ClinVar Miner

Variants from UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Location: United States  Primary collection method: clinical testing
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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
78 104 265 5 0 452

Gene and significance breakdown #

Total genes and gene combinations: 211
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
DNAH5 2 12 22 0 36
DNAH1 0 1 23 0 24
DNAH11 0 2 18 0 20
DNAH8 0 1 12 2 15
CCDC40 2 2 6 0 10
COL4A4 1 4 4 0 9
DNAH9 0 1 8 0 9
RSPH4A 1 3 5 0 9
PAH 8 0 0 0 8
PLCE1 0 0 7 0 7
DNAI1 2 3 1 0 6
NPHS1 1 0 4 1 6
DNAAF1 0 0 4 1 5
LAMB2 0 1 4 0 5
MYH9 0 0 5 0 5
ODAD2 0 1 4 0 5
USH2A 2 3 0 0 5
CCDC39 1 0 2 1 4
COL4A3, MFF-DT 0 2 2 0 4
COL4A5 1 3 0 0 4
ODAD3 0 1 3 0 4
OFD1 0 1 3 0 4
RPGR 0 0 4 0 4
SPAG1 0 2 2 0 4
ACADM 3 0 0 0 3
CCDC103 0 0 3 0 3
DNAAF4, DNAAF4-CCPG1 1 0 2 0 3
G6PD 3 0 0 0 3
POLG, POLGARF 3 0 0 0 3
SERPINA1 2 1 0 0 3
SLC26A4 2 1 0 0 3
ZMYND10 0 1 2 0 3
ATP13A2 0 2 0 0 2
BLTP1 0 0 2 0 2
BRCA2 2 0 0 0 2
BSND 1 0 1 0 2
CCDC65 0 0 2 0 2
CCNO 0 1 1 0 2
CDCA7L, DNAH11 0 0 2 0 2
CFTR 2 0 0 0 2
DNAAF2 0 0 2 0 2
DNAAF5 0 0 2 0 2
DNAI2 0 0 2 0 2
F11 0 2 0 0 2
FAT4 0 0 2 0 2
GALT 1 1 0 0 2
GJB2 2 0 0 0 2
HFE 2 0 0 0 2
INF2 0 0 2 0 2
INTS1 0 1 1 0 2
KMT2C 0 0 2 0 2
KMT2D 0 0 2 0 2
LOXHD1 0 0 2 0 2
MYO1E 0 0 2 0 2
PDZD7 0 1 1 0 2
PEX1 2 0 0 0 2
PTEN 1 0 1 0 2
RSPH3 0 0 2 0 2
SAMHD1 0 1 1 0 2
SHANK2 0 0 2 0 2
SIL1 0 1 1 0 2
SLC17A5 0 0 2 0 2
TBCEL-TECTA, TECTA 1 0 1 0 2
TELO2 0 1 1 0 2
TMPRSS3 0 1 1 0 2
TRIO 0 0 2 0 2
WNT10A 1 0 1 0 2
WT1 0 0 2 0 2
ZMYND11 0 0 2 0 2
AARS2, POLR1C 0 1 0 0 1
ACTN4 0 0 1 0 1
AGK 0 1 0 0 1
ANGPT2, MCPH1 0 1 0 0 1
APTX 1 0 0 0 1
ARID2 0 0 1 0 1
ASH1L 0 0 1 0 1
ASL 1 0 0 0 1
ASXL3 0 0 1 0 1
ATL1 0 1 0 0 1
ATP7B 0 1 0 0 1
B3GLCT 1 0 0 0 1
B9D1 0 1 0 0 1
BBS1, ZDHHC24 1 0 0 0 1
BCKDHA 1 0 0 0 1
BRPF1 0 1 0 0 1
CACNA1G 0 0 1 0 1
CAMK2B 0 0 1 0 1
CASK 0 0 1 0 1
CD36 0 1 0 0 1
CDK5RAP2 0 1 0 0 1
CEP290 0 1 0 0 1
CHD8 0 0 1 0 1
CIC 0 0 1 0 1
CLCN1 0 0 1 0 1
COL1A2 0 1 0 0 1
COL4A2 0 0 1 0 1
CREBBP 0 0 1 0 1
CRYBA1 0 0 1 0 1
CSNK2B 0 1 0 0 1
CYP21A2, LOC106780800 1 0 0 0 1
DAG1 0 0 1 0 1
DARS2 0 1 0 0 1
DEAF1 0 0 1 0 1
DHPS 0 1 0 0 1
DISP1 0 0 1 0 1
DNAAF11 0 1 0 0 1
DNAAF3 0 0 1 0 1
DNAH11, LOC126859961 0 0 1 0 1
DNAH8, LOC126859667 0 0 1 0 1
DNAH9, LOC126862505 0 0 1 0 1
DNAJB13 0 0 1 0 1
DNM1, LOC113839516 0 0 1 0 1
DOCK8 0 1 0 0 1
DRC1 0 0 1 0 1
DSC2 0 1 0 0 1
DYNC2H1 0 1 0 0 1
EHMT1 0 0 1 0 1
EP300 0 0 1 0 1
ERCC6 0 1 0 0 1
F5 1 0 0 0 1
F7 0 1 0 0 1
FBN1 0 0 1 0 1
G6PC1 1 0 0 0 1
GAA 1 0 0 0 1
GAS8 0 0 1 0 1
GATA3 0 0 1 0 1
GNAI1 0 0 1 0 1
GNE 1 0 0 0 1
GNRHR 1 0 0 0 1
GRIK2 0 0 1 0 1
GUSB 0 1 0 0 1
HPS3 0 1 0 0 1
HSD17B4, LOC129994460 0 1 0 0 1
IDUA 1 0 0 0 1
IDUA, SLC26A1 1 0 0 0 1
IFIH1 0 0 1 0 1
IGF1R, IRAIN 0 0 1 0 1
IGHMBP2 0 1 0 0 1
IQSEC2 0 0 1 0 1
KCNA2 0 0 1 0 1
KCNQ5 0 0 1 0 1
KCNT1 0 0 1 0 1
KIAA0586 0 1 0 0 1
KIF1A 0 0 1 0 1
KIRREL2, NPHS1 1 0 0 0 1
LAMB1 0 0 1 0 1
LDLR 0 1 0 0 1
LIX1L, LOC126805851, RBM8A 0 1 0 0 1
LOC112543452, MAST1 0 0 1 0 1
LOC121853040, TCN2 0 0 1 0 1
LOC126806462, SATB2 0 0 1 0 1
LOC126860802, ZMYND11 0 0 1 0 1
