MTMR10 (myotubularin related protein 10) - Rat Genome Database

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Gene: MTMR10 (myotubularin related protein 10) Homo sapiens
Analyze
Symbol: MTMR10
Name: myotubularin related protein 10
RGD ID: 1606536
HGNC Page HGNC:25999
Description: Predicted to enable phosphatidylinositol-3-phosphate phosphatase activity. Predicted to be involved in phosphatidylinositol dephosphorylation. Located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ20313; inactive phosphatidylinositol 3-phosphatase 10; myotubularin-related protein 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381530,918,716 - 30,991,628 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1530,938,941 - 30,991,628 (-)EnsemblGRCh38hg38GRCh38
GRCh371531,231,144 - 31,283,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361529,018,436 - 29,071,099 (-)NCBINCBI36Build 36hg18NCBI36
Celera158,956,604 - 9,009,268 (-)NCBICelera
Cytogenetic Map15q13.3NCBI
HuRef158,408,046 - 8,460,722 (-)NCBIHuRef
CHM1_11531,221,968 - 31,274,650 (-)NCBICHM1_1
T2T-CHM13v2.01528,712,307 - 28,785,709 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Autistic behavior  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:12495846   PMID:15231748   PMID:15489336   PMID:16381901   PMID:16787938   PMID:21873635   PMID:23505323   PMID:24722188   PMID:25659891  
PMID:26496610   PMID:27432908   PMID:27880917   PMID:28065597   PMID:28675297   PMID:30639242   PMID:31871319   PMID:33961781   PMID:34079125   PMID:35271311   PMID:35914814   PMID:38117590  


Genomics

Comparative Map Data
MTMR10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381530,918,716 - 30,991,628 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1530,938,941 - 30,991,628 (-)EnsemblGRCh38hg38GRCh38
GRCh371531,231,144 - 31,283,831 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361529,018,436 - 29,071,099 (-)NCBINCBI36Build 36hg18NCBI36
Celera158,956,604 - 9,009,268 (-)NCBICelera
Cytogenetic Map15q13.3NCBI
HuRef158,408,046 - 8,460,722 (-)NCBIHuRef
CHM1_11531,221,968 - 31,274,650 (-)NCBICHM1_1
T2T-CHM13v2.01528,712,307 - 28,785,709 (-)NCBIT2T-CHM13v2.0
Mtmr10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39763,937,443 - 63,990,556 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl763,937,401 - 63,990,554 (+)EnsemblGRCm39 Ensembl
GRCm38764,287,670 - 64,340,806 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl764,287,653 - 64,340,806 (+)EnsemblGRCm38mm10GRCm38
MGSCv37771,432,556 - 71,485,692 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36764,205,670 - 64,219,224 (+)NCBIMGSCv36mm8
Celera761,733,340 - 61,786,143 (+)NCBICelera
Cytogenetic Map7CNCBI
cM Map734.63NCBI
Mtmr10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81127,271,139 - 127,322,621 (+)NCBIGRCr8
mRatBN7.21117,859,355 - 117,910,839 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1117,859,267 - 117,910,849 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1125,834,394 - 125,885,888 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01133,016,944 - 133,068,440 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01125,847,526 - 125,899,019 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01125,124,743 - 125,175,857 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1125,124,743 - 125,175,857 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01126,233,793 - 126,284,907 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41118,726,116 - 118,777,543 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11118,804,066 - 118,853,569 (+)NCBI
Celera1110,115,488 - 110,166,889 (+)NCBICelera
Cytogenetic Map1q22NCBI
Mtmr10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541629,758,048 - 29,805,029 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541629,758,048 - 29,803,701 (-)NCBIChiLan1.0ChiLan1.0
MTMR10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21619,746,955 - 19,799,959 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11524,471,410 - 24,524,386 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0159,431,261 - 9,484,107 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11528,459,436 - 28,521,997 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1528,469,039 - 28,521,997 (-)Ensemblpanpan1.1panPan2
