AMPD1 (adenosine monophosphate deaminase 1) - Rat Genome Database

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Gene: AMPD1 (adenosine monophosphate deaminase 1) Homo sapiens
Analyze
Symbol: AMPD1
Name: adenosine monophosphate deaminase 1
RGD ID: 735799
HGNC Page HGNC:468
Description: Enables AMP deaminase activity and identical protein binding activity. Involved in GMP salvage. Predicted to be active in cytosol. Implicated in congestive heart failure and coronary artery disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: adenosine monophosphate deaminase 1 (isoform M); adenosine monophosphate deaminase-1 (muscle); AMP deaminase 1; AMPD; MAD; MADA; MMDD; myoadenylate deaminase; skeletal muscle AMPD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381114,673,098 - 114,695,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1114,673,090 - 114,695,618 (-)EnsemblGRCh38hg38GRCh38
GRCh371115,215,719 - 115,238,167 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,017,245 - 115,039,699 (-)NCBINCBI36Build 36hg18NCBI36
Build 341114,927,763 - 114,950,218NCBI
Celera1113,444,980 - 113,467,497 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1113,074,205 - 113,096,714 (-)NCBIHuRef
CHM1_11115,330,528 - 115,353,046 (-)NCBICHM1_1
T2T-CHM13v2.01114,684,545 - 114,707,007 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA,IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. Anderson JL, etal., J Am Coll Cardiol. 2000 Oct;36(4):1248-52. doi: 10.1016/s0735-1097(00)00850-0.
2. Evaluation of AMPD1 C34T genotype as a predictor of mortality in heart failure and post-myocardial infarction patients. Collins RP, etal., Am Heart J. 2006 Aug;152(2):312-20. doi: 10.1016/j.ahj.2005.12.015.
3. Role of adenosine monophosphate deaminase-1 gene polymorphism in patients with congestive heart failure (influence on tumor necrosis factor-alpha level and outcome). Gastmann A, etal., Am J Cardiol. 2004 May 15;93(10):1260-4. doi: 10.1016/j.amjcard.2004.02.011.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Variation in the gene for muscle-specific AMP deaminase is associated with insulin clearance, a highly heritable trait. Goodarzi MO, etal., Diabetes. 2005 Apr;54(4):1222-7.
6. Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Loh E, etal., Circulation. 1999 Mar 23;99(11):1422-5. doi: 10.1161/01.cir.99.11.1422.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. The impact of AMPD1 gene polymorphism on vascular function and inflammation in patients with coronary artery disease. Tousoulis D, etal., Int J Cardiol. 2014 Apr 1;172(3):e516-8. doi: 10.1016/j.ijcard.2014.01.078. Epub 2014 Jan 25.
14. A common variant of the AMPD1 gene predicts improved survival in patients with ischemic left ventricular dysfunction. Yazaki Y, etal., J Card Fail. 2004 Aug;10(4):316-20. doi: 10.1016/j.cardfail.2003.10.008.
Additional References at PubMed
PMID:644316   PMID:1370861   PMID:1400401   PMID:1429593   PMID:1631143   PMID:2345176   PMID:2502331   PMID:6167680   PMID:6406772   PMID:7201581   PMID:7287721   PMID:8335021  
PMID:8355716   PMID:8889549   PMID:9443500   PMID:9730972   PMID:9857047   PMID:9880040   PMID:10996775   PMID:11102975   PMID:12117480   PMID:12213808   PMID:12477932   PMID:12783984  
PMID:14702039   PMID:15173240   PMID:15239633   PMID:15368811   PMID:15677729   PMID:15882662   PMID:16021915   PMID:16021918   PMID:16344560   PMID:16360962   PMID:16570231   PMID:16671104  
PMID:16707139   PMID:16710414   PMID:16767606   PMID:16947783   PMID:16996850   PMID:17376785   PMID:17463303   PMID:17500595   PMID:17530705   PMID:17565237   PMID:17630210   PMID:17687759  
PMID:18224333   PMID:18338202   PMID:18409530   PMID:18493842   PMID:18801770   PMID:18855224   PMID:19237423   PMID:19277943   PMID:19353846   PMID:19422651   PMID:19427446   PMID:19845893  
PMID:19902562   PMID:19913121   PMID:19948975   PMID:20044476   PMID:20544536   PMID:20628086   PMID:20952631   PMID:21108053   PMID:21145461   PMID:21873635   PMID:22017426   PMID:22105616  
PMID:22324844   PMID:23414517   PMID:23486588   PMID:24058088   PMID:24189344   PMID:24431031   PMID:25155876   PMID:25665401   PMID:26439223   PMID:26529652   PMID:27025967   PMID:27323204  
PMID:27525900   PMID:28673246   PMID:29079593   PMID:29095874   PMID:31182584   PMID:31880188   PMID:32296183   PMID:32429460   PMID:32687490  


Genomics

Comparative Map Data
AMPD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381114,673,098 - 114,695,546 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1114,673,090 - 114,695,618 (-)EnsemblGRCh38hg38GRCh38
GRCh371115,215,719 - 115,238,167 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361115,017,245 - 115,039,699 (-)NCBINCBI36Build 36hg18NCBI36
Build 341114,927,763 - 114,950,218NCBI
Celera1113,444,980 - 113,467,497 (-)NCBICelera
Cytogenetic Map1p13.2NCBI
HuRef1113,074,205 - 113,096,714 (-)NCBIHuRef
CHM1_11115,330,528 - 115,353,046 (-)NCBICHM1_1
T2T-CHM13v2.01114,684,545 - 114,707,007 (-)NCBIT2T-CHM13v2.0
Ampd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393102,981,330 - 103,007,038 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3102,981,330 - 103,007,036 (+)EnsemblGRCm39 Ensembl
GRCm383103,073,897 - 103,099,720 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3103,074,014 - 103,099,720 (+)EnsemblGRCm38mm10GRCm38
MGSCv373102,877,937 - 102,903,643 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363103,203,085 - 103,228,775 (+)NCBIMGSCv36mm8
Celera3105,279,015 - 105,304,764 (+)NCBICelera
Cytogenetic Map3F2.2NCBI
cM Map345.25NCBI
Ampd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82193,287,219 - 193,308,446 (+)NCBIGRCr8
mRatBN7.22190,598,707 - 190,619,938 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2190,598,700 - 190,619,938 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2198,196,323 - 198,217,325 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02196,068,738 - 196,089,807 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02190,886,015 - 190,907,019 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02205,568,934 - 205,589,961 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2205,568,935 - 205,590,021 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02224,999,541 - 225,020,451 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42198,308,512 - 198,331,019 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12198,271,265 - 198,293,773 (+)NCBI
Celera2183,072,165 - 183,093,534 (+)NCBICelera
RH 3.4 Map21322.2RGD
Cytogenetic Map2q34NCBI
Ampd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543517,962,514 - 17,991,556 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543517,962,487 - 17,991,625 (-)NCBIChiLan1.0ChiLan1.0
AMPD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21107,335,357 - 107,358,132 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11106,929,421 - 106,952,175 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0187,858,602 - 87,881,348 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11122,912,417 - 122,934,476 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1122,912,417 - 122,934,476 (+)Ensemblpanpan1.1panPan2
AMPD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11752,377,411 - 52,399,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1752,377,402 - 52,399,520 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1752,027,974 - 52,050,104 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01753,254,745 - 53,276,859 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1753,254,751 - 53,276,817 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11752,288,891 - 52,311,015 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01752,331,044 - 52,353,189 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01752,904,387 - 52,926,524 (-)NCBIUU_Cfam_GSD_1.0
Ampd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505814,431,737 - 14,455,624 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493662733,350 - 57,166 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493662733,350 - 57,231 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AMPD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4105,868,897 - 105,893,769 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14105,868,834 - 105,892,171 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24116,057,642 - 116,080,925 (+)NCBISscrofa10.2Sscrofa10.2susScr3
AMPD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12018,973,547 - 18,996,082 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2018,974,204 - 18,996,293 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603821,728,019 - 21,751,276 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ampd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477210,320,735 - 10,348,464 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477210,320,837 - 10,350,237 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AMPD1
417 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV000019933]|not provided [RCV000487355]|not specified [RCV003226164] Chr1:114693436 [GRCh38]
Chr1:115236057 [GRCh37]
Chr1:1p13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) single nucleotide variant Muscle AMP deaminase deficiency [RCV000019934]|not provided [RCV000522883]|not specified [RCV002298446] Chr1:114677972 [GRCh38]
Chr1:115220593 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) single nucleotide variant Muscle AMP deaminase deficiency [RCV000019935]|not provided [RCV000173624]|not specified [RCV002247372] Chr1:114677465 [GRCh38]
Chr1:115220086 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001862146]|not provided [RCV000728434] Chr1:114680409 [GRCh38]
Chr1:115223030 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3 copy number gain See cases [RCV000051827] Chr1:109756630..118650204 [GRCh38]
Chr1:110299252..119192827 [GRCh37]
Chr1:110100775..118994350 [NCBI36]
Chr1:1p13.3-12
pathogenic
NM_000036.3(AMPD1):c.1979C>T (p.Pro660Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001948259] Chr1:114673745 [GRCh38]
Chr1:115216366 [GRCh37]
Chr1:115017889 [NCBI36]
Chr1:1p13.2
uncertain significance|not provided
NM_000036.2(AMPD1):c.2062C>T (p.His688Tyr) single nucleotide variant Malignant melanoma [RCV000064026] Chr1:114673920 [GRCh38]
Chr1:115216541 [GRCh37]
Chr1:115018064 [NCBI36]
Chr1:1p13.2
not provided
NM_000036.2(AMPD1):c.2061C>T (p.Phe687=) single nucleotide variant Malignant melanoma [RCV000064027] Chr1:114673921 [GRCh38]
Chr1:115216542 [GRCh37]
Chr1:115018065 [NCBI36]
Chr1:1p13.2
not provided
NM_000036.2(AMPD1):c.691G>A (p.Asp231Asn) single nucleotide variant Malignant melanoma [RCV000064028] Chr1:114680434 [GRCh38]
Chr1:115223055 [GRCh37]
Chr1:115024578 [NCBI36]
Chr1:1p13.2
not provided
NM_000036.2(AMPD1):c.336G>A (p.Arg112=) single nucleotide variant Malignant melanoma [RCV000064029] Chr1:114686889 [GRCh38]
Chr1:115229510 [GRCh37]
Chr1:115031033 [NCBI36]
Chr1:1p13.2
not provided
NM_000036.2(AMPD1):c.754C>T (p.Pro252Ser) single nucleotide variant Malignant melanoma [RCV000059841] Chr1:114680371 [GRCh38]
Chr1:115222992 [GRCh37]
Chr1:115024515 [NCBI36]
Chr1:1p13.2
not provided
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV000660396] Chr1:114673176 [GRCh38]
Chr1:115215797 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV000077969]|not provided [RCV000514310]|not specified [RCV003226192] Chr1:114678495 [GRCh38]
Chr1:115221116 [GRCh37]
Chr1:1p13.2
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.1224+8G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV001521547]|not provided [RCV000676654]|not specified [RCV000077970] Chr1:114677902 [GRCh38]
Chr1:115220523 [GRCh37]
Chr1:1p13.2
benign|uncertain significance
NM_000036.3(AMPD1):c.35-7_35-4del deletion Muscle AMP deaminase deficiency [RCV001078885]|not provided [RCV000077972] Chr1:114688745..114688748 [GRCh38]
Chr1:115231366..115231369 [GRCh37]
Chr1:1p13.2
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000971717]|not provided [RCV002055088]|not specified [RCV000077973] Chr1:114688677 [GRCh38]
Chr1:115231298 [GRCh37]
Chr1:1p13.2
benign|likely benign|uncertain significance
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000971866]|not specified [RCV000077974] Chr1:114673936 [GRCh38]
Chr1:115216557 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001514920]|not provided [RCV000416093] Chr1:114688633 [GRCh38]
Chr1:115231254 [GRCh37]
Chr1:1p13.2
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|other
NM_000036.3(AMPD1):c.215+10G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV001085342]|not provided [RCV000676657]|not specified [RCV000077976] Chr1:114688551 [GRCh38]
Chr1:115231172 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.309T>A (p.Ile103=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002055089]|not provided [RCV000077977] Chr1:114686817 [GRCh38]
Chr1:115229438 [GRCh37]
Chr1:1p13.2