LOC126861615, PAH 1 0 0 0 1
LOC129997052, RSPH4A 1 0 0 0 1
LOC130009810, RNASEH2B 0 1 0 0 1
LTBP2 0 0 1 0 1
LZTR1 0 0 1 0 1
MAOA 0 0 1 0 1
MARVELD2 0 1 0 0 1
MBD5 0 0 1 0 1
MCCC1 0 1 0 0 1
MCIDAS 0 1 0 0 1
MED12 0 0 1 0 1
MEF2C 0 0 1 0 1
MKKS 0 1 0 0 1
MLYCD 0 0 1 0 1
MMAB 1 0 0 0 1
MMACHC 1 0 0 0 1
MPL 0 1 0 0 1
MYH14 0 0 1 0 1
MYH3 0 0 1 0 1
MYO3A 0 1 0 0 1
MYO7A 0 0 1 0 1
NDUFS1 0 1 0 0 1
NOC3L, PLCE1 0 0 1 0 1
NR2E3 1 0 0 0 1
NSD1 0 0 1 0 1
OCRL 0 1 0 0 1
ODAD1 1 0 0 0 1
OGT 0 0 1 0 1
OTC 0 1 0 0 1
PACS2 0 0 1 0 1
PAX3 0 0 1 0 1
PFKM 0 1 0 0 1
PHYH 1 0 0 0 1
PMM2 1 0 0 0 1
POLR2F, SOX10 0 0 1 0 1
PPP2R5D 0 0 1 0 1
RAD51C 1 0 0 0 1
RAG1 0 0 1 0 1
RPE65 1 0 0 0 1
RSPH1 0 0 1 0 1
SCN8A 0 0 1 0 1
SET 0 0 1 0 1
SHANK3 0 0 1 0 1
SLC22A5 1 0 0 0 1
SLC7A9 0 1 0 0 1
SMARCAL1 1 0 0 0 1
SOX5 0 1 0 0 1
SUMF1 0 1 0 0 1
SURF1 0 1 0 0 1
THOC2 0 0 1 0 1
TPP1 1 0 0 0 1
TRIP12 0 0 1 0 1
TYR 0 1 0 0 1
UNC80 0 1 0 0 1
VWF 1 0 0 0 1
WRN 0 1 0 0 1
XRCC4 0 1 0 0 1
ZC4H2 0 0 1 0 1
ZEB2 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 176
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Primary ciliary dyskinesia 11 32 146 4 193
Nephrotic syndrome 2 1 7 1 11
Alport syndrome 1 6 2 0 9
Focal segmental glomerulosclerosis 1 0 8 0 9
Glomerulonephritis 1 1 7 0 9
Phenylketonuria 9 0 0 0 9
Microscopic hematuria 0 1 7 0 8
USH2A-Related Disorders 2 2 0 0 4
Alpha-1-antitrypsin deficiency 2 1 0 0 3
Intellectual disability, autosomal dominant 30 0 0 3 0 3
Medium-chain acyl-coenzyme A dehydrogenase deficiency 3 0 0 0 3
Proteinuria 0 0 3 0 3
Aicardi-Goutieres syndrome 5 0 1 1 0 2
Alkuraya-Kucinskas syndrome 0 0 2 0 2
Autism spectrum disorder 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 1A 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 4 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 0 0 2 0 2
Autosomal recessive nonsyndromic hearing loss 8 0 1 1 0 2
Bartter disease type 4A 1 0 1 0 2
Cystic fibrosis 2 0 0 0 2
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 1 0 0 2
Diffuse mesangial sclerosis 0 1 1 0 2
G6PD deficiency; Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2 0 0 0 2
Hearing loss, autosomal recessive 57 0 1 1 0 2
Hemochromatosis type 1 2 0 0 0 2
Hereditary factor XI deficiency disease 0 2 0 0 2
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 2 0 2
Kabuki syndrome 1 0 0 2 0 2
Kleefstra syndrome 2 0 0 2 0 2
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 0 2 0 0 2
Marinesco-Sjögren syndrome 0 1 1 0 2
Mucopolysaccharidosis type 1 2 0 0 0 2
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 0 1 1 0 2
Peroxisome biogenesis disorder 1A (Zellweger) 2 0 0 0 2
Polycystic kidney disease 0 0 2 0 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 2 0 0 0 2
TELO2-related intellectual disability-neurodevelopmental disorder 0 1 1 0 2
Van Maldergem syndrome 2 0 0 2 0 2
3-methylcrotonyl-CoA carboxylase 1 deficiency 0 1 0 0 1
Aicardi-Goutieres syndrome 2 0 1 0 0 1
Aicardi-Goutieres syndrome 7 0 0 1 0 1
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1 0 0 0 1
Argininosuccinate lyase deficiency 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 11 0 1 0 0 1
