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UNC Molecular Genetics Laboratory (University of North Carolina at Chapel Hill), UNC MGL

General information

UNC Molecular Genetics Laboratory, UNC MGL
University of North Carolina at Chapel Hill
Campus Box 7525
Chapel Hill
North Carolina
United States - 27599
https://www.uncmedicalcenter.org/mclendon-clinical-laboratories/directory/molecular-pathology-and-genetics/
Organization ID: 506663

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 455

Gene

GeneSubmissionsLast Updated
AARS21Feb 26, 2020
ACADM3Feb 26, 2020
ACTN41Aug 26, 2021
AGK1Feb 26, 2020
ANGPT21Feb 26, 2020
APTX1Feb 26, 2020
ARID21Apr 16, 2021
ASH1L1Mar 8, 2020
ASL1Feb 26, 2020
ASXL31Mar 8, 2020
ATL11Oct 26, 2022
ATP13A22Feb 26, 2020
ATP7B1Feb 26, 2020
B3GLCT1Oct 26, 2022
B9D11Oct 26, 2022
BBS11Feb 26, 2020
BCKDHA1Feb 26, 2020
BLTP12Apr 16, 2021
BRCA22Oct 26, 2022
BRPF11Apr 16, 2021
BSND2Apr 16, 2021
CACNA1G1Apr 16, 2021
CAMK2B1Oct 26, 2022
CASK1Oct 26, 2022
CCDC394Aug 26, 2021
CCDC4010Sep 16, 2022
CCDC652Aug 26, 2021
CCNO2Aug 26, 2021
CD361Feb 26, 2020
CDCA7L2Aug 26, 2021
CDK5RAP21Feb 26, 2020
CEP2901Feb 26, 2020
CFTR2Feb 26, 2020
CFTR-AS12Feb 26, 2020
CHD81Apr 16, 2021
CIC1Oct 26, 2022
CLCN11Mar 8, 2020
COL1A21Apr 16, 2021
COL4A21Mar 8, 2020
COL4A2-AS11Mar 8, 2020
COL4A34Aug 26, 2021
COL4A49Sep 16, 2022
COL4A54Aug 26, 2021
CREBBP1Mar 8, 2020
CRYBA11Oct 26, 2022
CSNK2B1Mar 8, 2020
CYP21A21Feb 26, 2020
DAG11Mar 8, 2020
DARS21Feb 26, 2020
DEAF11Oct 26, 2022
DHPS1Oct 26, 2022
DISP11Apr 16, 2021
DNAAF15Aug 26, 2021
DNAAF111Aug 26, 2021
DNAAF193Aug 26, 2021
DNAAF22Aug 26, 2021
DNAAF31Aug 26, 2021
DNAAF3-AS11Aug 26, 2021
DNAAF43Aug 26, 2021
DNAAF4-CCPG13Aug 26, 2021
DNAAF52Aug 26, 2021
DNAH124Sep 16, 2022
DNAH1123Sep 16, 2022
DNAH536Sep 16, 2022
DNAH816Sep 16, 2022
DNAH8-AS14Sep 16, 2022
DNAH910Sep 16, 2022
DNAI16Aug 26, 2021
DNAI22Aug 26, 2021
DNAJB131Aug 26, 2021
DNM11Oct 26, 2022
DOCK81Feb 26, 2020
DRC11Aug 26, 2021
DSC21Feb 26, 2020
DYNC2H11Feb 26, 2020
EHMT11Oct 26, 2022
EP3001Oct 26, 2022
ERCC61Feb 26, 2020
F112Feb 26, 2020
F11-AS12Feb 26, 2020
F51Feb 26, 2020
F71Feb 26, 2020
FAT42Apr 16, 2021
FBN11Apr 16, 2021
G6PC11Feb 26, 2020
G6PD3Oct 26, 2022
GAA1Feb 26, 2020
GALT2Feb 26, 2020
GAS81Aug 26, 2021
GATA31Oct 26, 2022
GJB22Feb 26, 2020
GNAI11Oct 26, 2022
GNE1Feb 26, 2020
GNRHR1Feb 26, 2020
GRIK21Oct 26, 2022
GUSB1Feb 26, 2020
HFE2Feb 26, 2020
HFE-AS11Feb 26, 2020
HPS31Feb 26, 2020
HSD17B41Mar 8, 2020
IDUA2Feb 26, 2020
IFIH11Mar 8, 2020
IGF1R1Mar 8, 2020
IGHMBP21Feb 26, 2020
INF22Aug 26, 2021
INTS12Apr 16, 2021
IQSEC21Mar 8, 2020
IRAIN1Mar 8, 2020
KCNA21Oct 26, 2022
KCNQ51Apr 16, 2021
KCNT11Oct 26, 2022
KIAA05861Feb 26, 2020
KIF1A1Oct 26, 2022
KIRREL21Sep 16, 2022
KMT2C2Oct 26, 2022
KMT2D2Apr 16, 2021
LAMB11Mar 8, 2020
LAMB25Sep 16, 2022
LDLR1Feb 26, 2020
LIX1L-AS11Feb 26, 2020
