ARMC5 (armadillo repeat containing 5) - Rat Genome Database

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Gene: ARMC5 (armadillo repeat containing 5) Homo sapiens
Analyze
Symbol: ARMC5
Name: armadillo repeat containing 5
RGD ID: 1315235
HGNC Page HGNC:25781
Description: Predicted to be involved in anatomical structure morphogenesis. Predicted to act upstream of or within several processes, including T cell activation; adrenal cortex development; and defense response to virus. Located in cytosol; focal adhesion; and nucleoplasm. Implicated in ACTH-independent macronodular adrenal hyperplasia 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIMAH2; armadillo repeat-containing protein 5; FLJ00019; FLJ13063
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,458,304 - 31,467,167 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,458,080 - 31,467,166 (+)EnsemblGRCh38hg38GRCh38
GRCh371631,469,625 - 31,478,488 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,377,818 - 31,385,989 (+)NCBINCBI36Build 36hg18NCBI36
Build 341631,377,817 - 31,385,988NCBI
Celera1628,829,903 - 28,838,074 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1629,030,520 - 29,038,691 (+)NCBIHuRef
CHM1_11632,788,949 - 32,797,127 (+)NCBICHM1_1
T2T-CHM13v2.01631,845,692 - 31,854,555 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA,IMP)
cytosol  (IBA,IDA)
focal adhesion  (IDA)
membrane  (IEA)
nucleoplasm  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11214971   PMID:12477932   PMID:14702039   PMID:21145461   PMID:21873635   PMID:22939624   PMID:23443559   PMID:24283224   PMID:24601692   PMID:24708098   PMID:24739311   PMID:24905064  
PMID:25544563   PMID:25822102   PMID:25853793   PMID:26186194   PMID:26214113   PMID:26446392   PMID:26604299   PMID:26972000   PMID:27094308   PMID:27568465   PMID:28169274   PMID:28514442  
PMID:28676429   PMID:28786561   PMID:28986522   PMID:29022889   PMID:29370219   PMID:31266387   PMID:32023208   PMID:32117062   PMID:32267363   PMID:32296183   PMID:32436940   PMID:32513696  
PMID:32638579   PMID:32694731   PMID:32901291   PMID:33130828   PMID:33544460   PMID:33961781   PMID:34011540   PMID:34373451   PMID:35256949   PMID:35521700   PMID:35563538   PMID:35687106  
PMID:36040830   PMID:36727580   PMID:37043100   PMID:37625448   PMID:38225631   PMID:38555108   PMID:38630387   PMID:38777146  


Genomics

Comparative Map Data
ARMC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381631,458,304 - 31,467,167 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1631,458,080 - 31,467,166 (+)EnsemblGRCh38hg38GRCh38
GRCh371631,469,625 - 31,478,488 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361631,377,818 - 31,385,989 (+)NCBINCBI36Build 36hg18NCBI36
Build 341631,377,817 - 31,385,988NCBI
Celera1628,829,903 - 28,838,074 (-)NCBICelera
Cytogenetic Map16p11.2NCBI
HuRef1629,030,520 - 29,038,691 (+)NCBIHuRef
CHM1_11632,788,949 - 32,797,127 (+)NCBICHM1_1
T2T-CHM13v2.01631,845,692 - 31,854,555 (+)NCBIT2T-CHM13v2.0
Armc5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397127,836,460 - 127,844,272 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7127,836,514 - 127,844,272 (+)EnsemblGRCm39 Ensembl
GRCm387128,237,357 - 128,245,100 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7128,237,342 - 128,245,100 (+)EnsemblGRCm38mm10GRCm38
MGSCv377135,380,871 - 135,388,614 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367128,028,505 - 128,036,248 (+)NCBIMGSCv36mm8
Celera7128,072,977 - 128,080,584 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map770.06NCBI
Armc5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81192,250,580 - 192,257,347 (+)NCBIGRCr8
mRatBN7.21182,820,141 - 182,826,913 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1182,820,141 - 182,826,907 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1191,170,626 - 191,177,393 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01198,356,717 - 198,363,484 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01191,027,194 - 191,033,961 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01199,655,069 - 199,662,419 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1199,655,660 - 199,662,427 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01206,701,016 - 206,708,366 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41187,496,189 - 187,502,956 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11187,646,069 - 187,652,836 (+)NCBI
Celera1180,466,117 - 180,472,884 (+)NCBICelera
Cytogenetic Map1q37NCBI
Armc5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554938,295,868 - 8,304,520 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554938,295,868 - 8,302,638 (+)NCBIChiLan1.0ChiLan1.0
ARMC5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21834,657,013 - 34,676,566 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11639,467,340 - 39,477,993 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01623,498,343 - 23,507,287 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11631,828,015 - 31,837,845 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1631,828,037 - 31,840,479 (+)Ensemblpanpan1.1panPan2
ARMC5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,782,732 - 16,789,490 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,781,860 - 16,788,878 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha618,375,841 - 18,383,039 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0616,907,572 - 16,914,772 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl616,907,580 - 16,913,596 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1616,711,148 - 16,718,363 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0616,630,761 - 16,637,957 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0616,942,497 - 16,949,700 (-)NCBIUU_Cfam_GSD_1.0
Armc5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344125,674,012 - 125,681,772 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365438,354,760 - 8,361,269 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365438,354,795 - 8,366,123 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARMC5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl317,100,618 - 17,109,054 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1317,100,612 - 17,108,523 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ARMC5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1528,159,796 - 28,167,575 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl528,160,617 - 28,167,672 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660681,272,573 - 1,281,211 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Armc5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478214,462,114 - 14,468,404 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478214,461,488 - 14,468,407 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ARMC5
201 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001105247.2(ARMC5):c.1864+112G>A single nucleotide variant not provided [RCV000519892] Chr16:31464999 [GRCh38]
