ABCC2 (ATP binding cassette subfamily C member 2) - Rat Genome Database

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Gene: ABCC2 (ATP binding cassette subfamily C member 2) Homo sapiens
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Symbol: ABCC2
Name: ATP binding cassette subfamily C member 2
RGD ID: 619569
HGNC Page HGNC:53
Description: Enables ABC-type glutathione S-conjugate transporter activity; ABC-type xenobiotic transporter activity; and bilirubin transmembrane transporter activity. Involved in carboxylic acid transport; xenobiotic export from cell; and xenobiotic transmembrane transport. Located in apical plasma membrane and cell surface. Implicated in bilirubin metabolic disorder (multiple); carcinoma (multiple); leukemia (multiple); and liver disease (multiple). Biomarker of cholestasis and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC30; ATP-binding cassette sub-family C member 2; ATP-binding cassette, sub-family C (CFTR/MRP), member 2; canalicular multidrug resistance protein; canalicular multispecific organic anion transporter 1; CMOAT; cMRP; DJS; KIAA1010; MRP2; multidrug resistance-associated protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381099,782,640 - 99,852,594 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1099,782,640 - 99,852,594 (+)EnsemblGRCh38hg38GRCh38
GRCh3710101,542,397 - 101,612,351 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610101,532,493 - 101,601,571 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410101,532,562 - 101,601,571NCBI
Celera1095,279,806 - 95,349,643 (+)NCBICelera
Cytogenetic Map10q24.2NCBI
HuRef1095,169,835 - 95,239,503 (+)NCBIHuRef
CHM1_110101,824,911 - 101,894,368 (+)NCBICHM1_1
T2T-CHM13v2.010100,665,562 - 100,736,331 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(+/-)-Aegeline  (ISO)
(-)-epigallocatechin 3-gallate  (ISO)
(1->4)-beta-D-glucan  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (EXP,ISO)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
(S)-colchicine  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (EXP,ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 17-glucosiduronic acid  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2',3'-dideoxyadenosine  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-acetamidofluorene  (EXP,ISO)
2-tert-butylhydroquinone  (EXP,ISO)
3',4',7-trihydroxyisoflavone  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
4'-epidoxorubicin  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxynon-2-enal  (EXP,ISO)
5(6)-carboxy-2',7'-dichlorofluorescein  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
5-chloromethylfluorescein diacetate  (EXP)
5-fluorouracil  (EXP)
5-formyltetrahydrofolic acid  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
5-methoxypsoralen  (EXP)
6-bromoindirubin-3'-oxime  (EXP)
6-carboxyfluorescein  (EXP)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
8-Br-cAMP  (ISO)
8-Epidiosbulbin E acetate  (ISO)
abietic acid  (ISO)
acadesine  (ISO)
acetamide  (ISO)
actinomycin D  (EXP,ISO)
aflatoxin B1  (EXP)
AICA ribonucleotide  (ISO)
aldehydo-D-glucose  (ISO)
alfacalcidol  (ISO)
all-trans-retinoic acid  (ISO)
allyl alcohol  (ISO)
alpha-amanitin  (ISO)
aluminium hydroxide  (ISO)
amiodarone  (ISO)
amphotericin B  (ISO)
ampicillin  (ISO)
angelicin  (ISO)
antimonite  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
atazanavir sulfate  (EXP)
atorvastatin calcium  (EXP,ISO)
ATP  (EXP,ISO)
azathioprine  (EXP,ISO)
aztreonam  (ISO)
benzbromarone  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzoylaconine  (EXP)
benzoylhypaconine  (EXP)
benzoylmesaconine  (EXP)
benzylpenicillin  (EXP,ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (EXP,ISO)
bezafibrate  (EXP,ISO)
bilirubin IXalpha  (ISO)
biochanin A  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisdemethoxycurcumin  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Boldine  (ISO)
bortezomib  (EXP)
bosentan  (EXP,ISO)
bromfenac  (EXP)
bromosulfophthalein  (EXP)
bromuconazole  (ISO)
bucladesine  (EXP,ISO)
buspirone  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (EXP,ISO)
Butylbenzyl phthalate  (EXP)
cadmium acetate  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
calcein  (EXP)
calcein am  (EXP,ISO)
calcitriol  (EXP,ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
cannabidiol  (ISO)
captan  (ISO)
carbamazepine  (EXP,ISO)
carbon monoxide  (ISO)
carboplatin  (EXP)
carmustine  (EXP)
carvedilol  (ISO)
cefaloridine  (ISO)
cefalotin  (ISO)
celecoxib  (EXP)
cerivastatin  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP,ISO)
chlorambucil  (EXP)
chlordecone  (EXP)
chlorogenic acid  (ISO)
chloroquine  (EXP)
chlorpromazine  (ISO)
chlorpyrifos  (EXP,ISO)
cholic acid  (EXP,ISO)
choline  (ISO)
chrysin  (EXP)
chrysophanol  (ISO)
ciprofloxacin  (ISO)
cisplatin  (EXP,ISO)
citalopram  (EXP)
clavulanic acid  (EXP)
clobazam  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
clotrimazole  (EXP)
colforsin daropate hydrochloride  (EXP)
coniferyl aldehyde  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
curcumin  (EXP,ISO)
cyazofamid  (EXP)
cyclosporin A  (EXP,ISO)
cyproconazole  (ISO)
D-glucose  (ISO)
dapsone  (ISO)
daunorubicin  (EXP)
DDE  (ISO)
DDT  (EXP)
demethoxycurcumin  (EXP)
deoxycholic acid  (EXP,ISO)
desloratadine  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
Diallyl sulfide  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (EXP)
diclofenac  (EXP,ISO)
dicrotophos  (EXP)
dieldrin  (EXP)
diethyl maleate  (ISO)
diethyl phthalate  (EXP)
Dimethyl phthalate  (EXP)
dimethylarsinic acid  (ISO)
Diosbulbin B  (EXP,ISO)
dioscin  (ISO)
diosgenin  (ISO)
dioxygen  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP,ISO)
diquat  (ISO)
disodium selenite  (EXP,ISO)
doramapimod  (ISO)
dorsomorphin  (ISO)
dothiepin  (EXP)
doxorubicin  (ISO)
DPDPE  (ISO)
E3040  (EXP)
elemental selenium  (ISO)
emodin  (ISO)
endosulfan  (EXP,ISO)
enilconazole  (ISO)
epoxiconazole  (ISO)
Erucin  (EXP)
estrone 3-sulfate  (EXP,ISO)
etacrynic acid  (EXP)
ethambutol  (ISO)
ethoxyquin  (ISO)
etoposide  (EXP)
fenofibrate  (ISO)
Fexofenadine hydrochloride  (EXP,ISO)
Finrozole  (EXP)
fipronil  (ISO)
Fluo-3  (ISO)
fluoxetine  (EXP)
flutamide  (ISO)
fluvastatin  (EXP,ISO)
formononetin  (EXP,ISO)
fosinopril  (EXP,ISO)
FR900359  (EXP)
fructose  (ISO)
fulvestrant  (EXP,ISO)
furan  (ISO)
furosemide  (EXP,ISO)
fusidic acid  (ISO)
geneticin  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (ISO)
Ginkgolide A  (EXP)
ginkgolide B  (EXP)
ginsenoside Rb2  (ISO)
ginsenoside Re  (EXP,ISO)
ginsenoside Rg1  (EXP,ISO)
ginsenoside Rg2  (ISO)
glafenine  (ISO)
glucose  (ISO)
glutathione  (EXP,ISO)
glutathione disulfide  (ISO)
glyburide  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
glyphosate  (EXP)
Goe 6976  (EXP,ISO)
gold atom  (EXP)
gold(0)  (EXP)
guggulsterone  (ISO)
GW 4064  (ISO)
hepoxilin A3  (ISO)
heptachlor  (EXP)
Heptachlor epoxide  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
Hypaconitine  (EXP,ISO)
icariside II  (EXP,ISO)
imipenem hydrate  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
irinotecan  (EXP,ISO)
iron(III) nitrilotriacetate  (ISO)
isoniazide  (ISO)
ivermectin  (ISO)
JTE-013  (ISO)
ketoconazole  (EXP,ISO)
kojic acid  (ISO)
KT 5720  (EXP,ISO)
L-ascorbic acid  (EXP,ISO)
L-cysteine  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (EXP)
leukotriene C4  (EXP,ISO)
levetiracetam  (ISO)
lipopolysaccharide  (EXP,ISO)
liquiritin  (ISO)
lithocholic acid  (EXP,ISO)
loperamide  (ISO)
lopinavir  (EXP)
loratadine  (EXP)
lovastatin  (EXP,ISO)
luteolin  (ISO)
LY294002  (EXP)
macitentan  (EXP)
manganese(II) chloride  (ISO)
Maprotiline  (ISO)
Meclizine  (ISO)
mercury atom  (EXP,ISO)
mercury dichloride  (EXP,ISO)
mercury(0)  (EXP,ISO)
Mesaconitine  (EXP)
metformin  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (EXP,ISO)
methoxsalen  (EXP)
methylarsonic acid  (EXP,ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (ISO)
metiram  (EXP)
metronidazole  (ISO)
microcystin LF  (EXP)
microcystin RR  (EXP)
microcystin-LR  (EXP,ISO)
Midecamycin  (EXP,ISO)
mifepristone  (ISO)
MK 571  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
mono(glucosyluronic acid)bilirubin  (ISO)
monosodium L-glutamate  (ISO)
montelukast  (EXP)
Muraglitazar  (ISO)
mycophenolic acid glucuronide  (ISO)
myricetin  (EXP)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP,ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-Acetyl-S-(1,2-dichlorovinyl)-cysteine  (ISO)
N-hydroxy-PhIP  (ISO)
N-nitrosodiethylamine  (ISO)
N-Vinyl-2-pyrrolidone  (ISO)
nelfinavir  (EXP)
neomycin  (ISO)
nifedipine  (ISO)
nimesulide  (ISO)
nitric oxide  (EXP,ISO)
nitrofen  (ISO)
nitrogen dioxide  (EXP)
nocodazole  (EXP)
norgestimate  (EXP)
notoginsenoside R1  (EXP,ISO)
Nutlin-3  (EXP)
obeticholic acid  (ISO)
ochratoxin A  (EXP,ISO)
oleanolic acid  (ISO)
olmesartan  (EXP)
oltipraz  (EXP,ISO)
omeprazole  (EXP)
organoselenium compound  (EXP)
orphenadrine  (ISO)
ortho-Aminoazotoluene  (ISO)
oxaliplatin  (EXP)
p-menthan-3-ol  (ISO)
paclitaxel  (EXP,ISO)
pantoprazole  (EXP)
paracetamol  (EXP,ISO)
parathion  (ISO)
paroxetine  (EXP)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorobutyric acid  (ISO)
perfluorodecanoic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perhexiline  (ISO)
phalloidin  (ISO)
phenethyl isothiocyanate  (EXP)
phenobarbital  (EXP,ISO)
phenol red  (ISO)
phenytoin  (EXP,ISO)
PhIP  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
physcion  (ISO)
piperonyl butoxide  (ISO)
pirfenidone  (ISO)
pirinixic acid  (EXP,ISO)
pitavastatin  (EXP,ISO)
pitavastatin(1-)  (EXP,ISO)
platinum  (EXP)
platinum(0)  (EXP)
pravastatin  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
probenecid  (EXP,ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (EXP)
propane-1,2-diol  (ISO)
protein kinase inhibitor  (ISO)
prothioconazole  (ISO)
Prothioconazole-desthio  (ISO)
Prulifloxacin  (ISO)
psoralen  (ISO)
pyrazinecarboxamide  (ISO)
pyrrolidines  (ISO)
quercetin  (EXP,ISO)
reactive oxygen species  (ISO)
resveratrol  (EXP,ISO)
rifampicin  (EXP,ISO)
robinetin  (EXP)
rosuvastatin calcium  (EXP,ISO)
rotenone  (EXP)
rubitecan  (EXP)
S-(2,4-dinitrophenyl)glutathione  (EXP,ISO)
S-nitrosoglutathione  (ISO)
saquinavir  (EXP)
selenium atom  (ISO)
senecionine  (EXP,ISO)
sevoflurane  (ISO)
simvastatin  (EXP,ISO)
sincalide  (EXP)
sirolimus  (ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium hydrogencarbonate  (ISO)
sodium selenide  (EXP)
sorafenib  (EXP)
soybean oil  (ISO)
spironolactone  (ISO)
stilbene oxide  (ISO)
streptozocin  (ISO)
succimer  (EXP,ISO)
sulfasalazine  (ISO)
sulfinpyrazone  (EXP)
sulforaphane  (EXP,ISO)
sunitinib  (ISO)
Sunset Yellow FCF  (EXP)
tamoxifen  (EXP,ISO)
Tanshinone I  (EXP,ISO)
tartrazine  (EXP)
taurine  (ISO)
tauro-beta-muricholic acid  (ISO)
taurochenodeoxycholic acid  (ISO)
taurocholic acid  (ISO)
taurolithocholic acid  (ISO)
tauroursodeoxycholic acid  (ISO)
tectorigenin  (ISO)
Temocaprilat  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
texas red  (ISO)
Theaflavin 3,3'-digallate  (EXP)
thiacloprid  (ISO)
thioacetamide  (ISO)
thiophanate-methyl  (ISO)
thyroxine  (ISO)
Thyroxine glucuronide  (ISO)
tiagabine  (ISO)
tianeptine  (ISO)
ticlopidine  (EXP,ISO)
titanium dioxide  (EXP)
tolvaptan  (EXP)
topiramate  (ISO)
topotecan  (EXP)
trans-piceid  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimethylarsine oxide  (ISO)
triphenyl phosphate  (EXP,ISO)
Triptolide  (EXP,ISO)
triptonide  (ISO)
troglitazone  (EXP)
tyrphostin AG 1478  (ISO)
uranium atom  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP,ISO)
vadimezan  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
verapamil  (EXP)
vincaleukoblastine  (EXP,ISO)
vincristine  (EXP)
vitamin E  (ISO)
wortmannin  (ISO)
Y-27632  (EXP)
Yangonin  (ISO)
yohimbine  (ISO)
zearalenone  (EXP)
ziram  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
antibiotic metabolic process  (ISO)
benzylpenicillin metabolic process  (ISO)
bile acid and bile salt transport  (IMP)
bilirubin transport  (IMP)
canalicular bile acid transport  (ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to interleukin-1  (ISO)
cellular response to interleukin-6  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to tumor necrosis factor  (ISO)
cellular response to xenobiotic stimulus  (ISO)
detoxification of mercury ion  (ISO)
female pregnancy  (ISO)
heme catabolic process  (TAS)
intracellular chloride ion homeostasis  (ISO)
leukotriene transport  (IMP,ISO)
lipid transport  (IEA)
mercury ion transport  (ISO)
monoatomic anion transmembrane transport  (IEA)
negative regulation of gene expression  (ISS)
organic anion transport  (ISO)
prostaglandin transport  (ISO)
response to antineoplastic agent  (ISO)
response to arsenic-containing substance  (ISO)
response to estradiol  (ISO)
response to estrogen  (ISO)
response to glucagon  (ISO)
response to lipopolysaccharide  (ISO)
response to oxidative stress  (ISO)
response to steroid hormone  (ISO)
response to xenobiotic stimulus  (ISO)
thyroid hormone transport  (ISO)
transepithelial transport  (ISS)
transmembrane transport  (IBA,IEA,TAS)
transport across blood-brain barrier  (NAS)
xenobiotic catabolic process  (ISO)
xenobiotic detoxification by transmembrane export across the plasma membrane  (ISO)
xenobiotic export from cell  (IMP)
xenobiotic metabolic process  (TAS)
xenobiotic transmembrane transport  (IMP)
xenobiotic transport across blood-brain barrier  (ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Clinical impact of ABCC1 and ABCC2 genotypes and haplotypes in mediating imatinib resistance among chronic myeloid leukaemia patients. Au A, etal., J Clin Pharm Ther. 2014 Dec;39(6):685-90. doi: 10.1111/jcpt.12197. Epub 2014 Jul 24.
2. Heat stress enhances recovery of hepatocyte bile acid and organic anion transporters in endotoxemic rats by multiple mechanisms. Bolder U, etal., Cell Stress Chaperones. 2006 Spring;11(1):89-100.
3. cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats. Buchler M, etal., J Biol Chem 1996 Jun 21;271(25):15091-8.
4. Drug-metabolizing enzyme and transporter expression in a mouse model of diabetes and obesity. Cheng Q, etal., Mol Pharm. 2008 Jan-Feb;5(1):77-91. Epub 2008 Jan 12.
5. MRP2 haplotypes confer differential susceptibility to toxic liver injury. Choi JH, etal., Pharmacogenet Genomics. 2007 Jun;17(6):403-15. doi: 10.1097/01.fpc.0000236337.41799.b3.
6. Estradiol-17beta-D-glucuronide induces endocytic internalization of Bsep in rats. Crocenzi FA, etal., Am J Physiol Gastrointest Liver Physiol. 2003 Aug;285(2):G449-59. Epub 2003 Apr 17.
7. Genetic susceptibility to diclofenac-induced hepatotoxicity: contribution of UGT2B7, CYP2C8, and ABCC2 genotypes. Daly AK, etal., Gastroenterology. 2007 Jan;132(1):272-81. doi: 10.1053/j.gastro.2006.11.023. Epub 2006 Nov 17.
8. Consequences of bile duct obstruction on intestinal expression and function of multidrug resistance-associated protein 2. Dietrich CG, etal., Gastroenterology. 2004 Apr;126(4):1044-53.
9. Characterization of organic anion transporter regulation, glutathione metabolism and bile formation in the obese Zucker rat. Geier A, etal., J Hepatol. 2005 Dec;43(6):1021-30. Epub 2005 Jul 1.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Transport of xenobiotics across the blood-brain barrier. Hagenbuch B, etal., News Physiol Sci 2002 Dec;17:231-4.
12. Association of ABCC2 polymorphisms with platinum-based chemotherapy response and severe toxicity in non-small cell lung cancer patients. Han B, etal., Lung Cancer. 2011 May;72(2):238-43. doi: 10.1016/j.lungcan.2010.09.001. Epub 2010 Oct 12.
13. Associations of ABCB1, ABCC2, and ABCG2 polymorphisms with irinotecan-pharmacokinetics and clinical outcome in patients with advanced non-small cell lung cancer. Han JY, etal., Cancer. 2007 Jul 1;110(1):138-47.
14. The pharmacokinetics of morphine and its glucuronide conjugate in a rat model of streptozotocin-induced diabetes and the expression of MRP2, MRP3 and UGT2B1 in the liver. Hasegawa Y, etal., J Pharm Pharmacol. 2010 Mar;62(3):310-4. doi: 10.1211/jpp.62.03.0004.
15. Treatment of hyperbilirubinemia in Eisai hyperbilirubinemic rat by transfecting human MRP2/ABCC2 gene. Hirouchi M, etal., Pharm Res. 2005 Apr;22(4):661-6. Epub 2005 Apr 7.
16. Association of the c.3972C>T variant of the multidrug resistance-associated protein 2 Gene (MRP2/ABCC2) with susceptibility to bile duct cancer. Hoblinger A, etal., Digestion. 2009;80(1):36-9. Epub 2009 May 19.
17. Expression of the multidrug transporter MRP2 in the blood-brain barrier after pilocarpine-induced seizures in rats. Hoffmann K, etal., Epilepsy Res. 2006 Apr;69(1):1-14. Epub 2006 Feb 28.
18. Prospective evaluation of the drug-metabolizing enzyme polymorphisms and toxicity profile of docetaxel in Korean patients with operable lymph node-positive breast cancer receiving adjuvant chemotherapy. Kim KP, etal., Cancer Chemother Pharmacol. 2012 May;69(5):1221-7. doi: 10.1007/s00280-011-1816-4. Epub 2012 Jan 20.
19. Differences in the pharmacokinetics of peroxisome proliferator-activated receptor agonists in genetically obese Zucker and sprague-dawley rats: implications of decreased glucuronidation in obese Zucker rats. Kim MS, etal., Drug Metab Dispos. 2004 Sep;32(9):909-14.
20. Polymorphisms in drug transporter genes (ABCB1, SLCO1B1 and ABCC2) and hepatitis induced by antituberculosis drugs. Kim SH, etal., Tuberculosis (Edinb). 2012 Jan;92(1):100-4. doi: 10.1016/j.tube.2011.09.007. Epub 2011 Dec 16.
21. Association of genetic polymorphisms in SLCO1B3 and ABCC2 with docetaxel-induced leukopenia. Kiyotani K, etal., Cancer Sci. 2008 May;99(5):967-72. doi: 10.1111/j.1349-7006.2008.00765.x. Epub 2008 Feb 19.
22. Increased plasma post-heparin diamine oxidase activity and plant sterol levels in streptozotocin diabetic rat. Kojima H, etal., Biochem Biophys Res Commun. 1992 Jul 15;186(1):398-404.
23. The relationship of polymorphisms in ABCC2 and SLCO1B3 with docetaxel pharmacokinetics and neutropenia: CALGB 60805 (Alliance). Lewis LD, etal., Pharmacogenet Genomics. 2013 Jan;23(1):29-33. doi: 10.1097/FPC.0b013e32835b16d8.
24. Role of AMP-activated protein kinase α1 in 17α-ethinylestradiol-induced cholestasis in rats. Li X, etal., Arch Toxicol. 2017 Jan;91(1):481-494. doi: 10.1007/s00204-016-1697-8. Epub 2016 Apr 18.
25. Association of ABCC2 -24C>T polymorphism with high-dose methotrexate plasma concentrations and toxicities in childhood acute lymphoblastic leukemia. Liu Y, etal., PLoS One. 2014 Jan 3;9(1):e82681. doi: 10.1371/journal.pone.0082681. eCollection 2014.
26. Functional induction of P-glycoprotein in the blood-brain barrier of streptozotocin-induced diabetic rats: evidence for the involvement of nuclear factor-kappaB, a nitrosative stress-sensitive transcription factor, in the regulation. Maeng HJ, etal., Drug Metab Dispos. 2007 Nov;35(11):1996-2005. Epub 2007 Jul 30.
27. 4-Hydroxyacetophenone-induced choleresis in rats is mediated by the Mrp2-dependent biliary secretion of its glucuronide conjugate. Mahagita C, etal., Pharm Res. 2006 Nov;23(11):2603-10. Epub 2006 Sep 29.
28. Metabolism and disposition of acetaminophen: recent advances in relation to hepatotoxicity and diagnosis. McGill MR and Jaeschke H, Pharm Res. 2013 Sep;30(9):2174-87. doi: 10.1007/s11095-013-1007-6. Epub 2013 Mar 6.
29. Down-regulation of intestinal drug transporters in chronic renal failure in rats. Naud J, etal., J Pharmacol Exp Ther. 2007 Mar;320(3):978-85. Epub 2006 Nov 29.
30. Expression of multidrug resistance-associated protein 2 is involved in chemotherapy resistance in human pancreatic cancer. Noma B, etal., Int J Oncol. 2008 Dec;33(6):1187-94.
31. Renal and hepatic transporter expression in type 2 diabetic rats. Nowicki MT, etal., Drug Metab Lett. 2008 Jan;2(1):11-7.
32. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
33. Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene. Paulusma CC, etal., Science 1996 Feb 23;271(5252):1126-8.
34. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
35. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
36. Magnetic resonance imaging with hepatospecific contrast agents in cirrhotic rat livers. Planchamp C, etal., Invest Radiol. 2005 Apr;40(4):187-94.
37. Multidrug resistance protein MRP2 contributes to blood-brain barrier function and restricts antiepileptic drug activity. Potschka H, etal., J Pharmacol Exp Ther 2003 Jul;306(1):124-31.
38. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
39. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
40. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
41. Pharmacogenetics and pharmacogenomics of cholesterol-lowering therapy. Schmitz G, etal., Curr Opin Lipidol. 2007 Apr;18(2):164-73.
42. Polymorphisms of MRP2 (ABCC2) are associated with susceptibility to nonalcoholic fatty liver disease. Sookoian S, etal., J Nutr Biochem. 2009 Oct;20(10):765-70. doi: 10.1016/j.jnutbio.2008.07.005. Epub 2008 Oct 15.
43. Doxorubicin pathways: pharmacodynamics and adverse effects. Thorn CF, etal., Pharmacogenet Genomics. 2011 Jul;21(7):440-6. doi: 10.1097/FPC.0b013e32833ffb56.
44. Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome. Toh S, etal., Am J Hum Genet. 1999 Mar;64(3):739-46.
45. Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. Wada M, etal., Hum Mol Genet. 1998 Feb;7(2):203-7. doi: 10.1093/hmg/7.2.203.
46. Decreased exposure of simvastatin and simvastatin acid in a rat model of type 2 diabetes. Xu D, etal., Acta Pharmacol Sin. 2014 Sep;35(9):1215-25. doi: 10.1038/aps.2014.39. Epub 2014 Aug 25.
47. Function of multidrug resistance-associated protein 2 in acute hepatic failure rats. Yokooji T, etal., Eur J Pharmacol. 2006 Sep 28;546(1-3):152-60. Epub 2006 Jul 5.
48. Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia. Zgheib NK, etal., Pharmacogenet Genomics. 2014 Aug;24(8):387-96. doi: 10.1097/FPC.0000000000000069.
49. Experimental LPS-induced cholestasis alters subcellular distribution and affects colocalization of Mrp2 and Bsep proteins: a quantitative colocalization study. Zinchuk V, etal., Microsc Res Tech. 2005 Jun 1;67(2):65-70.
50. Alterations of canalicular ATP-binding cassette transporter expression in drug-induced liver injury. Zollner G, etal., Digestion. 2014;90(2):81-8. doi: 10.1159/000365003. Epub 2014 Sep 4.