benign|uncertain significance
NM_000036.3(AMPD1):c.767+18C>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002055090]|not provided [RCV000077978] Chr1:114680241 [GRCh38]
Chr1:115222862 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) single nucleotide variant Hypercholesterolemia, autosomal dominant, type B [RCV002464104]|Muscle AMP deaminase deficiency [RCV000763229]|not provided [RCV000676655]|not specified [RCV002247475] Chr1:114679616 [GRCh38]
Chr1:115222237 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.586C>T (p.Arg196Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV002596155] Chr1:114680440 [GRCh38]
Chr1:115223061 [GRCh37]
Chr1:1p13.2
pathogenic|uncertain significance
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) single nucleotide variant Muscle AMP deaminase deficiency [RCV000763230]|not provided [RCV000443504] Chr1:114684278 [GRCh38]
Chr1:115226899 [GRCh37]
Chr1:1p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002054148]|not specified [RCV000180456] Chr1:114678012 [GRCh38]
Chr1:115220633 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.-69C>G single nucleotide variant Autism [RCV000143850] Chr1:114695540 [GRCh38]
Chr1:115238161 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.507T>G (p.Ile169Met) single nucleotide variant Autism [RCV000143851]|Muscle AMP deaminase deficiency [RCV001854365] Chr1:114684239 [GRCh38]
Chr1:115226860 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.509A>T (p.Asp170Val) single nucleotide variant Autism [RCV000143852]|Muscle AMP deaminase deficiency [RCV001854366] Chr1:114684237 [GRCh38]
Chr1:115226858 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.540C>T (p.Phe180=) single nucleotide variant Autism [RCV000143853] Chr1:114684206 [GRCh38]
Chr1:115226827 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.603T>A (p.Pro201=) single nucleotide variant Autism [RCV000143854] Chr1:114680423 [GRCh38]
Chr1:115223044 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.-30G>A single nucleotide variant Autism [RCV000143855] Chr1:114695501 [GRCh38]
Chr1:115238122 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.727G>A (p.Asp243Asn) single nucleotide variant Autism [RCV000143856] Chr1:114680299 [GRCh38]
Chr1:115222920 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1350C>G (p.Cys450Trp) single nucleotide variant Autism [RCV000143844] Chr1:114677389 [GRCh38]
Chr1:115220010 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1399C>T (p.Arg467Cys) single nucleotide variant Autism [RCV000143845]|Muscle AMP deaminase deficiency [RCV000701904] Chr1:114675993 [GRCh38]
Chr1:115218614 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1470C>T (p.Thr490=) single nucleotide variant Autism [RCV000143846] Chr1:114675922 [GRCh38]
Chr1:115218543 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1615C>T (p.Pro539Ser) single nucleotide variant Autism [RCV000143847] Chr1:114675594 [GRCh38]
Chr1:115218215 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1778C>G (p.Ser593Cys) single nucleotide variant Autism [RCV000143848] Chr1:114674774 [GRCh38]
Chr1:115217395 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1943C>T (p.Thr648Ile) single nucleotide variant Autism [RCV000143849] Chr1:114673940 [GRCh38]
Chr1:115216561 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001852119]|not provided [RCV000173954] Chr1:114675960 [GRCh38]
Chr1:115218581 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2173A>G (p.Met725Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001852134]|not provided [RCV000174974] Chr1:114673185 [GRCh38]
Chr1:115215806 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh38/hg38 1p13.2(chr1:114499327-114926423)x1 copy number loss See cases [RCV000139157] Chr1:114499327..114926423 [GRCh38]
Chr1:115041949..115469044 [GRCh37]
Chr1:114843472..115270567 [NCBI36]
Chr1:1p13.2
uncertain significance
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12
pathogenic
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000955762]|not specified [RCV000152780] Chr1:114673972 [GRCh38]
Chr1:115216593 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000394995]|not specified [RCV000152781] Chr1:114674038 [GRCh38]
Chr1:115216659 [GRCh37]
Chr1:1p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000354278]|not specified [RCV000152782] Chr1:114675928 [GRCh38]
Chr1:115218549 [GRCh37]
Chr1:1p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.382-6del deletion Muscle AMP deaminase deficiency [RCV000361316]|not specified [RCV000152783] Chr1:114684370 [GRCh38]
Chr1:115226991 [GRCh37]
Chr1:1p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) single nucleotide variant Muscle AMP deaminase deficiency [RCV000266611]|not provided [RCV002510793]|not specified [RCV000152784] Chr1:114686902 [GRCh38]
Chr1:115229523 [GRCh37]
Chr1:1p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.636C>T (p.Asp212=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002054128]|not provided [RCV000179245] Chr1:114680390 [GRCh38]
Chr1:115223011 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) single nucleotide variant Muscle AMP deaminase deficiency [RCV002054105]|not provided [RCV000513971]|not specified [RCV000178025] Chr1:114686792 [GRCh38]
Chr1:115229413 [GRCh37]
Chr1:1p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV000394998]|not provided [RCV000592181] Chr1:114675639 [GRCh38]
Chr1:115218260 [GRCh37]
Chr1:1p13.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.681T>C (p.Asp227=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002201168] Chr1:114680345 [GRCh38]
Chr1:115222966 [GRCh37]
Chr1:1p13.2
benign|uncertain significance
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) single nucleotide variant Muscle AMP deaminase deficiency [RCV001336067] Chr1:114684322 [GRCh38]
Chr1:115226943 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV000290731]|not provided [RCV000725876] Chr1:114674831 [GRCh38]
Chr1:115217452 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.103C>T (p.Arg35Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001943584] Chr1:114688673 [GRCh38]
Chr1:115231294 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.195C>T (p.Ser65=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000381199]|not provided [RCV003409428] Chr1:114688581 [GRCh38]
Chr1:115231202 [GRCh37]
Chr1:1p13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_000036.3(AMPD1):c.223C>T (p.Arg75Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001936930] Chr1:114686903 [GRCh38]
Chr1:115229524 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1473C>T (p.Ile491=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003073483] Chr1:114675919 [GRCh38]
Chr1:115218540 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.500G>A (p.Arg167Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV001991776] Chr1:114684246 [GRCh38]
Chr1:115226867 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.215+8G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002519082]|not provided [RCV000341466] Chr1:114688553 [GRCh38]
Chr1:115231174 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.548-9T>C single nucleotide variant not provided [RCV000377562] Chr1:114680487 [GRCh38]
Chr1:115223108 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003137900]|not provided [RCV000308586] Chr1:114679683 [GRCh38]
Chr1:115222304 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.382-6dup duplication Muscle AMP deaminase deficiency [RCV000320664]|not provided [RCV000514572] Chr1:114684369..114684370 [GRCh38]
Chr1:115226990..115226991 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.462G>A (p.Ser154=) single nucleotide variant not provided [RCV000283084] Chr1:114684284 [GRCh38]
Chr1:115226905 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.144G>A (p.Pro48=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002059304]|not provided [RCV000394006] Chr1:114688632 [GRCh38]
Chr1:115231253 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.1170C>G (p.Leu390=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002059280]|not provided [RCV000394386] Chr1:114677964 [GRCh38]
Chr1:115220585 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.1975-10A>G single nucleotide variant not provided [RCV000395597] Chr1:114673759 [GRCh38]
Chr1:115216380 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1819T>C (p.Leu607=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002059259]|not provided [RCV000398833] Chr1:114674064 [GRCh38]
Chr1:115216685 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.1191C>T (p.Tyr397=) single nucleotide variant not provided [RCV000262172] Chr1:114677943 [GRCh38]
Chr1:115220564 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.513T>A (p.Gly171=) single nucleotide variant not provided [RCV000364015] Chr1:114684233 [GRCh38]
Chr1:115226854 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.759A>C (p.Gln253His) single nucleotide variant not provided [RCV000598329] Chr1:114680267 [GRCh38]
Chr1:115222888 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.2(AMPD1):c.1750A>T (p.Asn584Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV000348483] Chr1:114675558 [GRCh38]
Chr1:115218179 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV003100540] Chr1:114673211 [GRCh38]
Chr1:115215832 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.2(AMPD1):c.133+8T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV000327802] Chr1:114693428 [GRCh38]
Chr1:115236049 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.2(AMPD1):c.2025A>G (p.Leu675=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000344522] Chr1:114673957 [GRCh38]
Chr1:115216578 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.152A>G (p.His51Arg) single nucleotide variant not provided [RCV000597013] Chr1:114688624 [GRCh38]
Chr1:115231245 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1801-9C>T single nucleotide variant not provided [RCV000591082] Chr1:114674091 [GRCh38]
Chr1:115216712 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) single nucleotide variant Inborn genetic diseases [RCV003165983]|Muscle AMP deaminase deficiency [RCV001868973]|not provided [RCV000732206] Chr1:114678454 [GRCh38]
Chr1:115221075 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.2-12(chr1:114507501-120494232)x3 copy number gain See cases [RCV000449311] Chr1:114507501..120494232 [GRCh37]
Chr1:1p13.2-12
pathogenic
NM_000036.3(AMPD1):c.1625C>T (p.Thr542Ile) single nucleotide variant not provided [RCV000432474] Chr1:114675584 [GRCh38]
Chr1:115218205 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000036.3(AMPD1):c.1365G>A (p.Trp455Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV002525198]|not provided [RCV000523515] Chr1:114677374 [GRCh38]
Chr1:115219995 [GRCh37]
Chr1:1p13.2
likely pathogenic|uncertain significance
NM_000036.3(AMPD1):c.552T>C (p.Phe184=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000634524] Chr1:114680474 [GRCh38]
Chr1:115223095 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.465T>A (p.Phe155Leu) single nucleotide variant Inborn genetic diseases [RCV003291437] Chr1:114684281 [GRCh38]
Chr1:115226902 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1389-16T>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002060188]|not provided [RCV000513967] Chr1:114676019 [GRCh38]
Chr1:115218640 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.1050G>T (p.Met350Ile) single nucleotide variant Inborn genetic diseases [RCV003299934] Chr1:114678375 [GRCh38]
Chr1:115220996 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV003139893]|not provided [RCV000595060] Chr1:114686830 [GRCh38]
Chr1:115229451 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.466C>A (p.Gln156Lys) single nucleotide variant Inborn genetic diseases [RCV003291438] Chr1:114684280 [GRCh38]
Chr1:115226901 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2
pathogenic
NM_000036.3(AMPD1):c.1975-23T>A single nucleotide variant not specified [RCV000597385] Chr1:114673772 [GRCh38]
Chr1:115216393 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) single nucleotide variant Muscle AMP deaminase deficiency [RCV001868286]|not provided [RCV000676653] Chr1:114674758 [GRCh38]
Chr1:115217379 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.63T>C (p.Ala21=) single nucleotide variant not provided [RCV000676658] Chr1:114688713 [GRCh38]
Chr1:115231334 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) single nucleotide variant Muscle AMP deaminase deficiency [RCV001078990]|not provided [RCV000676656] Chr1:114684234 [GRCh38]
Chr1:115226855 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.323C>T (p.Thr108Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV000699403] Chr1:114686803 [GRCh38]
Chr1:115229424 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000036.3(AMPD1):c.1224+59AGGA[14] microsatellite not provided [RCV001540467] Chr1:114677799..114677800 [GRCh38]
