ABCC6 (ATP binding cassette subfamily C member 6) - Rat Genome Database

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Gene: ABCC6 (ATP binding cassette subfamily C member 6) Homo sapiens
Analyze
Symbol: ABCC6
Name: ATP binding cassette subfamily C member 6
RGD ID: 734433
HGNC Page HGNC:57
Description: Enables ABC-type glutathione S-conjugate transporter activity and ATP binding activity. Involved in several processes, including ATP metabolic process; organic anion transport; and phosphate ion homeostasis. Located in basolateral plasma membrane and nucleoplasm. Is active in extracellular region. Implicated in arterial calcification of infancy; coronary artery disease; and pseudoxanthoma elasticum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABC34; anthracycline resistance-associated protein; ARA; ATP-binding cassette sub-family C member 6; ATP-binding cassette, sub-family C (CFTR/MRP), member 6; EST349056; GACI2; liver multidrug resistance-associated protein 6; MLP1; MOAT-E; MOATE; MRP6; multi-specific organic anion transporter E; multidrug resistance-associated protein 6; pseudoxanthoma elasticum; PXE; PXE1; URG7
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: ABCC6P1   ABCC6P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381616,149,565 - 16,223,494 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1616,149,565 - 16,223,522 (-)EnsemblGRCh38hg38GRCh38
GRCh371616,243,422 - 16,317,351 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361616,150,923 - 16,224,838 (-)NCBINCBI36Build 36hg18NCBI36
Build 341616,151,490 - 16,224,815NCBI
Celera1615,923,582 - 15,972,084 (-)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1615,637,406 - 15,701,476 (-)NCBIHuRef
HuRef1617,226,645 - 17,228,924 (+)NCBIHuRef
CHM1_11616,327,717 - 16,401,692 (-)NCBICHM1_1
T2T-CHM13v2.01616,154,422 - 16,229,003 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
9-cis-retinoic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allyl alcohol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
ATP  (EXP)
belinostat  (EXP)
benzbromarone  (EXP,ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
beryllium difluoride  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
calcein  (EXP)
calcein am  (EXP)
carbon nanotube  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt atom  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diallyl disulfide  (EXP)
diallyl trisulfide  (EXP)
dibutyl phthalate  (ISO)
diiodine  (ISO)
doxorubicin  (EXP)
emodin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethoxyquin  (ISO)
flutamide  (ISO)
furan  (ISO)
genistein  (ISO)
glutathione  (EXP)
glyphosate  (ISO)
GW 4064  (ISO)
Heliotrine  (EXP)
heptachlor  (ISO)
indometacin  (EXP)
inulin  (ISO)
isoniazide  (ISO)
kojic acid  (ISO)
L-ethionine  (ISO)
leukotriene C4  (EXP)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
magnesium atom  (ISO)
magnesium dichloride  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
methamphetamine  (EXP,ISO)
methylmercury chloride  (EXP)
mirex  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-Ethylmaleimide-S-glutathione  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP,ISO)
O-methyleugenol  (EXP)
oltipraz  (ISO)
omeprazole  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
probenecid  (EXP)
progesterone  (EXP)
propanal  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
rotenone  (ISO)
SCH 23390  (ISO)
senecionine  (EXP)
Senkirkine  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
soybean oil  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
verapamil  (EXP)
vincristine  (EXP)
warfarin  (ISO)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal calcification of the carpal bones  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal circulating cholesterol concentration  (IAGP)
Abnormal cutaneous elastic fiber morphology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal fundus morphology  (IAGP)
Abnormal hip joint morphology  (IAGP)
Abnormal retinal artery morphology  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the knee  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of thrombocytes  (IAGP)
Accelerated atherosclerosis  (IAGP)
Acne  (IAGP)
Adrenal calcification  (IAGP)
Angina pectoris  (IAGP)
Angioid streaks of the fundus  (IAGP)
Aortic dissection  (IAGP)
Arterial calcification  (IAGP)
Arterial stenosis  (IAGP)
Arteriosclerosis  (IAGP)
Arthralgia  (IAGP)
Ascites  (IAGP)
Atherosclerosis  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blue sclerae  (IAGP)
Bruising susceptibility  (IAGP)
Calcification of falx cerebri  (IAGP)
Calcification of the aorta  (IAGP)
Calcification of the auricular cartilage  (IAGP)
Calcinosis cutis  (IAGP)
Cardiogenic shock  (IAGP)
Cardiomegaly  (IAGP)
Cerebral calcification  (IAGP)
Cerebral hemorrhage  (IAGP)
Choroidal neovascularization  (IAGP)
Civatte bodies  (IAGP)
Conductive hearing impairment  (IAGP)
Congestive heart failure  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Coronary artery calcification  (IAGP)
Cortical nephrocalcinosis  (IAGP)
Cutis laxa  (IAGP)
Cyanosis  (IAGP)
Decreased DLCO  (IAGP)
Ectopic calcification  (IAGP)
Edema  (IAGP)
Elevated alkaline phosphatase of bone origin  (IAGP)
Encephalomalacia  (IAGP)
Excessive wrinkled skin  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Fetal distress  (IAGP)
Fever  (IAGP)
Fused cervical vertebrae  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatic calcification  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydrops fetalis  (IAGP)
Hyperextensible skin  (IAGP)
Hyperphosphaturia  (IAGP)
Hypertension  (IAGP)
Hypophosphatemic rickets  (IAGP)
Hypothyroidism  (IAGP)
Infantile onset  (IAGP)
Intermittent claudication  (IAGP)
Intestinal malrotation  (IAGP)
Irritability  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Lack of skin elasticity  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Localized skin lesion  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macular degeneration  (IAGP)
Medial calcification of large arteries  (IAGP)
Medial calcification of medium-sized arteries  (IAGP)
Medullary nephrocalcinosis  (IAGP)
Metamorphopsia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral stenosis  (IAGP)
Mitral valve prolapse  (IAGP)
Mixed hearing impairment  (IAGP)
Multiple lipomas  (IAGP)
Myocardial calcification  (IAGP)
Myocardial infarction  (IAGP)
Myopia  (IAGP)
Nephrocalcinosis  (IAGP)
Optic disc drusen  (IAGP)
Osteomalacia  (IAGP)
Pancreatic calcification  (IAGP)
Papule  (IAGP)
Peau d'orange  (IAGP)
Periarticular calcification  (IAGP)
Pericardial effusion  (IAGP)
Polyhydramnios  (IAGP)
Postural instability  (IAGP)
Premature occlusive vascular stenosis  (IAGP)
Pruritus  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Reduced visual acuity  (IAGP)
Renovascular hypertension  (IAGP)
Respiratory distress  (IAGP)
Restrictive cardiomyopathy  (IAGP)
Retinal hemorrhage  (IAGP)
Retinal peau d'orange  (IAGP)
Retinopathy  (IAGP)
Right atrial enlargement  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Sinus tachycardia  (IAGP)
Skin rash  (IAGP)
Stapes ankylosis  (IAGP)
Stippled calcification of the elbow  (IAGP)
Stippled calcification of the shoulder  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subcutaneous nodule  (IAGP)
Sudden cardiac death  (IAGP)
Telangiectasia of the skin  (IAGP)
Thickened nuchal skin fold  (IAGP)
Transient ischemic attack  (IAGP)
Tricuspid regurgitation  (IAGP)
Vascular dilatation  (IAGP)
Ventricular hypertrophy  (IAGP)
Visual impairment  (IAGP)
Vomiting  (IAGP)
Weak pulse  (IAGP)
White oral mucosal macule  (IAGP)
Yellow papule  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
2. Mutations in ABCC6 cause pseudoxanthoma elasticum. Bergen AA, etal., Nat Genet 2000 Jun;25(2):228-31.
3. A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticum. Cai L, etal., J Mol Med (Berl). 2001 Sep;79(9):536-46.
4. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Gheduzzi D, etal., Hum Mutat. 2004 Nov;24(5):438-9.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Transport of xenobiotics across the blood-brain barrier. Hagenbuch B, etal., News Physiol Sci 2002 Dec;17:231-4.
7. Effect of inflammation on molecular targets and drug transporters. Hanafy S, etal., J Pharm Pharm Sci. 2012;15(3):361-75.
8. Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum. Hu X, etal., Invest Ophthalmol Vis Sci. 2003 May;44(5):1824-9.
9. Targeted ablation of the abcc6 gene results in ectopic mineralization of connective tissues. Klement JF, etal., Mol Cell Biol. 2005 Sep;25(18):8299-310.
10. Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum. Li Q, etal., J Invest Dermatol. 2017 May;137(5):1025-1032. doi: 10.1016/j.jid.2016.11.042. Epub 2017 Jan 19.
11. A mouse model of beta-thalassemia shows a liver-specific down-regulation of Abcc6 expression. Martin L, etal., Am J Pathol. 2011 Feb;178(2):774-83. doi: 10.1016/j.ajpath.2010.10.004.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. Pfendner EG, etal., J Med Genet. 2007 Oct;44(10):621-8. Epub 2007 Jul 6.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Molecular genetics of pseudoxanthoma elasticum. Ringpfeil F, etal., Exp Dermatol 2001 Aug;10(4):221-8.
18. Novel mutations in the ABCC6 gene of German patients with pseudoxanthoma elasticum. Schulz V, etal., Hum Biol. 2005 Jun;77(3):367-84.
19. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Schulz V, etal., Hum Mutat. 2006 Aug;27(8):831.
20. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Trip MD, etal., Circulation. 2002 Aug 13;106(7):773-5.
Additional References at PubMed
PMID:3359381   PMID:4841083   PMID:8894702   PMID:8912525   PMID:9267806   PMID:9721217   PMID:9892204   PMID:10424734   PMID:10493829   PMID:10585762   PMID:10811882   PMID:10835642  
PMID:10913334   PMID:10954200   PMID:11058917   PMID:11179012   PMID:11427982   PMID:11431746   PMID:11439001   PMID:11536079   PMID:11702217   PMID:11776382   PMID:11880368   PMID:12384774  
PMID:12477932   PMID:12673275   PMID:12850230   PMID:12901863   PMID:14631379   PMID:15645653   PMID:15723264   PMID:15727254   PMID:15760889   PMID:15889270   PMID:15894595   PMID:15996518  
PMID:16086317   PMID:16127278   PMID:16374464   PMID:16543900   PMID:17045963   PMID:17309461   PMID:17724214   PMID:17823974   PMID:17880583   PMID:18024896   PMID:18029147   PMID:18191640  
PMID:18253096   PMID:18305351   PMID:18347285   PMID:18439156   PMID:18791038   PMID:18800149   PMID:18850323   PMID:19056482   PMID:19133228   PMID:19240061   PMID:19284998   PMID:19298904  
PMID:19339160   PMID:19341707   PMID:19343046   PMID:19904211   PMID:19929409   PMID:20032990   PMID:20075945   PMID:20301292   PMID:20463007   PMID:20541540   PMID:20801516   PMID:20855565  
PMID:21179111   PMID:21748403   PMID:21813308   PMID:21831958   PMID:21873635   PMID:21988832   PMID:22056557   PMID:22209248   PMID:22763786   PMID:22873774   PMID:23122642   PMID:23382691  
PMID:23572048   PMID:23625951   PMID:23675997   PMID:23702584   PMID:23912081   PMID:24008425   PMID:24277820   PMID:24352041   PMID:24479134   PMID:24555429   PMID:24969777   PMID:25062064  
PMID:25064003   PMID:25169437   PMID:25392903   PMID:25615550   PMID:26545497   PMID:26564082   PMID:26822593   PMID:26942607   PMID:27287205   PMID:27826008   PMID:27994049   PMID:28102862  
PMID:28186352   PMID:28536638   PMID:28592560   PMID:29385210   PMID:29501384   PMID:29656212   PMID:29662086   PMID:29704455   PMID:29709427   PMID:29722917   PMID:30328268   PMID:30423326  
PMID:30805891   PMID:30923132   PMID:30985656   PMID:31182584   PMID:32442430   PMID:32517079   PMID:32873932   PMID:33058196   PMID:33594095   PMID:33799762   PMID:33820832   PMID:34049798  
PMID:34288724   PMID:34355424   PMID:34597610   PMID:35307651   PMID:36012482   PMID:36030475   PMID:36261288   PMID:36317459   PMID:36497052   PMID:38256207  


Genomics

Comparative Map Data
ABCC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381616,149,565 - 16,223,494 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1616,149,565 - 16,223,522 (-)EnsemblGRCh38hg38GRCh38
GRCh371616,243,422 - 16,317,351 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361616,150,923 - 16,224,838 (-)NCBINCBI36Build 36hg18NCBI36
Build 341616,151,490 - 16,224,815NCBI
Celera1615,923,582 - 15,972,084 (-)NCBICelera
Cytogenetic Map16p13.11NCBI
HuRef1615,637,406 - 15,701,476 (-)NCBIHuRef
HuRef1617,226,645 - 17,228,924 (+)NCBIHuRef
CHM1_11616,327,717 - 16,401,692 (-)NCBICHM1_1
T2T-CHM13v2.01616,154,422 - 16,229,003 (-)NCBIT2T-CHM13v2.0
Abcc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39745,625,804 - 45,679,915 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl745,616,979 - 45,679,726 (-)EnsemblGRCm39 Ensembl
GRCm38745,974,110 - 46,030,491 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl745,967,555 - 46,030,302 (-)EnsemblGRCm38mm10GRCm38
MGSCv37753,231,750 - 53,285,656 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36745,844,422 - 45,898,327 (-)NCBIMGSCv36mm8
MGSCv36735,552,479 - 35,606,515 (-)NCBIMGSCv36mm8
Celera741,445,055 - 41,502,729 (-)NCBICelera
Cytogenetic Map7B3NCBI
cM Map729.64NCBI
Abcc6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81105,583,681 - 105,637,895 (-)NCBIGRCr8
mRatBN7.2196,447,224 - 96,501,464 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl196,447,251 - 96,501,464 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1101,833,395 - 101,887,602 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01110,305,383 - 110,359,590 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01103,595,749 - 103,649,961 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01101,954,786 - 102,013,252 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1101,959,540 - 102,013,243 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01103,042,723 - 103,096,453 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4196,448,588 - 96,524,655 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1196,526,698 - 96,602,766 (-)NCBI
Celera190,699,816 - 90,752,348 (-)NCBICelera
Cytogenetic Map1q22NCBI
Abcc6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955442865,238 - 922,221 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955442865,292 - 921,739 (-)NCBIChiLan1.0ChiLan1.0
ABCC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1627,800,060 - 27,849,170 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl627,798,835 - 27,848,689 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha629,163,710 - 29,212,774 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0627,963,339 - 28,012,220 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl627,963,425 - 28,011,739 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1627,766,376 - 27,815,441 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0627,656,383 - 27,705,374 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0628,061,767 - 28,110,633 (+)NCBIUU_Cfam_GSD_1.0
Abcc6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344115,372,021 - 115,412,095 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365013,469,928 - 3,508,577 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl328,261,282 - 28,356,646 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1328,260,935 - 28,356,706 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2328,960,801 - 29,063,405 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCC6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1515,169,725 - 15,243,731 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl515,168,156 - 15,242,811 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606814,739,120 - 14,812,929 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Abcc6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624782594,511 - 640,180 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624782590,174 - 640,576 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ABCC6
1290 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001171.6(ABCC6):c.2965G>A (p.Gly989Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002476060]|not provided [RCV000522447] Chr16:16169676 [GRCh38]
Chr16:16263533 [GRCh37]
Chr16:16p13.11		 uncertain significance
ABCC6, 22-BP DEL deletion Pseudoxanthoma elasticum [RCV000006945] Chr16:16p13.1 pathogenic
NC_000016.10:g.(?_15703134)_(16223472_?)del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006946] Chr16:15703134..16223472 [GRCh38]
Chr16:15796991..16317329 [GRCh37]
Chr16:16p13.11		 pathogenic
NG_007558.2:g.(60799_60814)_(77206_77221)del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006951] Chr16:16151266..16167658 [GRCh38]
Chr16:16245123..16261515 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1867+60A>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549193]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549194]|Pseudoxanthoma elasticum, forme fruste [RCV001549195]|not provided [RCV001713034] Chr16:16187064 [GRCh38]
Chr16:16280921 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499136]|not provided [RCV000132641] Chr16:16154767 [GRCh38]
Chr16:16248624 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|uncertain significance
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253238]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000191056]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492516]|Pseudoxanthoma elasticum, forme fruste [RCV002253237]|not provided [RCV000132642]|not specified [RCV001528636] Chr16:16208729 [GRCh38]
Chr16:16302586 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.1760C>G (p.Ser587Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505116]|not provided [RCV000132639] Chr16:16188850 [GRCh38]
Chr16:16282707 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV000023276]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000023275]|not provided [RCV001090336] Chr16:16178919 [GRCh38]
Chr16:16272776 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV000023278]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000023277] Chr16:16150765 [GRCh38]
Chr16:16244622 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) single nucleotide variant ABCC6-related condition [RCV003415731]|Arterial calcification, generalized, of infancy, 2 [RCV000023279]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000023280]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000191057]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002477007]|not provided [RCV000429924] Chr16:16190247 [GRCh38]
Chr16:16284104 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.450dup (p.Ala151fs) duplication Arterial calcification, generalized, of infancy, 2 [RCV000023281] Chr16:16219577..16219578 [GRCh38]
Chr16:16313434..16313435 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) single nucleotide variant ABCC6-related condition [RCV003398456]|ABCC6-related disorder [RCV002291267]|Arterial calcification, generalized, of infancy, 2 [RCV000023272]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006937]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000762959]|Cutis laxa [RCV000415101]|See cases [RCV002251886]|not provided [RCV000254838] Chr16:16163078 [GRCh38]
Chr16:16256935 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2787+1G>T single nucleotide variant ABCC6-related condition [RCV003390647]|Arterial calcification, generalized, of infancy, 2 [RCV000087145]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006938]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000763363]|not provided [RCV000254806] Chr16:16173283 [GRCh38]
Chr16:16267140 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006939]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496287]|not provided [RCV000731285] Chr16:16163086 [GRCh38]
Chr16:16256943 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3341G>C (p.Arg1114Pro) single nucleotide variant ABCC6-related condition [RCV003390648]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006940]|not provided [RCV002512858] Chr16:16163158 [GRCh38]
Chr16:16257015 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006941]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496288]|not provided [RCV001588804] Chr16:16157770 [GRCh38]
Chr16:16251627 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV000023273]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006942]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001535919]|not provided [RCV000254915] Chr16:16154974 [GRCh38]
Chr16:16248831 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4243_4244insAGAA (p.Ala1415fs) insertion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006944] Chr16:16150737..16150738 [GRCh38]
Chr16:16244594..16244595 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met) single nucleotide variant Abnormality of the eye [RCV000505108]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006947]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002504757]|not provided [RCV002512859] Chr16:16163110 [GRCh38]
Chr16:16256967 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253195]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006948]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002504758]|Pseudoxanthoma elasticum, forme fruste [RCV002253194]|not provided [RCV000132640]|not specified [RCV001529533] Chr16:16157742 [GRCh38]
Chr16:16251599 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) single nucleotide variant ABCC6-related condition [RCV003904812]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006949]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000762960]|not provided [RCV000255802] Chr16:16163087 [GRCh38]
Chr16:16256944 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006950]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001536083]|See cases [RCV002251887]|not provided [RCV000255402] Chr16:16163009 [GRCh38]
Chr16:16256866 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3736-1G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV000023274]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006952]|not provided [RCV002512860] Chr16:16157810 [GRCh38]
Chr16:16251667 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4015C>T (p.Arg1339Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006954]|Low-set, posteriorly rotated ears [RCV002509146]|not provided [RCV001781196] Chr16:16154899 [GRCh38]
Chr16:16248756 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4375C>T (p.Arg1459Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006955]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482835]|not provided [RCV001851712]|not specified [RCV000455869] Chr16:16150606 [GRCh38]
Chr16:16244463 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3892G>T (p.Val1298Phe) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006956] Chr16:16155022 [GRCh38]
Chr16:16248879 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006957]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000762958]|not provided [RCV000255838] Chr16:16155010 [GRCh38]
Chr16:16248867 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3961G>A (p.Gly1321Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006958] Chr16:16154953 [GRCh38]
Chr16:16248810 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3712G>C (p.Asp1238His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000006959] Chr16:16159505 [GRCh38]
Chr16:16253362 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.5(ABCC6):c.1087_1119del33 (p.Gln363_Arg373del) deletion Pseudoxanthoma elasticum [RCV000006960] Chr16:16202058..16202090 [GRCh38]
Chr16:16295915..16295947 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1 copy number loss See cases [RCV000050818] Chr16:14816348..18047194 [GRCh38]
Chr16:14910205..18141051 [GRCh37]
Chr16:14817706..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1 copy number loss See cases [RCV000050970] Chr16:14816348..18658403 [GRCh38]
Chr16:14910205..18669725 [GRCh37]
Chr16:14817706..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000050861] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|Hyperactivity [RCV000050864]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050863]|See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000050601] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050377]|See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3 copy number gain See cases [RCV000051358] Chr16:14717194..16450842 [GRCh38]
Chr16:14811051..16544699 [GRCh37]
Chr16:14718552..16452200 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3 copy number gain See cases [RCV000051359] Chr16:14717194..16508540 [GRCh38]
Chr16:14811051..16602397 [GRCh37]
Chr16:14718552..16509898 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816148-16431632)x3 copy number gain See cases [RCV000051387] Chr16:14816148..16431632 [GRCh38]
Chr16:14910005..16525489 [GRCh37]
Chr16:14817506..16432990 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000051392] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3 copy number gain See cases [RCV000051393] Chr16:14823949..16281234 [GRCh38]
Chr16:14917806..16375091 [GRCh37]
Chr16:14825307..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3 copy number gain See cases [RCV000051396] Chr16:14850703..16211879 [GRCh38]
Chr16:14944560..16305736 [GRCh37]
Chr16:14852061..16213237 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16206199)x3 copy number gain See cases [RCV000051397] Chr16:14907656..16206199 [GRCh38]
Chr16:15001513..16300056 [GRCh37]
Chr16:14909014..16207557 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14907656-16281234)x3 copy number gain See cases [RCV000051398] Chr16:14907656..16281234 [GRCh38]
Chr16:15001513..16375091 [GRCh37]
Chr16:14909014..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3 copy number gain See cases [RCV000051399] Chr16:15050263..18212997 [GRCh38]
Chr16:15144120..18306854 [GRCh37]
Chr16:15051621..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3 copy number gain See cases [RCV000051353] Chr16:14609647..18765817 [GRCh38]
Chr16:14703504..18777139 [GRCh37]
Chr16:14611005..18684640 [NCBI36]
Chr16:16p13.12-12.3		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3 copy number gain See cases [RCV000051354] Chr16:14639096..16431491 [GRCh38]
Chr16:14732953..16525348 [GRCh37]
Chr16:14640454..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668182-16493213)x3 copy number gain See cases [RCV000051355] Chr16:14668182..16493213 [GRCh38]
Chr16:14762039..16587070 [GRCh37]
Chr16:14669540..16494571 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14668382-16678513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051357]|See cases [RCV000051357] Chr16:14668382..16678513 [GRCh38]
Chr16:14762239..16772370 [GRCh37]
Chr16:14669740..16679871 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3 copy number gain See cases [RCV000051141] Chr16:15457445..18658403 [GRCh38]
Chr16:15551302..18669725 [GRCh37]
Chr16:15458803..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1 copy number loss See cases [RCV000051057] Chr16:15140576..18658403 [GRCh38]
Chr16:15234433..18669725 [GRCh37]
Chr16:15141934..18577226 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1 copy number loss See cases [RCV000052487] Chr16:14823949..18055828 [GRCh38]
Chr16:14917806..18149685 [GRCh37]
Chr16:14825307..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310395-18213149)x1 copy number loss See cases [RCV000052512] Chr16:15310395..18213149 [GRCh38]
Chr16:15404252..18307006 [GRCh37]
Chr16:15311753..18214507 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3 copy number gain See cases [RCV000052515] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1 copy number loss See cases [RCV000052516] Chr16:15434653..18055828 [GRCh38]
Chr16:15528510..18149685 [GRCh37]
Chr16:15436011..18057186 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 copy number loss See cases [RCV000052517] Chr16:15434653..16281234 [GRCh38]
Chr16:15528510..16375091 [GRCh37]
Chr16:15436011..16282592 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3 copy number gain See cases [RCV000053093] Chr16:15060830..18212997 [GRCh38]
Chr16:15154687..18306854 [GRCh37]
Chr16:15062188..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15185940-18658544)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053094]|See cases [RCV000053094] Chr16:15185940..18658544 [GRCh38]
Chr16:15279797..18669866 [GRCh37]
Chr16:15187298..18577367 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000053095] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000053096] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:15457445-17169859)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053308]|See cases [RCV000053308] Chr16:15457445..17169859 [GRCh38]
Chr16:15551302..17263716 [GRCh37]
Chr16:15458803..17171217 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15187330-16281234)x3 copy number gain See cases [RCV000053097] Chr16:15187330..16281234 [GRCh38]
Chr16:15281187..16375091 [GRCh37]
Chr16:15188688..16282592 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3 copy number gain See cases [RCV000053098] Chr16:15299037..18267893 [GRCh38]
Chr16:15392894..18361750 [GRCh37]
Chr16:15300395..18269251 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3 copy number gain See cases [RCV000053099] Chr16:15310595..18620659 [GRCh38]
Chr16:15404452..18631981 [GRCh37]
Chr16:15311953..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3 copy number gain See cases [RCV000053102] Chr16:15398460..18047194 [GRCh38]
Chr16:15492317..18141051 [GRCh37]
Chr16:15399818..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
NM_001171.6(ABCC6):c.2393C>T (p.Pro798Leu) single nucleotide variant not provided [RCV000489677] Chr16:16178820 [GRCh38]
Chr16:16272677 [GRCh37]
Chr16:16180178 [NCBI36]
Chr16:16p13.11		 likely pathogenic|uncertain significance|not provided
NM_001171.5(ABCC6):c.1517G>A (p.Trp506Ter) single nucleotide variant Malignant melanoma [RCV000062971] Chr16:16190282 [GRCh38]
Chr16:16284139 [GRCh37]
Chr16:16191640 [NCBI36]
Chr16:16p13.11		 not provided
Single allele deletion 16p13.11 recurrent microdeletion syndrome [RCV003221320] Chr16:14692101..16527136 [GRCh38]
Chr16:16p13.12-13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3306+1del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000190562] Chr16:16165622 [GRCh38]
Chr16:16259479 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1 copy number loss See cases [RCV000050863] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
Single allele deletion Epilepsy [RCV001293377] Chr16:14968859..16363239 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1233T>C (p.Asn411=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253236]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253234]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002498650]|Pseudoxanthoma elasticum, forme fruste [RCV002253235]|not provided [RCV000132638] Chr16:16198126 [GRCh38]
Chr16:16291983 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3 copy number gain See cases [RCV000050377] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1 copy number loss See cases [RCV000134456] Chr16:15398450..16211820 [GRCh38]
Chr16:15492307..16305677 [GRCh37]
Chr16:15399808..16213178 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1 copy number loss See cases [RCV000135322] Chr16:14716125..16383721 [GRCh38]
Chr16:14809982..16477578 [GRCh37]
Chr16:14717483..16385079 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1 copy number loss See cases [RCV000135502] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000135525] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3 copy number gain See cases [RCV000136541] Chr16:15457445..16633564 [GRCh38]
Chr16:15551302..16727421 [GRCh37]
Chr16:15458803..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3 copy number gain See cases [RCV000136807] Chr16:15060830..18535437 [GRCh38]
Chr16:15154687..18546759 [GRCh37]
Chr16:15062188..18454260 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3 copy number gain See cases [RCV000137429] Chr16:14783830..16467294 [GRCh38]
Chr16:14877687..16561151 [GRCh37]
Chr16:14785188..16468652 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3 copy number gain See cases [RCV000137451] Chr16:15261472..18768479 [GRCh38]
Chr16:15355329..18779801 [GRCh37]
Chr16:15262830..18687302 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3 copy number gain See cases [RCV000137543] Chr16:14783830..18680735 [GRCh38]
Chr16:14877687..18692057 [GRCh37]
Chr16:14785188..18599558 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3 copy number gain See cases [RCV000137588] Chr16:15194583..18726698 [GRCh38]
Chr16:15288440..18738020 [GRCh37]
Chr16:15195941..18645521 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3 copy number gain See cases [RCV000137700] Chr16:15186140..18783183 [GRCh38]
Chr16:15279997..18794505 [GRCh37]
Chr16:15187498..18702006 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3 copy number gain See cases [RCV000137491] Chr16:15194583..18170423 [GRCh38]
Chr16:15288440..18264280 [GRCh37]
Chr16:15195941..18171781 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3 copy number gain See cases [RCV000137632] Chr16:14783830..16753905 [GRCh38]
Chr16:14877687..16847762 [GRCh37]
Chr16:14785188..16755263 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3 copy number gain See cases [RCV000137336] Chr16:15194583..18214016 [GRCh38]
Chr16:15288440..18307873 [GRCh37]
Chr16:15195941..18215374 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3 copy number gain See cases [RCV000137408] Chr16:14783830..16741305 [GRCh38]
Chr16:14877687..16835162 [GRCh37]
Chr16:14785188..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1 copy number loss See cases [RCV000138037] Chr16:14816259..16431491 [GRCh38]
Chr16:14910116..16525348 [GRCh37]
Chr16:14817617..16432849 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3 copy number gain See cases [RCV000138207] Chr16:15345033..16431491 [GRCh38]
Chr16:15438890..16525348 [GRCh37]
Chr16:15346391..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1 copy number loss See cases [RCV000138104] Chr16:14783830..16234088 [GRCh38]
Chr16:14877687..16327945 [GRCh37]
Chr16:14785188..16235446 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3 copy number gain See cases [RCV000138003] Chr16:15194583..18236409 [GRCh38]
Chr16:15288440..18330266 [GRCh37]
Chr16:15195941..18237767 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1 copy number loss See cases [RCV000138168] Chr16:15398450..18212997 [GRCh38]
Chr16:15492307..18306854 [GRCh37]
Chr16:15399808..18214355 [NCBI36]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15345033-16753905)x3 copy number gain See cases [RCV000137763] Chr16:15345033..16753905 [GRCh38]
Chr16:15438890..16847762 [GRCh37]
Chr16:15346391..16755263 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3 copy number gain See cases [RCV000137801] Chr16:14783830..16268850 [GRCh38]
Chr16:14877687..16362707 [GRCh37]
Chr16:14785188..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1 copy number loss See cases [RCV000138825] Chr16:15457205..18212984 [GRCh38]
Chr16:15551062..18306841 [GRCh37]
Chr16:15458563..18214342 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1 copy number loss See cases [RCV000138522] Chr16:14783830..16198378 [GRCh38]
Chr16:14877687..16292235 [GRCh37]
Chr16:14785188..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15398450-16198378)x1 copy number loss See cases [RCV000138525] Chr16:15398450..16198378 [GRCh38]
Chr16:15492307..16292235 [GRCh37]
Chr16:15399808..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3 copy number gain See cases [RCV000138254] Chr16:14783830..18768479 [GRCh38]
Chr16:14877687..18779801 [GRCh37]
Chr16:14785188..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3 copy number gain See cases [RCV000138546] Chr16:15186140..18768479 [GRCh38]
Chr16:15279997..18779801 [GRCh37]
Chr16:15187498..18687302 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3 copy number gain See cases [RCV000139447] Chr16:14832186..16741305 [GRCh38]
Chr16:14926043..16835162 [GRCh37]
Chr16:14833544..16742663 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14954894-16198378)x1 copy number loss See cases [RCV000139438] Chr16:14954894..16198378 [GRCh38]
Chr16:15048751..16292235 [GRCh37]
Chr16:14956252..16199736 [NCBI36]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:15345033-16268850)x3 copy number gain See cases [RCV000139195] Chr16:15345033..16268850 [GRCh38]
Chr16:15438890..16362707 [GRCh37]
Chr16:15346391..16270208 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3 copy number gain See cases [RCV000139051] Chr16:15184811..18535419 [GRCh38]
Chr16:15278668..18546741 [GRCh37]
Chr16:15186169..18454242 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:16158812-16234042)x3 copy number gain See cases [RCV000140350] Chr16:16158812..16234042 [GRCh38]
Chr16:16252669..16327899 [GRCh37]
Chr16:16160170..16235400 [NCBI36]
Chr16:16p13.11		 benign
GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3 copy number gain See cases [RCV000139898] Chr16:15388063..16450562 [GRCh38]
Chr16:15481920..16544419 [GRCh37]
Chr16:15389421..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1 copy number loss See cases [RCV000139649] Chr16:15398450..18068310 [GRCh38]
Chr16:15492307..18162167 [GRCh37]
Chr16:15399808..18069668 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:16151468-16165427)x1 copy number loss See cases [RCV000141134] Chr16:16151468..16165427 [GRCh38]
Chr16:16245325..16259284 [GRCh37]
Chr16:16152826..16166785 [NCBI36]
Chr16:16p13.11		 benign
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4 copy number gain See cases [RCV000141231] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16234983)x3 copy number gain See cases [RCV000140897] Chr16:15388063..16234983 [GRCh38]
Chr16:15481920..16328840 [GRCh37]
Chr16:15389421..16236341 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15344307-16294387)x3 copy number gain See cases [RCV000140800] Chr16:15344307..16294387 [GRCh38]
Chr16:15438164..16388244 [GRCh37]
Chr16:15345665..16295745 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3 copy number gain See cases [RCV000140802] Chr16:14799872..16440033 [GRCh38]
Chr16:14893729..16533890 [GRCh37]
Chr16:14801230..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3 copy number gain See cases [RCV000140646] Chr16:15128213..18577521 [GRCh38]
Chr16:15222070..18588843 [GRCh37]
Chr16:15129571..18496344 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3 copy number gain See cases [RCV000140664] Chr16:15186140..18068310 [GRCh38]
Chr16:15279997..18162167 [GRCh37]
Chr16:15187498..18069668 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3 copy number gain See cases [RCV000140931] Chr16:14806311..16439385 [GRCh38]
Chr16:14900168..16533242 [GRCh37]
Chr16:14807669..16440743 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3 copy number gain See cases [RCV000140727] Chr16:14686278..16431491 [GRCh38]
Chr16:14780135..16525348 [GRCh37]
Chr16:14687636..16432849 [NCBI36]
Chr16:16p13.12-13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3 copy number gain See cases [RCV000140763] Chr16:14783830..16450901 [GRCh38]
Chr16:14877687..16544758 [GRCh37]
Chr16:14785188..16452259 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3 copy number gain See cases [RCV000141937] Chr16:14799175..16450562 [GRCh38]
Chr16:14893032..16544419 [GRCh37]
Chr16:14800533..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15388063-16232220)x3 copy number gain See cases [RCV000141942] Chr16:15388063..16232220 [GRCh38]
Chr16:15481920..16326077 [GRCh37]
Chr16:15389421..16233578 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3 copy number gain See cases [RCV000141961] Chr16:14799023..16440033 [GRCh38]
Chr16:14892880..16533890 [GRCh37]
Chr16:14800381..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1 copy number loss See cases [RCV000141894] Chr16:14805819..16420254 [GRCh38]
Chr16:14899676..16514111 [GRCh37]
Chr16:14807177..16421612 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3 copy number gain See cases [RCV000141850] Chr16:15382367..16450562 [GRCh38]
Chr16:15476224..16544419 [GRCh37]
Chr16:15383725..16451920 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1 copy number loss See cases [RCV000141748] Chr16:14802528..16236815 [GRCh38]
Chr16:14896385..16330672 [GRCh37]
Chr16:14803886..16238173 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3 copy number gain See cases [RCV000141751] Chr16:14772426..16440033 [GRCh38]
Chr16:14866283..16533890 [GRCh37]
Chr16:14773784..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1 copy number loss See cases [RCV000141796] Chr16:14772427..16298053 [GRCh38]
Chr16:14866284..16391910 [GRCh37]
Chr16:14773785..16299411 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3 copy number gain See cases [RCV000141667] Chr16:15325296..18078611 [GRCh38]
Chr16:15419153..18172468 [GRCh37]
Chr16:15326654..18079969 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3 copy number gain See cases [RCV000142352] Chr16:14806274..16440033 [GRCh38]
Chr16:14900131..16533890 [GRCh37]
Chr16:14807632..16441391 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1 copy number loss See cases [RCV000142363] Chr16:14803768..16400926 [GRCh38]
Chr16:14897625..16494783 [GRCh37]
Chr16:14805126..16402284 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14956111-16202043)x1 copy number loss See cases [RCV000142256] Chr16:14956111..16202043 [GRCh38]
Chr16:15049968..16295900 [GRCh37]
Chr16:14957469..16203401 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3 copy number gain See cases [RCV000142280] Chr16:14803931..16199448 [GRCh38]
Chr16:14897788..16293305 [GRCh37]
Chr16:14805289..16200806 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3 copy number gain See cases [RCV000142135] Chr16:15218552..18148856 [GRCh38]
Chr16:15312409..18242713 [GRCh37]
Chr16:15219910..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15387890-16294387)x1 copy number loss See cases [RCV000142066] Chr16:15387890..16294387 [GRCh38]
Chr16:15481747..16388244 [GRCh37]
Chr16:15389248..16295745 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3 copy number gain See cases [RCV000142145] Chr16:15356432..16364551 [GRCh38]
Chr16:15450289..16458408 [GRCh37]
Chr16:15357790..16365909 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3 copy number gain See cases [RCV000142084] Chr16:14806325..16450161 [GRCh38]
Chr16:14900182..16544018 [GRCh37]
Chr16:14807683..16451519 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3 copy number gain See cases [RCV000142092] Chr16:15034128..16427245 [GRCh38]
Chr16:15127985..16521102 [GRCh37]
Chr16:15035486..16428603 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15398450-16268850)x1 copy number loss See cases [RCV000143025] Chr16:15398450..16268850 [GRCh38]
Chr16:15492307..16362707 [GRCh37]
Chr16:15399808..16270208 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1 copy number loss See cases [RCV000142822] Chr16:14816356..16648337 [GRCh38]
Chr16:14910213..16742194 [GRCh37]
Chr16:14817714..16649695 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1 copy number loss See cases [RCV000142851] Chr16:14816356..16431517 [GRCh38]
Chr16:14910213..16525374 [GRCh37]
Chr16:14817714..16432875 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1 copy number loss See cases [RCV000143096] Chr16:14803931..16414182 [GRCh38]
Chr16:14897788..16508039 [GRCh37]
Chr16:14805289..16415540 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1 copy number loss See cases [RCV000142529] Chr16:15457445..18047194 [GRCh38]
Chr16:15551302..18141051 [GRCh37]
Chr16:15458803..18048552 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3 copy number gain See cases [RCV000142565] Chr16:14816348..16678513 [GRCh38]
Chr16:14910205..16772370 [GRCh37]
Chr16:14817706..16679871 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3 copy number gain See cases [RCV000143416] Chr16:15223052..18148856 [GRCh38]
Chr16:15316909..18242713 [GRCh37]
Chr16:15224410..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3 copy number gain See cases [RCV000143320] Chr16:14783830..16431491 [GRCh38]
Chr16:14877687..16525348 [GRCh37]
Chr16:14785188..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1 copy number loss See cases [RCV000143204] Chr16:15398450..18272881 [GRCh38]
Chr16:15492307..18366738 [GRCh37]
Chr16:15399808..18274239 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3 copy number gain See cases [RCV000143143] Chr16:14783830..18536926 [GRCh38]
Chr16:14877687..18548248 [GRCh37]