Chr16:31476320 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.928_929delinsAA (p.Ala310Asn) indel not provided [RCV000722530] Chr16:31462475..31462476 [GRCh38]
Chr16:31473796..31473797 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.469C>T (p.Pro157Ser) single nucleotide variant ARMC5-related disorder [RCV003397543] Chr16:31459993 [GRCh38]
Chr16:31471314 [GRCh37]
Chr16:31378815 [NCBI36]
Chr16:16p11.2		 uncertain significance|not provided
NM_001105247.1(ARMC5):c.584G>A (p.Gly195Asp) single nucleotide variant Malignant melanoma [RCV000071108] Chr16:31462131 [GRCh38]
Chr16:31473452 [GRCh37]
Chr16:31380953 [NCBI36]
Chr16:16p11.2		 not provided
NM_001105247.1(ARMC5):c.2291G>T (p.Arg764Leu) single nucleotide variant Malignant melanoma [RCV000071109] Chr16:31466372 [GRCh38]
Chr16:31477693 [GRCh37]
Chr16:31385194 [NCBI36]
Chr16:16p11.2		 not provided
NM_001105247.1(ARMC5):c.2619C>T (p.Phe873=) single nucleotide variant Malignant melanoma [RCV000071110] Chr16:31466700 [GRCh38]
Chr16:31478021 [GRCh37]
Chr16:31385522 [NCBI36]
Chr16:16p11.2		 not provided
NM_001105247.1(ARMC5):c.2800C>T (p.Pro934Ser) single nucleotide variant Malignant melanoma [RCV000071111] Chr16:31466881 [GRCh38]
Chr16:31478202 [GRCh37]
Chr16:31385703 [NCBI36]
Chr16:16p11.2		 not provided
NM_024742.2(ARMC5):c.2029C>T (p.Pro677Ser) single nucleotide variant Malignant melanoma [RCV000063026] Chr16:31465052 [GRCh38]
Chr16:31476373 [GRCh37]
Chr16:31383874 [NCBI36]
Chr16:16p11.2		 not provided
NM_001105247.2(ARMC5):c.799C>T (p.Arg267Ter) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133557] Chr16:31462346 [GRCh38]
Chr16:31473667 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.2692C>T (p.Arg898Trp) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133558] Chr16:31466773 [GRCh38]
Chr16:31478094 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.256C>T (p.Gln86Ter) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133559] Chr16:31459780 [GRCh38]
Chr16:31471101 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.1643T>C (p.Leu548Pro) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133560] Chr16:31464666 [GRCh38]
Chr16:31475987 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.170del (p.Gly57fs) deletion ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133561] Chr16:31459689 [GRCh38]
Chr16:31471010 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.1777C>T (p.Arg593Trp) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133562] Chr16:31464800 [GRCh38]
Chr16:31476121 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.1094T>C (p.Leu365Pro) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV000133563] Chr16:31462641 [GRCh38]
Chr16:31473962 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3 copy number gain See cases [RCV000133811] Chr16:30691912..36160463 [GRCh38]
Chr16:30703233..35147508 [GRCh37]
Chr16:30610734..35005009 [NCBI36]
Chr16:16p11.2-11.1		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:31154186-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207245] Chr16:31154186..31926800 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1597del (p.Ser533fs) deletion not provided [RCV000722211] Chr16:31464617 [GRCh38]
Chr16:31475938 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Branched-chain keto acid dehydrogenase kinase deficiency [RCV000735205] Chr16:30554158..31536880 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+56del deletion not provided [RCV000722679] Chr16:31464939 [GRCh38]
Chr16:31476260 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30830287-31827011)x4 copy number gain See cases [RCV000447708] Chr16:30830287..31827011 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1 copy number loss See cases [RCV000448084] Chr16:28826162..29043901 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001105247.2(ARMC5):c.1311G>T (p.Trp437Cys) single nucleotide variant Inborn genetic diseases [RCV003241180] Chr16:31462858 [GRCh38]
Chr16:31474179 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1523G>C (p.Gly508Ala) single nucleotide variant Inborn genetic diseases [RCV003260664] Chr16:31464546 [GRCh38]
Chr16:31475867 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1606C>T (p.Pro536Ser) single nucleotide variant Inborn genetic diseases [RCV003242182] Chr16:31464629 [GRCh38]
Chr16:31475950 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1136G>A (p.Arg379Gln) single nucleotide variant Inborn genetic diseases [RCV003249212] Chr16:31462683 [GRCh38]
Chr16:31474004 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p11.2(chr16:30738551-34194635)x3 copy number gain not provided [RCV000739123] Chr16:30738551..34194635 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.57C>T (p.Leu19=) single nucleotide variant not provided [RCV000900443] Chr16:31459581 [GRCh38]
Chr16:31470902 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.63G>A (p.Ala21=) single nucleotide variant not provided [RCV000973537] Chr16:31459587 [GRCh38]
Chr16:31470908 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.968G>C (p.Gly323Ala) single nucleotide variant ARMC5-related disorder [RCV003933117]|not provided [RCV000922830] Chr16:31462515 [GRCh38]
Chr16:31473836 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.1503A>G (p.Pro501=) single nucleotide variant not provided [RCV000942212] Chr16:31464526 [GRCh38]
Chr16:31475847 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.121A>G (p.Ser41Gly) single nucleotide variant ARMC5-related disorder [RCV003968335]|not provided [RCV000906869] Chr16:31459645 [GRCh38]
Chr16:31470966 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.1884C>T (p.Asn628=) single nucleotide variant ARMC5-related disorder [RCV004753099]|not provided [RCV000902338] Chr16:31465869 [GRCh38]
Chr16:31477190 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1767_1771dup (p.Leu591fs) microsatellite ACTH-independent macronodular adrenal hyperplasia 2 [RCV000825504] Chr16:31464784..31464785 [GRCh38]
Chr16:31476105..31476106 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.858C>T (p.Leu286=) single nucleotide variant ARMC5-related disorder [RCV003940549]|not provided [RCV000886502] Chr16:31462405 [GRCh38]
Chr16:31473726 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1676C>T (p.Pro559Leu) single nucleotide variant ARMC5-related disorder [RCV003916149]|not provided [RCV000964224] Chr16:31464699 [GRCh38]
Chr16:31476020 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2326G>A (p.Ala776Thr) single nucleotide variant not provided [RCV000879707] Chr16:31466407 [GRCh38]
Chr16:31477728 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1069C>T (p.Arg357Cys) single nucleotide variant not provided [RCV000920055] Chr16:31462616 [GRCh38]
Chr16:31473937 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1491G>A (p.Ser497=) single nucleotide variant ARMC5-related disorder [RCV003960540]|not provided [RCV000940339] Chr16:31464514 [GRCh38]