Chr1:115220420..115220421 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1388+136G>C single nucleotide variant not provided [RCV001681012] Chr1:114677215 [GRCh38]
Chr1:115219836 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1224+59AGGA[10] microsatellite not provided [RCV001666151] Chr1:114677800..114677811 [GRCh38]
Chr1:115220421..115220432 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.548-214G>A single nucleotide variant not provided [RCV001648566] Chr1:114680692 [GRCh38]
Chr1:115223313 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1801-266G>A single nucleotide variant not provided [RCV001666723] Chr1:114674348 [GRCh38]
Chr1:115216969 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.216-8G>A single nucleotide variant not provided [RCV000905526] Chr1:114686918 [GRCh38]
Chr1:115229539 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.381+1G>C single nucleotide variant Muscle AMP deaminase deficiency [RCV000924244]|not provided [RCV001759669] Chr1:114686744 [GRCh38]
Chr1:115229365 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.801C>G (p.Leu267=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002066041] Chr1:114679675 [GRCh38]
Chr1:115222296 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2005G>A (p.Ala669Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV001050830] Chr1:114673719 [GRCh38]
Chr1:115216340 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.881T>G (p.Phe294Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV000792297] Chr1:114679595 [GRCh38]
Chr1:115222216 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1058A>C (p.Tyr353Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV000795292] Chr1:114678367 [GRCh38]
Chr1:115220988 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.921C>T (p.Ala307=) single nucleotide variant not provided [RCV000918540] Chr1:114678504 [GRCh38]
Chr1:115221125 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1174T>C (p.Leu392=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002065678] Chr1:114677960 [GRCh38]
Chr1:115220581 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.2(AMPD1):c.9C>T (p.Val3=) single nucleotide variant Muscle AMP deaminase deficiency [RCV001498935] Chr1:114695562 [GRCh38]
Chr1:115238183 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.5del (p.Pro2fs) deletion Muscle AMP deaminase deficiency [RCV002066370] Chr1:114695467 [GRCh38]
Chr1:115238088 [GRCh37]
Chr1:1p13.2
benign|conflicting interpretations of pathogenicity
NM_000036.3(AMPD1):c.382-5G>T single nucleotide variant not provided [RCV000961101] Chr1:114684369 [GRCh38]
Chr1:115226990 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.638G>A (p.Gly213Asp) single nucleotide variant Inborn genetic diseases [RCV003248850] Chr1:114680388 [GRCh38]
Chr1:115223009 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.243T>G (p.Thr81=) single nucleotide variant Muscle AMP deaminase deficiency [RCV000960526] Chr1:114686883 [GRCh38]
Chr1:115229504 [GRCh37]
Chr1:1p13.2
benign
NC_000001.11:g.(?_114688541)_(114695590_?)del deletion Muscle AMP deaminase deficiency [RCV000809314] Chr1:114688541..114695590 [GRCh38]
Chr1:115231162..115238211 [GRCh37]
Chr1:1p13.2
pathogenic
NM_000036.3(AMPD1):c.1492G>C (p.Glu498Gln) single nucleotide variant Inborn genetic diseases [RCV003292130] Chr1:114675900 [GRCh38]
Chr1:115218521 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1388+5G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV001199132] Chr1:114677346 [GRCh38]
Chr1:115219967 [GRCh37]
Chr1:1p13.2
uncertain significance
NC_000001.10:g.(?_113456513)_(116311162_?)dup duplication RASopathy [RCV003107709] Chr1:113456513..116311162 [GRCh37]
Chr1:1p13.2-13.1
uncertain significance
NM_000036.3(AMPD1):c.548-57T>A single nucleotide variant not provided [RCV001717323] Chr1:114680535 [GRCh38]
Chr1:115223156 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1389-283C>T single nucleotide variant not provided [RCV001721718] Chr1:114676286 [GRCh38]
Chr1:115218907 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.22+40dup duplication not provided [RCV001714113] Chr1:114695395..114695396 [GRCh38]
Chr1:115238016..115238017 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1224+59AGGA[12] microsatellite not provided [RCV001649193] Chr1:114677800..114677803 [GRCh38]
Chr1:115220421..115220424 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.34+152T>C single nucleotide variant not provided [RCV001717485] Chr1:114693284 [GRCh38]
Chr1:115235905 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1224+59AGGA[16] microsatellite not provided [RCV001639478] Chr1:114677799..114677800 [GRCh38]
Chr1:115220420..115220421 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1388+243C>T single nucleotide variant not provided [RCV001652431] Chr1:114677108 [GRCh38]
Chr1:115219729 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.898-188T>A single nucleotide variant not provided [RCV001639710] Chr1:114678715 [GRCh38]
Chr1:115221336 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.34+276T>C single nucleotide variant not provided [RCV001614007] Chr1:114693160 [GRCh38]
Chr1:115235781 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) single nucleotide variant Muscle AMP deaminase deficiency [RCV002066448]|not specified [RCV003230608] Chr1:114686891 [GRCh38]
Chr1:115229512 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000036.3(AMPD1):c.1188T>C (p.Asn396=) single nucleotide variant Muscle AMP deaminase deficiency [RCV001491880] Chr1:114677946 [GRCh38]
Chr1:115220567 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1102A>G (p.Thr368Ala) single nucleotide variant Muscle AMP deaminase deficiency [RCV001225225] Chr1:114678032 [GRCh38]
Chr1:115220653 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1974+1G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002569077]|not provided [RCV001574991]|not specified [RCV003226480] Chr1:114673908 [GRCh38]
Chr1:115216529 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.897+31C>G single nucleotide variant not provided [RCV001677915] Chr1:114679548 [GRCh38]
Chr1:115222169 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.381+205A>G single nucleotide variant not provided [RCV001676463] Chr1:114686540 [GRCh38]
Chr1:115229161 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1378C>T (p.Pro460Ser) single nucleotide variant Hypercholesterolemia, autosomal dominant, type B [RCV002464976] Chr1:114677361 [GRCh38]
Chr1:115219982 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1 copy number loss not provided [RCV001005130] Chr1:114024461..116189135 [GRCh37]
Chr1:1p13.2-13.1
likely pathogenic
NM_000036.3(AMPD1):c.768-149C>T single nucleotide variant not provided [RCV001608239] Chr1:114679857 [GRCh38]
Chr1:115222478 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.768-105C>T single nucleotide variant not provided [RCV001717225] Chr1:114679813 [GRCh38]
Chr1:115222434 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.548-215C>T single nucleotide variant not provided [RCV001527820] Chr1:114680693 [GRCh38]
Chr1:115223314 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1388+128C>T single nucleotide variant not provided [RCV001717325] Chr1:114677223 [GRCh38]
Chr1:115219844 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1224+59AGGA[11] microsatellite not provided [RCV001647979] Chr1:114677800..114677807 [GRCh38]
Chr1:115220421..115220428 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1388+297C>T single nucleotide variant not provided [RCV001670293] Chr1:114677054 [GRCh38]
Chr1:115219675 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1801-188C>A single nucleotide variant not provided [RCV001680452] Chr1:114674270 [GRCh38]
Chr1:115216891 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1801-183G>A single nucleotide variant not provided [RCV001667642] Chr1:114674265 [GRCh38]
Chr1:115216886 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1515+85C>T single nucleotide variant not provided [RCV001614975] Chr1:114675792 [GRCh38]
Chr1:115218413 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.2181T>A (p.Tyr727Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV001332120] Chr1:114673177 [GRCh38]
Chr1:115215798 [GRCh37]
Chr1:1p13.2
likely pathogenic
NM_000036.3(AMPD1):c.34+1G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV001336065] Chr1:114693435 [GRCh38]
Chr1:115236056 [GRCh37]
Chr1:1p13.2
pathogenic
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV001316598] Chr1:114688736 [GRCh38]
Chr1:115231357 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2113T>C (p.Tyr705His) single nucleotide variant Inborn genetic diseases [RCV003294181]|Muscle AMP deaminase deficiency [RCV001871617]|not provided [RCV001280720] Chr1:114673245 [GRCh38]
Chr1:115215866 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.-60dup duplication Muscle AMP deaminase deficiency [RCV001336066] Chr1:114695530..114695531 [GRCh38]
Chr1:115238151..115238152 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.115del (p.Ser39fs) deletion Muscle AMP deaminase deficiency [RCV001292788] Chr1:114688661 [GRCh38]
Chr1:115231282 [GRCh37]
Chr1:1p13.2
pathogenic
NM_000036.3(AMPD1):c.1361C>T (p.Thr454Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001304589] Chr1:114677378 [GRCh38]
Chr1:115219999 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12
pathogenic
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV001401460] Chr1:114680449 [GRCh38]
Chr1:115223070 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity
NM_000036.3(AMPD1):c.547+169A>G single nucleotide variant not provided [RCV001717094] Chr1:114684030 [GRCh38]
Chr1:115226651 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1389-157T>C single nucleotide variant not provided [RCV001651421] Chr1:114676160 [GRCh38]
Chr1:115218781 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.22+54del deletion not provided [RCV001643571] Chr1:114695396 [GRCh38]
Chr1:115238017 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.1680-234C>G single nucleotide variant not provided [RCV001618770] Chr1:114675106 [GRCh38]
Chr1:115217727 [GRCh37]
Chr1:1p13.2
benign
NC_000001.11:g.114695941_114695954dup duplication not provided [RCV001670318] Chr1:114695931..114695932 [GRCh38]
Chr1:115238552..115238553 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.440G>A (p.Arg147His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001868447]|not provided [RCV001765511] Chr1:114684306 [GRCh38]
Chr1:115226927 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.216-9C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002074088]|not provided [RCV001786683] Chr1:114686919 [GRCh38]
Chr1:115229540 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.1331T>A (p.Val444Asp) single nucleotide variant Muscle AMP deaminase deficiency [RCV002024921] Chr1:114677408 [GRCh38]
Chr1:115220029 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1381A>G (p.Arg461Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV001929900] Chr1:114677358 [GRCh38]
Chr1:115219979 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.200C>T (p.Ser67Phe) single nucleotide variant Muscle AMP deaminase deficiency [RCV001874681] Chr1:114688576 [GRCh38]
Chr1:115231197 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.782A>G (p.His261Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV001896583] Chr1:114679694 [GRCh38]
Chr1:115222315 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) single nucleotide variant Muscle AMP deaminase deficiency [RCV002045679] Chr1:114688723 [GRCh38]
Chr1:115231344 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.439C>T (p.Arg147Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001874914] Chr1:114684307 [GRCh38]
Chr1:115226928 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.247A>G (p.Asn83Asp) single nucleotide variant Muscle AMP deaminase deficiency [RCV001949112] Chr1:114686879 [GRCh38]
Chr1:115229500 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.665C>T (p.Ala222Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001896608] Chr1:114680361 [GRCh38]
Chr1:115222982 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001895833] Chr1:114678467 [GRCh38]
Chr1:115221088 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV001908526] Chr1:114686890 [GRCh38]
Chr1:115229511 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.592G>C (p.Asp198His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001890205] Chr1:114680434 [GRCh38]
Chr1:115223055 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1292G>A (p.Arg431His) single nucleotide variant Inborn genetic diseases [RCV003365650]|Muscle AMP deaminase deficiency [RCV002006922] Chr1:114677447 [GRCh38]
Chr1:115220068 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.829C>T (p.Leu277Phe) single nucleotide variant Muscle AMP deaminase deficiency [RCV001863431] Chr1:114679647 [GRCh38]