MTMR10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1337,958,771 - 38,012,893 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl337,960,004 - 38,011,344 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha340,636,502 - 40,697,281 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0338,338,917 - 38,393,228 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl338,340,173 - 38,393,228 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1337,864,339 - 37,918,538 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0338,124,471 - 38,178,707 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0338,328,500 - 38,382,821 (+)NCBIUU_Cfam_GSD_1.0
Mtmr10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640145,418,904 - 145,470,802 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936483863,639 - 916,843 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936483863,667 - 915,579 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MTMR10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1143,867,839 - 143,917,878 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11143,867,746 - 143,917,881 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21159,813,053 - 159,863,324 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MTMR10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12651,670,086 - 51,723,401 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2651,670,132 - 51,724,226 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604889,102,681 - 89,156,022 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mtmr10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247681,881,210 - 1,923,685 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247681,880,930 - 1,923,685 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MTMR10
136 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017762.3(MTMR10):c.200A>G (p.Lys67Arg) single nucleotide variant Inborn genetic diseases [RCV002901084] Chr15:30976877 [GRCh38]
Chr15:31269080 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2884G>A (p.Val962Met) single nucleotide variant not provided [RCV000722480] Chr15:30930639 [GRCh38]
Chr15:31222842 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2036_2037del (p.Arg679fs) microsatellite Karyomegalic interstitial nephritis [RCV000030743] Chr15:30920634..30920635 [GRCh38]
Chr15:31212837..31212838 [GRCh37]
Chr15:15q13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000050899] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1 copy number loss Expressive language delay [RCV000050900]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050901]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050901]|See cases [RCV000050900] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1 copy number loss See cases [RCV000050511] Chr15:30438310..32217725 [GRCh38]
Chr15:30730513..32509926 [GRCh37]
Chr15:28517805..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1 copy number loss See cases [RCV000050564] Chr15:28314197..32343758 [GRCh38]
Chr15:28579796..32635959 [GRCh37]
Chr15:26232938..30423251 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000050599] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050608]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050608]|See cases [RCV000050608] Chr15:30662523..32607357 [GRCh38]
Chr15:30954726..32899558 [GRCh37]
Chr15:28742018..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1 copy number loss See cases [RCV000050609] Chr15:30662523..32607357 [GRCh38]
Chr15:30954726..32899558 [GRCh37]
Chr15:28742018..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000050441] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000050442] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000050375] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1 copy number loss Muscular hypotonia [RCV000050376]|See cases [RCV000050376] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1 copy number loss See cases [RCV000051585] Chr15:30361674..32630901 [GRCh38]
Chr15:30653877..32923102 [GRCh37]
Chr15:28441169..30710394 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3 copy number gain See cases [RCV000051332] Chr15:28918473..32606466 [GRCh38]
Chr15:29210676..32898667 [GRCh37]
Chr15:26997968..30685959 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3 copy number gain See cases [RCV000051334] Chr15:30109224..32149250 [GRCh38]
Chr15:30401427..32441451 [GRCh37]
Chr15:28188719..30228743 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361474-32607498)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051335]|See cases [RCV000051335] Chr15:30361474..32607498 [GRCh38]
Chr15:30653677..32899699 [GRCh37]
Chr15:28440969..30686991 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3 copy number gain See cases [RCV000051336] Chr15:30361674..32343758 [GRCh38]