Chr16:31475835 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2449C>T (p.Leu817=) single nucleotide variant not provided [RCV000896313] Chr16:31466530 [GRCh38]
Chr16:31477851 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1683G>A (p.Pro561=) single nucleotide variant not provided [RCV000954159] Chr16:31464706 [GRCh38]
Chr16:31476027 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1515C>T (p.Arg505=) single nucleotide variant not provided [RCV000967412] Chr16:31464538 [GRCh38]
Chr16:31475859 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1563C>T (p.Arg521=) single nucleotide variant not provided [RCV000905105] Chr16:31464586 [GRCh38]
Chr16:31475907 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.328G>A (p.Ala110Thr) single nucleotide variant not provided [RCV000907700] Chr16:31459852 [GRCh38]
Chr16:31471173 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.537G>A (p.Gly179=) single nucleotide variant not provided [RCV000896809] Chr16:31461983 [GRCh38]
Chr16:31473304 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1227T>C (p.Ala409=) single nucleotide variant not provided [RCV000919582] Chr16:31462774 [GRCh38]
Chr16:31474095 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1317T>C (p.Phe439=) single nucleotide variant not provided [RCV000915883] Chr16:31462864 [GRCh38]
Chr16:31474185 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1084C>T (p.Arg362Trp) single nucleotide variant not provided [RCV000782243] Chr16:31462631 [GRCh38]
Chr16:31473952 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2457C>T (p.Pro819=) single nucleotide variant not provided [RCV000897196] Chr16:31466538 [GRCh38]
Chr16:31477859 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.2378G>A (p.Arg793Gln) single nucleotide variant not provided [RCV001573773] Chr16:31466459 [GRCh38]
Chr16:31477780 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2256C>T (p.Phe752=) single nucleotide variant not provided [RCV000974537] Chr16:31466337 [GRCh38]
Chr16:31477658 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.858C>A (p.Leu286=) single nucleotide variant not provided [RCV000932468] Chr16:31462405 [GRCh38]
Chr16:31473726 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2393G>C (p.Gly798Ala) single nucleotide variant not provided [RCV000967413] Chr16:31466474 [GRCh38]
Chr16:31477795 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.174C>T (p.Ile58=) single nucleotide variant ARMC5-related disorder [RCV003930648]|not provided [RCV000885510] Chr16:31459698 [GRCh38]
Chr16:31471019 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.1641G>A (p.Ala547=) single nucleotide variant not provided [RCV000894431] Chr16:31464664 [GRCh38]
Chr16:31475985 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.1585C>T (p.Leu529=) single nucleotide variant not provided [RCV000919938] Chr16:31464608 [GRCh38]
Chr16:31475929 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1223A>G (p.Gln408Arg) single nucleotide variant ARMC5-related disorder [RCV003935984]|not provided [RCV000964433] Chr16:31462770 [GRCh38]
Chr16:31474091 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.1495C>T (p.Arg499Trp) single nucleotide variant ARMC5-related disorder [RCV003940599]|Inborn genetic diseases [RCV002539375]|not provided [RCV000888311] Chr16:31464518 [GRCh38]
Chr16:31475839 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.2790G>A (p.Gly930=) single nucleotide variant not provided [RCV000886882] Chr16:31466871 [GRCh38]
Chr16:31478192 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.294G>T (p.Ser98=) single nucleotide variant not provided [RCV000888351] Chr16:31459818 [GRCh38]
Chr16:31471139 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1145G>A (p.Arg382His) single nucleotide variant not provided [RCV000908145] Chr16:31462692 [GRCh38]
Chr16:31474013 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.915C>T (p.Leu305=) single nucleotide variant not provided [RCV000981391] Chr16:31462462 [GRCh38]
Chr16:31473783 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2073G>A (p.Pro691=) single nucleotide variant not provided [RCV000880152] Chr16:31466154 [GRCh38]
Chr16:31477475 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.288C>G (p.Ala96=) single nucleotide variant ARMC5-related disorder [RCV003958259]|not provided [RCV000907649] Chr16:31459812 [GRCh38]
Chr16:31471133 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.438G>A (p.Arg146=) single nucleotide variant not provided [RCV000965328] Chr16:31459962 [GRCh38]
Chr16:31471283 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1152C>T (p.Ser384=) single nucleotide variant ARMC5-related disorder [RCV003958345]|not provided [RCV000913215] Chr16:31462699 [GRCh38]
Chr16:31474020 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.177G>A (p.Glu59=) single nucleotide variant ARMC5-related disorder [RCV003942919]|not provided [RCV000933631] Chr16:31459701 [GRCh38]
Chr16:31471022 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2469A>G (p.Pro823=) single nucleotide variant ARMC5-related disorder [RCV003933180]|not provided [RCV000933632] Chr16:31466550 [GRCh38]
Chr16:31477871 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.969C>T (p.Gly323=) single nucleotide variant ARMC5-related disorder [RCV003923193]|not provided [RCV000913593] Chr16:31462516 [GRCh38]
Chr16:31473837 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.2103C>T (p.Ala701=) single nucleotide variant not provided [RCV000913450] Chr16:31466184 [GRCh38]
Chr16:31477505 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1740C>T (p.Leu580=) single nucleotide variant ARMC5-related disorder [RCV003932987]|not provided [RCV000911668] Chr16:31464763 [GRCh38]
Chr16:31476084 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.466C>T (p.Leu156Phe) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV002502980]|not provided [RCV000957406] Chr16:31459990 [GRCh38]
Chr16:31471311 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.729C>T (p.Ala243=) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV002502981]|not provided [RCV000957407] Chr16:31462276 [GRCh38]
Chr16:31473597 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.2040T>C (p.Gly680=) single nucleotide variant not provided [RCV000957408] Chr16:31466121 [GRCh38]
Chr16:31477442 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1590G>A (p.Ser530=) single nucleotide variant not provided [RCV000912246] Chr16:31464613 [GRCh38]
Chr16:31475934 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2283T>G (p.Pro761=) single nucleotide variant not provided [RCV000935075] Chr16:31466364 [GRCh38]
Chr16:31477685 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p11.2(chr16:30350747-31905898)x3 copy number gain not provided [RCV001258619] Chr16:30350747..31905898 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+198T>A single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV001334774]|ARMC5-related disorder [RCV003918860] Chr16:31465085 [GRCh38]