LOC1067808001Feb 26, 2020
LOC1125434521Oct 26, 2022
LOC1138395161Oct 26, 2022
LOC1218530401Mar 8, 2020
LOC1268058511Feb 26, 2020
LOC1268064621Apr 16, 2021
LOC1268596671Aug 26, 2021
LOC1268599611Aug 26, 2021
LOC1268608021Mar 8, 2020
LOC1268616151Feb 26, 2020
LOC1268625051Aug 26, 2021
LOC1299944601Mar 8, 2020
LOC1299970521Aug 26, 2021
LOC1300098101Feb 26, 2020
LOXHD12Feb 26, 2020
LTBP21Mar 8, 2020
LZTR11Oct 26, 2022
MAOA1Apr 16, 2021
MARVELD21Feb 26, 2020
MAST11Oct 26, 2022
MBD51Mar 8, 2020
MCCC11Feb 26, 2020
MCIDAS1Aug 26, 2021
MCPH11Feb 26, 2020
MED121Apr 16, 2021
MEF2C1Oct 26, 2022
MFF-DT4Aug 26, 2021
MKKS1Oct 26, 2022
MLYCD1Feb 26, 2020
MMAB1Feb 26, 2020
MMACHC1Feb 26, 2020
MPL1Feb 26, 2020
MYH141Feb 26, 2020
MYH31Apr 16, 2021
MYH96Sep 16, 2022
MYO1E2Sep 16, 2022
MYO3A1Feb 26, 2020
MYO7A1Feb 26, 2020
NDUFS11Mar 8, 2020
NOC3L1Aug 26, 2021
NPHS18Sep 16, 2022
NR2E31Feb 26, 2020
NSD11Mar 8, 2020
OCRL1Feb 26, 2020
ODAD11Aug 26, 2021
ODAD25Sep 16, 2022
ODAD34Aug 26, 2021
OFD14Sep 16, 2022
OGT1Oct 26, 2022
OTC1Feb 26, 2020
PACS21Oct 26, 2022
PAH9Feb 26, 2020
PAX31Oct 26, 2022
PDZD72Mar 8, 2020
PEX12Mar 8, 2020
PFKM1Feb 26, 2020
PHYH1Feb 26, 2020
PLCE19Sep 16, 2022
PMM21Feb 26, 2020
POLG3Oct 26, 2022
POLGARF3Oct 26, 2022
POLR1C1Feb 26, 2020
POLR2F1Feb 26, 2020
PPP2R5D1Oct 26, 2022
PTEN2Apr 16, 2021
RAD51C1Feb 26, 2020
RAG11Aug 26, 2021
RBM8A1Feb 26, 2020
RNASEH2B1Feb 26, 2020
RNASEH2B-AS11Feb 26, 2020
RPE651Feb 26, 2020
RPGR4Aug 26, 2021
RSPH11Aug 26, 2021
RSPH32Aug 26, 2021
RSPH4A10Aug 26, 2021
SAMHD12Aug 9, 2018
SATB21Apr 16, 2021
SCN8A1Apr 16, 2021
SERPINA13Feb 26, 2020
SET1Oct 26, 2022
SHANK22Apr 16, 2021
SHANK31Mar 8, 2020
SIL12Mar 8, 2020
SLC17A52Sep 16, 2022
SLC22A51Feb 26, 2020
SLC26A11Feb 26, 2020
SLC26A43Feb 26, 2020
SLC7A91Feb 26, 2020
SMARCAL11Feb 26, 2020
SOX101Feb 26, 2020
SOX51Mar 8, 2020
SPAG14Aug 26, 2021
SUMF11Mar 8, 2020
SURF11Mar 8, 2020
TBCEL-TECTA2Oct 26, 2022
TCN21Mar 8, 2020
TECTA2Oct 26, 2022
TELO22Mar 8, 2020
THOC21Mar 8, 2020
TMPRSS32Feb 26, 2020
TPP11Oct 26, 2022
TRIO2Oct 26, 2022
TRIP121Apr 16, 2021
TYR1Feb 26, 2020
UNC801Oct 26, 2022
USH2A5Feb 26, 2020
USH2A-AS11Feb 26, 2020
VWF1Feb 26, 2020
WNT10A2Oct 26, 2022
WRN1Feb 26, 2020
WT12Sep 16, 2022
XRCC41Mar 8, 2020
ZC4H21Apr 16, 2021
ZDHHC241Feb 26, 2020
ZEB21Apr 16, 2021
ZMYND103Aug 26, 2021
ZMYND113Oct 26, 2022
ZNF181Aug 26, 2021

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency1Feb 26, 2020
Aicardi-Goutieres syndrome 21Feb 26, 2020
Aicardi-Goutieres syndrome 52Aug 9, 2018
Aicardi-Goutieres syndrome 71Mar 8, 2020
Alkuraya-Kucinskas syndrome2Apr 16, 2021
Alpha-1-antitrypsin deficiency3Feb 26, 2020
Alport syndrome9Aug 26, 2021
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3Oct 26, 2022
Argininosuccinate lyase deficiency1Feb 26, 2020
Arrhythmogenic right ventricular dysplasia 111Feb 26, 2020
Asphyxiating thoracic dystrophy 31Feb 26, 2020