Chr15:30653877..32635959 [GRCh37]
Chr15:28441169..30423251 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32146742)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051338]|See cases [RCV000051338] Chr15:30361674..32146742 [GRCh38]
Chr15:30653877..32438943 [GRCh37]
Chr15:28441169..30226235 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30438110-32607498)x3 copy number gain See cases [RCV000051339] Chr15:30438110..32607498 [GRCh38]
Chr15:30730313..32899699 [GRCh37]
Chr15:28517605..30686991 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3 copy number gain See cases [RCV000051351] Chr15:30640878..32222779 [GRCh38]
Chr15:30933081..32514980 [GRCh37]
Chr15:28720373..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3 copy number gain See cases [RCV000051112] Chr15:23319714..32607357 [GRCh38]
Chr15:22698522..32899558 [GRCh37]
Chr15:20249886..30686850 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1 copy number loss See cases [RCV000052412] Chr15:28918473..32149250 [GRCh38]
Chr15:29210676..32441451 [GRCh37]
Chr15:26997968..30228743 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052433]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052433]|See cases [RCV000052433] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32217725)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052435]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052435]|See cases [RCV000052435] Chr15:30361674..32217725 [GRCh38]
Chr15:30653877..32509926 [GRCh37]
Chr15:28441169..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527062-32217866)x1 copy number loss See cases [RCV000052436] Chr15:30527062..32217866 [GRCh38]
Chr15:30819265..32510067 [GRCh37]
Chr15:28606557..30297359 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1 copy number loss See cases [RCV000052452] Chr15:30527262..32343758 [GRCh38]
Chr15:30819465..32635959 [GRCh37]
Chr15:28606757..30423251 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1 copy number loss See cases [RCV000052453] Chr15:30592358..32121422 [GRCh38]
Chr15:30884561..32413623 [GRCh37]
Chr15:28671853..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1 copy number loss See cases [RCV000052455] Chr15:30614351..32606466 [GRCh38]
Chr15:30906554..32898667 [GRCh37]
Chr15:28693846..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1 copy number loss See cases [RCV000052458] Chr15:30634533..32121422 [GRCh38]
Chr15:30926736..32413623 [GRCh37]
Chr15:28714028..30200915 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662323-32217866)x1 copy number loss See cases [RCV000052461] Chr15:30662323..32217866 [GRCh38]
Chr15:30954526..32510067 [GRCh37]
Chr15:28741818..30297359 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32343758)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052463]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052463]|See cases [RCV000052463] Chr15:30662523..32343758 [GRCh38]
Chr15:30954726..32635959 [GRCh37]
Chr15:28742018..30423251 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1 copy number loss See cases [RCV000052464] Chr15:30750713..32217725 [GRCh38]
Chr15:31042916..32509926 [GRCh37]
Chr15:28830208..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1 copy number loss See cases [RCV000052465] Chr15:30822844..32149250 [GRCh38]
Chr15:31115047..32441451 [GRCh37]
Chr15:28902339..30228743 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1 copy number loss See cases [RCV000052481] Chr15:30822844..32606466 [GRCh38]
Chr15:31115047..32898667 [GRCh37]
Chr15:28902339..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1 copy number loss See cases [RCV000052426] Chr15:30109224..32606466 [GRCh38]
Chr15:30401427..32898667 [GRCh37]
Chr15:28188719..30685959 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31317476)x1 copy number loss See cases [RCV000052430] Chr15:30361674..31317476 [GRCh38]
Chr15:30653877..31609679 [GRCh37]
Chr15:28441169..29396971 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1 copy number loss See cases [RCV000052431] Chr15:30361674..32326182 [GRCh38]
Chr15:30653877..32618383 [GRCh37]
Chr15:28441169..30405675 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607498)x4 copy number gain See cases [RCV000053208] Chr15:23319714..32607498 [GRCh38]
Chr15:22698322..32899699 [GRCh37]
Chr15:20249686..30686991 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
NM_017762.2(MTMR10):c.121+6215C>G single nucleotide variant Lung cancer [RCV000099425] Chr15:30984562 [GRCh38]
Chr15:31276765 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2875C>T (p.Pro959Ser) single nucleotide variant not provided [RCV003223830] Chr15:30930630 [GRCh38]