Chr16:14785188..18455749 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:15355839-16294739)x1 copy number loss See cases [RCV000143230] Chr16:15355839..16294739 [GRCh38]
Chr16:15449696..16388596 [GRCh37]
Chr16:15357197..16296097 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3 copy number gain See cases [RCV000143165] Chr16:15222856..18148856 [GRCh38]
Chr16:15316713..18242713 [GRCh37]
Chr16:15224214..18150214 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3 copy number gain See cases [RCV000148077] Chr16:15186140..18620659 [GRCh38]
Chr16:15279997..18631981 [GRCh37]
Chr16:15187498..18539482 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3 copy number gain See cases [RCV000148067] Chr16:14816348..16431491 [GRCh38]
Chr16:14910205..16525348 [GRCh37]
Chr16:14817706..16432849 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3 copy number gain See cases [RCV000143608] Chr16:14794724..16404227 [GRCh38]
Chr16:14888581..16498084 [GRCh37]
Chr16:14796082..16405585 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3 copy number gain See cases [RCV000148105] Chr16:14816348..16633564 [GRCh38]
Chr16:14910205..16727421 [GRCh37]
Chr16:14817706..16634922 [NCBI36]
Chr16:16p13.11		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3 copy number gain See cases [RCV000148208] Chr16:15310595..18212997 [GRCh38]
Chr16:15404452..18306854 [GRCh37]
Chr16:15311953..18214355 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3 copy number gain See cases [RCV000148146] Chr16:15186140..18658403 [GRCh38]
Chr16:15279997..18669725 [GRCh37]
Chr16:15187498..18577226 [NCBI36]
Chr16:16p13.11-12.3		 uncertain significance
GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3 copy number gain See cases [RCV000148114] Chr16:14816348..16580464 [GRCh38]
Chr16:14910205..16674321 [GRCh37]
Chr16:14817706..16581822 [NCBI36]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln) single nucleotide variant ABCC6-related condition [RCV003409383]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499158]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000763364]|not provided [RCV000255202] Chr16:16190246 [GRCh38]
Chr16:16284103 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x1 copy number loss See cases [RCV000240127] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499080]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002500955]|not provided [RCV000255253] Chr16:16154898 [GRCh38]
Chr16:16248755 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:15507184-16315198)x3 copy number gain See cases [RCV000240168] Chr16:15507184..16315198 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2814C>A (p.Tyr938Ter) single nucleotide variant not provided [RCV000273697] Chr16:16169827 [GRCh38]
Chr16:16263684 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3614_3615del (p.Ser1205fs) microsatellite not provided [RCV000287492] Chr16:16161456..16161457 [GRCh38]
Chr16:16255313..16255314 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15730753-16276115)x3 copy number gain See cases [RCV000240086] Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001171.6(ABCC6):c.3398G>C (p.Gly1133Ala) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499057]|not provided [RCV000255412] Chr16:16163101 [GRCh38]
Chr16:16256958 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
Single allele duplication Intestinal malrotation [RCV000754987] Chr16:15491492..16292218 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15489920-18141051)x3 copy number gain See cases [RCV000240098] Chr16:15489920..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15501629-16327230)x3 copy number gain See cases [RCV000239865] Chr16:15501629..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss See cases [RCV000239901] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327230)x3 copy number gain See cases [RCV000239980] Chr16:15494600..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15730753-16276115)x1 copy number loss See cases [RCV000239982] Chr16:15730753..16276115 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x1 copy number loss See cases [RCV000511321] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16292235)x1 copy number loss See cases [RCV000240260] Chr16:15494600..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2855TCCTCT[1] (p.952FL[1]) microsatellite Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499327]|not provided [RCV000255723] Chr16:16169775..16169780 [GRCh38]
Chr16:16263632..16263637 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) single nucleotide variant ABCC6-related condition [RCV003920020]|Arterial calcification, generalized, of infancy, 2 [RCV002288946]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499064]|not provided [RCV000256117]|not specified [RCV000455861] Chr16:16202006 [GRCh38]
Chr16:16295863 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16327230)x3 copy number gain See cases [RCV000240480] Chr16:15489920..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14910205-16327230)x3 copy number gain See cases [RCV000240601] Chr16:14910205..16327230 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3735+55del deletion Arterial calcification, generalized, of infancy, 2 [RCV001549154]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549155]|Pseudoxanthoma elasticum, forme fruste [RCV001549156]|not provided [RCV001713031] Chr16:16159427 [GRCh38]
Chr16:16253284 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.560C>T (p.Ala187Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489185]|not provided [RCV000487516] Chr16:16214364 [GRCh38]
Chr16:16308221 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15507184-16306653)x3 copy number gain See cases [RCV000240297] Chr16:15507184..16306653 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain See cases [RCV000240491] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000502001]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000765256]|not provided [RCV000513133] Chr16:16192837 [GRCh38]
Chr16:16286694 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.3507-3C>T single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253345]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499267]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002503979]|Finnish congenital nephrotic syndrome [RCV001258225]|Pseudoxanthoma elasticum, forme fruste [RCV002253344]|not provided [RCV001520632]|not specified [RCV000393125] Chr16:16161567 [GRCh38]
Chr16:16255424 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) single nucleotide variant ABCC6-related disorder [RCV002291274]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499195]|not provided [RCV000300804] Chr16:16208780 [GRCh38]
Chr16:16302637 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2935G>C (p.Gly979Arg) single nucleotide variant not provided [RCV000489042] Chr16:16169706 [GRCh38]
Chr16:16263563 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr) single nucleotide variant not provided [RCV000489433] Chr16:16188971 [GRCh38]
Chr16:16282828 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.2821G>A (p.Ala941Thr) single nucleotide variant Inborn genetic diseases [RCV003267329] Chr16:16169820 [GRCh38]
Chr16:16263677 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2428G>A (p.Val810Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499307]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481553]|not provided [RCV000489525] Chr16:16177614 [GRCh38]
Chr16:16271471 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4002G>C (p.Gly1334=) single nucleotide variant not provided [RCV000487735] Chr16:16154912 [GRCh38]
Chr16:16248769 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.1765_1766insCTGC (p.His589fs) insertion not provided [RCV000722873] Chr16:16188844..16188845 [GRCh38]
Chr16:16282701..16282702 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) single nucleotide variant not provided [RCV000488145] Chr16:16178920 [GRCh38]
Chr16:16272777 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 copy number gain not provided [RCV002292936] Chr16:15458733..18520588 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.1868-5T>G single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499193]|not provided [RCV000488965] Chr16:16185039 [GRCh38]
Chr16:16278896 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3 copy number gain See cases [RCV000598738] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 copy number gain See cases [RCV000598971] Chr16:15499057..18264837 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) single nucleotide variant not provided [RCV000585541]|not specified [RCV001700226] Chr16:16221689 [GRCh38]
Chr16:16315546 [GRCh37]
Chr16:16p13.11		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.4249C>G (p.Leu1417Val) single nucleotide variant not provided [RCV000722705] Chr16:16150732 [GRCh38]
Chr16:16244589 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499286]|not provided [RCV000413335] Chr16:16214428 [GRCh38]
Chr16:16308285 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) single nucleotide variant ABCC6-related condition [RCV003902456]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499037]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481268]|not provided [RCV000413373] Chr16:16202045 [GRCh38]
Chr16:16295902 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) single nucleotide variant ABCC6-related condition [RCV003409571]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499335]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481269]|not provided [RCV000413984] Chr16:16163008 [GRCh38]
Chr16:16256865 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:16295900-16508304)x1 copy number loss See cases [RCV000449353] Chr16:16295900..16508304 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18242712)x3 copy number gain See cases [RCV000449425] Chr16:15316618..18242712 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15422920-18181971)x1 copy number loss See cases [RCV000449218] Chr16:15422920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16533890)x3 copy number gain See cases [RCV000449310] Chr16:14866283..16533890 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16494783)x1 copy number loss See cases [RCV000449476] Chr16:14866283..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1 copy number loss See cases [RCV000446824] Chr16:16247252..16258276 [GRCh37]
Chr16:16p13.11		 conflicting data from submitters
GRCh37/hg19 16p13.11(chr16:14892713-16533890)x3 copy number gain See cases [RCV000447682] Chr16:14892713..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16300012-16320879)x1 copy number loss See cases [RCV000446347] Chr16:16300012..16320879 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14892880-16533890)x1 copy number loss See cases [RCV000446976] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x3 copy number gain See cases [RCV000446987] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897372-16495076)x1 copy number loss See cases [RCV000446228] Chr16:14897372..16495076 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16390970)x3 copy number gain See cases [RCV000446288] Chr16:14866283..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855348)x3 copy number gain See cases [RCV000446392] Chr16:14866283..16855348 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14910205-16586870)x3 copy number gain See cases [RCV000446726] Chr16:14910205..16586870 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain See cases [RCV000447011] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18172468)x3 copy number gain See cases [RCV000447066] Chr16:15193982..18172468 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14899958-16519467)x3 copy number gain See cases [RCV000446766] Chr16:14899958..16519467 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897243-16516109)x3 copy number gain See cases [RCV000447511] Chr16:14897243..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16300012-16327171)x3 copy number gain See cases [RCV000446316] Chr16:16300012..16327171 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15418908-16388596)x3 copy number gain See cases [RCV000446781] Chr16:15418908..16388596 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16247818-16258276)x1 copy number loss See cases [RCV000446786] Chr16:16247818..16258276 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16292181)x3 copy number gain See cases [RCV000447647] Chr16:15489920..16292181 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3871G>A (p.Ala1291Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253411]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499072]|Pseudoxanthoma elasticum, forme fruste [RCV002253410]|not provided [RCV000962389]|not specified [RCV000420584] Chr16:16157674 [GRCh38]
Chr16:16251531 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.396A>G (p.Ser132=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002488904]|not provided [RCV000585316]|not specified [RCV000420678] Chr16:16219632 [GRCh38]
Chr16:16313489 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.336C>A (p.Leu112=) single nucleotide variant not specified [RCV000423619] Chr16:16219831 [GRCh38]
Chr16:16313688 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) single nucleotide variant not provided [RCV000727421]|not specified [RCV000427216] Chr16:16198096 [GRCh38]
Chr16:16291953 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.1077A>C (p.Ser359=) single nucleotide variant not specified [RCV000444897] Chr16:16202100 [GRCh38]
Chr16:16295957 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2018T>C (p.Leu673Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499274]|not provided [RCV000444456] Chr16:16182856 [GRCh38]
Chr16:16276713 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:14906734-16498084)x1 copy number loss See cases [RCV000445845] Chr16:14906734..16498084 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1112T>C (p.Met371Thr) single nucleotide variant not provided [RCV000418197] Chr16:16202065 [GRCh38]
Chr16:16295922 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14928345-16294403)x3 copy number gain See cases [RCV000445858] Chr16:14928345..16294403 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15489920-16327171)x3 copy number gain See cases [RCV000445864] Chr16:15489920..16327171 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3557C>A (p.Ala1186Asp) single nucleotide variant not provided [RCV000428155] Chr16:16161514 [GRCh38]
Chr16:16255371 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.855C>T (p.Thr285=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499337]|not provided [RCV001704484] Chr16:16203553 [GRCh38]
Chr16:16297410 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign
NM_001171.6(ABCC6):c.2420G>A (p.Arg807Gln) single nucleotide variant ABCC6-related condition [RCV003401419]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499152]|not provided [RCV000418691] Chr16:16177622 [GRCh38]
Chr16:16271479 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1077A>G (p.Ser359=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253418]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499254]|Pseudoxanthoma elasticum, forme fruste [RCV002253417]|not provided [RCV000974027]|not specified [RCV000428599] Chr16:16202100 [GRCh38]
Chr16:16295957 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.4042-29G>A single nucleotide variant not provided [RCV001720081] Chr16:16154823 [GRCh38]
Chr16:16248680 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.841A>G (p.Lys281Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499224]|not provided [RCV000425196] Chr16:16203567 [GRCh38]
Chr16:16297424 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|uncertain significance
NM_001171.6(ABCC6):c.3739C>T (p.Pro1247Ser) single nucleotide variant not provided [RCV000432182] Chr16:16157806 [GRCh38]
Chr16:16251663 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1675G>T (p.Glu559Ter) single nucleotide variant not provided [RCV000424143] Chr16:16188935 [GRCh38]
Chr16:16282792 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16245334-16259284)x1 copy number loss See cases [RCV000445746] Chr16:16245334..16259284 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.754C>T (p.Leu252Phe) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499344]|not specified [RCV000419346] Chr16:16208768 [GRCh38]
Chr16:16302625 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|uncertain significance
NM_001171.6(ABCC6):c.3415G>A (p.Ala1139Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499199]|not provided [RCV000426908] Chr16:16163084 [GRCh38]
Chr16:16256941 [GRCh37]
Chr16:16p13.11		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.1815C>T (p.Leu605=) single nucleotide variant ABCC6-related condition [RCV003959885]|Arterial calcification, generalized, of infancy, 2 [RCV002253427]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253425]|Pseudoxanthoma elasticum, forme fruste [RCV002253426]|not provided [RCV000904794]|not specified [RCV000443729] Chr16:16187176 [GRCh38]
Chr16:16281033 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.3735+18G>A single nucleotide variant not provided [RCV003766417]|not specified [RCV000443838] Chr16:16159464 [GRCh38]
Chr16:16253321 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2904G>A (p.Leu968=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253403]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499097]|Pseudoxanthoma elasticum, forme fruste [RCV002253402]|not provided [RCV000886260]|not specified [RCV000436842] Chr16:16169737 [GRCh38]
Chr16:16263594 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign
NM_001171.6(ABCC6):c.2848G>A (p.Ala950Thr) single nucleotide variant ABCC6-related condition [RCV003932597]|Arterial calcification, generalized, of infancy, 2 [RCV002253431]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499095]|Pseudoxanthoma elasticum, forme fruste [RCV002253430]|not provided [RCV000437137] Chr16:16169793 [GRCh38]
Chr16:16263650 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.955A>G (p.Ile319Val) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253446]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499138]|Pseudoxanthoma elasticum, forme fruste [RCV002253445]|not provided [RCV000952745] Chr16:16203453 [GRCh38]
Chr16:16297310 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign
NM_001171.6(ABCC6):c.487G>A (p.Asp163Asn) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253416]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499083]|Pseudoxanthoma elasticum, forme fruste [RCV002253415]|not provided [RCV000892695]|not specified [RCV000437196] Chr16:16214437 [GRCh38]
Chr16:16308294 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1799G>C (p.Arg600Pro) single nucleotide variant not provided [RCV000438644] Chr16:16187192 [GRCh38]
Chr16:16281049 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1248C>T (p.Asp416=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253414]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253412]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002502492]|Pseudoxanthoma elasticum, forme fruste [RCV002253413]|not provided [RCV000957420]|not specified [RCV000441075] Chr16:16198111 [GRCh38]
Chr16:16291968 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.11(chr16:16247470-16258276)x1 copy number loss See cases [RCV000448010] Chr16:16247470..16258276 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:16300012-16315139)x3 copy number gain See cases [RCV000448995] Chr16:16300012..16315139 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18191725)x3 copy number gain See cases [RCV000448998] Chr16:15193982..18191725 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14888582-16855348)x3 copy number gain See cases [RCV000448024] Chr16:14888582..16855348 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16248154-16258276)x1 copy number loss See cases [RCV000448922] Chr16:16248154..16258276 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15539023-16291541) copy number gain Abnormal esophagus morphology [RCV000416782] Chr16:15539023..16291541 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16855477)x3 copy number gain See cases [RCV000448548] Chr16:14866283..16855477 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14985615-17000304) copy number gain Abnormal esophagus morphology [RCV000416828] Chr16:14985615..17000304 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897243-16527476)x3 copy number gain See cases [RCV000447712] Chr16:14897243..16527476 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15420069-16388596)x1 copy number loss See cases [RCV000447918] Chr16:15420069..16388596 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391910)x3 copy number gain See cases [RCV000447927] Chr16:15449696..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_15180601)_(18778866_?)dup duplication Schizophrenia [RCV000416672] Chr16:15180601..18778866 [GRCh37]
Chr16:15088102..18686367 [NCBI36]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533107)x3 copy number gain See cases [RCV000448293] Chr16:14892880..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15318653)_(16292712_?)dup duplication Schizophrenia [RCV000416779] Chr16:15318653..16292712 [GRCh38]
Chr16:15412510..16386569 [GRCh37]
Chr16:15320011..16294070 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481747-16390970)x3 copy number gain See cases [RCV000448300] Chr16:15481747..16390970 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15481920-16388244)x1 copy number loss See cases [RCV000448658] Chr16:15481920..16388244 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000448849] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15031901)_(16512853_?)dup duplication Schizophrenia [RCV000416863] Chr16:15031901..16512853 [GRCh38]
Chr16:15125758..16606710 [GRCh37]
Chr16:15033259..16514211 [NCBI36]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054174-16327476)x3 copy number gain See cases [RCV000447738] Chr16:15054174..16327476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NC_000016.10:g.(?_15330513)_(16443434_?)del deletion Schizophrenia [RCV000416922] Chr16:15330513..16443434 [GRCh38]
Chr16:15424370..16537291 [GRCh37]
Chr16:15331871..16444792 [NCBI36]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:14866283-16858476)x3 copy number gain See cases [RCV000448589] Chr16:14866283..16858476 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14905705-16391045)x1 copy number loss See cases [RCV000447968] Chr16:14905705..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15494600-16327171)x1 copy number loss See cases [RCV000448453] Chr16:15494600..16327171 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900182-16519932)x3 copy number gain See cases [RCV000448468] Chr16:14900182..16519932 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3941G>A (p.Arg1314Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499038]|not provided [RCV001383425]|not specified [RCV000454613] Chr16:16154973 [GRCh38]
Chr16:16248830 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000991178]|not provided [RCV000483030] Chr16:16178854 [GRCh38]
Chr16:16272711 [GRCh37]
Chr16:16p13.11		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.4081G>A (p.Asp1361Asn) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499266]|not provided [RCV000483462] Chr16:16154755 [GRCh38]
Chr16:16248612 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.2782G>A (p.Gly928Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481534]|not provided [RCV000481724] Chr16:16173289 [GRCh38]
Chr16:16267146 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1094T>C (p.Leu365Pro) single nucleotide variant not provided [RCV000486056] Chr16:16202083 [GRCh38]
Chr16:16295940 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3143_3145del (p.Phe1048del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499108]|not provided [RCV000479297] Chr16:16165784..16165786 [GRCh38]
Chr16:16259641..16259643 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.196dup (p.Ser66fs) duplication ABCC6-related condition [RCV003902724]|not provided [RCV000486589] Chr16:16221671..16221672 [GRCh38]
Chr16:16315528..16315529 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x1 copy number loss See cases [RCV000510365] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4253G>A (p.Arg1418Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499009]|not provided [RCV000658742] Chr16:16150728 [GRCh38]
Chr16:16244585 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499010]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496916]|not provided [RCV001782996] Chr16:16202086 [GRCh38]
Chr16:16295943 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1498A>C (p.Thr500Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499011] Chr16:16190301 [GRCh38]
Chr16:16284158 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2248-2_2248-1del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499012]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496930]|Pseudoxanthoma elasticum, forme fruste [RCV001251157] Chr16:16178966..16178967 [GRCh38]
Chr16:16272823..16272824 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3715T>C (p.Tyr1239His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499013] Chr16:16159502 [GRCh38]
Chr16:16253359 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1491C>A (p.Asn497Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499014]|not provided [RCV001865578] Chr16:16190308 [GRCh38]
Chr16:16284165 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3919T>C (p.Ser1307Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499015] Chr16:16154995 [GRCh38]
Chr16:16248852 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1133A>C (p.Gln378Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499016] Chr16:16202044 [GRCh38]
Chr16:16295901 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253479]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499017]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496923]|Pseudoxanthoma elasticum, forme fruste [RCV002253478]|not provided [RCV001520633]|not specified [RCV000611745] Chr16:16169805 [GRCh38]
Chr16:16263662 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) deletion Abnormality of the eye [RCV000504780]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499018]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506213]|not provided [RCV001857050] Chr16:16154732 [GRCh38]
Chr16:16248589 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4209-2A>C single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499019]|not provided [RCV003558411] Chr16:16150774 [GRCh38]
Chr16:16244631 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2153A>G (p.Asp718Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499020] Chr16:16182506 [GRCh38]
Chr16:16276363 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.182G>A (p.Gly61Asp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499021] Chr16:16221686 [GRCh38]
Chr16:16315543 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2855T>G (p.Phe952Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499022] Chr16:16169786 [GRCh38]
Chr16:16263643 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2943G>T (p.Gln981His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499023]|not provided [RCV001865583] Chr16:16169698 [GRCh38]
Chr16:16263555 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.268G>A (p.Ala90Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499024] Chr16:16219899 [GRCh38]
Chr16:16313756 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3362C>T (p.Ser1121Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499025]|not provided [RCV003558408] Chr16:16163137 [GRCh38]
Chr16:16256994 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2030T>C (p.Leu677Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499026] Chr16:16182844 [GRCh38]
Chr16:16276701 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3777G>A (p.Trp1259Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499027] Chr16:16157768 [GRCh38]
Chr16:16251625 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.345+26C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499028] Chr16:16219796 [GRCh38]
Chr16:16313653 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.2342C>T (p.Ala781Val) single nucleotide variant ABCC6-related condition [RCV003983097]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499029]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506211]|not provided [RCV001541119] Chr16:16178871 [GRCh38]
Chr16:16272728 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2419C>G (p.Arg807Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499030] Chr16:16177623 [GRCh38]
Chr16:16271480 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2419C>T (p.Arg807Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499031]|not provided [RCV001851390] Chr16:16177623 [GRCh38]
Chr16:16271480 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3976G>T (p.Asp1326Tyr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499032] Chr16:16154938 [GRCh38]
Chr16:16248795 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2820_2821insC (p.Ala941fs) insertion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499033] Chr16:16169820..16169821 [GRCh38]
Chr16:16263677..16263678 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4198G>A (p.Glu1400Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499034]|not provided [RCV001857051] Chr16:16154638 [GRCh38]
Chr16:16248495 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1635+1G>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499035] Chr16:16190163 [GRCh38]
Chr16:16284020 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3634-3C>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499039]|not provided [RCV002524117] Chr16:16159586 [GRCh38]
Chr16:16253443 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499040]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496925]|not provided [RCV001865582] Chr16:16163158 [GRCh38]
Chr16:16257015 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2911T>C (p.Trp971Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499041] Chr16:16169730 [GRCh38]
Chr16:16263587 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1603T>C (p.Ser535Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499042] Chr16:16190196 [GRCh38]
Chr16:16284053 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3506+15G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499043]|not provided [RCV002527165] Chr16:16162978 [GRCh38]
Chr16:16256835 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|uncertain significance
NM_001171.6(ABCC6):c.3978C>T (p.Asp1326=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499044]|not provided [RCV000908951] Chr16:16154936 [GRCh38]
Chr16:16248793 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|uncertain significance
NM_001171.6(ABCC6):c.1996G>T (p.Gly666Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499045] Chr16:16182878 [GRCh38]
Chr16:16276735 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3816_3828dup (p.Glu1277delinsLysIleProThrTer) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499046] Chr16:16157716..16157717 [GRCh38]
Chr16:16251573..16251574 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.600+23C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499047]|not provided [RCV002285344] Chr16:16214301 [GRCh38]
Chr16:16308158 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.1064T>G (p.Leu355Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499048] Chr16:16202113 [GRCh38]
Chr16:16295970 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.473C>T (p.Ala158Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499049]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496915]|not provided [RCV001672806] Chr16:16219555 [GRCh38]
Chr16:16313412 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign
NM_001171.6(ABCC6):c.3381G>A (p.Met1127Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499050]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496926]|not provided [RCV002524113] Chr16:16163118 [GRCh38]
Chr16:16256975 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.998+2_998+3del deletion ABCC6-related condition [RCV003409690]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499051]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481601] Chr16:16203407..16203408 [GRCh38]
Chr16:16297264..16297265 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2279G>A (p.Arg760Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499052]|not provided [RCV001857054] Chr16:16178934 [GRCh38]
Chr16:16272791 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499053]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481600]|not provided [RCV002524114] Chr16:16159514 [GRCh38]
Chr16:16253371 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1896C>A (p.His632Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549191]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499054]|Pseudoxanthoma elasticum, forme fruste [RCV001549192]|not provided [RCV001520634] Chr16:16185006 [GRCh38]
Chr16:16278863 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.37-21_37-12del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499055] Chr16:16221843..16221852 [GRCh38]
Chr16:16315700..16315709 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3124G>A (p.Gly1042Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499056] Chr16:16165805 [GRCh38]
Chr16:16259662 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.11C>A (p.Pro4His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499058] Chr16:16223424 [GRCh38]
Chr16:16317281 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2177T>C (p.Leu726Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499059] Chr16:16182482 [GRCh38]
Chr16:16276339 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4324G>A (p.Ala1442Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499060] Chr16:16150657 [GRCh38]
Chr16:16244514 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4208+9G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253489]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499061]|Pseudoxanthoma elasticum, forme fruste [RCV002253488]|not provided [RCV001516646]|not specified [RCV001700196] Chr16:16154619 [GRCh38]
Chr16:16248476 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1176+6C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499062] Chr16:16201995 [GRCh38]
Chr16:16295852 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign
NM_001171.6(ABCC6):c.2511C>A (p.Tyr837Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499063] Chr16:16177531 [GRCh38]
Chr16:16271388 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3427C>T (p.Gln1143Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499065] Chr16:16163072 [GRCh38]
Chr16:16256929 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2490C>T (p.Ala830=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253475]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499066]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496921]|Pseudoxanthoma elasticum, forme fruste [RCV002253474]|not provided [RCV001517253] Chr16:16177552 [GRCh38]
Chr16:16271409 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1978del (p.Ala660fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499067] Chr16:16182896 [GRCh38]
Chr16:16276753 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499069]|not provided [RCV001857037] Chr16:16188907 [GRCh38]
Chr16:16282764 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.4335del (p.Ser1446fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499070] Chr16:16150646 [GRCh38]
Chr16:16244503 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1233T>G (p.Asn411Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499071] Chr16:16198126 [GRCh38]
Chr16:16291983 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|uncertain significance
NM_001171.6(ABCC6):c.3307-38_3307-3delinsAGA indel Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499073] Chr16:16163195..16163230 [GRCh38]
Chr16:16257052..16257087 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499074] Chr16:16154910 [GRCh38]
Chr16:16248767 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2170_2173del (p.Arg724fs) microsatellite Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499075] Chr16:16182486..16182489 [GRCh38]
Chr16:16276343..16276346 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.645G>A (p.Thr215=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253461]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499076]|Pseudoxanthoma elasticum, forme fruste [RCV002253460]|not provided [RCV000954750] Chr16:16212202 [GRCh38]
Chr16:16306059 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.3507-1G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499077]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001536007]|not provided [RCV001782998] Chr16:16161565 [GRCh38]
Chr16:16255422 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1465C>T (p.Arg489Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499078]|not provided [RCV002524121] Chr16:16190334 [GRCh38]
Chr16:16284191 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.724G>T (p.Glu242Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499079] Chr16:16208798 [GRCh38]
Chr16:16302655 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499081]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481597]|not provided [RCV001865580] Chr16:16182497 [GRCh38]
Chr16:16276354 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2070+5G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499082]|not provided [RCV003558410] Chr16:16182799 [GRCh38]
Chr16:16276656 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1432-22C>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499084] Chr16:16190389 [GRCh38]
Chr16:16284246 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3722G>A (p.Trp1241Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499086]|not provided [RCV002527163] Chr16:16159495 [GRCh38]
Chr16:16253352 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3413G>C (p.Arg1138Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499087] Chr16:16163086 [GRCh38]
Chr16:16256943 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3735G>A (p.Glu1245=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499089]|not provided [RCV002524115] Chr16:16159482 [GRCh38]
Chr16:16253339 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1944-1G>C single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499090] Chr16:16182931 [GRCh38]
Chr16:16276788 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2252T>A (p.Met751Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499091]|not provided [RCV001857040] Chr16:16178961 [GRCh38]
Chr16:16272818 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4189G>A (p.Asp1397Asn) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499092]|not provided [RCV001857057] Chr16:16154647 [GRCh38]
Chr16:16248504 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3119C>T (p.Pro1040Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499094] Chr16:16165810 [GRCh38]
Chr16:16259667 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2125G>A (p.Glu709Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499096]|not provided [RCV001305379] Chr16:16182534 [GRCh38]
Chr16:16276391 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2387T>C (p.Ile796Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499098]|not provided [RCV001857058] Chr16:16178826 [GRCh38]
Chr16:16272683 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4305C>T (p.Gly1435=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499099] Chr16:16150676 [GRCh38]
Chr16:16244533 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1841T>C (p.Val614Ala) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253465]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499100]|Pseudoxanthoma elasticum, forme fruste [RCV002253464]|not provided [RCV001520636] Chr16:16187150 [GRCh38]
Chr16:16281007 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1460G>A (p.Arg487Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499102]|not provided [RCV003558404] Chr16:16190339 [GRCh38]
Chr16:16284196 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3907G>C (p.Ala1303Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499103]|not provided [RCV001857048] Chr16:16155007 [GRCh38]
Chr16:16248864 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1901C>T (p.Ala634Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499104] Chr16:16185001 [GRCh38]
Chr16:16278858 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1179_1338+2del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499105] Chr16:16198019..16198180 [GRCh38]
Chr16:16291876..16292037 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.595C>T (p.Gln199Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499106] Chr16:16214329 [GRCh38]
Chr16:16308186 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2831C>T (p.Thr944Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499107] Chr16:16169810 [GRCh38]
Chr16:16263667 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499109]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489227]|not provided [RCV001857045] Chr16:16163159 [GRCh38]
Chr16:16257016 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4434del (p.Glu1479fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499110] Chr16:16150211 [GRCh38]
Chr16:16244068 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4182G>A (p.Lys1394=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499111] Chr16:16154654 [GRCh38]
Chr16:16248511 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.865_889del (p.Leu289fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499112] Chr16:16203519..16203543 [GRCh38]
Chr16:16297376..16297400 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3343_3345del (p.Leu1115del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499113] Chr16:16163154..16163156 [GRCh38]
Chr16:16257011..16257013 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1519G>T (p.Glu507Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499114] Chr16:16190280 [GRCh38]
Chr16:16284137 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3608G>A (p.Gly1203Asp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499115] Chr16:16161463 [GRCh38]
Chr16:16255320 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1734_1742delinsG (p.Asn578fs) indel Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499116] Chr16:16188868..16188876 [GRCh38]
Chr16:16282725..16282733 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4041G>C (p.Gln1347His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499117] Chr16:16154873 [GRCh38]
Chr16:16248730 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.191G>A (p.Arg64Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499118]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496931]|not provided [RCV003884569] Chr16:16221677 [GRCh38]
Chr16:16315534 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2323del (p.Leu775fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499119] Chr16:16178890 [GRCh38]
Chr16:16272747 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2631C>A (p.Thr877=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499120] Chr16:16175946 [GRCh38]
Chr16:16269803 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1589T>C (p.Leu530Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499121] Chr16:16190210 [GRCh38]
Chr16:16284067 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2248G>A (p.Gly750Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499122]|not provided [RCV001865576] Chr16:16178965 [GRCh38]
Chr16:16272822 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1563G>C (p.Glu521Asp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499124] Chr16:16190236 [GRCh38]
Chr16:16284093 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2126A>G (p.Glu709Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499125] Chr16:16182533 [GRCh38]
Chr16:16276390 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2814C>G (p.Tyr938Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499126] Chr16:16169827 [GRCh38]