Additional References at PubMed
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Genomics

Comparative Map Data
ABCC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381099,782,640 - 99,852,594 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1099,782,640 - 99,852,594 (+)EnsemblGRCh38hg38GRCh38
GRCh3710101,542,397 - 101,612,351 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610101,532,493 - 101,601,571 (+)NCBINCBI36Build 36hg18NCBI36
Build 3410101,532,562 - 101,601,571NCBI
Celera1095,279,806 - 95,349,643 (+)NCBICelera
Cytogenetic Map10q24.2NCBI
HuRef1095,169,835 - 95,239,503 (+)NCBIHuRef
CHM1_110101,824,911 - 101,894,368 (+)NCBICHM1_1
T2T-CHM13v2.010100,665,562 - 100,736,331 (+)NCBIT2T-CHM13v2.0
Abcc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391943,770,747 - 43,826,771 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1943,770,631 - 43,829,179 (+)EnsemblGRCm39 Ensembl
GRCm381943,782,308 - 43,838,332 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1943,782,192 - 43,840,740 (+)EnsemblGRCm38mm10GRCm38
MGSCv371943,856,798 - 43,912,708 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361943,835,715 - 43,891,248 (+)NCBIMGSCv36mm8
Celera1944,567,463 - 44,621,438 (+)NCBICelera
Cytogenetic Map19C3NCBI
cM Map1936.67NCBI
Abcc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81252,613,875 - 252,672,459 (+)NCBIGRCr8
mRatBN7.21242,664,657 - 242,723,239 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1242,664,657 - 242,723,238 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1250,813,581 - 250,872,198 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01257,510,469 - 257,569,198 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01250,163,726 - 250,222,340 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01263,554,426 - 263,612,556 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1263,554,453 - 263,613,252 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01270,999,832 - 271,057,750 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1238,483,399 - 238,539,595 (+)NCBICelera
Cytogenetic Map1q54NCBI
Abcc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555075,724,762 - 5,790,812 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555075,724,788 - 5,791,281 (+)NCBIChiLan1.0ChiLan1.0
ABCC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28111,665,912 - 111,749,129 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110111,688,214 - 111,755,876 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01096,385,534 - 96,458,571 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11099,889,021 - 99,947,452 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1099,889,160 - 99,947,270 (+)Ensemblpanpan1.1panPan2
ABCC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12812,670,885 - 12,740,124 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2812,670,885 - 12,740,740 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2812,854,192 - 12,923,368 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02813,138,667 - 13,208,016 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2813,138,667 - 13,208,633 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12812,685,440 - 12,754,683 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02812,716,120 - 12,786,599 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02812,857,984 - 12,927,300 (+)NCBIUU_Cfam_GSD_1.0
Abcc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721334,253,163 - 34,302,933 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936636292,709 - 340,393 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936636292,631 - 341,999 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14110,955,582 - 111,038,898 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114110,955,698 - 111,038,898 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214120,400,787 - 120,484,137 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1992,826,423 - 92,902,389 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl992,841,818 - 92,902,265 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604853,844,985 - 53,909,244 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473711,593,864 - 11,688,460 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473711,593,701 - 11,686,790 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCC2
1141 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter) single nucleotide variant ABCC2-related disorder [RCV003415739]|Dubin-Johnson syndrome [RCV000024307]|not provided [RCV000725912] Chr10:99832069 [GRCh38]
Chr10:101591826 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) single nucleotide variant ABCC2-related disorder [RCV004745150]|Dubin-Johnson syndrome [RCV000008923]|not provided [RCV000726727] Chr10:99818820 [GRCh38]
Chr10:101578577 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.2273_2439+1del deletion Dubin-Johnson syndrome [RCV000008924] Chr10:10q24 pathogenic
NM_000392.5(ABCC2):c.1815+2T>A single nucleotide variant Dubin-Johnson syndrome [RCV000008925] Chr10:99808231 [GRCh38]
Chr10:101567988 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2439+2T>C single nucleotide variant Dubin-Johnson syndrome [RCV000008926]|not provided [RCV003555980] Chr10:99818959 [GRCh38]
Chr10:101578716 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4145A>G (p.Gln1382Arg) single nucleotide variant ABCC2-related disorder [RCV003407306]|Dubin-Johnson syndrome [RCV000008927] Chr10:99845781 [GRCh38]
Chr10:101605538 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.1967+2T>C single nucleotide variant Dubin-Johnson syndrome [RCV000008928]|not provided [RCV002512922] Chr10:99811604 [GRCh38]
Chr10:101571361 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe) single nucleotide variant Dubin-Johnson syndrome [RCV000008929]|not provided [RCV000727693] Chr10:99836193 [GRCh38]
Chr10:101595950 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His) single nucleotide variant ABCC2-related disorder [RCV003421913]|Dubin-Johnson syndrome [RCV000008930]|not provided [RCV003574699] Chr10:99836125 [GRCh38]
Chr10:101595882 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.636C>A (p.Ile212=) single nucleotide variant not provided [RCV000728108] Chr10:99797100 [GRCh38]
Chr10:101556857 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.601C>T (p.Leu201=) single nucleotide variant not provided [RCV000729651] Chr10:99794437 [GRCh38]
Chr10:101554194 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3524C>T (p.Ala1175Val) single nucleotide variant not provided [RCV000729712] Chr10:99836200 [GRCh38]
Chr10:101595957 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1610T>C (p.Leu537Pro) single nucleotide variant not provided [RCV000728136] Chr10:99807463 [GRCh38]
Chr10:101567220 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg) single nucleotide variant ABCC2-related disorder [RCV004745566]|Dubin-Johnson syndrome [RCV001106928]|Inborn genetic diseases [RCV003243274]|not provided [RCV000728196] Chr10:99813143 [GRCh38]
Chr10:101572900 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4350T>C (p.Ala1450=) single nucleotide variant not provided [RCV000729485] Chr10:99850638 [GRCh38]
Chr10:101610395 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1319T>G (p.Met440Arg) single nucleotide variant not provided [RCV000729554] Chr10:99804128 [GRCh38]
Chr10:101563885 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) single nucleotide variant ABCC2-related disorder [RCV003965500]|Dubin-Johnson syndrome [RCV001103986]|not provided [RCV000727607] Chr10:99831784 [GRCh38]
Chr10:101591541 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2729G>A (p.Arg910His) single nucleotide variant not provided [RCV000729644] Chr10:99830415 [GRCh38]
Chr10:101590172 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.206A>C (p.Gln69Pro) single nucleotide variant not provided [RCV000728428] Chr10:99784780 [GRCh38]
Chr10:101544537 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3499G>A (p.Val1167Ile) single nucleotide variant not provided [RCV000728429] Chr10:99836175 [GRCh38]
Chr10:101595932 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1014_1017del (p.Ser339fs) deletion not provided [RCV000728712] Chr10:99799351..99799354 [GRCh38]
Chr10:101559108..101559111 [GRCh37]
Chr10:10q24.2		 pathogenic
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q24.2-24.31(chr10:99333940-100475567)x3 copy number gain See cases [RCV000051647] Chr10:99333940..100475567 [GRCh38]
Chr10:101093697..102235324 [GRCh37]
Chr10:101083687..102225314 [NCBI36]
Chr10:10q24.2-24.31		 uncertain significance
GRCh38/hg38 10q24.2(chr10:99716324-99999957)x3 copy number gain See cases [RCV000051649] Chr10:99716324..99999957 [GRCh38]
Chr10:101476081..101759714 [GRCh37]
Chr10:101466071..101749704 [NCBI36]
Chr10:10q24.2		 uncertain significance
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
NM_000392.4(ABCC2):c.1210-993T>A single nucleotide variant Lung cancer [RCV000108522] Chr10:99803026 [GRCh38]
Chr10:101562783 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2352A>G (p.Leu784=) single nucleotide variant not provided [RCV000087168] Chr10:99818870 [GRCh38]
Chr10:101578627 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1032-3C>T single nucleotide variant ABCC2-related disorder [RCV003957515]|Dubin-Johnson syndrome [RCV000363218]|not provided [RCV000306180] Chr10:99800383 [GRCh38]
Chr10:101560140 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) single nucleotide variant ABCC2-related disorder [RCV003917609]|Dubin-Johnson syndrome [RCV001103872]|not provided [RCV000966387]|not specified [RCV000173998] Chr10:99805400 [GRCh38]
Chr10:101565157 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) single nucleotide variant Dubin-Johnson syndrome [RCV000305954]|not provided [RCV000171189] Chr10:99818791 [GRCh38]
Chr10:101578548 [GRCh37]
Chr10:10q24.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1967+1G>A single nucleotide variant ABCC2-related disorder [RCV003965261]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000991170]|not provided [RCV000174845] Chr10:99811603 [GRCh38]
Chr10:99811603..99811604 [GRCh38]
Chr10:101571360 [GRCh37]
Chr10:101571360..101571361 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) single nucleotide variant ABCC2-related disorder [RCV003965274]|Dubin-Johnson syndrome [RCV000378633]|not provided [RCV000947277]|not specified [RCV000176524] Chr10:99836218 [GRCh38]
Chr10:101595975 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3026T>C (p.Ile1009Thr) single nucleotide variant not provided [RCV002261000]|not specified [RCV000176261] Chr10:99831753 [GRCh38]
Chr10:101591510 [GRCh37]
Chr10:10q24.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) single nucleotide variant ABCC2-related disorder [RCV003416080]|not provided [RCV000176262] Chr10:99831628 [GRCh38]
Chr10:101591385 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) single nucleotide variant Dubin-Johnson syndrome [RCV001104272]|not provided [RCV000972073]|not specified [RCV000176368] Chr10:99831980 [GRCh38]
Chr10:101591737 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) single nucleotide variant ABCC2-related disorder [RCV003891729]|Dubin-Johnson syndrome [RCV000396735]|not provided [RCV001640270]|not specified [RCV000176843] Chr10:99844450 [GRCh38]
Chr10:101604207 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu) single nucleotide variant ABCC2-related disorder [RCV003977443]|not provided [RCV000956858]|not specified [RCV000176844] Chr10:99844350 [GRCh38]
Chr10:101604107 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) single nucleotide variant Dubin-Johnson syndrome [RCV001107120]|not provided [RCV000974621]|not specified [RCV000177592] Chr10:99851520 [GRCh38]
Chr10:101611277 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.4509-9T>C single nucleotide variant Dubin-Johnson syndrome [RCV000288644]|not provided [RCV000969855]|not specified [RCV000177593] Chr10:99851493 [GRCh38]
Chr10:101611250 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000392.5(ABCC2):c.3741+1G>A single nucleotide variant ABCC2-related disorder [RCV003895238]|Dubin-Johnson syndrome [RCV000190561]|not provided [RCV000732632] Chr10:99842094 [GRCh38]
Chr10:101601851 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) single nucleotide variant Dubin-Johnson syndrome [RCV001106832]|not provided [RCV000487870]|not specified [RCV000179756] Chr10:99797306 [GRCh38]
Chr10:101557063 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.867+8T>C single nucleotide variant not provided [RCV002515282]|not specified [RCV000179757] Chr10:99797339 [GRCh38]
Chr10:101557096 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3298C>T (p.Arg1100Cys) single nucleotide variant Dubin-Johnson syndrome [RCV001107034]|not provided [RCV000597201] Chr10:99834419 [GRCh38]
Chr10:101594176 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh38/hg38 10q24.2-24.31(chr10:99386632-100648221)x3 copy number gain See cases [RCV000135650] Chr10:99386632..100648221 [GRCh38]
Chr10:101146389..102407978 [GRCh37]
Chr10:101136379..102397968 [NCBI36]
Chr10:10q24.2-24.31		 uncertain significance
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) single nucleotide variant ABCC2-related disorder [RCV003416085]|not provided [RCV000176916] Chr10:99845711 [GRCh38]
Chr10:101605468 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.258A>G (p.Val86=) single nucleotide variant not provided [RCV000177058] Chr10:99792284 [GRCh38]
Chr10:101552041 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile) single nucleotide variant not provided [RCV000176457] Chr10:99834500 [GRCh38]
Chr10:101594257 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) single nucleotide variant Dubin-Johnson syndrome [RCV003989494]|not provided [RCV000177443] Chr10:99846993 [GRCh38]
Chr10:101606750 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4314C>T (p.Ser1438=) single nucleotide variant not provided [RCV000177511] Chr10:99850602 [GRCh38]
Chr10:101610359 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2125T>C (p.Trp709Arg) single nucleotide variant not provided [RCV000391369] Chr10:99817338 [GRCh38]
Chr10:101577095 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.150C>T (p.His50=) single nucleotide variant ABCC2-related disorder [RCV003930181]|Dubin-Johnson syndrome [RCV000301266]|not provided [RCV000311346] Chr10:99784724 [GRCh38]
Chr10:101544481 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys) single nucleotide variant ABCC2-related disorder [RCV003947846]|Dubin-Johnson syndrome [RCV000274873]|not provided [RCV000761746]|not specified [RCV000318770] Chr10:99830429 [GRCh38]
Chr10:101590186 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) single nucleotide variant Dubin-Johnson syndrome [RCV000364711]|not provided [RCV000393844] Chr10:99819262 [GRCh38]
Chr10:101579019 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1013_1014del (p.Val338fs) microsatellite Dubin-Johnson syndrome [RCV000203293] Chr10:99799350..99799351 [GRCh38]
Chr10:101559107..101559108 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3973G>A (p.Gly1325Ser) single nucleotide variant Dubin-Johnson syndrome [RCV000315231]|not provided [RCV000401910] Chr10:99844451 [GRCh38]
Chr10:101604208 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.974C>G (p.Ser325Ter) single nucleotide variant ABCC2-related disorder [RCV003409423]|Dubin-Johnson syndrome [RCV005033854]|not provided [RCV000343826] Chr10:99799313 [GRCh38]
Chr10:101559070 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3888C>G (p.Ser1296Arg) single nucleotide variant ABCC2-related disorder [RCV004745321]|Dubin-Johnson syndrome [RCV000350050]|not provided [RCV000322326] Chr10:99844366 [GRCh38]
Chr10:101604123 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) single nucleotide variant Dubin-Johnson syndrome [RCV000356174]|not provided [RCV000954134]|not specified [RCV000385072] Chr10:99784733 [GRCh38]
Chr10:101544490 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000392.5(ABCC2):c.1446C>G (p.Thr482=) single nucleotide variant ABCC2-related disorder [RCV003891849]|Dubin-Johnson syndrome [RCV000335035]|not provided [RCV002519878] Chr10:99804255 [GRCh38]
Chr10:101564012 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile) single nucleotide variant ABCC2-related disorder [RCV003891848]|Dubin-Johnson syndrome [RCV000333965]|not provided [RCV001723837]|not specified [RCV000254241] Chr10:99804058 [GRCh38]
Chr10:101563815 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3258+56T>C single nucleotide variant Dubin-Johnson syndrome [RCV001549150]|not provided [RCV001694095] Chr10:99832187 [GRCh38]
Chr10:101591944 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) single nucleotide variant Dubin-Johnson syndrome [RCV000343982]|not provided [RCV000731993] Chr10:99836252 [GRCh38]
Chr10:101596009 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.732G>A (p.Thr244=) single nucleotide variant Dubin-Johnson syndrome [RCV000302570]|not provided [RCV003765745] Chr10:99797196 [GRCh38]
Chr10:101556953 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3988-15G>C single nucleotide variant Dubin-Johnson syndrome [RCV000369950]|not provided [RCV003765748] Chr10:99845609 [GRCh38]
Chr10:101605366 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.2883+11C>T single nucleotide variant Dubin-Johnson syndrome [RCV000370662]|not provided [RCV003105860] Chr10:99830862 [GRCh38]
Chr10:101590619 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.1008G>A (p.Thr336=) single nucleotide variant Dubin-Johnson syndrome [RCV000266370]|not provided [RCV003546504] Chr10:99799347 [GRCh38]
Chr10:101559104 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3239T>C (p.Ile1080Thr) single nucleotide variant Dubin-Johnson syndrome [RCV000371422] Chr10:99832112 [GRCh38]
Chr10:101591869 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4062C>T (p.Ala1354=) single nucleotide variant ABCC2-related disorder [RCV003920217]|Dubin-Johnson syndrome [RCV000398427]|not provided [RCV000953305] Chr10:99845698 [GRCh38]
Chr10:101605455 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.-43A>G single nucleotide variant Dubin-Johnson syndrome [RCV000349075] Chr10:99782802 [GRCh38]
Chr10:101542559 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu) single nucleotide variant ABCC2-related disorder [RCV003967851]|Dubin-Johnson syndrome [RCV000288970]|not provided [RCV001711894] Chr10:99836239 [GRCh38]
Chr10:99836239..99836240 [GRCh38]
Chr10:101595996 [GRCh37]
Chr10:101595996..101595997 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.1032-14C>A single nucleotide variant Dubin-Johnson syndrome [RCV000307403]|not provided [RCV003765746] Chr10:99800372 [GRCh38]
Chr10:101560129 [GRCh37]
Chr10:10q24.2		 benign|uncertain significance
NM_000392.5(ABCC2):c.1058G>A (p.Arg353His) single nucleotide variant ABCC2-related disorder [RCV003977851]|Dubin-Johnson syndrome [RCV000273329]|not provided [RCV000969591] Chr10:99800412 [GRCh38]
Chr10:101560169 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.4544G>A (p.Cys1515Tyr) single nucleotide variant ABCC2-related disorder [RCV003977854]|Dubin-Johnson syndrome [RCV000329504]|not provided [RCV001723883] Chr10:99851537 [GRCh38]
Chr10:99851537..99851538 [GRCh38]
Chr10:101611294 [GRCh37]
Chr10:101611294..101611295 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) single nucleotide variant ABCC2-related disorder [RCV003977852]|Dubin-Johnson syndrome [RCV000377651]|not provided [RCV000592572] Chr10:99836168 [GRCh38]
Chr10:101595925 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4508+12G>A single nucleotide variant Dubin-Johnson syndrome [RCV000380729]|not provided [RCV001653466] Chr10:99850808 [GRCh38]
Chr10:101610565 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile) single nucleotide variant Dubin-Johnson syndrome [RCV000275779]|Inborn genetic diseases [RCV002522138] Chr10:99831795 [GRCh38]
Chr10:101591552 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro) single nucleotide variant Dubin-Johnson syndrome [RCV000310100]|not provided [RCV002261035] Chr10:99819237 [GRCh38]
Chr10:101578994 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2747+5G>A single nucleotide variant ABCC2-related disorder [RCV003950001]|Dubin-Johnson syndrome [RCV000311340]|not provided [RCV003574734] Chr10:99830438 [GRCh38]
Chr10:101590195 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000392.5(ABCC2):c.-24C>T single nucleotide variant ABCC2-related disorder [RCV003977850]|Dubin-Johnson syndrome [RCV000404794]|not provided [RCV001683197]|not specified [RCV000727831] Chr10:99782821 [GRCh38]
Chr10:101542578 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.33+13A>G single nucleotide variant Dubin-Johnson syndrome [RCV000295257]|not provided [RCV003765742] Chr10:99782890 [GRCh38]
Chr10:101542647 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.*259G>T single nucleotide variant Dubin-Johnson syndrome [RCV000294442] Chr10:99851890 [GRCh38]
Chr10:101611647 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.57G>A (p.Pro19=) single nucleotide variant Dubin-Johnson syndrome [RCV000336230]|not provided [RCV003765743] Chr10:99784631 [GRCh38]
Chr10:101544388 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3256G>A (p.Gly1086Ser) single nucleotide variant Dubin-Johnson syndrome [RCV000263290] Chr10:99832129 [GRCh38]
Chr10:101591886 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1346T>C (p.Val449Ala) single nucleotide variant Dubin-Johnson syndrome [RCV000280205] Chr10:99804155 [GRCh38]
Chr10:101563912 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1250T>C (p.Val417Ala) single nucleotide variant Dubin-Johnson syndrome [RCV000388608]|not provided [RCV003698758] Chr10:99804059 [GRCh38]
Chr10:101563816 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1815+4G>A single nucleotide variant Dubin-Johnson syndrome [RCV000281020]|not provided [RCV000882755] Chr10:99808233 [GRCh38]
Chr10:101567990 [GRCh37]
Chr10:10q24.2		 benign|uncertain significance
NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu) single nucleotide variant ABCC2-related disorder [RCV003409463]|Dubin-Johnson syndrome [RCV000340687]|Inborn genetic diseases [RCV003243059]|not provided [RCV000597846] Chr10:99810178 [GRCh38]
Chr10:101569935 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4110C>T (p.Leu1370=) single nucleotide variant ABCC2-related disorder [RCV003920218]|Dubin-Johnson syndrome [RCV000297651]|not provided [RCV000962045] Chr10:99845746 [GRCh38]
Chr10:101605503 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3357C>T (p.Ala1119=) single nucleotide variant ABCC2-related disorder [RCV003967850]|Dubin-Johnson syndrome [RCV000318469]|not provided [RCV002520525] Chr10:99834478 [GRCh38]
Chr10:101594235 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000392.5(ABCC2):c.4290G>T (p.Val1430=) single nucleotide variant Dubin-Johnson syndrome [RCV000262521]|not provided [RCV001711895] Chr10:99847104 [GRCh38]
Chr10:101606861 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.4454A>G (p.His1485Arg) single nucleotide variant ABCC2-related disorder [RCV003417962]|Dubin-Johnson syndrome [RCV000266434] Chr10:99850742 [GRCh38]
Chr10:101610499 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) single nucleotide variant Dubin-Johnson syndrome [RCV000283239]|not provided [RCV000594302] Chr10:99836176 [GRCh38]
Chr10:101595933 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2095-6A>G single nucleotide variant Dubin-Johnson syndrome [RCV000394126]|not provided [RCV000924497] Chr10:99817302 [GRCh38]
Chr10:101577059 [GRCh37]
Chr10:10q24.2		 benign|uncertain significance
NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg) single nucleotide variant Dubin-Johnson syndrome [RCV000394137]|not provided [RCV002520524] Chr10:99819195 [GRCh38]
Chr10:101578952 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3690A>C (p.Arg1230Ser) single nucleotide variant ABCC2-related disorder [RCV004745324]|not provided [RCV000302237] Chr10:99842042 [GRCh38]
Chr10:101601799 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2620+10_2620+12del microsatellite ABCC2-related disorder [RCV003949959]|not provided [RCV000371416] Chr10:99819276..99819278 [GRCh38]
Chr10:101579033..101579035 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser) single nucleotide variant ABCC2-related disorder [RCV003947845]|Dubin-Johnson syndrome [RCV001104274]|not provided [RCV000761749]|not specified [RCV000372140] Chr10:99832061 [GRCh38]
Chr10:101591818 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.4410G>A (p.Glu1470=) single nucleotide variant ABCC2-related disorder [RCV003920219]|Dubin-Johnson syndrome [RCV000322330]|not provided [RCV001618515] Chr10:99850698 [GRCh38]
Chr10:101610455 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.577-3C>T single nucleotide variant Dubin-Johnson syndrome [RCV002272207]|not provided [RCV000271732] Chr10:99794410 [GRCh38]
Chr10:101554167 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2499T>C (p.Val833=) single nucleotide variant ABCC2-related disorder [RCV003897652]|not provided [RCV000272750] Chr10:99819148 [GRCh38]
Chr10:101578905 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2461A>G (p.Ser821Gly) single nucleotide variant ABCC2-related disorder [RCV003949923]|Inborn genetic diseases [RCV002518056]|not provided [RCV000305806] Chr10:99819110 [GRCh38]
Chr10:101578867 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.718A>G (p.Ser240Gly) single nucleotide variant ABCC2-related disorder [RCV003417915]|Inborn genetic diseases [RCV004021295]|not provided [RCV000374117] Chr10:99797182 [GRCh38]
Chr10:101556939 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1344T>G (p.Ile448Met) single nucleotide variant not provided [RCV000307388] Chr10:99804153 [GRCh38]
Chr10:101563910 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4488C>T (p.His1496=) single nucleotide variant ABCC2-related disorder [RCV003977853]|Dubin-Johnson syndrome [RCV000323839]|not provided [RCV001636856] Chr10:99850776 [GRCh38]
Chr10:99850776..99850777 [GRCh38]
Chr10:101610533 [GRCh37]
Chr10:101610533..101610534 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) single nucleotide variant Dubin-Johnson syndrome [RCV001104271]|not provided [RCV000309931] Chr10:99831808 [GRCh38]
Chr10:101591565 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn) single nucleotide variant Dubin-Johnson syndrome [RCV000375624]|Inborn genetic diseases [RCV002520523]|not provided [RCV001473723] Chr10:99807455 [GRCh38]
Chr10:101567212 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val) single nucleotide variant ABCC2-related disorder [RCV003977742]|Dubin-Johnson syndrome [RCV001103982]|not provided [RCV000761748]|not specified [RCV000387053] Chr10:99831671 [GRCh38]
Chr10:101591428 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1233C>T (p.Ala411=) single nucleotide variant Dubin-Johnson syndrome [RCV000274269] Chr10:99804042 [GRCh38]
Chr10:101563799 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.577-11G>T single nucleotide variant Dubin-Johnson syndrome [RCV000401825]|not provided [RCV003765744] Chr10:99794402 [GRCh38]
Chr10:101554159 [GRCh37]
Chr10:10q24.2		 benign|uncertain significance
NM_000392.5(ABCC2):c.1183G>A (p.Ala395Thr) single nucleotide variant not provided [RCV000283003] Chr10:99800537 [GRCh38]
Chr10:101560294 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.650A>C (p.Tyr217Ser) single nucleotide variant ABCC2-related disorder [RCV003417925]|Inborn genetic diseases [RCV004021324]|not provided [RCV000317880] Chr10:99797114 [GRCh38]
Chr10:101556871 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2641G>A (p.Glu881Lys) single nucleotide variant not provided [RCV000286258] Chr10:99830327 [GRCh38]
Chr10:101590084 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) single nucleotide variant ABCC2-related disorder [RCV003930193]|Dubin-Johnson syndrome [RCV002504026]|not provided [RCV000390732] Chr10:99850636 [GRCh38]
Chr10:101610393 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3399_3400del (p.Tyr1134fs) deletion Dubin-Johnson syndrome [RCV000853302]|not provided [RCV000366725] Chr10:99834519..99834520 [GRCh38]
Chr10:101594276..101594277 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4146+11G>C single nucleotide variant Dubin-Johnson syndrome [RCV000357319]|not provided [RCV001698665] Chr10:99845793 [GRCh38]
Chr10:101605550 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) single nucleotide variant Dubin-Johnson syndrome [RCV000406012]|not provided [RCV000731436] Chr10:99842000 [GRCh38]
Chr10:101601757 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His) single nucleotide variant ABCC2-related disorder [RCV003967805]|not provided [RCV000358934] Chr10:99845707 [GRCh38]
Chr10:101605464 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1321C>A (p.Leu441Met) single nucleotide variant not provided [RCV000396189]|not specified [RCV004782347] Chr10:99804130 [GRCh38]
Chr10:101563887 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3436C>T (p.Arg1146Cys) single nucleotide variant not provided [RCV000259265] Chr10:99836112 [GRCh38]
Chr10:101595869 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2813G>A (p.Ser938Asn) single nucleotide variant ABCC2-related disorder [RCV003967713]|Dubin-Johnson syndrome [RCV001107594]|not provided [RCV000761747]|not specified [RCV000292976] Chr10:99830781 [GRCh38]
Chr10:101590538 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) single nucleotide variant ABCC2-related disorder [RCV003391033]|Dubin-Johnson syndrome [RCV001104372]|not provided [RCV000326654] Chr10:99850718 [GRCh38]
Chr10:101610475 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2715A>T (p.Arg905Ser) single nucleotide variant not provided [RCV000363336] Chr10:99830401 [GRCh38]
Chr10:101590158 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.764G>A (p.Arg255Gln) single nucleotide variant Dubin-Johnson syndrome [RCV000361972] Chr10:99797228 [GRCh38]
Chr10:101556985 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) single nucleotide variant ABCC2-related disorder [RCV003977741]|Dubin-Johnson syndrome [RCV001104157]|not provided [RCV000761745]|not specified [RCV000263569] Chr10:99813123 [GRCh38]
Chr10:101572880 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000392.5(ABCC2):c.3547C>A (p.Leu1183Met) single nucleotide variant ABCC2-related disorder [RCV004745323]|not provided [RCV000330137] Chr10:99836223 [GRCh38]
Chr10:101595980 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.469-9T>C single nucleotide variant ABCC2-related disorder [RCV003920172]|not provided [RCV000329647] Chr10:99793883 [GRCh38]
Chr10:101553640 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1219C>T (p.Leu407=) single nucleotide variant Dubin-Johnson syndrome [RCV000387489]|not provided [RCV000888829] Chr10:99804028 [GRCh38]
Chr10:101563785 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=) single nucleotide variant not provided [RCV000264219] Chr10:99850737 [GRCh38]
Chr10:101610494 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1464+4A>C single nucleotide variant not provided [RCV000404133] Chr10:99804277 [GRCh38]
Chr10:101564034 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) deletion Dubin-Johnson syndrome [RCV000342000]|not provided [RCV000726880] Chr10:99818880..99818881 [GRCh38]
Chr10:101578637..101578638 [GRCh37]
Chr10:10q24.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3614+6G>C single nucleotide variant ABCC2-related disorder [RCV003967717]|not provided [RCV000333671] Chr10:99836296 [GRCh38]
Chr10:101596053 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) single nucleotide variant Dubin-Johnson syndrome [RCV001106834]|not provided [RCV000335417] Chr10:99799346 [GRCh38]
Chr10:101559103 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4494C>G (p.Ile1498Met) single nucleotide variant not provided [RCV000408321] Chr10:99850782 [GRCh38]
Chr10:101610539 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) deletion ABCC2-related disorder [RCV004745501]|Dubin-Johnson syndrome [RCV005034178]|not provided [RCV000593913] Chr10:99846986..99846991 [GRCh38]
Chr10:101606743..101606748 [GRCh37]
Chr10:10q24.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1882C>T (p.Arg628Ter) single nucleotide variant Dubin-Johnson syndrome [RCV001781703]|not provided [RCV003772135] Chr10:99810200 [GRCh38]
Chr10:101569957 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2504G>A (p.Gly835Glu) single nucleotide variant ABCC2-related disorder [RCV003424167]|not provided [RCV000597720] Chr10:99819153 [GRCh38]
Chr10:101578910 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2056G>A (p.Gly686Arg) single nucleotide variant not provided [RCV000598148] Chr10:99813106 [GRCh38]
Chr10:101572863 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1249_1250inv (p.Val417Thr) inversion not provided [RCV000595341] Chr10:99804058..99804059 [GRCh38]
Chr10:101563815..101563816 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3337del (p.Val1114fs) deletion Dubin-Johnson syndrome [RCV003129872]|not provided [RCV000489957] Chr10:99834456 [GRCh38]
Chr10:101594213 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.3424G>C (p.Val1142Leu) single nucleotide variant not provided [RCV000595615] Chr10:99836100 [GRCh38]
Chr10:101595857 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.*116del deletion Dubin-Johnson syndrome [RCV000386440] Chr10:99851746 [GRCh38]
Chr10:101611503 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3815T>C (p.Ile1272Thr) single nucleotide variant Dubin-Johnson syndrome [RCV000309246] Chr10:99843872 [GRCh38]
Chr10:101603629 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4447T>G (p.Phe1483Val) single nucleotide variant Dubin-Johnson syndrome [RCV000358500] Chr10:99850735 [GRCh38]
Chr10:101610492 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.108C>T (p.Pro36=) single nucleotide variant Dubin-Johnson syndrome [RCV000395737] Chr10:99784682 [GRCh38]
Chr10:101544439 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1209+15G>A single nucleotide variant Dubin-Johnson syndrome [RCV000328309]|not provided [RCV003765747] Chr10:99800578 [GRCh38]
