 0 0 1
Native American myopathy 1 0 0 0 1
Nephrotic syndrome, type 3 0 1 0 0 1
Nephrotic syndrome, type 5, with or without ocular abnormalities 0 0 1 0 1
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 0 0 1 0 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 1 0 1
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 0 0 1 0 1
Noonan syndrome 1 1 0 0 0 1
Noonan syndrome 8 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 0 0 1 0 1
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 0 0 1 0 1
Peroxisome biogenesis disorder 8A 0 0 1 0 1
Phosphoglycerate dehydrogenase deficiency 0 0 1 0 1
Polycystic kidney disease, adult type 0 1 0 0 1
Pontocerebellar hypoplasia type 1A 0 0 1 0 1
Pontocerebellar hypoplasia type 2A 1 0 0 0 1
Pontocerebellar hypoplasia type 2D 0 0 1 0 1
Pontocerebellar hypoplasia type 3 0 1 0 0 1
Pontocerebellar hypoplasia, type 10 1 0 0 0 1
Pontocerebellar hypoplasia, type 1b 1 0 0 0 1
Pontocerebellar hypoplasia, type 9 0 1 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 1
Pseudo-TORCH syndrome 1 0 0 1 0 1
Pseudopseudohypoparathyroidism 0 1 0 0 1
RAHMAN SYNDROME 0 1 0 0 1
Radial aplasia-thrombocytopenia syndrome 1 0 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 1 0 1
Renal-hepatic-pancreatic dysplasia 1 1 0 0 0 1
Retinitis pigmentosa 11 0 0 1 0 1
Retinitis pigmentosa 15 0 1 0 0 1
Retinitis pigmentosa 33 0 1 0 0 1
Retinitis pigmentosa 4 0 1 0 0 1
Retinitis pigmentosa 79 0 1 0 0 1
Robin sequence 1 0 0 0 1
Seizures, cortical blindness, and microcephaly syndrome 0 1 0 0 1
Sepiapterin reductase deficiency 0 0 1 0 1
Spastic paraplegia 26 1 0 0 0 1
Spastic paraplegia 51, autosomal recessive 0 1 0 0 1
Spastic paraplegia 56, autosomal recessive 0 0 1 0 1
Sphingolipid activator protein 1 deficiency 0 0 1 0 1
Spinocerebellar ataxia 29 1 0 0 0 1
Spinocerebellar ataxia, autosomal recessive 17 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 20 0 1 0 0 1
Spondyloepiphyseal dysplasia with congenital joint dislocations 0 0 1 0 1
Visceral myopathy 1 0 0 0 1
Vitamin D-dependent rickets, type 2 0 0 1 0 1
Warburg micro syndrome 1 1 0 0 0 1
X-linked recessive nephrolithiasis with renal failure 0 0 1 0 1
Xia-Gibbs syndrome 0 0 1 0 1

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