Chr16:16263684 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1505A>T (p.Lys502Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499127] Chr16:16190294 [GRCh38]
Chr16:16284151 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3188T>G (p.Leu1063Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499128]|not provided [RCV001851392] Chr16:16165741 [GRCh38]
Chr16:16259598 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3775_3776insC (p.Trp1259fs) insertion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499129] Chr16:16157769..16157770 [GRCh38]
Chr16:16251626..16251627 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4254del (p.Lys1419fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499130]|not provided [RCV001857059] Chr16:16150727 [GRCh38]
Chr16:16244584 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4501G>A (p.Gly1501Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499131] Chr16:16150144 [GRCh38]
Chr16:16244001 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1388T>A (p.Leu463His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499132]|not provided [RCV002524112] Chr16:16192873 [GRCh38]
Chr16:16286730 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499133]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489228]|not provided [RCV000599457] Chr16:16154654 [GRCh38]
Chr16:16248511 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.105del (p.Val37fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499135] Chr16:16221763 [GRCh38]
Chr16:16315620 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1987G>T (p.Gly663Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499137] Chr16:16182887 [GRCh38]
Chr16:16276744 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2678C>G (p.Ser893Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499139]|not provided [RCV002524122] Chr16:16173393 [GRCh38]
Chr16:16267250 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.118C>T (p.Pro40Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499140] Chr16:16221750 [GRCh38]
Chr16:16315607 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.179_195del (p.Arg60fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499141] Chr16:16221673..16221689 [GRCh38]
Chr16:16315530..16315546 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1318T>G (p.Cys440Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499143]|not provided [RCV001865577] Chr16:16198041 [GRCh38]
Chr16:16291898 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3668G>A (p.Trp1223Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499144]|not provided [RCV003558409] Chr16:16159549 [GRCh38]
Chr16:16253406 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3895G>A (p.Gly1299Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499145] Chr16:16155019 [GRCh38]
Chr16:16248876 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1987G>A (p.Gly663Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499146]|not provided [RCV001865584] Chr16:16182887 [GRCh38]
Chr16:16276744 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253469]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499147]|Pseudoxanthoma elasticum, forme fruste [RCV002253468]|not provided [RCV001516647]|not specified [RCV001701022] Chr16:16182488 [GRCh38]
Chr16:16276345 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.3709C>T (p.Gln1237Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499148] Chr16:16159508 [GRCh38]
Chr16:16253365 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.280del (p.Ile94fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499149] Chr16:16219887 [GRCh38]
Chr16:16313744 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4209C>A (p.Ser1403Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499150] Chr16:16150772 [GRCh38]
Chr16:16244629 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1712_1713del (p.Leu571fs) microsatellite Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499151] Chr16:16188897..16188898 [GRCh38]
Chr16:16282754..16282755 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1141T>C (p.Leu381=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499153]|not provided [RCV001704654] Chr16:16202036 [GRCh38]
Chr16:16295893 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign
NM_001171.6(ABCC6):c.3306+5G>C single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499154] Chr16:16165618 [GRCh38]
Chr16:16259475 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3883-6G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499155]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002490820]|not provided [RCV001383426] Chr16:16155037 [GRCh38]
Chr16:16248894 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.3798del (p.Glu1266fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499157] Chr16:16157747 [GRCh38]
Chr16:16251604 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3953C>G (p.Ala1318Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499159] Chr16:16154961 [GRCh38]
Chr16:16248818 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1652T>C (p.Phe551Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499160]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475991]|not provided [RCV003558405] Chr16:16188958 [GRCh38]
Chr16:16282815 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3507-16T>C single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253487]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499161]|Pseudoxanthoma elasticum, forme fruste [RCV002253486]|not provided [RCV001516254] Chr16:16161580 [GRCh38]
Chr16:16255437 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.662+12C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499163]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475995]|not provided [RCV001356962]|not specified [RCV000613965] Chr16:16212173 [GRCh38]
Chr16:16306030 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign
NM_001171.6(ABCC6):c.3999G>A (p.Val1333=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499164]|not provided [RCV001851393] Chr16:16154915 [GRCh38]
Chr16:16248772 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|uncertain significance
NM_001171.6(ABCC6):c.2293C>T (p.Arg765Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499165]|not provided [RCV001857055] Chr16:16178920 [GRCh38]
Chr16:16272777 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.549G>A (p.Leu183=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499166]|not provided [RCV001597146] Chr16:16214375 [GRCh38]
Chr16:16308232 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|uncertain significance
NM_001171.6(ABCC6):c.373G>T (p.Glu125Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499167] Chr16:16219655 [GRCh38]
Chr16:16313512 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3876_3882+1del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499168] Chr16:16157662..16157669 [GRCh38]
Chr16:16251519..16251526 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2836_2851del (p.Leu946fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499169] Chr16:16169790..16169805 [GRCh38]
Chr16:16263647..16263662 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.654G>T (p.Trp218Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499170] Chr16:16212193 [GRCh38]
Chr16:16306050 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3883-10C>G single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499171] Chr16:16155041 [GRCh38]
Chr16:16248898 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3717T>G (p.Tyr1239Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499172] Chr16:16159500 [GRCh38]
Chr16:16253357 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) single nucleotide variant ABCC6-related condition [RCV003419848]|Arterial calcification, generalized, of infancy, 2 [RCV001198805]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499173] Chr16:16202069 [GRCh38]
Chr16:16295926 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4403+11C>G single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499174]|not provided [RCV002524118] Chr16:16150567 [GRCh38]
Chr16:16244424 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|uncertain significance
NM_001171.6(ABCC6):c.2125G>T (p.Glu709Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499175]|not provided [RCV003558412] Chr16:16182534 [GRCh38]
Chr16:16276391 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3932G>A (p.Gly1311Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499176] Chr16:16154982 [GRCh38]
Chr16:16248839 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3032T>C (p.Leu1011Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499177] Chr16:16165897 [GRCh38]
Chr16:16259754 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2458G>C (p.Ala820Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499178] Chr16:16177584 [GRCh38]
Chr16:16271441 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499179]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481598]|not provided [RCV001731722] Chr16:16157722 [GRCh38]
Chr16:16251579 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2858T>A (p.Leu953His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499181]|not provided [RCV001857044] Chr16:16169783 [GRCh38]
Chr16:16263640 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3787G>A (p.Gly1263Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499182]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506215]|not provided [RCV001857056] Chr16:16157758 [GRCh38]
Chr16:16251615 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.5(ABCC6):c.220_222del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499183] Chr16:16219945..16219947 [GRCh38]
Chr16:16313802..16313804 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.333dup (p.Leu112fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499184] Chr16:16219833..16219834 [GRCh38]
Chr16:16313690..16313691 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3364del (p.Ser1122fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499185] Chr16:16163135 [GRCh38]
Chr16:16256992 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499186]|not provided [RCV000996233] Chr16:16190273 [GRCh38]
Chr16:16284130 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.951C>G (p.Ser317Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499187] Chr16:16203457 [GRCh38]
Chr16:16297314 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2359G>T (p.Val787Phe) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499188] Chr16:16178854 [GRCh38]
Chr16:16272711 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2093A>C (p.Gln698Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499189] Chr16:16182566 [GRCh38]
Chr16:16276423 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253483]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499190]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496929]|Pseudoxanthoma elasticum, forme fruste [RCV002253482]|not provided [RCV000887941]|not specified [RCV001700395] Chr16:16150727 [GRCh38]
Chr16:16244584 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.220-1G>C single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499192] Chr16:16219948 [GRCh38]
Chr16:16313805 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4025T>C (p.Ile1342Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499194]|not provided [RCV002527164] Chr16:16154889 [GRCh38]
Chr16:16248746 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.232G>A (p.Ala78Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499196]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475996]|not provided [RCV003456402] Chr16:16219935 [GRCh38]
Chr16:16313792 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253481]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499197]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489226]|Pseudoxanthoma elasticum, forme fruste [RCV002253480]|not provided [RCV001523288]|not specified [RCV001529995] Chr16:16165739 [GRCh38]
Chr16:16259596 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.2383del (p.Val795fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499200] Chr16:16178830 [GRCh38]
Chr16:16272687 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2263G>A (p.Gly755Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499201]|not provided [RCV001857041] Chr16:16178950 [GRCh38]
Chr16:16272807 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2784C>T (p.Gly928=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499202] Chr16:16173287 [GRCh38]
Chr16:16267144 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1176G>C (p.Lys392Asn) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499204] Chr16:16202001 [GRCh38]
Chr16:16295858 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1780-2A>G single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499206] Chr16:16187213 [GRCh38]
Chr16:16281070 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1519del (p.Glu507fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499207] Chr16:16190280 [GRCh38]
Chr16:16284137 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2542del (p.Met848fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499208]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496922]|not provided [RCV000910604] Chr16:16177500 [GRCh38]
Chr16:16271357 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_001171.6(ABCC6):c.4306_4312del (p.Thr1436fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499209] Chr16:16150669..16150675 [GRCh38]
Chr16:16244526..16244532 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3790C>T (p.Gln1264Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499210] Chr16:16157755 [GRCh38]
Chr16:16251612 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2974G>C (p.Gly992Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499211]|not provided [RCV003558407] Chr16:16169667 [GRCh38]
Chr16:16263524 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2501T>C (p.Met834Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499212]|not provided [RCV002527166] Chr16:16177541 [GRCh38]
Chr16:16271398 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1857dup (p.Ser620fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499213] Chr16:16187133..16187134 [GRCh38]
Chr16:16280990..16280991 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1363G>C (p.Ala455Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499214] Chr16:16192898 [GRCh38]
Chr16:16286755 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3145T>G (p.Ser1049Ala) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499215]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481599]|not provided [RCV001851391] Chr16:16165784 [GRCh38]
Chr16:16259641 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2784_2787del (p.Gly928_Arg929insTer) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499216]|not provided [RCV003114625] Chr16:16173284..16173287 [GRCh38]
Chr16:16267141..16267144 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1964A>G (p.Gln655Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499217] Chr16:16182910 [GRCh38]
Chr16:16276767 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1338+7C>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001548804]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499219]|Pseudoxanthoma elasticum, forme fruste [RCV001548805]|not provided [RCV001519011]|not specified [RCV001700133] Chr16:16198014 [GRCh38]
Chr16:16291871 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253473]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499220]|Pseudoxanthoma elasticum, forme fruste [RCV002253472]|not provided [RCV001514861]|not specified [RCV001700394] Chr16:16182435 [GRCh38]
Chr16:16276292 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1565T>C (p.Leu522Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499221]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475999] Chr16:16190234 [GRCh38]
Chr16:16284091 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2416-1_2416del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499222] Chr16:16177626..16177627 [GRCh38]
Chr16:16271483..16271484 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.951C>A (p.Ser317Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499223] Chr16:16203457 [GRCh38]
Chr16:16297314 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.938dup (p.Thr315fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499225] Chr16:16203469..16203470 [GRCh38]
Chr16:16297326..16297327 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2230A>C (p.Thr744Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499226]|not provided [RCV001755736] Chr16:16182429 [GRCh38]
Chr16:16276286 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4377C>T (p.Arg1459=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499227] Chr16:16150604 [GRCh38]
Chr16:16244461 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2643G>T (p.Arg881Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499228] Chr16:16175934 [GRCh38]
Chr16:16269791 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1244T>C (p.Val415Ala) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499229] Chr16:16198115 [GRCh38]
Chr16:16291972 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4048A>C (p.Ile1350Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499230] Chr16:16154788 [GRCh38]
Chr16:16248645 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3883-24G>A single nucleotide variant ABCC6-related condition [RCV003972821]|Arterial calcification, generalized, of infancy, 2 [RCV002253491]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499231]|Pseudoxanthoma elasticum, forme fruste [RCV002253490]|not provided [RCV001357631] Chr16:16155055 [GRCh38]
Chr16:16248912 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.3877G>A (p.Glu1293Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499232] Chr16:16157668 [GRCh38]
Chr16:16251525 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1199C>T (p.Ser400Phe) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499233]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481595]|not provided [RCV001857038] Chr16:16198160 [GRCh38]
Chr16:16292017 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.601-2A>G single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499234] Chr16:16212248 [GRCh38]
Chr16:16306105 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.346-6G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499235]|not provided [RCV001574017]|not specified [RCV001700195] Chr16:16219688 [GRCh38]
Chr16:16313545 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.3902C>T (p.Thr1301Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499236]|not provided [RCV001857047] Chr16:16155012 [GRCh38]
Chr16:16248869 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1799G>T (p.Arg600Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499237] Chr16:16187192 [GRCh38]
Chr16:16281049 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2432C>T (p.Thr811Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499238]|not provided [RCV001857042] Chr16:16177610 [GRCh38]
Chr16:16271467 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2820T>G (p.Arg940=) single nucleotide variant ABCC6-related condition [RCV003902753]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499239]|not provided [RCV002060089]|not specified [RCV000602555] Chr16:16169821 [GRCh38]
Chr16:16263678 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign
NM_001171.6(ABCC6):c.*17G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253485]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499240]|Pseudoxanthoma elasticum, forme fruste [RCV002253484]|not provided [RCV001637052] Chr16:16150116 [GRCh38]
Chr16:16243973 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.2488G>C (p.Ala830Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499241] Chr16:16177554 [GRCh38]
Chr16:16271411 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4192C>T (p.Arg1398Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499242]|not provided [RCV002524116] Chr16:16154644 [GRCh38]
Chr16:16248501 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1540G>A (p.Val514Ile) single nucleotide variant ABCC6-related condition [RCV003403158]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499243]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496919]|not provided [RCV001475971] Chr16:16190259 [GRCh38]
Chr16:16284116 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.2248-12_2248-11del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499244] Chr16:16178976..16178977 [GRCh38]
Chr16:16272833..16272834 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1967_1989del (p.Gly656fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499245] Chr16:16182885..16182907 [GRCh38]
Chr16:16276742..16276764 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2974G>A (p.Gly992Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499248]|not provided [RCV001865586] Chr16:16169667 [GRCh38]
Chr16:16263524 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.386G>A (p.Gly129Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499249] Chr16:16219642 [GRCh38]
Chr16:16313499 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3506+2_3506+5del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499250]|not provided [RCV001591135] Chr16:16162988..16162991 [GRCh38]
Chr16:16256845..16256848 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2297C>A (p.Ala766Asp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499251] Chr16:16178916 [GRCh38]
Chr16:16272773 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4241G>A (p.Arg1414His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499252]|not provided [RCV002524120] Chr16:16150740 [GRCh38]
Chr16:16244597 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.960del (p.Ser321fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499253] Chr16:16203448 [GRCh38]
Chr16:16297305 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3676C>A (p.Leu1226Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499255] Chr16:16159541 [GRCh38]
Chr16:16253398 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499256]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002490821]|not provided [RCV002524119] Chr16:16188936 [GRCh38]
Chr16:16282793 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.37-1G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499257] Chr16:16221832 [GRCh38]
Chr16:16315689 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1484T>A (p.Leu495His) single nucleotide variant ABCC6-related condition [RCV003419849]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499258]|not provided [RCV002524111] Chr16:16190315 [GRCh38]
Chr16:16284172 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1396A>T (p.Asn466Tyr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499259] Chr16:16192865 [GRCh38]
Chr16:16286722 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3544dup (p.Leu1182fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499260] Chr16:16161526..16161527 [GRCh38]
Chr16:16255383..16255384 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3912del (p.Lys1305fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499261] Chr16:16155002 [GRCh38]
Chr16:16248859 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2835C>T (p.Pro945=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253477]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499262]|Pseudoxanthoma elasticum, forme fruste [RCV002253476]|not provided [RCV001517252] Chr16:16169806 [GRCh38]
Chr16:16263663 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.4341G>A (p.Trp1447Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499263] Chr16:16150640 [GRCh38]
Chr16:16244497 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.766T>C (p.Trp256Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499265] Chr16:16208756 [GRCh38]
Chr16:16302613 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3866_3869dup (p.Ala1291fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499268] Chr16:16157675..16157676 [GRCh38]
Chr16:16251532..16251533 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.113G>C (p.Trp38Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499269]|not provided [RCV001577317] Chr16:16221755 [GRCh38]
Chr16:16315612 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3362C>G (p.Ser1121Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499270] Chr16:16163137 [GRCh38]
Chr16:16256994 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.130C>G (p.Leu44Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499271]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475997] Chr16:16221738 [GRCh38]
Chr16:16315595 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys) single nucleotide variant ABCC6-related condition [RCV003419851]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499272]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475993]|not provided [RCV001558931] Chr16:16159556 [GRCh38]
Chr16:16253413 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2329G>A (p.Asp777Asn) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499273] Chr16:16178884 [GRCh38]
Chr16:16272741 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.26C>A (p.Ala9Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499275] Chr16:16223409 [GRCh38]
Chr16:16317266 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499276]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506210] Chr16:16202090 [GRCh38]
Chr16:16295947 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.795-131_795-3del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499277] Chr16:16203616..16203744 [GRCh38]
Chr16:16297473..16297601 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2432C>G (p.Thr811Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499278] Chr16:16177610 [GRCh38]
Chr16:16271467 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3823_3870del (p.Arg1275_His1290del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499279] Chr16:16157675..16157722 [GRCh38]
Chr16:16251532..16251579 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.676G>A (p.Gly226Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499280] Chr16:16208846 [GRCh38]
Chr16:16302703 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4403+1G>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499281] Chr16:16150577 [GRCh38]
Chr16:16244434 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2258T>C (p.Leu753Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499282]|not provided [RCV001857036] Chr16:16178955 [GRCh38]
Chr16:16272812 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.998+2del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499283] Chr16:16203408 [GRCh38]
Chr16:16297265 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3735G>T (p.Glu1245Asp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499284] Chr16:16159482 [GRCh38]
Chr16:16253339 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2477T>C (p.Leu826Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499287]|not provided [RCV001857043] Chr16:16177565 [GRCh38]
Chr16:16271422 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.708_709dup (p.Trp237fs) microsatellite Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499288] Chr16:16208812..16208813 [GRCh38]
Chr16:16302669..16302670 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3971G>A (p.Trp1324Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499290]|Pseudoxanthoma elasticum, forme fruste [RCV002298628]|not provided [RCV001857049] Chr16:16154943 [GRCh38]
Chr16:16248800 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3188T>C (p.Leu1063Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499291] Chr16:16165741 [GRCh38]
Chr16:16259598 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.36+1G>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499292] Chr16:16223398 [GRCh38]
Chr16:16317255 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2524C>T (p.Gln842Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499293] Chr16:16177518 [GRCh38]
Chr16:16271375 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2891G>C (p.Arg964Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499294]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496924]|not provided [RCV001865581] Chr16:16169750 [GRCh38]
Chr16:16263607 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1798C>T (p.Arg600Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499295]|not provided [RCV001851389] Chr16:16187193 [GRCh38]
Chr16:16281050 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4381C>T (p.Arg1461Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499296]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475998]|not provided [RCV001865585] Chr16:16150600 [GRCh38]
Chr16:16244457 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3380T>C (p.Met1127Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499297] Chr16:16163119 [GRCh38]
Chr16:16256976 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2097G>T (p.Glu699Asp) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001197941]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499298]|not provided [RCV001857039] Chr16:16182562 [GRCh38]
Chr16:16276419 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4271T>C (p.Ile1424Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499299] Chr16:16150710 [GRCh38]
Chr16:16244567 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4016G>T (p.Arg1339Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499300] Chr16:16154898 [GRCh38]
Chr16:16248755 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.713C>A (p.Ser238Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499301] Chr16:16208809 [GRCh38]
Chr16:16302666 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3397G>T (p.Gly1133Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499302] Chr16:16163102 [GRCh38]
Chr16:16256959 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4220_4221insGAAA (p.Gln1408fs) insertion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499303] Chr16:16150760..16150761 [GRCh38]
Chr16:16244617..16244618 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3692_3693insTT (p.Ser1232fs) insertion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499304] Chr16:16159524..16159525 [GRCh38]
Chr16:16253381..16253382 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2175A>T (p.Val725=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253471]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499305]|Pseudoxanthoma elasticum, forme fruste [RCV002253470]|not provided [RCV001514862]|not specified [RCV001701023] Chr16:16182484 [GRCh38]
Chr16:16276341 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1814T>C (p.Leu605Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499306] Chr16:16187177 [GRCh38]
Chr16:16281034 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3883-5G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499308]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506214] Chr16:16155036 [GRCh38]
Chr16:16248893 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4213G>A (p.Gly1405Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499309] Chr16:16150768 [GRCh38]
Chr16:16244625 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1575dup (p.Arg526fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499310] Chr16:16190223..16190224 [GRCh38]
Chr16:16284080..16284081 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1144C>T (p.Arg382Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499311]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496917] Chr16:16202033 [GRCh38]
Chr16:16295890 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3633+1G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499312] Chr16:16161437 [GRCh38]
Chr16:16255294 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499313]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506212]|not provided [RCV001090334] Chr16:16150204 [GRCh38]
Chr16:16244061 [GRCh37]
Chr16:16p13.11		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.1192A>G (p.Ser398Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499314] Chr16:16198167 [GRCh38]
Chr16:16292024 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3475A>G (p.Arg1159Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499315] Chr16:16163024 [GRCh38]
Chr16:16256881 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1194C>G (p.Ser398Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499316] Chr16:16198165 [GRCh38]
Chr16:16292022 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1685T>C (p.Met562Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499317]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481594] Chr16:16188925 [GRCh38]
Chr16:16282782 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4318del (p.Met1440fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499318] Chr16:16150663 [GRCh38]
Chr16:16244520 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4004T>C (p.Leu1335Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499319] Chr16:16154910 [GRCh38]
Chr16:16248767 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2379C>G (p.Asn793Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499320] Chr16:16178834 [GRCh38]
Chr16:16272691 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3106_3108del (p.Phe1036del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499321]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481602]|not provided [RCV001857053] Chr16:16165821..16165823 [GRCh38]
Chr16:16259678..16259680 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3088C>T (p.Arg1030Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499322]|not provided [RCV001591134] Chr16:16165841 [GRCh38]
Chr16:16259698 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3208G>C (p.Ala1070Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499323] Chr16:16165721 [GRCh38]
Chr16:16259578 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.619G>A (p.Gly207Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499324] Chr16:16212228 [GRCh38]
Chr16:16306085 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1890C>G (p.Thr630=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253467]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499325]|Pseudoxanthoma elasticum, forme fruste [RCV002253466]|not provided [RCV001520635] Chr16:16185012 [GRCh38]
Chr16:16278869 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.1892_1943+26del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499328] Chr16:16184933..16185010 [GRCh38]
Chr16:16278790..16278867 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3168C>A (p.Asp1056Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499329] Chr16:16165761 [GRCh38]
Chr16:16259618 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4036C>T (p.Pro1346Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499330] Chr16:16154878 [GRCh38]
Chr16:16248735 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2552T>C (p.Leu851Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499332]|not provided [RCV001584205] Chr16:16177490 [GRCh38]
Chr16:16271347 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2247+22T>G single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499333] Chr16:16182390 [GRCh38]
Chr16:16276247 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1245G>A (p.Val415=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253463]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499334]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496918]|Pseudoxanthoma elasticum, forme fruste [RCV002253462]|not provided [RCV001520637] Chr16:16198114 [GRCh38]
Chr16:16291971 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.177_181del (p.Arg60fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499336] Chr16:16221687..16221691 [GRCh38]
Chr16:16315544..16315548 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499338]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475992]|not provided [RCV001782997] Chr16:16178935 [GRCh38]
Chr16:16272792 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2659C>T (p.Arg887Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499339]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002490822]|not provided [RCV001513801] Chr16:16175918 [GRCh38]
Chr16:16269775 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|uncertain significance
NM_001171.6(ABCC6):c.4448C>T (p.Pro1483Leu) single nucleotide variant ABCC6-related condition [RCV003409689]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499340]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002490819]|not provided [RCV001200404] Chr16:16150197 [GRCh38]
Chr16:16244054 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4060G>C (p.Gly1354Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499341] Chr16:16154776 [GRCh38]
Chr16:16248633 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.681C>G (p.Tyr227Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499342] Chr16:16208841 [GRCh38]
Chr16:16302698 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2245C>T (p.Gln749Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499343] Chr16:16182414 [GRCh38]
Chr16:16276271 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.333G>A (p.Trp111Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499345] Chr16:16219834 [GRCh38]
Chr16:16313691 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3207C>A (p.Tyr1069Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499346] Chr16:16165722 [GRCh38]
Chr16:16259579 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.5(ABCC6):c.1944_1965del22 deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499347]|not provided [RCV001857052] Chr16:16182909..16182930 [GRCh38]
Chr16:16276766..16276787 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3370T>C (p.Cys1124Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499348] Chr16:16163129 [GRCh38]
Chr16:16256986 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.61C>T (p.Pro21Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499349] Chr16:16221807 [GRCh38]
Chr16:16315664 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.962del (p.Ser321fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499350] Chr16:16203446 [GRCh38]
Chr16:16297303 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3818G>A (p.Arg1273Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499351] Chr16:16157727 [GRCh38]
Chr16:16251584 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2843T>C (p.Leu948Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499353] Chr16:16169798 [GRCh38]
Chr16:16263655 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1338+20C>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001548802]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499354]|Pseudoxanthoma elasticum, forme fruste [RCV001548803]|not provided [RCV001522447]|not specified [RCV001528303] Chr16:16198001 [GRCh38]
Chr16:16291858 [GRCh37]
Chr16:16p13.11		 pathogenic|benign
NM_001171.6(ABCC6):c.3074T>C (p.Leu1025Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499355] Chr16:16165855 [GRCh38]
Chr16:16259712 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4420A>T (p.Lys1474Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499356] Chr16:16150225 [GRCh38]
Chr16:16244082 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.46C>T (p.Gln16Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499357] Chr16:16221822 [GRCh38]
Chr16:16315679 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1781C>T (p.Ala594Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499358] Chr16:16187210 [GRCh38]
Chr16:16281067 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.600+1G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499359]|not provided [RCV001755735] Chr16:16214323 [GRCh38]
Chr16:16308180 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2306G>A (p.Arg769Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499360]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496932]|not provided [RCV001510973] Chr16:16178907 [GRCh38]
Chr16:16272764 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|uncertain significance
NM_001171.6(ABCC6):c.*38G>A single nucleotide variant ABCC6-related condition [RCV003915358]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499362]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475994] Chr16:16150095 [GRCh38]
Chr16:16243952 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.3880_3882del (p.Lys1294del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499363] Chr16:16157663..16157665 [GRCh38]
Chr16:16251520..16251522 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3723G>C (p.Trp1241Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499364]|not provided [RCV001726197] Chr16:16159494 [GRCh38]
Chr16:16253351 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.2304C>A (p.Tyr768Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499365]|not provided [RCV003558406] Chr16:16178909 [GRCh38]
Chr16:16272766 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.373G>A (p.Glu125Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499366]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002475990] Chr16:16219655 [GRCh38]
Chr16:16313512 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499367]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496927]|not provided [RCV001310321] Chr16:16159555 [GRCh38]
Chr16:16253412 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1258C>G (p.Leu420Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499368]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481596]|not provided [RCV001865579] Chr16:16198101 [GRCh38]
Chr16:16291958 [GRCh37]
Chr16:16p13.11		 pathogenic|benign|uncertain significance
NM_001171.6(ABCC6):c.1990C>T (p.Pro664Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499369]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496920]|not provided [RCV000584977] Chr16:16182884 [GRCh38]
Chr16:16276741 [GRCh37]
Chr16:16p13.11		 pathogenic|likely benign|uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16328840)x3 copy number gain See cases [RCV000510529] Chr16:15449696..16328840 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15507184-18141051)x3 copy number gain not provided [RCV000509488] Chr16:15507184..18141051 [GRCh37]
Chr16:16p13.11-12.3		 not provided
GRCh37/hg19 16p13.11(chr16:14893032-16533107)x3 copy number gain See cases [RCV000510233] Chr16:14893032..16533107 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.5(ABCC6):c.3307-?_3882+?del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499088]   pathogenic|uncertain significance
NM_001171.5(ABCC6):c.144_795-3del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499123] Chr16:16203616..16221724 [GRCh38]
Chr16:16297473..16315581 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3307-1006_3883-1050del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499134] Chr16:16156081..16164198 [GRCh38]
Chr16:16249938..16258055 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NC_000016.9:g.(?_15766250)_(16185056_?)del deletion Pseudoxanthoma elasticum [RCV000499142] Chr16:15766250..16185056 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.5(ABCC6):c.3307-?_3735+?del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499180]   pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1092_1339-1949del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499198] Chr16:16194871..16202085 [GRCh38]
Chr16:16288728..16295942 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.5(ABCC6):c.2237_2238ins10 (p.?) insertion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499203] Chr16:16182421..16182422 [GRCh38]
Chr16:16276278..16276279 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.5(ABCC6):c.2996-?_4208+?del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499205]   pathogenic|uncertain significance
NM_001171.5(ABCC6):c.1868-?_1943+?del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499326]   pathogenic|likely pathogenic
NM_001171.5(ABCC6):c.2996-1724_4209-478del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499352] Chr16:16151250..16167657 [GRCh38]
Chr16:16245107..16261514 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) deletion ABCC6-related condition [RCV003419850]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499162]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001535944]|not provided [RCV002222535] Chr16:16182875 [GRCh38]