Chr10:101560335 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.136T>C (p.Trp46Arg) single nucleotide variant not provided [RCV000596062] Chr10:99784710 [GRCh38]
Chr10:101544467 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys) single nucleotide variant Inborn genetic diseases [RCV004024867]|not provided [RCV000596161] Chr10:99830400 [GRCh38]
Chr10:101590157 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3500dup (p.Ser1168fs) duplication not provided [RCV000598363] Chr10:99836175..99836176 [GRCh38]
Chr10:101595932..101595933 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2408T>C (p.Val803Ala) single nucleotide variant not provided [RCV000591756] Chr10:99818926 [GRCh38]
Chr10:101578683 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4357C>T (p.Arg1453Trp) single nucleotide variant ABCC2-related disorder [RCV003935607]|not provided [RCV000592178] Chr10:99850645 [GRCh38]
Chr10:101610402 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3599G>A (p.Trp1200Ter) single nucleotide variant not provided [RCV000592247] Chr10:99836275 [GRCh38]
Chr10:101596032 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=) single nucleotide variant ABCC2-related disorder [RCV003952962]|not provided [RCV000591797] Chr10:99836237 [GRCh38]
Chr10:101595994 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) single nucleotide variant ABCC2-related disorder [RCV003915708]|not provided [RCV000592310] Chr10:99811585 [GRCh38]
Chr10:101571342 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3987+10G>A single nucleotide variant not provided [RCV000592319] Chr10:99844475 [GRCh38]
Chr10:101604232 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=) single nucleotide variant not provided [RCV000592328] Chr10:99850686 [GRCh38]
Chr10:101610443 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) single nucleotide variant ABCC2-related disorder [RCV003962708]|not provided [RCV000592621] Chr10:99836174 [GRCh38]
Chr10:101595931 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.99G>A (p.Val33=) single nucleotide variant not provided [RCV000592655] Chr10:99784673 [GRCh38]
Chr10:101544430 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4382A>G (p.Asp1461Gly) single nucleotide variant ABCC2-related disorder [RCV004745493]|not provided [RCV000596586] Chr10:99850670 [GRCh38]
Chr10:101610427 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) single nucleotide variant not provided [RCV000592846] Chr10:99792332 [GRCh38]
Chr10:101552089 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3258+1G>A single nucleotide variant ABCC2-related disorder [RCV004745495]|Dubin-Johnson syndrome [RCV004760639]|not provided [RCV000593091] Chr10:99832132 [GRCh38]
Chr10:101591889 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.2755T>A (p.Ser919Thr) single nucleotide variant Dubin-Johnson syndrome [RCV000763637]|not provided [RCV000593116] Chr10:99830723 [GRCh38]
Chr10:101590480 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) single nucleotide variant ABCC2-related disorder [RCV003945404]|Dubin-Johnson syndrome [RCV001106833]|not provided [RCV000597972] Chr10:99799337 [GRCh38]
Chr10:101559094 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=) single nucleotide variant not provided [RCV000593239] Chr10:99844351 [GRCh38]
Chr10:101604108 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3944T>G (p.Leu1315Arg) single nucleotide variant not provided [RCV000598185] Chr10:99844422 [GRCh38]
Chr10:101604179 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2686G>A (p.Glu896Lys) single nucleotide variant ABCC2-related disorder [RCV004745499]|not provided [RCV000593294] Chr10:99830372 [GRCh38]
Chr10:101590129 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) single nucleotide variant ABCC2-related disorder [RCV004745496]|not provided [RCV000593327] Chr10:99844405 [GRCh38]
Chr10:101604162 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.4(ABCC2):c.2322dup (p.Thr775Tyrfs) duplication not provided [RCV000593455] Chr10:99818839..99818840 [GRCh38]
Chr10:101578596..101578597 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) single nucleotide variant ABCC2-related disorder [RCV003980111]|Dubin-Johnson syndrome [RCV001103871]|not provided [RCV000596235] Chr10:99804266 [GRCh38]
Chr10:101564023 [GRCh37]
Chr10:10q24.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2732G>A (p.Arg911Gln) single nucleotide variant ABCC2-related disorder [RCV003411442]|not provided [RCV000593589] Chr10:99830418 [GRCh38]
Chr10:101590175 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.470G>T (p.Gly157Val) single nucleotide variant not provided [RCV000596785] Chr10:99793893 [GRCh38]
Chr10:101553650 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2426del (p.Leu809fs) deletion not provided [RCV000596798] Chr10:99818944 [GRCh38]
Chr10:101578701 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.208G>A (p.Val70Ile) single nucleotide variant Inborn genetic diseases [RCV004024738]|not provided [RCV000596839] Chr10:99792234 [GRCh38]
Chr10:101551991 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=) single nucleotide variant not provided [RCV000730434] Chr10:99804255 [GRCh38]
Chr10:101564012 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1651C>T (p.Gln551Ter) single nucleotide variant not provided [RCV000597526] Chr10:99807504 [GRCh38]
Chr10:101567261 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) single nucleotide variant Dubin-Johnson syndrome [RCV002491212]|not provided [RCV000591203] Chr10:99836197 [GRCh38]
Chr10:101595954 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln) single nucleotide variant ABCC2-related disorder [RCV004745494]|Dubin-Johnson syndrome [RCV001104275]|not provided [RCV000591217] Chr10:99832109 [GRCh38]
Chr10:101591866 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=) single nucleotide variant not provided [RCV000591263] Chr10:99836201 [GRCh38]
Chr10:101595958 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1696G>A (p.Val566Ile) single nucleotide variant Dubin-Johnson syndrome [RCV002506440]|not provided [RCV000591348] Chr10:99808110 [GRCh38]
Chr10:101567867 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2855_2858del (p.Ile952fs) deletion not provided [RCV000591396] Chr10:99830820..99830823 [GRCh38]
Chr10:101590577..101590580 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1835G>A (p.Arg612Gln) single nucleotide variant Inborn genetic diseases [RCV004024848]|not provided [RCV000591495] Chr10:99810153 [GRCh38]
Chr10:101569910 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3493G>A (p.Glu1165Lys) single nucleotide variant not provided [RCV000592076] Chr10:99836169 [GRCh38]
Chr10:101595926 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.697dup (p.Met233fs) duplication not provided [RCV000730197] Chr10:99797160..99797161 [GRCh38]
Chr10:101556917..101556918 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2343C>G (p.Ile781Met) single nucleotide variant not provided [RCV000730200] Chr10:99818861 [GRCh38]
Chr10:101578618 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.855T>C (p.Asp285=) single nucleotide variant ABCC2-related disorder [RCV003953309]|not provided [RCV000729963] Chr10:99797319 [GRCh38]
Chr10:101557076 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3741+1G>T single nucleotide variant ABCC2-related disorder [RCV004745568]|Dubin-Johnson syndrome [RCV001784362]|not provided [RCV000730539] Chr10:99842094 [GRCh38]
Chr10:101601851 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.2306T>C (p.Ile769Thr) single nucleotide variant ABCC2-related disorder [RCV003953316]|not provided [RCV000730645] Chr10:99818824 [GRCh38]
Chr10:101578581 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3008G>T (p.Trp1003Leu) single nucleotide variant Dubin-Johnson syndrome [RCV000763638]|not provided [RCV000595438] Chr10:99831735 [GRCh38]
Chr10:101591492 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2789C>T (p.Ser930Phe) single nucleotide variant not provided [RCV000731038] Chr10:99830757 [GRCh38]
Chr10:101590514 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3009G>C (p.Trp1003Cys) single nucleotide variant not provided [RCV000731138] Chr10:99831736 [GRCh38]
Chr10:101591493 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1585C>T (p.Arg529Trp) single nucleotide variant not provided [RCV000732012] Chr10:99807438 [GRCh38]
Chr10:101567195 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3422_3423del (p.Tyr1141fs) deletion not provided [RCV000732039] Chr10:99836097..99836098 [GRCh38]
Chr10:101595854..101595855 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4317A>G (p.Ile1439Met) single nucleotide variant not provided [RCV000732050] Chr10:99850605 [GRCh38]
Chr10:101610362 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3615G>A (p.Arg1205=) single nucleotide variant Inborn genetic diseases [RCV003362928]|not provided [RCV000733078] Chr10:99841967 [GRCh38]
Chr10:101601724 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3796A>G (p.Ile1266Val) single nucleotide variant not provided [RCV000734342] Chr10:99843853 [GRCh38]
Chr10:101603610 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3442C>G (p.Leu1148Val) single nucleotide variant not provided [RCV000728465] Chr10:99836118 [GRCh38]
Chr10:101595875 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2139C>T (p.Gly713=) single nucleotide variant not provided [RCV000729563] Chr10:99817352 [GRCh38]
Chr10:101577109 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4159T>C (p.Phe1387Leu) single nucleotide variant not provided [RCV000731290] Chr10:99846973 [GRCh38]
Chr10:101606730 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe) single nucleotide variant ABCC2-related disorder [RCV003955471]|Dubin-Johnson syndrome [RCV001103774]|not provided [RCV000733111] Chr10:99782867 [GRCh38]
Chr10:101542624 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.417G>T (p.Ser139=) single nucleotide variant not provided [RCV000733865] Chr10:99793634 [GRCh38]
Chr10:101553391 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) single nucleotide variant ABCC2-related disorder [RCV003915719]|Dubin-Johnson syndrome [RCV001106831]|not provided [RCV000595396] Chr10:99797200 [GRCh38]
Chr10:101556957 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3021T>C (p.Ser1007=) single nucleotide variant not provided [RCV000735148] Chr10:99831748 [GRCh38]
Chr10:101591505 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3583A>G (p.Lys1195Glu) single nucleotide variant not provided [RCV000728525] Chr10:99836259 [GRCh38]
Chr10:101596016 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3472_3473del (p.Pro1158fs) deletion not provided [RCV000728551] Chr10:99836146..99836147 [GRCh38]
Chr10:101595903..101595904 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2303G>A (p.Arg768Gln) single nucleotide variant Inborn genetic diseases [RCV002536413]|not provided [RCV000728567] Chr10:99818821 [GRCh38]
Chr10:101578578 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1751C>A (p.Thr584Asn) single nucleotide variant not provided [RCV000730201] Chr10:99808165 [GRCh38]
Chr10:101567922 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2472T>C (p.Phe824=) single nucleotide variant not provided [RCV000731305] Chr10:99819121 [GRCh38]
Chr10:101578878 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=) single nucleotide variant not provided [RCV000733151] Chr10:99836267 [GRCh38]
Chr10:101596024 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3402T>C (p.Tyr1134=) single nucleotide variant not provided [RCV000733165] Chr10:99834523 [GRCh38]
Chr10:101594280 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1291del (p.Leu431fs) deletion not provided [RCV000730335] Chr10:99804100 [GRCh38]
Chr10:101563857 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3335C>A (p.Thr1112Asn) single nucleotide variant not provided [RCV000730408] Chr10:99834456 [GRCh38]
Chr10:101594213 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1876G>T (p.Ala626Ser) single nucleotide variant not provided [RCV000730427] Chr10:99810194 [GRCh38]
Chr10:101569951 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.908A>G (p.Lys303Arg) single nucleotide variant ABCC2-related disorder [RCV004745571]|Inborn genetic diseases [RCV002535266]|not provided [RCV000732313] Chr10:99799247 [GRCh38]
Chr10:101559004 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1051A>G (p.Ser351Gly) single nucleotide variant Inborn genetic diseases [RCV004949890]|not provided [RCV000733274] Chr10:99800405 [GRCh38]
Chr10:101560162 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3437G>A (p.Arg1146His) single nucleotide variant not provided [RCV000734499] Chr10:99836113 [GRCh38]
Chr10:101595870 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1109C>T (p.Ala370Val) single nucleotide variant Inborn genetic diseases [RCV003258948]|not provided [RCV000728861] Chr10:99800463 [GRCh38]
Chr10:101560220 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3538C>T (p.Gln1180Ter) single nucleotide variant not provided [RCV000728865] Chr10:99836214 [GRCh38]
Chr10:101595971 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4507_4508+2del deletion Dubin-Johnson syndrome [RCV004796294]|not provided [RCV000728866] Chr10:99850795..99850798 [GRCh38]
Chr10:101610552..101610555 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3772A>G (p.Met1258Val) single nucleotide variant not provided [RCV000728895] Chr10:99843829 [GRCh38]
Chr10:101603586 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2325del (p.Tyr776fs) deletion not provided [RCV000728931] Chr10:99818842 [GRCh38]
Chr10:101578599 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4246A>T (p.Lys1416Ter) single nucleotide variant not provided [RCV000728932] Chr10:99847060 [GRCh38]
Chr10:101606817 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.821_822del (p.Pro274fs) deletion not provided [RCV000731442] Chr10:99797285..99797286 [GRCh38]
Chr10:101557042..101557043 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) single nucleotide variant Dubin-Johnson syndrome [RCV001104064]|not provided [RCV000731479] Chr10:99843891 [GRCh38]
Chr10:101603648 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1408delinsTTGG (p.Met470delinsLeuVal) indel not provided [RCV000732370] Chr10:99804217 [GRCh38]
Chr10:101563974 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4555G>A (p.Glu1519Lys) single nucleotide variant not provided [RCV000732384] Chr10:99851548 [GRCh38]
Chr10:101611305 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2942T>C (p.Phe981Ser) single nucleotide variant not provided [RCV000733896] Chr10:99831669 [GRCh38]
Chr10:101591426 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2077G>A (p.Gly693Arg) single nucleotide variant ABCC2-related disorder [RCV004745575]|Dubin-Johnson syndrome [RCV004720281]|not provided [RCV000734633] Chr10:99813127 [GRCh38]
Chr10:101572884 [GRCh37]
Chr10:10q24.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2748-9del deletion not provided [RCV000733323] Chr10:99830705 [GRCh38]
Chr10:101590462 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=) single nucleotide variant not provided [RCV000733331] Chr10:99831784 [GRCh38]
Chr10:101591541 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4546G>A (p.Gly1516Ser) single nucleotide variant not provided [RCV000733334] Chr10:99851539 [GRCh38]
Chr10:101611296 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2963T>A (p.Met988Lys) single nucleotide variant ABCC2-related disorder [RCV004745573]|Dubin-Johnson syndrome [RCV002485929]|not provided [RCV000733335] Chr10:99831690 [GRCh38]
Chr10:101591447 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1586G>A (p.Arg529Gln) single nucleotide variant Dubin-Johnson syndrome [RCV002509526]|not provided [RCV000733363] Chr10:99807439 [GRCh38]
Chr10:101567196 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp) single nucleotide variant not provided [RCV000733388] Chr10:99797227 [GRCh38]
Chr10:101556984 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4039C>T (p.Leu1347Phe) single nucleotide variant not provided [RCV000734730] Chr10:99845675 [GRCh38]
Chr10:101605432 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3011C>T (p.Thr1004Ile) single nucleotide variant not provided [RCV000734740]|not specified [RCV005056495] Chr10:99831738 [GRCh38]
Chr10:101591495 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2443C>T (p.Arg815Ter) single nucleotide variant Dubin-Johnson syndrome [RCV001809792]|not provided [RCV000734741] Chr10:99819092 [GRCh38]
Chr10:101578849 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.330A>G (p.Thr110=) single nucleotide variant not provided [RCV000732560] Chr10:99792356 [GRCh38]
Chr10:101552113 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2747+10C>T single nucleotide variant not provided [RCV000732624] Chr10:99830443 [GRCh38]
Chr10:101590200 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2367T>G (p.Ser789=) single nucleotide variant not provided [RCV000733460] Chr10:99818885 [GRCh38]
Chr10:101578642 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=) single nucleotide variant not provided [RCV000733466] Chr10:99850719 [GRCh38]
Chr10:101610476 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1964G>A (p.Arg655Gln) single nucleotide variant Inborn genetic diseases [RCV003303221]|not provided [RCV000733559] Chr10:99811599 [GRCh38]
Chr10:101571356 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.4079T>C (p.Ile1360Thr) single nucleotide variant not provided [RCV000734158] Chr10:99845715 [GRCh38]
Chr10:101605472 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3373ATC[1] (p.Ile1126del) microsatellite not provided [RCV000734160] Chr10:99834493..99834495 [GRCh38]
Chr10:101594250..101594252 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4240C>T (p.His1414Tyr) single nucleotide variant not provided [RCV000734170] Chr10:99847054 [GRCh38]
Chr10:101606811 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) single nucleotide variant ABCC2-related disorder [RCV003955480]|Dubin-Johnson syndrome [RCV001103870]|not provided [RCV000734778] Chr10:99804243 [GRCh38]
Chr10:101564000 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1178G>A (p.Arg393Gln) single nucleotide variant Inborn genetic diseases [RCV002535396]|not provided [RCV000734795] Chr10:99800532 [GRCh38]
Chr10:101560289 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4439A>G (p.Gln1480Arg) single nucleotide variant not provided [RCV000734837] Chr10:99850727 [GRCh38]
Chr10:101610484 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1769G>A (p.Arg590His) single nucleotide variant Inborn genetic diseases [RCV004027092]|not provided [RCV000734853] Chr10:99808183 [GRCh38]
Chr10:101567940 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3299G>A (p.Arg1100His) single nucleotide variant not provided [RCV000594697] Chr10:99834420 [GRCh38]
Chr10:101594177 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.213C>T (p.Phe71=) single nucleotide variant ABCC2-related disorder [RCV003892636]|not provided [RCV000731535] Chr10:99792239 [GRCh38]
Chr10:101551996 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4581C>T (p.Pro1527=) single nucleotide variant not provided [RCV000731578] Chr10:99851574 [GRCh38]
Chr10:101611331 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3216dup (p.Asp1073Ter) duplication not provided [RCV000731586] Chr10:99832083..99832084 [GRCh38]
Chr10:101591840..101591841 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3580C>T (p.Gln1194Ter) single nucleotide variant not provided [RCV000731631] Chr10:99836256 [GRCh38]
Chr10:101596013 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2149_2151del (p.Asp717del) deletion not provided [RCV000732635] Chr10:99817362..99817364 [GRCh38]
Chr10:101577119..101577121 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1088G>A (p.Cys363Tyr) single nucleotide variant not provided [RCV000732718] Chr10:99800442 [GRCh38]
Chr10:101560199 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1981A>G (p.Ile661Val) single nucleotide variant not provided [RCV000733622] Chr10:99813031 [GRCh38]
Chr10:101572788 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2800C>T (p.Arg934Trp) single nucleotide variant Inborn genetic diseases [RCV004649302]|not provided [RCV000729655] Chr10:99830768 [GRCh38]
Chr10:101590525 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1893C>A (p.Cys631Ter) single nucleotide variant not provided [RCV000729671] Chr10:99810211 [GRCh38]
Chr10:101569968 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2201T>C (p.Leu734Pro) single nucleotide variant not provided [RCV000729786] Chr10:99817414 [GRCh38]
Chr10:101577171 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.517G>A (p.Gly173Arg) single nucleotide variant ABCC2-related disorder [RCV003420309]|Dubin-Johnson syndrome [RCV002493347]|Inborn genetic diseases [RCV004649305]|not provided [RCV000732796] Chr10:99793940 [GRCh38]
Chr10:101553697 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1429A>C (p.Asn477His) single nucleotide variant not provided [RCV000732797] Chr10:99804238 [GRCh38]
Chr10:101563995 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.232C>T (p.Leu78=) single nucleotide variant ABCC2-related disorder [RCV003928243]|not provided [RCV000732811] Chr10:99792258 [GRCh38]
Chr10:101552015 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1968-1G>C single nucleotide variant not provided [RCV000732816] Chr10:99813017 [GRCh38]
Chr10:101572774 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.2303G>C (p.Arg768Pro) single nucleotide variant not provided [RCV000730752] Chr10:99818821 [GRCh38]
Chr10:101578578 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.400C>T (p.Leu134=) single nucleotide variant not provided [RCV000732922] Chr10:99793617 [GRCh38]
Chr10:101553374 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4566A>C (p.Leu1522=) single nucleotide variant not provided [RCV000729070] Chr10:99851559 [GRCh38]
Chr10:101611316 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1792A>G (p.Met598Val) single nucleotide variant not provided [RCV000729170] Chr10:99808206 [GRCh38]
Chr10:101567963 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3811C>T (p.Arg1271Ter) single nucleotide variant not provided [RCV000730799] Chr10:99843868 [GRCh38]
Chr10:101603625 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.655C>T (p.Arg219Cys) single nucleotide variant ABCC2-related disorder [RCV003892630]|not provided [RCV000730834] Chr10:99797119 [GRCh38]
Chr10:101556876 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val) single nucleotide variant Dubin-Johnson syndrome [RCV001103980]|Inborn genetic diseases [RCV003353012]|not provided [RCV000731815] Chr10:99831638 [GRCh38]
Chr10:101591395 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2439+6A>C single nucleotide variant not provided [RCV000731823] Chr10:99818963 [GRCh38]
Chr10:101578720 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1261G>A (p.Val421Met) single nucleotide variant ABCC2-related disorder [RCV003392561]|not provided [RCV000729267] Chr10:99804070 [GRCh38]
Chr10:101563827 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4528G>A (p.Gly1510Arg) single nucleotide variant ABCC2-related disorder [RCV003938102]|not provided [RCV000729305] Chr10:99851521 [GRCh38]
Chr10:101611278 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.682G>A (p.Glu228Lys) single nucleotide variant not provided [RCV000730893] Chr10:99797146 [GRCh38]
Chr10:101556903 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.736A>T (p.Met246Leu) single nucleotide variant not provided [RCV000730899] Chr10:99797200 [GRCh38]
Chr10:101556957 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4538T>C (p.Ile1513Thr) single nucleotide variant not provided [RCV000730904] Chr10:99851531 [GRCh38]
Chr10:101611288 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.207+1G>A single nucleotide variant not provided [RCV000730909] Chr10:99784782 [GRCh38]
Chr10:101544539 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2883G>A (p.Lys961=) single nucleotide variant not provided [RCV000730910] Chr10:99830851 [GRCh38]
Chr10:101590608 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=) single nucleotide variant not provided [RCV000729342] Chr10:99830794 [GRCh38]
Chr10:101590551 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.3752C>T (p.Thr1251Ile) single nucleotide variant not provided [RCV000734929] Chr10:99843809 [GRCh38]
Chr10:101603566 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4046G>C (p.Arg1349Thr) single nucleotide variant not provided [RCV000735014] Chr10:99845682 [GRCh38]
Chr10:101605439 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4239_4240insTC (p.His1414fs) insertion not provided [RCV000595162] Chr10:99847053..99847054 [GRCh38]
Chr10:101606810..101606811 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2260del (p.Ile754fs) deletion ABCC2-related disorder [RCV003396303]|not provided [RCV000728135] Chr10:99817473 [GRCh38]
Chr10:101577230 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter) single nucleotide variant Dubin-Johnson syndrome [RCV000778267]|not provided [RCV000729489] Chr10:99804134 [GRCh38]
Chr10:101563891 [GRCh37]
Chr10:10q24.2		 pathogenic|uncertain significance
NM_000392.5(ABCC2):c.263C>A (p.Thr88Lys) single nucleotide variant not provided [RCV000729561] Chr10:99792289 [GRCh38]
Chr10:101552046 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
NM_000392.5(ABCC2):c.1034T>G (p.Leu345Trp) single nucleotide variant Inborn genetic diseases [RCV003252126]|not provided [RCV003481476] Chr10:99800388 [GRCh38]
Chr10:101560145 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_000392.5(ABCC2):c.2095-7C>T single nucleotide variant not provided [RCV000593929] Chr10:99817301 [GRCh38]
Chr10:101577058 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.476del (p.Asn159fs) deletion not provided [RCV000597758] Chr10:99793898 [GRCh38]
Chr10:101553655 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) single nucleotide variant ABCC2-related disorder [RCV003980079]|not provided [RCV000597912] Chr10:99850783 [GRCh38]
Chr10:101610540 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4580C>T (p.Pro1527Leu) single nucleotide variant not provided [RCV000595681] Chr10:99851573 [GRCh38]
Chr10:101611330 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2151C>A (p.Asp717Glu) single nucleotide variant not provided [RCV000594211] Chr10:99817364 [GRCh38]
Chr10:101577121 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.958A>G (p.Met320Val) single nucleotide variant Inborn genetic diseases [RCV003160057]|not provided [RCV000594270] Chr10:99799297 [GRCh38]
Chr10:101559054 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.2753G>C (p.Arg918Thr) single nucleotide variant not provided [RCV000594276] Chr10:99830721 [GRCh38]
Chr10:101590478 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) single nucleotide variant ABCC2-related disorder [RCV003962673]|Dubin-Johnson syndrome [RCV001103983]|not provided [RCV000595230] Chr10:99831682 [GRCh38]
Chr10:101591439 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.4561del (p.Leu1521fs) deletion not provided [RCV000596569] Chr10:99851554 [GRCh38]
Chr10:101611311 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=) single nucleotide variant not provided [RCV000596621] Chr10:99830386 [GRCh38]
Chr10:101590143 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) single nucleotide variant not provided [RCV000597355] Chr10:99813084 [GRCh38]
Chr10:101572841 [GRCh37]
Chr10:10q24.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.156T>A (p.Tyr52Ter) single nucleotide variant ABCC2-related disorder [RCV003953002]|not provided [RCV000594763] Chr10:99784730 [GRCh38]
Chr10:101544487 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1955C>G (p.Ala652Gly) single nucleotide variant Inborn genetic diseases [RCV003277963] Chr10:99811590 [GRCh38]
Chr10:101571347 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3220_3226del (p.Thr1074fs) deletion not provided [RCV000594004] Chr10:99832091..99832097 [GRCh38]
Chr10:101591848..101591854 [GRCh37]
Chr10:10q24.2		 pathogenic
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
NM_000392.5(ABCC2):c.3082G>A (p.Gly1028Arg) single nucleotide variant ABCC2-related disorder [RCV003403391]|not provided [RCV000594399] Chr10:99831809 [GRCh38]
Chr10:101591566 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3463del (p.Thr1155fs) deletion not provided [RCV000596186] Chr10:99836139 [GRCh38]
Chr10:101595896 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4160T>C (p.Phe1387Ser) single nucleotide variant not provided [RCV000595039] Chr10:99846974 [GRCh38]
Chr10:101606731 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1177C>T (p.Arg393Trp) single nucleotide variant ABCC2-related disorder [RCV004745492]|Dubin-Johnson syndrome [RCV001809690]|not provided [RCV000595125] Chr10:99800531 [GRCh38]
Chr10:101560288 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic|uncertain significance
NM_000392.5(ABCC2):c.339G>A (p.Leu113=) single nucleotide variant ABCC2-related disorder [RCV003900339]|not provided [RCV000597610] Chr10:99793556 [GRCh38]
Chr10:101553313 [GRCh37]
Chr10:10q24.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1007C>G (p.Thr336Arg) single nucleotide variant not provided [RCV000597818] Chr10:99799346 [GRCh38]
Chr10:101559103 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000392.5(ABCC2):c.2997G>A (p.Trp999Ter) single nucleotide variant ABCC2-related disorder [RCV004745581]|Dubin-Johnson syndrome [RCV000779012] Chr10:99831724 [GRCh38]
Chr10:101591481 [GRCh37]
Chr10:10q24.2		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_000392.5(ABCC2):c.4508+6T>C single nucleotide variant not provided [RCV000761750] Chr10:99850802 [GRCh38]
Chr10:101610559 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3987+259T>C single nucleotide variant not provided [RCV001679755] Chr10:99844724 [GRCh38]
Chr10:101604481 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.116A>T (p.Tyr39Phe) single nucleotide variant Dubin-Johnson syndrome [RCV000988441]|not provided [RCV002549711] Chr10:99784690 [GRCh38]
Chr10:101544447 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3396T>C (p.Ile1132=) single nucleotide variant Dubin-Johnson syndrome [RCV001107035]|not provided [RCV000951112] Chr10:99834517 [GRCh38]
Chr10:101594274 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.573A>G (p.Ser191=) single nucleotide variant not provided [RCV000882262] Chr10:99793996 [GRCh38]
Chr10:101553753 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3988-5C>T single nucleotide variant ABCC2-related disorder [RCV003897999]|not provided [RCV000983388] Chr10:99845619 [GRCh38]
Chr10:101605376 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3988-10A>G single nucleotide variant not provided [RCV000923584] Chr10:99845614 [GRCh38]
Chr10:101605371 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.34-8G>A single nucleotide variant Dubin-Johnson syndrome [RCV001103775]|not provided [RCV000879759] Chr10:99784600 [GRCh38]
Chr10:101544357 [GRCh37]
Chr10:10q24.2		 benign|uncertain significance
NM_000392.5(ABCC2):c.208-89C>T single nucleotide variant Dubin-Johnson syndrome [RCV001548913]|not provided [RCV001673185] Chr10:99792145 [GRCh38]
Chr10:101551902 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3104-1G>A single nucleotide variant ABCC2-related disorder [RCV004745582]|Dubin-Johnson syndrome [RCV000779013]|not provided [RCV003660833] Chr10:99831976 [GRCh38]
Chr10:101591733 [GRCh37]
Chr10:10q24.2		 likely pathogenic|uncertain significance
NM_000392.5(ABCC2):c.411del (p.Leu138fs) deletion Dubin-Johnson syndrome [RCV000778266] Chr10:99793627 [GRCh38]
Chr10:101553384 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3817A>G (p.Thr1273Ala) single nucleotide variant Dubin-Johnson syndrome [RCV001107695]|not provided [RCV000965149] Chr10:99843874 [GRCh38]
Chr10:101603631 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.2252T>G (p.Leu751Trp) single nucleotide variant not provided [RCV000840180] Chr10:99817465 [GRCh38]
Chr10:101577222 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs) duplication Dubin-Johnson syndrome [RCV004702575]|Inborn genetic diseases [RCV001267596]|not provided [RCV001009274] Chr10:99847051..99847052 [GRCh38]
Chr10:101606808..101606809 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3025A>G (p.Ile1009Val) single nucleotide variant Dubin-Johnson syndrome [RCV001103985]|Inborn genetic diseases [RCV003346316] Chr10:99831752 [GRCh38]
Chr10:101591509 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2155A>G (p.Ile719Val) single nucleotide variant Dubin-Johnson syndrome [RCV001106929] Chr10:99817368 [GRCh38]
Chr10:101577125 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile) single nucleotide variant ABCC2-related disorder [RCV003973071]|Dubin-Johnson syndrome [RCV001104152]|not provided [RCV003311944] Chr10:99807511 [GRCh38]
Chr10:101567268 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1855G>T (p.Gly619Trp) single nucleotide variant Dubin-Johnson syndrome [RCV001104154] Chr10:99810173 [GRCh38]
Chr10:101569930 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2020G>A (p.Gly674Ser) single nucleotide variant Dubin-Johnson syndrome [RCV001104156] Chr10:99813070 [GRCh38]
Chr10:101572827 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.214G>A (p.Val72Ile) single nucleotide variant Dubin-Johnson syndrome [RCV001105715] Chr10:99792240 [GRCh38]
Chr10:101551997 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.606T>C (p.Ser202=) single nucleotide variant Dubin-Johnson syndrome [RCV001105716]|not provided [RCV003727858] Chr10:99794442 [GRCh38]
Chr10:101554199 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.1900+5A>G single nucleotide variant ABCC2-related disorder [RCV003393093] Chr10:99810223 [GRCh38]
Chr10:101569980 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2248G>C (p.Asp750His) single nucleotide variant Inborn genetic diseases [RCV003240588] Chr10:99817461 [GRCh38]