Chr1:115222268 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.643G>A (p.Val215Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001950699] Chr1:114680383 [GRCh38]
Chr1:115223004 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.394G>A (p.Asp132Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV001947142] Chr1:114684352 [GRCh38]
Chr1:115226973 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1276C>G (p.Leu426Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001947173] Chr1:114677463 [GRCh38]
Chr1:115220084 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.104G>T (p.Arg35Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001894329] Chr1:114688672 [GRCh38]
Chr1:115231293 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1813C>A (p.Gln605Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV002005949] Chr1:114674070 [GRCh38]
Chr1:115216691 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2T>G (p.Met1Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV001889551] Chr1:114695470 [GRCh38]
Chr1:115238091 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783) copy number gain not specified [RCV002053602] Chr1:111647582..121343783 [GRCh37]
Chr1:1p13.3-11.2
pathogenic
NM_000036.3(AMPD1):c.1476C>A (p.Asn492Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001870648] Chr1:114675916 [GRCh38]
Chr1:115218537 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1974+1G>C single nucleotide variant Muscle AMP deaminase deficiency [RCV001893933] Chr1:114673908 [GRCh38]
Chr1:115216529 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001891583] Chr1:114678475 [GRCh38]
Chr1:115221096 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1849A>G (p.Met617Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002005425] Chr1:114674034 [GRCh38]
Chr1:115216655 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1383G>C (p.Arg461Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV001894721] Chr1:114677356 [GRCh38]
Chr1:115219977 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1316T>G (p.Leu439Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV002042510] Chr1:114677423 [GRCh38]
Chr1:115220044 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2102T>A (p.Leu701Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV002023414] Chr1:114673256 [GRCh38]
Chr1:115215877 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.773C>T (p.Thr258Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001928336] Chr1:114679703 [GRCh38]
Chr1:115222324 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV001983979] Chr1:114680389 [GRCh38]
Chr1:115223010 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) single nucleotide variant Muscle AMP deaminase deficiency [RCV001926994] Chr1:114673212 [GRCh38]
Chr1:115215833 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1680-20T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002023794] Chr1:114674892 [GRCh38]
Chr1:115217513 [GRCh37]
Chr1:1p13.2
likely benign|uncertain significance
NM_000036.3(AMPD1):c.843C>G (p.Asp281Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002005218] Chr1:114679633 [GRCh38]
Chr1:115222254 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1469C>T (p.Thr490Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001985600] Chr1:114675923 [GRCh38]
Chr1:115218544 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1687G>C (p.Gly563Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV001945860] Chr1:114674865 [GRCh38]
Chr1:115217486 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1000A>C (p.Thr334Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV002043391] Chr1:114678425 [GRCh38]
Chr1:115221046 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2033A>G (p.Asp678Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV002000753] Chr1:114673691 [GRCh38]
Chr1:115216312 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.-33T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV001961373] Chr1:114695504 [GRCh38]
Chr1:115238125 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) single nucleotide variant Inborn genetic diseases [RCV002560474]|Muscle AMP deaminase deficiency [RCV001924113] Chr1:114673738 [GRCh38]
Chr1:115216359 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1504T>C (p.Phe502Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001943289] Chr1:114675888 [GRCh38]
Chr1:115218509 [GRCh37]
Chr1:1p13.2
uncertain significance
NC_000001.11:g.114695550A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV001961743] Chr1:114695550 [GRCh38]
Chr1:115238171 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1679+1G>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002000458] Chr1:114675529 [GRCh38]
Chr1:115218150 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1268A>C (p.Glu423Ala) single nucleotide variant Muscle AMP deaminase deficiency [RCV001995827] Chr1:114677471 [GRCh38]
Chr1:115220092 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1709G>A (p.Arg570Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV001939092] Chr1:114674843 [GRCh38]
Chr1:115217464 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.116C>A (p.Ser39Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV001937508] Chr1:114688660 [GRCh38]
Chr1:115231281 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.835G>A (p.Glu279Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001997696] Chr1:114679641 [GRCh38]
Chr1:115222262 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV002001391] Chr1:114679691 [GRCh38]
Chr1:115222312 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.769A>C (p.Lys257Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV002039209] Chr1:114679707 [GRCh38]
Chr1:115222328 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1030C>A (p.Leu344Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001897365] Chr1:114678395 [GRCh38]
Chr1:115221016 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1807G>A (p.Val603Met) single nucleotide variant Muscle AMP deaminase deficiency [RCV001936038] Chr1:114674076 [GRCh38]
Chr1:115216697 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1385T>C (p.Ile462Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002035590] Chr1:114677354 [GRCh38]
Chr1:115219975 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1517T>A (p.Ile506Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV001883491] Chr1:114675692 [GRCh38]
Chr1:115218313 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1562A>C (p.His521Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV001981413] Chr1:114675647 [GRCh38]
Chr1:115218268 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.62C>T (p.Ala21Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001977859] Chr1:114688714 [GRCh38]
Chr1:115231335 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1813C>T (p.Gln605Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV001936895] Chr1:114674070 [GRCh38]
Chr1:115216691 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1210G>C (p.Ala404Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV001903689] Chr1:114677924 [GRCh38]
Chr1:115220545 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.376T>C (p.Ser126Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV001920363] Chr1:114686750 [GRCh38]
Chr1:115229371 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.106C>T (p.Gln36Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV002046863] Chr1:114688670 [GRCh38]
Chr1:115231291 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV001899351] Chr1:114674844 [GRCh38]
Chr1:115217465 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.767+3_767+6del deletion Muscle AMP deaminase deficiency [RCV001919558] Chr1:114680253..114680256 [GRCh38]
Chr1:115222874..115222877 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1400G>A (p.Arg467His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001921463] Chr1:114675992 [GRCh38]
Chr1:115218613 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.844G>A (p.Glu282Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001898548] Chr1:114679632 [GRCh38]
Chr1:115222253 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2086-11T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV001951143] Chr1:114673283 [GRCh38]
Chr1:115215904 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.104G>A (p.Arg35His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001865129] Chr1:114688672 [GRCh38]
Chr1:115231293 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1761G>A (p.Met587Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001952680] Chr1:114674791 [GRCh38]
Chr1:115217412 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.92A>G (p.Asp31Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV001935653] Chr1:114688684 [GRCh38]
Chr1:115231305 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1148G>A (p.Gly383Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001957550] Chr1:114677986 [GRCh38]
Chr1:115220607 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.328C>G (p.Gln110Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV001940291] Chr1:114686798 [GRCh38]
Chr1:115229419 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1097G>A (p.Arg366His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001954472] Chr1:114678037 [GRCh38]
Chr1:115220658 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) single nucleotide variant Inborn genetic diseases [RCV002642051]|Muscle AMP deaminase deficiency [RCV002033844] Chr1:114680338 [GRCh38]
Chr1:115222959 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2089_2090insTTTCTCCTAT (p.Lys697fs) insertion Muscle AMP deaminase deficiency [RCV001918241] Chr1:114673268..114673269 [GRCh38]
Chr1:115215889..115215890 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.538T>C (p.Phe180Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002048534] Chr1:114684208 [GRCh38]
Chr1:115226829 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1221C>G (p.Ile407Met) single nucleotide variant Muscle AMP deaminase deficiency [RCV002049967] Chr1:114677913 [GRCh38]
Chr1:115220534 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1112G>A (p.Arg371His) single nucleotide variant Muscle AMP deaminase deficiency [RCV002047479] Chr1:114678022 [GRCh38]
Chr1:115220643 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV001882945] Chr1:114678023 [GRCh38]
Chr1:115220644 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1273C>T (p.Arg425Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV002034003] Chr1:114677466 [GRCh38]
Chr1:115220087 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001916521] Chr1:114677942 [GRCh38]
Chr1:115220563 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1414C>A (p.Leu472Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001931128] Chr1:114675978 [GRCh38]
Chr1:115218599 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.857T>A (p.Leu286Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV001877966] Chr1:114679619 [GRCh38]
Chr1:115222240 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1979C>A (p.Pro660His) single nucleotide variant Muscle AMP deaminase deficiency [RCV001938271] Chr1:114673745 [GRCh38]
Chr1:115216366 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) single nucleotide variant Inborn genetic diseases [RCV003289308]|Muscle AMP deaminase deficiency [RCV001951692] Chr1:114679692 [GRCh38]
Chr1:115222313 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1259A>G (p.Gln420Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV001979684] Chr1:114677480 [GRCh38]
Chr1:115220101 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.52C>T (p.Arg18Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV001998108] Chr1:114688724 [GRCh38]
Chr1:115231345 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.186G>T (p.Glu62Asp) single nucleotide variant Muscle AMP deaminase deficiency [RCV002017903] Chr1:114688590 [GRCh38]
Chr1:115231211 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1729G>A (p.Gly577Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV001925248] Chr1:114674823 [GRCh38]
Chr1:115217444 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2171G>T (p.Arg724Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002019018] Chr1:114673187 [GRCh38]
Chr1:115215808 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.875G>A (p.Arg292Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV002033082] Chr1:114679601 [GRCh38]
Chr1:115222222 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1595A>T (p.Glu532Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV001996124] Chr1:114675614 [GRCh38]
Chr1:115218235 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1659G>C (p.Met553Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV001992889] Chr1:114675550 [GRCh38]