Chr15:31222833 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1 copy number loss See cases [RCV000050900] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
15q13.3 deletion Chromosome 15q13.3 microdeletion syndrome [RCV000020064] Chr15:31137104..32445408 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1 copy number loss See cases [RCV000050376] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x4 copy number gain See cases [RCV000133595] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1 copy number loss See cases [RCV000052433] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3 copy number gain See cases [RCV000133742] Chr15:28961114..32343758 [GRCh38]
Chr15:29253317..32635959 [GRCh37]
Chr15:27040609..30423251 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3 copy number gain See cases [RCV000135330] Chr15:30797731..32150818 [GRCh38]
Chr15:31089934..32443019 [GRCh37]
Chr15:28877226..30230311 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3 copy number gain See cases [RCV000134822] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1 copy number loss See cases [RCV000134823] Chr15:30662521..32217731 [GRCh38]
Chr15:30954724..32509932 [GRCh37]
Chr15:28742016..30297224 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3 copy number gain See cases [RCV000135725] Chr15:30361674..32222779 [GRCh38]
Chr15:30653877..32514980 [GRCh37]
Chr15:28441169..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3 copy number gain See cases [RCV000135791] Chr15:30361674..31572487 [GRCh38]
Chr15:30653877..31864690 [GRCh37]
Chr15:28441169..29651982 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1 copy number loss See cases [RCV000135446] Chr15:30750713..32607357 [GRCh38]
Chr15:31042916..32899558 [GRCh37]
Chr15:28830208..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3 copy number gain See cases [RCV000135452] Chr15:30438310..32607357 [GRCh38]
Chr15:30730513..32899558 [GRCh37]
Chr15:28517805..30686850 [NCBI36]
Chr15:15q13.2-13.3		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3 copy number gain See cases [RCV000135974] Chr15:30361656..32150923 [GRCh38]
Chr15:30653859..32443124 [GRCh37]
Chr15:28441151..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1 copy number loss See cases [RCV000135953] Chr15:23319714..38089582 [GRCh38]
Chr15:22698522..38381783 [GRCh37]
Chr15:20249886..36169075 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3 copy number gain See cases [RCV000136965] Chr15:30291263..32217725 [GRCh38]
Chr15:30583466..32509926 [GRCh37]
Chr15:28370758..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1 copy number loss See cases [RCV000136622] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3 copy number gain See cases [RCV000137535] Chr15:30629714..32326182 [GRCh38]
Chr15:30921917..32618383 [GRCh37]
Chr15:28709209..30405675 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3 copy number gain See cases [RCV000137254] Chr15:30361674..32414682 [GRCh38]
Chr15:30653877..32706883 [GRCh37]
Chr15:28441169..30494175 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1 copy number loss See cases [RCV000137266] Chr15:30361674..32621998 [GRCh38]
Chr15:30653877..32914199 [GRCh37]
Chr15:28441169..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3 copy number gain See cases [RCV000137855] Chr15:30527262..32621998 [GRCh38]
Chr15:30819465..32914199 [GRCh37]
Chr15:28606757..30701491 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1 copy number loss See cases [RCV000138247] Chr15:30629714..32621998 [GRCh38]
Chr15:30921917..32914199 [GRCh37]
Chr15:28709209..30701491 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3 copy number gain See cases [RCV000138622] Chr15:23319714..32607357 [GRCh38]
Chr15:22765637..32899558 [GRCh37]
Chr15:20317001..30686850 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3 copy number gain See cases [RCV000138268] Chr15:28730988..32275124 [GRCh38]
Chr15:28976134..32567325 [GRCh37]
Chr15:26775175..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3 copy number gain See cases [RCV000138530] Chr15:23319714..38545325 [GRCh38]
Chr15:22765628..38837526 [GRCh37]
Chr15:20316992..36624818 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3 copy number gain See cases [RCV000138283] Chr15:28744504..32275124 [GRCh38]
Chr15:28989650..32567325 [GRCh37]
Chr15:26788691..30354617 [NCBI36]
Chr15:15q13.1-13.3		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1 copy number loss See cases [RCV000138308] Chr15:23319714..32384654 [GRCh38]