Chr16:31476406 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.2105C>A (p.Ala702Glu) single nucleotide variant Macronodular adrenal hyperplasia [RCV001839471] Chr16:31466186 [GRCh38]
Chr16:31477507 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.2657G>A (p.Arg886His) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV001334775] Chr16:31466738 [GRCh38]
Chr16:31478059 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1724_1753delinsAT (p.Cys575fs) indel Cushing syndrome due to macronodular adrenal hyperplasia [RCV001507096] Chr16:31464747..31464776 [GRCh38]
Chr16:31476068..31476097 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.968G>A (p.Gly323Asp) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV002271676] Chr16:31462515 [GRCh38]
Chr16:31473836 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.1371-3C>A single nucleotide variant ARMC5-related disorder [RCV003418419]|Hereditary cancer-predisposing syndrome [RCV003994416] Chr16:31464391 [GRCh38]
Chr16:31475712 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser) single nucleotide variant ARMC5-related disorder [RCV003916408]|not specified [RCV002247027] Chr16:31462586 [GRCh38]
Chr16:31473907 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_001105247.2(ARMC5):c.2432G>C (p.Arg811Pro) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV002271678] Chr16:31466513 [GRCh38]
Chr16:31477834 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.2192C>G (p.Pro731Arg) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV002496073]|ARMC5-related disorder [RCV003931313]|not provided [RCV001757893] Chr16:31466273 [GRCh38]
Chr16:31477594 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105247.2(ARMC5):c.439A>G (p.Thr147Ala) single nucleotide variant ARMC5-related disorder [RCV004753385]|not provided [RCV001758765] Chr16:31459963 [GRCh38]
Chr16:31471284 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.97C>T (p.Pro33Ser) single nucleotide variant ARMC5-related disorder [RCV003954079]|Inborn genetic diseases [RCV003276805] Chr16:31459621 [GRCh38]
Chr16:31470942 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.2312C>T (p.Ser771Phe) single nucleotide variant not provided [RCV001769357] Chr16:31466393 [GRCh38]
Chr16:31477714 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.962C>T (p.Ala321Val) single nucleotide variant Inborn genetic diseases [RCV003198668] Chr16:31462509 [GRCh38]
Chr16:31473830 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2290C>T (p.Arg764Ter) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV001784800] Chr16:31466371 [GRCh38]
Chr16:31477692 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.41T>A (p.Phe14Tyr) single nucleotide variant not provided [RCV004716828]|not specified [RCV001795690] Chr16:31459565 [GRCh38]
Chr16:31470886 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.508A>G (p.Ile170Val) single nucleotide variant not provided [RCV004715567]|not specified [RCV001795723] Chr16:31461954 [GRCh38]
Chr16:31473275 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.2294C>T (p.Ala765Val) single nucleotide variant not provided [RCV001758708] Chr16:31466375 [GRCh38]
Chr16:31477696 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1787T>G (p.Leu596Arg) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV002271677] Chr16:31464810 [GRCh38]
Chr16:31476131 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.1864+113del deletion not specified [RCV002246979] Chr16:31465000 [GRCh38]
Chr16:31476321 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.174dup (p.Glu59fs) duplication ACTH-independent macronodular adrenal hyperplasia 2 [RCV002271679] Chr16:31459697..31459698 [GRCh38]
Chr16:31471018..31471019 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.283_286del (p.Ser95fs) deletion ACTH-independent macronodular adrenal hyperplasia 2 [RCV002271682] Chr16:31459806..31459809 [GRCh38]
Chr16:31471127..31471130 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.2025del (p.Leu676fs) deletion ACTH-independent macronodular adrenal hyperplasia 2 [RCV002271680] Chr16:31466105 [GRCh38]
Chr16:31477426 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.2436del (p.Cys813fs) deletion ACTH-independent macronodular adrenal hyperplasia 2 [RCV002260931] Chr16:31466513 [GRCh38]
Chr16:31477834 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.1679G>A (p.Gly560Asp) single nucleotide variant Inborn genetic diseases [RCV003261230] Chr16:31464702 [GRCh38]
Chr16:31476023 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1199_1224dup (p.Ala409fs) duplication ACTH-independent macronodular adrenal hyperplasia 2 [RCV002466882] Chr16:31462744..31462745 [GRCh38]
Chr16:31474065..31474066 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.337_338dup (p.Val114fs) duplication ACTH-independent macronodular adrenal hyperplasia 2 [RCV002466780] Chr16:31459859..31459860 [GRCh38]
Chr16:31471180..31471181 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.1508C>T (p.Thr503Ile) single nucleotide variant Inborn genetic diseases [RCV002729222] Chr16:31464531 [GRCh38]
Chr16:31475852 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.433T>A (p.Cys145Ser) single nucleotide variant Inborn genetic diseases [RCV002773588] Chr16:31459957 [GRCh38]
Chr16:31471278 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.753T>A (p.Asp251Glu) single nucleotide variant Inborn genetic diseases [RCV002865390] Chr16:31462300 [GRCh38]
Chr16:31473621 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.784C>T (p.Leu262Phe) single nucleotide variant Inborn genetic diseases [RCV002865636] Chr16:31462331 [GRCh38]
Chr16:31473652 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1004G>A (p.Arg335Gln) single nucleotide variant Inborn genetic diseases [RCV002840801] Chr16:31462551 [GRCh38]
Chr16:31473872 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1514G>T (p.Arg505Leu) single nucleotide variant ARMC5-related disorder [RCV003936642]|Inborn genetic diseases [RCV002707752] Chr16:31464537 [GRCh38]
Chr16:31475858 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.1499C>T (p.Ala500Val) single nucleotide variant Inborn genetic diseases [RCV002704805] Chr16:31464522 [GRCh38]
Chr16:31475843 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2143A>C (p.Thr715Pro) single nucleotide variant Inborn genetic diseases [RCV002977976] Chr16:31466224 [GRCh38]
Chr16:31477545 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.392T>G (p.Leu131Trp) single nucleotide variant Inborn genetic diseases [RCV002704273] Chr16:31459916 [GRCh38]
Chr16:31471237 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2744C>T (p.Pro915Leu) single nucleotide variant Inborn genetic diseases [RCV002868323] Chr16:31466825 [GRCh38]
Chr16:31478146 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.17C>T (p.Pro6Leu) single nucleotide variant Inborn genetic diseases [RCV002694393] Chr16:31459541 [GRCh38]