Chr16:16276732 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1088_1120del (p.Gln363_Arg373del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499036] Chr16:16202057..16202089 [GRCh38]
Chr16:16295914..16295946 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.179_187del (p.Arg60_Tyr62del) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499101]|not provided [RCV001561269] Chr16:16221681..16221689 [GRCh38]
Chr16:16315538..16315546 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499289]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496928]|not provided [RCV001857046] Chr16:16157770..16157771 [GRCh38]
Chr16:16251627..16251628 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:14866284-16544419)x3 copy number gain See cases [RCV000510618] Chr16:14866284..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_001171.6(ABCC6):c.2591-1G>T single nucleotide variant not provided [RCV000493957] Chr16:16175987 [GRCh38]
Chr16:16269844 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14888582-16544419)x3 copy number gain See cases [RCV000511651] Chr16:14888582..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14896385-16519643)x1 copy number loss See cases [RCV000511661] Chr16:14896385..16519643 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15450289-16544419)x3 copy number gain See cases [RCV000511929] Chr16:15450289..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain See cases [RCV000511683] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18181971)x1 copy number loss See cases [RCV000511758] Chr16:15481920..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15936927-16288889)x1 copy number loss See cases [RCV000511576] Chr16:15936927..16288889 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900182-16533242)x3 copy number gain See cases [RCV000511709] Chr16:14900182..16533242 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14866283-16516109)x3 copy number gain See cases [RCV000511420] Chr16:14866283..16516109 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16330672)x1 copy number loss See cases [RCV000511713] Chr16:14906734..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16529801)x3 copy number gain See cases [RCV000511718] Chr16:14892880..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14888582-16391910)x3 copy number gain See cases [RCV000511990] Chr16:14888582..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000499218]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002496898]|not provided [RCV000492873] Chr16:16198103 [GRCh38]
Chr16:16291960 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:14899630-16458353)x1 copy number loss See cases [RCV000511863] Chr16:14899630..16458353 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2390G>A (p.Gly797Glu) single nucleotide variant not provided [RCV000493144] Chr16:16178823 [GRCh38]
Chr16:16272680 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16391909)x3 copy number gain See cases [RCV000511947] Chr16:15449696..16391909 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897625-16391910)x1 copy number loss See cases [RCV000512040] Chr16:14897625..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss See cases [RCV000510875] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866284-16391910)x3 copy number gain See cases [RCV000511064] Chr16:14866284..16391910 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16319630)x1 copy number loss See cases [RCV000510829] Chr16:15449696..16319630 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15509728-16330672)x1 copy number loss See cases [RCV000510841] Chr16:15509728..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14866283-16529801)x3 copy number gain See cases [RCV000511276] Chr16:14866283..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.11(chr16:14906845-16515901)x1 copy number loss See cases [RCV000510780] Chr16:14906845..16515901 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16514368)x1 copy number loss See cases [RCV000511286] Chr16:15449696..16514368 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892914-16529555)x3 copy number gain See cases [RCV000511004] Chr16:14892914..16529555 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893385-16544419)x3 copy number gain See cases [RCV000510967] Chr16:14893385..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3796G>A (p.Glu1266Lys) single nucleotide variant Inborn genetic diseases [RCV003299406] Chr16:16157749 [GRCh38]
Chr16:16251606 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3292T>C (p.Tyr1098His) single nucleotide variant Inborn genetic diseases [RCV003257548] Chr16:16165637 [GRCh38]
Chr16:16259494 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767578] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15493046-16291983) copy number loss not provided [RCV000767580] Chr16:15493046..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001171.6(ABCC6):c.595C>A (p.Gln199Lys) single nucleotide variant not provided [RCV003313453] Chr16:16214329 [GRCh38]
Chr16:16308186 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3 copy number gain not provided [RCV003312362] Chr16:14819740..16364041 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3691G>A (p.Val1231Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002483558]|not provided [RCV000585230] Chr16:16159526 [GRCh38]
Chr16:16253383 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002483559]|Stroke disorder [RCV002227186]|not provided [RCV000585451] Chr16:16182815 [GRCh38]
Chr16:16276672 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2035G>T (p.Glu679Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV003314461] Chr16:16182839 [GRCh38]
Chr16:16276696 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14900131-16529801)x3 copy number gain See cases [RCV000512246] Chr16:14900131..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14893032-16529801)x3 copy number gain See cases [RCV000512363] Chr16:14893032..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15450289-16508304)x3 copy number gain See cases [RCV000512364] Chr16:15450289..16508304 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15449696-16529876)x3 copy number gain See cases [RCV000512404] Chr16:15449696..16529876 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900072-16544419)x3 copy number gain See cases [RCV000512370] Chr16:14900072..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.(?_15788690)_(16185034_?)del deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000512639] Chr16:15788690..16185034 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15049968-16391910)x1 copy number loss See cases [RCV000512373] Chr16:15049968..16391910 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3802C>T (p.Arg1268Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481652]|not provided [RCV000512845] Chr16:16157743 [GRCh38]
Chr16:16251600 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14897625-16516109)x1 copy number loss See cases [RCV000512560] Chr16:14897625..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15420069-16388244)x1 copy number loss See cases [RCV000512563] Chr16:15420069..16388244 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14901996-16544419)x3 copy number gain See cases [RCV000512570] Chr16:14901996..16544419 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15476223-16458423)x3 copy number gain See cases [RCV000512343] Chr16:15476223..16458423 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.474+13G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002491239]|not specified [RCV000606810] Chr16:16219541 [GRCh38]
Chr16:16313398 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14892880-16544018)x3 copy number gain See cases [RCV000512602] Chr16:14892880..16544018 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.790C>T (p.Arg264Trp) single nucleotide variant ABCC6-related condition [RCV003907982]|not specified [RCV000714807] Chr16:16208732 [GRCh38]
Chr16:16302589 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1 copy number loss not provided [RCV000683767] Chr16:14780543..16855348 [GRCh37]
Chr16:16p13.12-12.3		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1 copy number loss not provided [RCV000683768] Chr16:14780641..16498084 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1 copy number loss not provided [RCV000683772] Chr16:15316618..18181971 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3 copy number gain not provided [RCV000683773] Chr16:15316618..18185466 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1 copy number loss not provided [RCV000683774] Chr16:15318664..18778064 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:15351247-16458408)x1 copy number loss not provided [RCV000683775] Chr16:15351247..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15419480-16494783)x1 copy number loss not provided [RCV000683776] Chr16:15419480..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509406-18181971)x3 copy number gain not provided [RCV000683781] Chr16:15509406..18181971 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16521406)x1 copy number loss not provided [RCV000683769] Chr16:14892880..16521406 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1 copy number loss not provided [RCV000683777] Chr16:15449696..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16309185)x1 copy number loss not provided [RCV000683778] Chr16:15495265..16309185 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15495265-16330672)x1 copy number loss not provided [RCV000683779] Chr16:15495265..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15507898-16294847)x1 copy number loss not provided [RCV000683780] Chr16:15507898..16294847 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16099145-16498084)x0 copy number loss not provided [RCV000683783] Chr16:16099145..16498084 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16458408)x1 copy number loss not provided [RCV000683770] Chr16:14897625..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1 copy number loss not provided [RCV000683771] Chr16:14899676..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16060396-16294705)x3 copy number gain not provided [RCV000683782] Chr16:16060396..16294705 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16295900-16494783)x1 copy number loss not provided [RCV000683784] Chr16:16295900..16494783 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4424G>A (p.Gly1475Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV001002849]|not provided [RCV002549193] Chr16:16150221 [GRCh38]
Chr16:16244078 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001171.6(ABCC6):c.2788-154T>C single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549182]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549183]|Pseudoxanthoma elasticum, forme fruste [RCV001549184]|not provided [RCV001615300] Chr16:16170007 [GRCh38]
Chr16:16263864 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NC_000016.10:g.(?_14780667)_(16415941_?)del deletion Schizophrenia [RCV000754170] Chr16:14780667..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754171] Chr16:15029830..16415941 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754172] Chr16:15030738..16517711 [GRCh38]
Chr16:16p13.11		 pathogenic
Single allele duplication Schizophrenia [RCV000754173] Chr16:15085515..18775195 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754174] Chr16:15279737..18291544 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754175] Chr16:15318125..16294378 [GRCh38]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15328439)_(16443962_?)del deletion Schizophrenia [RCV000754176] Chr16:15328439..16443962 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14759219-16419494)x1 copy number loss not provided [RCV000739062] Chr16:14759219..16419494 [GRCh37]
Chr16:16p13.12-13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14968859-16291983)x1 copy number loss not provided [RCV000739063] Chr16:14968859..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16303388)x1 copy number loss not provided [RCV000739064] Chr16:14968859..16303388 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14968859-16458748)x3 copy number gain not provided [RCV000739065] Chr16:14968859..16458748 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14975292-16306563)x1 copy number loss not provided [RCV000739066] Chr16:14975292..16306563 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15048643-16353166)x1 copy number loss not provided [RCV000739068] Chr16:15048643..16353166 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15051703-16343095)x3 copy number gain not provided [RCV000739069] Chr16:15051703..16343095 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15051703-16356750)x3 copy number gain not provided [RCV000739070] Chr16:15051703..16356750 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele duplication Autism [RCV000754177] Chr16:15375457..16198187 [GRCh38]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16248500-16262572)x1 copy number loss not provided [RCV000739075] Chr16:16248500..16262572 [GRCh37]
Chr16:16p13.11		 benign
NC_000016.10:g.(?_14757009)_(16763184_?)del deletion Autism [RCV000754169] Chr16:14757009..16763184 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
NM_001171.6(ABCC6):c.2959C>A (p.Arg987Ser) single nucleotide variant not provided [RCV001531233] Chr16:16169682 [GRCh38]
Chr16:16263539 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3882+85C>T single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549151]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549152]|Pseudoxanthoma elasticum, forme fruste [RCV001549153]|not provided [RCV001694096] Chr16:16157578 [GRCh38]
Chr16:16251435 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3633+100A>C single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549157]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549158]|Pseudoxanthoma elasticum, forme fruste [RCV001549159]|not provided [RCV001655881] Chr16:16161338 [GRCh38]
Chr16:16255195 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2788-127A>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549163]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549164]|Pseudoxanthoma elasticum, forme fruste [RCV001549181]|not provided [RCV001647422] Chr16:16169980 [GRCh38]
Chr16:16263837 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2666+134del deletion Arterial calcification, generalized, of infancy, 2 [RCV001549188]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549189]|Pseudoxanthoma elasticum, forme fruste [RCV001549190]|not provided [RCV001638159] Chr16:16175777 [GRCh38]
Chr16:16269634 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1780-86G>T single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253899]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253897]|Pseudoxanthoma elasticum, forme fruste [RCV002253898]|not provided [RCV001610115] Chr16:16187297 [GRCh38]
Chr16:16281154 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2025C>A (p.Ala675=) single nucleotide variant not provided [RCV000894846] Chr16:16182849 [GRCh38]
Chr16:16276706 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3459C>T (p.Arg1153=) single nucleotide variant not provided [RCV000895480] Chr16:16163040 [GRCh38]
Chr16:16256897 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1413del (p.Arg473fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV001002850]|not provided [RCV003669174] Chr16:16192848 [GRCh38]
Chr16:16286705 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1284C>T (p.Asn428=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253606]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253604]|Pseudoxanthoma elasticum, forme fruste [RCV002253605]|not provided [RCV000762214]|not specified [RCV001700456] Chr16:16198075 [GRCh38]
Chr16:16291932 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.3506+83A>C single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549160]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549161]|Pseudoxanthoma elasticum, forme fruste [RCV001549162] Chr16:16162910 [GRCh38]
Chr16:16256767 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2068G>A (p.Glu690Lys) single nucleotide variant not provided [RCV003312334] Chr16:16182806 [GRCh38]
Chr16:16276663 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15493046-18157612)x3 copy number gain See cases [RCV000790572] Chr16:15493046..18157612 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15259141-18361376)x3 copy number gain not provided [RCV000751597] Chr16:15259141..18361376 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15469950-18172311)x3 copy number gain not provided [RCV000751599] Chr16:15469950..18172311 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15935612-16363239)x3 copy number gain not provided [RCV000751600] Chr16:15935612..16363239 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:15935612-16649597)x3 copy number gain not provided [RCV000751601] Chr16:15935612..16649597 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:16246164-16261251)x1 copy number loss not provided [RCV000751607] Chr16:16246164..16261251 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16248500-16261251)x1 copy number loss not provided [RCV000751608] Chr16:16248500..16261251 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4425G>A (p.Gly1475=) single nucleotide variant not provided [RCV000901579] Chr16:16150220 [GRCh38]
Chr16:16244077 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2542= (p.Met848=) variation not provided [RCV000947679] Chr16:16177500 [GRCh38]
Chr16:16271357 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2067C>T (p.Ile689=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002503097]|not provided [RCV000973536]|not specified [RCV001701276] Chr16:16182807 [GRCh38]
Chr16:16276664 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.3795C>T (p.Ile1265=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002502654]|not provided [RCV000900442] Chr16:16157750 [GRCh38]
Chr16:16251607 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3422G>A (p.Arg1141Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505302]|not provided [RCV000900457] Chr16:16163077 [GRCh38]
Chr16:16256934 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2590+9T>C single nucleotide variant not provided [RCV000900839] Chr16:16177443 [GRCh38]
Chr16:16271300 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3114G>T (p.Arg1038=) single nucleotide variant not provided [RCV000925929] Chr16:16165815 [GRCh38]
Chr16:16259672 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.109G>T (p.Val37Phe) single nucleotide variant not provided [RCV000942182] Chr16:16221759 [GRCh38]
Chr16:16315616 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3644C>T (p.Thr1215Ile) single nucleotide variant ABCC6-related condition [RCV003960395]|not provided [RCV000921355] Chr16:16159573 [GRCh38]
Chr16:16253430 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3852C>T (p.Gly1284=) single nucleotide variant not provided [RCV000881899] Chr16:16157693 [GRCh38]
Chr16:16251550 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2781C>T (p.Tyr927=) single nucleotide variant ABCC6-related condition [RCV003920557]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002487930]|not provided [RCV000881900]|not specified [RCV001700332] Chr16:16173290 [GRCh38]
Chr16:16267147 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.2695C>T (p.Arg899Cys) single nucleotide variant ABCC6-related condition [RCV003930555]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002487931]|not provided [RCV000881901] Chr16:16173376 [GRCh38]
Chr16:16267233 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1943+10G>C single nucleotide variant not provided [RCV000881902] Chr16:16184949 [GRCh38]
Chr16:16278806 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1417A>C (p.Arg473=) single nucleotide variant not provided [RCV000927014] Chr16:16192844 [GRCh38]
Chr16:16286701 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2058C>T (p.Phe686=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479070]|not provided [RCV000921542] Chr16:16182816 [GRCh38]
Chr16:16276673 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3751C>T (p.Pro1251Ser) single nucleotide variant not provided [RCV000996230] Chr16:16157794 [GRCh38]
Chr16:16251651 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.1431+73C>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001548799]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001548800]|Pseudoxanthoma elasticum, forme fruste [RCV001548801] Chr16:16192757 [GRCh38]
Chr16:16286614 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3732G>A (p.Lys1244=) single nucleotide variant not provided [RCV000996231] Chr16:16159485 [GRCh38]
Chr16:16253342 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2134T>C (p.Cys712Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002481777]|not provided [RCV000996232] Chr16:16182525 [GRCh38]
Chr16:16276382 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1060G>A (p.Val354Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479175]|not provided [RCV000996234] Chr16:16202117 [GRCh38]
Chr16:16295974 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.3943C>T (p.Leu1315Phe) single nucleotide variant Inborn genetic diseases [RCV003266288] Chr16:16154971 [GRCh38]
Chr16:16248828 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15129970-16284116) copy number gain not provided [RCV000767605] Chr16:15129970..16284116 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3 copy number gain not provided [RCV000996425] Chr16:14932264..16484731 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16099145-16295901)x0 copy number loss not provided [RCV001006782] Chr16:16099145..16295901 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125627-16291983) copy number loss not provided [RCV000767695] Chr16:15125627..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16301530) copy number gain not provided [RCV000767574] Chr16:14975292..16301530 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4041G>A (p.Gln1347=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV000786044] Chr16:16154873 [GRCh38]
Chr16:16248730 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15168667-16291983) copy number gain not provided [RCV000767606] Chr16:15168667..16291983 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767763] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:16633361-16688008) copy number gain Aortic valve disease 1 [RCV000770943] Chr16:16633361..16688008 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126709-16292235) copy number gain not provided [RCV000767824] Chr16:15126709..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1059C>T (p.Ala353=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002501487]|not provided [RCV000893827] Chr16:16202118 [GRCh38]
Chr16:16295975 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.1908C>T (p.Phe636=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505354]|not provided [RCV000916430] Chr16:16184994 [GRCh38]
Chr16:16278851 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1779+9G>T single nucleotide variant not provided [RCV000919719] Chr16:16188822 [GRCh38]
Chr16:16282679 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4473C>T (p.Gly1491=) single nucleotide variant not provided [RCV000896148] Chr16:16150172 [GRCh38]
Chr16:16244029 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2400= (p.Gly800=) variation not provided [RCV000947680] Chr16:16178813 [GRCh38]
Chr16:16272670 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2478G>C (p.Leu826=) single nucleotide variant not provided [RCV000909249] Chr16:16177564 [GRCh38]
Chr16:16271421 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14975292-16289532) copy number gain not provided [RCV000767576] Chr16:14975292..16289532 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15125627-16286750) copy number gain not provided [RCV000767577] Chr16:15125627..16286750 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15548310-17988303) copy number loss not provided [RCV000767583] Chr16:15548310..17988303 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_001171.6(ABCC6):c.2017C>T (p.Leu673=) single nucleotide variant not provided [RCV000925610] Chr16:16182857 [GRCh38]
Chr16:16276714 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1944-8G>A single nucleotide variant ABCC6-related condition [RCV003910686]|not provided [RCV000896912] Chr16:16182938 [GRCh38]
Chr16:16276795 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.2121G>C (p.Val707=) single nucleotide variant not provided [RCV000919241] Chr16:16182538 [GRCh38]
Chr16:16276395 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.258C>T (p.Ser86=) single nucleotide variant not provided [RCV000917496] Chr16:16219909 [GRCh38]
Chr16:16313766 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694) copy number gain not provided [RCV000767573] Chr16:14766480..16286694 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15521713-16292235) copy number loss not provided [RCV000767582] Chr16:15521713..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15551302-18306854)x3 copy number gain not provided [RCV000856643] Chr16:15551302..18306854 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.1432-9C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002502764]|not provided [RCV000915434] Chr16:16190376 [GRCh38]
Chr16:16284233 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1 copy number loss not provided [RCV000849321] Chr16:16247252..16258276 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1 copy number loss not provided [RCV000846961] Chr16:16247252..16258276 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16258394)x1 copy number loss not provided [RCV000847891] Chr16:16247252..16258394 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16248154-16262036)x1 copy number loss not provided [RCV000847928] Chr16:16248154..16262036 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1 copy number loss not provided [RCV000848588] Chr16:16247252..16258276 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1955C>T (p.Thr652Met) single nucleotide variant not provided [RCV001090337] Chr16:16182919 [GRCh38]
Chr16:16276776 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:16247818-16262005)x1 copy number loss not provided [RCV000846387] Chr16:16247818..16262005 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16258393-16295900)x1 copy number loss not provided [RCV000847518] Chr16:16258393..16295900 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4042-5G>A single nucleotide variant not provided [RCV000841494] Chr16:16154799 [GRCh38]
Chr16:16248656 [GRCh37]
Chr16:16p13.11		 likely benign
Single allele deletion Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV000844925] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
NM_001171.6(ABCC6):c.1347G>T (p.Gly449=) single nucleotide variant not provided [RCV000981390] Chr16:16192914 [GRCh38]
Chr16:16286771 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2995+6C>T single nucleotide variant not provided [RCV000916019] Chr16:16169640 [GRCh38]
Chr16:16263497 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253617]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253615]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507452]|Pseudoxanthoma elasticum, forme fruste [RCV002253616]|not provided [RCV000839317]|not specified [RCV001701447] Chr16:16165640 [GRCh38]
Chr16:16259497 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1 copy number loss not provided [RCV001006769] Chr16:14770672..16458408 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1 copy number loss not provided [RCV000846137] Chr16:16247252..16258276 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16262036)x1 copy number loss not provided [RCV000849654] Chr16:16247252..16262036 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.(?_15703981)_(16208869_?)del deletion Aortic aneurysm, familial thoracic 4 [RCV001032716] Chr16:15797838..16302726 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16258276)x1 copy number loss not provided [RCV000848030] Chr16:16247252..16258276 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247470-16262036)x1 copy number loss not provided [RCV000849053] Chr16:16247470..16262036 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1 copy number loss not provided [RCV001006768] Chr16:14770672..16388343 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1 copy number loss not provided [RCV001006778] Chr16:15416364..18231275 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_001171.6(ABCC6):c.2787+62T>C single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001549185]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001549186]|Pseudoxanthoma elasticum, forme fruste [RCV001549187]|not provided [RCV001713033] Chr16:16173222 [GRCh38]
Chr16:16267079 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2338del (p.Leu780fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000989540]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479156]|not provided [RCV001858710] Chr16:16178875 [GRCh38]
Chr16:16272732 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1609del (p.Val537fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV000989541]|not provided [RCV002549728] Chr16:16190190 [GRCh38]
Chr16:16284047 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15154115-16276115) copy number loss Rubinstein-Taybi syndrome due to 16p13.3 microdeletion [RCV001249391] Chr16:15154115..16276115 [GRCh37]
Chr16:16p13.11		 not provided
GRCh37/hg19 16p13.11(chr16:16247470-16262036)x1 copy number loss not provided [RCV000845906] Chr16:16247470..16262036 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3 copy number gain not provided [RCV000996424] Chr16:14927709..16367932 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.751C>T (p.Arg251Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505751]|not provided [RCV001172098] Chr16:16208771 [GRCh38]
Chr16:16302628 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.474G>A (p.Ala158=) single nucleotide variant not provided [RCV001172099] Chr16:16219554 [GRCh38]
Chr16:16313411 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.9:g.(?_16263483)_(16292059_?)del deletion not provided [RCV003105612] Chr16:16263483..16292059 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_16259460)_(16292059_?)del deletion not provided [RCV003105613] Chr16:16259460..16292059 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.9:g.(?_16284001)_(16292059_?)dup duplication not provided [RCV003105614] Chr16:16284001..16292059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16253319)_(16292059_?)dup duplication not provided [RCV003105615] Chr16:16253319..16292059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3633+55C>T single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253886]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253884]|Pseudoxanthoma elasticum, forme fruste [RCV002253885]|not provided [RCV001597362] Chr16:16161383 [GRCh38]
Chr16:16255240 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2666+198T>C single nucleotide variant not provided [RCV001651758] Chr16:16175713 [GRCh38]
Chr16:16269570 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3168C>T (p.Asp1056=) single nucleotide variant ABCC6-related condition [RCV003956339]|not provided [RCV001723443] Chr16:16165761 [GRCh38]
Chr16:16259618 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1285G>A (p.Gly429Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495861]|not provided [RCV001531844] Chr16:16198074 [GRCh38]
Chr16:16291931 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.10:g.16223538T>C single nucleotide variant not provided [RCV001621132] Chr16:16223538 [GRCh38]
Chr16:16317395 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3064C>G (p.Gln1022Glu) single nucleotide variant ABCC6-related condition [RCV003960641]|not provided [RCV000952744] Chr16:16165865 [GRCh38]
Chr16:16259722 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1636-10C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495379]|not provided [RCV000889109] Chr16:16188984 [GRCh38]
Chr16:16282841 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.1312G>A (p.Val438Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002501420]|not provided [RCV000885893] Chr16:16198047 [GRCh38]
Chr16:16291904 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3980G>A (p.Gly1327Glu) single nucleotide variant not provided [RCV000955132]|not specified [RCV001724195] Chr16:16154934 [GRCh38]
Chr16:16248791 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1209C>A (p.Ala403=) single nucleotide variant not provided [RCV000933191] Chr16:16198150 [GRCh38]
Chr16:16292007 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3207C>T (p.Tyr1069=) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253721]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253719]|Pseudoxanthoma elasticum, forme fruste [RCV002253720]|not provided [RCV000955210] Chr16:16165722 [GRCh38]
Chr16:16259579 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.2707G>C (p.Glu903Gln) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253670]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253668]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495374]|Pseudoxanthoma elasticum, forme fruste [RCV002253669]|not provided [RCV000888186]|not specified [RCV001701469] Chr16:16173364 [GRCh38]
Chr16:16267221 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.3024G>A (p.Ala1008=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495361]|not provided [RCV000885498] Chr16:16165905 [GRCh38]
Chr16:16259762 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1155C>T (p.Ile385=) single nucleotide variant not provided [RCV000928097] Chr16:16202022 [GRCh38]
Chr16:16295879 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2757A>G (p.Pro919=) single nucleotide variant not provided [RCV000909248] Chr16:16173314 [GRCh38]
Chr16:16267171 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.890G>A (p.Arg297His) single nucleotide variant not provided [RCV000929950] Chr16:16203518 [GRCh38]
Chr16:16297375 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2696G>A (p.Arg899His) single nucleotide variant not provided [RCV000919299] Chr16:16173375 [GRCh38]
Chr16:16267232 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2628C>A (p.Gly876=) single nucleotide variant not provided [RCV000975954] Chr16:16175949 [GRCh38]
Chr16:16269806 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.1569C>T (p.Gly523=) single nucleotide variant not provided [RCV000904068] Chr16:16190230 [GRCh38]
Chr16:16284087 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1586G>A (p.Gly529Asp) single nucleotide variant ABCC6-related condition [RCV003975744]|not provided [RCV000902289] Chr16:16190213 [GRCh38]
Chr16:16284070 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4208+8C>T single nucleotide variant not provided [RCV000908935] Chr16:16154620 [GRCh38]
Chr16:16248477 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15494600-18141051)x1 copy number loss 16p13.11 microdeletion syndrome [RCV001824940]|not provided [RCV001249387] Chr16:15494600..18141051 [GRCh37]
Chr16:16p13.11-12.3		 no classifications from unflagged records|not provided
NM_001171.6(ABCC6):c.1344G>A (p.Leu448=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489331]|not provided [RCV000957380] Chr16:16192917 [GRCh38]
Chr16:16286774 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.345+10C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489249]|not provided [RCV000936005] Chr16:16219812 [GRCh38]
Chr16:16313669 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3883-7C>T single nucleotide variant ABCC6-related condition [RCV003940640]|not provided [RCV000889518] Chr16:16155038 [GRCh38]
Chr16:16248895 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3564G>A (p.Thr1188=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002501461]|not provided [RCV000890584] Chr16:16161507 [GRCh38]
Chr16:16255364 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1224T>C (p.Asp408=) single nucleotide variant not provided [RCV000913968] Chr16:16198135 [GRCh38]
Chr16:16291992 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.993G>T (p.Leu331=) single nucleotide variant not provided [RCV000957381] Chr16:16203415 [GRCh38]
Chr16:16297272 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2946G>A (p.Thr982=) single nucleotide variant not provided [RCV000933737] Chr16:16169695 [GRCh38]
Chr16:16263552 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1783C>T (p.Arg595Trp) single nucleotide variant not provided [RCV000912483] Chr16:16187208 [GRCh38]
Chr16:16281065 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15481748-16330672)x1 copy number loss not provided [RCV002472866] Chr16:15481748..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001171.6(ABCC6):c.1088A>C (p.Gln363Pro) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002476868]|not provided [RCV001565517] Chr16:16202089 [GRCh38]
Chr16:16295946 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15509592-16309165)x3 copy number gain not provided [RCV002472723] Chr16:15509592..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509729-16255865)x3 copy number gain not provided [RCV002472817] Chr16:15509729..16255865 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1 copy number loss not provided [RCV002473940] Chr16:14780544..16330627 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3 copy number gain not provided [RCV002473916] Chr16:14365745..17052798 [GRCh37]
Chr16:16p13.12-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14893566-16330627)x1 copy number loss not provided [RCV001006771] Chr16:14893566..16330627 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897625-16514111)x1 copy number loss not provided [RCV001006772] Chr16:14897625..16514111 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16052972-16330627)x1 copy number loss not provided [RCV001006781] Chr16:16052972..16330627 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3 copy number gain not provided [RCV001006775] Chr16:14900182..16529801 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15481920-16516109)x3 copy number gain not provided [RCV001006780] Chr16:15481920..16516109 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1943+121T>A single nucleotide variant not provided [RCV001688370] Chr16:16184838 [GRCh38]
Chr16:16278695 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3633+90G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253905]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253903]|Pseudoxanthoma elasticum, forme fruste [RCV002253904]|not provided [RCV001621000] Chr16:16161348 [GRCh38]
Chr16:16255205 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1867+86T>C single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253982]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253980]|Pseudoxanthoma elasticum, forme fruste [RCV002253981]|not provided [RCV001716219] Chr16:16187038 [GRCh38]
Chr16:16280895 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1 copy number loss not provided [RCV001006770] Chr16:14780543..16391045 [GRCh37]
Chr16:16p13.12-13.11		 pathogenic
NM_001171.6(ABCC6):c.4042-30C>T single nucleotide variant not provided [RCV001673483] Chr16:16154824 [GRCh38]
Chr16:16248681 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2416-145G>A single nucleotide variant not provided [RCV001716220] Chr16:16177771 [GRCh38]
Chr16:16271628 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1635+48C>T single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253918]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253916]|Pseudoxanthoma elasticum, forme fruste [RCV002253917]|not provided [RCV001638511] Chr16:16190116 [GRCh38]
Chr16:16283973 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.4404-76A>G single nucleotide variant not provided [RCV001608535] Chr16:16150317 [GRCh38]
Chr16:16244174 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3 copy number gain not provided [RCV001006773] Chr16:14900072..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:16259360-16302623)x1 copy number loss not provided [RCV001172104] Chr16:16259360..16302623 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.345+12T>C single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002488460]|not provided [RCV001671115] Chr16:16219810 [GRCh38]
Chr16:16313667 [GRCh37]
Chr16:16p13.11		 benign|likely benign
GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1 copy number loss not provided [RCV001537888] Chr16:15124782..16291779 [GRCh37]
Chr16:16p13.11		 pathogenic
NC_000016.10:g.16223561G>A single nucleotide variant not provided [RCV001641325] Chr16:16223561 [GRCh38]
Chr16:16317418 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3903C>T (p.Thr1301=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002503155]|not provided [RCV001700886] Chr16:16155011 [GRCh38]
Chr16:16248868 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:16248791-16260443) copy number loss Arterial calcification, generalized, of infancy, 2 [RCV001089969] Chr16:16248791..16260443 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1432-41A>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253940]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253938]|Pseudoxanthoma elasticum, forme fruste [RCV002253939]|not provided [RCV001666495] Chr16:16190408 [GRCh38]
Chr16:16284265 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2901G>C (p.Trp967Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002471116]|not provided [RCV001531234] Chr16:16169740 [GRCh38]
Chr16:16263597 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4404-31A>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253924]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253922]|Pseudoxanthoma elasticum, forme fruste [RCV002253923]|not provided [RCV001651682] Chr16:16150272 [GRCh38]
Chr16:16244129 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1339-2A>G single nucleotide variant not provided [RCV001090339] Chr16:16192924 [GRCh38]
Chr16:16286781 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1505A>G (p.Lys502Arg) single nucleotide variant not provided [RCV001090338] Chr16:16190294 [GRCh38]
Chr16:16284151 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3 copy number gain See cases [RCV001194544] Chr16:14975292..16291099 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.856G>A (p.Glu286Lys) single nucleotide variant not provided [RCV001230341] Chr16:16203552 [GRCh38]
Chr16:16297409 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3892G>A (p.Val1298Ile) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001196250]|not provided [RCV001863103] Chr16:16155022 [GRCh38]
Chr16:16248879 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3 copy number gain not provided [RCV001006774] Chr16:14900168..16869135 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NC_000016.10:g.(?_16157663)_(16163192_?)del deletion not provided [RCV001031567] Chr16:16251520..16257049 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2635G>A (p.Ala879Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505670]|not provided [RCV001090335] Chr16:16175942 [GRCh38]
Chr16:16269799 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2836del (p.Leu946fs) deletion Arterial calcification, generalized, of infancy, 2 [RCV001196265] Chr16:16169805 [GRCh38]
Chr16:16263662 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001171.6(ABCC6):c.2900G>A (p.Trp967Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV001254863] Chr16:16169741 [GRCh38]