Asphyxiating thoracic dystrophy 3 0 1 0 0 1
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 12 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 4A 0 0 1 0 1
Autosomal recessive distal spinal muscular atrophy 1; Charcot-Marie-Tooth disease axonal type 2S 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 21 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 30 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 49 0 1 0 0 1
Bardet-Biedl syndrome 1 0 0 0 1
Bardet-Biedl syndrome 6 0 1 0 0 1
Bifunctional peroxisomal enzyme deficiency 0 1 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 2 1 0 0 0 1
Breast-ovarian cancer, familial, susceptibility to, 3 1 0 0 0 1
Brunner syndrome 0 0 1 0 1
CEP290-Related Disorders 0 1 0 0 1
Cataract 10 multiple types 0 0 1 0 1
Chromosome 2q32-q33 deletion syndrome 0 0 1 0 1
Clark-Baraitser syndrome 0 0 1 0 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 1 0 0 0 1
Cobalamin C disease 1 0 0 0 1
Cobblestone lissencephaly without muscular or ocular involvement 0 0 1 0 1
Coffin-Siris syndrome 6 0 0 1 0 1
Cognitive impairment with or without cerebellar ataxia 0 0 1 0 1
Combined immunodeficiency due to DOCK8 deficiency 0 1 0 0 1
Combined oxidative phosphorylation defect type 8 0 1 0 0 1
Congenital amegakaryocytic thrombocytopenia 0 1 0 0 1
Congenital myotonia, autosomal recessive form 0 0 1 0 1
Cowden syndrome 1 0 0 1 0 1
Cystinuria 0 1 0 0 1
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 0 1 0 0 1
Deficiency of malonyl-CoA decarboxylase 0 0 1 0 1
Developmental and epileptic encephalopathy, 1 0 0 1 0 1
Developmental and epileptic encephalopathy, 14 0 0 1 0 1
Developmental and epileptic encephalopathy, 31 0 0 1 0 1
Developmental and epileptic encephalopathy, 32 0 0 1 0 1
Enhanced S-cone syndrome; NR2E3-Related Disorders 1 0 0 0 1
FG syndrome 1 0 0 1 0 1
Factor V deficiency; Thrombophilia due to activated protein C resistance 1 0 0 0 1
Factor VII deficiency 0 1 0 0 1
Familial hypokalemia-hypomagnesemia 0 0 1 0 1
Freeman-Sheldon syndrome 0 0 1 0 1
GNE myopathy 1 0 0 0 1
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 0 0 0 1
Glycogen storage disease, type II 1 0 0 0 1
Glycogen storage disease, type VII 0 1 0 0 1
Growth delay due to insulin-like growth factor I resistance 0 0 1 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 1
Hereditary spastic paraplegia 30 0 0 1 0 1
Hereditary spastic paraplegia 3A 0 1 0 0 1
Hermansky-Pudlak syndrome 3 0 1 0 0 1
Hogue-Janssens syndrome 1 0 0 1 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 1 0 0 0 1
Hypoparathyroidism, deafness, renal disease syndrome 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 0 1 0 0 1
Intellectual developmental disorder with autism and macrocephaly 0 0 1 0 1
Intellectual developmental disorder with dysmorphic facies and ptosis 0 1 0 0 1
Intellectual disability, CASK-related, X-linked 0 0 1 0 1
Intellectual disability, X-linked 1 0 0 1 0 1
Intellectual disability, X-linked 106 0 0 1 0 1
Intellectual disability, autosomal dominant 1 0 0 1 0 1
Intellectual disability, autosomal dominant 20 0 0 1 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 45 0 0 1 0 1