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1Feb 26, 2020
Autism spectrum disorder2Apr 16, 2021
Autosomal dominant nonsyndromic hearing loss 121Feb 26, 2020
Autosomal dominant nonsyndromic hearing loss 4A1Feb 26, 2020
Autosomal recessive distal spinal muscular atrophy 11Feb 26, 2020
Autosomal recessive nonsyndromic hearing loss 1A2Feb 26, 2020
Autosomal recessive nonsyndromic hearing loss 211Oct 26, 2022
Autosomal recessive nonsyndromic hearing loss 301Feb 26, 2020
Autosomal recessive nonsyndromic hearing loss 42Feb 26, 2020
Autosomal recessive nonsyndromic hearing loss 491Feb 26, 2020
Autosomal recessive nonsyndromic hearing loss 772Feb 26, 2020
Autosomal recessive nonsyndromic hearing loss 82Feb 26, 2020
Autosomal recessive spastic paraplegia type 782Feb 26, 2020
Bardet-Biedl syndrome1Feb 26, 2020
Bardet-Biedl syndrome 61Oct 26, 2022
Bartter disease type 4A2Apr 16, 2021
Bifunctional peroxisomal enzyme deficiency1Mar 8, 2020
Breast-ovarian cancer, familial, susceptibility to, 21Oct 26, 2022
Breast-ovarian cancer, familial, susceptibility to, 31Feb 26, 2020
Brunner syndrome1Apr 16, 2021
CEP290-related disorder1Feb 26, 2020
Cataract 10 multiple types1Oct 26, 2022
Cerebrooculofacioskeletal syndrome 11Feb 26, 2020
Charcot-Marie-Tooth disease axonal type 2S1Feb 26, 2020
Chromosome 2q32-q33 deletion syndrome1Apr 16, 2021
Clark-Baraitser syndrome1Apr 16, 2021
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1Feb 26, 2020
Cobalamin C disease1Feb 26, 2020
Cobblestone lissencephaly without muscular or ocular involvement1Mar 8, 2020
Cockayne syndrome type 21Feb 26, 2020
Coffin-Siris syndrome 61Apr 16, 2021
Cognitive impairment with or without cerebellar ataxia1Apr 16, 2021
Combined immunodeficiency due to DOCK8 deficiency1Feb 26, 2020
Combined oxidative phosphorylation defect type 81Feb 26, 2020
Congenital amegakaryocytic thrombocytopenia1Feb 26, 2020
Congenital myotonia, autosomal recessive form1Mar 8, 2020
Cowden syndrome 11Apr 16, 2021
Cystic fibrosis2Feb 26, 2020
Cystinuria1Feb 26, 2020
DE SANCTIS-CACCHIONE SYNDROME1Feb 26, 2020
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2Feb 26, 2020
Deficiency of malonyl-CoA decarboxylase1Feb 26, 2020
Developmental and epileptic encephalopathy, 11Oct 26, 2022
Developmental and epileptic encephalopathy, 141Oct 26, 2022
Developmental and epileptic encephalopathy, 31A1Oct 26, 2022
Developmental and epileptic encephalopathy, 321Oct 26, 2022
Diffuse mesangial sclerosis2Sep 16, 2022
Enhanced S-cone syndrome1Feb 26, 2020
FG syndrome 11Apr 16, 2021
Factor V deficiency1Feb 26, 2020
Factor VII deficiency1Feb 26, 2020
Familial hypokalemia-hypomagnesemia1Sep 16, 2022
Focal segmental glomerulosclerosis9Sep 16, 2022
Freeman-Sheldon syndrome1Apr 16, 2021
G6PD deficiency2Feb 26, 2020
GNE myopathy1Feb 26, 2020
Glomerulonephritis9Aug 26, 2021