Chr16:16263598 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16146794-16293305)x3 copy number gain not provided [RCV001259249] Chr16:16146794..16293305 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3 copy number gain not provided [RCV001259250] Chr16:15417030..16544419 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3 copy number gain not provided [RCV001259251] Chr16:15127985..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3 copy number gain not provided [RCV001259253] Chr16:14929038..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-18164698)x3 copy number gain not provided [RCV001259257] Chr16:15481920..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 copy number loss not provided [RCV001259258] Chr16:15375911..18198455 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15481920-16837613)x3 copy number gain not provided [RCV001259259] Chr16:15481920..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic|uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.11(chr16:15048751-16292235) copy number loss Abnormality of the head [RCV001291975] Chr16:15048751..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14899676-16516109) copy number loss Hydrocephalus [RCV002280699] Chr16:14899676..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16533890) copy number gain 16p13.11 microduplication syndrome [RCV002280703] Chr16:14892880..16533890 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3 copy number gain not provided [RCV001259252] Chr16:15058820..16328840 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509824-16328781)x3 copy number gain not provided [RCV001259254] Chr16:15509824..16328781 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3 copy number gain not provided [RCV001259255] Chr16:15193982..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3 copy number gain not provided [RCV001259256] Chr16:15316618..18164698 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.2378A>G (p.Asn793Ser) single nucleotide variant not provided [RCV001310322] Chr16:16178835 [GRCh38]
Chr16:16272692 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1432-48G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001548796]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV001548797]|Pseudoxanthoma elasticum, forme fruste [RCV001548798]|not provided [RCV001528005] Chr16:16190415 [GRCh38]
Chr16:16284272 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.3306+5G>A single nucleotide variant not provided [RCV001297515] Chr16:16165618 [GRCh38]
Chr16:16259475 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3952G>A (p.Ala1318Thr) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001335747] Chr16:16154962 [GRCh38]
Chr16:16248819 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1 copy number loss not provided [RCV001281366] Chr16:14968855..16251122 [GRCh37]
Chr16:16p13.11		 risk factor
NM_001171.6(ABCC6):c.1195G>A (p.Gly399Ser) single nucleotide variant Inborn genetic diseases [RCV002546150]|not provided [RCV001325964] Chr16:16198164 [GRCh38]
Chr16:16292021 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15492317-16292235) copy number gain Autism with high cognitive abilities [RCV001291950] Chr16:15492317..16292235 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3755C>T (p.Thr1252Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002493663]|not provided [RCV001318156] Chr16:16157790 [GRCh38]
Chr16:16251647 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.615_616dup (p.Thr206fs) microsatellite Generalized arterial calcification of infancy 2 [RCV001294081] Chr16:16212230..16212231 [GRCh38]
Chr16:16306087..16306088 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1575G>T (p.Leu525Phe) single nucleotide variant not provided [RCV001309643] Chr16:16190224 [GRCh38]
Chr16:16284081 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3760G>A (p.Ala1254Thr) single nucleotide variant not provided [RCV001370122] Chr16:16157785 [GRCh38]
Chr16:16251642 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1214C>T (p.Ala405Val) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001331786]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002499653] Chr16:16198145 [GRCh38]
Chr16:16292002 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14887031-16308753)x3 copy number gain not provided [RCV001537889] Chr16:14887031..16308753 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1585G>A (p.Gly529Ser) single nucleotide variant not provided [RCV001360606] Chr16:16190214 [GRCh38]
Chr16:16284071 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3895G>C (p.Gly1299Arg) single nucleotide variant not provided [RCV001346317] Chr16:16155019 [GRCh38]
Chr16:16248876 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16243990)_(16276807_?)dup duplication not provided [RCV001364851] Chr16:16243990..16276807 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15758636)_(16292059_?)dup duplication not provided [RCV001351206] Chr16:15758636..16292059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2995+5G>A single nucleotide variant not provided [RCV001302044] Chr16:16169641 [GRCh38]
Chr16:16263498 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2530A>C (p.Lys844Gln) single nucleotide variant ABCC6-related condition [RCV003405536]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486239]|not provided [RCV001316102] Chr16:16177512 [GRCh38]
Chr16:16271369 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2237T>C (p.Ile746Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV001335744]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486340]|Inborn genetic diseases [RCV003355401]|not provided [RCV001337200] Chr16:16182422 [GRCh38]
Chr16:16276279 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3900del (p.Thr1301fs) deletion Generalized arterial calcification of infancy 2 [RCV001335746] Chr16:16155014 [GRCh38]
Chr16:16248871 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4105G>A (p.Glu1369Lys) single nucleotide variant not provided [RCV001327113] Chr16:16154731 [GRCh38]
Chr16:16248588 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3778C>G (p.Pro1260Ala) single nucleotide variant not provided [RCV001319522] Chr16:16157767 [GRCh38]
Chr16:16251624 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2452C>T (p.Pro818Ser) single nucleotide variant not provided [RCV001298802] Chr16:16177590 [GRCh38]
Chr16:16271447 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2602G>A (p.Gly868Arg) single nucleotide variant ABCC6-related condition [RCV003963233]|not provided [RCV001345615] Chr16:16175975 [GRCh38]
Chr16:16269832 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2071-1G>A single nucleotide variant not provided [RCV003027912] Chr16:16182589 [GRCh38]
Chr16:16276446 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2396G>T (p.Gly799Val) single nucleotide variant not provided [RCV001365358] Chr16:16178817 [GRCh38]
Chr16:16272674 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1249G>A (p.Val417Met) single nucleotide variant not provided [RCV001355474] Chr16:16198110 [GRCh38]
Chr16:16291967 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3 copy number gain Intellectual disability [RCV001293648] Chr16:15126890..16293190 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.469G>A (p.Gly157Arg) single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV001335748]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486341] Chr16:16219559 [GRCh38]
Chr16:16313416 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16248465)_(16259810_?)del deletion not provided [RCV001380548] Chr16:16248465..16259810 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16248464-16259810) copy number loss Autosomal recessive inherited pseudoxanthoma elasticum [RCV001536040] Chr16:16248464..16259810 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.346-7C>T single nucleotide variant not provided [RCV001531845] Chr16:16219689 [GRCh38]
Chr16:16313546 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1255C>T (p.Arg419Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002510593]|not provided [RCV001378597] Chr16:16198104 [GRCh38]
Chr16:16291961 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4047C>T (p.Pro1349=) single nucleotide variant not provided [RCV001418249] Chr16:16154789 [GRCh38]
Chr16:16248646 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1842C>T (p.Val614=) single nucleotide variant not provided [RCV001410593] Chr16:16187149 [GRCh38]
Chr16:16281006 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2542A>G (p.Met848Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002501814]|not provided [RCV001519009] Chr16:16177500 [GRCh38]
Chr16:16271357 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2400A>G (p.Gly800=) single nucleotide variant not provided [RCV001519010] Chr16:16178813 [GRCh38]
Chr16:16272670 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2259C>G (p.Leu753=) single nucleotide variant not provided [RCV001490554] Chr16:16178954 [GRCh38]
Chr16:16272811 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1963C>A (p.Gln655Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506734]|not provided [RCV001699966] Chr16:16182911 [GRCh38]
Chr16:16276768 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2685T>G (p.Pro895=) single nucleotide variant not provided [RCV001487421] Chr16:16173386 [GRCh38]
Chr16:16267243 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1867+92G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002253935]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002253933]|Pseudoxanthoma elasticum, forme fruste [RCV002253934]|not provided [RCV001654967] Chr16:16187032 [GRCh38]
Chr16:16280889 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.4023G>A (p.Arg1341=) single nucleotide variant not provided [RCV001498288] Chr16:16154891 [GRCh38]
Chr16:16248748 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2248-19G>C single nucleotide variant ABCC6-related condition [RCV003965965]|not provided [RCV001478049] Chr16:16178984 [GRCh38]
Chr16:16272841 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2085C>T (p.Tyr695=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495773]|not provided [RCV001505127] Chr16:16182574 [GRCh38]
Chr16:16276431 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3507-19C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495793]|not provided [RCV001513076] Chr16:16161583 [GRCh38]
Chr16:16255440 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.1368C>T (p.Ile456=) single nucleotide variant ABCC6-related condition [RCV003908724]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002495704]|not provided [RCV001473724] Chr16:16192893 [GRCh38]
Chr16:16286750 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3600C>T (p.Gly1200=) single nucleotide variant not provided [RCV001484531] Chr16:16161471 [GRCh38]
Chr16:16255328 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2034G>A (p.Gly678=) single nucleotide variant not provided [RCV001406642] Chr16:16182840 [GRCh38]
Chr16:16276697 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1353C>T (p.Ser451=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002501838]|not provided [RCV001521580] Chr16:16192908 [GRCh38]
Chr16:16286765 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.3294C>T (p.Tyr1098=) single nucleotide variant not provided [RCV001454404] Chr16:16165635 [GRCh38]
Chr16:16259492 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1058C>T (p.Ala353Val) single nucleotide variant Inborn genetic diseases [RCV003094127]|See cases [RCV002253133] Chr16:16202119 [GRCh38]
Chr16:16295976 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.4308G>A (p.Thr1436=) single nucleotide variant not provided [RCV003108806] Chr16:16150673 [GRCh38]
Chr16:16244530 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.572C>A (p.Pro191His) single nucleotide variant not provided [RCV001726987] Chr16:16214352 [GRCh38]
Chr16:16308209 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1868-57G>A single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002254025]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002254023]|Pseudoxanthoma elasticum, forme fruste [RCV002254024] Chr16:16185091 [GRCh38]
Chr16:16278948 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1120C>G (p.Leu374Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505895]|Inborn genetic diseases [RCV003094126]|See cases [RCV002253127] Chr16:16202057 [GRCh38]
Chr16:16295914 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2237_2238delinsGGTGCAGAGTTTG (p.Ile746fs) indel not provided [RCV001785190] Chr16:16182421..16182422 [GRCh38]
Chr16:16276278..16276279 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.259G>A (p.Val87Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489802]|not provided [RCV001769436] Chr16:16219908 [GRCh38]
Chr16:16313765 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.283C>T (p.Gln95Ter) single nucleotide variant not provided [RCV001785193] Chr16:16219884 [GRCh38]
Chr16:16313741 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1850C>G (p.Ser617Ter) single nucleotide variant not provided [RCV001785192] Chr16:16187141 [GRCh38]
Chr16:16280998 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.4487T>C (p.Leu1496Pro) single nucleotide variant not provided [RCV001773381] Chr16:16150158 [GRCh38]
Chr16:16244015 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15124581-16290348)x3 copy number gain not provided [RCV001795550] Chr16:15124581..16290348 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.990G>A (p.Lys330=) single nucleotide variant not provided [RCV001768612] Chr16:16203418 [GRCh38]
Chr16:16297275 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1799_1805dup (p.Thr603fs) duplication not provided [RCV001781717] Chr16:16187185..16187186 [GRCh38]
Chr16:16281042..16281043 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833) copy number gain Autism [RCV002280692] Chr16:15316618..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725) copy number gain Cardiomyopathy [RCV002280695] Chr16:15316618..18191725 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.890_905del (p.Arg297fs) deletion not provided [RCV001785191] Chr16:16203503..16203518 [GRCh38]
Chr16:16297360..16297375 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.4193G>A (p.Arg1398Gln) single nucleotide variant Inborn genetic diseases [RCV002541285]|not provided [RCV001795516] Chr16:16154643 [GRCh38]
Chr16:16248500 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1501A>T (p.Ile501Phe) single nucleotide variant Pseudoxanthoma elasticum, forme fruste [RCV001809017]|not provided [RCV002542438] Chr16:16190298 [GRCh38]
Chr16:16284155 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2536dup (p.Ala846fs) duplication not provided [RCV001945017] Chr16:16177505..16177506 [GRCh38]
Chr16:16271362..16271363 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.221T>A (p.Val74Glu) single nucleotide variant not provided [RCV001814661] Chr16:16219946 [GRCh38]
Chr16:16313803 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1885A>G (p.Ile629Val) single nucleotide variant not provided [RCV001864097] Chr16:16185017 [GRCh38]
Chr16:16278874 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2415A>G (p.Thr805=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002503372]|not provided [RCV002044691] Chr16:16178798 [GRCh38]
Chr16:16272655 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2921A>T (p.Asp974Val) single nucleotide variant not provided [RCV002024743] Chr16:16169720 [GRCh38]
Chr16:16263577 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1371T>A (p.Ala457=) single nucleotide variant not provided [RCV001896892] Chr16:16192890 [GRCh38]
Chr16:16286747 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2909T>A (p.Leu970Gln) single nucleotide variant not provided [RCV001950573] Chr16:16169732 [GRCh38]
Chr16:16263589 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4130C>T (p.Thr1377Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492341]|not provided [RCV002009255] Chr16:16154706 [GRCh38]
Chr16:16248563 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1990C>A (p.Pro664Thr) single nucleotide variant not provided [RCV001864320] Chr16:16182884 [GRCh38]
Chr16:16276741 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3315T>G (p.Tyr1105Ter) single nucleotide variant not provided [RCV001949612] Chr16:16163184 [GRCh38]
Chr16:16257041 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3686G>A (p.Ser1229Asn) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002489920]|not provided [RCV002044219] Chr16:16159531 [GRCh38]
Chr16:16253388 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1459C>G (p.Arg487Gly) single nucleotide variant not provided [RCV001863581] Chr16:16190340 [GRCh38]
Chr16:16284197 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1361C>A (p.Thr454Asn) single nucleotide variant not provided [RCV001966691] Chr16:16192900 [GRCh38]
Chr16:16286757 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1727T>C (p.Ile576Thr) single nucleotide variant not provided [RCV002001487] Chr16:16188883 [GRCh38]
Chr16:16282740 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2675A>G (p.Lys892Arg) single nucleotide variant Inborn genetic diseases [RCV002556374]|not provided [RCV001928469] Chr16:16173396 [GRCh38]
Chr16:16267253 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1604C>T (p.Ser535Leu) single nucleotide variant not provided [RCV002006961] Chr16:16190195 [GRCh38]
Chr16:16284052 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3625G>A (p.Ala1209Thr) single nucleotide variant not provided [RCV001988530] Chr16:16161446 [GRCh38]
Chr16:16255303 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1868-4G>T single nucleotide variant not provided [RCV002003049] Chr16:16185038 [GRCh38]
Chr16:16278895 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1579A>G (p.Thr527Ala) single nucleotide variant not provided [RCV001970869] Chr16:16190220 [GRCh38]
Chr16:16284077 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs) duplication Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484805]|not provided [RCV001949348] Chr16:16154926..16154927 [GRCh38]
Chr16:16248783..16248784 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.3634-4C>T single nucleotide variant not provided [RCV002043584] Chr16:16159587 [GRCh38]
Chr16:16253444 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2882C>T (p.Ser961Phe) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482563]|not provided [RCV001894772] Chr16:16169759 [GRCh38]
Chr16:16263616 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2290G>T (p.Ala764Ser) single nucleotide variant not provided [RCV001948736] Chr16:16178923 [GRCh38]
Chr16:16272780 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15936927-16328840)x3 copy number gain not provided [RCV001834322] Chr16:15936927..16328840 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3604G>A (p.Val1202Met) single nucleotide variant ABCC6-related condition [RCV003418232]|not provided [RCV001969729] Chr16:16161467 [GRCh38]
Chr16:16255324 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4404-7C>A single nucleotide variant not provided [RCV001911484] Chr16:16150248 [GRCh38]
Chr16:16244105 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2781C>A (p.Tyr927Ter) single nucleotide variant not provided [RCV002002569] Chr16:16173290 [GRCh38]
Chr16:16267147 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3420C>A (p.Phe1140Leu) single nucleotide variant not provided [RCV001912512] Chr16:16163079 [GRCh38]
Chr16:16256936 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3994C>G (p.His1332Asp) single nucleotide variant not provided [RCV002040540] Chr16:16154920 [GRCh38]
Chr16:16248777 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1909G>A (p.Ala637Thr) single nucleotide variant not provided [RCV001912693] Chr16:16184993 [GRCh38]
Chr16:16278850 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4070G>A (p.Arg1357Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506899]|not provided [RCV001872210] Chr16:16154766 [GRCh38]
Chr16:16248623 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3170T>A (p.Val1057Glu) single nucleotide variant not provided [RCV002040787] Chr16:16165759 [GRCh38]
Chr16:16259616 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4063_4080del (p.Ser1355_Leu1360del) deletion not provided [RCV001967440] Chr16:16154756..16154773 [GRCh38]
Chr16:16248613..16248630 [GRCh37]
Chr16:16p13.11		 pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3595G>A (p.Ala1199Thr) single nucleotide variant not provided [RCV002002677] Chr16:16161476 [GRCh38]
Chr16:16255333 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3085G>A (p.Val1029Met) single nucleotide variant not provided [RCV002021025] Chr16:16165844 [GRCh38]
Chr16:16259701 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1 copy number loss not provided [RCV001827596] Chr16:15418575..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3482G>A (p.Ser1161Asn) single nucleotide variant not provided [RCV001965371] Chr16:16163017 [GRCh38]
Chr16:16256874 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1843G>A (p.Val615Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507820]|not provided [RCV002021790] Chr16:16187148 [GRCh38]
Chr16:16281005 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3560C>T (p.Ala1187Val) single nucleotide variant not provided [RCV001871357] Chr16:16161511 [GRCh38]
Chr16:16255368 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1774G>A (p.Val592Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002497856]|not provided [RCV002004793] Chr16:16188836 [GRCh38]
Chr16:16282693 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) single nucleotide variant ABCC6-related condition [RCV003395356]|not provided [RCV002022916] Chr16:16159513 [GRCh38]
Chr16:16253370 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.1438C>G (p.Gln480Glu) single nucleotide variant not provided [RCV001947492] Chr16:16190361 [GRCh38]
Chr16:16284218 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4010C>T (p.Thr1337Ile) single nucleotide variant not provided [RCV002022840] Chr16:16154904 [GRCh38]
Chr16:16248761 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3578G>A (p.Ser1193Asn) single nucleotide variant not provided [RCV002042780] Chr16:16161493 [GRCh38]
Chr16:16255350 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2740G>C (p.Asp914His) single nucleotide variant not provided [RCV001872464] Chr16:16173331 [GRCh38]
Chr16:16267188 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1636-5C>G single nucleotide variant not provided [RCV002044189] Chr16:16188979 [GRCh38]
Chr16:16282836 [GRCh37]
Chr16:16p13.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_001171.6(ABCC6):c.3121A>G (p.Ile1041Val) single nucleotide variant not provided [RCV002044504] Chr16:16165808 [GRCh38]
Chr16:16259665 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4391T>C (p.Met1464Thr) single nucleotide variant not provided [RCV001911308] Chr16:16150590 [GRCh38]
Chr16:16244447 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2294G>T (p.Arg765Leu) single nucleotide variant not provided [RCV002043924] Chr16:16178919 [GRCh38]
Chr16:16272776 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3275T>C (p.Leu1092Pro) single nucleotide variant not provided [RCV001949077] Chr16:16165654 [GRCh38]
Chr16:16259511 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1635+5C>T single nucleotide variant not provided [RCV002024647] Chr16:16190159 [GRCh38]
Chr16:16284016 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3460G>A (p.Val1154Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486538]|not provided [RCV002003825] Chr16:16163039 [GRCh38]
Chr16:16256896 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1735A>G (p.Lys579Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486699]|not provided [RCV002023105] Chr16:16188875 [GRCh38]
Chr16:16282732 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2408A>G (p.Gln803Arg) single nucleotide variant not provided [RCV001913272] Chr16:16178805 [GRCh38]
Chr16:16272662 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2769C>G (p.Asp923Glu) single nucleotide variant Inborn genetic diseases [RCV002548927]|not provided [RCV002024371] Chr16:16173302 [GRCh38]
Chr16:16267159 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3515C>T (p.Ala1172Val) single nucleotide variant not provided [RCV002003927] Chr16:16161556 [GRCh38]
Chr16:16255413 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3883G>C (p.Val1295Leu) single nucleotide variant not provided [RCV001949179] Chr16:16155031 [GRCh38]
Chr16:16248888 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1 copy number loss not provided [RCV001834196] Chr16:15375912..16390970 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2335C>G (p.Pro779Ala) single nucleotide variant not provided [RCV002024352] Chr16:16178878 [GRCh38]
Chr16:16272735 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3883-10C>A single nucleotide variant not provided [RCV001948893] Chr16:16155041 [GRCh38]
Chr16:16248898 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479665]|not provided [RCV002006007] Chr16:16150197 [GRCh38]
Chr16:16244054 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1394T>G (p.Leu465Arg) single nucleotide variant not provided [RCV002022602] Chr16:16192867 [GRCh38]
Chr16:16286724 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1247A>G (p.Asp416Gly) single nucleotide variant not provided [RCV001895124] Chr16:16198112 [GRCh38]
Chr16:16291969 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3977A>G (p.Asp1326Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486723]|not provided [RCV002021190] Chr16:16154937 [GRCh38]
Chr16:16248794 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1570G>A (p.Ala524Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484609]|not provided [RCV001948188] Chr16:16190229 [GRCh38]
Chr16:16284086 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3739C>A (p.Pro1247Thr) single nucleotide variant not provided [RCV001945903] Chr16:16157806 [GRCh38]
Chr16:16251663 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2492T>A (p.Ile831Asn) single nucleotide variant not provided [RCV002041207] Chr16:16177550 [GRCh38]
Chr16:16271407 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2660G>A (p.Arg887His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002497838]|not provided [RCV001985013] Chr16:16175917 [GRCh38]
Chr16:16269774 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2407del (p.Gln803fs) deletion not provided [RCV001893070] Chr16:16178806 [GRCh38]
Chr16:16272663 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1314G>A (p.Val438=) single nucleotide variant not provided [RCV002004441] Chr16:16198045 [GRCh38]
Chr16:16291902 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2096A>G (p.Glu699Gly) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484743]|not provided [RCV001982694] Chr16:16182563 [GRCh38]
Chr16:16276420 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3836C>T (p.Pro1279Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486544]|not provided [RCV002006316] Chr16:16157709 [GRCh38]
Chr16:16251566 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1889_1890delinsTG (p.Thr630Met) indel not provided [RCV001986012] Chr16:16185012..16185013 [GRCh38]
Chr16:16278869..16278870 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3617T>C (p.Val1206Ala) single nucleotide variant not provided [RCV001892846] Chr16:16161454 [GRCh38]
Chr16:16255311 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4127A>G (p.Glu1376Gly) single nucleotide variant not provided [RCV001912390] Chr16:16154709 [GRCh38]
Chr16:16248566 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16291858)_(16292059_?)del deletion not provided [RCV001947122] Chr16:16291858..16292059 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2889C>A (p.Cys963Ter) single nucleotide variant not provided [RCV001892993] Chr16:16169752 [GRCh38]
Chr16:16263609 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1837G>A (p.Gly613Ser) single nucleotide variant not provided [RCV001926327] Chr16:16187154 [GRCh38]
Chr16:16281011 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1243G>A (p.Val415Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492383]|not provided [RCV002041014] Chr16:16198116 [GRCh38]
Chr16:16291973 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2437G>A (p.Ala813Thr) single nucleotide variant ABCC6-related condition [RCV003418220]|not provided [RCV001946439] Chr16:16177605 [GRCh38]
Chr16:16271462 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3326C>T (p.Ser1109Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479485]|not provided [RCV001967518] Chr16:16163173 [GRCh38]
Chr16:16257030 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1246G>A (p.Asp416Asn) single nucleotide variant not provided [RCV002003602] Chr16:16198113 [GRCh38]
Chr16:16291970 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1981G>T (p.Val661Phe) single nucleotide variant not provided [RCV001891364] Chr16:16182893 [GRCh38]
Chr16:16276750 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1810T>G (p.Phe604Val) single nucleotide variant not provided [RCV002007004] Chr16:16187181 [GRCh38]
Chr16:16281038 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1311C>A (p.Ile437=) single nucleotide variant not provided [RCV002002652] Chr16:16198048 [GRCh38]
Chr16:16291905 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2027T>C (p.Leu676Pro) single nucleotide variant not provided [RCV002041306] Chr16:16182847 [GRCh38]
Chr16:16276704 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3616G>A (p.Val1206Ile) single nucleotide variant not provided [RCV002003016] Chr16:16161455 [GRCh38]
Chr16:16255312 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3295G>A (p.Ala1099Thr) single nucleotide variant not provided [RCV002018092] Chr16:16165634 [GRCh38]
Chr16:16259491 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2926G>A (p.Ala976Thr) single nucleotide variant not provided [RCV002019884] Chr16:16169715 [GRCh38]
Chr16:16263572 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2302T>C (p.Tyr768His) single nucleotide variant not provided [RCV001951744] Chr16:16178911 [GRCh38]
Chr16:16272768 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4294G>A (p.Val1432Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482469]|not provided [RCV001880347] Chr16:16150687 [GRCh38]
Chr16:16244544 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2493C>G (p.Ile831Met) single nucleotide variant not provided [RCV001944470] Chr16:16177549 [GRCh38]
Chr16:16271406 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4210G>A (p.Val1404Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002478233]|not provided [RCV001924530] Chr16:16150771 [GRCh38]
Chr16:16244628 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3191G>A (p.Arg1064Gln) single nucleotide variant Inborn genetic diseases [RCV002552799]|not provided [RCV001886307] Chr16:16165738 [GRCh38]
Chr16:16259595 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3870C>T (p.His1290=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507713]|not provided [RCV001954451] Chr16:16157675 [GRCh38]
Chr16:16251532 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4209-11A>G single nucleotide variant not provided [RCV001957493] Chr16:16150783 [GRCh38]
Chr16:16244640 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4031T>G (p.Ile1344Ser) single nucleotide variant not provided [RCV001939248] Chr16:16154883 [GRCh38]
Chr16:16248740 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4459_4470del (p.Leu1487_Lys1490del) deletion not provided [RCV001941044] Chr16:16150175..16150186 [GRCh38]
Chr16:16244032..16244043 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1780-11G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492212]|not provided [RCV001974190] Chr16:16187222 [GRCh38]
Chr16:16281079 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2916G>A (p.Ala972=) single nucleotide variant not provided [RCV001953294] Chr16:16169725 [GRCh38]
Chr16:16263582 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.1799G>A (p.Arg600His) single nucleotide variant ABCC6-related condition [RCV003408099]|not provided [RCV002031193] Chr16:16187192 [GRCh38]
Chr16:16281049 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3877G>C (p.Glu1293Gln) single nucleotide variant not provided [RCV001962069] Chr16:16157668 [GRCh38]
Chr16:16251525 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2131G>A (p.Val711Met) single nucleotide variant ABCC6-related condition [RCV003418269]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484874]|not provided [RCV001977290] Chr16:16182528 [GRCh38]
Chr16:16276385 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2236_2237insGGTGCAGAGTT (p.Ile746fs) insertion not provided [RCV001956329] Chr16:16182422..16182423 [GRCh38]
Chr16:16276279..16276280 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1261A>G (p.Thr421Ala) single nucleotide variant not provided [RCV002037274] Chr16:16198098 [GRCh38]
Chr16:16291955 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1774G>T (p.Val592Phe) single nucleotide variant not provided [RCV001904920] Chr16:16188836 [GRCh38]
Chr16:16282693 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3853G>A (p.Val1285Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486784]|not provided [RCV002031748] Chr16:16157692 [GRCh38]
Chr16:16251549 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4382G>A (p.Arg1461His) single nucleotide variant ABCC6-related condition [RCV003968666]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002497916]|not provided [RCV001961693] Chr16:16150599 [GRCh38]
Chr16:16244456 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16243990)_(16244649_?)dup duplication not provided [RCV001941089] Chr16:16243990..16244649 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1657G>A (p.Val553Ile) single nucleotide variant not provided [RCV001887144] Chr16:16188953 [GRCh38]
Chr16:16282810 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1784G>A (p.Arg595Gln) single nucleotide variant not provided [RCV001955539] Chr16:16187207 [GRCh38]
Chr16:16281064 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2650G>A (p.Glu884Lys) single nucleotide variant ABCC6-related condition [RCV003911153]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486691]|Inborn genetic diseases [RCV003269094]|not provided [RCV002014247] Chr16:16175927 [GRCh38]
Chr16:16269784 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4417G>A (p.Asp1473Asn) single nucleotide variant not provided [RCV001920438] Chr16:16150228 [GRCh38]
Chr16:16244085 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1570G>T (p.Ala524Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482681]|not provided [RCV001881551] Chr16:16190229 [GRCh38]
Chr16:16284086 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2995+4C>T single nucleotide variant not provided [RCV001916450] Chr16:16169642 [GRCh38]
Chr16:16263499 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1711C>G (p.Leu571Val) single nucleotide variant not provided [RCV001977915] Chr16:16188899 [GRCh38]
Chr16:16282756 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1208C>A (p.Ala403Asp) single nucleotide variant not provided [RCV002016216] Chr16:16198151 [GRCh38]
Chr16:16292008 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3779C>A (p.Pro1260His) single nucleotide variant not provided [RCV002013170] Chr16:16157766 [GRCh38]
Chr16:16251623 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2686G>A (p.Glu896Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002478305]|not provided [RCV001917938] Chr16:16173385 [GRCh38]
Chr16:16267242 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1232_1233delinsGC (p.Asn411Ser) indel Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479778]|not provided [RCV002014326] Chr16:16198126..16198127 [GRCh38]
Chr16:16291983..16291984 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3488C>T (p.Pro1163Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484910]|Inborn genetic diseases [RCV002573511]|not provided [RCV001976837] Chr16:16163011 [GRCh38]
Chr16:16256868 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4240C>T (p.Arg1414Cys) single nucleotide variant not provided [RCV001931374] Chr16:16150741 [GRCh38]
Chr16:16244598 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4208+6G>A single nucleotide variant not provided [RCV002050871] Chr16:16154622 [GRCh38]
Chr16:16248479 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2810C>A (p.Ala937Asp) single nucleotide variant not provided [RCV002013238] Chr16:16169831 [GRCh38]
Chr16:16263688 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3294C>A (p.Tyr1098Ter) single nucleotide variant not provided [RCV001994559] Chr16:16165635 [GRCh38]
Chr16:16259492 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.1879G>A (p.Asp627Asn) single nucleotide variant not provided [RCV001975647] Chr16:16185023 [GRCh38]
Chr16:16278880 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1649T>C (p.Val550Ala) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002498065]|not provided [RCV002027405] Chr16:16188961 [GRCh38]
Chr16:16282818 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3457C>T (p.Arg1153Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506883]|not provided [RCV001869921] Chr16:16163042 [GRCh38]
Chr16:16256899 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2609G>T (p.Ser870Ile) single nucleotide variant not provided [RCV001995835] Chr16:16175968 [GRCh38]
Chr16:16269825 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2409G>C (p.Gln803His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492008]|not provided [RCV001955141] Chr16:16178804 [GRCh38]
Chr16:16272661 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1193G>T (p.Ser398Ile) single nucleotide variant not provided [RCV001995290] Chr16:16198166 [GRCh38]
Chr16:16292023 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2266G>A (p.Gly756Ser) single nucleotide variant not provided [RCV001973514] Chr16:16178947 [GRCh38]
Chr16:16272804 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4380_4381delinsAA (p.Arg1461Ser) indel not provided [RCV001955289] Chr16:16150600..16150601 [GRCh38]
Chr16:16244457..16244458 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2291C>T (p.Ala764Val) single nucleotide variant not provided [RCV001902864] Chr16:16178922 [GRCh38]
Chr16:16272779 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3548T>G (p.Val1183Gly) single nucleotide variant Inborn genetic diseases [RCV002555766]|not provided [RCV001916060] Chr16:16161523 [GRCh38]
Chr16:16255380 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3043C>T (p.Arg1015Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484493]|Inborn genetic diseases [RCV002557688]|not provided [RCV001930719] Chr16:16165886 [GRCh38]
Chr16:16259743 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3506+2T>C single nucleotide variant not provided [RCV002027818] Chr16:16162991 [GRCh38]
Chr16:16256848 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1812C>A (p.Phe604Leu) single nucleotide variant Inborn genetic diseases [RCV002557725]|not provided [RCV001935639] Chr16:16187179 [GRCh38]
Chr16:16281036 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3612C>G (p.Phe1204Leu) single nucleotide variant not provided [RCV002014891] Chr16:16161459 [GRCh38]
Chr16:16255316 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3461T>C (p.Val1154Ala) single nucleotide variant not provided [RCV001977775] Chr16:16163038 [GRCh38]
Chr16:16256895 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3495G>A (p.Leu1165=) single nucleotide variant not provided [RCV002047814] Chr16:16163004 [GRCh38]
Chr16:16256861 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.4153G>A (p.Ala1385Thr) single nucleotide variant not provided [RCV001996100] Chr16:16154683 [GRCh38]
Chr16:16248540 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1675G>A (p.Glu559Lys) single nucleotide variant not provided [RCV001956608] Chr16:16188935 [GRCh38]
Chr16:16282792 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2431A>G (p.Thr811Ala) single nucleotide variant not provided [RCV001904539] Chr16:16177611 [GRCh38]
Chr16:16271468 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2074G>A (p.Ala692Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507782]|not provided [RCV002017609] Chr16:16182585 [GRCh38]
Chr16:16276442 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2897A>G (p.Tyr966Cys) single nucleotide variant not provided [RCV001960263] Chr16:16169744 [GRCh38]
Chr16:16263601 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2717C>G (p.Thr906Arg) single nucleotide variant not provided [RCV001977585] Chr16:16173354 [GRCh38]
Chr16:16267211 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1742A>G (p.Gln581Arg) single nucleotide variant not provided [RCV001938423] Chr16:16188868 [GRCh38]
Chr16:16282725 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3882+5G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479763]|not provided [RCV002017654] Chr16:16157658 [GRCh38]
Chr16:16251515 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2446A>T (p.Ile816Phe) single nucleotide variant not provided [RCV001933823] Chr16:16177596 [GRCh38]
Chr16:16271453 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1780-17G>A single nucleotide variant not provided [RCV001975406] Chr16:16187228 [GRCh38]
Chr16:16281085 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.1943+4C>T single nucleotide variant not provided [RCV001901979] Chr16:16184955 [GRCh38]
Chr16:16278812 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4218G>C (p.Gln1406His) single nucleotide variant not provided [RCV001881357] Chr16:16150763 [GRCh38]
Chr16:16244620 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16243990)_(16292059_?)del deletion not provided [RCV001937119] Chr16:16243990..16292059 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1597T>A (p.Ser533Thr) single nucleotide variant not provided [RCV001958556] Chr16:16190202 [GRCh38]
Chr16:16284059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3149_3160del (p.Lys1050_Asp1053del) deletion not provided [RCV002018908] Chr16:16165769..16165780 [GRCh38]
Chr16:16259626..16259637 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3431C>T (p.Ala1144Val) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484830]|not provided [RCV001975469] Chr16:16163068 [GRCh38]
Chr16:16256925 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1866C>T (p.Ser622=) single nucleotide variant not provided [RCV001954588] Chr16:16187125 [GRCh38]
Chr16:16280982 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1944-9C>T single nucleotide variant not provided [RCV001880661] Chr16:16182939 [GRCh38]
Chr16:16276796 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.3997G>A (p.Val1333Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484772]|not provided [RCV001997139] Chr16:16154917 [GRCh38]
Chr16:16248774 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1264G>A (p.Glu422Lys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482578]|not provided [RCV001899531] Chr16:16198095 [GRCh38]
Chr16:16291952 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2131G>C (p.Val711Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484700]|not provided [RCV001958106] Chr16:16182528 [GRCh38]
Chr16:16276385 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1617C>A (p.Phe539Leu) single nucleotide variant not provided [RCV001905404] Chr16:16190182 [GRCh38]
Chr16:16284039 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3586C>G (p.His1196Asp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479408]|not provided [RCV001935651] Chr16:16161485 [GRCh38]
Chr16:16255342 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4140C>T (p.Leu1380=) single nucleotide variant not provided [RCV001997929] Chr16:16154696 [GRCh38]
Chr16:16248553 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2261C>G (p.Ser754Cys) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482642]|not provided [RCV001897231] Chr16:16178952 [GRCh38]
Chr16:16272809 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4403G>A (p.Arg1468Gln) single nucleotide variant not provided [RCV001997353] Chr16:16150578 [GRCh38]
Chr16:16244435 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1324G>A (p.Val442Ile) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486552]|not provided [RCV001980354] Chr16:16198035 [GRCh38]
Chr16:16291892 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2343G>A (p.Ala781=) single nucleotide variant not provided [RCV001886052] Chr16:16178870 [GRCh38]
