ClinVar Miner

Variants from Broad Institute Rare Disease Group,Broad Institute

Location: United States — Primary collection method: research
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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
43 51 55 0 7 156

Gene and significance breakdown #

Total genes and gene combinations: 114
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
ANO5 2 1 2 0 5
TTN 1 0 4 0 5
TMEM67 1 1 2 0 4
USH2A 3 1 0 0 4
CEP290 0 3 0 0 3
CPLANE1 0 1 2 0 3
NPHS1 1 1 1 0 3
RYR1 0 3 0 0 3
AHI1 0 0 2 0 2
ATRX 0 1 1 0 2
BBS2 0 1 1 0 2
BET1 0 0 2 0 2
COL6A3 0 1 1 0 2
MGAT2 0 0 2 0 2
NPHP3, NPHP3-ACAD11 2 0 0 0 2
NPHP3-ACAD11, UBA5 1 0 1 0 2
PAFAH1B1 1 1 0 0 2
PKD1 0 0 2 0 2
PKHD1 2 0 0 0 2
PNPT1 0 2 0 0 2
PPT1 0 1 0 1 2
SDCCAG8 1 1 0 0 2
SMARCAL1 1 0 1 0 2
TBCD 0 0 2 0 2
TCTN1 0 0 2 0 2
TMEM237 0 2 0 0 2
TTC21B 1 0 1 0 2
TUBA1A 1 1 0 0 2
​intergenic 1 0 0 0 1
ACTG2 1 0 0 0 1
ADAT3, SCAMP4 1 0 0 0 1
AGXT 1 0 0 0 1
ALDH3A2 1 0 0 0 1
AP4E1 0 1 0 0 1
ARID1A 0 1 0 0 1
ARID1B 0 1 0 0 1
ARX 0 1 0 0 1
ASNS, CZ1P-ASNS 0 0 1 0 1
ASPM 0 1 0 0 1
ASTN2, TRIM32 0 0 1 0 1
ASXL3 1 0 0 0 1
ATP5MF-PTCD1, PTCD1 0 0 0 1 1
ATPAF2 0 0 1 0 1
B3GALNT2 0 0 1 0 1
BAG3 1 0 0 0 1
BBS1, ZDHHC24 1 0 0 0 1
BBS5 0 1 0 0 1
CAPN3 0 1 0 0 1
CHD7 1 0 0 0 1
CLN6 1 0 0 0 1
CNTNAP1 0 0 1 0 1
COL4A5 0 1 0 0 1
COL6A1 0 1 0 0 1
CRX 0 0 0 1 1
CYP2U1 0 0 1 0 1
DNAJB6 0 0 1 0 1
DYSF 0 1 0 0 1
EBF3 1 0 0 0 1
FAM126A 0 1 0 0 1
FLNC 0 0 1 0 1
GAA 1 0 0 0 1
GALC 0 0 1 0 1
GH-LCR, SCN4A 0 0 0 1 1
GNAO1 0 1 0 0 1
GNAS 0 1 0 0 1
HOXB1 0 0 1 0 1
HR 0 0 0 1 1
IFIH1 1 0 0 0 1
INPP5E 0 0 1 0 1
KIF11 1 0 0 0 1
LAMA2 0 1 0 0 1
LAMB2 0 0 1 0 1
LMNA 0 1 0 0 1
MEFV 1 0 0 0 1
MYH7 0 0 1 0 1
NKX2-5 0 0 0 1 1
OFD1 1 0 0 0 1
PAX2 1 0 0 0 1
PCGF2 0 1 0 0 1
PHGDH 0 0 1 0 1
PLA2G6 0 1 0 0 1
PLCB4 0 1 0 0 1
PLCE1 0 1 0 0 1
POC1B 1 0 0 0 1
POMT1 1 0 0 0 1
POMT2 0 0 1 0 1
PSAP 1 0 0 0 1
PYCR2 1 0 0 0 1
RGS9 0 0 1 0 1
RHO 0 1 0 0 1
RPGRIP1L 0 1 0 0 1
SGCA 1 0 0 0 1
SLC19A3 0 0 1 0 1
SLC25A4 0 1 0 0 1
SLC2A1 0 1 0 0 1
SLC39A8 0 0 1 0 1
SMAD4 1 0 0 0 1
SNX14 0 1 0 0 1
SPG11 0 0 0 1 1
SPR 0 0 1 0 1
SRCAP 0 0 1 0 1
STAC3 1 0 0 0 1
SURF1 0 1 0 0 1
TAF1 0 0 1 0 1
THOC2 0 1 0 0 1
TMEM231 0 0 1 0 1
TP63 0 0 1 0 1
TRPM1 0 1 0 0 1
VDR 0 0 1 0 1
VLDLR 0 1 0 0 1
VPS11 0 0 1 0 1
VPS13B 0 1 0 0 1
WT1 1 0 0 0 1
WWOX 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 109
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Condition pathogenic likely pathogenic uncertain significance benign total
not specified 0 0 0 7 7
Limb-girdle muscular dystrophy, type 2L 2 1 2 0 5
Autosomal recessive polycystic kidney disease 2 0 2 0 4
Joubert syndrome 6 1 1 2 0 4
Finnish congenital nephrotic syndrome 1 1 1 0 3
Joubert syndrome 17 0 1 2 0 3
Joubert syndrome 5 0 3 0 0 3
Limb-girdle muscular dystrophy, type 2J 1 0 2 0 3
Myopathy, Central Core 0 3 0 0 3
Ullrich congenital muscular dystrophy 1 0 2 1 0 3
Adolescent nephronophthisis 2 0 0 0 2
Bardet-Biedl syndrome 16 1 1 0 0 2
Bardet-Biedl syndrome 2 0 1 1 0 2
Carbohydrate-deficient glycoprotein syndrome type II 0 0 2 0 2
Combined oxidative phosphorylation deficiency 13 0 2 0 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
Glycogen storage disease, type II 2 0 0 0 2