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1Feb 26, 2020
Glycogen storage disease, type II1Feb 26, 2020
Glycogen storage disease, type VII1Feb 26, 2020
Growth delay due to insulin-like growth factor I resistance1Mar 8, 2020
Hearing loss, autosomal recessive 572Mar 8, 2020
Hemochromatosis type 12Feb 26, 2020
Hereditary breast ovarian cancer syndrome1Feb 26, 2020
Hereditary factor XI deficiency disease2Feb 26, 2020
Hereditary spastic paraplegia 301Oct 26, 2022
Hereditary spastic paraplegia 3A1Oct 26, 2022
Hermansky-Pudlak syndrome 31Feb 26, 2020
Hogue-Janssens syndrome 11Oct 26, 2022
Hypercholesterolemia, familial, 11Feb 26, 2020
Hypogonadotropic hypogonadism 7 with or without anosmia1Feb 26, 2020
Hypoparathyroidism, deafness, renal disease syndrome1Oct 26, 2022
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21Oct 26, 2022
Intellectual developmental disorder with autism and macrocephaly1Apr 16, 2021
Intellectual developmental disorder with dysmorphic facies and ptosis1Apr 16, 2021
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly2Oct 26, 2022
Intellectual disability, CASK-related, X-linked1Oct 26, 2022
Intellectual disability, X-linked 11Mar 8, 2020
Intellectual disability, X-linked 1061Oct 26, 2022
Intellectual disability, autosomal dominant 11Mar 8, 2020
Intellectual disability, autosomal dominant 201Oct 26, 2022
Intellectual disability, autosomal dominant 241Oct 26, 2022
Intellectual disability, autosomal dominant 303Oct 26, 2022
Intellectual disability, autosomal dominant 451Oct 26, 2022
Intellectual disability, autosomal dominant 461Apr 16, 2021
Intellectual disability, autosomal dominant 521Mar 8, 2020
Intellectual disability, autosomal dominant 541Oct 26, 2022
Intellectual disability, autosomal dominant 581Oct 26, 2022
Joubert syndrome 231Feb 26, 2020
Joubert syndrome 271Oct 26, 2022
Kabuki syndrome 12Apr 16, 2021
Kleefstra syndrome 11Oct 26, 2022
Kleefstra syndrome 22Oct 26, 2022
Kufor-Rakeb syndrome2Feb 26, 2020
Lamb-Shaffer syndrome1Mar 8, 2020
Leber congenital amaurosis1Feb 26, 2020
Leigh syndrome1Mar 8, 2020
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1Feb 26, 2020
Lowe syndrome1Feb 26, 2020
MYO7A-related disorder1Feb 26, 2020
Maple syrup urine disease1Feb 26, 2020
Marfan syndrome1Apr 16, 2021
Marinesco-Sjögren syndrome2Mar 8, 2020
Medium-chain acyl-coenzyme A dehydrogenase deficiency3Feb 26, 2020
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations1Oct 26, 2022
Methylmalonic aciduria, cblB type1Feb 26, 2020
Microcephaly 1, primary, autosomal recessive1Feb 26, 2020
Microcephaly 3, primary, autosomal recessive1Feb 26, 2020
Microform holoprosencephaly1Apr 16, 2021
Microscopic hematuria8Sep 16, 2022
Mitochondrial complex 1 deficiency, nuclear type 51Mar 8, 2020
Mowat-Wilson syndrome1Apr 16, 2021
Mucopolysaccharidosis type 12Feb 26, 2020
Mucopolysaccharidosis type 71Feb 26, 2020