Chr16:16272727 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp) single nucleotide variant ABCC6-related condition [RCV003401969]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484801]|not provided [RCV001951205] Chr16:16155027 [GRCh38]
Chr16:16248884 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.4387G>A (p.Val1463Met) single nucleotide variant not provided [RCV001973660] Chr16:16150594 [GRCh38]
Chr16:16244451 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482474]|not provided [RCV001870135] Chr16:16182519 [GRCh38]
Chr16:16276376 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2863C>A (p.Leu955Ile) single nucleotide variant not provided [RCV001996252] Chr16:16169778 [GRCh38]
Chr16:16263635 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2006A>G (p.Lys669Arg) single nucleotide variant not provided [RCV002019792] Chr16:16182868 [GRCh38]
Chr16:16276725 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1501A>G (p.Ile501Val) single nucleotide variant not provided [RCV001952694] Chr16:16190298 [GRCh38]
Chr16:16284155 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2922C>A (p.Asp974Glu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479745]|not provided [RCV002047810] Chr16:16169719 [GRCh38]
Chr16:16263576 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2119G>A (p.Val707Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002478348]|not provided [RCV001937670] Chr16:16182540 [GRCh38]
Chr16:16276397 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1660C>A (p.His554Asn) single nucleotide variant not provided [RCV001923724] Chr16:16188950 [GRCh38]
Chr16:16282807 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3524T>C (p.Val1175Ala) single nucleotide variant Inborn genetic diseases [RCV002562066]|not provided [RCV001960167] Chr16:16161547 [GRCh38]
Chr16:16255404 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.1636-3C>T single nucleotide variant not provided [RCV001996351] Chr16:16188977 [GRCh38]
Chr16:16282834 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3735+9C>T single nucleotide variant ABCC6-related condition [RCV003968658]|not provided [RCV002035415] Chr16:16159473 [GRCh38]
Chr16:16253330 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1412A>G (p.Lys471Arg) single nucleotide variant not provided [RCV001974476] Chr16:16192849 [GRCh38]
Chr16:16286706 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2086G>A (p.Val696Met) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002497848]|not provided [RCV001996621] Chr16:16182573 [GRCh38]
Chr16:16276430 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4226T>A (p.Leu1409His) single nucleotide variant not provided [RCV001937813] Chr16:16150755 [GRCh38]
Chr16:16244612 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3113G>A (p.Arg1038Gln) single nucleotide variant not provided [RCV001996439] Chr16:16165816 [GRCh38]
Chr16:16259673 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4403+1G>C single nucleotide variant not provided [RCV001905088] Chr16:16150577 [GRCh38]
Chr16:16244434 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16271289)_(16286799_?)dup duplication not provided [RCV002047700] Chr16:16271289..16286799 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1636-7C>G single nucleotide variant not provided [RCV001981051] Chr16:16188981 [GRCh38]
Chr16:16282838 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.2899T>C (p.Trp967Arg) single nucleotide variant not provided [RCV001938513] Chr16:16169742 [GRCh38]
Chr16:16263599 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1577G>A (p.Arg526Gln) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002503627]|not provided [RCV001924133] Chr16:16190222 [GRCh38]
Chr16:16284079 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2299G>A (p.Val767Ile) single nucleotide variant not provided [RCV001980270] Chr16:16178914 [GRCh38]
Chr16:16272771 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3053G>A (p.Arg1018Lys) single nucleotide variant not provided [RCV001997636] Chr16:16165876 [GRCh38]
Chr16:16259733 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1555G>A (p.Gly519Ser) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507715]|not provided [RCV001961150] Chr16:16190244 [GRCh38]
Chr16:16284101 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3086T>C (p.Val1029Ala) single nucleotide variant not provided [RCV002018732] Chr16:16165843 [GRCh38]
Chr16:16259700 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2599C>T (p.Pro867Ser) single nucleotide variant not provided [RCV001907022] Chr16:16175978 [GRCh38]
Chr16:16269835 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1338+6_1338+7delinsTG indel not provided [RCV002017420] Chr16:16198014..16198015 [GRCh38]
Chr16:16291871..16291872 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2104G>C (p.Val702Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492098]|not provided [RCV001997609] Chr16:16182555 [GRCh38]
Chr16:16276412 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2661C>T (p.Arg887=) single nucleotide variant not provided [RCV002036258] Chr16:16175916 [GRCh38]
Chr16:16269773 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.3979G>A (p.Gly1327Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002506878]|not provided [RCV002046930] Chr16:16154935 [GRCh38]
Chr16:16248792 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_16243990)_(16292059_?)dup duplication not provided [RCV001940053] Chr16:16243990..16292059 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3320T>C (p.Val1107Ala) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002484635]|not provided [RCV001981921] Chr16:16163179 [GRCh38]
Chr16:16257036 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4209C>T (p.Ser1403=) single nucleotide variant not provided [RCV002045997] Chr16:16150772 [GRCh38]
Chr16:16244629 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3497del (p.Val1166fs) deletion not provided [RCV001917581] Chr16:16163002 [GRCh38]
Chr16:16256859 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2738C>T (p.Pro913Leu) single nucleotide variant not provided [RCV002029710] Chr16:16173333 [GRCh38]
Chr16:16267190 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1635+6G>A single nucleotide variant not provided [RCV001902860] Chr16:16190158 [GRCh38]
Chr16:16284015 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4477T>C (p.Phe1493Leu) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507612]|not provided [RCV001971966] Chr16:16150168 [GRCh38]
Chr16:16244025 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2824G>A (p.Val942Met) single nucleotide variant not provided [RCV001900835] Chr16:16169817 [GRCh38]
Chr16:16263674 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1595T>C (p.Phe532Ser) single nucleotide variant not provided [RCV002031610] Chr16:16190204 [GRCh38]
Chr16:16284061 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2317G>T (p.Val773Leu) single nucleotide variant not provided [RCV001974922] Chr16:16178896 [GRCh38]
Chr16:16272753 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1291T>C (p.Trp431Arg) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002492156]|not provided [RCV001956801] Chr16:16198068 [GRCh38]
Chr16:16291925 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4404-2A>C single nucleotide variant not provided [RCV001880404] Chr16:16150243 [GRCh38]
Chr16:16244100 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2698dup (p.Thr900fs) duplication not provided [RCV001951256] Chr16:16173372..16173373 [GRCh38]
Chr16:16267229..16267230 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3770C>A (p.Pro1257His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002479818]|not provided [RCV002046370] Chr16:16157775 [GRCh38]
Chr16:16251632 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4403+6G>T single nucleotide variant not provided [RCV001903009] Chr16:16150572 [GRCh38]
Chr16:16244429 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2101T>C (p.Trp701Arg) single nucleotide variant not provided [RCV001919901] Chr16:16182558 [GRCh38]
Chr16:16276415 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2666G>A (p.Arg889Lys) single nucleotide variant not provided [RCV001897655] Chr16:16175911 [GRCh38]
Chr16:16269768 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2410G>A (p.Gly804Arg) single nucleotide variant not provided [RCV001898667] Chr16:16178803 [GRCh38]
Chr16:16272660 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482743]|Inborn genetic diseases [RCV003303318]|not provided [RCV001898674] Chr16:16163041 [GRCh38]
Chr16:16256898 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NC_000016.9:g.(?_15758636)_(17564653_?)dup duplication Desbuquois dysplasia 1 [RCV001919069]|not provided [RCV003107892] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance|no classifications from unflagged records
NM_001171.6(ABCC6):c.1354G>A (p.Ala452Thr) single nucleotide variant not provided [RCV001955178] Chr16:16192907 [GRCh38]
Chr16:16286764 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3092C>G (p.Ser1031Cys) single nucleotide variant not provided [RCV001995060] Chr16:16165837 [GRCh38]
Chr16:16259694 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1699G>A (p.Ala567Thr) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002482521]|not provided [RCV001902228] Chr16:16188911 [GRCh38]
Chr16:16282768 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1636-16C>T single nucleotide variant not provided [RCV002149320] Chr16:16188990 [GRCh38]
Chr16:16282847 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4017C>T (p.Arg1339=) single nucleotide variant not provided [RCV002207367] Chr16:16154897 [GRCh38]
Chr16:16248754 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1779+20T>C single nucleotide variant not provided [RCV002167978] Chr16:16188811 [GRCh38]
Chr16:16282668 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1943+15C>A single nucleotide variant not provided [RCV002145242] Chr16:16184944 [GRCh38]
Chr16:16278801 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4042-6C>T single nucleotide variant not provided [RCV002110150] Chr16:16154800 [GRCh38]
Chr16:16248657 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4086G>A (p.Leu1362=) single nucleotide variant not provided [RCV002071733] Chr16:16154750 [GRCh38]
Chr16:16248607 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1432-22_1432-19del microsatellite not provided [RCV002125844] Chr16:16190386..16190389 [GRCh38]
Chr16:16284243..16284246 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1593C>T (p.Leu531=) single nucleotide variant not provided [RCV002086421] Chr16:16190206 [GRCh38]
Chr16:16284063 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3307-16C>G single nucleotide variant not provided [RCV002147580] Chr16:16163208 [GRCh38]
Chr16:16257065 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3315T>C (p.Tyr1105=) single nucleotide variant not provided [RCV002105662] Chr16:16163184 [GRCh38]
Chr16:16257041 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.24C>A (p.Cys8Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002226612] Chr16:16223411 [GRCh38]
Chr16:16317268 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3798G>A (p.Glu1266=) single nucleotide variant not provided [RCV002074982] Chr16:16157747 [GRCh38]
Chr16:16251604 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3072C>T (p.Leu1024=) single nucleotide variant not provided [RCV002191354] Chr16:16165857 [GRCh38]
Chr16:16259714 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1491C>T (p.Asn497=) single nucleotide variant not provided [RCV002089425] Chr16:16190308 [GRCh38]
Chr16:16284165 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3414G>C (p.Arg1138=) single nucleotide variant not provided [RCV002208015] Chr16:16163085 [GRCh38]
Chr16:16256942 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4041+18G>A single nucleotide variant not provided [RCV002071565] Chr16:16154855 [GRCh38]
Chr16:16248712 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4476G>C (p.Leu1492=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002494044]|not provided [RCV002167439] Chr16:16150169 [GRCh38]
Chr16:16244026 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1302C>T (p.Leu434=) single nucleotide variant ABCC6-related condition [RCV003958531]|not provided [RCV002187271] Chr16:16198057 [GRCh38]
Chr16:16291914 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2049G>A (p.Val683=) single nucleotide variant not provided [RCV002075143] Chr16:16182825 [GRCh38]
Chr16:16276682 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4209-8G>A single nucleotide variant not provided [RCV002205787] Chr16:16150780 [GRCh38]
Chr16:16244637 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4404-20T>G single nucleotide variant not provided [RCV002130278] Chr16:16150261 [GRCh38]
Chr16:16244118 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3307-6T>C single nucleotide variant not provided [RCV002189129] Chr16:16163198 [GRCh38]
Chr16:16257055 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4404-17C>T single nucleotide variant not provided [RCV002191984] Chr16:16150258 [GRCh38]
Chr16:16244115 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2763A>C (p.Gly921=) single nucleotide variant not provided [RCV002128597] Chr16:16173308 [GRCh38]
Chr16:16267165 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4404-20T>C single nucleotide variant not provided [RCV002125982] Chr16:16150261 [GRCh38]
Chr16:16244118 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1177-17T>C single nucleotide variant not provided [RCV002184918] Chr16:16198199 [GRCh38]
Chr16:16292056 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) single nucleotide variant Pseudoxanthoma elasticum, forme fruste [RCV002227623] Chr16:16154645 [GRCh38]
Chr16:16248502 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2622C>T (p.Pro874=) single nucleotide variant not provided [RCV002187561] Chr16:16175955 [GRCh38]
Chr16:16269812 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4104C>T (p.Asp1368=) single nucleotide variant not provided [RCV002206678] Chr16:16154732 [GRCh38]
Chr16:16248589 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4404-5C>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002494260]|not provided [RCV002105943] Chr16:16150246 [GRCh38]
Chr16:16244103 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3291C>T (p.Leu1097=) single nucleotide variant not provided [RCV002169677] Chr16:16165638 [GRCh38]
Chr16:16259495 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1194C>T (p.Ser398=) single nucleotide variant not provided [RCV002210730] Chr16:16198165 [GRCh38]
Chr16:16292022 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2934T>C (p.Gly978=) single nucleotide variant not provided [RCV002208534] Chr16:16169707 [GRCh38]
Chr16:16263564 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3736-20A>G single nucleotide variant not provided [RCV002197217] Chr16:16157829 [GRCh38]
Chr16:16251686 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1956G>A (p.Thr652=) single nucleotide variant not provided [RCV002193289] Chr16:16182918 [GRCh38]
Chr16:16276775 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2334C>T (p.Asp778=) single nucleotide variant not provided [RCV002132710] Chr16:16178879 [GRCh38]
Chr16:16272736 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4458G>C (p.Leu1486=) single nucleotide variant not provided [RCV002147558] Chr16:16150187 [GRCh38]
Chr16:16244044 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2788-13_2788-12del deletion not provided [RCV002151309] Chr16:16169865..16169866 [GRCh38]
Chr16:16263722..16263723 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2787+8C>T single nucleotide variant not provided [RCV002096248] Chr16:16173276 [GRCh38]
Chr16:16267133 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2397T>C (p.Gly799=) single nucleotide variant not provided [RCV002215418] Chr16:16178816 [GRCh38]
Chr16:16272673 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3507-17G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002508070]|not provided [RCV002094376] Chr16:16161581 [GRCh38]
Chr16:16255438 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3996C>G (p.His1332Gln) single nucleotide variant not provided [RCV002096294] Chr16:16154918 [GRCh38]
Chr16:16248775 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4176G>A (p.Gln1392=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002499992]|not provided [RCV002113156] Chr16:16154660 [GRCh38]
Chr16:16248517 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2982C>T (p.Leu994=) single nucleotide variant ABCC6-related condition [RCV003941267]|not provided [RCV002089683] Chr16:16169659 [GRCh38]
Chr16:16263516 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.3507-14G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002500114]|not provided [RCV002076199] Chr16:16161578 [GRCh38]
Chr16:16255435 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2112C>T (p.Asn704=) single nucleotide variant not provided [RCV002152582] Chr16:16182547 [GRCh38]
Chr16:16276404 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4042-8C>G single nucleotide variant not provided [RCV002153145] Chr16:16154802 [GRCh38]
Chr16:16248659 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1636-10del deletion not provided [RCV002095085] Chr16:16188984 [GRCh38]
Chr16:16282841 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1368C>G (p.Ile456Met) single nucleotide variant not provided [RCV002148433] Chr16:16192893 [GRCh38]
Chr16:16286750 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4164C>G (p.Pro1388=) single nucleotide variant not provided [RCV002093920] Chr16:16154672 [GRCh38]
Chr16:16248529 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2016G>A (p.Leu672=) single nucleotide variant not provided [RCV002075680] Chr16:16182858 [GRCh38]
Chr16:16276715 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1626T>C (p.Ser542=) single nucleotide variant not provided [RCV002092183] Chr16:16190173 [GRCh38]
Chr16:16284030 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3690C>T (p.Ile1230=) single nucleotide variant not provided [RCV002135258] Chr16:16159527 [GRCh38]
Chr16:16253384 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4042-15G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002494334]|not provided [RCV002078981] Chr16:16154809 [GRCh38]
Chr16:16248666 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3279A>T (p.Pro1093=) single nucleotide variant not provided [RCV002135056] Chr16:16165650 [GRCh38]
Chr16:16259507 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3075G>A (p.Leu1025=) single nucleotide variant not provided [RCV002133276] Chr16:16165854 [GRCh38]
Chr16:16259711 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1868-16C>T single nucleotide variant not provided [RCV002172364] Chr16:16185050 [GRCh38]
Chr16:16278907 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2416-6G>A single nucleotide variant not provided [RCV002094753] Chr16:16177632 [GRCh38]
Chr16:16271489 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1177-5G>A single nucleotide variant not provided [RCV002214051] Chr16:16198187 [GRCh38]
Chr16:16292044 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1317C>T (p.Val439=) single nucleotide variant not provided [RCV002186121] Chr16:16198042 [GRCh38]
Chr16:16291899 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1569C>A (p.Gly523=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002498110]|not provided [RCV002166697] Chr16:16190230 [GRCh38]
Chr16:16284087 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2847C>T (p.Tyr949=) single nucleotide variant not provided [RCV002192780] Chr16:16169794 [GRCh38]
Chr16:16263651 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4227C>T (p.Leu1409=) single nucleotide variant not provided [RCV002205203] Chr16:16150754 [GRCh38]
Chr16:16244611 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1275C>G (p.Leu425=) single nucleotide variant not provided [RCV002092709] Chr16:16198084 [GRCh38]
Chr16:16291941 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3882+9T>C single nucleotide variant not provided [RCV002170406] Chr16:16157654 [GRCh38]
Chr16:16251511 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2238T>C (p.Ile746=) single nucleotide variant not provided [RCV002151874] Chr16:16182421 [GRCh38]
Chr16:16276278 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2727T>C (p.Pro909=) single nucleotide variant not provided [RCV002171597] Chr16:16173344 [GRCh38]
Chr16:16267201 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3345G>A (p.Leu1115=) single nucleotide variant not provided [RCV002133248] Chr16:16163154 [GRCh38]
Chr16:16257011 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2591-15C>T single nucleotide variant not provided [RCV002151785] Chr16:16176001 [GRCh38]
Chr16:16269858 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1323C>T (p.Phe441=) single nucleotide variant not provided [RCV002105838] Chr16:16198036 [GRCh38]
Chr16:16291893 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1338+13A>T single nucleotide variant not provided [RCV002146572] Chr16:16198008 [GRCh38]
Chr16:16291865 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1338+7C>A single nucleotide variant not provided [RCV002094378] Chr16:16198014 [GRCh38]
Chr16:16291871 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3307-17C>G single nucleotide variant not provided [RCV002166219] Chr16:16163209 [GRCh38]
Chr16:16257066 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1662C>T (p.His554=) single nucleotide variant not provided [RCV002073616] Chr16:16188948 [GRCh38]
Chr16:16282805 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3003G>A (p.Gly1001=) single nucleotide variant not provided [RCV002077758] Chr16:16165926 [GRCh38]
Chr16:16259783 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4374C>T (p.His1458=) single nucleotide variant not provided [RCV002113162] Chr16:16150607 [GRCh38]
Chr16:16244464 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2666+10C>T single nucleotide variant not provided [RCV002113651] Chr16:16175901 [GRCh38]
Chr16:16269758 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3633+14C>G single nucleotide variant not provided [RCV002079167] Chr16:16161424 [GRCh38]
Chr16:16255281 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3975C>T (p.Ile1325=) single nucleotide variant not provided [RCV002165243] Chr16:16154939 [GRCh38]
Chr16:16248796 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1339-4C>T single nucleotide variant not provided [RCV002077089] Chr16:16192926 [GRCh38]
Chr16:16286783 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1636-20G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002494406]|not provided [RCV002114773] Chr16:16188994 [GRCh38]
Chr16:16282851 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2397T>G (p.Gly799=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486859]|not provided [RCV002075751] Chr16:16178816 [GRCh38]
Chr16:16272673 [GRCh37]
Chr16:16p13.11		 benign|likely benign
NM_001171.6(ABCC6):c.1290G>A (p.Leu430=) single nucleotide variant not provided [RCV002077936] Chr16:16198069 [GRCh38]
Chr16:16291926 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3054G>A (p.Arg1018=) single nucleotide variant not provided [RCV002197161] Chr16:16165875 [GRCh38]
Chr16:16259732 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1339-8A>G single nucleotide variant not provided [RCV002080663] Chr16:16192930 [GRCh38]
Chr16:16286787 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4449G>A (p.Pro1483=) single nucleotide variant not provided [RCV002131816] Chr16:16150196 [GRCh38]
Chr16:16244053 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1636-18G>A single nucleotide variant not provided [RCV002073935] Chr16:16188992 [GRCh38]
Chr16:16282849 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1986C>T (p.Val662=) single nucleotide variant not provided [RCV002210817] Chr16:16182888 [GRCh38]
Chr16:16276745 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3477G>A (p.Arg1159=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002500091]|not provided [RCV002149908] Chr16:16163022 [GRCh38]
Chr16:16256879 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2688G>A (p.Glu896=) single nucleotide variant not provided [RCV002083029] Chr16:16173383 [GRCh38]
Chr16:16267240 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3837G>A (p.Pro1279=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002507883]|not provided [RCV002175324] Chr16:16157708 [GRCh38]
Chr16:16251565 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1234C>T (p.Leu412=) single nucleotide variant not provided [RCV002123349] Chr16:16198125 [GRCh38]
Chr16:16291982 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1361C>T (p.Thr454Ile) single nucleotide variant not provided [RCV002135849] Chr16:16192900 [GRCh38]
Chr16:16286757 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2730G>C (p.Leu910=) single nucleotide variant not provided [RCV002137901] Chr16:16173341 [GRCh38]
Chr16:16267198 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2521C>T (p.Leu841=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002494310]|not provided [RCV002160212] Chr16:16177521 [GRCh38]
Chr16:16271378 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2788-7G>A single nucleotide variant not provided [RCV002198312] Chr16:16169860 [GRCh38]
Chr16:16263717 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3634-15G>A single nucleotide variant not provided [RCV002141537] Chr16:16159598 [GRCh38]
Chr16:16253455 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1338+16A>C single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002494498]|not provided [RCV002156418] Chr16:16198005 [GRCh38]
Chr16:16291862 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3162G>T (p.Thr1054=) single nucleotide variant not provided [RCV002098860] Chr16:16165767 [GRCh38]
Chr16:16259624 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4008C>T (p.His1336=) single nucleotide variant not provided [RCV002176296] Chr16:16154906 [GRCh38]
Chr16:16248763 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3506+20A>C single nucleotide variant not provided [RCV002200919] Chr16:16162973 [GRCh38]
Chr16:16256830 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3891C>T (p.Ile1297=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002499936]|not provided [RCV002103349] Chr16:16155023 [GRCh38]
Chr16:16248880 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4125G>C (p.Leu1375=) single nucleotide variant not provided [RCV002123141] Chr16:16154711 [GRCh38]
Chr16:16248568 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4403+9C>T single nucleotide variant not provided [RCV002181078] Chr16:16150569 [GRCh38]
Chr16:16244426 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2973C>T (p.Phe991=) single nucleotide variant not provided [RCV002181201] Chr16:16169668 [GRCh38]
Chr16:16263525 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3 copy number gain See cases [RCV002246173] Chr16:14886858..16328857 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3039G>C (p.Gly1013=) single nucleotide variant not provided [RCV002163574] Chr16:16165890 [GRCh38]
Chr16:16259747 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2666+15G>A single nucleotide variant not provided [RCV002137719] Chr16:16175896 [GRCh38]
Chr16:16269753 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1473C>T (p.Thr491=) single nucleotide variant not provided [RCV002204408] Chr16:16190326 [GRCh38]
Chr16:16284183 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1339-5C>A single nucleotide variant not provided [RCV002183777] Chr16:16192927 [GRCh38]
Chr16:16286784 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2079G>A (p.Val693=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002500221]|not provided [RCV002118864] Chr16:16182580 [GRCh38]
Chr16:16276437 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1338+62C>G single nucleotide variant Arterial calcification, generalized, of infancy, 2 [RCV002254013]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002254011]|Pseudoxanthoma elasticum, forme fruste [RCV002254012] Chr16:16197959 [GRCh38]
Chr16:16291816 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.2995+17C>T single nucleotide variant not provided [RCV002184261] Chr16:16169629 [GRCh38]
Chr16:16263486 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3939G>A (p.Leu1313=) single nucleotide variant not provided [RCV002220107] Chr16:16154975 [GRCh38]
Chr16:16248832 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3735+10G>A single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505832]|not provided [RCV002155796] Chr16:16159472 [GRCh38]
Chr16:16253329 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3159C>G (p.Asp1053Glu) single nucleotide variant not provided [RCV002122823] Chr16:16165770 [GRCh38]
Chr16:16259627 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.4377C>G (p.Arg1459=) single nucleotide variant not provided [RCV002156014] Chr16:16150604 [GRCh38]
Chr16:16244461 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1432-8G>A single nucleotide variant not provided [RCV002098001] Chr16:16190375 [GRCh38]
Chr16:16284232 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3822C>T (p.Tyr1274=) single nucleotide variant not provided [RCV002182691] Chr16:16157723 [GRCh38]
Chr16:16251580 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3725C>T (p.Thr1242Met) single nucleotide variant not provided [RCV002200199] Chr16:16159492 [GRCh38]
Chr16:16253349 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3489G>A (p.Pro1163=) single nucleotide variant not provided [RCV002177910] Chr16:16163010 [GRCh38]
Chr16:16256867 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2799A>G (p.Thr933=) single nucleotide variant not provided [RCV002159812] Chr16:16169842 [GRCh38]
Chr16:16263699 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3405A>G (p.Thr1135=) single nucleotide variant not provided [RCV002104016] Chr16:16163094 [GRCh38]
Chr16:16256951 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1707G>A (p.Val569=) single nucleotide variant not provided [RCV002183049] Chr16:16188903 [GRCh38]
Chr16:16282760 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3390G>A (p.Thr1130=) single nucleotide variant not provided [RCV002181263] Chr16:16163109 [GRCh38]
Chr16:16256966 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2996-16T>A single nucleotide variant not provided [RCV002136304] Chr16:16165949 [GRCh38]
Chr16:16259806 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3411C>G (p.Val1137=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002500111]|not provided [RCV002084276] Chr16:16163088 [GRCh38]
Chr16:16256945 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4278C>T (p.Asp1426=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002499947]|not provided [RCV002100986] Chr16:16150703 [GRCh38]
Chr16:16244560 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1872C>T (p.Ala624=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505817]|not provided [RCV002136522] Chr16:16185030 [GRCh38]
Chr16:16278887 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3507-15C>T single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002486943]|not provided [RCV002123773] Chr16:16161579 [GRCh38]
Chr16:16255436 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1606C>T (p.Leu536=) single nucleotide variant not provided [RCV002162229] Chr16:16190193 [GRCh38]
Chr16:16284050 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2745G>A (p.Arg915=) single nucleotide variant not provided [RCV002180074] Chr16:16173326 [GRCh38]
Chr16:16267183 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3307-5C>T single nucleotide variant ABCC6-related condition [RCV003893170]|not provided [RCV002202640] Chr16:16163197 [GRCh38]
Chr16:16257054 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2139C>T (p.Phe713=) single nucleotide variant not provided [RCV002162329] Chr16:16182520 [GRCh38]
Chr16:16276377 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1432-5C>T single nucleotide variant not provided [RCV002082998] Chr16:16190372 [GRCh38]
Chr16:16284229 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3363G>A (p.Ser1121=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002498164]|not provided [RCV002175216] Chr16:16163136 [GRCh38]
Chr16:16256993 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4020C>T (p.Ser1340=) single nucleotide variant not provided [RCV002099875] Chr16:16154894 [GRCh38]
Chr16:16248751 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2976G>C (p.Gly992=) single nucleotide variant not provided [RCV002161619] Chr16:16169665 [GRCh38]
Chr16:16263522 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1636-8C>A single nucleotide variant not provided [RCV002200060] Chr16:16188982 [GRCh38]
Chr16:16282839 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1938C>T (p.Leu646=) single nucleotide variant not provided [RCV002203218] Chr16:16184964 [GRCh38]
Chr16:16278821 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1177-13G>T single nucleotide variant not provided [RCV002221003] Chr16:16198195 [GRCh38]
Chr16:16292052 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2385C>T (p.Val795=) single nucleotide variant not provided [RCV002183460] Chr16:16178828 [GRCh38]
Chr16:16272685 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1635+7T>A single nucleotide variant not provided [RCV002098289] Chr16:16190157 [GRCh38]
Chr16:16284014 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4209-18T>C single nucleotide variant not provided [RCV002135902] Chr16:16150790 [GRCh38]
Chr16:16244647 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2943G>A (p.Gln981=) single nucleotide variant not provided [RCV002217219] Chr16:16169698 [GRCh38]
Chr16:16263555 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4209-20A>T single nucleotide variant not provided [RCV002183626] Chr16:16150792 [GRCh38]
Chr16:16244649 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1943+17G>A single nucleotide variant not provided [RCV002204010] Chr16:16184942 [GRCh38]
Chr16:16278799 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3375C>T (p.Ser1125=) single nucleotide variant not provided [RCV002081991] Chr16:16163124 [GRCh38]
Chr16:16256981 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3606G>A (p.Val1202=) single nucleotide variant not provided [RCV002120483] Chr16:16161465 [GRCh38]
Chr16:16255322 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2666+8C>G single nucleotide variant not provided [RCV002219767] Chr16:16175903 [GRCh38]
Chr16:16269760 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1432-13C>G single nucleotide variant not provided [RCV002200712] Chr16:16190380 [GRCh38]
Chr16:16284237 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4332C>T (p.Leu1444=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002500071]|not provided [RCV002141688] Chr16:16150649 [GRCh38]
Chr16:16244506 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2478G>A (p.Leu826=) single nucleotide variant not provided [RCV002217836] Chr16:16177564 [GRCh38]
Chr16:16271421 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3945C>A (p.Leu1315=) single nucleotide variant not provided [RCV002184556] Chr16:16154969 [GRCh38]
Chr16:16248826 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1638C>T (p.Val546=) single nucleotide variant not provided [RCV002099697] Chr16:16188972 [GRCh38]
Chr16:16282829 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3996C>T (p.His1332=) single nucleotide variant not provided [RCV002121231] Chr16:16154918 [GRCh38]
Chr16:16248775 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1177-8C>A single nucleotide variant not provided [RCV002176825] Chr16:16198190 [GRCh38]
Chr16:16292047 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1780-18C>T single nucleotide variant not provided [RCV002203079] Chr16:16187229 [GRCh38]
Chr16:16281086 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1611G>A (p.Val537=) single nucleotide variant not provided [RCV002157679] Chr16:16190188 [GRCh38]
Chr16:16284045 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3684C>T (p.Asn1228=) single nucleotide variant ABCC6-related condition [RCV003971109]|not provided [RCV002163398] Chr16:16159533 [GRCh38]
Chr16:16253390 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1966G>A (p.Gly656Ser) single nucleotide variant not provided [RCV003116121] Chr16:16182908 [GRCh38]
Chr16:16276765 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4258A>C (p.Thr1420Pro) single nucleotide variant not provided [RCV003115610] Chr16:16150723 [GRCh38]
Chr16:16244580 [GRCh37]
Chr16:16p13.11		 uncertain significance
NC_000016.9:g.(?_15758636)_(17564653_?)del deletion Desbuquois dysplasia 1 [RCV003111473] Chr16:15758636..17564653 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_001171.6(ABCC6):c.1242C>T (p.Ser414=) single nucleotide variant not provided [RCV003117957] Chr16:16198117 [GRCh38]
Chr16:16291974 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3755C>G (p.Thr1252Arg) single nucleotide variant not provided [RCV003119996] Chr16:16157790 [GRCh38]
Chr16:16251647 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3510G>A (p.Trp1170Ter) single nucleotide variant not provided [RCV003121790] Chr16:16161561 [GRCh38]
Chr16:16255418 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1868-85del deletion Arterial calcification, generalized, of infancy, 2 [RCV002254028]|Autosomal recessive inherited pseudoxanthoma elasticum [RCV002254026]|Pseudoxanthoma elasticum, forme fruste [RCV002254027] Chr16:16185119 [GRCh38]
Chr16:16278976 [GRCh37]
Chr16:16p13.11		 benign
GRCh37/hg19 16p13.11(chr16:14897625-16494783) copy number loss 16p13.11 microdeletion syndrome [RCV002280700] Chr16:14897625..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14897372-16513267) copy number loss Seizure [RCV002280701] Chr16:14897372..16513267 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14892880-16544222) copy number gain 16p13.11 microduplication syndrome [RCV002280702] Chr16:14892880..16544222 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3 copy number gain See cases [RCV002287559] Chr16:15416716..16529801 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3634-1G>T single nucleotide variant not provided [RCV002276026] Chr16:16159584 [GRCh38]
Chr16:16253441 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16308181-16308306)x1 copy number loss not provided [RCV002276036] Chr16:16308181..16308306 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3 copy number gain See cases [RCV002286336] Chr16:15416917..18770833 [GRCh37]
Chr16:16p13.11-12.3		 uncertain significance
NM_001171.6(ABCC6):c.148A>G (p.Ile50Val) single nucleotide variant Pseudoxanthoma elasticum, forme fruste [RCV002290093] Chr16:16221720 [GRCh38]
Chr16:16315577 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2649C>T (p.Pro883=) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002505903]|not provided [RCV002262508] Chr16:16175928 [GRCh38]
Chr16:16269785 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14927857-16537664) copy number gain Autism [RCV002280694] Chr16:14927857..16537664 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1068G>A (p.Met356Ile) single nucleotide variant Stroke disorder [RCV002287805] Chr16:16202109 [GRCh38]
Chr16:16295966 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1148C>A (p.Ser383Ter) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002283757] Chr16:16202029 [GRCh38]
Chr16:16295886 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3 copy number gain not provided [RCV002472531] Chr16:15316939..18770833 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3 copy number gain not provided [RCV002292935] Chr16:15457516..17564653 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.4269C>T (p.Leu1423=) single nucleotide variant not provided [RCV002681469] Chr16:16150712 [GRCh38]
Chr16:16244569 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2996-7_2996-4del microsatellite Autosomal recessive inherited pseudoxanthoma elasticum [RCV002471604] Chr16:16165937..16165940 [GRCh38]
Chr16:16259794..16259797 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15509407-16527476)x3 copy number gain not provided [RCV002474571] Chr16:15509407..16527476 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1 copy number loss not provided [RCV002472615] Chr16:15449697..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15476224-16330672)x1 copy number loss not provided [RCV002472633] Chr16:15476224..16330672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3 copy number gain not provided [RCV002473711] Chr16:14925995..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16309046)x3 copy number gain not provided [RCV002472724] Chr16:15509407..16309046 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3 copy number gain not provided [RCV002472543] Chr16:15423704..16327961 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330672)x3 copy number gain not provided [RCV002474521] Chr16:15509407..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp) single nucleotide variant Autosomal recessive inherited pseudoxanthoma elasticum [RCV002471606]|not provided [RCV002571458] Chr16:16190223 [GRCh38]
Chr16:16284080 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2738_2739del (p.Pro913fs) deletion Autosomal recessive inherited pseudoxanthoma elasticum [RCV002464967] Chr16:16173332..16173333 [GRCh38]
Chr16:16267189..16267190 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15481921-16330672)x3 copy number gain not provided [RCV002474550] Chr16:15481921..16330672 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.2488G>A (p.Ala830Thr) single nucleotide variant not provided [RCV002304481] Chr16:16177554 [GRCh38]
Chr16:16271411 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15509407-16319630)x3 copy number gain not provided [RCV002472542] Chr16:15509407..16319630 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15509407-16330477)x3 copy number gain not provided [RCV002472550] Chr16:15509407..16330477 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3731A>G (p.Lys1244Arg) single nucleotide variant not provided [RCV002295455] Chr16:16159486 [GRCh38]
Chr16:16253343 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4108G>A (p.Ala1370Thr) single nucleotide variant not provided [RCV002294864] Chr16:16154728 [GRCh38]
Chr16:16248585 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1472C>T (p.Thr491Ile) single nucleotide variant not provided [RCV002303244] Chr16:16190327 [GRCh38]
Chr16:16284184 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1266G>T (p.Glu422Asp) single nucleotide variant not provided [RCV002302417] Chr16:16198093 [GRCh38]
Chr16:16291950 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1684A>G (p.Met562Val) single nucleotide variant not provided [RCV002731440] Chr16:16188926 [GRCh38]
Chr16:16282783 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1287G>T (p.Gly429=) single nucleotide variant not provided [RCV002776606] Chr16:16198072 [GRCh38]
Chr16:16291929 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1791del (p.Phe598fs) deletion not provided [RCV002751516] Chr16:16187200 [GRCh38]
Chr16:16281057 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3 copy number gain not provided [RCV002511850] Chr16:14927709..16484731 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1960C>T (p.Pro654Ser) single nucleotide variant not provided [RCV003013476] Chr16:16182914 [GRCh38]
Chr16:16276771 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1636-8C>T single nucleotide variant not provided [RCV003033519] Chr16:16188982 [GRCh38]
Chr16:16282839 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2996-5C>T single nucleotide variant not provided [RCV003013274] Chr16:16165938 [GRCh38]
Chr16:16259795 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4252C>A (p.Arg1418=) single nucleotide variant not provided [RCV003014186] Chr16:16150729 [GRCh38]
Chr16:16244586 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1867+13T>C single nucleotide variant not provided [RCV003014208] Chr16:16187111 [GRCh38]
Chr16:16280968 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2023G>A (p.Ala675Thr) single nucleotide variant not provided [RCV002617361] Chr16:16182851 [GRCh38]