Chr10:101577218 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.576+155_576+157dup duplication not provided [RCV001667904] Chr10:99794152..99794153 [GRCh38]
Chr10:101553909..101553910 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1669-220A>C single nucleotide variant not provided [RCV001617730] Chr10:99807863 [GRCh38]
Chr10:101567620 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1668+223C>A single nucleotide variant not provided [RCV001714841] Chr10:99807744 [GRCh38]
Chr10:101567501 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.867+241A>C single nucleotide variant not provided [RCV001648184] Chr10:99797572 [GRCh38]
Chr10:101557329 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1815+27C>G single nucleotide variant not provided [RCV001665475] Chr10:99808256 [GRCh38]
Chr10:101568013 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3843+124C>G single nucleotide variant not provided [RCV001682586] Chr10:99844024 [GRCh38]
Chr10:101603781 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3851G>A (p.Trp1284Ter) single nucleotide variant Dubin-Johnson syndrome [RCV000853304] Chr10:99844329 [GRCh38]
Chr10:101604086 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4047A>G (p.Arg1349=) single nucleotide variant not provided [RCV000921566] Chr10:99845683 [GRCh38]
Chr10:101605440 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr) single nucleotide variant Dubin-Johnson syndrome [RCV001104155]|not provided [RCV000879036] Chr10:99813059 [GRCh38]
Chr10:101572816 [GRCh37]
Chr10:10q24.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000392.5(ABCC2):c.1518T>C (p.Leu506=) single nucleotide variant not provided [RCV000901300] Chr10:99805435 [GRCh38]
Chr10:101565192 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2934G>A (p.Ser978=) single nucleotide variant Dubin-Johnson syndrome [RCV001103981]|not provided [RCV000908061] Chr10:99831661 [GRCh38]
Chr10:101591418 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.189A>G (p.Lys63=) single nucleotide variant not provided [RCV000885608] Chr10:99784763 [GRCh38]
Chr10:101544520 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2761G>A (p.Gly921Ser) single nucleotide variant Dubin-Johnson syndrome [RCV001107593]|not provided [RCV000953284] Chr10:99830729 [GRCh38]
Chr10:99830729..99830730 [GRCh38]
Chr10:101590486 [GRCh37]
Chr10:101590486..101590487 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4568A>C (p.Gln1523Pro) single nucleotide variant Dubin-Johnson syndrome [RCV001107121]|not provided [RCV000898527] Chr10:99851561 [GRCh38]
Chr10:101611318 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.2296A>C (p.Lys766Gln) single nucleotide variant Dubin-Johnson syndrome [RCV001106930] Chr10:99818814 [GRCh38]
Chr10:101578571 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1783A>G (p.Met595Val) single nucleotide variant Dubin-Johnson syndrome [RCV001104153] Chr10:99808197 [GRCh38]
Chr10:101567954 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2013C>T (p.Gly671=) single nucleotide variant not provided [RCV000913241] Chr10:99813063 [GRCh38]
Chr10:101572820 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.116= (p.Tyr39=) variation not provided [RCV000956857] Chr10:99784690 [GRCh38]
Chr10:101544447 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=) single nucleotide variant ABCC2-related disorder [RCV003950794]|Dubin-Johnson syndrome [RCV001104273]|not provided [RCV000913964] Chr10:99832020 [GRCh38]
Chr10:101591777 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3615-60T>C single nucleotide variant not provided [RCV001595468] Chr10:99841907 [GRCh38]
Chr10:101601664 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1967+169C>T single nucleotide variant not provided [RCV001658758] Chr10:99811771 [GRCh38]
Chr10:101571528 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4147-175G>C single nucleotide variant not provided [RCV001677461] Chr10:99846786 [GRCh38]
Chr10:101606543 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.2621-139G>A single nucleotide variant not provided [RCV001621717] Chr10:99830168 [GRCh38]
Chr10:101589925 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1669-168G>A single nucleotide variant not provided [RCV001538691] Chr10:99807915 [GRCh38]
Chr10:101567672 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4313+147C>G single nucleotide variant not provided [RCV001608689] Chr10:99847274 [GRCh38]
Chr10:101607031 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3258+271_3258+272insTGTGTGT insertion not provided [RCV001597345] Chr10:99832402..99832403 [GRCh38]
Chr10:101592159..101592160 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3258+271_3258+272del deletion not provided [RCV001676165] Chr10:99832401..99832402 [GRCh38]
Chr10:101592158..101592159 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.868-218G>T single nucleotide variant not provided [RCV001617487] Chr10:99798989 [GRCh38]
Chr10:99798989..99798990 [GRCh38]
Chr10:101558746 [GRCh37]
Chr10:101558746..101558747 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1901-194del deletion not provided [RCV001673964] Chr10:99811330 [GRCh38]
Chr10:101571087 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4147-268T>C single nucleotide variant not provided [RCV001620724] Chr10:99846693 [GRCh38]
Chr10:101606450 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4314-256G>A single nucleotide variant not provided [RCV001654461] Chr10:99850346 [GRCh38]
Chr10:101610103 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3832G>T (p.Val1278Leu) single nucleotide variant Dubin-Johnson syndrome [RCV001107696] Chr10:99843889 [GRCh38]
Chr10:101603646 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1312A>G (p.Met438Val) single nucleotide variant Dubin-Johnson syndrome [RCV001103868] Chr10:99804121 [GRCh38]
Chr10:101563878 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.-23G>A single nucleotide variant Dubin-Johnson syndrome [RCV001103773] Chr10:99782822 [GRCh38]
Chr10:101542579 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4313+11A>C single nucleotide variant Dubin-Johnson syndrome [RCV001104371]|not provided [RCV003769085] Chr10:99847138 [GRCh38]
Chr10:101606895 [GRCh37]
Chr10:10q24.2		 benign|likely benign
NM_000392.5(ABCC2):c.677T>A (p.Val226Asp) single nucleotide variant Dubin-Johnson syndrome [RCV001105717] Chr10:99797141 [GRCh38]
Chr10:101556898 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe) single nucleotide variant ABCC2-related disorder [RCV003973073]|Dubin-Johnson syndrome [RCV001106931]|not provided [RCV002067788] Chr10:99818884 [GRCh38]
Chr10:101578641 [GRCh37]
Chr10:10q24.2		 benign|likely benign|uncertain significance
NM_000392.5(ABCC2):c.1031+4A>G single nucleotide variant ABCC2-related disorder [RCV003405317]|Dubin-Johnson syndrome [RCV005036409]|not provided [RCV003546620] Chr10:99799374 [GRCh38]
Chr10:101559131 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic|uncertain significance
NM_000392.5(ABCC2):c.3259-11C>T single nucleotide variant Dubin-Johnson syndrome [RCV001107033]|not provided [RCV003769099] Chr10:99834369 [GRCh38]
Chr10:101594126 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.1179G>A (p.Arg393=) single nucleotide variant Dubin-Johnson syndrome [RCV001107496]|not provided [RCV003736979] Chr10:99800533 [GRCh38]
Chr10:101560290 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.1209+14G>A single nucleotide variant Dubin-Johnson syndrome [RCV001107497]|not provided [RCV003769104] Chr10:99800577 [GRCh38]
Chr10:101560334 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.2747+12A>G single nucleotide variant Dubin-Johnson syndrome [RCV001107592] Chr10:99830445 [GRCh38]
Chr10:101590202 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3742-12G>C single nucleotide variant Dubin-Johnson syndrome [RCV001107694]|not provided [RCV003769105] Chr10:99843787 [GRCh38]
Chr10:101603544 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3542G>A (p.Arg1181Gln) single nucleotide variant Dubin-Johnson syndrome [RCV001107036] Chr10:99836218 [GRCh38]
Chr10:101595975 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.*201C>T single nucleotide variant Dubin-Johnson syndrome [RCV001107123]|not provided [RCV004718819] Chr10:99851832 [GRCh38]
Chr10:101611589 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.56C>T (p.Pro19Leu) single nucleotide variant ABCC2-related disorder [RCV003963046]|Dubin-Johnson syndrome [RCV001103776]|not provided [RCV003106114] Chr10:99784630 [GRCh38]
Chr10:101544387 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1389C>T (p.Val463=) single nucleotide variant Dubin-Johnson syndrome [RCV001103869] Chr10:99804198 [GRCh38]
Chr10:101563955 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4147-182C>G single nucleotide variant not provided [RCV001684134] Chr10:99846779 [GRCh38]
Chr10:101606536 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4313+213G>A single nucleotide variant not provided [RCV001667519] Chr10:99847340 [GRCh38]
Chr10:101607097 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1031+288A>G single nucleotide variant not provided [RCV001707476] Chr10:99799658 [GRCh38]
Chr10:101559415 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.2095-105T>C single nucleotide variant not provided [RCV001680229] Chr10:99817203 [GRCh38]
Chr10:101576960 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3741+154T>C single nucleotide variant not provided [RCV001678965] Chr10:99842247 [GRCh38]
Chr10:101602004 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4509-266C>A single nucleotide variant not provided [RCV001708942] Chr10:99851236 [GRCh38]
Chr10:101610993 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1901-300C>A single nucleotide variant not provided [RCV001612739] Chr10:99811236 [GRCh38]
Chr10:99811236..99811237 [GRCh38]
Chr10:101570993 [GRCh37]
Chr10:101570993..101570994 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1531-275T>A single nucleotide variant not provided [RCV001696299] Chr10:99807109 [GRCh38]
Chr10:101566866 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.2095-47G>A single nucleotide variant not provided [RCV001648751] Chr10:99817261 [GRCh38]
Chr10:101577018 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4443C>T (p.Asn1481=) single nucleotide variant Dubin-Johnson syndrome [RCV001104373]|not provided [RCV003769086] Chr10:99850731 [GRCh38]
Chr10:101610488 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.169A>C (p.Lys57Gln) single nucleotide variant Dubin-Johnson syndrome [RCV001105714]|Inborn genetic diseases [RCV004649456] Chr10:99784743 [GRCh38]
Chr10:101544500 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2076C>T (p.His692=) single nucleotide variant Dubin-Johnson syndrome [RCV001106927]|not provided [RCV003727859] Chr10:99813126 [GRCh38]
Chr10:101572883 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.2439+12T>C single nucleotide variant Dubin-Johnson syndrome [RCV001106932]|not provided [RCV003769098] Chr10:99818969 [GRCh38]
Chr10:101578726 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.*138T>C single nucleotide variant Dubin-Johnson syndrome [RCV001107122] Chr10:99851769 [GRCh38]
Chr10:101611526 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.*205C>T single nucleotide variant Dubin-Johnson syndrome [RCV001107124] Chr10:99851836 [GRCh38]
Chr10:101611593 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3417G>A (p.Met1139Ile) single nucleotide variant Dubin-Johnson syndrome [RCV001195954] Chr10:99836093 [GRCh38]
Chr10:101595850 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.-89G>A single nucleotide variant Dubin-Johnson syndrome [RCV001107400] Chr10:99782756 [GRCh38]
Chr10:101542513 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.-40T>C single nucleotide variant Dubin-Johnson syndrome [RCV001107401] Chr10:99782805 [GRCh38]
Chr10:101542562 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3732T>G (p.Asn1244Lys) single nucleotide variant Dubin-Johnson syndrome [RCV001107693] Chr10:99842084 [GRCh38]
Chr10:101601841 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2964G>T (p.Met988Ile) single nucleotide variant Dubin-Johnson syndrome [RCV001103984]|Inborn genetic diseases [RCV003243478] Chr10:99831691 [GRCh38]
Chr10:101591448 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4146+154A>G single nucleotide variant not provided [RCV001538775] Chr10:99845936 [GRCh38]
Chr10:99845936..99845937 [GRCh38]
Chr10:101605693 [GRCh37]
Chr10:101605693..101605694 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.351_355dup (p.Tyr119fs) duplication Dubin-Johnson syndrome [RCV001807897] Chr10:99793565..99793566 [GRCh38]
Chr10:101553322..101553323 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.576+1G>A single nucleotide variant ABCC2-related disorder [RCV004746452]|Dubin-Johnson syndrome [RCV001781687]|not provided [RCV003718423] Chr10:99794000 [GRCh38]
Chr10:101553757 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.357C>G (p.Tyr119Ter) single nucleotide variant Dubin-Johnson syndrome [RCV001329847] Chr10:99793574 [GRCh38]
Chr10:101553331 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2501T>C (p.Leu834Pro) single nucleotide variant Dubin-Johnson syndrome [RCV001329846] Chr10:99819150 [GRCh38]
Chr10:101578907 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4508+170A>G single nucleotide variant not provided [RCV001538231] Chr10:99850966 [GRCh38]
Chr10:101610723 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.170A>G (p.Lys57Arg) single nucleotide variant Dubin-Johnson syndrome [RCV001329234] Chr10:99784744 [GRCh38]
Chr10:101544501 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1621C>T (p.Gln541Ter) single nucleotide variant Dubin-Johnson syndrome [RCV005038586]|not provided [RCV003852070] Chr10:99807474 [GRCh38]
Chr10:101567231 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.203A>C (p.Lys68Thr) single nucleotide variant Inborn genetic diseases [RCV003365381]|not provided [RCV001403390] Chr10:99784777 [GRCh38]
Chr10:101544534 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.3414+1G>A single nucleotide variant ABCC2-related disorder [RCV003399193]|not provided [RCV001377258] Chr10:99834536 [GRCh38]
Chr10:101594293 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3615-310T>C single nucleotide variant not provided [RCV001535072] Chr10:99841657 [GRCh38]
Chr10:101601414 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4509-90A>G single nucleotide variant not provided [RCV001681841] Chr10:99851412 [GRCh38]
Chr10:101611169 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4147-35G>A single nucleotide variant not provided [RCV001645831] Chr10:99846926 [GRCh38]
Chr10:101606683 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3844-73A>G single nucleotide variant not provided [RCV001667481] Chr10:99844249 [GRCh38]
Chr10:101604006 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.334-49C>T single nucleotide variant not provided [RCV001686559] Chr10:99793502 [GRCh38]
Chr10:101553259 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1668+148A>G single nucleotide variant not provided [RCV001713967] Chr10:99807669 [GRCh38]
Chr10:101567426 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1900+22T>C single nucleotide variant not provided [RCV001682560] Chr10:99810240 [GRCh38]
Chr10:101569997 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3414+117G>T single nucleotide variant not provided [RCV001680833] Chr10:99834652 [GRCh38]
Chr10:101594409 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.2272-230C>T single nucleotide variant not provided [RCV001670089] Chr10:99818560 [GRCh38]
Chr10:101578317 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3742-34T>C single nucleotide variant not provided [RCV001668108] Chr10:99843765 [GRCh38]
Chr10:101603522 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.2556dup (p.Gly853fs) duplication not provided [RCV001384259] Chr10:99819199..99819200 [GRCh38]
Chr10:101578956..101578957 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_99344461)_(105992004_?)dup duplication not provided [RCV003107322] Chr10:99344461..105992004 [GRCh37]
Chr10:10q24.2-25.1		 uncertain significance
NM_000392.5(ABCC2):c.3403del (p.Val1135fs) deletion Dubin-Johnson syndrome [RCV001785189]|not specified [RCV003487779] Chr10:99834524 [GRCh38]
Chr10:101594281 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NC_000010.10:g.(?_101594137)_(101596047_?)dup duplication not provided [RCV002040732] Chr10:101594137..101596047 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.584_590del (p.Pro194_Ser195insTer) deletion Dubin-Johnson syndrome [RCV002052178]|not provided [RCV003773524] Chr10:99794414..99794420 [GRCh38]
Chr10:101554171..101554177 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NC_000010.10:g.(?_100177321)_(101611388_?)del deletion not provided [RCV001983006] Chr10:100177321..101611388 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3636dup (p.Leu1213fs) duplication Dubin-Johnson syndrome [RCV002052262]|not provided [RCV003660910] Chr10:99841987..99841988 [GRCh38]
Chr10:101601744..101601745 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.516C>T (p.Tyr172=) single nucleotide variant ABCC2-related disorder [RCV004747268]|not provided [RCV003117279] Chr10:99793939 [GRCh38]
Chr10:101553696 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2312T>C (p.Leu771Pro) single nucleotide variant ABCC2-related disorder [RCV004725664]|Dubin-Johnson syndrome [RCV003153180] Chr10:99818830 [GRCh38]
Chr10:101578587 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3614+1G>C single nucleotide variant Dubin-Johnson syndrome [RCV002272767] Chr10:99836291 [GRCh38]
Chr10:101596048 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4220G>C (p.Trp1407Ser) single nucleotide variant ABCC2-related disorder [RCV004747070]|not provided [RCV002261911] Chr10:99847034 [GRCh38]
Chr10:101606791 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2077G>C (p.Gly693Arg) single nucleotide variant Dubin-Johnson syndrome [RCV002289491]|not provided [RCV003774961] Chr10:99813127 [GRCh38]
Chr10:101572884 [GRCh37]
Chr10:10q24.2		 pathogenic|uncertain significance
NM_000392.5(ABCC2):c.2922A>G (p.Ile974Met) single nucleotide variant not provided [RCV002261910] Chr10:99831649 [GRCh38]
Chr10:101591406 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.807_808delinsCT (p.Gly270Ter) indel Dubin-Johnson syndrome [RCV005034436]|not provided [RCV002815447] Chr10:99797271..99797272 [GRCh38]
Chr10:101557028..101557029 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.3302G>C (p.Ser1101Thr) single nucleotide variant Inborn genetic diseases [RCV002836597] Chr10:99834423 [GRCh38]
Chr10:101594180 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4088T>C (p.Val1363Ala) single nucleotide variant Inborn genetic diseases [RCV002945132]|not provided [RCV005099889] Chr10:99845724 [GRCh38]
Chr10:101605481 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1272G>A (p.Met424Ile) single nucleotide variant Inborn genetic diseases [RCV002992989] Chr10:99804081 [GRCh38]
Chr10:101563838 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.416C>T (p.Ser139Leu) single nucleotide variant Inborn genetic diseases [RCV002734438] Chr10:99793633 [GRCh38]
Chr10:101553390 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.577-20G>A single nucleotide variant not provided [RCV002775958] Chr10:99794393 [GRCh38]
Chr10:101554150 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.655C>G (p.Arg219Gly) single nucleotide variant ABCC2-related disorder [RCV003409893]|Inborn genetic diseases [RCV004065928]|not provided [RCV002618796] Chr10:99797119 [GRCh38]
Chr10:101556876 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2723G>A (p.Ser908Asn) single nucleotide variant Inborn genetic diseases [RCV002945123]|not provided [RCV005099888] Chr10:99830409 [GRCh38]
Chr10:101590166 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3475A>G (p.Ile1159Val) single nucleotide variant Inborn genetic diseases [RCV002688613] Chr10:99836151 [GRCh38]
Chr10:101595908 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.464T>C (p.Leu155Ser) single nucleotide variant Inborn genetic diseases [RCV002905985] Chr10:99793681 [GRCh38]
Chr10:101553438 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.969G>A (p.Leu323=) single nucleotide variant not provided [RCV002755419] Chr10:99799308 [GRCh38]
Chr10:101559065 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1295T>A (p.Met432Lys) single nucleotide variant Inborn genetic diseases [RCV002981075] Chr10:99804104 [GRCh38]
Chr10:101563861 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1967+15T>C single nucleotide variant not provided [RCV002781514] Chr10:99811617 [GRCh38]
Chr10:101571374 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1323G>A (p.Leu441=) single nucleotide variant not provided [RCV002847640] Chr10:99804132 [GRCh38]
Chr10:101563889 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2364G>A (p.Leu788=) single nucleotide variant not provided [RCV002662793] Chr10:99818882 [GRCh38]
Chr10:101578639 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1434G>T (p.Ala478=) single nucleotide variant ABCC2-related disorder [RCV003963464]|not provided [RCV002923553] Chr10:99804243 [GRCh38]
Chr10:101564000 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4094T>C (p.Ile1365Thr) single nucleotide variant Inborn genetic diseases [RCV002887242] Chr10:99845730 [GRCh38]
Chr10:101605487 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4103T>C (p.Ile1368Thr) single nucleotide variant ABCC2-related disorder [RCV004747223]|not provided [RCV002637751] Chr10:99845739 [GRCh38]
Chr10:101605496 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.371G>T (p.Cys124Phe) single nucleotide variant Inborn genetic diseases [RCV002784865] Chr10:99793588 [GRCh38]
Chr10:101553345 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4084G>A (p.Gly1362Arg) single nucleotide variant Inborn genetic diseases [RCV002845142] Chr10:99845720 [GRCh38]
Chr10:101605477 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.215T>C (p.Val72Ala) single nucleotide variant Inborn genetic diseases [RCV002821835] Chr10:99792241 [GRCh38]
Chr10:101551998 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3615-20C>T single nucleotide variant not provided [RCV002781070] Chr10:99841947 [GRCh38]
Chr10:101601704 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3535C>G (p.Gln1179Glu) single nucleotide variant not provided [RCV003039145] Chr10:99836211 [GRCh38]
Chr10:101595968 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1815+8G>A single nucleotide variant ABCC2-related disorder [RCV004747148]|not provided [RCV002927074] Chr10:99808237 [GRCh38]
Chr10:101567994 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.1231G>C (p.Ala411Pro) single nucleotide variant Inborn genetic diseases [RCV002823028] Chr10:99804040 [GRCh38]
Chr10:101563797 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1057C>T (p.Arg353Cys) single nucleotide variant Inborn genetic diseases [RCV002694397] Chr10:99800411 [GRCh38]
Chr10:101560168 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3987+16G>A single nucleotide variant not provided [RCV002573915] Chr10:99844481 [GRCh38]
Chr10:101604238 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2094+18T>C single nucleotide variant not provided [RCV002576087] Chr10:99813162 [GRCh38]
Chr10:101572919 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1975C>G (p.Leu659Val) single nucleotide variant Inborn genetic diseases [RCV002830823] Chr10:99813025 [GRCh38]
Chr10:101572782 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2824G>C (p.Asp942His) single nucleotide variant Inborn genetic diseases [RCV002803850] Chr10:99830792 [GRCh38]
Chr10:101590549 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.800A>G (p.Gln267Arg) single nucleotide variant Inborn genetic diseases [RCV002697497] Chr10:99797264 [GRCh38]
Chr10:101557021 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.968T>C (p.Leu323Pro) single nucleotide variant Inborn genetic diseases [RCV002644888] Chr10:99799307 [GRCh38]
Chr10:101559064 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1963C>T (p.Arg655Ter) single nucleotide variant ABCC2-related disorder [RCV004747093]|not provided [RCV002625700] Chr10:99811598 [GRCh38]
Chr10:101571355 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.544T>G (p.Ser182Ala) single nucleotide variant Inborn genetic diseases [RCV002802280] Chr10:99793967 [GRCh38]
Chr10:101553724 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2466G>C (p.Met822Ile) single nucleotide variant Inborn genetic diseases [RCV002767953] Chr10:99819115 [GRCh38]
Chr10:101578872 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.299G>C (p.Arg100Pro) single nucleotide variant Inborn genetic diseases [RCV002809291] Chr10:99792325 [GRCh38]
Chr10:101552082 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3795C>T (p.Asn1265=) single nucleotide variant not provided [RCV002646516] Chr10:99843852 [GRCh38]
Chr10:101603609 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.454C>T (p.Arg152Trp) single nucleotide variant ABCC2-related disorder [RCV003395680]|Inborn genetic diseases [RCV002988052] Chr10:99793671 [GRCh38]
Chr10:101553428 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.513del (p.Tyr172fs) deletion not provided [RCV003009680] Chr10:99793935 [GRCh38]
Chr10:101553692 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1648T>G (p.Phe550Val) single nucleotide variant not provided [RCV002720128] Chr10:99807501 [GRCh38]
Chr10:101567258 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2626G>C (p.Asp876His) single nucleotide variant not provided [RCV003032054] Chr10:99830312 [GRCh38]
Chr10:101590069 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3759C>T (p.Asn1253=) single nucleotide variant not provided [RCV002587257] Chr10:99843816 [GRCh38]
Chr10:101603573 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.817C>T (p.Leu273=) single nucleotide variant not provided [RCV002587931] Chr10:99797281 [GRCh38]
Chr10:101557038 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+2T>C single nucleotide variant not provided [RCV002612736] Chr10:99817486 [GRCh38]
Chr10:101577243 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3612C>A (p.Asn1204Lys) single nucleotide variant Dubin-Johnson syndrome [RCV004797381] Chr10:99836288 [GRCh38]
Chr10:101596045 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1462C>T (p.Gln488Ter) single nucleotide variant Dubin-Johnson syndrome [RCV004797404] Chr10:99804271 [GRCh38]
Chr10:101564028 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4024T>C (p.Ser1342Pro) single nucleotide variant Dubin-Johnson syndrome [RCV004796555] Chr10:99845660 [GRCh38]
Chr10:101605417 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1354A>G (p.Ile452Val) single nucleotide variant Inborn genetic diseases [RCV003174753] Chr10:99804163 [GRCh38]
Chr10:101563920 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2816T>C (p.Leu939Pro) single nucleotide variant Inborn genetic diseases [RCV003214841] Chr10:99830784 [GRCh38]
Chr10:101590541 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.415T>C (p.Ser139Pro) single nucleotide variant Dubin-Johnson syndrome [RCV003139490] Chr10:99793632 [GRCh38]
Chr10:101553389 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.253C>G (p.Leu85Val) single nucleotide variant Inborn genetic diseases [RCV003208381] Chr10:99792279 [GRCh38]
Chr10:101552036 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4466T>G (p.Ile1489Ser) single nucleotide variant Inborn genetic diseases [RCV003200301] Chr10:99850754 [GRCh38]
Chr10:101610511 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2108A>G (p.Tyr703Cys) single nucleotide variant Inborn genetic diseases [RCV003191179] Chr10:99817321 [GRCh38]
Chr10:101577078 [GRCh37]
Chr10:10q24.2		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_000392.5(ABCC2):c.201T>G (p.Ala67=) single nucleotide variant not provided [RCV003422797] Chr10:99784775 [GRCh38]
Chr10:101544532 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2209T>C (p.Cys737Arg) single nucleotide variant ABCC2-related disorder [RCV003397650] Chr10:99817422 [GRCh38]
Chr10:101577179 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1998dup (p.Val667fs) duplication Dubin-Johnson syndrome [RCV003338150]|not provided [RCV003689068] Chr10:99813046..99813047 [GRCh38]
Chr10:101572803..101572804 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.929T>G (p.Leu310Trp) single nucleotide variant Dubin-Johnson syndrome [RCV003337865] Chr10:99799268 [GRCh38]
Chr10:101559025 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3272T>C (p.Val1091Ala) single nucleotide variant Inborn genetic diseases [RCV003344591] Chr10:99834393 [GRCh38]
Chr10:101594150 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.403T>C (p.Phe135Leu) single nucleotide variant Inborn genetic diseases [RCV003383674] Chr10:99793620 [GRCh38]
Chr10:101553377 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1949C>T (p.Ser650Leu) single nucleotide variant Inborn genetic diseases [RCV003349816] Chr10:99811584 [GRCh38]
Chr10:101571341 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2314G>C (p.Ala772Pro) single nucleotide variant Inborn genetic diseases [RCV003384435] Chr10:99818832 [GRCh38]
Chr10:101578589 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.209T>G (p.Val70Gly) single nucleotide variant Inborn genetic diseases [RCV003372154] Chr10:99792235 [GRCh38]
Chr10:101551992 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1531-4T>C single nucleotide variant not provided [RCV003571735] Chr10:99807380 [GRCh38]
Chr10:101567137 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2731C>T (p.Arg911Ter) single nucleotide variant not provided [RCV003873530] Chr10:99830417 [GRCh38]
Chr10:101590174 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4296G>A (p.Glu1432=) single nucleotide variant not provided [RCV003543057] Chr10:99847110 [GRCh38]
Chr10:101606867 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3669C>T (p.Ala1223=) single nucleotide variant not provided [RCV003875286] Chr10:99842021 [GRCh38]
Chr10:101601778 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3516T>C (p.Val1172=) single nucleotide variant not provided [RCV003569679] Chr10:99836192 [GRCh38]
Chr10:101595949 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2121G>A (p.Gln707=) single nucleotide variant not provided [RCV003691817] Chr10:99817334 [GRCh38]
Chr10:101577091 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+7C>T single nucleotide variant not provided [RCV003873404] Chr10:99831837 [GRCh38]
Chr10:101591594 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2884-2A>G single nucleotide variant not provided [RCV003570361] Chr10:99831609 [GRCh38]
Chr10:101591366 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4530G>A (p.Gly1510=) single nucleotide variant not provided [RCV003570192] Chr10:99851523 [GRCh38]
Chr10:101611280 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3742-9T>G single nucleotide variant not provided [RCV003543625] Chr10:99843790 [GRCh38]
Chr10:101603547 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4398G>C (p.Ala1466=) single nucleotide variant not provided [RCV003686337] Chr10:99850686 [GRCh38]
Chr10:101610443 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1209+7A>G single nucleotide variant not provided [RCV003570255] Chr10:99800570 [GRCh38]
Chr10:101560327 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1464+17C>T single nucleotide variant not provided [RCV003543564] Chr10:99804290 [GRCh38]
Chr10:101564047 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1965A>G (p.Arg655=) single nucleotide variant not provided [RCV003875103] Chr10:99811600 [GRCh38]
Chr10:101571357 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3966T>A (p.Cys1322Ter) single nucleotide variant not provided [RCV003543184] Chr10:99844444 [GRCh38]
Chr10:101604201 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.807T>A (p.Ser269=) single nucleotide variant not provided [RCV003874225] Chr10:99797271 [GRCh38]
Chr10:101557028 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1950G>C (p.Ser650=) single nucleotide variant not provided [RCV003570973] Chr10:99811585 [GRCh38]
Chr10:101571342 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2884-16G>A single nucleotide variant not provided [RCV003686312] Chr10:99831595 [GRCh38]
Chr10:101591352 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1816-15del deletion not provided [RCV003686197] Chr10:99810117 [GRCh38]
Chr10:101569874 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1267C>T (p.Leu423=) single nucleotide variant not provided [RCV003571099] Chr10:99804076 [GRCh38]
Chr10:101563833 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1210-14A>C single nucleotide variant not provided [RCV003543077] Chr10:99804005 [GRCh38]
Chr10:101563762 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2805T>C (p.Asn935=) single nucleotide variant not provided [RCV003569017] Chr10:99830773 [GRCh38]
Chr10:101590530 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1210-9T>G single nucleotide variant not provided [RCV003543078] Chr10:99804010 [GRCh38]
Chr10:101563767 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1858del (p.Asp620fs) deletion not provided [RCV003875784] Chr10:99810173 [GRCh38]
Chr10:101569930 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.576+20C>T single nucleotide variant not provided [RCV003826094] Chr10:99794019 [GRCh38]
Chr10:101553776 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.208-20T>C single nucleotide variant not provided [RCV003571328] Chr10:99792214 [GRCh38]
Chr10:101551971 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4313+10C>A single nucleotide variant not provided [RCV003569275] Chr10:99847137 [GRCh38]
Chr10:101606894 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3393C>T (p.Gly1131=) single nucleotide variant not provided [RCV003569529] Chr10:99834514 [GRCh38]
