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# | 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. |
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 |
AMPD1 (Homo sapiens - human) |
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Ampd1 (Mus musculus - house mouse) |
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Ampd1 (Rattus norvegicus - Norway rat) |
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Ampd1 (Chinchilla lanigera - long-tailed chinchilla) |
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AMPD1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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AMPD1 (Canis lupus familiaris - dog) |
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Ampd1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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AMPD1 (Sus scrofa - pig) |
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AMPD1 (Chlorocebus sabaeus - green monkey) |
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Ampd1 (Heterocephalus glaber - naked mole-rat) |
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Variants in AMPD1
417 total 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 |
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. |
CHLC.GGAA25C10 |
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D1S2069E |
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D1S3310 |
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AI553520 |
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AMPD1 |
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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 |
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: |
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RefSeq Acc Id: | ENST00000485564 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000520113 ⟹ ENSP00000430075 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000637080 ⟹ ENSP00000489753 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000638214 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000639077 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000639274 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_000036 ⟹ NP_000027 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001172626 ⟹ NP_001166097 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_000027 | (Get FASTA) | NCBI Sequence Viewer |
NP_001166097 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAA57281 | (Get FASTA) | NCBI Sequence Viewer |
AAG24258 | (Get FASTA) | NCBI Sequence Viewer | |
AAH56678 | (Get FASTA) | NCBI Sequence Viewer | |
BAD23974 | (Get FASTA) | NCBI Sequence Viewer | |
BAD23975 | (Get FASTA) | NCBI Sequence Viewer | |
BAD23976 | (Get FASTA) | NCBI Sequence Viewer | |
BAD23977 | (Get FASTA) | NCBI Sequence Viewer | |
BAD27425 | (Get FASTA) | NCBI Sequence Viewer | |
BAD27426 | (Get FASTA) | NCBI Sequence Viewer | |
BAD27427 | (Get FASTA) | NCBI Sequence Viewer | |
BAD27428 | (Get FASTA) | NCBI Sequence Viewer | |
BAD27429 | (Get FASTA) | NCBI Sequence Viewer | |
BAD27430 | (Get FASTA) | NCBI Sequence Viewer | |
BAD69565 | (Get FASTA) | NCBI Sequence Viewer | |
BAF84038 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36918 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56606 | (Get FASTA) | NCBI Sequence Viewer | |
EAW56607 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000358551 | ||
ENSP00000358551.4 | |||
ENSP00000430075 | |||
ENSP00000430075.3 | |||
ENSP00000489753.1 | |||
GenBank Protein | P23109 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P23109-F1-model_v2 | AlphaFold | P23109 | 1-747 | view protein structure |
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: |
|
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 |
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 |