Chr16:16276708 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3769C>A (p.Pro1257Thr) single nucleotide variant not provided [RCV002861300] Chr16:16157776 [GRCh38]
Chr16:16251633 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4489G>A (p.Ala1497Thr) single nucleotide variant not provided [RCV003033277] Chr16:16150156 [GRCh38]
Chr16:16244013 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3045G>A (p.Arg1015=) single nucleotide variant not provided [RCV002881407] Chr16:16165884 [GRCh38]
Chr16:16259741 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3312G>C (p.Leu1104=) single nucleotide variant not provided [RCV002993507] Chr16:16163187 [GRCh38]
Chr16:16257044 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3377A>C (p.His1126Pro) single nucleotide variant not provided [RCV003012243] Chr16:16163122 [GRCh38]
Chr16:16256979 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2360T>A (p.Val787Asp) single nucleotide variant not provided [RCV002819883] Chr16:16178853 [GRCh38]
Chr16:16272710 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2996-11T>G single nucleotide variant not provided [RCV002511836] Chr16:16165944 [GRCh38]
Chr16:16259801 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3404C>T (p.Thr1135Ile) single nucleotide variant not provided [RCV003035249] Chr16:16163095 [GRCh38]
Chr16:16256952 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2626G>C (p.Gly876Arg) single nucleotide variant not provided [RCV003015078] Chr16:16175951 [GRCh38]
Chr16:16269808 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4005G>A (p.Leu1335=) single nucleotide variant not provided [RCV002948061] Chr16:16154909 [GRCh38]
Chr16:16248766 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1461G>A (p.Arg487=) single nucleotide variant not provided [RCV002838507] Chr16:16190338 [GRCh38]
Chr16:16284195 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4191C>T (p.Asp1397=) single nucleotide variant not provided [RCV003034788] Chr16:16154645 [GRCh38]
Chr16:16248502 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1232A>G (p.Asn411Ser) single nucleotide variant ABCC6-related condition [RCV003410027]|not provided [RCV002996380] Chr16:16198127 [GRCh38]
Chr16:16291984 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3911G>A (p.Gly1304Glu) single nucleotide variant not provided [RCV002842789] Chr16:16155003 [GRCh38]
Chr16:16248860 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3670A>G (p.Thr1224Ala) single nucleotide variant not provided [RCV002756446] Chr16:16159547 [GRCh38]
Chr16:16253404 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3890T>A (p.Ile1297Asn) single nucleotide variant not provided [RCV002690109] Chr16:16155024 [GRCh38]
Chr16:16248881 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4482C>T (p.Tyr1494=) single nucleotide variant not provided [RCV003017729] Chr16:16150163 [GRCh38]
Chr16:16244020 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3735+14G>A single nucleotide variant not provided [RCV003013477] Chr16:16159468 [GRCh38]
Chr16:16253325 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2445C>T (p.His815=) single nucleotide variant not provided [RCV003032866] Chr16:16177597 [GRCh38]
Chr16:16271454 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2891G>A (p.Arg964Gln) single nucleotide variant not provided [RCV002690529] Chr16:16169750 [GRCh38]
Chr16:16263607 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3633+5T>C single nucleotide variant not provided [RCV002975508] Chr16:16161433 [GRCh38]
Chr16:16255290 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4403+7C>A single nucleotide variant not provided [RCV002865966] Chr16:16150571 [GRCh38]
Chr16:16244428 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2667-9A>G single nucleotide variant ABCC6-related condition [RCV003903736]|not provided [RCV002613707] Chr16:16173413 [GRCh38]
Chr16:16267270 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2368C>T (p.His790Tyr) single nucleotide variant not provided [RCV002972527] Chr16:16178845 [GRCh38]
Chr16:16272702 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2996-9C>T single nucleotide variant not provided [RCV002995062] Chr16:16165942 [GRCh38]
Chr16:16259799 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2777A>G (p.Gln926Arg) single nucleotide variant not provided [RCV002686086] Chr16:16173294 [GRCh38]
Chr16:16267151 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1183G>A (p.Ala395Thr) single nucleotide variant not provided [RCV003014919] Chr16:16198176 [GRCh38]
Chr16:16292033 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4060G>A (p.Gly1354Ser) single nucleotide variant not provided [RCV003012361] Chr16:16154776 [GRCh38]
Chr16:16248633 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1487G>A (p.Arg496Lys) single nucleotide variant not provided [RCV002730773] Chr16:16190312 [GRCh38]
Chr16:16284169 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2819G>A (p.Arg940His) single nucleotide variant not provided [RCV002511837] Chr16:16169822 [GRCh38]
Chr16:16263679 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4404-17C>G single nucleotide variant not provided [RCV002971972] Chr16:16150258 [GRCh38]
Chr16:16244115 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3042C>T (p.Ala1014=) single nucleotide variant not provided [RCV002616759] Chr16:16165887 [GRCh38]
Chr16:16259744 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2977C>T (p.Leu993Phe) single nucleotide variant not provided [RCV002681114] Chr16:16169664 [GRCh38]
Chr16:16263521 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.818A>G (p.Lys273Arg) single nucleotide variant Inborn genetic diseases [RCV002772702] Chr16:16203590 [GRCh38]
Chr16:16297447 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2494G>A (p.Ala832Thr) single nucleotide variant not provided [RCV002616645] Chr16:16177548 [GRCh38]
Chr16:16271405 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2666+18C>T single nucleotide variant not provided [RCV002947704] Chr16:16175893 [GRCh38]
Chr16:16269750 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1215G>A (p.Ala405=) single nucleotide variant not provided [RCV002947395] Chr16:16198144 [GRCh38]
Chr16:16292001 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2071-12G>A single nucleotide variant not provided [RCV002996974] Chr16:16182600 [GRCh38]
Chr16:16276457 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3927C>T (p.Ala1309=) single nucleotide variant not provided [RCV003015129] Chr16:16154987 [GRCh38]
Chr16:16248844 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4367T>C (p.Ile1456Thr) single nucleotide variant not provided [RCV002819457] Chr16:16150614 [GRCh38]
Chr16:16244471 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4302T>C (p.Pro1434=) single nucleotide variant not provided [RCV002996731] Chr16:16150679 [GRCh38]
Chr16:16244536 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1338+20C>T single nucleotide variant not provided [RCV002618520] Chr16:16198001 [GRCh38]
Chr16:16291858 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4070G>C (p.Arg1357Pro) single nucleotide variant not provided [RCV002908105] Chr16:16154766 [GRCh38]
Chr16:16248623 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.2029_2031del (p.Leu677del) deletion not provided [RCV002858348] Chr16:16182843..16182845 [GRCh38]
Chr16:16276700..16276702 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2955C>A (p.Ala985=) single nucleotide variant not provided [RCV002881263] Chr16:16169686 [GRCh38]
Chr16:16263543 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.239T>C (p.Ile80Thr) single nucleotide variant Inborn genetic diseases [RCV002911856] Chr16:16219928 [GRCh38]
Chr16:16313785 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2599C>A (p.Pro867Thr) single nucleotide variant not provided [RCV002592069] Chr16:16175978 [GRCh38]
Chr16:16269835 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2443C>T (p.His815Tyr) single nucleotide variant not provided [RCV002795544] Chr16:16177599 [GRCh38]
Chr16:16271456 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1636-10dup duplication not provided [RCV002621530] Chr16:16188983..16188984 [GRCh38]
Chr16:16282840..16282841 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1401C>A (p.Phe467Leu) single nucleotide variant not provided [RCV002824972] Chr16:16192860 [GRCh38]
Chr16:16286717 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2166G>A (p.Leu722=) single nucleotide variant not provided [RCV002800017] Chr16:16182493 [GRCh38]
Chr16:16276350 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1780-3T>C single nucleotide variant not provided [RCV002740159] Chr16:16187214 [GRCh38]
Chr16:16281071 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1370C>G (p.Ala457Gly) single nucleotide variant not provided [RCV002623069] Chr16:16192891 [GRCh38]
Chr16:16286748 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4041+16G>T single nucleotide variant not provided [RCV002705658] Chr16:16154857 [GRCh38]
Chr16:16248714 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3773C>G (p.Pro1258Arg) single nucleotide variant not provided [RCV002621739] Chr16:16157772 [GRCh38]
Chr16:16251629 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2919C>T (p.Asp973=) single nucleotide variant not provided [RCV002761380] Chr16:16169722 [GRCh38]
Chr16:16263579 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2908C>T (p.Leu970=) single nucleotide variant not provided [RCV002785777] Chr16:16169733 [GRCh38]
Chr16:16263590 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1892T>C (p.Ile631Thr) single nucleotide variant Inborn genetic diseases [RCV002623168]|not provided [RCV002657789] Chr16:16185010 [GRCh38]
Chr16:16278867 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1288del (p.Leu430fs) deletion Pseudoxanthoma elasticum, forme fruste [RCV003152808]|not provided [RCV002953402] Chr16:16198071 [GRCh38]
Chr16:16291928 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
NM_001171.6(ABCC6):c.2875G>C (p.Val959Leu) single nucleotide variant not provided [RCV002694849] Chr16:16169766 [GRCh38]
Chr16:16263623 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2415+11G>A single nucleotide variant not provided [RCV002623106] Chr16:16178787 [GRCh38]
Chr16:16272644 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1636-10C>G single nucleotide variant not provided [RCV002795331] Chr16:16188984 [GRCh38]
Chr16:16282841 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3023C>T (p.Ala1008Val) single nucleotide variant Inborn genetic diseases [RCV003269280]|not provided [RCV002785730] Chr16:16165906 [GRCh38]
Chr16:16259763 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4093del (p.Glu1365fs) deletion not provided [RCV003021885] Chr16:16154743 [GRCh38]
Chr16:16248600 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3740C>G (p.Pro1247Arg) single nucleotide variant not provided [RCV002885633] Chr16:16157805 [GRCh38]
Chr16:16251662 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2591-13C>G single nucleotide variant not provided [RCV003036939] Chr16:16175999 [GRCh38]
Chr16:16269856 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1494G>A (p.Ser498=) single nucleotide variant not provided [RCV002658895] Chr16:16190305 [GRCh38]
Chr16:16284162 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3735+3G>C single nucleotide variant not provided [RCV003019383] Chr16:16159479 [GRCh38]
Chr16:16253336 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4101G>A (p.Ser1367=) single nucleotide variant not provided [RCV003077300] Chr16:16154735 [GRCh38]
Chr16:16248592 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1881T>C (p.Asp627=) single nucleotide variant not provided [RCV002591029] Chr16:16185021 [GRCh38]
Chr16:16278878 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4002G>T (p.Gly1334=) single nucleotide variant not provided [RCV002638792] Chr16:16154912 [GRCh38]
Chr16:16248769 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1452G>A (p.Lys484=) single nucleotide variant not provided [RCV002590886] Chr16:16190347 [GRCh38]
Chr16:16284204 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3018G>A (p.Met1006Ile) single nucleotide variant not provided [RCV003035768] Chr16:16165911 [GRCh38]
Chr16:16259768 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1200C>T (p.Ser400=) single nucleotide variant not provided [RCV002639085] Chr16:16198159 [GRCh38]
Chr16:16292016 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2995+4C>G single nucleotide variant not provided [RCV002909772] Chr16:16169642 [GRCh38]
Chr16:16263499 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4131G>C (p.Thr1377=) single nucleotide variant not provided [RCV002619567] Chr16:16154705 [GRCh38]
Chr16:16248562 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2792A>G (p.Lys931Arg) single nucleotide variant not provided [RCV003020264] Chr16:16169849 [GRCh38]
Chr16:16263706 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2095G>A (p.Glu699Lys) single nucleotide variant not provided [RCV002591078] Chr16:16182564 [GRCh38]
Chr16:16276421 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3162G>A (p.Thr1054=) single nucleotide variant not provided [RCV002570187] Chr16:16165767 [GRCh38]
Chr16:16259624 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2752T>G (p.Trp918Gly) single nucleotide variant not provided [RCV002639184] Chr16:16173319 [GRCh38]
Chr16:16267176 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2078T>A (p.Val693Glu) single nucleotide variant not provided [RCV002824164] Chr16:16182581 [GRCh38]
Chr16:16276438 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2662G>A (p.Glu888Lys) single nucleotide variant not provided [RCV003079508] Chr16:16175915 [GRCh38]
Chr16:16269772 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1202G>A (p.Arg401Lys) single nucleotide variant not provided [RCV002976086] Chr16:16198157 [GRCh38]
Chr16:16292014 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1177-8C>T single nucleotide variant not provided [RCV003018173] Chr16:16198190 [GRCh38]
Chr16:16292047 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1766A>G (p.His589Arg) single nucleotide variant not provided [RCV002797259] Chr16:16188844 [GRCh38]
Chr16:16282701 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3634-15G>T single nucleotide variant not provided [RCV002824078] Chr16:16159598 [GRCh38]
Chr16:16253455 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1302C>G (p.Leu434=) single nucleotide variant not provided [RCV002866671] Chr16:16198057 [GRCh38]
Chr16:16291914 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2722G>A (p.Val908Ile) single nucleotide variant Inborn genetic diseases [RCV002707085] Chr16:16173349 [GRCh38]
Chr16:16267206 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1270G>A (p.Val424Ile) single nucleotide variant Inborn genetic diseases [RCV002998218] Chr16:16198089 [GRCh38]
Chr16:16291946 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1779+16G>A single nucleotide variant not provided [RCV002796617] Chr16:16188815 [GRCh38]
Chr16:16282672 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4209-3C>T single nucleotide variant not provided [RCV002760675] Chr16:16150775 [GRCh38]
Chr16:16244632 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2436C>T (p.His812=) single nucleotide variant not provided [RCV002590527] Chr16:16177606 [GRCh38]
Chr16:16271463 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3740C>T (p.Pro1247Leu) single nucleotide variant not provided [RCV003053652] Chr16:16157805 [GRCh38]
Chr16:16251662 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2063G>A (p.Ser688Asn) single nucleotide variant Inborn genetic diseases [RCV003348964]|not provided [RCV002976676] Chr16:16182811 [GRCh38]
Chr16:16276668 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3735+12G>C single nucleotide variant not provided [RCV002886325] Chr16:16159470 [GRCh38]
Chr16:16253327 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1338+1G>T single nucleotide variant not provided [RCV002736676] Chr16:16198020 [GRCh38]
Chr16:16291877 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.4208+8C>G single nucleotide variant not provided [RCV002847952] Chr16:16154620 [GRCh38]
Chr16:16248477 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2915C>T (p.Ala972Val) single nucleotide variant not provided [RCV002795568] Chr16:16169726 [GRCh38]
Chr16:16263583 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2995+20_2995+22del microsatellite not provided [RCV002638844] Chr16:16169624..16169626 [GRCh38]
Chr16:16263481..16263483 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3618C>T (p.Val1206=) single nucleotide variant not provided [RCV002844017] Chr16:16161453 [GRCh38]
Chr16:16255310 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2678C>T (p.Ser893Leu) single nucleotide variant not provided [RCV002735080] Chr16:16173393 [GRCh38]
Chr16:16267250 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4404-23_4404-20del microsatellite not provided [RCV002570952] Chr16:16150261..16150264 [GRCh38]
Chr16:16244118..16244121 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4446C>A (p.Ser1482Arg) single nucleotide variant not provided [RCV003020796] Chr16:16150199 [GRCh38]
Chr16:16244056 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3736-6C>T single nucleotide variant not provided [RCV002953031] Chr16:16157815 [GRCh38]
Chr16:16251672 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3306+8G>A single nucleotide variant not provided [RCV002979259] Chr16:16165615 [GRCh38]
Chr16:16259472 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1419G>A (p.Arg473=) single nucleotide variant not provided [RCV002889409] Chr16:16192842 [GRCh38]
Chr16:16286699 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2045A>T (p.Lys682Met) single nucleotide variant not provided [RCV002639159] Chr16:16182829 [GRCh38]
Chr16:16276686 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.788C>G (p.Ala263Gly) single nucleotide variant Inborn genetic diseases [RCV002706813] Chr16:16208734 [GRCh38]
Chr16:16302591 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4154C>T (p.Ala1385Val) single nucleotide variant not provided [RCV002695654] Chr16:16154682 [GRCh38]
Chr16:16248539 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3308G>A (p.Ser1103Asn) single nucleotide variant not provided [RCV003053881] Chr16:16163191 [GRCh38]
Chr16:16257048 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2884T>C (p.Phe962Leu) single nucleotide variant not provided [RCV002736379] Chr16:16169757 [GRCh38]
Chr16:16263614 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3522T>C (p.Asn1174=) single nucleotide variant not provided [RCV003054760] Chr16:16161549 [GRCh38]
Chr16:16255406 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4056C>T (p.Phe1352=) single nucleotide variant not provided [RCV002781487] Chr16:16154780 [GRCh38]
Chr16:16248637 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1764C>G (p.Ile588Met) single nucleotide variant not provided [RCV002662543] Chr16:16188846 [GRCh38]
Chr16:16282703 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3566G>A (p.Cys1189Tyr) single nucleotide variant not provided [RCV002917577] Chr16:16161505 [GRCh38]
Chr16:16255362 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1284C>G (p.Asn428Lys) single nucleotide variant not provided [RCV003058494] Chr16:16198075 [GRCh38]
Chr16:16291932 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2954C>T (p.Ala985Val) single nucleotide variant not provided [RCV002667400] Chr16:16169687 [GRCh38]
Chr16:16263544 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2248-19G>A single nucleotide variant not provided [RCV002895029] Chr16:16178984 [GRCh38]
Chr16:16272841 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2692G>T (p.Asp898Tyr) single nucleotide variant not provided [RCV002791362] Chr16:16173379 [GRCh38]
Chr16:16267236 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4371C>G (p.Ala1457=) single nucleotide variant not provided [RCV002800841] Chr16:16150610 [GRCh38]
Chr16:16244467 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3089G>C (p.Arg1030Pro) single nucleotide variant not provided [RCV002954152] Chr16:16165840 [GRCh38]
Chr16:16259697 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1815C>G (p.Leu605=) single nucleotide variant not provided [RCV002741327] Chr16:16187176 [GRCh38]
Chr16:16281033 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3335dup (p.Arg1113fs) duplication not provided [RCV003059685] Chr16:16163163..16163164 [GRCh38]
Chr16:16257020..16257021 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4490C>T (p.Ala1497Val) single nucleotide variant not provided [RCV002576420] Chr16:16150155 [GRCh38]
Chr16:16244012 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2758G>C (p.Ala920Pro) single nucleotide variant not provided [RCV003025174] Chr16:16173313 [GRCh38]
Chr16:16267170 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1328A>G (p.Tyr443Cys) single nucleotide variant not provided [RCV002805472] Chr16:16198031 [GRCh38]
Chr16:16291888 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1262C>T (p.Thr421Ile) single nucleotide variant not provided [RCV002667980] Chr16:16198097 [GRCh38]
Chr16:16291954 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.779G>A (p.Arg260His) single nucleotide variant Inborn genetic diseases [RCV002987756] Chr16:16208743 [GRCh38]
Chr16:16302600 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2104G>A (p.Val702Met) single nucleotide variant Inborn genetic diseases [RCV002804757] Chr16:16182555 [GRCh38]
Chr16:16276412 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2579GAG[1] (p.Gly861del) microsatellite not provided [RCV002745592] Chr16:16177458..16177460 [GRCh38]
Chr16:16271315..16271317 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1303G>A (p.Val435Ile) single nucleotide variant not provided [RCV002667804] Chr16:16198056 [GRCh38]
Chr16:16291913 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1046G>A (p.Gly349Asp) single nucleotide variant Inborn genetic diseases [RCV002713184] Chr16:16202131 [GRCh38]
Chr16:16295988 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1944-5T>C single nucleotide variant not provided [RCV002576244] Chr16:16182935 [GRCh38]
Chr16:16276792 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2917G>A (p.Asp973Asn) single nucleotide variant Inborn genetic diseases [RCV003308145]|not provided [RCV002573964] Chr16:16169724 [GRCh38]
Chr16:16263581 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1552C>A (p.Arg518=) single nucleotide variant not provided [RCV002700117] Chr16:16190247 [GRCh38]
Chr16:16284104 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.284A>G (p.Gln95Arg) single nucleotide variant Inborn genetic diseases [RCV002954501] Chr16:16219883 [GRCh38]
Chr16:16313740 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3885G>A (p.Val1295=) single nucleotide variant not provided [RCV002574151] Chr16:16155029 [GRCh38]
Chr16:16248886 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1005C>A (p.Phe335Leu) single nucleotide variant Inborn genetic diseases [RCV002787637] Chr16:16202172 [GRCh38]
Chr16:16296029 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.167A>G (p.His56Arg) single nucleotide variant Inborn genetic diseases [RCV002983618] Chr16:16221701 [GRCh38]
Chr16:16315558 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1432-24CT[2] microsatellite not provided [RCV003024361] Chr16:16190386..16190387 [GRCh38]
Chr16:16284243..16284244 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3736-7_3736-6delinsAA indel not provided [RCV002700515] Chr16:16157815..16157816 [GRCh38]
Chr16:16251672..16251673 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1636-7C>A single nucleotide variant not provided [RCV002595478] Chr16:16188981 [GRCh38]
Chr16:16282838 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.698C>T (p.Pro233Leu) single nucleotide variant Inborn genetic diseases [RCV002709737] Chr16:16208824 [GRCh38]
Chr16:16302681 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1357C>T (p.Leu453Phe) single nucleotide variant not provided [RCV002851176] Chr16:16192904 [GRCh38]
Chr16:16286761 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3634-13T>C single nucleotide variant not provided [RCV003006435] Chr16:16159596 [GRCh38]
Chr16:16253453 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3301T>C (p.Phe1101Leu) single nucleotide variant not provided [RCV002786143] Chr16:16165628 [GRCh38]
Chr16:16259485 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3628C>G (p.Leu1210Val) single nucleotide variant not provided [RCV002663717] Chr16:16161443 [GRCh38]
Chr16:16255300 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3507-17_3507-16inv inversion not provided [RCV002801951] Chr16:16161580..16161581 [GRCh38]
Chr16:16255437..16255438 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2236A>T (p.Ile746Phe) single nucleotide variant not provided [RCV003023522] Chr16:16182423 [GRCh38]
Chr16:16276280 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3754A>C (p.Thr1252Pro) single nucleotide variant not provided [RCV002982546] Chr16:16157791 [GRCh38]
Chr16:16251648 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1855T>G (p.Ser619Ala) single nucleotide variant not provided [RCV003023962] Chr16:16187136 [GRCh38]
Chr16:16280993 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4512_*5del (p.Ter1504Xaa) deletion not provided [RCV002766782] Chr16:16150128..16150133 [GRCh38]
Chr16:16243985..16243990 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1786del (p.Val596fs) deletion not provided [RCV003024725] Chr16:16187205 [GRCh38]
Chr16:16281062 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3671C>T (p.Thr1224Ile) single nucleotide variant not provided [RCV002851060] Chr16:16159546 [GRCh38]
Chr16:16253403 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2995+9C>T single nucleotide variant not provided [RCV003055970] Chr16:16169637 [GRCh38]
Chr16:16263494 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2297C>T (p.Ala766Val) single nucleotide variant not provided [RCV002801981] Chr16:16178916 [GRCh38]
Chr16:16272773 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2738C>A (p.Pro913His) single nucleotide variant Inborn genetic diseases [RCV002874443] Chr16:16173333 [GRCh38]
Chr16:16267190 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3515C>A (p.Ala1172Glu) single nucleotide variant not provided [RCV002712004] Chr16:16161556 [GRCh38]
Chr16:16255413 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2604G>A (p.Gly868=) single nucleotide variant not provided [RCV002894048] Chr16:16175973 [GRCh38]
Chr16:16269830 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3882+8G>A single nucleotide variant not provided [RCV002932031] Chr16:16157655 [GRCh38]
Chr16:16251512 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1462G>A (p.Ala488Thr) single nucleotide variant not provided [RCV002576127] Chr16:16190337 [GRCh38]
Chr16:16284194 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4042-7C>T single nucleotide variant not provided [RCV003025800] Chr16:16154801 [GRCh38]
Chr16:16248658 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4297del (p.Asp1433fs) deletion not provided [RCV003039939] Chr16:16150684 [GRCh38]
Chr16:16244541 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2945C>T (p.Thr982Met) single nucleotide variant not provided [RCV002765881] Chr16:16169696 [GRCh38]
Chr16:16263553 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3244G>C (p.Val1082Leu) single nucleotide variant not provided [RCV003022184] Chr16:16165685 [GRCh38]
Chr16:16259542 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1886T>C (p.Ile629Thr) single nucleotide variant not provided [RCV002643812] Chr16:16185016 [GRCh38]
Chr16:16278873 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3913_3931dup (p.Gly1311fs) duplication not provided [RCV002852774] Chr16:16154982..16154983 [GRCh38]
Chr16:16248839..16248840 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3157G>T (p.Asp1053Tyr) single nucleotide variant Inborn genetic diseases [RCV002712798] Chr16:16165772 [GRCh38]
Chr16:16259629 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3282G>A (p.Leu1094=) single nucleotide variant not provided [RCV003006476] Chr16:16165647 [GRCh38]
Chr16:16259504 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3150G>A (p.Lys1050=) single nucleotide variant not provided [RCV002853060] Chr16:16165779 [GRCh38]
Chr16:16259636 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2589A>G (p.Gly863=) single nucleotide variant not provided [RCV002711995] Chr16:16177453 [GRCh38]
Chr16:16271310 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3318G>T (p.Val1106=) single nucleotide variant not provided [RCV002829163] Chr16:16163181 [GRCh38]
Chr16:16257038 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3063C>A (p.Phe1021Leu) single nucleotide variant not provided [RCV002626086] Chr16:16165866 [GRCh38]
Chr16:16259723 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3885G>C (p.Val1295=) single nucleotide variant not provided [RCV002853266] Chr16:16155029 [GRCh38]
Chr16:16248886 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1769C>T (p.Ser590Phe) single nucleotide variant not provided [RCV002985522] Chr16:16188841 [GRCh38]
Chr16:16282698 [GRCh37]
Chr16:16p13.11		 likely benign|conflicting interpretations of pathogenicity
NM_001171.6(ABCC6):c.1846G>T (p.Asp616Tyr) single nucleotide variant not provided [RCV002572462] Chr16:16187145 [GRCh38]
Chr16:16281002 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1493C>T (p.Ser498Leu) single nucleotide variant Inborn genetic diseases [RCV003382893]|not provided [RCV002572989] Chr16:16190306 [GRCh38]
Chr16:16284163 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1407C>G (p.Ile469Met) single nucleotide variant not provided [RCV003025105] Chr16:16192854 [GRCh38]
Chr16:16286711 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3226G>T (p.Val1076Phe) single nucleotide variant not provided [RCV003082692] Chr16:16165703 [GRCh38]
Chr16:16259560 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3077G>A (p.Trp1026Ter) single nucleotide variant not provided [RCV003025296] Chr16:16165852 [GRCh38]
Chr16:16259709 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3195C>T (p.Ser1065=) single nucleotide variant not provided [RCV002594769] Chr16:16165734 [GRCh38]
Chr16:16259591 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1841_1842delinsCT (p.Val614Ala) indel not provided [RCV002932124] Chr16:16187149..16187150 [GRCh38]
Chr16:16281006..16281007 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2335C>A (p.Pro779Thr) single nucleotide variant not provided [RCV003083244] Chr16:16178878 [GRCh38]
Chr16:16272735 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2964C>A (p.Gly988=) single nucleotide variant not provided [RCV003040122] Chr16:16169677 [GRCh38]
Chr16:16263534 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2169G>A (p.Glu723=) single nucleotide variant not provided [RCV003041114] Chr16:16182490 [GRCh38]
Chr16:16276347 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2987G>C (p.Cys996Ser) single nucleotide variant not provided [RCV003022217] Chr16:16169654 [GRCh38]
Chr16:16263511 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2536G>C (p.Ala846Pro) single nucleotide variant not provided [RCV002649713] Chr16:16177506 [GRCh38]
Chr16:16271363 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2579G>A (p.Arg860Lys) single nucleotide variant not provided [RCV002811321] Chr16:16177463 [GRCh38]
Chr16:16271320 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1999G>A (p.Ala667Thr) single nucleotide variant Inborn genetic diseases [RCV002936344] Chr16:16182875 [GRCh38]
Chr16:16276732 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1386C>T (p.Leu462=) single nucleotide variant not provided [RCV002716097] Chr16:16192875 [GRCh38]
Chr16:16286732 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2692G>A (p.Asp898Asn) single nucleotide variant not provided [RCV002650744] Chr16:16173379 [GRCh38]
Chr16:16267236 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1868-16C>G single nucleotide variant not provided [RCV002720130] Chr16:16185050 [GRCh38]
Chr16:16278907 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2022C>T (p.Ser674=) single nucleotide variant not provided [RCV002647090] Chr16:16182852 [GRCh38]
Chr16:16276709 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2070+20G>C single nucleotide variant not provided [RCV002601947] Chr16:16182784 [GRCh38]
Chr16:16276641 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3654G>T (p.Trp1218Cys) single nucleotide variant not provided [RCV002632000] Chr16:16159563 [GRCh38]
Chr16:16253420 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3525G>A (p.Val1175=) single nucleotide variant not provided [RCV003027798] Chr16:16161546 [GRCh38]
Chr16:16255403 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4279G>A (p.Glu1427Lys) single nucleotide variant ABCC6-related condition [RCV003410051]|not provided [RCV003064324] Chr16:16150702 [GRCh38]
Chr16:16244559 [GRCh37]
Chr16:16p13.11		 likely pathogenic|uncertain significance
NM_001171.6(ABCC6):c.3976G>A (p.Asp1326Asn) single nucleotide variant not provided [RCV003064325] Chr16:16154938 [GRCh38]
Chr16:16248795 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3299G>A (p.Gly1100Glu) single nucleotide variant not provided [RCV003064326] Chr16:16165630 [GRCh38]
Chr16:16259487 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1943+16del deletion not provided [RCV002675982] Chr16:16184943 [GRCh38]
Chr16:16278800 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2124A>G (p.Val708=) single nucleotide variant not provided [RCV003048602] Chr16:16182535 [GRCh38]
Chr16:16276392 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4248T>C (p.Leu1416=) single nucleotide variant not provided [RCV003043773] Chr16:16150733 [GRCh38]
Chr16:16244590 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2416-10C>A single nucleotide variant not provided [RCV002877466] Chr16:16177636 [GRCh38]
Chr16:16271493 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2796C>T (p.Ala932=) single nucleotide variant not provided [RCV002631658] Chr16:16169845 [GRCh38]
Chr16:16263702 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4376G>A (p.Arg1459His) single nucleotide variant not provided [RCV003064323] Chr16:16150605 [GRCh38]
Chr16:16244462 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2928A>C (p.Ala976=) single nucleotide variant not provided [RCV002806558] Chr16:16169713 [GRCh38]
Chr16:16263570 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4293C>T (p.Ala1431=) single nucleotide variant not provided [RCV002598530] Chr16:16150688 [GRCh38]
Chr16:16244545 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4251C>G (p.Leu1417=) single nucleotide variant not provided [RCV003045242] Chr16:16150730 [GRCh38]
Chr16:16244587 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1311C>T (p.Ile437=) single nucleotide variant not provided [RCV002628209] Chr16:16198048 [GRCh38]
Chr16:16291905 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4434A>G (p.Ala1478=) single nucleotide variant not provided [RCV002628091] Chr16:16150211 [GRCh38]
Chr16:16244068 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3184A>G (p.Lys1062Glu) single nucleotide variant not provided [RCV002579721] Chr16:16165745 [GRCh38]
Chr16:16259602 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1277A>G (p.Tyr426Cys) single nucleotide variant not provided [RCV002834675] Chr16:16198082 [GRCh38]
Chr16:16291939 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3735+3G>A single nucleotide variant not provided [RCV002600650] Chr16:16159479 [GRCh38]
Chr16:16253336 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1388T>C (p.Leu463Pro) single nucleotide variant not provided [RCV002922588] Chr16:16192873 [GRCh38]
Chr16:16286730 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2125G>C (p.Glu709Gln) single nucleotide variant not provided [RCV003029298] Chr16:16182534 [GRCh38]
Chr16:16276391 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2590+4C>T single nucleotide variant not provided [RCV002806436] Chr16:16177448 [GRCh38]
Chr16:16271305 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1873G>A (p.Gly625Arg) single nucleotide variant Inborn genetic diseases [RCV003087546]|not provided [RCV003087545] Chr16:16185029 [GRCh38]
Chr16:16278886 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3579C>T (p.Ser1193=) single nucleotide variant not provided [RCV002598361] Chr16:16161492 [GRCh38]
Chr16:16255349 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3571G>A (p.Val1191Met) single nucleotide variant not provided [RCV002833474] Chr16:16161500 [GRCh38]
Chr16:16255357 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2286C>T (p.Ser762=) single nucleotide variant not provided [RCV002806526] Chr16:16178927 [GRCh38]
Chr16:16272784 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4404-5C>T single nucleotide variant not provided [RCV002715859] Chr16:16150246 [GRCh38]
Chr16:16244103 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1987G>C (p.Gly663Arg) single nucleotide variant not provided [RCV002834151] Chr16:16182887 [GRCh38]
Chr16:16276744 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3306+14A>G single nucleotide variant not provided [RCV002833768] Chr16:16165609 [GRCh38]
Chr16:16259466 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2849C>T (p.Ala950Val) single nucleotide variant not provided [RCV003064327] Chr16:16169792 [GRCh38]
Chr16:16263649 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3639C>T (p.Thr1213=) single nucleotide variant not provided [RCV002579191] Chr16:16159578 [GRCh38]
Chr16:16253435 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3455C>T (p.Ala1152Val) single nucleotide variant not provided [RCV002714919] Chr16:16163044 [GRCh38]
Chr16:16256901 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2747C>T (p.Ala916Val) single nucleotide variant not provided [RCV002962755] Chr16:16173324 [GRCh38]
Chr16:16267181 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1514G>A (p.Gly505Asp) single nucleotide variant not provided [RCV002899785] Chr16:16190285 [GRCh38]
Chr16:16284142 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3900G>A (p.Arg1300=) single nucleotide variant not provided [RCV002938500] Chr16:16155014 [GRCh38]
Chr16:16248871 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2178A>G (p.Leu726=) single nucleotide variant not provided [RCV002810144] Chr16:16182481 [GRCh38]
Chr16:16276338 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1233_1234delinsCG (p.Leu412Val) indel not provided [RCV002811109] Chr16:16198125..16198126 [GRCh38]
Chr16:16291982..16291983 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3699G>A (p.Val1233=) single nucleotide variant not provided [RCV002720090] Chr16:16159518 [GRCh38]
Chr16:16253375 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1639G>T (p.Ala547Ser) single nucleotide variant not provided [RCV002806404] Chr16:16188971 [GRCh38]
Chr16:16282828 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2921A>G (p.Asp974Gly) single nucleotide variant not provided [RCV002646544] Chr16:16169720 [GRCh38]
Chr16:16263577 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3992C>T (p.Ala1331Val) single nucleotide variant Inborn genetic diseases [RCV003090639]|not provided [RCV003072290] Chr16:16154922 [GRCh38]
Chr16:16248779 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2787+13_2787+16dup duplication not provided [RCV002899596] Chr16:16173267..16173268 [GRCh38]
Chr16:16267124..16267125 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3846G>T (p.Val1282=) single nucleotide variant not provided [RCV002811156] Chr16:16157699 [GRCh38]
Chr16:16251556 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1315G>A (p.Val439Ile) single nucleotide variant not provided [RCV002646444] Chr16:16198044 [GRCh38]
Chr16:16291901 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3810T>C (p.Phe1270=) single nucleotide variant not provided [RCV003044394] Chr16:16157735 [GRCh38]
Chr16:16251592 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3416C>T (p.Ala1139Val) single nucleotide variant not provided [RCV003062073] Chr16:16163083 [GRCh38]
Chr16:16256940 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2316T>C (p.Ala772=) single nucleotide variant not provided [RCV002629400] Chr16:16178897 [GRCh38]
Chr16:16272754 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1374C>T (p.Val458=) single nucleotide variant not provided [RCV002720962] Chr16:16192887 [GRCh38]
Chr16:16286744 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1283A>G (p.Asn428Ser) single nucleotide variant not provided [RCV003064328] Chr16:16198076 [GRCh38]
Chr16:16291933 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3593G>A (p.Ser1198Asn) single nucleotide variant not provided [RCV002715001] Chr16:16161478 [GRCh38]
Chr16:16255335 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2960G>A (p.Arg987His) single nucleotide variant not provided [RCV003064814] Chr16:16169681 [GRCh38]
Chr16:16263538 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2248-7G>A single nucleotide variant not provided [RCV002580651] Chr16:16178972 [GRCh38]
Chr16:16272829 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.35G>A (p.Gly12Glu) single nucleotide variant Inborn genetic diseases [RCV002769396] Chr16:16223400 [GRCh38]
Chr16:16317257 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.607T>C (p.Cys203Arg) single nucleotide variant Inborn genetic diseases [RCV002960619] Chr16:16212240 [GRCh38]
Chr16:16306097 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1867G>A (p.Ala623Thr) single nucleotide variant not provided [RCV002580331] Chr16:16187124 [GRCh38]
Chr16:16280981 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1339-13C>T single nucleotide variant not provided [RCV003031396] Chr16:16192935 [GRCh38]
Chr16:16286792 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4179C>T (p.Tyr1393=) single nucleotide variant not provided [RCV003065824] Chr16:16154657 [GRCh38]
Chr16:16248514 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3989T>C (p.Ile1330Thr) single nucleotide variant not provided [RCV002933928] Chr16:16154925 [GRCh38]
Chr16:16248782 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3941G>T (p.Arg1314Leu) single nucleotide variant not provided [RCV002899489] Chr16:16154973 [GRCh38]
Chr16:16248830 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.4252C>T (p.Arg1418Trp) single nucleotide variant not provided [RCV003061261] Chr16:16150729 [GRCh38]
Chr16:16244586 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.392A>G (p.Gln131Arg) single nucleotide variant Inborn genetic diseases [RCV002961283]|not provided [RCV003420482] Chr16:16219636 [GRCh38]
Chr16:16313493 [GRCh37]
Chr16:16p13.11		 likely benign|uncertain significance
NM_001171.6(ABCC6):c.1999G>T (p.Ala667Ser) single nucleotide variant not provided [RCV002856322] Chr16:16182875 [GRCh38]
Chr16:16276732 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2071-18A>C single nucleotide variant not provided [RCV003027505] Chr16:16182606 [GRCh38]
Chr16:16276463 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4402C>G (p.Arg1468Gly) single nucleotide variant not provided [RCV002937534] Chr16:16150579 [GRCh38]
Chr16:16244436 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3691G>T (p.Val1231Leu) single nucleotide variant not provided [RCV002604559] Chr16:16159526 [GRCh38]
Chr16:16253383 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3159C>A (p.Asp1053Glu) single nucleotide variant not provided [RCV002603752] Chr16:16165770 [GRCh38]
Chr16:16259627 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2427C>T (p.Leu809=) single nucleotide variant not provided [RCV002583062] Chr16:16177615 [GRCh38]
Chr16:16271472 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3306+4C>T single nucleotide variant not provided [RCV002633215] Chr16:16165619 [GRCh38]
Chr16:16259476 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1605G>A (p.Ser535=) single nucleotide variant not provided [RCV002653991] Chr16:16190194 [GRCh38]
Chr16:16284051 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1269C>T (p.Ser423=) single nucleotide variant not provided [RCV003092904] Chr16:16198090 [GRCh38]