Intellectual disability, autosomal dominant 46 0 0 1 0 1
Intellectual disability, autosomal dominant 52 0 0 1 0 1
Intellectual disability, autosomal dominant 54 0 0 1 0 1
Intellectual disability, autosomal dominant 58 0 0 1 0 1
Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 0 1 0 0 1
Joubert syndrome 27 0 1 0 0 1
Kleefstra syndrome 1 0 0 1 0 1
Lamb-Shaffer syndrome 0 1 0 0 1
Leigh syndrome 0 1 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 0 1 0 0 1
Lowe syndrome 0 1 0 0 1
MYO7A-Related Disorders 0 0 1 0 1
Maple syrup urine disease 1 0 0 0 1
Marfan syndrome 0 0 1 0 1
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 0 0 1 0 1
Methylmalonic aciduria, cblB type 1 0 0 0 1
Microcephaly 1, primary, autosomal recessive 0 1 0 0 1
Microcephaly 3, primary, autosomal recessive 0 1 0 0 1
Microform holoprosencephaly 0 0 1 0 1
Mitochondrial complex 1 deficiency, nuclear type 5 0 1 0 0 1
Mowat-Wilson syndrome 0 0 1 0 1
Mucopolysaccharidosis type 7 0 1 0 0 1
Multiple sulfatase deficiency 0 1 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 0 1 0 1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities 0 0 1 0 1
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures 0 0 1 0 1
Neurodevelopmental disorder with seizures and speech and walking impairment 0 1 0 0 1
Neuronal ceroid lipofuscinosis 2 1 0 0 0 1
Noonan syndrome 10 0 0 1 0 1
Odonto-onycho-dermal dysplasia 0 0 1 0 1
Ornithine carbamoyltransferase deficiency 0 1 0 0 1
Osteogenesis imperfecta 0 1 0 0 1
PMM2-congenital disorder of glycosylation 1 0 0 0 1
POLG-related disorder 1 0 0 0 1
PTEN hamartoma tumor syndrome 1 0 0 0 1
Pendred syndrome 0 1 0 0 1
Peters plus syndrome 1 0 0 0 1
Phelan-McDermid syndrome 0 0 1 0 1
Phytanic acid storage disease 1 0 0 0 1
Platelet-type bleeding disorder 10 0 1 0 0 1
Poirier-Bienvenu neurodevelopmental syndrome 0 1 0 0 1
Porencephaly 2 0 0 1 0 1
Primary ciliary dyskinesia 23 0 1 0 0 1
Primary ciliary dyskinesia 7 0 1 0 0 1
Radial aplasia-thrombocytopenia syndrome 0 1 0 0 1
Renal carnitine transport defect 1 0 0 0 1
Retinitis pigmentosa 20; Leber congenital amaurosis; RPE65-Related Disorders 1 0 0 0 1
Retinitis pigmentosa 39 0 1 0 0 1
Rubinstein-Taybi syndrome due to CREBBP mutations 0 0 1 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 0 1 0 1
Schimke immuno-osseous dysplasia 1 0 0 0 1
Sengers syndrome 0 1 0 0 1
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 0 0 1 0 1
Short stature, microcephaly, and endocrine dysfunction 0 1 0 0 1
Sotos syndrome 0 0 1 0 1
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 0 0 1 0 1
Tooth agenesis, selective, 4 1 0 0 0 1
Transcobalamin II deficiency 0 0 1 0 1
Tyrosinase-negative oculocutaneous albinism 0 1 0 0 1
Waardenburg syndrome type 2E 0 0 1 0 1
Waardenburg syndrome type 3 0 0 1 0 1
Weill-Marchesani syndrome 3 0 0 1 0 1
Werner syndrome 0 1 0 0 1
Wieacker-Wolff syndrome, female-restricted 0 0 1 0 1
Wilson disease 0 1 0 0 1
X-linked intellectual disability-short stature-overweight syndrome 0 0 1 0 1
von Willebrand disease type 2 1 0 0 0 1

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