Chr16:31470862 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1486A>C (p.Thr496Pro) single nucleotide variant Inborn genetic diseases [RCV002764364] Chr16:31464509 [GRCh38]
Chr16:31475830 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2403G>T (p.Trp801Cys) single nucleotide variant Inborn genetic diseases [RCV003003651] Chr16:31466484 [GRCh38]
Chr16:31477805 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.479C>T (p.Thr160Ile) single nucleotide variant Inborn genetic diseases [RCV002929886] Chr16:31461925 [GRCh38]
Chr16:31473246 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.797G>C (p.Ser266Thr) single nucleotide variant ARMC5-related disorder [RCV003410172]|Inborn genetic diseases [RCV002788598] Chr16:31462344 [GRCh38]
Chr16:31473665 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1097G>A (p.Arg366Gln) single nucleotide variant Inborn genetic diseases [RCV002763742] Chr16:31462644 [GRCh38]
Chr16:31473965 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2585C>T (p.Pro862Leu) single nucleotide variant Inborn genetic diseases [RCV002930467] Chr16:31466666 [GRCh38]
Chr16:31477987 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2245G>A (p.Asp749Asn) single nucleotide variant Inborn genetic diseases [RCV002641274] Chr16:31466326 [GRCh38]
Chr16:31477647 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2387C>T (p.Ser796Leu) single nucleotide variant Inborn genetic diseases [RCV002934086] Chr16:31466468 [GRCh38]
Chr16:31477789 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2069G>A (p.Arg690Gln) single nucleotide variant ARMC5-related disorder [RCV003410242]|Inborn genetic diseases [RCV002714508] Chr16:31466150 [GRCh38]
Chr16:31477471 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1144C>T (p.Arg382Cys) single nucleotide variant Inborn genetic diseases [RCV002831701] Chr16:31462691 [GRCh38]
Chr16:31474012 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.108C>G (p.Asn36Lys) single nucleotide variant ARMC5-related disorder [RCV003946364]|Inborn genetic diseases [RCV002747996] Chr16:31459632 [GRCh38]
Chr16:31470953 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.1631C>T (p.Thr544Ile) single nucleotide variant Inborn genetic diseases [RCV002703495] Chr16:31464654 [GRCh38]
Chr16:31475975 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1817C>T (p.Pro606Leu) single nucleotide variant ARMC5-related disorder [RCV003434669]|Inborn genetic diseases [RCV003010733] Chr16:31464840 [GRCh38]
Chr16:31476161 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1889C>A (p.Thr630Lys) single nucleotide variant ARMC5-related disorder [RCV003918990]|Inborn genetic diseases [RCV002679567] Chr16:31465874 [GRCh38]
Chr16:31477195 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_001105247.2(ARMC5):c.65C>T (p.Ala22Val) single nucleotide variant Inborn genetic diseases [RCV002679257] Chr16:31459589 [GRCh38]
Chr16:31470910 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.289G>A (p.Ala97Thr) single nucleotide variant Inborn genetic diseases [RCV003203880] Chr16:31459813 [GRCh38]
Chr16:31471134 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.164C>T (p.Ala55Val) single nucleotide variant ARMC5-related disorder [RCV003434722]|Inborn genetic diseases [RCV003207331] Chr16:31459688 [GRCh38]
Chr16:31471009 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.239C>T (p.Ala80Val) single nucleotide variant Inborn genetic diseases [RCV003199796] Chr16:31459763 [GRCh38]
Chr16:31471084 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1000C>T (p.Arg334Cys) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV003141541] Chr16:31462547 [GRCh38]
Chr16:31473868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.89A>G (p.Glu30Gly) single nucleotide variant Inborn genetic diseases [RCV003190071] Chr16:31459613 [GRCh38]
Chr16:31470934 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.517C>T (p.Arg173Ter) single nucleotide variant not provided [RCV003322057] Chr16:31461963 [GRCh38]
Chr16:31473284 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.2635C>T (p.Arg879Trp) single nucleotide variant Inborn genetic diseases [RCV003309829] Chr16:31466716 [GRCh38]
Chr16:31478037 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2261T>C (p.Leu754Pro) single nucleotide variant not provided [RCV003322060] Chr16:31466342 [GRCh38]
Chr16:31477663 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.973G>A (p.Glu325Lys) single nucleotide variant Inborn genetic diseases [RCV003342790] Chr16:31462520 [GRCh38]
Chr16:31473841 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.193G>A (p.Gly65Ser) single nucleotide variant Inborn genetic diseases [RCV003379500] Chr16:31459717 [GRCh38]
Chr16:31471038 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2047C>T (p.Leu683Phe) single nucleotide variant Inborn genetic diseases [RCV003377281] Chr16:31466128 [GRCh38]
Chr16:31477449 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.58G>A (p.Ala20Thr) single nucleotide variant ARMC5-related disorder [RCV003420960] Chr16:31459582 [GRCh38]
Chr16:31470903 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.432G>T (p.Ala144=) single nucleotide variant ARMC5-related disorder [RCV004753686]|not provided [RCV003456929] Chr16:31459956 [GRCh38]
Chr16:31471277 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1456A>C (p.Met486Leu) single nucleotide variant not specified [RCV003479883] Chr16:31464479 [GRCh38]
Chr16:31475800 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1771C>T (p.Leu591=) single nucleotide variant not specified [RCV003479888] Chr16:31464794 [GRCh38]
Chr16:31476115 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001301820.1(ARMC5):c.39G>A (p.Lys13=) single nucleotide variant ARMC5-related disorder [RCV003421022] Chr16:31459340 [GRCh38]
Chr16:31470661 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+168C>T single nucleotide variant ARMC5-related disorder [RCV003418900] Chr16:31465055 [GRCh38]
Chr16:31476376 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1505G>A (p.Arg502His) single nucleotide variant ARMC5-related disorder [RCV003419197] Chr16:31464528 [GRCh38]
Chr16:31475849 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1575C>G (p.Ala525=) single nucleotide variant not provided [RCV003411341] Chr16:31464598 [GRCh38]
Chr16:31475919 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1780G>C (p.Ala594Pro) single nucleotide variant ARMC5-related disorder [RCV003402395] Chr16:31464803 [GRCh38]
Chr16:31476124 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1769C>T (p.Ala590Val) single nucleotide variant ARMC5-related disorder [RCV003408798] Chr16:31464792 [GRCh38]
Chr16:31476113 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+179C>A single nucleotide variant ARMC5-related disorder [RCV003397678] Chr16:31465066 [GRCh38]