Chr10:101594271 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2621-19C>A single nucleotide variant not provided [RCV003826527] Chr10:99830288 [GRCh38]
Chr10:101590045 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4429A>G (p.Thr1477Ala) single nucleotide variant ABCC2-related disorder [RCV003394348] Chr10:99850717 [GRCh38]
Chr10:101610474 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2057G>A (p.Gly686Glu) single nucleotide variant not provided [RCV003481985] Chr10:99813107 [GRCh38]
Chr10:101572864 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2455A>G (p.Thr819Ala) single nucleotide variant not provided [RCV003481986] Chr10:99819104 [GRCh38]
Chr10:101578861 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2380C>T (p.His794Tyr) single nucleotide variant ABCC2-related disorder [RCV003402855] Chr10:99818898 [GRCh38]
Chr10:101578655 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1356del (p.Phe453fs) deletion Dubin-Johnson syndrome [RCV004818822] Chr10:99804165 [GRCh38]
Chr10:101563922 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3629G>T (p.Arg1210Leu) single nucleotide variant Dubin-Johnson syndrome [RCV004785899] Chr10:99841981 [GRCh38]
Chr10:101601738 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2669G>A (p.Ser890Asn) single nucleotide variant ABCC2-related disorder [RCV004747300]|not provided [RCV003481987] Chr10:99830355 [GRCh38]
Chr10:101590112 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4025C>A (p.Ser1342Tyr) single nucleotide variant Dubin-Johnson syndrome [RCV003486349] Chr10:99845661 [GRCh38]
Chr10:101605418 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.779G>A (p.Arg260Gln) single nucleotide variant ABCC2-related disorder [RCV003418889] Chr10:99797243 [GRCh38]
Chr10:101557000 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4027C>T (p.Leu1343Phe) single nucleotide variant not provided [RCV003422799] Chr10:99845663 [GRCh38]
Chr10:101605420 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4203C>T (p.Tyr1401=) single nucleotide variant not provided [RCV003422800] Chr10:99847017 [GRCh38]
Chr10:101606774 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4144C>T (p.Gln1382Ter) single nucleotide variant ABCC2-related disorder [RCV003412139]|not provided [RCV003778200] Chr10:99845780 [GRCh38]
Chr10:101605537 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.4018A>G (p.Lys1340Glu) single nucleotide variant ABCC2-related disorder [RCV003412325] Chr10:99845654 [GRCh38]
Chr10:101605411 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.334-3C>T single nucleotide variant not provided [RCV003422798] Chr10:99793548 [GRCh38]
Chr10:101553305 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1644C>A (p.Phe548Leu) single nucleotide variant ABCC2-related disorder [RCV003392779]|Inborn genetic diseases [RCV004362861]|not provided [RCV003481502] Chr10:99807497 [GRCh38]
Chr10:101567254 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4040T>C (p.Leu1347Pro) single nucleotide variant ABCC2-related disorder [RCV003405966] Chr10:99845676 [GRCh38]
Chr10:101605433 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2153del (p.Asn718fs) deletion ABCC2-related disorder [RCV003402735]|Dubin-Johnson syndrome [RCV005036790]|not provided [RCV003553920] Chr10:99817365 [GRCh38]
Chr10:101577122 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.2471T>C (p.Phe824Ser) single nucleotide variant ABCC2-related disorder [RCV003402993] Chr10:99819120 [GRCh38]
Chr10:101578877 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.480T>A (p.Ser160=) single nucleotide variant not provided [RCV003827950] Chr10:99793903 [GRCh38]
Chr10:101553660 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2319A>G (p.Arg773=) single nucleotide variant not provided [RCV003827959] Chr10:99818837 [GRCh38]
Chr10:101578594 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3771G>A (p.Arg1257=) single nucleotide variant not provided [RCV003577954] Chr10:99843828 [GRCh38]
Chr10:101603585 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1248C>A (p.Thr416=) single nucleotide variant not provided [RCV003695259] Chr10:99804057 [GRCh38]
Chr10:101563814 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+14G>A single nucleotide variant not provided [RCV003829459] Chr10:99832145 [GRCh38]
Chr10:101591902 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.205del (p.Gln69fs) deletion not provided [RCV003661411] Chr10:99784779 [GRCh38]
Chr10:101544536 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1901-14C>T single nucleotide variant not provided [RCV003662773] Chr10:99811522 [GRCh38]
Chr10:101571279 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.656G>A (p.Arg219His) single nucleotide variant Dubin-Johnson syndrome [RCV003486350] Chr10:99797120 [GRCh38]
Chr10:101556877 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1788T>C (p.Leu596=) single nucleotide variant not provided [RCV003544580] Chr10:99808202 [GRCh38]
Chr10:101567959 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2202G>A (p.Leu734=) single nucleotide variant not provided [RCV003716053] Chr10:99817415 [GRCh38]
Chr10:101577172 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2335T>C (p.Leu779=) single nucleotide variant not provided [RCV003575572] Chr10:99818853 [GRCh38]
Chr10:101578610 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.849C>T (p.Ser283=) single nucleotide variant not provided [RCV003828355] Chr10:99797313 [GRCh38]
Chr10:101557070 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+3A>G single nucleotide variant ABCC2-related disorder [RCV003909170]|not provided [RCV003828506] Chr10:99819272 [GRCh38]
Chr10:101579029 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3100del (p.Gln1034fs) deletion not provided [RCV003696612] Chr10:99831825 [GRCh38]
Chr10:101591582 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2095-1G>A single nucleotide variant not provided [RCV003829501] Chr10:99817307 [GRCh38]
Chr10:101577064 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1758C>T (p.Phe586=) single nucleotide variant not provided [RCV003739227] Chr10:99808172 [GRCh38]
Chr10:101567929 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1038G>C (p.Leu346=) single nucleotide variant not provided [RCV003826334] Chr10:99800392 [GRCh38]
Chr10:101560149 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1031+10C>T single nucleotide variant not provided [RCV003691450] Chr10:99799380 [GRCh38]
Chr10:101559137 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2674G>A (p.Glu892Lys) single nucleotide variant not provided [RCV003831824] Chr10:99830360 [GRCh38]
Chr10:101590117 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.177C>T (p.Ser59=) single nucleotide variant not provided [RCV003877097] Chr10:99784751 [GRCh38]
Chr10:101544508 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1816-18C>T single nucleotide variant not provided [RCV003546426] Chr10:99810116 [GRCh38]
Chr10:101569873 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.633-4C>G single nucleotide variant not provided [RCV003715262] Chr10:99797093 [GRCh38]
Chr10:101556850 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3432C>A (p.Thr1144=) single nucleotide variant not provided [RCV003715273] Chr10:99836108 [GRCh38]
Chr10:101595865 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2814C>T (p.Ser938=) single nucleotide variant not provided [RCV003716444] Chr10:99830782 [GRCh38]
Chr10:101590539 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3195T>A (p.Leu1065=) single nucleotide variant not provided [RCV003576624] Chr10:99832068 [GRCh38]
Chr10:101591825 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3259-1G>A single nucleotide variant not provided [RCV003573150] Chr10:99834379 [GRCh38]
Chr10:101594136 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2994C>G (p.Leu998=) single nucleotide variant not provided [RCV003878587] Chr10:99831721 [GRCh38]
Chr10:101591478 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3885C>A (p.Pro1295=) single nucleotide variant not provided [RCV003574666] Chr10:99844363 [GRCh38]
Chr10:101604120 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3614+7C>A single nucleotide variant not provided [RCV003716512] Chr10:99836297 [GRCh38]
Chr10:101596054 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1683A>G (p.Thr561=) single nucleotide variant not provided [RCV003716519] Chr10:99808097 [GRCh38]
Chr10:101567854 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3614+1G>A single nucleotide variant not provided [RCV003547860] Chr10:99836291 [GRCh38]
Chr10:101596048 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4314-4G>C single nucleotide variant not provided [RCV003687799] Chr10:99850598 [GRCh38]
Chr10:101610355 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.765G>A (p.Arg255=) single nucleotide variant not provided [RCV003687803] Chr10:99797229 [GRCh38]
Chr10:101556986 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3415-17T>G single nucleotide variant not provided [RCV003694019] Chr10:99836074 [GRCh38]
Chr10:101595831 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.577-4T>G single nucleotide variant not provided [RCV003830869] Chr10:99794409 [GRCh38]
Chr10:101554166 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2910C>G (p.Tyr970Ter) single nucleotide variant not provided [RCV003688718] Chr10:99831637 [GRCh38]
Chr10:101591394 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2427G>A (p.Leu809=) single nucleotide variant not provided [RCV003690580] Chr10:99818945 [GRCh38]
Chr10:101578702 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.468+9A>G single nucleotide variant not provided [RCV003577602] Chr10:99793694 [GRCh38]
Chr10:101553451 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1530+12A>G single nucleotide variant not provided [RCV003687517] Chr10:99805459 [GRCh38]
Chr10:101565216 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.903C>A (p.Thr301=) single nucleotide variant not provided [RCV003547670] Chr10:99799242 [GRCh38]
Chr10:101558999 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3987+19G>A single nucleotide variant not provided [RCV003573092] Chr10:99844484 [GRCh38]
Chr10:101604241 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2640A>G (p.Glu880=) single nucleotide variant ABCC2-related disorder [RCV003984448]|not provided [RCV003877728] Chr10:99830326 [GRCh38]
Chr10:101590083 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3390del (p.Gly1131fs) deletion not provided [RCV003688309] Chr10:99834510 [GRCh38]
Chr10:101594267 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.484C>T (p.Leu162=) single nucleotide variant not provided [RCV003694405] Chr10:99793907 [GRCh38]
Chr10:101553664 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1720T>C (p.Leu574=) single nucleotide variant not provided [RCV003575326] Chr10:99808134 [GRCh38]
Chr10:101567891 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1901-10_1901-9dup duplication ABCC2-related disorder [RCV004747381]|not provided [RCV003826060] Chr10:99811522..99811523 [GRCh38]
Chr10:101571279..101571280 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3614+15G>A single nucleotide variant not provided [RCV003692702] Chr10:99836305 [GRCh38]
Chr10:101596062 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.469-18T>C single nucleotide variant not provided [RCV003687065] Chr10:99793874 [GRCh38]
Chr10:101553631 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2458del (p.His820fs) deletion not provided [RCV003544523] Chr10:99819107 [GRCh38]
Chr10:101578864 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1608G>A (p.Leu536=) single nucleotide variant not provided [RCV003572511] Chr10:99807461 [GRCh38]
Chr10:101567218 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4333del (p.Leu1445fs) deletion not provided [RCV003573206] Chr10:99850621 [GRCh38]
Chr10:101610378 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3415-6G>A single nucleotide variant not provided [RCV003694515] Chr10:99836085 [GRCh38]
Chr10:101595842 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1530+16T>C single nucleotide variant not provided [RCV003571978] Chr10:99805463 [GRCh38]
Chr10:101565220 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4264C>T (p.Leu1422=) single nucleotide variant not provided [RCV003689322] Chr10:99847078 [GRCh38]
Chr10:101606835 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3563_3564delinsAA (p.Val1188Glu) indel not provided [RCV003575466] Chr10:99836239..99836240 [GRCh38]
Chr10:101595996..101595997 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.334-13A>C single nucleotide variant not provided [RCV003826340] Chr10:99793538 [GRCh38]
Chr10:101553295 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1746C>T (p.Ser582=) single nucleotide variant not provided [RCV003690478] Chr10:99808160 [GRCh38]
Chr10:101567917 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3975T>C (p.Gly1325=) single nucleotide variant not provided [RCV003689517] Chr10:99844453 [GRCh38]
Chr10:101604210 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3405A>G (p.Val1135=) single nucleotide variant not provided [RCV003572412] Chr10:99834526 [GRCh38]
Chr10:101594283 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+14G>T single nucleotide variant not provided [RCV003575467] Chr10:99832145 [GRCh38]
Chr10:101591902 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4476C>T (p.Ala1492=) single nucleotide variant not provided [RCV003573983] Chr10:99850764 [GRCh38]
Chr10:101610521 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2217C>T (p.Leu739=) single nucleotide variant not provided [RCV003690781] Chr10:99817430 [GRCh38]
Chr10:101577187 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3255C>T (p.Ala1085=) single nucleotide variant ABCC2-related disorder [RCV004747400]|not provided [RCV003876370] Chr10:99832128 [GRCh38]
Chr10:101591885 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.333+14C>A single nucleotide variant not provided [RCV003828966] Chr10:99792373 [GRCh38]
Chr10:101552130 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1995A>G (p.Gln665=) single nucleotide variant not provided [RCV003825806] Chr10:99813045 [GRCh38]
Chr10:101572802 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.984G>A (p.Leu328=) single nucleotide variant not provided [RCV003878818] Chr10:99799323 [GRCh38]
Chr10:101559080 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4059T>C (p.Ala1353=) single nucleotide variant not provided [RCV003690549] Chr10:99845695 [GRCh38]
Chr10:101605452 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1089_1090del (p.Ala364fs) microsatellite not provided [RCV003695224] Chr10:99800441..99800442 [GRCh38]
Chr10:101560198..101560199 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4623C>T (p.Asn1541=) single nucleotide variant not provided [RCV003714830] Chr10:99851616 [GRCh38]
Chr10:101611373 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2832A>G (p.Glu944=) single nucleotide variant not provided [RCV003547963] Chr10:99830800 [GRCh38]
Chr10:101590557 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.34-6C>T single nucleotide variant not provided [RCV003547608] Chr10:99784602 [GRCh38]
Chr10:101544359 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-7C>T single nucleotide variant not provided [RCV003691459] Chr10:99846954 [GRCh38]
Chr10:101606711 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.577-12dup duplication not provided [RCV003713262] Chr10:99794394..99794395 [GRCh38]
Chr10:101554151..101554152 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.546A>C (p.Ser182=) single nucleotide variant not provided [RCV003694467] Chr10:99793969 [GRCh38]
Chr10:101553726 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3150C>T (p.Val1050=) single nucleotide variant not provided [RCV003572550] Chr10:99832023 [GRCh38]
Chr10:101591780 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4242C>T (p.His1414=) single nucleotide variant ABCC2-related disorder [RCV004747309]|not provided [RCV003546287] Chr10:99847056 [GRCh38]
Chr10:101606813 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3414+10G>A single nucleotide variant not provided [RCV003716350] Chr10:99834545 [GRCh38]
Chr10:101594302 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+19G>A single nucleotide variant not provided [RCV003829120] Chr10:99819288 [GRCh38]
Chr10:101579045 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1866G>A (p.Leu622=) single nucleotide variant not provided [RCV003695328] Chr10:99810184 [GRCh38]
Chr10:101569941 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1038G>A (p.Leu346=) single nucleotide variant not provided [RCV003661357] Chr10:99800392 [GRCh38]
Chr10:101560149 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2884-12G>C single nucleotide variant not provided [RCV003824744] Chr10:99831599 [GRCh38]
Chr10:101591356 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3540G>A (p.Gln1180=) single nucleotide variant ABCC2-related disorder [RCV003893452]|not provided [RCV003828732] Chr10:99836216 [GRCh38]
Chr10:101595973 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.577-9G>A single nucleotide variant not provided [RCV003694142] Chr10:99794404 [GRCh38]
Chr10:101554161 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3930A>G (p.Arg1310=) single nucleotide variant not provided [RCV003573693] Chr10:99844408 [GRCh38]
Chr10:101604165 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3857_3860del (p.Thr1286fs) deletion not provided [RCV003714454] Chr10:99844332..99844335 [GRCh38]
Chr10:101604089..101604092 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4086A>T (p.Gly1362=) single nucleotide variant not provided [RCV003712896] Chr10:99845722 [GRCh38]
Chr10:101605479 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2621-12G>A single nucleotide variant not provided [RCV003690310] Chr10:99830295 [GRCh38]
Chr10:101590052 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2250T>C (p.Asp750=) single nucleotide variant not provided [RCV003688368] Chr10:99817463 [GRCh38]
Chr10:101577220 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2931_2995del (p.Phe977fs) deletion not provided [RCV003829202] Chr10:99831657..99831721 [GRCh38]
Chr10:101591414..101591478 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1074G>A (p.Trp358Ter) single nucleotide variant not provided [RCV003572109] Chr10:99800428 [GRCh38]
Chr10:101560185 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.632+10C>T single nucleotide variant not provided [RCV003688415] Chr10:99794478 [GRCh38]
Chr10:101554235 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1669-8C>G single nucleotide variant not provided [RCV003715965] Chr10:99808075 [GRCh38]
Chr10:101567832 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4365C>T (p.Ser1455=) single nucleotide variant not provided [RCV003689837] Chr10:99850653 [GRCh38]
Chr10:101610410 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1321C>T (p.Leu441=) single nucleotide variant not provided [RCV003881525] Chr10:99804130 [GRCh38]
Chr10:101563887 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3741+16G>T single nucleotide variant not provided [RCV003544292] Chr10:99842109 [GRCh38]
Chr10:101601866 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.867+9C>A single nucleotide variant not provided [RCV003544356] Chr10:99797340 [GRCh38]
Chr10:101557097 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.633-13G>A single nucleotide variant not provided [RCV003715221] Chr10:99797084 [GRCh38]
Chr10:101556841 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3988-4G>T single nucleotide variant not provided [RCV003714722] Chr10:99845620 [GRCh38]
Chr10:101605377 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+18G>A single nucleotide variant not provided [RCV003716084] Chr10:99819287 [GRCh38]
Chr10:101579044 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+17G>A single nucleotide variant not provided [RCV003662971] Chr10:99830450 [GRCh38]
Chr10:101590207 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3021T>G (p.Ser1007=) single nucleotide variant not provided [RCV003691626] Chr10:99831748 [GRCh38]
Chr10:101591505 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2272-17A>G single nucleotide variant not provided [RCV003881079] Chr10:99818773 [GRCh38]
Chr10:101578530 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3414+9G>A single nucleotide variant not provided [RCV003880373] Chr10:99834544 [GRCh38]
Chr10:101594301 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3958del (p.Ile1320fs) deletion not provided [RCV003545856] Chr10:99844436 [GRCh38]
Chr10:101604193 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2748-2A>C single nucleotide variant not provided [RCV003713584] Chr10:99830714 [GRCh38]
Chr10:101590471 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.33+7A>T single nucleotide variant not provided [RCV003544951] Chr10:99782884 [GRCh38]
Chr10:101542641 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1464+12G>C single nucleotide variant not provided [RCV003826096] Chr10:99804285 [GRCh38]
Chr10:101564042 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.333+16C>T single nucleotide variant not provided [RCV003692057] Chr10:99792375 [GRCh38]
Chr10:101552132 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1206G>A (p.Lys402=) single nucleotide variant not provided [RCV003687521] Chr10:99800560 [GRCh38]
Chr10:101560317 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4629A>G (p.Thr1543=) single nucleotide variant not provided [RCV003661700] Chr10:99851622 [GRCh38]
Chr10:101611379 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4203C>A (p.Tyr1401Ter) single nucleotide variant not provided [RCV003574678] Chr10:99847017 [GRCh38]
Chr10:101606774 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2580G>A (p.Lys860=) single nucleotide variant not provided [RCV003714050] Chr10:99819229 [GRCh38]
Chr10:101578986 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1655dup (p.Leu552fs) duplication not provided [RCV003712820] Chr10:99807506..99807507 [GRCh38]
Chr10:101567263..101567264 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2862G>A (p.Lys954=) single nucleotide variant not provided [RCV003545449] Chr10:99830830 [GRCh38]
Chr10:101590587 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1659T>C (p.Thr553=) single nucleotide variant not provided [RCV003877491] Chr10:99807512 [GRCh38]
Chr10:101567269 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1842G>A (p.Glu614=) single nucleotide variant not provided [RCV003714911] Chr10:99810160 [GRCh38]
Chr10:101569917 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2361C>T (p.Pro787=) single nucleotide variant not provided [RCV003826970] Chr10:99818879 [GRCh38]
Chr10:101578636 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.633-18G>A single nucleotide variant not provided [RCV003828243] Chr10:99797079 [GRCh38]
Chr10:101556836 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3687_3690del (p.Ile1228_Tyr1229insTer) deletion ABCC2-related disorder [RCV003893457]|not provided [RCV003826327] Chr10:99842038..99842041 [GRCh38]
Chr10:101601795..101601798 [GRCh37]
Chr10:10q24.2		 pathogenic|likely pathogenic
NM_000392.5(ABCC2):c.4509-9T>G single nucleotide variant not provided [RCV003714287] Chr10:99851493 [GRCh38]
Chr10:101611250 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1203_1205del (p.Tyr401_Lys402delinsTer) deletion not provided [RCV003571963] Chr10:99800556..99800558 [GRCh38]
Chr10:101560313..101560315 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.469-13T>C single nucleotide variant not provided [RCV003716377] Chr10:99793879 [GRCh38]
Chr10:101553636 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3798T>C (p.Ile1266=) single nucleotide variant not provided [RCV003825387] Chr10:99843855 [GRCh38]
Chr10:101603612 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3843+18A>C single nucleotide variant not provided [RCV003833694] Chr10:99843918 [GRCh38]
Chr10:101603675 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.468+19G>T single nucleotide variant not provided [RCV003659681] Chr10:99793704 [GRCh38]
Chr10:101553461 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3336C>A (p.Thr1112=) single nucleotide variant not provided [RCV003852241] Chr10:99834457 [GRCh38]
Chr10:101594214 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2799T>C (p.Thr933=) single nucleotide variant not provided [RCV003811817] Chr10:99830767 [GRCh38]
Chr10:101590524 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.417G>A (p.Ser139=) single nucleotide variant not provided [RCV003812127] Chr10:99793634 [GRCh38]
Chr10:101553391 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4285G>T (p.Glu1429Ter) single nucleotide variant not provided [RCV003549863] Chr10:99847099 [GRCh38]
Chr10:101606856 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1248C>T (p.Thr416=) single nucleotide variant not provided [RCV003852369] Chr10:99804057 [GRCh38]
Chr10:101563814 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4104T>C (p.Ile1368=) single nucleotide variant not provided [RCV003579615] Chr10:99845740 [GRCh38]
Chr10:101605497 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1032-12T>C single nucleotide variant not provided [RCV003580732] Chr10:99800374 [GRCh38]
Chr10:101560131 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1815+19T>A single nucleotide variant not provided [RCV003697874] Chr10:99808248 [GRCh38]
Chr10:101568005 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.912T>C (p.Asp304=) single nucleotide variant not provided [RCV003665561] Chr10:99799251 [GRCh38]
Chr10:101559008 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1900+3A>C single nucleotide variant not provided [RCV003831986] Chr10:99810221 [GRCh38]
Chr10:101569978 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.438A>G (p.Gln146=) single nucleotide variant not provided [RCV003664669] Chr10:99793655 [GRCh38]
Chr10:101553412 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+2T>A single nucleotide variant not provided [RCV003697105] Chr10:99832133 [GRCh38]
Chr10:101591890 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2223A>G (p.Pro741=) single nucleotide variant not provided [RCV003663743] Chr10:99817436 [GRCh38]
Chr10:101577193 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3166T>C (p.Leu1056=) single nucleotide variant not provided [RCV003699171] Chr10:99832039 [GRCh38]
Chr10:101591796 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.33+2T>C single nucleotide variant not provided [RCV003851800] Chr10:99782879 [GRCh38]
Chr10:101542636 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.282C>T (p.Ala94=) single nucleotide variant not provided [RCV003549475] Chr10:99792308 [GRCh38]
Chr10:101552065 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1776C>G (p.Pro592=) single nucleotide variant not provided [RCV003851877] Chr10:99808190 [GRCh38]
Chr10:101567947 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1548C>G (p.Ala516=) single nucleotide variant not provided [RCV003663850] Chr10:99807401 [GRCh38]
Chr10:101567158 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2395_2396del (p.Ile799fs) microsatellite not provided [RCV003834342] Chr10:99818911..99818912 [GRCh38]
Chr10:101578668..101578669 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2603del (p.Pro868fs) deletion not provided [RCV003557703] Chr10:99819250 [GRCh38]
Chr10:101579007 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.469-4A>G single nucleotide variant not provided [RCV003717492] Chr10:99793888 [GRCh38]
Chr10:101553645 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.90T>A (p.Thr30=) single nucleotide variant not provided [RCV003697423] Chr10:99784664 [GRCh38]
Chr10:101544421 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2379T>C (p.Ala793=) single nucleotide variant not provided [RCV003549691] Chr10:99818897 [GRCh38]
Chr10:101578654 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2628T>C (p.Asp876=) single nucleotide variant not provided [RCV003835271] Chr10:99830314 [GRCh38]
Chr10:101590071 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+18T>C single nucleotide variant not provided [RCV003835757] Chr10:99832149 [GRCh38]
Chr10:101591906 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+20C>T single nucleotide variant not provided [RCV003850206] Chr10:99831850 [GRCh38]
Chr10:101591607 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.723G>A (p.Lys241=) single nucleotide variant not provided [RCV003549698] Chr10:99797187 [GRCh38]
Chr10:101556944 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4384del (p.Glu1462fs) deletion not provided [RCV003670231] Chr10:99850672 [GRCh38]
Chr10:101610429 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.632+2_632+5del deletion not provided [RCV003837778] Chr10:99794467..99794470 [GRCh38]
Chr10:101554224..101554227 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.633-10C>G single nucleotide variant not provided [RCV003702509] Chr10:99797087 [GRCh38]
Chr10:101556844 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2043A>T (p.Ile681=) single nucleotide variant not provided [RCV003703787] Chr10:99813093 [GRCh38]
Chr10:101572850 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2621-20C>T single nucleotide variant not provided [RCV003697847] Chr10:99830287 [GRCh38]
Chr10:101590044 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3988-15del deletion not provided [RCV003549495] Chr10:99845607 [GRCh38]
Chr10:101605364 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2621-12G>T single nucleotide variant not provided [RCV003673486] Chr10:99830295 [GRCh38]
Chr10:101590052 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3099C>T (p.Ala1033=) single nucleotide variant not provided [RCV003833062] Chr10:99831826 [GRCh38]
Chr10:101591583 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1050A>G (p.Ala350=) single nucleotide variant not provided [RCV003674400] Chr10:99800404 [GRCh38]
Chr10:101560161 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-20C>G single nucleotide variant not provided [RCV003815911] Chr10:99846941 [GRCh38]
Chr10:101606698 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+19_3103+21del deletion not provided [RCV003548179] Chr10:99831849..99831851 [GRCh38]
Chr10:101591606..101591608 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4185C>T (p.Leu1395=) single nucleotide variant not provided [RCV003579692] Chr10:99846999 [GRCh38]
Chr10:101606756 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1032-7C>G single nucleotide variant not provided [RCV003697498] Chr10:99800379 [GRCh38]
Chr10:101560136 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2914C>T (p.Gln972Ter) single nucleotide variant not provided [RCV003669829] Chr10:99831641 [GRCh38]
Chr10:101591398 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3003T>C (p.Ser1001=) single nucleotide variant not provided [RCV003671311] Chr10:99831730 [GRCh38]
Chr10:101591487 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3840T>C (p.Asn1280=) single nucleotide variant not provided [RCV003837269] Chr10:99843897 [GRCh38]
Chr10:101603654 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.208-11T>C single nucleotide variant not provided [RCV003548672] Chr10:99792223 [GRCh38]
Chr10:101551980 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3246C>T (p.Asn1082=) single nucleotide variant not provided [RCV003561955] Chr10:99832119 [GRCh38]
Chr10:101591876 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1733dup (p.Ala579fs) duplication not provided [RCV003671408] Chr10:99808143..99808144 [GRCh38]
Chr10:101567900..101567901 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.627T>A (p.Tyr209Ter) single nucleotide variant not provided [RCV003669879] Chr10:99794463 [GRCh38]
Chr10:101554220 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.469-1G>A single nucleotide variant not provided [RCV003700785] Chr10:99793891 [GRCh38]
Chr10:101553648 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3666A>G (p.Ser1222=) single nucleotide variant not provided [RCV003668737] Chr10:99842018 [GRCh38]
Chr10:101601775 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1752C>G (p.Thr584=) single nucleotide variant not provided [RCV003672836] Chr10:99808166 [GRCh38]
Chr10:101567923 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3104-9C>T single nucleotide variant not provided [RCV003833691] Chr10:99831968 [GRCh38]
Chr10:101591725 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2884-19T>C single nucleotide variant not provided [RCV003851107] Chr10:99831592 [GRCh38]
Chr10:101591349 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.207+12A>G single nucleotide variant not provided [RCV003855673] Chr10:99784793 [GRCh38]
Chr10:101544550 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1901-15G>A single nucleotide variant not provided [RCV003817445] Chr10:99811521 [GRCh38]
Chr10:101571278 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1816-15T>C single nucleotide variant not provided [RCV003856468] Chr10:99810119 [GRCh38]
Chr10:101569876 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1816-12G>T single nucleotide variant not provided [RCV003670372] Chr10:99810122 [GRCh38]
Chr10:101569879 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.942G>T (p.Leu314=) single nucleotide variant not provided [RCV003703427] Chr10:99799281 [GRCh38]
Chr10:101559038 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.633-8T>C single nucleotide variant not provided [RCV003561991] Chr10:99797089 [GRCh38]
Chr10:101556846 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2811T>C (p.Asn937=) single nucleotide variant not provided [RCV003670216] Chr10:99830779 [GRCh38]
Chr10:101590536 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.33+18T>C single nucleotide variant not provided [RCV003670470] Chr10:99782895 [GRCh38]
Chr10:101542652 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1053T>C (p.Ser351=) single nucleotide variant not provided [RCV003671662] Chr10:99800407 [GRCh38]