Chr15:22765628..32676855 [GRCh37]
Chr15:20316992..30464147 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1 copy number loss See cases [RCV000139417] Chr15:28744504..32222779 [GRCh38]
Chr15:28989650..32514980 [GRCh37]
Chr15:26788691..30302272 [NCBI36]
Chr15:15q13.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1 copy number loss See cases [RCV000139322] Chr15:30662521..32150923 [GRCh38]
Chr15:30954724..32443124 [GRCh37]
Chr15:28742016..30230416 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1 copy number loss See cases [RCV000139327] Chr15:30662521..32569411 [GRCh38]
Chr15:30954724..32861612 [GRCh37]
Chr15:28742016..30648904 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3 copy number gain See cases [RCV000139177] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1 copy number loss See cases [RCV000139178] Chr15:30629714..32247465 [GRCh38]
Chr15:30921917..32539666 [GRCh37]
Chr15:28709209..30326958 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-31175232)x3 copy number gain See cases [RCV000139101] Chr15:23319714..31175232 [GRCh38]
Chr15:22765637..31467435 [GRCh37]
Chr15:20317001..29254727 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3 copy number gain See cases [RCV000139610] Chr15:23319714..32217731 [GRCh38]
Chr15:22765637..32509932 [GRCh37]
Chr15:20317001..30297224 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-31045307)x1 copy number loss See cases [RCV000139471] Chr15:30629714..31045307 [GRCh38]
Chr15:30921917..31337510 [GRCh37]
Chr15:28709209..29124802 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1 copy number loss See cases [RCV000141147] Chr15:30797731..32170441 [GRCh38]
Chr15:31089934..32462642 [GRCh37]
Chr15:28877226..30249934 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3 copy number gain See cases [RCV000140689] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1 copy number loss See cases [RCV000140690] Chr15:30527262..32222779 [GRCh38]
Chr15:30819465..32514980 [GRCh37]
Chr15:28606757..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 15q13.3(chr15:30969632-31317417)x3 copy number gain See cases [RCV000140616] Chr15:30969632..31317417 [GRCh38]
Chr15:31261835..31609620 [GRCh37]
Chr15:29049127..29396912 [NCBI36]
Chr15:15q13.3		 benign
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1 copy number loss See cases [RCV000141477] Chr15:30217122..32217725 [GRCh38]
Chr15:30509325..32509926 [GRCh37]
Chr15:28296617..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1 copy number loss See cases [RCV000141482] Chr15:30217122..32607357 [GRCh38]
Chr15:30509325..32899558 [GRCh37]
Chr15:28296617..30686850 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3 copy number gain See cases [RCV000141654] Chr15:30094195..32151843 [GRCh38]
Chr15:30386398..32444044 [GRCh37]
Chr15:28173690..30231336 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1 copy number loss See cases [RCV000142300] Chr15:30781532..32154629 [GRCh38]
Chr15:31073735..32446830 [GRCh37]
Chr15:28861027..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3 copy number gain See cases [RCV000142144] Chr15:30621371..32151912 [GRCh38]
Chr15:30913574..32444113 [GRCh37]
Chr15:28700866..30231405 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3 copy number gain See cases [RCV000142184] Chr15:30621371..32147323 [GRCh38]
Chr15:30913574..32439524 [GRCh37]
Chr15:28700866..30226816 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1 copy number loss See cases [RCV000142808] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3 copy number gain See cases [RCV000142809] Chr15:30629714..32222779 [GRCh38]
Chr15:30921917..32514980 [GRCh37]
Chr15:28709209..30302272 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3 copy number gain See cases [RCV000142669] Chr15:30361674..32569425 [GRCh38]
Chr15:30653877..32861626 [GRCh37]
Chr15:28441169..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3 copy number gain See cases [RCV000142792] Chr15:30629714..32569425 [GRCh38]
Chr15:30921917..32861626 [GRCh37]
Chr15:28709209..30648918 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30646012-30952022)x1 copy number loss See cases [RCV000142632] Chr15:30646012..30952022 [GRCh38]
Chr15:30938215..31244225 [GRCh37]
Chr15:28725507..29031517 [NCBI36]
Chr15:15q13.2-13.3		 benign
GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1 copy number loss See cases [RCV000143205] Chr15:25033869..37204304 [GRCh38]
Chr15:25279016..37496505 [GRCh37]
Chr15:22830109..35283797 [NCBI36]