Chr1:115218171 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) single nucleotide variant AMPD1-related condition [RCV003408038]|Muscle AMP deaminase deficiency [RCV001977678] Chr1:114679689 [GRCh38]
Chr1:115222310 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1806C>T (p.Pro602=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002148625] Chr1:114674077 [GRCh38]
Chr1:115216698 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.510T>C (p.Asp170=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002075723] Chr1:114684236 [GRCh38]
Chr1:115226857 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1743T>C (p.His581=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002170011] Chr1:114674809 [GRCh38]
Chr1:115217430 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.767+7G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002168869] Chr1:114680252 [GRCh38]
Chr1:115222873 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1557T>C (p.Ser519=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002145502] Chr1:114675652 [GRCh38]
Chr1:115218273 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1662G>T (p.Val554=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002168430] Chr1:114675547 [GRCh38]
Chr1:115218168 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.504C>T (p.Asn168=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002165234] Chr1:114684242 [GRCh38]
Chr1:115226863 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1515+20C>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002088887] Chr1:114675857 [GRCh38]
Chr1:115218478 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2133T>A (p.Ala711=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002148228] Chr1:114673225 [GRCh38]
Chr1:115215846 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.898-14G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002186592] Chr1:114678541 [GRCh38]
Chr1:115221162 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.864C>T (p.Asn288=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002172261] Chr1:114679612 [GRCh38]
Chr1:115222233 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.174A>T (p.Ile58=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002093366] Chr1:114688602 [GRCh38]
Chr1:115231223 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.189T>G (p.Thr63=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002211658] Chr1:114688587 [GRCh38]
Chr1:115231208 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.687T>C (p.Pro229=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002078157] Chr1:114680339 [GRCh38]
Chr1:115222960 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.990G>T (p.Val330=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002151712] Chr1:114678435 [GRCh38]
Chr1:115221056 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1092+12C>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002173394] Chr1:114678321 [GRCh38]
Chr1:115220942 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1924C>T (p.Leu642=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002075126] Chr1:114673959 [GRCh38]
Chr1:115216580 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1800+16T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002094845] Chr1:114674736 [GRCh38]
Chr1:115217357 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.23-4A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002190472] Chr1:114693451 [GRCh38]
Chr1:115236072 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.624C>G (p.Leu208=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002195667] Chr1:114680402 [GRCh38]
Chr1:115223023 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1974+9T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002212789] Chr1:114673900 [GRCh38]
Chr1:115216521 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.9G>A (p.Leu3=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002073809] Chr1:114695463 [GRCh38]
Chr1:115238084 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.333C>T (p.Thr111=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002150242] Chr1:114686793 [GRCh38]
Chr1:115229414 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1388+10T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002197177] Chr1:114677341 [GRCh38]
Chr1:115219962 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.180T>C (p.His60=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002089251] Chr1:114688596 [GRCh38]
Chr1:115231217 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.2(AMPD1):c.24T>C (p.Ser8=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002218004] Chr1:114695547 [GRCh38]
Chr1:115238168 [GRCh37]
Chr1:1p13.2
likely benign|conflicting interpretations of pathogenicity
NM_000036.3(AMPD1):c.1224+7C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002121363] Chr1:114677903 [GRCh38]
Chr1:115220524 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.22+15T>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002119937] Chr1:114695435 [GRCh38]
Chr1:115238056 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1225-12T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002219034] Chr1:114677526 [GRCh38]
Chr1:115220147 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1800+15C>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002182163] Chr1:114674737 [GRCh38]
Chr1:115217358 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1971C>G (p.Thr657=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002164662] Chr1:114673912 [GRCh38]
Chr1:115216533 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.216-5C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002175376] Chr1:114686915 [GRCh38]
Chr1:115229536 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1975-12A>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002142286] Chr1:114673761 [GRCh38]
Chr1:115216382 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2086-19C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002155674] Chr1:114673291 [GRCh38]
Chr1:115215912 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1236G>A (p.Ala412=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002119272] Chr1:114677503 [GRCh38]
Chr1:115220124 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1093-13T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002202653] Chr1:114678054 [GRCh38]
Chr1:115220675 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.906C>T (p.Thr302=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002103425] Chr1:114678519 [GRCh38]
Chr1:115221140 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1092+12C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002083622] Chr1:114678321 [GRCh38]
Chr1:115220942 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.282C>A (p.Thr94=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002204755] Chr1:114686844 [GRCh38]
Chr1:115229465 [GRCh37]
Chr1:1p13.2
likely benign
NC_000001.10:g.(?_112318699)_(115576848_?)del deletion Hereditary spastic paraplegia 47 [RCV003109541] Chr1:112318699..115576848 [GRCh37]
Chr1:1p13.2
pathogenic
NM_000036.3(AMPD1):c.215+1G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003118382] Chr1:114688560 [GRCh38]
Chr1:115231181 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1515+7A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV003112245] Chr1:114675870 [GRCh38]
Chr1:115218491 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1329C>T (p.Phe443=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003115659] Chr1:114677410 [GRCh38]
Chr1:115220031 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.754G>T (p.Ala252Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV002296945] Chr1:114680272 [GRCh38]
Chr1:115222893 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.653A>G (p.Tyr218Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV002297161] Chr1:114680373 [GRCh38]
Chr1:115222994 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1075T>C (p.Ser359Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV002858537] Chr1:114678350 [GRCh38]
Chr1:115220971 [GRCh37]
Chr1:1p13.2
uncertain significance
GRCh37/hg19 1p13.2(chr1:114833697-115377089)x1 copy number loss not provided [RCV002473608] Chr1:114833697..115377089 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1319C>A (p.Ser440Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002303812] Chr1:114677420 [GRCh38]
Chr1:115220041 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2171G>C (p.Arg724Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV002294983] Chr1:114673187 [GRCh38]
Chr1:115215808 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2135G>A (p.Gly712Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003011922] Chr1:114673223 [GRCh38]
Chr1:115215844 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.231_243del (p.Gly78fs) deletion Muscle AMP deaminase deficiency [RCV002838230] Chr1:114686883..114686895 [GRCh38]
Chr1:115229504..115229516 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1420C>T (p.His474Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002613598] Chr1:114675972 [GRCh38]
Chr1:115218593 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1151C>A (p.Ala384Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003012075] Chr1:114677983 [GRCh38]
Chr1:115220604 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.92A>T (p.Asp31Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002775496] Chr1:114688684 [GRCh38]
Chr1:115231305 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1706T>A (p.Phe569Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002726755] Chr1:114674846 [GRCh38]
Chr1:115217467 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1537G>A (p.Asp513Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV002756347] Chr1:114675672 [GRCh38]
Chr1:115218293 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.21A>C (p.Pro7=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002947535] Chr1:114695451 [GRCh38]
Chr1:115238072 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1225-16T>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002681568] Chr1:114677530 [GRCh38]
Chr1:115220151 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2044G>C (p.Val682Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002947325] Chr1:114673680 [GRCh38]
Chr1:115216301 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1158_1177del (p.Leu387fs) deletion Muscle AMP deaminase deficiency [RCV002861955] Chr1:114677957..114677976 [GRCh38]
Chr1:115220578..115220597 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1224+6G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002618524] Chr1:114677904 [GRCh38]
Chr1:115220525 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1568T>C (p.Phe523Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV002618865] Chr1:114675641 [GRCh38]
Chr1:115218262 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1975-20_1975-18dup duplication Muscle AMP deaminase deficiency [RCV002861342] Chr1:114673766..114673767 [GRCh38]
Chr1:115216387..115216388 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2092G>C (p.Val698Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002839497] Chr1:114673266 [GRCh38]
Chr1:115215887 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1772A>C (p.Asp591Ala) single nucleotide variant Muscle AMP deaminase deficiency [RCV003073683] Chr1:114674780 [GRCh38]
Chr1:115217401 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.520T>C (p.Trp174Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV002615124] Chr1:114684226 [GRCh38]
Chr1:115226847 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.2(AMPD1):c.11G>A (p.Arg4Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV002615845] Chr1:114695560 [GRCh38]
Chr1:115238181 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.79T>C (p.Ser27Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV002730421] Chr1:114688697 [GRCh38]
Chr1:115231318 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1235C>T (p.Ala412Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002751285] Chr1:114677504 [GRCh38]
Chr1:115220125 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.788G>A (p.Arg263His) single nucleotide variant Inborn genetic diseases [RCV003377816]|Muscle AMP deaminase deficiency [RCV002974780] Chr1:114679688 [GRCh38]
Chr1:115222309 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2116C>G (p.Leu706Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002947737] Chr1:114673242 [GRCh38]
Chr1:115215863 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.382-18C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV003012529] Chr1:114684382 [GRCh38]
Chr1:115227003 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2227C>A (p.Leu743Ile) single nucleotide variant Inborn genetic diseases [RCV002906053] Chr1:114673131 [GRCh38]