Chr10:101560164 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4509-10C>G single nucleotide variant not provided [RCV003852605] Chr10:99851492 [GRCh38]
Chr10:101611249 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.942G>C (p.Leu314=) single nucleotide variant not provided [RCV003669880] Chr10:99799281 [GRCh38]
Chr10:101559038 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2760T>C (p.Asn920=) single nucleotide variant not provided [RCV003670138] Chr10:99830728 [GRCh38]
Chr10:101590485 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3648C>T (p.Asn1216=) single nucleotide variant ABCC2-related disorder [RCV003919309]|not provided [RCV003666804] Chr10:99842000 [GRCh38]
Chr10:101601757 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2016T>C (p.Pro672=) single nucleotide variant not provided [RCV003659077] Chr10:99813066 [GRCh38]
Chr10:101572823 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1465-16G>T single nucleotide variant not provided [RCV003673843] Chr10:99805366 [GRCh38]
Chr10:101565123 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.469-2A>G single nucleotide variant not provided [RCV003663749] Chr10:99793890 [GRCh38]
Chr10:101553647 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3957G>C (p.Gly1319=) single nucleotide variant not provided [RCV003670116] Chr10:99844435 [GRCh38]
Chr10:101604192 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2094+7G>A single nucleotide variant not provided [RCV003670992] Chr10:99813151 [GRCh38]
Chr10:101572908 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4508+11G>T single nucleotide variant not provided [RCV003836905] Chr10:99850807 [GRCh38]
Chr10:101610564 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2449T>C (p.Leu817=) single nucleotide variant not provided [RCV003667380] Chr10:99819098 [GRCh38]
Chr10:101578855 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1031+8T>C single nucleotide variant not provided [RCV003814918] Chr10:99799378 [GRCh38]
Chr10:101559135 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1293C>T (p.Leu431=) single nucleotide variant not provided [RCV003700978] Chr10:99804102 [GRCh38]
Chr10:101563859 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4466T>C (p.Ile1489Thr) single nucleotide variant not provided [RCV003838487] Chr10:99850754 [GRCh38]
Chr10:101610511 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3614+13C>A single nucleotide variant not provided [RCV003667494] Chr10:99836303 [GRCh38]
Chr10:101596060 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1845G>A (p.Lys615=) single nucleotide variant ABCC2-related disorder [RCV003893474]|not provided [RCV003838914] Chr10:99810163 [GRCh38]
Chr10:101569920 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+16T>A single nucleotide variant not provided [RCV003666524] Chr10:99819285 [GRCh38]
Chr10:101579042 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1475T>C (p.Met492Thr) single nucleotide variant not provided [RCV003838537] Chr10:99805392 [GRCh38]
Chr10:101565149 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3415-1G>A single nucleotide variant not provided [RCV003839953] Chr10:99836090 [GRCh38]
Chr10:101595847 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4156C>T (p.Leu1386=) single nucleotide variant not provided [RCV003702603] Chr10:99846970 [GRCh38]
Chr10:101606727 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2733A>G (p.Arg911=) single nucleotide variant not provided [RCV003836745] Chr10:99830419 [GRCh38]
Chr10:101590176 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3615-14C>G single nucleotide variant not provided [RCV003560607] Chr10:99841953 [GRCh38]
Chr10:101601710 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.868-9dup duplication not provided [RCV003668968] Chr10:99799194..99799195 [GRCh38]
Chr10:101558951..101558952 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.1900+20_1900+31del deletion not provided [RCV003672999] Chr10:99810237..99810248 [GRCh38]
Chr10:101569994..101570005 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.633-14C>T single nucleotide variant not provided [RCV003817038] Chr10:99797083 [GRCh38]
Chr10:101556840 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3589_3590del (p.Val1197fs) microsatellite not provided [RCV003702847] Chr10:99836262..99836263 [GRCh38]
Chr10:101596019..101596020 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2007G>A (p.Val669=) single nucleotide variant not provided [RCV003667010] Chr10:99813057 [GRCh38]
Chr10:101572814 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.672G>A (p.Glu224=) single nucleotide variant ABCC2-related disorder [RCV003956452]|not provided [RCV003671048] Chr10:99797136 [GRCh38]
Chr10:101556893 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.868-19T>G single nucleotide variant not provided [RCV003854915] Chr10:99799188 [GRCh38]
Chr10:101558945 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.594T>C (p.Ala198=) single nucleotide variant not provided [RCV003673558] Chr10:99794430 [GRCh38]
Chr10:101554187 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2748-7C>T single nucleotide variant not provided [RCV003659542] Chr10:99830709 [GRCh38]
Chr10:101590466 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2440-5dup duplication not provided [RCV003852169] Chr10:99819079..99819080 [GRCh38]
Chr10:101578836..101578837 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.469-5C>T single nucleotide variant not provided [RCV003837047] Chr10:99793887 [GRCh38]
Chr10:101553644 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1110G>A (p.Ala370=) single nucleotide variant ABCC2-related disorder [RCV004747376]|not provided [RCV003816608] Chr10:99800464 [GRCh38]
Chr10:101560221 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.469-20C>G single nucleotide variant not provided [RCV003856017] Chr10:99793872 [GRCh38]
Chr10:101553629 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+20C>A single nucleotide variant not provided [RCV003836995] Chr10:99831850 [GRCh38]
Chr10:101591607 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2706C>G (p.Thr902=) single nucleotide variant not provided [RCV003671147] Chr10:99830392 [GRCh38]
Chr10:101590149 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4482G>A (p.Arg1494=) single nucleotide variant not provided [RCV003672692] Chr10:99850770 [GRCh38]
Chr10:101610527 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3741+13G>C single nucleotide variant not provided [RCV003673643] Chr10:99842106 [GRCh38]
Chr10:101601863 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.577-8T>C single nucleotide variant not provided [RCV003723582] Chr10:99794405 [GRCh38]
Chr10:101554162 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3390T>C (p.Leu1130=) single nucleotide variant not provided [RCV003839121] Chr10:99834511 [GRCh38]
Chr10:101594268 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1575A>G (p.Val525=) single nucleotide variant not provided [RCV003673681] Chr10:99807428 [GRCh38]
Chr10:101567185 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3081C>G (p.Tyr1027Ter) single nucleotide variant not provided [RCV003580466] Chr10:99831808 [GRCh38]
Chr10:101591565 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2440-4A>G single nucleotide variant not provided [RCV003671146] Chr10:99819085 [GRCh38]
Chr10:101578842 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3907A>C (p.Asn1303His) single nucleotide variant not provided [RCV003834974] Chr10:99844385 [GRCh38]
Chr10:101604142 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4C>T (p.Leu2=) single nucleotide variant not provided [RCV003669811] Chr10:99782848 [GRCh38]
Chr10:101542605 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1531-12del deletion not provided [RCV003723877] Chr10:99807365 [GRCh38]
Chr10:101567122 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.4314-11A>G single nucleotide variant not provided [RCV003673155] Chr10:99850591 [GRCh38]
Chr10:101610348 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.868-16T>C single nucleotide variant not provided [RCV003697857] Chr10:99799191 [GRCh38]
Chr10:101558948 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1669-18T>C single nucleotide variant not provided [RCV003834901] Chr10:99808065 [GRCh38]
Chr10:101567822 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3867G>A (p.Arg1289=) single nucleotide variant not provided [RCV003838326] Chr10:99844345 [GRCh38]
Chr10:101604102 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1669-20C>T single nucleotide variant not provided [RCV003672087] Chr10:99808063 [GRCh38]
Chr10:101567820 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.705C>T (p.Thr235=) single nucleotide variant not provided [RCV003811137] Chr10:99797169 [GRCh38]
Chr10:101556926 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1416T>C (p.Leu472=) single nucleotide variant not provided [RCV003665904] Chr10:99804225 [GRCh38]
Chr10:101563982 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+1del deletion not provided [RCV003668096] Chr10:99832132 [GRCh38]
Chr10:101591889 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2754G>A (p.Arg918=) single nucleotide variant not provided [RCV003672797] Chr10:99830722 [GRCh38]
Chr10:101590479 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2307C>T (p.Ile769=) single nucleotide variant not provided [RCV003725558] Chr10:99818825 [GRCh38]
Chr10:101578582 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3415-19_3415-17del deletion not provided [RCV003833805] Chr10:99836070..99836072 [GRCh38]
Chr10:101595827..101595829 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2337A>G (p.Leu779=) single nucleotide variant not provided [RCV003670987] Chr10:99818855 [GRCh38]
Chr10:101578612 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1812C>T (p.Leu604=) single nucleotide variant not provided [RCV003838567] Chr10:99808226 [GRCh38]
Chr10:101567983 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1530+18G>C single nucleotide variant not provided [RCV003560187] Chr10:99805465 [GRCh38]
Chr10:101565222 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2610G>A (p.Glu870=) single nucleotide variant not provided [RCV003664955] Chr10:99819259 [GRCh38]
Chr10:101579016 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2078G>A (p.Gly693Glu) single nucleotide variant ABCC2-related disorder [RCV004723508]|not provided [RCV003837780] Chr10:99813128 [GRCh38]
Chr10:101572885 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1464+18C>T single nucleotide variant not provided [RCV003837140] Chr10:99804291 [GRCh38]
Chr10:101564048 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2272-16T>C single nucleotide variant not provided [RCV003671224] Chr10:99818774 [GRCh38]
Chr10:101578531 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4314-6C>T single nucleotide variant not provided [RCV003580712] Chr10:99850596 [GRCh38]
Chr10:101610353 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1031+14C>A single nucleotide variant not provided [RCV003849930] Chr10:99799384 [GRCh38]
Chr10:101559141 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4509-12T>C single nucleotide variant not provided [RCV003700415] Chr10:99851490 [GRCh38]
Chr10:101611247 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.577-11G>C single nucleotide variant not provided [RCV003700462] Chr10:99794402 [GRCh38]
Chr10:101554159 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2748-1G>T single nucleotide variant not provided [RCV003814739] Chr10:99830715 [GRCh38]
Chr10:101590472 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2802G>T (p.Arg934=) single nucleotide variant not provided [RCV003837878] Chr10:99830770 [GRCh38]
Chr10:101590527 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.6G>A (p.Leu2=) single nucleotide variant not provided [RCV003724573] Chr10:99782850 [GRCh38]
Chr10:101542607 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3126T>C (p.His1042=) single nucleotide variant not provided [RCV003668989] Chr10:99831999 [GRCh38]
Chr10:101591756 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2784A>G (p.Arg928=) single nucleotide variant not provided [RCV003668285] Chr10:99830752 [GRCh38]
Chr10:101590509 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2440-11T>C single nucleotide variant not provided [RCV003560671] Chr10:99819078 [GRCh38]
Chr10:101578835 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.627dup (p.Asp210Ter) duplication not provided [RCV003700569] Chr10:99794462..99794463 [GRCh38]
Chr10:101554219..101554220 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1692T>G (p.Val564=) single nucleotide variant not provided [RCV003838042] Chr10:99808106 [GRCh38]
Chr10:101567863 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4314-20G>T single nucleotide variant not provided [RCV003673082] Chr10:99850582 [GRCh38]
Chr10:101610339 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3414_3414+1delinsAT indel not provided [RCV003558179] Chr10:99834535..99834536 [GRCh38]
Chr10:101594292..101594293 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.615C>G (p.Thr205=) single nucleotide variant not provided [RCV003851812] Chr10:99794451 [GRCh38]
Chr10:101554208 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1695T>G (p.Tyr565Ter) single nucleotide variant not provided [RCV003837779] Chr10:99808109 [GRCh38]
Chr10:101567866 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1465-4G>T single nucleotide variant not provided [RCV003701668] Chr10:99805378 [GRCh38]
Chr10:101565135 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3555C>T (p.His1185=) single nucleotide variant not provided [RCV003672384] Chr10:99836231 [GRCh38]
Chr10:101595988 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.466C>T (p.Gln156Ter) single nucleotide variant not provided [RCV003699911] Chr10:99793683 [GRCh38]
Chr10:101553440 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3259-10G>C single nucleotide variant not provided [RCV003723843] Chr10:99834370 [GRCh38]
Chr10:101594127 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1080dup (p.Tyr361fs) duplication not provided [RCV003700635] Chr10:99800433..99800434 [GRCh38]
Chr10:101560190..101560191 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1668+7A>T single nucleotide variant not provided [RCV003559491] Chr10:99807528 [GRCh38]
Chr10:101567285 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2112C>T (p.Val704=) single nucleotide variant not provided [RCV003672824] Chr10:99817325 [GRCh38]
Chr10:101577082 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1967+18C>G single nucleotide variant not provided [RCV003716932] Chr10:99811620 [GRCh38]
Chr10:101571377 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.162C>G (p.Ser54=) single nucleotide variant not provided [RCV003814583] Chr10:99784736 [GRCh38]
Chr10:101544493 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3903G>A (p.Gln1301=) single nucleotide variant not provided [RCV003671567] Chr10:99844381 [GRCh38]
Chr10:101604138 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2685C>T (p.Pro895=) single nucleotide variant not provided [RCV003813726] Chr10:99830371 [GRCh38]
Chr10:101590128 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3009G>A (p.Trp1003Ter) single nucleotide variant not provided [RCV003672455] Chr10:99831736 [GRCh38]
Chr10:101591493 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3103+17T>C single nucleotide variant not provided [RCV003813780] Chr10:99831847 [GRCh38]
Chr10:101591604 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-9C>A single nucleotide variant not provided [RCV003723991] Chr10:99846952 [GRCh38]
Chr10:101606709 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1363C>T (p.Leu455=) single nucleotide variant not provided [RCV003700872] Chr10:99804172 [GRCh38]
Chr10:101563929 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1968-1G>A single nucleotide variant not provided [RCV003698121] Chr10:99813017 [GRCh38]
Chr10:101572774 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4146+20C>A single nucleotide variant not provided [RCV003836549] Chr10:99845802 [GRCh38]
Chr10:101605559 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2883+15del deletion not provided [RCV003666127] Chr10:99830866 [GRCh38]
Chr10:101590623 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1530+14C>T single nucleotide variant not provided [RCV003822800] Chr10:99805461 [GRCh38]
Chr10:101565218 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.966C>T (p.Leu322=) single nucleotide variant not provided [RCV003568706] Chr10:99799305 [GRCh38]
Chr10:101559062 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1530+15G>A single nucleotide variant not provided [RCV003711972] Chr10:99805462 [GRCh38]
Chr10:101565219 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+11_2747+14del deletion not provided [RCV003822460] Chr10:99830444..99830447 [GRCh38]
Chr10:101590201..101590204 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.801G>A (p.Gln267=) single nucleotide variant not provided [RCV003675366] Chr10:99797265 [GRCh38]
Chr10:101557022 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.69G>C (p.Leu23=) single nucleotide variant not provided [RCV003865932] Chr10:99784643 [GRCh38]
Chr10:101544400 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.66C>T (p.Asp22=) single nucleotide variant not provided [RCV003674656] Chr10:99784640 [GRCh38]
Chr10:101544397 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1218C>G (p.Thr406=) single nucleotide variant not provided [RCV003846356] Chr10:99804027 [GRCh38]
Chr10:101563784 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.648C>G (p.Gly216=) single nucleotide variant not provided [RCV003841038] Chr10:99797112 [GRCh38]
Chr10:101556869 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3366C>G (p.Val1122=) single nucleotide variant not provided [RCV003563235] Chr10:99834487 [GRCh38]
Chr10:101594244 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+19G>C single nucleotide variant not provided [RCV003862105] Chr10:99832150 [GRCh38]
Chr10:101591907 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4146+8C>T single nucleotide variant not provided [RCV003679422] Chr10:99845790 [GRCh38]
Chr10:101605547 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1326G>A (p.Trp442Ter) single nucleotide variant not provided [RCV003734620] Chr10:99804135 [GRCh38]
Chr10:101563892 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1939G>T (p.Glu647Ter) single nucleotide variant not provided [RCV003734621] Chr10:99811574 [GRCh38]
Chr10:101571331 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3614+19A>T single nucleotide variant not provided [RCV003842049] Chr10:99836309 [GRCh38]
Chr10:101596066 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2808G>A (p.Val936=) single nucleotide variant not provided [RCV003563317] Chr10:99830776 [GRCh38]
Chr10:101590533 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3615-13T>C single nucleotide variant not provided [RCV003707609] Chr10:99841954 [GRCh38]
Chr10:101601711 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2649T>C (p.Asp883=) single nucleotide variant ABCC2-related disorder [RCV003909116]|not provided [RCV003732780] Chr10:99830335 [GRCh38]
Chr10:101590092 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.909_921del (p.Lys303fs) deletion not provided [RCV003554391] Chr10:99799244..99799256 [GRCh38]
Chr10:101559001..101559013 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3987+1G>C single nucleotide variant not provided [RCV003862217] Chr10:99844466 [GRCh38]
Chr10:101604223 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2337_2338insCC (p.Asp780fs) insertion not provided [RCV003679463] Chr10:99818855..99818856 [GRCh38]
Chr10:101578612..101578613 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2884-14T>C single nucleotide variant not provided [RCV003848582] Chr10:99831597 [GRCh38]
Chr10:101591354 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.459A>G (p.Thr153=) single nucleotide variant not provided [RCV003711284] Chr10:99793676 [GRCh38]
Chr10:101553433 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.786G>A (p.Glu262=) single nucleotide variant not provided [RCV003865009] Chr10:99797250 [GRCh38]
Chr10:101557007 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4313+16del deletion not provided [RCV003865020] Chr10:99847142 [GRCh38]
Chr10:101606899 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.402A>G (p.Leu134=) single nucleotide variant not provided [RCV003822970] Chr10:99793619 [GRCh38]
Chr10:101553376 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1669-7T>C single nucleotide variant not provided [RCV003857458] Chr10:99808076 [GRCh38]
Chr10:101567833 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2568T>A (p.Ala856=) single nucleotide variant not provided [RCV003670572] Chr10:99819217 [GRCh38]
Chr10:101578974 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.519A>G (p.Gly173=) single nucleotide variant not provided [RCV003674534] Chr10:99793942 [GRCh38]
Chr10:101553699 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.334-20T>A single nucleotide variant not provided [RCV003864042] Chr10:99793531 [GRCh38]
Chr10:101553288 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1107T>C (p.Thr369=) single nucleotide variant not provided [RCV003845297] Chr10:99800461 [GRCh38]
Chr10:101560218 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4605T>C (p.Ala1535=) single nucleotide variant not provided [RCV003567557] Chr10:99851598 [GRCh38]
Chr10:101611355 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1531-5A>T single nucleotide variant not provided [RCV003555401] Chr10:99807379 [GRCh38]
Chr10:101567136 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.867+17T>C single nucleotide variant not provided [RCV003841095] Chr10:99797348 [GRCh38]
Chr10:101557105 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3423T>C (p.Tyr1141=) single nucleotide variant not provided [RCV003824366] Chr10:99836099 [GRCh38]
Chr10:101595856 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2883+8C>T single nucleotide variant not provided [RCV003710563] Chr10:99830859 [GRCh38]
Chr10:101590616 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.255T>A (p.Leu85=) single nucleotide variant not provided [RCV003712245] Chr10:99792281 [GRCh38]
Chr10:101552038 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.918A>C (p.Pro306=) single nucleotide variant not provided [RCV003552682] Chr10:99799257 [GRCh38]
Chr10:101559014 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1531-2A>G single nucleotide variant ABCC2-related disorder [RCV003966639]|not provided [RCV003729105] Chr10:99807382 [GRCh38]
Chr10:101567139 [GRCh37]
Chr10:10q24.2		 likely pathogenic|likely benign
NM_000392.5(ABCC2):c.3258+8T>C single nucleotide variant not provided [RCV003550348] Chr10:99832139 [GRCh38]
Chr10:101591896 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2274T>C (p.Gly758=) single nucleotide variant not provided [RCV003706453] Chr10:99818792 [GRCh38]
Chr10:101578549 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2883+7A>G single nucleotide variant not provided [RCV003859796] Chr10:99830858 [GRCh38]
Chr10:101590615 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1818C>T (p.Ala606=) single nucleotide variant not provided [RCV003681366] Chr10:99810136 [GRCh38]
Chr10:101569893 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4299T>C (p.Ala1433=) single nucleotide variant not provided [RCV003679936] Chr10:99847113 [GRCh38]
Chr10:101606870 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.468+13del deletion not provided [RCV003553114] Chr10:99793692 [GRCh38]
Chr10:101553449 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3156A>T (p.Ala1052=) single nucleotide variant not provided [RCV003683089] Chr10:99832029 [GRCh38]
Chr10:101591786 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1353T>G (p.Ser451=) single nucleotide variant not provided [RCV003707015] Chr10:99804162 [GRCh38]
Chr10:101563919 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1465-7C>G single nucleotide variant not provided [RCV003708933] Chr10:99805375 [GRCh38]
Chr10:101565132 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1901-5A>C single nucleotide variant not provided [RCV003844348] Chr10:99811531 [GRCh38]
Chr10:101571288 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.777A>G (p.Arg259=) single nucleotide variant not provided [RCV003706519] Chr10:99797241 [GRCh38]
Chr10:101556998 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.462C>A (p.Leu154=) single nucleotide variant not provided [RCV003863303] Chr10:99793679 [GRCh38]
Chr10:101553436 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1014G>T (p.Val338=) single nucleotide variant not provided [RCV003820573] Chr10:99799353 [GRCh38]
Chr10:101559110 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+9G>A single nucleotide variant not provided [RCV003860642] Chr10:99817493 [GRCh38]
Chr10:101577250 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.999C>T (p.Asp333=) single nucleotide variant not provided [RCV003820601] Chr10:99799338 [GRCh38]
Chr10:101559095 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3104-6C>T single nucleotide variant not provided [RCV003707516] Chr10:99831971 [GRCh38]
Chr10:101591728 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.339G>C (p.Leu113=) single nucleotide variant not provided [RCV003553730] Chr10:99793556 [GRCh38]
Chr10:101553313 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1815+7C>T single nucleotide variant not provided [RCV003824243] Chr10:99808236 [GRCh38]
Chr10:101567993 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+11T>G single nucleotide variant not provided [RCV003564368] Chr10:99830444 [GRCh38]
Chr10:101590201 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3060G>A (p.Arg1020=) single nucleotide variant not provided [RCV003729020] Chr10:99831787 [GRCh38]
Chr10:101591544 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.957C>T (p.Tyr319=) single nucleotide variant not provided [RCV003821375] Chr10:99799296 [GRCh38]
Chr10:101559053 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1464+17C>G single nucleotide variant not provided [RCV003568429] Chr10:99804290 [GRCh38]
Chr10:101564047 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1032-2A>G single nucleotide variant not provided [RCV003853025] Chr10:99800384 [GRCh38]
Chr10:101560141 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3684T>C (p.Ile1228=) single nucleotide variant not provided [RCV003705986] Chr10:99842036 [GRCh38]
Chr10:101601793 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4485G>A (p.Leu1495=) single nucleotide variant not provided [RCV003705023] Chr10:99850773 [GRCh38]
Chr10:101610530 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.36T>C (p.Asn12=) single nucleotide variant not provided [RCV003862068] Chr10:99784610 [GRCh38]
Chr10:101544367 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2621-12G>C single nucleotide variant not provided [RCV003861247] Chr10:99830295 [GRCh38]
Chr10:101590052 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1968-16C>T single nucleotide variant not provided [RCV003862239] Chr10:99813002 [GRCh38]
Chr10:101572759 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4188C>T (p.Asp1396=) single nucleotide variant not provided [RCV003568634] Chr10:99847002 [GRCh38]
Chr10:101606759 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.934A>T (p.Lys312Ter) single nucleotide variant not provided [RCV003551460] Chr10:99799273 [GRCh38]
Chr10:101559030 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2272-15T>C single nucleotide variant not provided [RCV003865211] Chr10:99818775 [GRCh38]
Chr10:101578532 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4044C>T (p.Phe1348=) single nucleotide variant not provided [RCV003685781] Chr10:99845680 [GRCh38]
Chr10:101605437 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.900G>T (p.Gly300=) single nucleotide variant ABCC2-related disorder [RCV003984417]|not provided [RCV003722018] Chr10:99799239 [GRCh38]
Chr10:101558996 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3558T>C (p.Asn1186=) single nucleotide variant not provided [RCV003551580] Chr10:99836234 [GRCh38]
Chr10:101595991 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.921dup (p.Ser308fs) duplication not provided [RCV003557561] Chr10:99799256..99799257 [GRCh38]
Chr10:101559013..101559014 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3415-16dup duplication not provided [RCV003719421] Chr10:99836072..99836073 [GRCh38]
Chr10:101595829..101595830 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2550C>G (p.Ala850=) single nucleotide variant ABCC2-related disorder [RCV003893540]|not provided [RCV003867210] Chr10:99819199 [GRCh38]
Chr10:101578956 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2748-10C>T single nucleotide variant not provided [RCV003721137] Chr10:99830706 [GRCh38]
Chr10:101590463 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3615-10_3615-6del deletion not provided [RCV003863298] Chr10:99841957..99841961 [GRCh38]
Chr10:101601714..101601718 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3451C>T (p.Leu1151=) single nucleotide variant not provided [RCV003869543] Chr10:99836127 [GRCh38]
Chr10:101595884 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+2T>C single nucleotide variant not provided [RCV003719464] Chr10:99819271 [GRCh38]
Chr10:101579028 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2272-18A>T single nucleotide variant not provided [RCV003706418] Chr10:99818772 [GRCh38]
Chr10:101578529 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.576+8T>G single nucleotide variant not provided [RCV003867017] Chr10:99794007 [GRCh38]
Chr10:101553764 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.489C>G (p.Ala163=) single nucleotide variant not provided [RCV003683786] Chr10:99793912 [GRCh38]
Chr10:101553669 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2556del (p.Gly853fs) deletion not provided [RCV003727118] Chr10:99819200 [GRCh38]
Chr10:101578957 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.225T>C (p.Leu75=) single nucleotide variant ABCC2-related disorder [RCV003893369]|not provided [RCV003737699] Chr10:99792251 [GRCh38]
Chr10:101552008 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.787A>T (p.Lys263Ter) single nucleotide variant not provided [RCV003721112] Chr10:99797251 [GRCh38]
Chr10:101557008 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1375T>C (p.Leu459=) single nucleotide variant not provided [RCV003710260] Chr10:99804184 [GRCh38]
Chr10:101563941 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1770C>G (p.Arg590=) single nucleotide variant not provided [RCV003737223] Chr10:99808184 [GRCh38]
Chr10:101567941 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1110G>T (p.Ala370=) single nucleotide variant not provided [RCV003552312] Chr10:99800464 [GRCh38]
Chr10:101560221 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.298C>T (p.Arg100Ter) single nucleotide variant not provided [RCV003557522] Chr10:99792324 [GRCh38]
Chr10:101552081 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2026G>C (p.Gly676Arg) single nucleotide variant not provided [RCV003557524] Chr10:99813076 [GRCh38]
Chr10:101572833 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2360_2366del (p.Pro787fs) deletion not provided [RCV003557525] Chr10:99818877..99818883 [GRCh38]
Chr10:101578634..101578640 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3258+2dup duplication not provided [RCV003557526] Chr10:99832132..99832133 [GRCh38]
Chr10:101591889..101591890 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3825C>G (p.Tyr1275Ter) single nucleotide variant ABCC2-related disorder [RCV004747320]|Dubin-Johnson syndrome [RCV004796825]|not provided [RCV003557527] Chr10:99843882 [GRCh38]
Chr10:101603639 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3928C>T (p.Arg1310Ter) single nucleotide variant ABCC2-related disorder [RCV003909038]|Dubin-Johnson syndrome [RCV004796826]|not provided [RCV003557528] Chr10:99844406 [GRCh38]
Chr10:101604163 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4327C>T (p.Gln1443Ter) single nucleotide variant Dubin-Johnson syndrome [RCV004801369]|not provided [RCV003557529] Chr10:99850615 [GRCh38]
Chr10:101610372 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1435A>G (p.Ile479Val) single nucleotide variant not provided [RCV003684192] Chr10:99804244 [GRCh38]
Chr10:101564001 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1967+10del deletion not provided [RCV003721279] Chr10:99811611 [GRCh38]
Chr10:101571368 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2772G>A (p.Leu924=) single nucleotide variant not provided [RCV003722918] Chr10:99830740 [GRCh38]
Chr10:101590497 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1052del (p.Ser351fs) deletion not provided [RCV003821308] Chr10:99800406 [GRCh38]
Chr10:101560163 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3297G>A (p.Leu1099=) single nucleotide variant not provided [RCV003541774] Chr10:99834418 [GRCh38]
Chr10:101594175 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2095-19C>A single nucleotide variant not provided [RCV003819994] Chr10:99817289 [GRCh38]
Chr10:101577046 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3988-4G>A single nucleotide variant not provided [RCV003869886] Chr10:99845620 [GRCh38]
Chr10:101605377 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2853A>G (p.Leu951=) single nucleotide variant not provided [RCV003707087] Chr10:99830821 [GRCh38]
Chr10:101590578 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1527C>A (p.Ile509=) single nucleotide variant not provided [RCV003679569] Chr10:99805444 [GRCh38]
Chr10:101565201 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1137G>A (p.Gln379=) single nucleotide variant not provided [RCV003552877] Chr10:99800491 [GRCh38]
Chr10:101560248 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-15T>C single nucleotide variant not provided [RCV003848218] Chr10:99846946 [GRCh38]