Chr16:31476387 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+297G>T single nucleotide variant ARMC5-related disorder [RCV003392814] Chr16:31465184 [GRCh38]
Chr16:31476505 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1502C>T (p.Pro501Leu) single nucleotide variant ARMC5-related disorder [RCV003414286] Chr16:31464525 [GRCh38]
Chr16:31475846 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1502del (p.Pro501fs) deletion ARMC5-related disorder [RCV003416922] Chr16:31464524 [GRCh38]
Chr16:31475845 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.1446G>A (p.Pro482=) single nucleotide variant ARMC5-related disorder [RCV004753679]|not provided [RCV003426684] Chr16:31464469 [GRCh38]
Chr16:31475790 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(31476209_31477170)_(31478487_?)dup duplication not specified [RCV004800170] Chr16:31477170..31478487 [GRCh37]
Chr16:16p11.2		 benign
GRCh37/hg19 16p11.2(chr16:31451337-31491435)x1 copy number loss not specified [RCV003987152] Chr16:31451337..31491435 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+248C>T single nucleotide variant ARMC5-related disorder [RCV003947358] Chr16:31465135 [GRCh38]
Chr16:31476456 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.202C>T (p.Arg68Cys) single nucleotide variant Inborn genetic diseases [RCV004418001] Chr16:31459726 [GRCh38]
Chr16:31471047 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1012A>G (p.Asn338Asp) single nucleotide variant Inborn genetic diseases [RCV004417994] Chr16:31462559 [GRCh38]
Chr16:31473880 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1153G>T (p.Ala385Ser) single nucleotide variant Inborn genetic diseases [RCV004417995] Chr16:31462700 [GRCh38]
Chr16:31474021 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1490C>T (p.Ser497Leu) single nucleotide variant Inborn genetic diseases [RCV004417996] Chr16:31464513 [GRCh38]
Chr16:31475834 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.166G>C (p.Gly56Arg) single nucleotide variant Inborn genetic diseases [RCV004417998] Chr16:31459690 [GRCh38]
Chr16:31471011 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1889C>T (p.Thr630Met) single nucleotide variant Inborn genetic diseases [RCV004418000] Chr16:31465874 [GRCh38]
Chr16:31477195 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+155C>T single nucleotide variant ARMC5-related disorder [RCV003949590] Chr16:31465042 [GRCh38]
Chr16:31476363 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2195C>T (p.Ser732Phe) single nucleotide variant ARMC5-related disorder [RCV003901431] Chr16:31466276 [GRCh38]
Chr16:31477597 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.513G>A (p.Gln171=) single nucleotide variant ARMC5-related disorder [RCV003967121] Chr16:31461959 [GRCh38]
Chr16:31473280 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001301820.1(ARMC5):c.24A>C (p.Gly8=) single nucleotide variant ARMC5-related disorder [RCV003921901] Chr16:31459325 [GRCh38]
Chr16:31470646 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2233G>A (p.Val745Ile) single nucleotide variant Inborn genetic diseases [RCV004418002] Chr16:31466314 [GRCh38]
Chr16:31477635 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1473C>T (p.Pro491=) single nucleotide variant ARMC5-related disorder [RCV003896787] Chr16:31464496 [GRCh38]
Chr16:31475817 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.237A>G (p.Ala79=) single nucleotide variant ARMC5-related disorder [RCV003901989] Chr16:31459761 [GRCh38]
Chr16:31471082 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.308C>T (p.Pro103Leu) single nucleotide variant Inborn genetic diseases [RCV004418003] Chr16:31459832 [GRCh38]
Chr16:31471153 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.70G>A (p.Gly24Arg) single nucleotide variant Inborn genetic diseases [RCV004418007] Chr16:31459594 [GRCh38]
Chr16:31470915 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.748C>T (p.Pro250Ser) single nucleotide variant Inborn genetic diseases [RCV004418008] Chr16:31462295 [GRCh38]
Chr16:31473616 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+289C>T single nucleotide variant ARMC5-related disorder [RCV003983418] Chr16:31465176 [GRCh38]
Chr16:31476497 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2257C>T (p.Leu753=) single nucleotide variant ARMC5-related disorder [RCV003893690] Chr16:31466338 [GRCh38]
Chr16:31477659 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2704C>T (p.Leu902=) single nucleotide variant ARMC5-related disorder [RCV003921553] Chr16:31466785 [GRCh38]
Chr16:31478106 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2307C>T (p.Thr769=) single nucleotide variant ARMC5-related disorder [RCV003902062] Chr16:31466388 [GRCh38]
Chr16:31477709 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.282G>C (p.Ser94=) single nucleotide variant ARMC5-related disorder [RCV003904507] Chr16:31459806 [GRCh38]
Chr16:31471127 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.909G>C (p.Leu303=) single nucleotide variant ARMC5-related disorder [RCV003934040] Chr16:31462456 [GRCh38]
Chr16:31473777 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1786C>T (p.Leu596=) single nucleotide variant ARMC5-related disorder [RCV003896584] Chr16:31464809 [GRCh38]
Chr16:31476130 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2074G>T (p.Ala692Ser) single nucleotide variant ARMC5-related disorder [RCV003927354] Chr16:31466155 [GRCh38]
Chr16:31477476 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1864+95C>T single nucleotide variant ARMC5-related disorder [RCV003981698] Chr16:31464982 [GRCh38]
Chr16:31476303 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.327dup (p.Ala110fs) duplication ARMC5-related disorder [RCV003896752] Chr16:31459847..31459848 [GRCh38]
Chr16:31471168..31471169 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.2058G>A (p.Ala686=) single nucleotide variant ARMC5-related disorder [RCV003917199] Chr16:31466139 [GRCh38]
Chr16:31477460 [GRCh37]
Chr16:16p11.2		 benign
NM_001301820.1(ARMC5):c.21A>C (p.Pro7=) single nucleotide variant ARMC5-related disorder [RCV003893625] Chr16:31459322 [GRCh38]
Chr16:31470643 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1671C>T (p.Gly557=) single nucleotide variant ARMC5-related disorder [RCV003904668] Chr16:31464694 [GRCh38]
Chr16:31476015 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.621C>T (p.Cys207=) single nucleotide variant ARMC5-related disorder [RCV003893989] Chr16:31462168 [GRCh38]
Chr16:31473489 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2172C>T (p.Val724=) single nucleotide variant ARMC5-related disorder [RCV003956921] Chr16:31466253 [GRCh38]
Chr16:31477574 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1864+66A>G single nucleotide variant ARMC5-related disorder [RCV003972316] Chr16:31464953 [GRCh38]
Chr16:31476274 [GRCh37]
Chr16:16p11.2		 benign
NM_001105247.2(ARMC5):c.1647C>T (p.Tyr549=) single nucleotide variant ARMC5-related disorder [RCV003907140] Chr16:31464670 [GRCh38]