Chr1:115215752 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1560C>G (p.Gly520=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003038243] Chr1:114675649 [GRCh38]
Chr1:115218270 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.638G>T (p.Gly213Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002638830] Chr1:114680388 [GRCh38]
Chr1:115223009 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His) single nucleotide variant Muscle AMP deaminase deficiency [RCV002619368] Chr1:114673187 [GRCh38]
Chr1:115215808 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1846G>A (p.Ala616Thr) single nucleotide variant Inborn genetic diseases [RCV002952621]|Muscle AMP deaminase deficiency [RCV002952622] Chr1:114674037 [GRCh38]
Chr1:115216658 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2106C>T (p.Gly702=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003081571] Chr1:114673252 [GRCh38]
Chr1:115215873 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.499C>T (p.Arg167Trp) single nucleotide variant Muscle AMP deaminase deficiency [RCV002999432] Chr1:114684247 [GRCh38]
Chr1:115226868 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.905C>T (p.Thr302Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV002800185] Chr1:114678520 [GRCh38]
Chr1:115221141 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1974+8A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV003039496] Chr1:114673901 [GRCh38]
Chr1:115216522 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1220T>C (p.Ile407Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002696215] Chr1:114677914 [GRCh38]
Chr1:115220535 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.-15A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002795740] Chr1:114695486 [GRCh38]
Chr1:115238107 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.929T>C (p.Met310Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002621625] Chr1:114678496 [GRCh38]
Chr1:115221117 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV002976007] Chr1:114680367 [GRCh38]
Chr1:115222988 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.216-17T>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002796681] Chr1:114686927 [GRCh38]
Chr1:115229548 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.918A>G (p.Ala306=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003078282] Chr1:114678507 [GRCh38]
Chr1:115221128 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.146T>A (p.Ile49Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV002619529] Chr1:114688630 [GRCh38]
Chr1:115231251 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.471G>A (p.Arg157=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002824916] Chr1:114684275 [GRCh38]
Chr1:115226896 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.506T>C (p.Ile169Thr) single nucleotide variant Inborn genetic diseases [RCV002844395] Chr1:114684240 [GRCh38]
Chr1:115226861 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1808T>G (p.Val603Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV002591277] Chr1:114674075 [GRCh38]
Chr1:115216696 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.996T>C (p.Tyr332=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002780629] Chr1:114678429 [GRCh38]
Chr1:115221050 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1330G>A (p.Val444Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV002886616] Chr1:114677409 [GRCh38]
Chr1:115220030 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.2(AMPD1):c.23G>T (p.Ser8Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV003036089] Chr1:114695548 [GRCh38]
Chr1:115238169 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1679+1G>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002909572] Chr1:114675529 [GRCh38]
Chr1:115218150 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.768-19G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003078281] Chr1:114679727 [GRCh38]
Chr1:115222348 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1752A>G (p.Thr584=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002622189] Chr1:114674800 [GRCh38]
Chr1:115217421 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.53G>T (p.Arg18Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002705583] Chr1:114688723 [GRCh38]
Chr1:115231344 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1483G>C (p.Ala495Pro) single nucleotide variant Inborn genetic diseases [RCV002785190] Chr1:114675909 [GRCh38]
Chr1:115218530 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1583C>T (p.Pro528Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002913034] Chr1:114675626 [GRCh38]
Chr1:115218247 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1590C>T (p.Pro530=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002952359] Chr1:114675619 [GRCh38]
Chr1:115218240 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1084G>A (p.Val362Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV003080438] Chr1:114678341 [GRCh38]
Chr1:115220962 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1339C>A (p.Arg447Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV002796401] Chr1:114677400 [GRCh38]
Chr1:115220021 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.375C>T (p.Ala125=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002705918] Chr1:114686751 [GRCh38]
Chr1:115229372 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.-45CTT[1] microsatellite Muscle AMP deaminase deficiency [RCV002741370] Chr1:114695511..114695513 [GRCh38]
Chr1:115238132..115238134 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.351_352del (p.Arg117fs) microsatellite Muscle AMP deaminase deficiency [RCV002933245] Chr1:114686774..114686775 [GRCh38]
Chr1:115229395..115229396 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1747A>T (p.Met583Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002663621] Chr1:114674805 [GRCh38]
Chr1:115217426 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.204A>T (p.Thr68=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002576065] Chr1:114688572 [GRCh38]
Chr1:115231193 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.35-3T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002959028] Chr1:114688744 [GRCh38]
Chr1:115231365 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.997A>G (p.Ser333Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV002801614] Chr1:114678428 [GRCh38]
Chr1:115221049 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1366A>T (p.Met456Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002932450] Chr1:114677373 [GRCh38]
Chr1:115219994 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.369C>T (p.Asp123=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002828620] Chr1:114686757 [GRCh38]
Chr1:115229378 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.910A>G (p.Ile304Val) single nucleotide variant Inborn genetic diseases [RCV002671961]|Muscle AMP deaminase deficiency [RCV002700064] Chr1:114678515 [GRCh38]
Chr1:115221136 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2041G>A (p.Glu681Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV003082926] Chr1:114673683 [GRCh38]
Chr1:115216304 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1739C>T (p.Thr580Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV002574139] Chr1:114674813 [GRCh38]
Chr1:115217434 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1734C>T (p.Ala578=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003006329] Chr1:114674818 [GRCh38]
Chr1:115217439 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2170C>T (p.Arg724Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV003058435] Chr1:114673188 [GRCh38]
Chr1:115215809 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro) single nucleotide variant Inborn genetic diseases [RCV002891510]|Muscle AMP deaminase deficiency [RCV003140179] Chr1:114686797 [GRCh38]
Chr1:115229418 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.34+3G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003040574] Chr1:114693433 [GRCh38]
Chr1:115236054 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.716C>T (p.Thr239Ile) single nucleotide variant Inborn genetic diseases [RCV002664076]|Muscle AMP deaminase deficiency [RCV002647979] Chr1:114680310 [GRCh38]
Chr1:115222931 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.746C>T (p.Ala249Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002890464] Chr1:114680280 [GRCh38]
Chr1:115222901 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.607A>T (p.Asn203Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002624338] Chr1:114680419 [GRCh38]
Chr1:115223040 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.113T>C (p.Ile38Thr) single nucleotide variant Inborn genetic diseases [RCV002802523] Chr1:114688663 [GRCh38]
Chr1:115231284 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2086-7C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002700418] Chr1:114673279 [GRCh38]
Chr1:115215900 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1974+16G>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002667557] Chr1:114673893 [GRCh38]
Chr1:115216514 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1800+7T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002642922] Chr1:114674745 [GRCh38]
Chr1:115217366 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.874C>T (p.Arg292Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV002643928] Chr1:114679602 [GRCh38]
Chr1:115222223 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.779C>T (p.Thr260Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV002594100] Chr1:114679697 [GRCh38]
Chr1:115222318 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1697C>T (p.Thr566Met) single nucleotide variant Inborn genetic diseases [RCV002929522] Chr1:114674855 [GRCh38]
Chr1:115217476 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.727G>T (p.Asp243Tyr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002642798] Chr1:114680299 [GRCh38]
Chr1:115222920 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1955T>A (p.Met652Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV003041608] Chr1:114673928 [GRCh38]
Chr1:115216549 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.156T>C (p.His52=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002932122] Chr1:114688620 [GRCh38]
Chr1:115231241 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1800+14T>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002574390] Chr1:114674738 [GRCh38]
Chr1:115217359 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1302T>A (p.Asp434Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV002918560] Chr1:114677437 [GRCh38]
Chr1:115220058 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe) single nucleotide variant Muscle AMP deaminase deficiency [RCV002573643]|not specified [RCV003230751] Chr1:114677420 [GRCh38]
Chr1:115220041 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1955T>C (p.Met652Thr) single nucleotide variant Inborn genetic diseases [RCV002826887] Chr1:114673928 [GRCh38]
Chr1:115216549 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1111C>T (p.Arg371Cys) single nucleotide variant Inborn genetic diseases [RCV002763362] Chr1:114678023 [GRCh38]
Chr1:115220644 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1224+15A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002596151] Chr1:114677895 [GRCh38]
Chr1:115220516 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.285A>C (p.Lys95Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV002740874] Chr1:114686841 [GRCh38]
Chr1:115229462 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1118A>G (p.Asp373Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV003056759] Chr1:114678016 [GRCh38]
Chr1:115220637 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1224+6G>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002805383] Chr1:114677904 [GRCh38]
Chr1:115220525 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.215+6T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003040572] Chr1:114688555 [GRCh38]
Chr1:115231176 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.261A>C (p.Pro87=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002875643] Chr1:114686865 [GRCh38]
Chr1:115229486 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.343T>A (p.Phe115Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV002953868] Chr1:114686783 [GRCh38]
Chr1:115229404 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.301G>C (p.Glu101Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV002786190] Chr1:114686825 [GRCh38]
Chr1:115229446 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1388+15A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002958337] Chr1:114677336 [GRCh38]