Chr10:101606703 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1815+14C>T single nucleotide variant not provided [RCV003710866] Chr10:99808243 [GRCh38]
Chr10:101568000 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3615-17G>A single nucleotide variant not provided [RCV003859020] Chr10:99841950 [GRCh38]
Chr10:101601707 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1669-19A>G single nucleotide variant not provided [RCV003821873] Chr10:99808064 [GRCh38]
Chr10:101567821 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1531-12dup duplication not provided [RCV003846261] Chr10:99807364..99807365 [GRCh38]
Chr10:101567121..101567122 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.3615-4A>G single nucleotide variant ABCC2-related disorder [RCV003966722]|not provided [RCV003859333] Chr10:99841963 [GRCh38]
Chr10:101601720 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4332G>T (p.Leu1444=) single nucleotide variant not provided [RCV003860738] Chr10:99850620 [GRCh38]
Chr10:101610377 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+12G>C single nucleotide variant not provided [RCV003711310] Chr10:99819281 [GRCh38]
Chr10:101579038 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4146+15T>A single nucleotide variant not provided [RCV003685581] Chr10:99845797 [GRCh38]
Chr10:101605554 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2333del (p.Asn778fs) deletion not provided [RCV003868414] Chr10:99818848 [GRCh38]
Chr10:101578605 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2748-13T>G single nucleotide variant not provided [RCV003872368] Chr10:99830703 [GRCh38]
Chr10:101590460 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.407G>A (p.Trp136Ter) single nucleotide variant not provided [RCV003718872] Chr10:99793624 [GRCh38]
Chr10:101553381 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.469-16G>T single nucleotide variant not provided [RCV003869075] Chr10:99793876 [GRCh38]
Chr10:101553633 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.569C>A (p.Ser190Ter) single nucleotide variant not provided [RCV003685605] Chr10:99793992 [GRCh38]
Chr10:101553749 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1668+15G>A single nucleotide variant not provided [RCV003820444] Chr10:99807536 [GRCh38]
Chr10:101567293 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1338A>G (p.Leu446=) single nucleotide variant not provided [RCV003869226] Chr10:99804147 [GRCh38]
Chr10:101563904 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
NM_000392.5(ABCC2):c.2882A>G (p.Lys961Arg) single nucleotide variant not provided [RCV003734622] Chr10:99830850 [GRCh38]
Chr10:101590607 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3846A>G (p.Ala1282=) single nucleotide variant not provided [RCV003720052] Chr10:99844324 [GRCh38]
Chr10:101604081 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2439+17C>T single nucleotide variant not provided [RCV003563095] Chr10:99818974 [GRCh38]
Chr10:101578731 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.469-1G>T single nucleotide variant not provided [RCV003683840] Chr10:99793891 [GRCh38]
Chr10:101553648 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4147-2A>G single nucleotide variant not provided [RCV003870940] Chr10:99846959 [GRCh38]
Chr10:101606716 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2326_2329del (p.Tyr776fs) microsatellite not provided [RCV003707592] Chr10:99818839..99818842 [GRCh38]
Chr10:101578596..101578599 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4313+20_4313+28del deletion not provided [RCV003568006] Chr10:99847142..99847150 [GRCh38]
Chr10:101606899..101606907 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3541C>T (p.Arg1181Ter) single nucleotide variant Dubin-Johnson syndrome [RCV004796817]|not provided [RCV003553460] Chr10:99836217 [GRCh38]
Chr10:101595974 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.3063C>T (p.Asp1021=) single nucleotide variant not provided [RCV003555392] Chr10:99831790 [GRCh38]
Chr10:101591547 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.828G>A (p.Leu276=) single nucleotide variant not provided [RCV003682230] Chr10:99797292 [GRCh38]
Chr10:101557049 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.780G>A (p.Arg260=) single nucleotide variant ABCC2-related disorder [RCV004747379]|not provided [RCV003822360] Chr10:99797244 [GRCh38]
Chr10:101557001 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2095-13C>A single nucleotide variant not provided [RCV003684026] Chr10:99817295 [GRCh38]
Chr10:101577052 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4566A>G (p.Leu1522=) single nucleotide variant ABCC2-related disorder [RCV003901351]|not provided [RCV003737236] Chr10:99851559 [GRCh38]
Chr10:101611316 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.333+9T>C single nucleotide variant not provided [RCV003737259] Chr10:99792368 [GRCh38]
Chr10:101552125 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4176G>A (p.Arg1392=) single nucleotide variant not provided [RCV003721447] Chr10:99846990 [GRCh38]
Chr10:101606747 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3104-7T>C single nucleotide variant not provided [RCV003685742] Chr10:99831970 [GRCh38]
Chr10:101591727 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2520A>G (p.Val840=) single nucleotide variant not provided [RCV003722670] Chr10:99819169 [GRCh38]
Chr10:101578926 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1815+9G>T single nucleotide variant not provided [RCV003564711] Chr10:99808238 [GRCh38]
Chr10:101567995 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4335G>C (p.Leu1445=) single nucleotide variant not provided [RCV003869868] Chr10:99850623 [GRCh38]
Chr10:101610380 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+8A>C single nucleotide variant not provided [RCV003731247] Chr10:99830441 [GRCh38]
Chr10:101590198 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2289G>A (p.Gly763=) single nucleotide variant not provided [RCV003670682] Chr10:99818807 [GRCh38]
Chr10:101578564 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4512A>G (p.Val1504=) single nucleotide variant not provided [RCV003868546] Chr10:99851505 [GRCh38]
Chr10:101611262 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2205G>A (p.Glu735=) single nucleotide variant not provided [RCV003723075] Chr10:99817418 [GRCh38]
Chr10:101577175 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1900+20G>T single nucleotide variant not provided [RCV003705246] Chr10:99810238 [GRCh38]
Chr10:101569995 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2992del (p.Leu998fs) deletion not provided [RCV003552083] Chr10:99831718 [GRCh38]
Chr10:101591475 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1669-18dup duplication not provided [RCV003568558] Chr10:99808064..99808065 [GRCh38]
Chr10:101567821..101567822 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4509-14C>T single nucleotide variant not provided [RCV003869740] Chr10:99851488 [GRCh38]
Chr10:101611245 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1901-1_1903del deletion not provided [RCV003706478] Chr10:99811532..99811535 [GRCh38]
Chr10:101571289..101571292 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2658G>T (p.Gly886=) single nucleotide variant not provided [RCV003863796] Chr10:99830344 [GRCh38]
Chr10:101590101 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2439+10C>T single nucleotide variant not provided [RCV003684346] Chr10:99818967 [GRCh38]
Chr10:101578724 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_000392.5(ABCC2):c.4545C>T (p.Cys1515=) single nucleotide variant ABCC2-related disorder [RCV003981161]|not provided [RCV003847774] Chr10:99851538 [GRCh38]
Chr10:101611295 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.468+12A>G single nucleotide variant not provided [RCV003552651] Chr10:99793697 [GRCh38]
Chr10:101553454 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1967+9C>T single nucleotide variant ABCC2-related disorder [RCV003919354]|not provided [RCV003734089] Chr10:99811611 [GRCh38]
Chr10:101571368 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3180G>A (p.Leu1060=) single nucleotide variant ABCC2-related disorder [RCV004747362]|not provided [RCV003734108] Chr10:99832053 [GRCh38]
Chr10:101591810 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4407A>G (p.Leu1469=) single nucleotide variant not provided [RCV003554796] Chr10:99850695 [GRCh38]
Chr10:101610452 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2646C>T (p.Asp882=) single nucleotide variant not provided [RCV003846098] Chr10:99830332 [GRCh38]
Chr10:101590089 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.486A>G (p.Leu162=) single nucleotide variant not provided [RCV003683554] Chr10:99793909 [GRCh38]
Chr10:101553666 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3465C>A (p.Thr1155=) single nucleotide variant ABCC2-related disorder [RCV003981114]|not provided [RCV003737809] Chr10:99836141 [GRCh38]
Chr10:101595898 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1875T>C (p.Ser625=) single nucleotide variant ABCC2-related disorder [RCV003949058]|not provided [RCV003846225] Chr10:99810193 [GRCh38]
Chr10:101569950 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.867+11C>T single nucleotide variant not provided [RCV003557014] Chr10:99797342 [GRCh38]
Chr10:101557099 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4120C>T (p.Arg1374Ter) single nucleotide variant Dubin-Johnson syndrome [RCV004796849]|not provided [RCV003821784] Chr10:99845756 [GRCh38]
Chr10:101605513 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.546A>T (p.Ser182=) single nucleotide variant not provided [RCV003565765] Chr10:99793969 [GRCh38]
Chr10:101553726 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4146+16T>C single nucleotide variant not provided [RCV003823691] Chr10:99845798 [GRCh38]
Chr10:101605555 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2884-18G>A single nucleotide variant not provided [RCV003861995] Chr10:99831593 [GRCh38]
Chr10:101591350 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.321C>T (p.Tyr107=) single nucleotide variant not provided [RCV003823217] Chr10:99792347 [GRCh38]
Chr10:101552104 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2293C>T (p.Gln765Ter) single nucleotide variant not provided [RCV003675347] Chr10:99818811 [GRCh38]
Chr10:101578568 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.333+1G>A single nucleotide variant Dubin-Johnson syndrome [RCV003842937]|not provided [RCV003842938] Chr10:99792360 [GRCh38]
Chr10:101552117 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3415-10T>C single nucleotide variant not provided [RCV003680691] Chr10:99836081 [GRCh38]
Chr10:101595838 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3988-9T>C single nucleotide variant not provided [RCV003567132] Chr10:99845615 [GRCh38]
Chr10:101605372 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3753C>A (p.Thr1251=) single nucleotide variant not provided [RCV003568738] Chr10:99843810 [GRCh38]
Chr10:101603567 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.537G>C (p.Leu179=) single nucleotide variant not provided [RCV003555234] Chr10:99793960 [GRCh38]
Chr10:101553717 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+11T>C single nucleotide variant not provided [RCV003848599] Chr10:99831841 [GRCh38]
Chr10:101591598 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+13T>A single nucleotide variant not provided [RCV003564369] Chr10:99830446 [GRCh38]
Chr10:101590203 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1290G>A (p.Lys430=) single nucleotide variant not provided [RCV003865503] Chr10:99804099 [GRCh38]
Chr10:101563856 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3000C>T (p.Leu1000=) single nucleotide variant not provided [RCV003862758] Chr10:99831727 [GRCh38]
Chr10:101591484 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.492C>T (p.Tyr164=) single nucleotide variant not provided [RCV003847269] Chr10:99793915 [GRCh38]
Chr10:101553672 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3533del (p.His1178fs) deletion not provided [RCV003567266] Chr10:99836209 [GRCh38]
Chr10:101595966 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2801G>A (p.Arg934Gln) single nucleotide variant not provided [RCV003554337] Chr10:99830769 [GRCh38]
Chr10:101590526 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.67C>T (p.Leu23=) single nucleotide variant not provided [RCV003711303] Chr10:99784641 [GRCh38]
Chr10:101544398 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3375C>T (p.Ile1125=) single nucleotide variant not provided [RCV003848522] Chr10:99834496 [GRCh38]
Chr10:101594253 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1390T>C (p.Leu464=) single nucleotide variant not provided [RCV003556934] Chr10:99804199 [GRCh38]
Chr10:101563956 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.387C>T (p.Ser129=) single nucleotide variant not provided [RCV003862862] Chr10:99793604 [GRCh38]
Chr10:101553361 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4599G>A (p.Lys1533=) single nucleotide variant not provided [RCV003732161] Chr10:99851592 [GRCh38]
Chr10:101611349 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4524C>T (p.Asp1508=) single nucleotide variant not provided [RCV003568591] Chr10:99851517 [GRCh38]
Chr10:101611274 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3104-8A>G single nucleotide variant not provided [RCV003704853] Chr10:99831969 [GRCh38]
Chr10:101591726 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1465-10T>C single nucleotide variant not provided [RCV003857994] Chr10:99805372 [GRCh38]
Chr10:101565129 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2124C>T (p.Ser708=) single nucleotide variant not provided [RCV003858070] Chr10:99817337 [GRCh38]
Chr10:101577094 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+10_2747+11insGAATAGATAGCT insertion not provided [RCV003564367] Chr10:99830443..99830444 [GRCh38]
Chr10:101590200..101590201 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1031+9C>G single nucleotide variant not provided [RCV003682490] Chr10:99799379 [GRCh38]
Chr10:101559136 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3378C>T (p.Ile1126=) single nucleotide variant not provided [RCV003862306] Chr10:99834499 [GRCh38]
Chr10:101594256 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3231A>G (p.Thr1077=) single nucleotide variant not provided [RCV003823662] Chr10:99832104 [GRCh38]
Chr10:101591861 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+9G>C single nucleotide variant not provided [RCV003677020] Chr10:99817493 [GRCh38]
Chr10:101577250 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4467C>A (p.Ile1489=) single nucleotide variant not provided [RCV003551738] Chr10:99850755 [GRCh38]
Chr10:101610512 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3259-10G>A single nucleotide variant not provided [RCV003730606] Chr10:99834370 [GRCh38]
Chr10:101594127 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4170C>T (p.Ser1390=) single nucleotide variant not provided [RCV003840743] Chr10:99846984 [GRCh38]
Chr10:101606741 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.924C>G (p.Ser308=) single nucleotide variant not provided [RCV003729604] Chr10:99799263 [GRCh38]
Chr10:101559020 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2578A>T (p.Lys860Ter) single nucleotide variant not provided [RCV003845059] Chr10:99819227 [GRCh38]
Chr10:101578984 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2094+17A>G single nucleotide variant not provided [RCV003683033] Chr10:99813161 [GRCh38]
Chr10:101572918 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1967+10C>G single nucleotide variant not provided [RCV003550433] Chr10:99811612 [GRCh38]
Chr10:101571369 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3537G>A (p.Gln1179=) single nucleotide variant not provided [RCV003563716] Chr10:99836213 [GRCh38]
Chr10:101595970 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1209+13C>T single nucleotide variant not provided [RCV003842182] Chr10:99800576 [GRCh38]
Chr10:101560333 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2382T>C (p.His794=) single nucleotide variant not provided [RCV003858331] Chr10:99818900 [GRCh38]
Chr10:101578657 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-20C>T single nucleotide variant not provided [RCV003866252] Chr10:99846941 [GRCh38]
Chr10:101606698 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.969G>C (p.Leu323=) single nucleotide variant not provided [RCV003551476] Chr10:99799308 [GRCh38]
Chr10:101559065 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.669C>T (p.Leu223=) single nucleotide variant not provided [RCV003822177] Chr10:99797133 [GRCh38]
Chr10:101556890 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.469-9del deletion not provided [RCV003846704] Chr10:99793877 [GRCh38]
Chr10:101553634 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.469-14T>C single nucleotide variant not provided [RCV003846705] Chr10:99793878 [GRCh38]
Chr10:101553635 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3614+16G>C single nucleotide variant not provided [RCV003707708] Chr10:99836306 [GRCh38]
Chr10:101596063 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2094+12T>C single nucleotide variant not provided [RCV003676095] Chr10:99813156 [GRCh38]
Chr10:101572913 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3732T>C (p.Asn1244=) single nucleotide variant not provided [RCV003676117] Chr10:99842084 [GRCh38]
Chr10:101601841 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3267C>T (p.Ser1089=) single nucleotide variant not provided [RCV003705535] Chr10:99834388 [GRCh38]
Chr10:101594145 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1644C>T (p.Phe548=) single nucleotide variant not provided [RCV003866303] Chr10:99807497 [GRCh38]
Chr10:101567254 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2328C>T (p.Tyr776=) single nucleotide variant not provided [RCV003735981] Chr10:99818846 [GRCh38]
Chr10:101578603 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-9C>T single nucleotide variant not provided [RCV003844681] Chr10:99846952 [GRCh38]
Chr10:101606709 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4284C>T (p.His1428=) single nucleotide variant not provided [RCV003704212] Chr10:99847098 [GRCh38]
Chr10:101606855 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2589A>G (p.Leu863=) single nucleotide variant not provided [RCV003866331] Chr10:99819238 [GRCh38]
Chr10:101578995 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2886G>A (p.Val962=) single nucleotide variant not provided [RCV003678548] Chr10:99831613 [GRCh38]
Chr10:101591370 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2706C>A (p.Thr902=) single nucleotide variant not provided [RCV003678668] Chr10:99830392 [GRCh38]
Chr10:101590149 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.207+15A>C single nucleotide variant not provided [RCV003566378] Chr10:99784796 [GRCh38]
Chr10:101544553 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.27T>A (p.Thr9=) single nucleotide variant not provided [RCV003853941] Chr10:99782871 [GRCh38]
Chr10:101542628 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2325C>G (p.Thr775=) single nucleotide variant not provided [RCV003709674] Chr10:99818843 [GRCh38]
Chr10:101578600 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.890dup (p.Lys298fs) duplication Dubin-Johnson syndrome [RCV004759327]|not provided [RCV003845140] Chr10:99799221..99799222 [GRCh38]
Chr10:101558978..101558979 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.198T>C (p.Leu66=) single nucleotide variant not provided [RCV003541776] Chr10:99784772 [GRCh38]
Chr10:101544529 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4438C>T (p.Gln1480Ter) single nucleotide variant not provided [RCV003842532] Chr10:99850726 [GRCh38]
Chr10:101610483 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4002C>T (p.Gly1334=) single nucleotide variant not provided [RCV003705446] Chr10:99845638 [GRCh38]
Chr10:101605395 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2019C>T (p.Val673=) single nucleotide variant not provided [RCV003729972] Chr10:99813069 [GRCh38]
Chr10:101572826 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.334-2A>G single nucleotide variant not provided [RCV003706702] Chr10:99793549 [GRCh38]
Chr10:101553306 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.207+17T>A single nucleotide variant not provided [RCV003866448] Chr10:99784798 [GRCh38]
Chr10:101544555 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4413A>C (p.Thr1471=) single nucleotide variant not provided [RCV003556645] Chr10:99850701 [GRCh38]
Chr10:101610458 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1624C>T (p.Leu542=) single nucleotide variant not provided [RCV003845900] Chr10:99807477 [GRCh38]
Chr10:101567234 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3741+18G>A single nucleotide variant not provided [RCV003708030] Chr10:99842111 [GRCh38]
Chr10:101601868 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3104-16C>T single nucleotide variant not provided [RCV003562834] Chr10:99831961 [GRCh38]
Chr10:101591718 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1221A>G (p.Leu407=) single nucleotide variant not provided [RCV003704339] Chr10:99804030 [GRCh38]
Chr10:101563787 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1210-14A>G single nucleotide variant not provided [RCV003705573] Chr10:99804005 [GRCh38]
Chr10:101563762 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1209+17A>C single nucleotide variant not provided [RCV003857724] Chr10:99800580 [GRCh38]
Chr10:101560337 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2747+15C>A single nucleotide variant not provided [RCV003564370] Chr10:99830448 [GRCh38]
Chr10:101590205 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2620+13G>T single nucleotide variant not provided [RCV003564426] Chr10:99819282 [GRCh38]
Chr10:101579039 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3258+2T>G single nucleotide variant not provided [RCV003679637] Chr10:99832133 [GRCh38]
Chr10:101591890 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1816-18C>G single nucleotide variant not provided [RCV003845302] Chr10:99810116 [GRCh38]
Chr10:101569873 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3G>A (p.Met1Ile) single nucleotide variant ABCC2-related disorder [RCV003894756] Chr10:99782847 [GRCh38]
Chr10:101542604 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1891del (p.Cys631fs) deletion Inborn genetic diseases [RCV004417745] Chr10:99810209 [GRCh38]
Chr10:101569966 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2579A>G (p.Lys860Arg) single nucleotide variant Inborn genetic diseases [RCV004417794] Chr10:99819228 [GRCh38]
Chr10:101578985 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3148G>A (p.Val1050Ile) single nucleotide variant Inborn genetic diseases [RCV004417839]|not provided [RCV005104556] Chr10:99832021 [GRCh38]
Chr10:101591778 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3599G>T (p.Trp1200Leu) single nucleotide variant Inborn genetic diseases [RCV004417851] Chr10:99836275 [GRCh38]
Chr10:101596032 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3867G>T (p.Arg1289Ser) single nucleotide variant Inborn genetic diseases [RCV004419928] Chr10:99844345 [GRCh38]
Chr10:101604102 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4207G>T (p.Asp1403Tyr) single nucleotide variant ABCC2-related disorder [RCV004723580]|Inborn genetic diseases [RCV004419946] Chr10:99847021 [GRCh38]
Chr10:101606778 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4474G>A (p.Ala1492Thr) single nucleotide variant Inborn genetic diseases [RCV004419953] Chr10:99850762 [GRCh38]
Chr10:101610519 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1925C>G (p.Ala642Gly) single nucleotide variant Inborn genetic diseases [RCV004417746] Chr10:99811560 [GRCh38]
Chr10:101571317 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2914C>A (p.Gln972Lys) single nucleotide variant Inborn genetic diseases [RCV004417813] Chr10:99831641 [GRCh38]
Chr10:101591398 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4496T>G (p.Met1499Arg) single nucleotide variant Inborn genetic diseases [RCV004419958] Chr10:99850784 [GRCh38]
Chr10:101610541 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.357C>T (p.Tyr119=) single nucleotide variant ABCC2-related disorder [RCV003898963] Chr10:99793574 [GRCh38]
Chr10:101553331 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.524A>C (p.Gln175Pro) single nucleotide variant not provided [RCV004546328] Chr10:99793947 [GRCh38]
Chr10:101553704 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3893G>A (p.Gly1298Asp) single nucleotide variant ABCC2-related disorder [RCV003899515] Chr10:99844371 [GRCh38]
Chr10:101604128 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3520C>T (p.Arg1174Cys) single nucleotide variant Dubin-Johnson syndrome [RCV003989427] Chr10:99836196 [GRCh38]
Chr10:101595953 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.109T>G (p.Leu37Val) single nucleotide variant Inborn genetic diseases [RCV004417723] Chr10:99784683 [GRCh38]
Chr10:101544440 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1609C>A (p.Leu537Met) single nucleotide variant Inborn genetic diseases [RCV004417737]|not provided [RCV005104555] Chr10:99807462 [GRCh38]
Chr10:101567219 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3023A>C (p.Lys1008Thr) single nucleotide variant Inborn genetic diseases [RCV004417827] Chr10:99831750 [GRCh38]
Chr10:101591507 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.430A>G (p.Thr144Ala) single nucleotide variant Inborn genetic diseases [RCV004419948] Chr10:99793647 [GRCh38]
Chr10:101553404 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2637A>G (p.Glu879=) single nucleotide variant ABCC2-related disorder [RCV003959557] Chr10:99830323 [GRCh38]
Chr10:101590080 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1490A>C (p.Lys497Thr) single nucleotide variant Inborn genetic diseases [RCV004417733] Chr10:99805407 [GRCh38]
Chr10:101565164 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1439T>C (p.Leu480Pro) single nucleotide variant not provided [RCV003885309] Chr10:99804248 [GRCh38]
Chr10:101564005 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3615-2A>T single nucleotide variant ABCC2-related disorder [RCV003982281] Chr10:99841965 [GRCh38]
Chr10:101601722 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.455G>A (p.Arg152Gln) single nucleotide variant ABCC2-related disorder [RCV003979336]|Inborn genetic diseases [RCV004369900] Chr10:99793672 [GRCh38]
Chr10:101553429 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2414del (p.Gly805fs) deletion ABCC2-related disorder [RCV003894002] Chr10:99818930 [GRCh38]
Chr10:101578687 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2625T>C (p.His875=) single nucleotide variant ABCC2-related disorder [RCV003983591]|not provided [RCV005064927] Chr10:99830311 [GRCh38]
Chr10:101590068 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.469-3T>C single nucleotide variant ABCC2-related disorder [RCV003983535] Chr10:99793889 [GRCh38]
Chr10:101553646 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+8T>A single nucleotide variant ABCC2-related disorder [RCV003896282] Chr10:99831838 [GRCh38]
Chr10:101591595 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.633-1G>A single nucleotide variant ABCC2-related disorder [RCV003911524] Chr10:99797096 [GRCh38]
Chr10:101556853 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.342T>G (p.Val114=) single nucleotide variant ABCC2-related disorder [RCV003949872] Chr10:99793559 [GRCh38]
Chr10:101553316 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.338T>C (p.Leu113Pro) single nucleotide variant ABCC2-related disorder [RCV003954940] Chr10:99793555 [GRCh38]
Chr10:101553312 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2791T>C (p.Leu931=) single nucleotide variant ABCC2-related disorder [RCV003969552] Chr10:99830759 [GRCh38]
Chr10:101590516 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4487A>T (p.His1496Leu) single nucleotide variant Inborn genetic diseases [RCV004419956] Chr10:99850775 [GRCh38]
Chr10:101610532 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.88A>T (p.Thr30Ser) single nucleotide variant Inborn genetic diseases [RCV004419980] Chr10:99784662 [GRCh38]
Chr10:101544419 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.937G>A (p.Ala313Thr) single nucleotide variant Inborn genetic diseases [RCV004419987] Chr10:99799276 [GRCh38]
Chr10:101559033 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2918C>A (p.Ala973Glu) single nucleotide variant Inborn genetic diseases [RCV004417817] Chr10:99831645 [GRCh38]
Chr10:101591402 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2289G>T (p.Gly763=) single nucleotide variant Dubin-Johnson syndrome [RCV004577165] Chr10:99818807 [GRCh38]
Chr10:101578564 [GRCh37]
Chr10:10q24.2		 uncertain significance
NC_000010.10:g.(?_101542602)_(101544558_?)del deletion not provided [RCV004581706] Chr10:101542602..101544558 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101563756)_(101568006_?)del deletion not provided [RCV004581707] Chr10:101563756..101568006 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101567121)_(101577261_?)del deletion not provided [RCV004581708] Chr10:101567121..101577261 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101577045)_(101579046_?)dup duplication not provided [RCV004581715] Chr10:101577045..101579046 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NC_000010.10:g.(?_101590044)_(101596067_?)dup duplication not provided [RCV004581717] Chr10:101590044..101596067 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NC_000010.10:g.(?_101593768)_(101596044_?)del deletion not provided [RCV004581718] Chr10:101593768..101596044 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101542602)_(101611388_?)del deletion not provided [RCV004581704] Chr10:101542602..101611388 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101571273)_(101572921_?)del deletion not provided [RCV004581709] Chr10:101571273..101572921 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101594117)_(101606904_?)del deletion not provided [RCV004581710] Chr10:101594117..101606904 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101551971)_(101554245_?)del deletion not provided [RCV004581711] Chr10:101551971..101554245 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101551971)_(101560340_?)del deletion not provided [RCV004581712] Chr10:101551971..101560340 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101556834)_(101560340_?)del deletion not provided [RCV004581713] Chr10:101556834..101560340 [GRCh37]
Chr10:10q24.2		 pathogenic
NC_000010.10:g.(?_101601704)_(101601870_?)dup duplication not provided [RCV004581714] Chr10:101601704..101601870 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.151G>A (p.Val51Met) single nucleotide variant Inborn genetic diseases [RCV004647122] Chr10:99784725 [GRCh38]
Chr10:101544482 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1160A>G (p.Lys387Arg) single nucleotide variant Inborn genetic diseases [RCV004654531] Chr10:99800514 [GRCh38]
Chr10:101560271 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4465_4473delinsGGCCCACAG (p.Ile1489_Ile1491delinsGlyProGln) indel Dubin-Johnson syndrome [RCV004690549]|not provided [RCV005059755] Chr10:99850753..99850761 [GRCh38]
Chr10:101610510..101610518 [GRCh37]
Chr10:10q24.2		 likely pathogenic|uncertain significance
NM_000392.5(ABCC2):c.2153A>G (p.Asn718Ser) single nucleotide variant not specified [RCV004690677] Chr10:99817366 [GRCh38]
Chr10:101577123 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2769T>G (p.His923Gln) single nucleotide variant Inborn genetic diseases [RCV004654926] Chr10:99830737 [GRCh38]
Chr10:101590494 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4019A>G (p.Lys1340Arg) single nucleotide variant Inborn genetic diseases [RCV004654989] Chr10:99845655 [GRCh38]
Chr10:101605412 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.389G>T (p.Trp130Leu) single nucleotide variant Inborn genetic diseases [RCV004641540] Chr10:99793606 [GRCh38]
Chr10:101553363 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4261A>G (p.Ser1421Gly) single nucleotide variant Inborn genetic diseases [RCV004641554] Chr10:99847075 [GRCh38]
Chr10:101606832 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1174G>C (p.Val392Leu) single nucleotide variant Inborn genetic diseases [RCV004647178] Chr10:99800528 [GRCh38]
Chr10:101560285 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4590T>A (p.Phe1530Leu) single nucleotide variant Inborn genetic diseases [RCV004654770] Chr10:99851583 [GRCh38]
Chr10:101611340 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2063T>C (p.Met688Thr) single nucleotide variant Dubin-Johnson syndrome [RCV004797376] Chr10:99813113 [GRCh38]
Chr10:101572870 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.3149T>C (p.Val1050Ala) single nucleotide variant not provided [RCV004793284] Chr10:99832022 [GRCh38]
Chr10:101591779 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1625T>G (p.Leu542Arg) single nucleotide variant ABCC2-related disorder [RCV004746799] Chr10:99807478 [GRCh38]
Chr10:101567235 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.34-8G>C single nucleotide variant ABCC2-related disorder [RCV004746024] Chr10:99784600 [GRCh38]
Chr10:101544357 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4108C>T (p.Leu1370Phe) single nucleotide variant ABCC2-related disorder [RCV004746810]|not provided [RCV005103874] Chr10:99845744 [GRCh38]
Chr10:101605501 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.133C>T (p.Pro45Ser) single nucleotide variant ABCC2-related disorder [RCV004728113]|not provided [RCV004791719] Chr10:99784707 [GRCh38]
Chr10:101544464 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.731C>T (p.Thr244Met) single nucleotide variant ABCC2-related disorder [RCV004746748]|Inborn genetic diseases [RCV004953733] Chr10:99797195 [GRCh38]