Chr16:31475991 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.910A>G (p.Ile304Val) single nucleotide variant ARMC5-related disorder [RCV003949485] Chr16:31462457 [GRCh38]
Chr16:31473778 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2106G>A (p.Ala702=) single nucleotide variant ARMC5-related disorder [RCV003949569] Chr16:31466187 [GRCh38]
Chr16:31477508 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.583G>C (p.Gly195Arg) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV003993555] Chr16:31462029 [GRCh38]
Chr16:31473350 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1090C>T (p.Arg364Ter) single nucleotide variant ARMC5-related disorder [RCV003944300] Chr16:31462637 [GRCh38]
Chr16:31473958 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_001105247.2(ARMC5):c.1973C>T (p.Ala658Val) single nucleotide variant ARMC5-related disorder [RCV003901904] Chr16:31465958 [GRCh38]
Chr16:31477279 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1479G>A (p.Pro493=) single nucleotide variant ARMC5-related disorder [RCV003921931]|not provided [RCV004810590] Chr16:31464502 [GRCh38]
Chr16:31475823 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.645C>T (p.Ser215=) single nucleotide variant ARMC5-related disorder [RCV003967192] Chr16:31462192 [GRCh38]
Chr16:31473513 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1534GCC[4] (p.Ala514_Ile515insAla) microsatellite ARMC5-related disorder [RCV003951789] Chr16:31464554..31464555 [GRCh38]
Chr16:31475875..31475876 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1682C>T (p.Pro561Leu) single nucleotide variant Inborn genetic diseases [RCV004417999] Chr16:31464705 [GRCh38]
Chr16:31476026 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.606G>C (p.Glu202Asp) single nucleotide variant Inborn genetic diseases [RCV004418005] Chr16:31462153 [GRCh38]
Chr16:31473474 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.616G>T (p.Ala206Ser) single nucleotide variant ARMC5-related disorder [RCV004753748]|Inborn genetic diseases [RCV004418006] Chr16:31462163 [GRCh38]
Chr16:31473484 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.723G>T (p.Pro241=) single nucleotide variant ARMC5-related disorder [RCV003909728] Chr16:31462270 [GRCh38]
Chr16:31473591 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.257A>T (p.Gln86Leu) single nucleotide variant ARMC5-related disorder [RCV003969082] Chr16:31459781 [GRCh38]
Chr16:31471102 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2548G>T (p.Glu850Ter) single nucleotide variant ACTH-independent macronodular adrenal hyperplasia 2 [RCV004584295] Chr16:31466629 [GRCh38]
Chr16:31477950 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1478C>T (p.Pro493Leu) single nucleotide variant Inborn genetic diseases [RCV004661029] Chr16:31464501 [GRCh38]
Chr16:31475822 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.1453C>G (p.Pro485Ala) single nucleotide variant Inborn genetic diseases [RCV004661045] Chr16:31464476 [GRCh38]
Chr16:31475797 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.109G>A (p.Glu37Lys) single nucleotide variant Inborn genetic diseases [RCV004661066] Chr16:31459633 [GRCh38]
Chr16:31470954 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1317T>A (p.Phe439Leu) single nucleotide variant Inborn genetic diseases [RCV004661078] Chr16:31462864 [GRCh38]
Chr16:31474185 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1545C>G (p.Ile515Met) single nucleotide variant Inborn genetic diseases [RCV004661071] Chr16:31464568 [GRCh38]
Chr16:31475889 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1535C>T (p.Ala512Val) single nucleotide variant Inborn genetic diseases [RCV004661053] Chr16:31464558 [GRCh38]
Chr16:31475879 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2018G>A (p.Arg673Gln) single nucleotide variant Inborn genetic diseases [RCV004674317] Chr16:31466099 [GRCh38]
Chr16:31477420 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1153G>A (p.Ala385Thr) single nucleotide variant Inborn genetic diseases [RCV004661068] Chr16:31462700 [GRCh38]
Chr16:31474021 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2574C>G (p.Ile858Met) single nucleotide variant Inborn genetic diseases [RCV004674326] Chr16:31466655 [GRCh38]
Chr16:31477976 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1745C>T (p.Ala582Val) single nucleotide variant ARMC5-related disorder [RCV004730692] Chr16:31464768 [GRCh38]
Chr16:31476089 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.398T>C (p.Leu133Pro) single nucleotide variant ARMC5-related disorder [RCV004753766] Chr16:31459922 [GRCh38]
Chr16:31471243 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1064T>A (p.Leu355Gln) single nucleotide variant not provided [RCV004781288] Chr16:31462611 [GRCh38]
Chr16:31473932 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1561C>T (p.Arg521Cys) single nucleotide variant ARMC5-related disorder [RCV004752537] Chr16:31464584 [GRCh38]
Chr16:31475905 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.481A>G (p.Ile161Val) single nucleotide variant not provided [RCV004766346] Chr16:31461927 [GRCh38]
Chr16:31473248 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1300G>T (p.Ala434Ser) single nucleotide variant ARMC5-related disorder [RCV004730724] Chr16:31462847 [GRCh38]
Chr16:31474168 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2374C>T (p.Leu792=) single nucleotide variant ARMC5-related disorder [RCV004754133] Chr16:31466455 [GRCh38]
Chr16:31477776 [GRCh37]
Chr16:16p11.2		 likely benign
NM_001105247.2(ARMC5):c.2408T>G (p.Val803Gly) single nucleotide variant not provided [RCV004775134] Chr16:31466489 [GRCh38]
Chr16:31477810 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1825C>T (p.Arg609Cys) single nucleotide variant ARMC5-related disorder [RCV004752588] Chr16:31464848 [GRCh38]
Chr16:31476169 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1864+40A>G single nucleotide variant ARMC5-related disorder [RCV004753875] Chr16:31464927 [GRCh38]
Chr16:31476248 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.1999A>T (p.Lys667Ter) single nucleotide variant ARMC5-related disorder [RCV004730581] Chr16:31466080 [GRCh38]
Chr16:31477401 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_001105247.2(ARMC5):c.2333T>C (p.Leu778Pro) single nucleotide variant not provided [RCV004725906] Chr16:31466414 [GRCh38]
Chr16:31477735 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_001105247.2(ARMC5):c.2244C>T (p.Pro748=) single nucleotide variant ARMC5-related disorder [RCV004753982] Chr16:31466325 [GRCh38]
Chr16:31477646 [GRCh37]
Chr16:16p11.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3516
Count of miRNA genes:870
Interacting mature miRNAs:1029
Transcripts:ENST00000268314, ENST00000408912, ENST00000412665, ENST00000457010, ENST00000538189, ENST00000563544, ENST00000564514, ENST00000564900, ENST00000570119