Multiple sulfatase deficiency1Mar 8, 2020
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11Mar 8, 2020
NR2E3-related disorder1Feb 26, 2020
Nephrotic syndrome11Sep 16, 2022
Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies2Apr 16, 2021
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities1Oct 26, 2022
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures1Oct 26, 2022
Neurodevelopmental disorder with seizures and speech and walking impairment1Oct 26, 2022
Neuronal ceroid lipofuscinosis 21Oct 26, 2022
Noonan syndrome 101Oct 26, 2022
Odonto-onycho-dermal dysplasia1Oct 26, 2022
Ornithine carbamoyltransferase deficiency1Feb 26, 2020
Osteogenesis imperfecta1Apr 16, 2021
PMM2-congenital disorder of glycosylation1Feb 26, 2020
POLG-related disorder1Feb 26, 2020
PTEN hamartoma tumor syndrome1Mar 8, 2020
Pendred syndrome1Feb 26, 2020
Peroxisome biogenesis disorder 1A (Zellweger)2Mar 8, 2020
Peters plus syndrome1Oct 26, 2022
Phelan-McDermid syndrome1Mar 8, 2020
Phenylketonuria9Feb 26, 2020
Phytanic acid storage disease1Feb 26, 2020
Platelet-type bleeding disorder 101Feb 26, 2020
Poirier-Bienvenu neurodevelopmental syndrome1Mar 8, 2020
Polycystic kidney disease2Sep 16, 2022
Porencephaly 21Mar 8, 2020
Primary ciliary dyskinesia193Sep 16, 2022
Primary ciliary dyskinesia 231Feb 26, 2020
Primary ciliary dyskinesia 71Feb 26, 2020
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 12Oct 26, 2022
Proteinuria3Sep 16, 2022
RPE65-related disorder1Feb 26, 2020
Radial aplasia-thrombocytopenia syndrome1Feb 26, 2020
Renal carnitine transport defect1Feb 26, 2020
Retinitis pigmentosa 201Feb 26, 2020
Retinitis pigmentosa 391Feb 26, 2020
Rubinstein-Taybi syndrome due to CREBBP mutations1Mar 8, 2020
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency1Oct 26, 2022
Schimke immuno-osseous dysplasia1Feb 26, 2020
Sengers syndrome1Feb 26, 2020
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1Mar 8, 2020
Short stature, microcephaly, and endocrine dysfunction1Mar 8, 2020
Short-rib thoracic dysplasia 14 with polydactyly1Feb 26, 2020
Sotos syndrome1Mar 8, 2020
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits1Apr 16, 2021
TELO2-related intellectual disability-neurodevelopmental disorder2Mar 8, 2020
Thrombophilia due to activated protein C resistance1Feb 26, 2020
Tooth agenesis, selective, 41Oct 26, 2022
Transcobalamin II deficiency1Mar 8, 2020
Tyrosinase-negative oculocutaneous albinism1Feb 26, 2020
USH2A-related disorder4Feb 26, 2020
Van Maldergem syndrome 22Apr 16, 2021
Waardenburg syndrome type 2E1Feb 26, 2020
Waardenburg syndrome type 31Oct 26, 2022
Weill-Marchesani syndrome 31Mar 8, 2020
Werner syndrome1Feb 26, 2020
Wieacker-Wolff syndrome, female-restricted1Apr 16, 2021
Wilson disease1Feb 26, 2020
X-linked intellectual disability-short stature-overweight syndrome1Mar 8, 2020
von Willebrand disease type 21Feb 26, 2020