Chr16:16291947 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1545G>C (p.Leu515=) single nucleotide variant not provided [RCV002653605] Chr16:16190254 [GRCh38]
Chr16:16284111 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4236G>A (p.Leu1412=) single nucleotide variant not provided [RCV002634814] Chr16:16150745 [GRCh38]
Chr16:16244602 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4165G>A (p.Gly1389Ser) single nucleotide variant not provided [RCV003069633] Chr16:16154671 [GRCh38]
Chr16:16248528 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4445G>C (p.Ser1482Thr) single nucleotide variant not provided [RCV002653270] Chr16:16150200 [GRCh38]
Chr16:16244057 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4209C>G (p.Ser1403Arg) single nucleotide variant not provided [RCV003051770] Chr16:16150772 [GRCh38]
Chr16:16244629 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2796C>A (p.Ala932=) single nucleotide variant not provided [RCV003032160] Chr16:16169845 [GRCh38]
Chr16:16263702 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4402C>T (p.Arg1468Trp) single nucleotide variant not provided [RCV002634709] Chr16:16150579 [GRCh38]
Chr16:16244436 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3046G>T (p.Ala1016Ser) single nucleotide variant not provided [RCV003050271] Chr16:16165883 [GRCh38]
Chr16:16259740 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1771C>G (p.Leu591Val) single nucleotide variant not provided [RCV002634585] Chr16:16188839 [GRCh38]
Chr16:16282696 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4041+19G>A single nucleotide variant not provided [RCV002943472] Chr16:16154854 [GRCh38]
Chr16:16248711 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2818C>T (p.Arg940Cys) single nucleotide variant not provided [RCV002606370] Chr16:16169823 [GRCh38]
Chr16:16263680 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1943+10G>A single nucleotide variant not provided [RCV003072510] Chr16:16184949 [GRCh38]
Chr16:16278806 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4403+20C>G single nucleotide variant not provided [RCV002609434] Chr16:16150558 [GRCh38]
Chr16:16244415 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3786C>T (p.Gly1262=) single nucleotide variant not provided [RCV003070286] Chr16:16157759 [GRCh38]
Chr16:16251616 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3567T>C (p.Cys1189=) single nucleotide variant not provided [RCV002584977] Chr16:16161504 [GRCh38]
Chr16:16255361 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3483T>C (p.Ser1161=) single nucleotide variant not provided [RCV002585873] Chr16:16163016 [GRCh38]
Chr16:16256873 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1369G>A (p.Ala457Thr) single nucleotide variant not provided [RCV002585917] Chr16:16192892 [GRCh38]
Chr16:16286749 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3713A>T (p.Asp1238Val) single nucleotide variant not provided [RCV002589217] Chr16:16159504 [GRCh38]
Chr16:16253361 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1432-4C>T single nucleotide variant not provided [RCV002589228] Chr16:16190371 [GRCh38]
Chr16:16284228 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3652T>C (p.Trp1218Arg) single nucleotide variant not provided [RCV002608506] Chr16:16159565 [GRCh38]
Chr16:16253422 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3634-15G>C single nucleotide variant not provided [RCV002586929] Chr16:16159598 [GRCh38]
Chr16:16253455 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4080C>T (p.Leu1360=) single nucleotide variant not provided [RCV002608604] Chr16:16154756 [GRCh38]
Chr16:16248613 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3256_3257dup (p.Ala1087fs) duplication not provided [RCV002606823] Chr16:16165671..16165672 [GRCh38]
Chr16:16259528..16259529 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1647G>C (p.Val549=) single nucleotide variant not provided [RCV002587961] Chr16:16188963 [GRCh38]
Chr16:16282820 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1674C>T (p.Ala558=) single nucleotide variant not provided [RCV002610108] Chr16:16188936 [GRCh38]
Chr16:16282793 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3035G>A (p.Gly1012Asp) single nucleotide variant not provided [RCV002725669] Chr16:16165894 [GRCh38]
Chr16:16259751 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3435C>G (p.Pro1145=) single nucleotide variant not provided [RCV002608758] Chr16:16163064 [GRCh38]
Chr16:16256921 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3824G>A (p.Arg1275Gln) single nucleotide variant not provided [RCV002608930] Chr16:16157721 [GRCh38]
Chr16:16251578 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1779+18G>A single nucleotide variant not provided [RCV002587380] Chr16:16188813 [GRCh38]
Chr16:16282670 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3783G>A (p.Gln1261=) single nucleotide variant not provided [RCV002613113] Chr16:16157762 [GRCh38]
Chr16:16251619 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.301G>T (p.Ala101Ser) single nucleotide variant Inborn genetic diseases [RCV002680620] Chr16:16219866 [GRCh38]
Chr16:16313723 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2590+13C>T single nucleotide variant not provided [RCV002583761] Chr16:16177439 [GRCh38]
Chr16:16271296 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2544G>A (p.Met848Ile) single nucleotide variant not provided [RCV002611477] Chr16:16177498 [GRCh38]
Chr16:16271355 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4011A>G (p.Thr1337=) single nucleotide variant not provided [RCV002589168] Chr16:16154903 [GRCh38]
Chr16:16248760 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3044G>A (p.Arg1015Gln) single nucleotide variant Inborn genetic diseases [RCV002589248]|not provided [RCV002589247] Chr16:16165885 [GRCh38]
Chr16:16259742 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3139C>T (p.Arg1047Cys) single nucleotide variant not provided [RCV002608149] Chr16:16165790 [GRCh38]
Chr16:16259647 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3603C>T (p.Leu1201=) single nucleotide variant not provided [RCV002658430] Chr16:16161468 [GRCh38]
Chr16:16255325 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2788-12T>C single nucleotide variant not provided [RCV002587472] Chr16:16169865 [GRCh38]
Chr16:16263722 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1057G>A (p.Ala353Thr) single nucleotide variant ABCC6-related condition [RCV003420477]|Inborn genetic diseases [RCV002944934] Chr16:16202120 [GRCh38]
Chr16:16295977 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2737C>A (p.Pro913Thr) single nucleotide variant not provided [RCV003070308] Chr16:16173334 [GRCh38]
Chr16:16267191 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4208+11C>T single nucleotide variant not provided [RCV002635521] Chr16:16154617 [GRCh38]
Chr16:16248474 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2818C>A (p.Arg940Ser) single nucleotide variant not provided [RCV002608450] Chr16:16169823 [GRCh38]
Chr16:16263680 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1600G>T (p.Val534Leu) single nucleotide variant Inborn genetic diseases [RCV002589853]|not provided [RCV002589852] Chr16:16190199 [GRCh38]
Chr16:16284056 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3208G>A (p.Ala1070Thr) single nucleotide variant not provided [RCV003092208] Chr16:16165721 [GRCh38]
Chr16:16259578 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1278C>T (p.Tyr426=) single nucleotide variant not provided [RCV002610434] Chr16:16198081 [GRCh38]
Chr16:16291938 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4197C>T (p.Gly1399=) single nucleotide variant not provided [RCV003070988] Chr16:16154639 [GRCh38]
Chr16:16248496 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3883-2_3883-1del deletion not provided [RCV003132723] Chr16:16155032..16155033 [GRCh38]
Chr16:16248889..16248890 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.4006C>A (p.His1336Asn) single nucleotide variant Inborn genetic diseases [RCV003196062] Chr16:16154908 [GRCh38]
Chr16:16248765 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.829G>A (p.Gly277Ser) single nucleotide variant Inborn genetic diseases [RCV003204798] Chr16:16203579 [GRCh38]
Chr16:16297436 [GRCh37]
Chr16:16p13.11		 likely benign
NC_000016.10:g.14683149_16205174dup duplication not specified [RCV003225664] Chr16:14683149..16205174 [GRCh38]
Chr16:16p13.12-13.11		 uncertain significance
NM_001171.6(ABCC6):c.3506+1G>A single nucleotide variant not provided [RCV003134871] Chr16:16162992 [GRCh38]
Chr16:16256849 [GRCh37]
Chr16:16p13.11		 pathogenic|likely pathogenic
GRCh38/hg38 16p13.11(chr16:14816348-16678513) copy number gain Anomalous pulmonary venous return [RCV003223578] Chr16:14816348..16678513 [GRCh38]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3367G>C (p.Val1123Leu) single nucleotide variant Inborn genetic diseases [RCV003205151] Chr16:16163132 [GRCh38]
Chr16:16256989 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1297C>T (p.Pro433Ser) single nucleotide variant Inborn genetic diseases [RCV003286344] Chr16:16198062 [GRCh38]
Chr16:16291919 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3 copy number gain 16p13.11 microduplication syndrome [RCV003329524] Chr16:15125542..16388672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1 copy number loss Autosomal recessive inherited pseudoxanthoma elasticum [RCV003329506] Chr16:15475455..16308356 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329551] Chr16:15489453..18321582 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1 copy number loss 16p13.11 microdeletion syndrome [RCV003329546] Chr16:14853752..16666672 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16248485-16259790)x1 copy number loss not provided [RCV003326950] Chr16:16248485..16259790 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.314T>C (p.Leu105Pro) single nucleotide variant Inborn genetic diseases [RCV003356551] Chr16:16219853 [GRCh38]
Chr16:16313710 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.302C>G (p.Ala101Gly) single nucleotide variant Inborn genetic diseases [RCV003361528] Chr16:16219865 [GRCh38]
Chr16:16313722 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2669C>T (p.Ser890Phe) single nucleotide variant Inborn genetic diseases [RCV003371478] Chr16:16173402 [GRCh38]
Chr16:16267259 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4234C>T (p.Leu1412=) single nucleotide variant not provided [RCV003543096] Chr16:16150747 [GRCh38]
Chr16:16244604 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1782C>A (p.Ala594=) single nucleotide variant not provided [RCV003872998] Chr16:16187209 [GRCh38]
Chr16:16281066 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2070+10C>T single nucleotide variant not provided [RCV003569220] Chr16:16182794 [GRCh38]
Chr16:16276651 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4042-16C>T single nucleotide variant not provided [RCV003873032] Chr16:16154810 [GRCh38]
Chr16:16248667 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1644G>A (p.Leu548=) single nucleotide variant not provided [RCV003873062] Chr16:16188966 [GRCh38]
Chr16:16282823 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2736C>T (p.Asp912=) single nucleotide variant not provided [RCV003569961] Chr16:16173335 [GRCh38]
Chr16:16267192 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3 copy number gain not provided [RCV003485099] Chr16:15058821..16837613 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15481748-16391045)x1 copy number loss not provided [RCV003483279] Chr16:15481748..16391045 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16059881-16309165)x3 copy number gain not provided [RCV003485104] Chr16:16059881..16309165 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.982_988delinsTTCCCC (p.Val328fs) indel ABCC6-related condition [RCV003397252] Chr16:16203420..16203426 [GRCh38]
Chr16:16297277..16297283 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3 copy number gain not provided [RCV003456960] Chr16:15460510..16443142 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509592-16873547)x3 copy number gain not provided [RCV003485103] Chr16:15509592..16873547 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1 copy number loss not provided [RCV003483276] Chr16:15324776..16294705 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1 copy number loss not provided [RCV003483277] Chr16:15358446..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1 copy number loss not provided [RCV003483278] Chr16:15450290..16458408 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3 copy number gain not provided [RCV003485098] Chr16:15054346..16309165 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:15507899-16388359)x3 copy number gain not provided [RCV003485101] Chr16:15507899..16388359 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15509407-18779589)x3 copy number gain not provided [RCV003485102] Chr16:15509407..18779589 [GRCh37]
Chr16:16p13.11-12.3		 likely pathogenic
NM_001171.6(ABCC6):c.2151G>A (p.Leu717=) single nucleotide variant not provided [RCV003457248] Chr16:16182508 [GRCh38]
Chr16:16276365 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3883-46A>G single nucleotide variant not provided [RCV003411280] Chr16:16155077 [GRCh38]
Chr16:16248934 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.4245C>T (p.Ala1415=) single nucleotide variant not provided [RCV003417663] Chr16:16150736 [GRCh38]
Chr16:16244593 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1 copy number loss not provided [RCV003419542] Chr16:14927709..16364041 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4242dup (p.Ala1415fs) duplication ABCC6-related condition [RCV003406131] Chr16:16150738..16150739 [GRCh38]
Chr16:16244595..16244596 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2959C>T (p.Arg987Cys) single nucleotide variant ABCC6-related condition [RCV003414123] Chr16:16169682 [GRCh38]
Chr16:16263539 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4042-14C>A single nucleotide variant not provided [RCV003694556] Chr16:16154808 [GRCh38]
Chr16:16248665 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3633+19A>G single nucleotide variant not provided [RCV003695662] Chr16:16161419 [GRCh38]
Chr16:16255276 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4095G>A (p.Glu1365=) single nucleotide variant not provided [RCV003825908] Chr16:16154741 [GRCh38]
Chr16:16248598 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3507-2A>G single nucleotide variant not provided [RCV003663285] Chr16:16161566 [GRCh38]
Chr16:16255423 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1835C>T (p.Pro612Leu) single nucleotide variant not provided [RCV003662124] Chr16:16187156 [GRCh38]
Chr16:16281013 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1277dup (p.Tyr426Ter) duplication not provided [RCV003578600] Chr16:16198081..16198082 [GRCh38]
Chr16:16291938..16291939 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4209-6T>C single nucleotide variant not provided [RCV003696565] Chr16:16150778 [GRCh38]
Chr16:16244635 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1944-16C>T single nucleotide variant not provided [RCV003572279] Chr16:16182946 [GRCh38]
Chr16:16276803 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2934T>G (p.Gly978=) single nucleotide variant not provided [RCV003691915] Chr16:16169707 [GRCh38]
Chr16:16263564 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4403+17G>A single nucleotide variant not provided [RCV003882007] Chr16:16150561 [GRCh38]
Chr16:16244418 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1186C>T (p.Leu396=) single nucleotide variant not provided [RCV003695585] Chr16:16198173 [GRCh38]
Chr16:16292030 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3735+9C>A single nucleotide variant not provided [RCV003662929] Chr16:16159473 [GRCh38]
Chr16:16253330 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191) copy number loss Autism spectrum disorder [RCV003883423] Chr16:15184811..18708191 [GRCh38]
Chr16:16p13.11-12.3		 pathogenic
GRCh38/hg38 16p13.11(chr16:15399656-16194269) copy number loss Autism spectrum disorder [RCV003883417] Chr16:15399656..16194269 [GRCh38]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2061G>A (p.Val687=) single nucleotide variant not provided [RCV003712993] Chr16:16182813 [GRCh38]
Chr16:16276670 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3736-12C>G single nucleotide variant not provided [RCV003578991] Chr16:16157821 [GRCh38]
Chr16:16251678 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2079G>T (p.Val693=) single nucleotide variant not provided [RCV003689939] Chr16:16182580 [GRCh38]
Chr16:16276437 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2403A>G (p.Leu801=) single nucleotide variant not provided [RCV003573336] Chr16:16178810 [GRCh38]
Chr16:16272667 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4050C>T (p.Ile1350=) single nucleotide variant not provided [RCV003878146] Chr16:16154786 [GRCh38]
Chr16:16248643 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4113C>T (p.Ile1371=) single nucleotide variant not provided [RCV003713598] Chr16:16154723 [GRCh38]
Chr16:16248580 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1755del (p.Phe586fs) deletion not provided [RCV003578100] Chr16:16188855 [GRCh38]
Chr16:16282712 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2787+20A>G single nucleotide variant not provided [RCV003696193] Chr16:16173264 [GRCh38]
Chr16:16267121 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3264T>G (p.Thr1088=) single nucleotide variant not provided [RCV003690066] Chr16:16165665 [GRCh38]
Chr16:16259522 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2464_2465del (p.Trp822fs) deletion not provided [RCV003689207] Chr16:16177577..16177578 [GRCh38]
Chr16:16271434..16271435 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1338+11G>A single nucleotide variant not provided [RCV003696030] Chr16:16198010 [GRCh38]
Chr16:16291867 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3675C>T (p.Asp1225=) single nucleotide variant not provided [RCV003575930] Chr16:16159542 [GRCh38]
Chr16:16253399 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3634-20G>A single nucleotide variant not provided [RCV003690415] Chr16:16159603 [GRCh38]
Chr16:16253460 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1431+11del deletion not provided [RCV003826920] Chr16:16192819 [GRCh38]
Chr16:16286676 [GRCh37]
Chr16:16p13.11		 benign
NM_001171.6(ABCC6):c.1339-19C>G single nucleotide variant not provided [RCV003662315] Chr16:16192941 [GRCh38]
Chr16:16286798 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2448C>T (p.Ile816=) single nucleotide variant not provided [RCV003715608] Chr16:16177594 [GRCh38]
Chr16:16271451 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3306+7A>C single nucleotide variant not provided [RCV003686554] Chr16:16165616 [GRCh38]
Chr16:16259473 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2433G>A (p.Thr811=) single nucleotide variant not provided [RCV003827039] Chr16:16177609 [GRCh38]
Chr16:16271466 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3506+12C>T single nucleotide variant not provided [RCV003575185] Chr16:16162981 [GRCh38]
Chr16:16256838 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2262C>T (p.Ser754=) single nucleotide variant not provided [RCV003811735] Chr16:16178951 [GRCh38]
Chr16:16272808 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3427del (p.Gln1143fs) deletion not provided [RCV003836145] Chr16:16163072 [GRCh38]
Chr16:16256929 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2004G>C (p.Gly668=) single nucleotide variant not provided [RCV003699881] Chr16:16182870 [GRCh38]
Chr16:16276727 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3446A>C (p.Gln1149Pro) single nucleotide variant not provided [RCV003832048] Chr16:16163053 [GRCh38]
Chr16:16256910 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2631C>T (p.Thr877=) single nucleotide variant not provided [RCV003580873] Chr16:16175946 [GRCh38]
Chr16:16269803 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4149G>A (p.Leu1383=) single nucleotide variant not provided [RCV003834480] Chr16:16154687 [GRCh38]
Chr16:16248544 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4041+16G>C single nucleotide variant not provided [RCV003667415] Chr16:16154857 [GRCh38]
Chr16:16248714 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2535G>A (p.Gly845=) single nucleotide variant not provided [RCV003549796] Chr16:16177507 [GRCh38]
Chr16:16271364 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4070G>T (p.Arg1357Leu) single nucleotide variant not provided [RCV003668907] Chr16:16154766 [GRCh38]
Chr16:16248623 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.1878G>A (p.Lys626=) single nucleotide variant not provided [RCV003723762] Chr16:16185024 [GRCh38]
Chr16:16278881 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3690C>A (p.Ile1230=) single nucleotide variant not provided [RCV003855187] Chr16:16159527 [GRCh38]
Chr16:16253384 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3453T>C (p.Asn1151=) single nucleotide variant not provided [RCV003855871] Chr16:16163046 [GRCh38]
Chr16:16256903 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1731C>T (p.Leu577=) single nucleotide variant not provided [RCV003855929] Chr16:16188879 [GRCh38]
Chr16:16282736 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1584C>T (p.Ser528=) single nucleotide variant not provided [RCV003559253] Chr16:16190215 [GRCh38]
Chr16:16284072 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1956G>C (p.Thr652=) single nucleotide variant not provided [RCV003670949] Chr16:16182918 [GRCh38]
Chr16:16276775 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2967G>C (p.Gly989=) single nucleotide variant not provided [RCV003838232] Chr16:16169674 [GRCh38]
Chr16:16263531 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3934C>T (p.Leu1312=) single nucleotide variant not provided [RCV003671459] Chr16:16154980 [GRCh38]
Chr16:16248837 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1177-12C>T single nucleotide variant not provided [RCV003667705] Chr16:16198194 [GRCh38]
Chr16:16292051 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2781C>G (p.Tyr927Ter) single nucleotide variant not provided [RCV003667613] Chr16:16173290 [GRCh38]
Chr16:16267147 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3304C>T (p.Gln1102Ter) single nucleotide variant not provided [RCV003702007] Chr16:16165625 [GRCh38]
Chr16:16259482 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4371C>T (p.Ala1457=) single nucleotide variant not provided [RCV003671663] Chr16:16150610 [GRCh38]
Chr16:16244467 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3804G>A (p.Arg1268=) single nucleotide variant not provided [RCV003665686] Chr16:16157741 [GRCh38]
Chr16:16251598 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2511C>T (p.Tyr837=) single nucleotide variant not provided [RCV003678092] Chr16:16177531 [GRCh38]
Chr16:16271388 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2995+12C>T single nucleotide variant not provided [RCV003846275] Chr16:16169634 [GRCh38]
Chr16:16263491 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3549G>A (p.Val1183=) single nucleotide variant not provided [RCV003853919] Chr16:16161522 [GRCh38]
Chr16:16255379 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1780-10G>T single nucleotide variant not provided [RCV003729799] Chr16:16187221 [GRCh38]
Chr16:16281078 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3342C>A (p.Arg1114=) single nucleotide variant not provided [RCV003707380] Chr16:16163157 [GRCh38]
Chr16:16257014 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2416-5C>T single nucleotide variant not provided [RCV003556815] Chr16:16177631 [GRCh38]
Chr16:16271488 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3348G>C (p.Glu1116Asp) single nucleotide variant not provided [RCV003674561] Chr16:16163151 [GRCh38]
Chr16:16257008 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4131G>A (p.Thr1377=) single nucleotide variant not provided [RCV003734808] Chr16:16154705 [GRCh38]
Chr16:16248562 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1749C>T (p.Phe583=) single nucleotide variant not provided [RCV003703975] Chr16:16188861 [GRCh38]
Chr16:16282718 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3307-10T>C single nucleotide variant not provided [RCV003710634] Chr16:16163202 [GRCh38]
Chr16:16257059 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3835_3838del (p.Pro1279fs) deletion not provided [RCV003677993] Chr16:16157707..16157710 [GRCh38]
Chr16:16251564..16251567 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2328G>A (p.Leu776=) single nucleotide variant not provided [RCV003682334] Chr16:16178885 [GRCh38]
Chr16:16272742 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2070+12C>T single nucleotide variant not provided [RCV003848026] Chr16:16182792 [GRCh38]
Chr16:16276649 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3795C>A (p.Ile1265=) single nucleotide variant not provided [RCV003860608] Chr16:16157750 [GRCh38]
Chr16:16251607 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3817A>C (p.Arg1273=) single nucleotide variant not provided [RCV003551245] Chr16:16157728 [GRCh38]
Chr16:16251585 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2995+14G>A single nucleotide variant not provided [RCV003683120] Chr16:16169632 [GRCh38]
Chr16:16263489 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4041+17G>A single nucleotide variant not provided [RCV003840705] Chr16:16154856 [GRCh38]
Chr16:16248713 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2294G>C (p.Arg765Pro) single nucleotide variant not provided [RCV003730932] Chr16:16178919 [GRCh38]
Chr16:16272776 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3726G>A (p.Thr1242=) single nucleotide variant not provided [RCV003731199] Chr16:16159491 [GRCh38]
Chr16:16253348 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2071-2A>T single nucleotide variant not provided [RCV003728106] Chr16:16182590 [GRCh38]
Chr16:16276447 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.3506+22A>T single nucleotide variant ABCC6-related condition [RCV003939658] Chr16:16162971 [GRCh38]
Chr16:16256828 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15516148-16289059)x3 copy number gain not specified [RCV003986318] Chr16:15516148..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
NM_001171.6(ABCC6):c.2787+17C>A single nucleotide variant not provided [RCV003552403] Chr16:16173267 [GRCh38]
Chr16:16267124 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3 copy number gain not specified [RCV003986319] Chr16:15126890..16289059 [GRCh37]
Chr16:16p13.11		 likely pathogenic|low penetrance
NM_001171.6(ABCC6):c.2068G>T (p.Glu690Ter) single nucleotide variant not provided [RCV003684925] Chr16:16182806 [GRCh38]
Chr16:16276663 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1432-13C>T single nucleotide variant not provided [RCV003705792] Chr16:16190380 [GRCh38]
Chr16:16284237 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2670C>T (p.Ser890=) single nucleotide variant not provided [RCV003869143] Chr16:16173401 [GRCh38]
Chr16:16267258 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1300C>G (p.Leu434Val) single nucleotide variant not provided [RCV003867088] Chr16:16198059 [GRCh38]
Chr16:16291916 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.1953C>G (p.Leu651=) single nucleotide variant not provided [RCV003684825] Chr16:16182921 [GRCh38]
Chr16:16276778 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1868-9G>A single nucleotide variant not provided [RCV003678228] Chr16:16185043 [GRCh38]
Chr16:16278900 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1355C>A (p.Ala452Asp) single nucleotide variant not provided [RCV003726999] Chr16:16192906 [GRCh38]
Chr16:16286763 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.3385G>A (p.Glu1129Lys) single nucleotide variant not provided [RCV003707940] Chr16:16163114 [GRCh38]
Chr16:16256971 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3939G>T (p.Leu1313=) single nucleotide variant not provided [RCV003722815] Chr16:16154975 [GRCh38]
Chr16:16248832 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:16247252-16258179)x1 copy number loss not specified [RCV003987136] Chr16:16247252..16258179 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3 copy number gain not specified [RCV003987137] Chr16:14906734..16516109 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2551C>T (p.Leu851=) single nucleotide variant not provided [RCV003723105] Chr16:16177491 [GRCh38]
Chr16:16271348 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3 copy number gain not specified [RCV003987147] Chr16:14892880..16494783 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2406C>T (p.Leu802=) single nucleotide variant not provided [RCV003712252] Chr16:16178807 [GRCh38]
Chr16:16272664 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3 copy number gain not specified [RCV003987171] Chr16:14892713..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1308G>A (p.Trp436Ter) single nucleotide variant not provided [RCV003853833] Chr16:16198051 [GRCh38]
Chr16:16291908 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.4440C>T (p.Ser1480=) single nucleotide variant not provided [RCV003721642] Chr16:16150205 [GRCh38]
Chr16:16244062 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4383C>T (p.Arg1461=) single nucleotide variant not provided [RCV003679417] Chr16:16150598 [GRCh38]
Chr16:16244455 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1444A>C (p.Arg482=) single nucleotide variant not provided [RCV003683341] Chr16:16190355 [GRCh38]
Chr16:16284212 [GRCh37]
Chr16:16p13.11		 likely benign
GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3 copy number gain not specified [RCV003987170] Chr16:14866283..16544419 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16257679)x1 copy number loss not specified [RCV003987177] Chr16:16247252..16257679 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4069C>A (p.Arg1357=) single nucleotide variant not provided [RCV003567524] Chr16:16154767 [GRCh38]
Chr16:16248624 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3621T>C (p.Ser1207=) single nucleotide variant not provided [RCV003567689] Chr16:16161450 [GRCh38]
Chr16:16255307 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4033A>T (p.Ile1345Phe) single nucleotide variant not provided [RCV003567149] Chr16:16154881 [GRCh38]
Chr16:16248738 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.4042-17C>A single nucleotide variant not provided [RCV003568803] Chr16:16154811 [GRCh38]
Chr16:16248668 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2338C>T (p.Leu780=) single nucleotide variant not provided [RCV003682519] Chr16:16178875 [GRCh38]
Chr16:16272732 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2229C>T (p.His743=) single nucleotide variant not provided [RCV003683605] Chr16:16182430 [GRCh38]
Chr16:16276287 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3634-17A>G single nucleotide variant not provided [RCV003847751] Chr16:16159600 [GRCh38]
Chr16:16253457 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3630C>T (p.Leu1210=) single nucleotide variant not provided [RCV003824156] Chr16:16161441 [GRCh38]
Chr16:16255298 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2095G>C (p.Glu699Gln) single nucleotide variant not provided [RCV003563401] Chr16:16182564 [GRCh38]
Chr16:16276421 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.3349T>C (p.Ser1117Pro) single nucleotide variant not provided [RCV003704965] Chr16:16163150 [GRCh38]
Chr16:16257007 [GRCh37]
Chr16:16p13.11		 likely pathogenic
NM_001171.6(ABCC6):c.2644A>C (p.Arg882=) single nucleotide variant not provided [RCV003841744] Chr16:16175933 [GRCh38]
Chr16:16269790 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2365C>T (p.Gln789Ter) single nucleotide variant not provided [RCV003674673] Chr16:16178848 [GRCh38]
Chr16:16272705 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.1551C>T (p.Ile517=) single nucleotide variant not provided [RCV003677122] Chr16:16190248 [GRCh38]
Chr16:16284105 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1334G>A (p.Trp445Ter) single nucleotide variant not provided [RCV003680123] Chr16:16198025 [GRCh38]
Chr16:16291882 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2306G>C (p.Arg769Thr) single nucleotide variant not provided [RCV003857197] Chr16:16178907 [GRCh38]
Chr16:16272764 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.2044_2045del (p.Lys682fs) deletion not provided [RCV003551551] Chr16:16182829..16182830 [GRCh38]
Chr16:16276686..16276687 [GRCh37]
Chr16:16p13.11		 pathogenic
NM_001171.6(ABCC6):c.2043A>G (p.Ser681=) single nucleotide variant not provided [RCV003551552] Chr16:16182831 [GRCh38]
Chr16:16276688 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4042-20C>A single nucleotide variant not provided [RCV003861965] Chr16:16154814 [GRCh38]
Chr16:16248671 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.4484G>C (p.Arg1495Thr) single nucleotide variant not provided [RCV003706795] Chr16:16150161 [GRCh38]
Chr16:16244018 [GRCh37]
Chr16:16p13.11		 uncertain significance
NM_001171.6(ABCC6):c.4015C>A (p.Arg1339Ser) single nucleotide variant not provided [RCV003866676] Chr16:16154899 [GRCh38]
Chr16:16248756 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11(chr16:16247252-16262036)x1 copy number loss not specified [RCV003987135] Chr16:16247252..16262036 [GRCh37]
Chr16:16p13.11		 pathogenic
GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3 copy number gain not provided [RCV003885472] Chr16:14858860..16367932 [GRCh37]
Chr16:16p13.11		 likely pathogenic
GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1 copy number loss not provided [RCV003885475] Chr16:15458733..18188719 [GRCh37]
Chr16:16p13.11-12.3		 pathogenic
NM_001171.6(ABCC6):c.4123C>T (p.Leu1375=) single nucleotide variant ABCC6-related condition [RCV003981740] Chr16:16154713 [GRCh38]
Chr16:16248570 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3816A>C (p.Leu1272=) single nucleotide variant ABCC6-related condition [RCV003942024] Chr16:16157729 [GRCh38]
Chr16:16251586 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.117A>G (p.Val39=) single nucleotide variant not provided [RCV003884857] Chr16:16221751 [GRCh38]
Chr16:16315608 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.2256T>C (p.Asn752=) single nucleotide variant ABCC6-related condition [RCV003944361] Chr16:16178957 [GRCh38]
Chr16:16272814 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.3506+21G>A single nucleotide variant ABCC6-related condition [RCV003901979] Chr16:16162972 [GRCh38]
Chr16:16256829 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.1780-36T>A single nucleotide variant ABCC6-related condition [RCV003933926] Chr16:16187247 [GRCh38]
Chr16:16281104 [GRCh37]
Chr16:16p13.11		 likely benign
NM_001171.6(ABCC6):c.219+35A>G single nucleotide variant ABCC6-related condition [RCV003902123] Chr16:16221614 [GRCh38]
Chr16:16315471 [GRCh37]
Chr16:16p13.11		 uncertain significance
GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1 copy number loss not provided [RCV003885473] Chr16:14927578..16481355 [GRCh37]
Chr16:16p13.11		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2559
Count of miRNA genes:1104
Interacting mature miRNAs:1355
Transcripts:ENST00000205557, ENST00000456970, ENST00000574094, ENST00000575728, ENST00000576204, ENST00000576683, ENST00000577103
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
RH70947  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,243,820 - 16,243,977UniSTSGRCh37
Build 361616,151,321 - 16,151,478RGDNCBI36
Celera1615,923,980 - 15,924,137RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,637,804 - 15,637,961UniSTS
GeneMap99-GB4 RH Map16176.35UniSTS
NCBI RH Map16139.9UniSTS
RH103419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,243,743 - 16,243,875UniSTSGRCh37
Build 361616,151,244 - 16,151,376RGDNCBI36
Celera1615,923,903 - 15,924,035RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,637,727 - 15,637,859UniSTS
GeneMap99-GB4 RH Map16167.48UniSTS
G67881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,248,605 - 16,248,804UniSTSGRCh37
Build 361616,156,106 - 16,156,305RGDNCBI36
Celera1615,928,767 - 15,928,966RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,642,622 - 15,642,821UniSTS
STS-X95715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,243,786 - 16,243,987UniSTSGRCh37
Build 361616,151,287 - 16,151,488RGDNCBI36
Celera1615,923,946 - 15,924,147RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,637,770 - 15,637,971UniSTS
GeneMap99-GB4 RH Map16163.47UniSTS
NCBI RH Map16152.4UniSTS
99-4448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371616,284,822 - 16,285,420UniSTSGRCh37
Build 361616,192,323 - 16,192,921RGDNCBI36
Celera1615,964,855 - 15,965,452RGD
Cytogenetic Map16p13.1UniSTS
HuRef1615,679,307 - 15,679,904UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
A007L01  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map16p13.11UniSTS
GeneMap99-GB4 RH Map16164.14UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 48 1 442 420 23 420 12 2 118 13 113 24 2
Low 2020 1614 1076 182 808 36 2530 1206 1028 225 1033 1382 149 1024 1612 1
Below cutoff 361 1364 203 20 1079 8 1796 979 2678 70 398 100 21 156 1174 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC136624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF076622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF168791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI074459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM711638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM774324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY078405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC361874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U91318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000205557   ⟹   ENSP00000205557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,149,565 - 16,223,494 (-)Ensembl
RefSeq Acc Id: ENST00000456970   ⟹   ENSP00000405002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,150,133 - 16,223,434 (-)Ensembl
RefSeq Acc Id: ENST00000574094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,194,672 - 16,223,469 (-)Ensembl
RefSeq Acc Id: ENST00000575728   ⟹   ENSP00000461686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,221,187 - 16,223,467 (-)Ensembl
RefSeq Acc Id: ENST00000576204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,154,730 - 16,155,776 (-)Ensembl
RefSeq Acc Id: ENST00000576683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,173,082 - 16,177,521 (-)Ensembl
RefSeq Acc Id: ENST00000577103   ⟹   ENSP00000459243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,202,000 - 16,223,522 (-)Ensembl
RefSeq Acc Id: ENST00000622290   ⟹   ENSP00000483331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,149,565 - 16,223,494 (-)Ensembl
RefSeq Acc Id: ENST00000640696   ⟹   ENSP00000492197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1616,149,566 - 16,165,943 (-)Ensembl
RefSeq Acc Id: NM_001079528   ⟹   NP_001072996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,221,187 - 16,223,471 (-)NCBI
GRCh371616,243,422 - 16,318,083 (-)NCBI
Build 361616,222,545 - 16,224,838 (-)NCBI Archive
HuRef1617,226,645 - 17,228,924 (+)NCBI
CHM1_11618,669,848 - 18,672,131 (+)NCBI
T2T-CHM13v2.01616,226,696 - 16,228,980 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001171   ⟹   NP_001162
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,149,565 - 16,223,494 (-)NCBI
GRCh371616,243,422 - 16,318,083 (-)NCBI
Build 361616,150,923 - 16,224,815 (-)NCBI Archive
HuRef1615,637,406 - 15,701,476 (-)ENTREZGENE
HuRef1617,226,645 - 17,228,924 (+)NCBI
CHM1_11618,669,848 - 18,691,347 (+)NCBI
T2T-CHM13v2.01616,154,422 - 16,229,003 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001351800   ⟹   NP_001338729
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,149,565 - 16,223,471 (-)NCBI
T2T-CHM13v2.01616,154,422 - 16,228,980 (-)NCBI
Sequence:
RefSeq Acc Id: NR_147784
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,149,565 - 16,223,471 (-)NCBI
T2T-CHM13v2.01616,154,422 - 16,228,980 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001162   ⟸   NM_001171
- Peptide Label: isoform 1
- UniProtKB: Q8TCY8 (UniProtKB/Swiss-Prot),   P78420 (UniProtKB/Swiss-Prot),   O95255 (UniProtKB/Swiss-Prot),   E7ESW8 (UniProtKB/Swiss-Prot),   A8Y988 (UniProtKB/Swiss-Prot),   A8KIG6 (UniProtKB/Swiss-Prot),   A2RRN8 (UniProtKB/Swiss-Prot),   Q9UMZ7 (UniProtKB/Swiss-Prot),   A0A0G2JMG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001072996   ⟸   NM_001079528
- Peptide Label: isoform 2
- UniProtKB: O95255 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001338729   ⟸   NM_001351800
- Peptide Label: isoform 3
- UniProtKB: A0A0G2JMG3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000483331   ⟸   ENST00000622290
RefSeq Acc Id: ENSP00000205557   ⟸   ENST00000205557
RefSeq Acc Id: ENSP00000405002   ⟸   ENST00000456970
RefSeq Acc Id: ENSP00000461686   ⟸   ENST00000575728
RefSeq Acc Id: ENSP00000492197   ⟸   ENST00000640696
RefSeq Acc Id: ENSP00000459243   ⟸   ENST00000577103
Protein Domains
ABC transmembrane type-1   ABC transporter

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95255-F1-model_v2 AlphaFold O95255 1-1503 view protein structure

Promoters
RGD ID:7231427
Promoter ID:EPDNEW_H21459
Type:initiation region
Name:ABCC6_1
Description:ATP binding cassette subfamily C member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21460  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,223,494 - 16,223,554EPDNEW
RGD ID:7231429
Promoter ID:EPDNEW_H21460
Type:initiation region
Name:ABCC6_2
Description:ATP binding cassette subfamily C member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21459  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381616,223,616 - 16,223,676EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:57 AgrOrtholog
COSMIC ABCC6 COSMIC
Ensembl Genes ENSG00000091262 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275331 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000205557 ENTREZGENE
  ENST00000205557.12 UniProtKB/Swiss-Prot
  ENST00000456970 ENTREZGENE
  ENST00000456970.6 UniProtKB/Swiss-Prot
  ENST00000574094.6 UniProtKB/TrEMBL
  ENST00000575728 ENTREZGENE
  ENST00000575728.1 UniProtKB/Swiss-Prot
  ENST00000577103.1 UniProtKB/TrEMBL
  ENST00000600761.3 UniProtKB/Swiss-Prot
  ENST00000620078.4 UniProtKB/TrEMBL
  ENST00000622290.5 UniProtKB/TrEMBL
  ENST00000632157.1 UniProtKB/TrEMBL
  ENST00000633611.1 UniProtKB/TrEMBL
  ENST00000638420.1 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000091262 GTEx
  ENSG00000275331 GTEx
HGNC ID HGNC:57 ENTREZGENE
Human Proteome Map ABCC6 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Multidrug-R_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:368 UniProtKB/Swiss-Prot
NCBI Gene 368 ENTREZGENE
OMIM 603234 OMIM
PANTHER ATP-BINDING CASSETTE SUB-FAMILY C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24223:SF339 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ABCC6 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JMG3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YVW5_HUMAN UniProtKB/TrEMBL
  A0A1W2PPQ8_HUMAN UniProtKB/TrEMBL
  A0A804HJ04_HUMAN UniProtKB/TrEMBL
  A0A8C8Q0G8_HUMAN UniProtKB/TrEMBL
  A2RRN8 ENTREZGENE
  A8KIG6 ENTREZGENE
  A8Y988 ENTREZGENE
  E7ESW8 ENTREZGENE
  I3L1Z6_HUMAN UniProtKB/TrEMBL
  MRP6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  P78420 ENTREZGENE
  Q8TCY8 ENTREZGENE
  Q9UMZ7 ENTREZGENE
UniProt Secondary A2RRN8 UniProtKB/Swiss-Prot
  A8KIG6 UniProtKB/Swiss-Prot
  A8Y988 UniProtKB/Swiss-Prot
  E7ESW8 UniProtKB/Swiss-Prot
  P78420 UniProtKB/Swiss-Prot
  Q8TCY8 UniProtKB/Swiss-Prot
  Q9UMZ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-03 ABCC6  ATP binding cassette subfamily C member 6  PXE  pseudoxanthoma elasticum  Data merged from RGD:1342516 737654 PROVISIONAL
2015-11-24 ABCC6  ATP binding cassette subfamily C member 6    ATP-binding cassette, sub-family C (CFTR/MRP), member 6  Symbol and/or name change 5135510 APPROVED