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2434 2788 2246 4953 1724 2350 4 623 1946 465 2268 7285 6454 52 3718 1 849 1736 1615 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY217348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON684457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000268314   ⟹   ENSP00000268314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,459,501 - 31,467,165 (+)Ensembl
Ensembl Acc Id: ENST00000408912   ⟹   ENSP00000386125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,458,080 - 31,467,105 (+)Ensembl
Ensembl Acc Id: ENST00000457010   ⟹   ENSP00000399561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,458,824 - 31,467,166 (+)Ensembl
Ensembl Acc Id: ENST00000538189   ⟹   ENSP00000443995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,459,087 - 31,467,164 (+)Ensembl
Ensembl Acc Id: ENST00000563544   ⟹   ENSP00000456877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,458,852 - 31,467,084 (+)Ensembl
Ensembl Acc Id: ENST00000564514   ⟹   ENSP00000454430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,459,994 - 31,462,323 (+)Ensembl
Ensembl Acc Id: ENST00000564900   ⟹   ENSP00000456571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,459,961 - 31,467,165 (+)Ensembl
Ensembl Acc Id: ENST00000570119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1631,465,333 - 31,466,151 (+)Ensembl
RefSeq Acc Id: NM_001105247   ⟹   NP_001098717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,459,501 - 31,467,165 (+)NCBI
GRCh371631,469,010 - 31,478,488 (+)NCBI
Build 361631,377,818 - 31,385,989 (+)NCBI Archive
Celera1628,829,903 - 28,838,074 (-)RGD
HuRef1629,029,797 - 29,038,691 (+)NCBI
CHM1_11632,788,949 - 32,797,127 (+)NCBI
T2T-CHM13v2.01631,846,889 - 31,854,553 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288767   ⟹   NP_001275696
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,458,304 - 31,467,165 (+)NCBI
HuRef1629,029,797 - 29,038,691 (+)NCBI
CHM1_11632,788,226 - 32,797,127 (+)NCBI
T2T-CHM13v2.01631,845,692 - 31,854,553 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001301820   ⟹   NP_001288749
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,458,854 - 31,467,167 (+)NCBI
CHM1_11632,788,807 - 32,797,127 (+)NCBI
T2T-CHM13v2.01631,846,242 - 31,854,555 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024742   ⟹   NP_079018
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,458,996 - 31,467,167 (+)NCBI
GRCh371631,469,010 - 31,478,488 (+)NCBI
Build 361631,377,818 - 31,385,989 (+)NCBI Archive
Celera1628,829,903 - 28,838,074 (-)RGD
HuRef1629,029,797 - 29,038,691 (+)NCBI
CHM1_11632,788,949 - 32,797,127 (+)NCBI
T2T-CHM13v2.01631,846,384 - 31,854,555 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006721091   ⟹   XP_006721154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,458,854 - 31,467,165 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434651   ⟹   XP_047290607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,458,996 - 31,467,165 (+)NCBI
RefSeq Acc Id: XM_054313948   ⟹   XP_054169923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,846,242 - 31,854,553 (+)NCBI
RefSeq Acc Id: XM_054313949   ⟹   XP_054169924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01631,846,384 - 31,854,553 (+)NCBI
RefSeq Acc Id: NP_079018   ⟸   NM_024742
- Peptide Label: isoform b precursor
- UniProtKB: Q96C12 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001098717   ⟸   NM_001105247
- Peptide Label: isoform a
- UniProtKB: Q9H7P8 (UniProtKB/Swiss-Prot),   Q86WM9 (UniProtKB/Swiss-Prot),   Q9H925 (UniProtKB/Swiss-Prot),   Q96C12 (UniProtKB/Swiss-Prot),   B4DH27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275696   ⟸   NM_001288767
- Peptide Label: isoform c
- UniProtKB: B4DIU9 (UniProtKB/TrEMBL),   J3KQ26 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006721154   ⟸   XM_006721091
- Peptide Label: isoform X1
- UniProtKB: B4DH27 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001288749   ⟸   NM_001301820
- Peptide Label: isoform d
- UniProtKB: B4DH27 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000268314   ⟸   ENST00000268314
Ensembl Acc Id: ENSP00000399561   ⟸   ENST00000457010
Ensembl Acc Id: ENSP00000443995   ⟸   ENST00000538189
Ensembl Acc Id: ENSP00000456877   ⟸   ENST00000563544
Ensembl Acc Id: ENSP00000454430   ⟸   ENST00000564514
Ensembl Acc Id: ENSP00000456571   ⟸   ENST00000564900
Ensembl Acc Id: ENSP00000386125   ⟸   ENST00000408912
RefSeq Acc Id: XP_047290607   ⟸   XM_047434651
- Peptide Label: isoform X2
- UniProtKB: B4DH27 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169923   ⟸   XM_054313948
- Peptide Label: isoform X1
- UniProtKB: B4DH27 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054169924   ⟸   XM_054313949
- Peptide Label: isoform X2
- UniProtKB: B4DH27 (UniProtKB/TrEMBL)
Protein Domains
BTB

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96C12-F1-model_v2 AlphaFold Q96C12 1-935 view protein structure

Promoters
RGD ID:6792808
Promoter ID:HG_KWN:23630
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001105247,   NM_024742,   UC002ECB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361631,377,151 - 31,378,402 (+)MPROMDB
RGD ID:7232099
Promoter ID:EPDNEW_H21795
Type:initiation region
Name:ARMC5_1
Description:armadillo repeat containing 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381631,458,829 - 31,458,889EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25781 AgrOrtholog
COSMIC ARMC5 COSMIC
Ensembl Genes ENSG00000140691 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268314 ENTREZGENE
  ENST00000268314.9 UniProtKB/Swiss-Prot
  ENST00000408912 ENTREZGENE
  ENST00000408912.7 UniProtKB/TrEMBL
  ENST00000457010 ENTREZGENE
  ENST00000457010.6 UniProtKB/Swiss-Prot
  ENST00000563544.5 UniProtKB/Swiss-Prot
  ENST00000564514.2 UniProtKB/TrEMBL
  ENST00000564900.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140691 GTEx
HGNC ID HGNC:25781 ENTREZGENE
Human Proteome Map ARMC5 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Armadillo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB/POZ_fold UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
KEGG Report hsa:79798 UniProtKB/Swiss-Prot
NCBI Gene 79798 ENTREZGENE
OMIM 615549 OMIM
PANTHER ARMADILLO REPEAT-CONTAINING PROTEIN 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARMC5 ARMADILLO REPEAT-CONTAINING -RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134926941 PharmGKB
PROSITE ARM_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ARM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54695 UniProtKB/TrEMBL
UniProt A0A1D5RMU3_HUMAN UniProtKB/TrEMBL
  ARMC5_HUMAN UniProtKB/Swiss-Prot
  B4DH27 ENTREZGENE, UniProtKB/TrEMBL
  B4DIU9 ENTREZGENE, UniProtKB/TrEMBL
  H3BS74_HUMAN UniProtKB/TrEMBL
  J3KQ26 ENTREZGENE, UniProtKB/TrEMBL
  Q86WM9 ENTREZGENE
  Q96C12 ENTREZGENE
  Q9H7P8 ENTREZGENE
  Q9H925 ENTREZGENE
UniProt Secondary Q86WM9 UniProtKB/Swiss-Prot
  Q9H7P8 UniProtKB/Swiss-Prot
  Q9H925 UniProtKB/Swiss-Prot