Joubert syndrome 13 0 0 2 0 2
Joubert syndrome 14 0 2 0 0 2
Joubert syndrome 3 0 0 2 0 2
Limb-girdle muscular dystrophy, type 2D 2 0 0 0 2
Lissencephaly 1 1 1 0 0 2
Mental retardation-hypotonic facies syndrome X-linked, 1 0 1 1 0 2
Myopathy, early-onset, with fatal cardiomyopathy 0 0 2 0 2
Nephronophthisis 12 1 0 1 0 2
Retinitis pigmentosa 39 1 1 0 0 2
Schimke immunoosseous dysplasia 1 0 1 0 2
Seizures; Progressive muscle weakness 0 0 2 0 2
Usher syndrome, type 2A 2 0 0 0 2
Abnormality of the outer ear; Intellectual disability 0 1 0 0 1
Aicardi-Goutieres syndrome 7 1 0 0 0 1
Alport syndrome 1, X-linked recessive 0 1 0 0 1
Asparagine synthetase deficiency 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
Biotin-thiamine-responsive basal ganglia disease 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
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 0 1 0 0 1
Ceroid lipofuscinosis neuronal 1 0 1 0 0 1
Ceroid lipofuscinosis neuronal 6 1 0 0 0 1
Coffin-Siris syndrome 1 0 1 0 0 1
Cohen syndrome 0 1 0 0 1
Combined saposin deficiency 1 0 0 0 1
Cone-rod dystrophy 20 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
Diffuse mesangial sclerosis 1 0 0 0 1
Early infantile epileptic encephalopathy 17 0 1 0 0 1
Epileptic encephalopathy, early infantile, 1 0 1 0 0 1
Epileptic encephalopathy, early infantile, 28 0 0 1 0 1
Familial mediterranean fever, autosomal dominant 1 0 0 0 1
Floating-Harbor syndrome 0 0 1 0 1
Focal segmental glomerulosclerosis 7 1 0 0 0 1
GLUT1 deficiency syndrome 1 0 1 0 0 1
Galactosylceramide beta-galactosidase deficiency 0 0 1 0 1
Hereditary congenital facial paresis 3 0 0 1 0 1
Hypomyelination and Congenital Cataract 0 1 0 0 1
Infantile neuroaxonal dystrophy 0 1 0 0 1
Joubert syndrome 1 0 0 1 0 1
Joubert syndrome 10 1 0 0 0 1
Joubert syndrome 7 0 1 0 0 1
Leigh syndrome 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
Limb-girdle muscular dystrophy, type 1E 0 0 1 0 1
Limb-girdle muscular dystrophy, type 2A 0 1 0 0 1
Limb-girdle muscular dystrophy, type 2B 0 1 0 0 1
Lissencephaly 3 0 1 0 0 1
Meckel syndrome, type 11 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 recessive 36 1 0 0 0 1
Merosin deficient congenital muscular dystrophy 0 1 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
Muscular dystrophy 0 0 1 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 0 0 1 0 1
Myhre syndrome 1 0 0 0 1
Myofibrillar myopathy, BAG3-related 1 0 0 0 1
Myopathy, distal, 1 0 0 1 0 1
Myopathy, distal, 4 0 0 1 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
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 0 0 1 0 1
Phosphoglycerate dehydrogenase deficiency 0 0 1 0 1
Primary autosomal recessive microcephaly 5 0 1 0 0 1
Primary hyperoxaluria, type I 1 0 0 0 1
Pseudopseudohypoparathyroidism 0 1 0 0 1
Renal-hepatic-pancreatic dysplasia 1 0 0 0 1
Retinitis pigmentosa 4 0 1 0 0 1
Robin sequence 1 0 0 0 1
Sarcotubular myopathy 0 0 1 0 1
Sepiapterin reductase deficiency 0 0 1 0 1
Sjögren-Larsson syndrome 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
Spinocerebellar ataxia, autosomal recessive 20 0 1 0 0 1
Visceral myopathy 1 0 0 0 1
Vitamin D-dependent rickets, type 2 0 0 1 0 1

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