Chr1:115219957 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.633G>A (p.Lys211=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002825739] Chr1:114680393 [GRCh38]
Chr1:115223014 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1685G>A (p.Arg562Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV002581640] Chr1:114674867 [GRCh38]
Chr1:115217488 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.190_191del (p.Leu64fs) microsatellite Muscle AMP deaminase deficiency [RCV002721084] Chr1:114688585..114688586 [GRCh38]
Chr1:115231206..115231207 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1166A>T (p.Asp389Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002581737] Chr1:114677968 [GRCh38]
Chr1:115220589 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.759A>T (p.Gln253His) single nucleotide variant Muscle AMP deaminase deficiency [RCV003031254] Chr1:114680267 [GRCh38]
Chr1:115222888 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.740dup (p.Leu247fs) duplication Muscle AMP deaminase deficiency [RCV002966163] Chr1:114680285..114680286 [GRCh38]
Chr1:115222906..115222907 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.89A>T (p.Lys30Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV002967202] Chr1:114688687 [GRCh38]
Chr1:115231308 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.333C>G (p.Thr111=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002632061] Chr1:114686793 [GRCh38]
Chr1:115229414 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV003060874] Chr1:114677971 [GRCh38]
Chr1:115220592 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1425T>C (p.Phe475=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003048834] Chr1:114675967 [GRCh38]
Chr1:115218588 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.315A>C (p.Ser105=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002630404] Chr1:114686811 [GRCh38]
Chr1:115229432 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2107G>A (p.Asp703Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV002941900] Chr1:114673251 [GRCh38]
Chr1:115215872 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.147_148insCGGACA (p.Ile49_Ser50insArgThr) insertion Muscle AMP deaminase deficiency [RCV002632271] Chr1:114688628..114688629 [GRCh38]
Chr1:115231249..115231250 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.768-11A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV003060542] Chr1:114679719 [GRCh38]
Chr1:115222340 [GRCh37]
Chr1:1p13.2
benign
NM_000036.3(AMPD1):c.2086-3T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003088515] Chr1:114673275 [GRCh38]
Chr1:115215896 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.-31T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002598453] Chr1:114695502 [GRCh38]
Chr1:115238123 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.670G>C (p.Val224Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003043894] Chr1:114680356 [GRCh38]
Chr1:115222977 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1637A>G (p.Tyr546Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV002627538] Chr1:114675572 [GRCh38]
Chr1:115218193 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1588C>T (p.Pro530Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV002579827] Chr1:114675621 [GRCh38]
Chr1:115218242 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1753G>A (p.Ala585Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002716057] Chr1:114674799 [GRCh38]
Chr1:115217420 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2036T>C (p.Met679Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002648195] Chr1:114673688 [GRCh38]
Chr1:115216309 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1304A>G (p.Glu435Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV002598584] Chr1:114677435 [GRCh38]
Chr1:115220056 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1578G>A (p.Lys526=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002672012] Chr1:114675631 [GRCh38]
Chr1:115218252 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1173C>T (p.Tyr391=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002599674] Chr1:114677961 [GRCh38]
Chr1:115220582 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.34+5G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV002628754] Chr1:114693431 [GRCh38]
Chr1:115236052 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.308T>C (p.Ile103Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV003045389] Chr1:114686818 [GRCh38]
Chr1:115229439 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1125C>G (p.Phe375Leu) single nucleotide variant Inborn genetic diseases [RCV002920569] Chr1:114678009 [GRCh38]
Chr1:115220630 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1490C>T (p.Pro497Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003044671] Chr1:114675902 [GRCh38]
Chr1:115218523 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1465G>A (p.Ala489Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV002938857] Chr1:114675927 [GRCh38]
Chr1:115218548 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.381+17C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002627893] Chr1:114686728 [GRCh38]
Chr1:115229349 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.23-10C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV002938868] Chr1:114693457 [GRCh38]
Chr1:115236078 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.768-2A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV002631083] Chr1:114679710 [GRCh38]
Chr1:115222331 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2224G>C (p.Gly742Arg) single nucleotide variant Muscle AMP deaminase deficiency [RCV003046161] Chr1:114673134 [GRCh38]
Chr1:115215755 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.802T>C (p.Ser268Pro) single nucleotide variant Inborn genetic diseases [RCV002809618] Chr1:114679674 [GRCh38]
Chr1:115222295 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1873C>G (p.Leu625Val) single nucleotide variant Muscle AMP deaminase deficiency [RCV002943347] Chr1:114674010 [GRCh38]
Chr1:115216631 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1806C>G (p.Pro602=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003067405] Chr1:114674077 [GRCh38]
Chr1:115216698 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.216-2del deletion Muscle AMP deaminase deficiency [RCV002658394] Chr1:114686912 [GRCh38]
Chr1:115229533 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1093-12T>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003092643] Chr1:114678053 [GRCh38]
Chr1:115220674 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.381G>A (p.Gly127=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003072452] Chr1:114686745 [GRCh38]
Chr1:115229366 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.4C>T (p.Pro2Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV003071684] Chr1:114695468 [GRCh38]
Chr1:115238089 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.381+20T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV002680909] Chr1:114686725 [GRCh38]
Chr1:115229346 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His) single nucleotide variant Muscle AMP deaminase deficiency [RCV003052703] Chr1:114673175 [GRCh38]
Chr1:115215796 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1242G>A (p.Leu414=) single nucleotide variant Muscle AMP deaminase deficiency [RCV002585368] Chr1:114677497 [GRCh38]
Chr1:115220118 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys) single nucleotide variant Inborn genetic diseases [RCV003269365]|Muscle AMP deaminase deficiency [RCV002943982] Chr1:114678038 [GRCh38]
Chr1:115220659 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.193T>A (p.Ser65Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV003093451] Chr1:114688583 [GRCh38]
Chr1:115231204 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1946A>G (p.Asp649Gly) single nucleotide variant Inborn genetic diseases [RCV003199897] Chr1:114673937 [GRCh38]
Chr1:115216558 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.260C>T (p.Pro87Leu) single nucleotide variant Inborn genetic diseases [RCV003195115] Chr1:114686866 [GRCh38]
Chr1:115229487 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1732G>A (p.Ala578Thr) single nucleotide variant Inborn genetic diseases [RCV003190125] Chr1:114674820 [GRCh38]
Chr1:115217441 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2122G>A (p.Glu708Lys) single nucleotide variant Inborn genetic diseases [RCV003192945] Chr1:114673236 [GRCh38]
Chr1:115215857 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.637G>T (p.Gly213Cys) single nucleotide variant Inborn genetic diseases [RCV003199381] Chr1:114680389 [GRCh38]
Chr1:115223010 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141353] Chr1:114688652 [GRCh38]
Chr1:115231273 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141354] Chr1:114686822 [GRCh38]
Chr1:115229443 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141355] Chr1:114674868 [GRCh38]
Chr1:115217489 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141356] Chr1:114679703 [GRCh38]
Chr1:115222324 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141358] Chr1:114680439 [GRCh38]
Chr1:115223060 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141359] Chr1:114673952 [GRCh38]
Chr1:115216573 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.810G>A (p.Lys270=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141360] Chr1:114679666 [GRCh38]
Chr1:115222287 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.988G>A (p.Val330Met) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141361] Chr1:114678437 [GRCh38]
Chr1:115221058 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141362] Chr1:114673661 [GRCh38]
Chr1:115216282 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.35-2A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV003141363] Chr1:114688743 [GRCh38]
Chr1:115231364 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.942T>A (p.His314Gln) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141364] Chr1:114678483 [GRCh38]
Chr1:115221104 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141365] Chr1:114680386 [GRCh38]
Chr1:115223007 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV003141366] Chr1:114675590 [GRCh38]
Chr1:115218211 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1469C>A (p.Thr490Asn) single nucleotide variant Inborn genetic diseases [RCV003209132] Chr1:114675923 [GRCh38]
Chr1:115218544 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1875A>G (p.Leu625=) single nucleotide variant not provided [RCV003222621] Chr1:114674008 [GRCh38]
Chr1:115216629 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.280A>G (p.Thr94Ala) single nucleotide variant Inborn genetic diseases [RCV003219983] Chr1:114686846 [GRCh38]
Chr1:115229467 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.349A>G (p.Arg117Gly) single nucleotide variant Inborn genetic diseases [RCV003287016] Chr1:114686777 [GRCh38]
Chr1:115229398 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.297T>G (p.Ile99Met) single nucleotide variant Inborn genetic diseases [RCV003359277] Chr1:114686829 [GRCh38]
Chr1:115229450 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2150G>A (p.Arg717Lys) single nucleotide variant Inborn genetic diseases [RCV003364573] Chr1:114673208 [GRCh38]
Chr1:115215829 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.34+19T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003875454] Chr1:114693417 [GRCh38]
Chr1:115236038 [GRCh37]
Chr1:1p13.2
likely benign
GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1 copy number loss not provided [RCV003483294] Chr1:110066946..116672408 [GRCh37]
Chr1:1p13.3-13.1
pathogenic
NM_000036.3(AMPD1):c.946C>T (p.Leu316=) single nucleotide variant not provided [RCV003406682] Chr1:114678479 [GRCh38]
Chr1:115221100 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.381+7T>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003517922] Chr1:114686738 [GRCh38]
Chr1:115229359 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.547+13T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003517630] Chr1:114684186 [GRCh38]
Chr1:115226807 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1225-13C>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003516692] Chr1:114677527 [GRCh38]
Chr1:115220148 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1800+12G>T single nucleotide variant Muscle AMP deaminase deficiency [RCV003518488] Chr1:114674740 [GRCh38]
Chr1:115217361 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1093-12T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003518498] Chr1:114678053 [GRCh38]
Chr1:115220674 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.-42C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV003518199] Chr1:114695513 [GRCh38]