Chr10:101556952 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1567G>A (p.Asp523Asn) single nucleotide variant ABCC2-related disorder [RCV004728643]|Inborn genetic diseases [RCV004953713] Chr10:99807420 [GRCh38]
Chr10:101567177 [GRCh37]
Chr10:10q24.2		 likely benign|uncertain significance
NM_000392.5(ABCC2):c.1575A>C (p.Val525=) single nucleotide variant ABCC2-related disorder [RCV004728650] Chr10:99807428 [GRCh38]
Chr10:101567185 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2714G>T (p.Arg905Ile) single nucleotide variant ABCC2-related disorder [RCV004747888] Chr10:99830400 [GRCh38]
Chr10:101590157 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4403A>T (p.Asp1468Val) single nucleotide variant ABCC2-related disorder [RCV004745860] Chr10:99850691 [GRCh38]
Chr10:101610448 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1412T>G (p.Val471Gly) single nucleotide variant ABCC2-related disorder [RCV004746680] Chr10:99804221 [GRCh38]
Chr10:101563978 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2420A>G (p.Asn807Ser) single nucleotide variant ABCC2-related disorder [RCV004745646] Chr10:99818938 [GRCh38]
Chr10:101578695 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3338T>G (p.Leu1113Arg) single nucleotide variant ABCC2-related disorder [RCV004745918] Chr10:99834459 [GRCh38]
Chr10:101594216 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1768C>T (p.Arg590Cys) single nucleotide variant ABCC2-related disorder [RCV004746756] Chr10:99808182 [GRCh38]
Chr10:101567939 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3401A>T (p.Tyr1134Phe) single nucleotide variant ABCC2-related disorder [RCV004747459] Chr10:99834522 [GRCh38]
Chr10:101594279 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1645G>A (p.Val549Ile) single nucleotide variant ABCC2-related disorder [RCV004746956] Chr10:99807498 [GRCh38]
Chr10:101567255 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2854A>G (p.Ile952Val) single nucleotide variant ABCC2-related disorder [RCV004728218] Chr10:99830822 [GRCh38]
Chr10:101590579 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2492T>C (p.Ile831Thr) single nucleotide variant ABCC2-related disorder [RCV004745674] Chr10:99819141 [GRCh38]
Chr10:101578898 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2114C>T (p.Pro705Leu) single nucleotide variant ABCC2-related disorder [RCV004745901] Chr10:99817327 [GRCh38]
Chr10:101577084 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2996G>A (p.Trp999Ter) single nucleotide variant ABCC2-related disorder [RCV004747631] Chr10:99831723 [GRCh38]
Chr10:101591480 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2275A>G (p.Ile759Val) single nucleotide variant Inborn genetic diseases [RCV004956483] Chr10:99818793 [GRCh38]
Chr10:101578550 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.3527T>C (p.Phe1176Ser) single nucleotide variant Inborn genetic diseases [RCV004956574] Chr10:99836203 [GRCh38]
Chr10:101595960 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4285G>A (p.Glu1429Lys) single nucleotide variant Inborn genetic diseases [RCV004956495] Chr10:99847099 [GRCh38]
Chr10:101606856 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2290G>A (p.Gly764Ser) single nucleotide variant Inborn genetic diseases [RCV004952228] Chr10:99818808 [GRCh38]
Chr10:101578565 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.533T>C (p.Ile178Thr) single nucleotide variant Inborn genetic diseases [RCV004956509] Chr10:99793956 [GRCh38]
Chr10:101553713 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2253G>C (p.Leu751Phe) single nucleotide variant Inborn genetic diseases [RCV004952184] Chr10:99817466 [GRCh38]
Chr10:101577223 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.461T>A (p.Leu154His) single nucleotide variant Inborn genetic diseases [RCV004952190] Chr10:99793678 [GRCh38]
Chr10:101553435 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4366A>G (p.Lys1456Glu) single nucleotide variant Inborn genetic diseases [RCV004952196] Chr10:99850654 [GRCh38]
Chr10:101610411 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2746A>G (p.Ser916Gly) single nucleotide variant Inborn genetic diseases [RCV004952204] Chr10:99830432 [GRCh38]
Chr10:101590189 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1000A>G (p.Ile334Val) single nucleotide variant Inborn genetic diseases [RCV004952211] Chr10:99799339 [GRCh38]
Chr10:101559096 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.4085G>C (p.Gly1362Ala) single nucleotide variant Inborn genetic diseases [RCV004952244] Chr10:99845721 [GRCh38]
Chr10:101605478 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2482G>A (p.Val828Met) single nucleotide variant Inborn genetic diseases [RCV004952175] Chr10:99819131 [GRCh38]
Chr10:101578888 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.823G>A (p.Gly275Ser) single nucleotide variant Inborn genetic diseases [RCV004952266] Chr10:99797287 [GRCh38]
Chr10:101557044 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1744T>A (p.Ser582Thr) single nucleotide variant Inborn genetic diseases [RCV004952289] Chr10:99808158 [GRCh38]
Chr10:101567915 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2962A>T (p.Met988Leu) single nucleotide variant Inborn genetic diseases [RCV004952298] Chr10:99831689 [GRCh38]
Chr10:101591446 [GRCh37]
Chr10:10q24.2		 likely benign
GRCh37/hg19 10q23.2-24.31(chr10:88755921-102461203)x1 copy number loss not provided [RCV004819364] Chr10:88755921..102461203 [GRCh37]
Chr10:10q23.2-24.31		 pathogenic
NM_000392.5(ABCC2):c.3015T>C (p.Ser1005=) single nucleotide variant not provided [RCV005124397] Chr10:99831742 [GRCh38]
Chr10:101591499 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4147-11T>A single nucleotide variant not provided [RCV005120470] Chr10:99846950 [GRCh38]
Chr10:101606707 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.666A>G (p.Thr222=) single nucleotide variant not provided [RCV005124373] Chr10:99797130 [GRCh38]
Chr10:101556887 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4526del (p.Asn1509fs) deletion Dubin-Johnson syndrome [RCV005037366] Chr10:99851518 [GRCh38]
Chr10:101611275 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1341G>A (p.Gln447=) single nucleotide variant not provided [RCV005066974] Chr10:99804150 [GRCh38]
Chr10:101563907 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3742-12G>T single nucleotide variant not provided [RCV005122191] Chr10:99843787 [GRCh38]
Chr10:101603544 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.333+10A>G single nucleotide variant not provided [RCV005122821] Chr10:99792369 [GRCh38]
Chr10:101552126 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.33+9T>C single nucleotide variant not provided [RCV005123361] Chr10:99782886 [GRCh38]
Chr10:101542643 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4587C>T (p.Tyr1529=) single nucleotide variant not provided [RCV005136861] Chr10:99851580 [GRCh38]
Chr10:101611337 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+16A>G single nucleotide variant not provided [RCV005120760] Chr10:99817500 [GRCh38]
Chr10:101577257 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.223CTT[1] (p.Leu76del) microsatellite not provided [RCV005064576] Chr10:99792247..99792249 [GRCh38]
Chr10:101552004..101552006 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.41C>A (p.Ser14Ter) single nucleotide variant Dubin-Johnson syndrome [RCV005037295] Chr10:99784615 [GRCh38]
Chr10:101544372 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1647C>A (p.Val549=) single nucleotide variant not provided [RCV005120002] Chr10:99807500 [GRCh38]
Chr10:101567257 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2713_2717del (p.Arg905fs) deletion not provided [RCV005120436] Chr10:99830395..99830399 [GRCh38]
Chr10:101590152..101590156 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1968-2A>C single nucleotide variant not provided [RCV005130534] Chr10:99813016 [GRCh38]
Chr10:101572773 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.2069del (p.Asn690fs) deletion Dubin-Johnson syndrome [RCV005037318] Chr10:99813116 [GRCh38]
Chr10:101572873 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.109T>C (p.Leu37=) single nucleotide variant not provided [RCV005118605] Chr10:99784683 [GRCh38]
Chr10:101544440 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3751dup (p.Thr1251fs) duplication Dubin-Johnson syndrome [RCV005037357] Chr10:99843805..99843806 [GRCh38]
Chr10:101603562..101603563 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.4311G>A (p.Leu1437=) single nucleotide variant not provided [RCV005066566] Chr10:99847125 [GRCh38]
Chr10:101606882 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+7G>A single nucleotide variant not provided [RCV005122425] Chr10:99817491 [GRCh38]
Chr10:101577248 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2440-2A>G single nucleotide variant not provided [RCV005122561] Chr10:99819087 [GRCh38]
Chr10:101578844 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.208-19G>A single nucleotide variant not provided [RCV005123770] Chr10:99792215 [GRCh38]
Chr10:101551972 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+19G>T single nucleotide variant not provided [RCV005120053] Chr10:99817503 [GRCh38]
Chr10:101577260 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1816-19C>G single nucleotide variant not provided [RCV005120197] Chr10:99810115 [GRCh38]
Chr10:101569872 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3158C>G (p.Ser1053Ter) single nucleotide variant not provided [RCV005115239] Chr10:99832031 [GRCh38]
Chr10:101591788 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1464+11del deletion not provided [RCV005105809] Chr10:99804280 [GRCh38]
Chr10:101564037 [GRCh37]
Chr10:10q24.2		 benign
NM_000392.5(ABCC2):c.884_902dup (p.Asp304fs) duplication Dubin-Johnson syndrome [RCV005037306] Chr10:99799222..99799223 [GRCh38]
Chr10:101558979..101558980 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1962C>T (p.Val654=) single nucleotide variant not provided [RCV005175920] Chr10:99811597 [GRCh38]
Chr10:101571354 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.890del (p.Lys297fs) deletion not provided [RCV005173568] Chr10:99799222 [GRCh38]
Chr10:101558979 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.734A>G (p.His245Arg) single nucleotide variant not provided [RCV005072581] Chr10:99797198 [GRCh38]
Chr10:101556955 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.618C>A (p.Tyr206Ter) single nucleotide variant not provided [RCV005155074] Chr10:99794454 [GRCh38]
Chr10:101554211 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2082C>T (p.His694=) single nucleotide variant not provided [RCV005150124] Chr10:99813132 [GRCh38]
Chr10:101572889 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.234A>G (p.Leu78=) single nucleotide variant not provided [RCV005076264] Chr10:99792260 [GRCh38]
Chr10:101552017 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2271+17_2271+18insTT insertion not provided [RCV005165671] Chr10:99817501..99817502 [GRCh38]
Chr10:101577258..101577259 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4473C>T (p.Ile1491=) single nucleotide variant not provided [RCV005157840] Chr10:99850761 [GRCh38]
Chr10:101610518 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1350A>G (p.Leu450=) single nucleotide variant not provided [RCV005173070] Chr10:99804159 [GRCh38]
Chr10:101563916 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2673G>A (p.Val891=) single nucleotide variant not provided [RCV005081794] Chr10:99830359 [GRCh38]
Chr10:101590116 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3103+10A>G single nucleotide variant not provided [RCV005145493] Chr10:99831840 [GRCh38]
Chr10:101591597 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1939G>C (p.Glu647Gln) single nucleotide variant not provided [RCV005155006] Chr10:99811574 [GRCh38]
Chr10:101571331 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.2439+5G>A single nucleotide variant Dubin-Johnson syndrome [RCV005215802] Chr10:99818962 [GRCh38]
Chr10:101578719 [GRCh37]
Chr10:10q24.2		 likely pathogenic
NM_000392.5(ABCC2):c.1617del (p.Phe539fs) deletion not provided [RCV005163162] Chr10:99807468 [GRCh38]
Chr10:101567225 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.1372G>T (p.Glu458Ter) single nucleotide variant not provided [RCV005149011] Chr10:99804181 [GRCh38]
Chr10:101563938 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.2736_2737del (p.Thr912_Leu913insTer) microsatellite not provided [RCV005179241] Chr10:99830420..99830421 [GRCh38]
Chr10:101590177..101590178 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.4532dup (p.Ile1512fs) duplication not provided [RCV005167262] Chr10:99851523..99851524 [GRCh38]
Chr10:101611280..101611281 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.469-16G>C single nucleotide variant not provided [RCV005180007] Chr10:99793876 [GRCh38]
Chr10:101553633 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.3996G>A (p.Val1332=) single nucleotide variant not provided [RCV005182623] Chr10:99845632 [GRCh38]
Chr10:101605389 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4413del (p.Asp1472fs) deletion not provided [RCV005147648] Chr10:99850701 [GRCh38]
Chr10:101610458 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.670G>A (p.Glu224Lys) single nucleotide variant not provided [RCV005073326] Chr10:99797134 [GRCh38]
Chr10:101556891 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1968-11C>T single nucleotide variant not provided [RCV005154232] Chr10:99813007 [GRCh38]
Chr10:101572764 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2246G>T (p.Gly749Val) single nucleotide variant not provided [RCV005147680] Chr10:99817459 [GRCh38]
Chr10:101577216 [GRCh37]
Chr10:10q24.2		 uncertain significance
NM_000392.5(ABCC2):c.1465-15C>T single nucleotide variant not provided [RCV005170277] Chr10:99805367 [GRCh38]
Chr10:101565124 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.4372C>T (p.Leu1458=) single nucleotide variant not provided [RCV005194000] Chr10:99850660 [GRCh38]
Chr10:101610417 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2713del (p.Arg905fs) deletion not provided [RCV005074576] Chr10:99830398 [GRCh38]
Chr10:101590155 [GRCh37]
Chr10:10q24.2		 pathogenic
NM_000392.5(ABCC2):c.868-15T>C single nucleotide variant not provided [RCV005180248] Chr10:99799192 [GRCh38]
Chr10:101558949 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.1669-19A>T single nucleotide variant not provided [RCV005164741] Chr10:99808064 [GRCh38]
Chr10:101567821 [GRCh37]
Chr10:10q24.2		 likely benign
NM_000392.5(ABCC2):c.2028G>A (p.Gly676=) single nucleotide variant not provided [RCV005173103] Chr10:99813078 [GRCh38]
Chr10:101572835 [GRCh37]
Chr10:10q24.2		 likely benign
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR297hsa-miR-297OncomiRDBexternal_infoNANA22676135

Predicted Target Of
Summary Value
Count of predictions:759
Count of miRNA genes:574
Interacting mature miRNAs:638
Transcripts:ENST00000370434, ENST00000370449, ENST00000496621
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597277720GWAS1373794_Hglycochenodeoxycholate glucuronide (1) measurement QTL GWAS1373794 (human)3e-14glycochenodeoxycholate glucuronide (1) measurement109981160399811604Human
597186843GWAS1282917_Htaurocholenate sulfate measurement QTL GWAS1282917 (human)2e-10taurocholenate sulfate measurement109980286799802868Human
597246746GWAS1342820_Hserum alanine aminotransferase measurement QTL GWAS1342820 (human)2e-21serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)109983072999830730Human
597507102GWAS1603176_Hglycocholenate sulfate measurement QTL GWAS1603176 (human)5e-44glycocholenate sulfate measurement109984376599843766Human
597088528GWAS1184602_Hserum metabolite measurement QTL GWAS1184602 (human)6e-18serum metabolite measurement109984098099840981Human
597138704GWAS1234778_H4-androsten-3beta,17beta-diol disulfate 1 measurement QTL GWAS1234778 (human)3e-124-androsten-3beta,17beta-diol disulfate 1 measurement109982039099820391Human
597321619GWAS1417693_HX-11440 measurement QTL GWAS1417693 (human)2e-21X-11440 measurement109982039099820391Human
597137689GWAS1233763_Hglycochenodeoxycholate glucuronide (1) measurement QTL GWAS1233763 (human)4e-21glycochenodeoxycholate glucuronide (1) measurement109984916299849163Human
597319957GWAS1416031_H5alpha-pregnan-diol disulfate measurement QTL GWAS1416031 (human)4e-265alpha-pregnan-diol disulfate measurement109982039099820391Human
597519757GWAS1615831_Hserum gamma-glutamyl transferase measurement QTL GWAS1615831 (human)8e-46serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109984376599843766Human
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
597143939GWAS1240013_Hserum alanine aminotransferase measurement QTL GWAS1240013 (human)4e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)109979898999798990Human
597047427GWAS1143501_Herythrocyte count QTL GWAS1143501 (human)1e-08erythrocyte countred blood cell count (CMO:0000025)109984472499844725Human
597276801GWAS1372875_HX-21471 measurement QTL GWAS1372875 (human)8e-42X-21471 measurement109981160399811604Human
597316867GWAS1412941_HX-17612 measurement QTL GWAS1412941 (human)4e-18X-17612 measurement109983399399833994Human
597187845GWAS1283919_Hdeoxycholic acid (12 or 24)-sulfate measurement QTL GWAS1283919 (human)4e-16deoxycholic acid (12 or 24)-sulfate measurement109983623999836240Human
597188025GWAS1284099_HX-21471 measurement QTL GWAS1284099 (human)2e-20X-21471 measurement109978751999787520Human
597188026GWAS1284100_HX-21471 measurement QTL GWAS1284100 (human)4e-19X-21471 measurement109983072999830730Human
597188029GWAS1284103_HX-21471 measurement QTL GWAS1284103 (human)4e-70X-21471 measurement109984472499844725Human
597329074GWAS1425148_Hglycocholenate sulfate measurement QTL GWAS1425148 (human)4e-26glycocholenate sulfate measurement109983240199832402Human
597242289GWAS1338363_Hserum metabolite measurement QTL GWAS1338363 (human)6e-12serum metabolite measurement109985153799851538Human
597329075GWAS1425149_Hglycocholenate sulfate measurement QTL GWAS1425149 (human)2e-36glycocholenate sulfate measurement109983509699835097Human
597140798GWAS1236872_HX-21467 measurement QTL GWAS1236872 (human)1e-38X-21467 measurement109985153799851538Human
597140797GWAS1236871_HX-21467 measurement QTL GWAS1236871 (human)6e-18X-21467 measurement109981550399815504Human
597253045GWAS1349119_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1349119 (human)3e-09aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)109981657099816571Human
597227316GWAS1323390_Hserum gamma-glutamyl transferase measurement QTL GWAS1323390 (human)1e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109983072999830730Human
597140795GWAS1236869_HX-21467 measurement QTL GWAS1236869 (human)2e-38X-21467 measurement109984916299849163Human
596964644GWAS1084163_Hserum alanine aminotransferase measurement QTL GWAS1084163 (human)5e-10serum alanine aminotransferase measurement109981123699811237Human
597320234GWAS1416308_HX-21470 measurement QTL GWAS1416308 (human)2e-19X-21470 measurement109982039099820391Human
597276586GWAS1372660_HX-21467 measurement QTL GWAS1372660 (human)3e-39X-21467 measurement109981160399811604Human
597186848GWAS1282922_Hpregnenediol disulfate (C21H34O8S2) measurement QTL GWAS1282922 (human)2e-13pregnenediol disulfate (C21H34O8S2) measurement109984593699845937Human
597186851GWAS1282925_Hglycocholenate sulfate measurement QTL GWAS1282925 (human)1e-49glycocholenate sulfate measurement109984098099840981Human
597321126GWAS1417200_HX-21467 measurement QTL GWAS1417200 (human)3e-108X-21467 measurement109984424999844250Human
597276582GWAS1372656_HX-21441 measurement QTL GWAS1372656 (human)1e-57X-21441 measurement109981160399811604Human
597139286GWAS1235360_H5alpha-pregnan-diol disulfate measurement QTL GWAS1235360 (human)9e-195alpha-pregnan-diol disulfate measurement109983399399833994Human
597313887GWAS1409961_HX-24588 measurement QTL GWAS1409961 (human)2e-11X-24588 measurement109983509699835097Human
597221470GWAS1317544_Hbilirubin measurement QTL GWAS1317544 (human)4e-12bilirubin measurementserum total bilirubin level (CMO:0000376)109983072999830730Human
597197535GWAS1293609_Hserum gamma-glutamyl transferase measurement QTL GWAS1293609 (human)5e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109980251299802513Human
597188177GWAS1284251_HX-21467 measurement QTL GWAS1284251 (human)3e-51X-21467 measurement109983509699835097Human
597268944GWAS1365018_Hmetabolite measurement QTL GWAS1365018 (human)6e-14metabolite measurement109984098099840981Human
597320915GWAS1416989_HX-21441 measurement QTL GWAS1416989 (human)1e-141X-21441 measurement109984424999844250Human
597321552GWAS1417626_HX-12822 measurement QTL GWAS1417626 (human)9e-21X-12822 measurement109984916299849163Human
597320520GWAS1416594_Hexecutive function measurement QTL GWAS1416594 (human)4e-09executive function measurement109978282199782822Human
597138500GWAS1234574_H4-androsten-3beta,17beta-diol disulfate 2 measurement QTL GWAS1234574 (human)2e-134-androsten-3beta,17beta-diol disulfate 2 measurement109981416299814167Human
597244618GWAS1340692_Hserum gamma-glutamyl transferase measurement QTL GWAS1340692 (human)1e-10serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109982568399825685Human
597313993GWAS1410067_Hglycocholenate sulfate measurement QTL GWAS1410067 (human)3e-25glycocholenate sulfate measurement109984814499848145Human
597453897GWAS1549971_Hserum gamma-glutamyl transferase measurement QTL GWAS1549971 (human)6e-47serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109984376599843766Human
597278913GWAS1374987_Hglycocholenate sulfate measurement QTL GWAS1374987 (human)2e-32glycocholenate sulfate measurement109981160399811604Human
597251524GWAS1347598_Hserum alanine aminotransferase measurement QTL GWAS1347598 (human)1e-13serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)109981657099816571Human
597320773GWAS1416847_Htaurocholenate sulfate measurement QTL GWAS1416847 (human)1e-22taurocholenate sulfate measurement109985077699850777Human
597143798GWAS1239872_Hserum gamma-glutamyl transferase measurement QTL GWAS1239872 (human)1e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109979898999798990Human
597316863GWAS1412937_Hmetabolite measurement QTL GWAS1412937 (human)2e-13metabolite measurement109980249999802500Human
597252606GWAS1348680_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1348680 (human)9e-11aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)109983072999830730Human
597293299GWAS1389373_Hserum alanine aminotransferase measurement QTL GWAS1389373 (human)5e-10serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)109981123699811237Human
597187442GWAS1283516_HX-21441 measurement QTL GWAS1283516 (human)3e-10X-21441 measurement109981720399817204Human
597137916GWAS1233990_Hglycochenodeoxycholate glucuronide (1) measurement QTL GWAS1233990 (human)3e-11glycochenodeoxycholate glucuronide (1) measurement109983399399833994Human
597187444GWAS1283518_HX-21441 measurement QTL GWAS1283518 (human)5e-75X-21441 measurement109984814499848145Human
597279860GWAS1375934_HX-24588 measurement QTL GWAS1375934 (human)8e-12X-24588 measurement109981407399814074Human
597252470GWAS1348544_Haspartate aminotransferase measurement QTL GWAS1348544 (human)2e-15aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)109983072999830730Human
597023079GWAS1119153_Hresponse to carboplatin QTL GWAS1119153 (human)0.000005response to carboplatin109985077699850777Human
597057378GWAS1153452_Hintelligence QTL GWAS1153452 (human)0.000001intelligence109983286599832866Human
597271139GWAS1367213_Hmetabolite measurement QTL GWAS1367213 (human)5e-13metabolite measurement109983509699835097Human
597287909GWAS1383983_Hserum gamma-glutamyl transferase measurement QTL GWAS1383983 (human)2e-33serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)109983399399833994Human

Markers in Region
G49565  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,587,239 - 101,587,441UniSTSGRCh37
Build 3610101,577,229 - 101,577,431RGDNCBI36
Celera1095,324,594 - 95,324,796RGD
Cytogenetic Map10q24UniSTS
HuRef1095,214,592 - 95,214,794UniSTS
TNG Radiation Hybrid Map1047371.0UniSTS
RH119574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,543,217 - 101,543,495UniSTSGRCh37
Build 3610101,533,207 - 101,533,485RGDNCBI36
Celera1095,280,560 - 95,280,838RGD
Cytogenetic Map10q24UniSTS
HuRef1095,170,589 - 95,170,867UniSTS
TNG Radiation Hybrid Map1047330.0UniSTS
SHGC-154232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,606,213 - 101,606,527UniSTSGRCh37
Build 3610101,596,203 - 101,596,517RGDNCBI36
Celera1095,344,194 - 95,344,508RGD
Cytogenetic Map10q24UniSTS
HuRef1095,234,054 - 95,234,368UniSTS
TNG Radiation Hybrid Map1047375.0UniSTS
ABCC2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,590,132 - 101,590,540UniSTSGRCh37
Build 3610101,580,122 - 101,580,530RGDNCBI36
Celera1095,327,484 - 95,327,892RGD
HuRef1095,217,481 - 95,217,889UniSTS
D10S2172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,553,310 - 101,553,745UniSTSGRCh37
Build 3610101,543,300 - 101,543,735RGDNCBI36
Celera1095,290,654 - 95,291,089RGD
Cytogenetic Map10q24UniSTS
HuRef1095,180,685 - 95,181,120UniSTS
GeneMap99-GB4 RH Map10467.38UniSTS
Whitehead-RH Map10558.4UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map101089.7UniSTS
D10S2421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710101,556,986 - 101,557,154UniSTSGRCh37
Build 3610101,546,976 - 101,547,144RGDNCBI36
Celera1095,294,333 - 95,294,501RGD
Cytogenetic Map10q24UniSTS
HuRef1095,184,364 - 95,184,532UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2436 2788 2244 4939 1721 2341 5 621 1936 464 2268 7264 6443 52 3704 839 1728 1609 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF144630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF163577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ005200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ245625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ245626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ245627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM765259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB120555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM000488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U66683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X96395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000370434
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,763 - 99,798,096 (+)Ensembl
Ensembl Acc Id: ENST00000496621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,792,289 - 99,794,623 (+)Ensembl
Ensembl Acc Id: ENST00000647814   ⟹   ENSP00000497274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,640 - 99,852,594 (+)Ensembl
Ensembl Acc Id: ENST00000647836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,640 - 99,796,692 (+)Ensembl
Ensembl Acc Id: ENST00000648324   ⟹   ENSP00000497248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,705 - 99,799,215 (+)Ensembl
Ensembl Acc Id: ENST00000648523   ⟹   ENSP00000497778
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,845,749 - 99,852,044 (+)Ensembl
Ensembl Acc Id: ENST00000648689   ⟹   ENSP00000496972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,640 - 99,794,348 (+)Ensembl
Ensembl Acc Id: ENST00000649459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,843,710 - 99,850,713 (+)Ensembl
Ensembl Acc Id: ENST00000649493   ⟹   ENSP00000496847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,803 - 99,799,220 (+)Ensembl
Ensembl Acc Id: ENST00000649932   ⟹   ENSP00000498120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1099,782,705 - 99,799,220 (+)Ensembl
RefSeq Acc Id: NM_000392   ⟹   NP_000383
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,852,594 (+)NCBI
GRCh3710101,542,457 - 101,611,662 (+)NCBI
Build 3610101,532,493 - 101,601,571 (+)NCBI Archive
HuRef1095,169,835 - 95,239,503 (+)ENTREZGENE
CHM1_110101,824,803 - 101,894,655 (+)NCBI
T2T-CHM13v2.010100,665,562 - 100,736,331 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717630   ⟹   XP_006717693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,794,484 - 99,852,594 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717631   ⟹   XP_006717694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,830,396 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539291   ⟹   XP_011537593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,831,694 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015675   ⟹   XP_016871164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,819,542 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424598   ⟹   XP_047280554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,843,897 (+)NCBI
RefSeq Acc Id: XM_054364791   ⟹   XP_054220766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010100,677,411 - 100,736,331 (+)NCBI
RefSeq Acc Id: XM_054364792   ⟹   XP_054220767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010100,665,562 - 100,727,634 (+)NCBI
RefSeq Acc Id: XM_054364793   ⟹   XP_054220768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010100,665,562 - 100,714,846 (+)NCBI
RefSeq Acc Id: XM_054364794   ⟹   XP_054220769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010100,665,562 - 100,713,548 (+)NCBI
RefSeq Acc Id: XM_054364795   ⟹   XP_054220770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010100,665,562 - 100,702,476 (+)NCBI
RefSeq Acc Id: XR_008488167
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010100,665,562 - 100,730,784 (+)NCBI
RefSeq Acc Id: XR_945604
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,847,047 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000383   ⟸   NM_000392
- UniProtKB: Q99663 (UniProtKB/Swiss-Prot),   Q92887 (UniProtKB/Swiss-Prot),   Q92798 (UniProtKB/Swiss-Prot),   Q92500 (UniProtKB/Swiss-Prot),   Q5T2B1 (UniProtKB/Swiss-Prot),   Q14022 (UniProtKB/Swiss-Prot),   B2RMT8 (UniProtKB/Swiss-Prot),   Q9UMS2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006717694   ⟸   XM_006717631
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006717693   ⟸   XM_006717630
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011537593   ⟸   XM_011539291
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871164   ⟸   XM_017015675
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000496972   ⟸   ENST00000648689
Ensembl Acc Id: ENSP00000497778   ⟸   ENST00000648523
Ensembl Acc Id: ENSP00000497248   ⟸   ENST00000648324
Ensembl Acc Id: ENSP00000496847   ⟸   ENST00000649493
Ensembl Acc Id: ENSP00000498120   ⟸   ENST00000649932
Ensembl Acc Id: ENSP00000497274   ⟸   ENST00000647814
RefSeq Acc Id: XP_047280554   ⟸   XM_047424598
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220767   ⟸   XM_054364792
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220768   ⟸   XM_054364793
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054220769   ⟸   XM_054364794
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054220770   ⟸   XM_054364795
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054220766   ⟸   XM_054364791
- Peptide Label: isoform X1
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q92887-F1-model_v2 AlphaFold Q92887 1-1545 view protein structure

Promoters
RGD ID:7218385
Promoter ID:EPDNEW_H14939
Type:initiation region
Name:ABCC2_1
Description:ATP binding cassette subfamily C member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14938  EPDNEW_H14940  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,640 - 99,782,700EPDNEW
RGD ID:7218389
Promoter ID:EPDNEW_H14940
Type:initiation region
Name:ABCC2_2
Description:ATP binding cassette subfamily C member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14939  EPDNEW_H14938  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381099,782,761 - 99,782,821EPDNEW
RGD ID:6787301
Promoter ID:HG_KWN:10827
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000370434,   OTTHUMT00000049825
Position:
Human AssemblyChrPosition (strand)Source
Build 3610101,532,076 - 101,532,576 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:53 AgrOrtholog
COSMIC ABCC2 COSMIC
Ensembl Genes ENSG00000023839 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000647814 ENTREZGENE
  ENST00000647814.1 UniProtKB/Swiss-Prot
  ENST00000648324.1 UniProtKB/TrEMBL
  ENST00000648523.1 UniProtKB/TrEMBL
  ENST00000648689.1 UniProtKB/TrEMBL
  ENST00000649493.1 UniProtKB/TrEMBL
  ENST00000649932.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000023839 GTEx
HGNC ID HGNC:53 ENTREZGENE
Human Proteome Map ABCC2 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot
  ABC1_TM_dom UniProtKB/Swiss-Prot
  ABC1_TM_sf UniProtKB/Swiss-Prot
  ABC_transporter-like UniProtKB/Swiss-Prot
  ABC_transporter_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot
  Multidrug-R_assoc UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1244 UniProtKB/Swiss-Prot
NCBI Gene 1244 ENTREZGENE
OMIM 601107 OMIM
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24223:SF176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot
  ABC_tran UniProtKB/Swiss-Prot
PharmGKB ABCC2 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot
SMART AAA UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot
UniProt A0A3B3IRU4_HUMAN UniProtKB/TrEMBL
  A0A3B3IRZ2_HUMAN UniProtKB/TrEMBL
  A0A3B3IS94_HUMAN UniProtKB/TrEMBL
  A0A3B3ITG8_HUMAN UniProtKB/TrEMBL
  B2RMT8 ENTREZGENE
  MRP2_HUMAN UniProtKB/Swiss-Prot
  Q14022 ENTREZGENE
  Q5T2B1 ENTREZGENE
  Q92500 ENTREZGENE
  Q92798 ENTREZGENE
  Q92887 ENTREZGENE
  Q99663 ENTREZGENE
  Q9UMS2 ENTREZGENE
UniProt Secondary B2RMT8 UniProtKB/Swiss-Prot
  Q14022 UniProtKB/Swiss-Prot
  Q5T2B1 UniProtKB/Swiss-Prot
  Q92500 UniProtKB/Swiss-Prot
  Q92798 UniProtKB/Swiss-Prot
  Q99663 UniProtKB/Swiss-Prot
  Q9UMS2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 ABCC2  ATP binding cassette subfamily C member 2  ABCC2  ATP-binding cassette, sub-family C (CFTR/MRP), member 2  Symbol and/or name change 5135510 APPROVED