Chr1:115238134 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1383G>A (p.Arg461=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003518394] Chr1:114677356 [GRCh38]
Chr1:115219977 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.898-18C>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003518556] Chr1:114678545 [GRCh38]
Chr1:115221166 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.726C>T (p.Asp242=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003518104] Chr1:114680300 [GRCh38]
Chr1:115222921 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1974+7T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003518421] Chr1:114673902 [GRCh38]
Chr1:115216523 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.898-9T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003518444] Chr1:114678536 [GRCh38]
Chr1:115221157 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.255C>T (p.Ser85=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003518611] Chr1:114686871 [GRCh38]
Chr1:115229492 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1388+8C>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003882250] Chr1:114677343 [GRCh38]
Chr1:115219964 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.791T>C (p.Leu264Pro) single nucleotide variant Muscle AMP deaminase deficiency [RCV003517525] Chr1:114679685 [GRCh38]
Chr1:115222306 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.137T>G (p.Ile46Ser) single nucleotide variant Muscle AMP deaminase deficiency [RCV003516758] Chr1:114688639 [GRCh38]
Chr1:115231260 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1389-5T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003516891] Chr1:114676008 [GRCh38]
Chr1:115218629 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1529A>G (p.Asp510Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV003516811] Chr1:114675680 [GRCh38]
Chr1:115218301 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.2106C>A (p.Gly702=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003880289] Chr1:114673252 [GRCh38]
Chr1:115215873 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.547+16del deletion Muscle AMP deaminase deficiency [RCV003516855] Chr1:114684183 [GRCh38]
Chr1:115226804 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.428C>A (p.Ala143Glu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003517600] Chr1:114684318 [GRCh38]
Chr1:115226939 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1388+14C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV003877730] Chr1:114677337 [GRCh38]
Chr1:115219958 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1516-14A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV003877828] Chr1:114675707 [GRCh38]
Chr1:115218328 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1093-5T>C single nucleotide variant Muscle AMP deaminase deficiency [RCV003518702] Chr1:114678046 [GRCh38]
Chr1:115220667 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1389-15C>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003635025] Chr1:114676018 [GRCh38]
Chr1:115218639 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.767+12del deletion Muscle AMP deaminase deficiency [RCV003634055] Chr1:114680247 [GRCh38]
Chr1:115222868 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.461C>T (p.Ser154Leu) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634096] Chr1:114684285 [GRCh38]
Chr1:115226906 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.922G>A (p.Ala308Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634137] Chr1:114678503 [GRCh38]
Chr1:115221124 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1019C>T (p.Thr340Ile) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634027] Chr1:114678406 [GRCh38]
Chr1:115221027 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.589A>G (p.Thr197Ala) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634180] Chr1:114680437 [GRCh38]
Chr1:115223058 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.117C>T (p.Ser39=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634423] Chr1:114688659 [GRCh38]
Chr1:115231280 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.480A>G (p.Lys160=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003633281] Chr1:114684266 [GRCh38]
Chr1:115226887 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.933C>G (p.Asn311Lys) single nucleotide variant Muscle AMP deaminase deficiency [RCV003633735] Chr1:114678492 [GRCh38]
Chr1:115221113 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1391A>G (p.Asp464Gly) single nucleotide variant Muscle AMP deaminase deficiency [RCV003635285] Chr1:114676001 [GRCh38]
Chr1:115218622 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1662G>A (p.Val554=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634237] Chr1:114675547 [GRCh38]
Chr1:115218168 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1886A>G (p.Tyr629Cys) single nucleotide variant Muscle AMP deaminase deficiency [RCV003634855] Chr1:114673997 [GRCh38]
Chr1:115216618 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.1517T>C (p.Ile506Thr) single nucleotide variant Muscle AMP deaminase deficiency [RCV003518835] Chr1:114675692 [GRCh38]
Chr1:115218313 [GRCh37]
Chr1:1p13.2
uncertain significance
NM_000036.3(AMPD1):c.345T>C (p.Phe115=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003633148] Chr1:114686781 [GRCh38]
Chr1:115229402 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.897+19C>T single nucleotide variant Muscle AMP deaminase deficiency [RCV003634549] Chr1:114679560 [GRCh38]
Chr1:115222181 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.897+16G>A single nucleotide variant Muscle AMP deaminase deficiency [RCV003634698] Chr1:114679563 [GRCh38]
Chr1:115222184 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.547+15A>G single nucleotide variant Muscle AMP deaminase deficiency [RCV003634750] Chr1:114684184 [GRCh38]
Chr1:115226805 [GRCh37]
Chr1:1p13.2
likely benign
NM_000036.3(AMPD1):c.1603T>C (p.Leu535=) single nucleotide variant Muscle AMP deaminase deficiency [RCV003633247] Chr1:114675606 [GRCh38]
Chr1:115218227 [GRCh37]
Chr1:1p13.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:320
Count of miRNA genes:176
Interacting mature miRNAs:177
Transcripts:ENST00000353928, ENST00000369538, ENST00000485564, ENST00000520113
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
CHLC.GGAA25C10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,220,259 - 115,220,506UniSTSGRCh37
Build 361115,021,782 - 115,022,029RGDNCBI36
Celera1113,449,520 - 113,449,767RGD
Cytogenetic Map1p13UniSTS
HuRef1113,078,745 - 113,078,984UniSTS
Whitehead-YAC Contig Map1 UniSTS
D1S2069E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,216,294 - 115,216,673UniSTSGRCh37
Build 361115,017,817 - 115,018,196RGDNCBI36
Celera1113,445,555 - 113,445,934RGD
Cytogenetic Map1p13UniSTS
HuRef1113,074,780 - 113,075,159UniSTS
D1S3310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,215,792 - 115,216,308UniSTSGRCh37
Build 361115,017,315 - 115,017,831RGDNCBI36
Celera1113,445,053 - 113,445,569RGD
Cytogenetic Map1p13UniSTS
HuRef1113,074,278 - 113,074,794UniSTS
AI553520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,216,258 - 115,216,370UniSTSGRCh37
Build 361115,017,781 - 115,017,893RGDNCBI36
Celera1113,445,519 - 113,445,631RGD
HuRef1113,074,744 - 113,074,856UniSTS
AMPD1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371115,217,376 - 115,218,177UniSTSGRCh37
Celera1113,446,637 - 113,447,438UniSTS
HuRef1113,075,862 - 113,076,663UniSTS


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 visual system adipose tissue appendage pharyngeal arch
High 1 2 3 2
Medium 38 6 3 29 29 808 809 3 1 7 5 29 807
Low 679 154 254 180 485 56 172 46 132 35 158 419 124 91 118 2
Below cutoff 1245 2247 1081 281 878 273 2718 981 2304 167 990 848 12 1 977 1608

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA086476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB125879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB158499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB158500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB158501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB158502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB160878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA826076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000369538   ⟹   ENSP00000358551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,673,101 - 114,695,618 (-)Ensembl
RefSeq Acc Id: ENST00000485564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,679,689 - 114,686,999 (-)Ensembl
RefSeq Acc Id: ENST00000520113   ⟹   ENSP00000430075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,673,098 - 114,695,546 (-)Ensembl
RefSeq Acc Id: ENST00000637080   ⟹   ENSP00000489753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,673,090 - 114,695,473 (-)Ensembl
RefSeq Acc Id: ENST00000638214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,673,188 - 114,676,238 (-)Ensembl
RefSeq Acc Id: ENST00000639077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,673,187 - 114,684,489 (-)Ensembl
RefSeq Acc Id: ENST00000639274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1114,673,187 - 114,676,258 (-)Ensembl
RefSeq Acc Id: NM_000036   ⟹   NP_000027
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381114,673,098 - 114,695,546 (-)NCBI
GRCh371115,215,719 - 115,238,239 (-)ENTREZGENE
Build 361115,017,245 - 115,039,699 (-)NCBI Archive
HuRef1113,074,205 - 113,096,714 (-)ENTREZGENE
CHM1_11115,330,528 - 115,353,046 (-)NCBI
T2T-CHM13v2.01114,684,545 - 114,707,007 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172626   ⟹   NP_001166097
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381114,673,098 - 114,695,546 (-)NCBI
GRCh371115,215,719 - 115,238,239 (-)ENTREZGENE
HuRef1113,074,205 - 113,096,714 (-)ENTREZGENE
CHM1_11115,330,528 - 115,353,046 (-)NCBI
T2T-CHM13v2.01114,684,545 - 114,707,007 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001166097   ⟸   NM_001172626
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_000027   ⟸   NM_000036
- Peptide Label: isoform 1
- UniProtKB: Q5TF00 (UniProtKB/Swiss-Prot),   P23109 (UniProtKB/Swiss-Prot),   F2Z3B3 (UniProtKB/Swiss-Prot),   B2RAM1 (UniProtKB/Swiss-Prot),   A8K5N4 (UniProtKB/Swiss-Prot),   Q5TF02 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000489753   ⟸   ENST00000637080
RefSeq Acc Id: ENSP00000430075   ⟸   ENST00000520113
RefSeq Acc Id: ENSP00000358551   ⟸   ENST00000369538

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23109-F1-model_v2 AlphaFold P23109 1-747 view protein structure

Promoters
RGD ID:6856712
Promoter ID:EPDNEW_H1521
Type:multiple initiation site
Name:AMPD1_1
Description:adenosine monophosphate deaminase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381114,695,546 - 114,695,606EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:468 AgrOrtholog
COSMIC AMPD1 COSMIC
Ensembl Genes ENSG00000116748 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000369538 ENTREZGENE
  ENST00000369538.4 UniProtKB/Swiss-Prot
  ENST00000520113 ENTREZGENE
  ENST00000520113.7 UniProtKB/Swiss-Prot
  ENST00000637080.1 UniProtKB/TrEMBL
Gene3D-CATH 4.10.800.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal-dependent hydrolases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116748 GTEx
HGNC ID HGNC:468 ENTREZGENE
Human Proteome Map AMPD1 Human Proteome Map
InterPro A/AMP_deam_AS UniProtKB/Swiss-Prot
  AMPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal_Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:270 UniProtKB/Swiss-Prot
NCBI Gene 270 ENTREZGENE
OMIM 102770 OMIM
PANTHER PTHR11359 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11359:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AMP_deaminase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24776 PharmGKB
PIRSF AMP_deaminase_met UniProtKB/Swiss-Prot
PROSITE A_DEAMINASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51556 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GTL6_HUMAN UniProtKB/TrEMBL
  A8K5N4 ENTREZGENE
  AMPD1_HUMAN UniProtKB/Swiss-Prot
  B2RAM1 ENTREZGENE
  F2Z3B3 ENTREZGENE
  P23109 ENTREZGENE
  Q5TF00 ENTREZGENE
  Q5TF02 ENTREZGENE
  Q5W9V2_HUMAN UniProtKB/TrEMBL
  Q6F4B5_HUMAN UniProtKB/TrEMBL
  Q6F4B6_HUMAN UniProtKB/TrEMBL
  Q6F4B7_HUMAN UniProtKB/TrEMBL
  Q6F4B8_HUMAN UniProtKB/TrEMBL
  Q6F4B9_HUMAN UniProtKB/TrEMBL
  Q6I6Y1_HUMAN UniProtKB/TrEMBL
  Q6I6Y2_HUMAN UniProtKB/TrEMBL
  Q6I6Y3_HUMAN UniProtKB/TrEMBL
  Q6PH79_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K5N4 UniProtKB/Swiss-Prot
  B2RAM1 UniProtKB/Swiss-Prot
  F2Z3B3 UniProtKB/Swiss-Prot
  Q5TF00 UniProtKB/Swiss-Prot
  Q5TF02 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 AMPD1  adenosine monophosphate deaminase 1  AMPD1  adenosine monophosphate deaminase 1 (isoform M)  Symbol and/or name change 5135510 APPROVED