Chr15:15q11.2-14		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1 copy number loss See cases [RCV000143262] Chr15:30629714..32275124 [GRCh38]
Chr15:30921917..32567325 [GRCh37]
Chr15:28709209..30354617 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1 copy number loss See cases [RCV000143747] Chr15:30781465..32154629 [GRCh38]
Chr15:31073668..32446830 [GRCh37]
Chr15:28860960..30234122 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1 copy number loss See cases [RCV000148065] Chr15:30527262..32217725 [GRCh38]
Chr15:30819465..32509926 [GRCh37]
Chr15:28606757..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1 copy number loss See cases [RCV000148066] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3 copy number gain See cases [RCV000143499] Chr15:30781466..32154629 [GRCh38]
Chr15:31073669..32446830 [GRCh37]
Chr15:28860961..30234122 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3 copy number gain See cases [RCV000143653] Chr15:23328044..32151843 [GRCh38]
Chr15:23282829..32444044 [GRCh37]
Chr15:20834270..30231336 [NCBI36]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3 copy number gain See cases [RCV000148196] Chr15:30662523..32217725 [GRCh38]
Chr15:30954726..32509926 [GRCh37]
Chr15:28742018..30297218 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3 copy number gain See cases [RCV000148165] Chr15:30361674..32607357 [GRCh38]
Chr15:30653877..32899558 [GRCh37]
Chr15:28441169..30686850 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3 copy number gain See cases [RCV000148179] Chr15:30438310..32569425 [GRCh38]
Chr15:30730513..32861626 [GRCh37]
Chr15:28517805..30648918 [NCBI36]
Chr15:15q13.2-13.3		 uncertain significance
NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV000030744]|not provided [RCV001852612] Chr15:30925199 [GRCh38]
Chr15:31217402 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg) single nucleotide variant Karyomegalic interstitial nephritis [RCV000030748] Chr15:30930564 [GRCh38]
Chr15:31222767 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_014967.4(FAN1):c.2052+268C>T single nucleotide variant Lung cancer [RCV000099424] Chr15:30920921 [GRCh38]
Chr15:31213124 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917857)x3 copy number gain See cases [RCV000240120] Chr15:31115047..32917857 [GRCh37]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31140606-32438944)x1 copy number loss See cases [RCV000515560] Chr15:31140606..32438944 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.9:g.(?_30941572)_(32509926_?)del deletion Autism spectrum disorder [RCV000208726] Chr15:30941572..32509926 [GRCh37]
Chr15:15q13.2-13.3		 likely pathogenic
Single allele deletion Autism spectrum disorder [RCV000225421] Chr15:30940504..32620088 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.3015T>C (p.His1005=) single nucleotide variant Karyomegalic interstitial nephritis [RCV001701823]|not provided [RCV001594910]|not specified [RCV000241636] Chr15:30937217 [GRCh38]
Chr15:31229420 [GRCh37]
Chr15:15q13.3		 benign
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31115047-32418279)x1 copy number loss See cases [RCV000240564] Chr15:31115047..32418279 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:25583931-32418279)x3 copy number gain See cases [RCV000240575] Chr15:25583931..32418279 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240) copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV002280756] Chr15:31098690..32914240 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446830) copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV002280746] Chr15:31073668..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30696635-32783786)x3 copy number gain not provided [RCV002292910] Chr15:30696635..32783786 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1 copy number loss FETAL DEMISE [RCV002284317] Chr15:31073735..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x1 copy number loss See cases [RCV000599435] Chr15:30936285..32514341 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2774_2775del (p.Leu925fs) deletion Karyomegalic interstitial nephritis [RCV000030747] Chr15:30929384..30929385 [GRCh38]
Chr15:31221587..31221588 [GRCh37]
Chr15:15q13.3		 pathogenic|likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073668-32446829)x1 copy number loss See cases [RCV000449115] Chr15:31073668..32446829 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:28659910-32915593)x4 copy number gain See cases [RCV000449193] Chr15:28659910..32915593 [GRCh37]
Chr15:15q13.1-13.3		 likely pathogenic
GRCh37/hg19 15q11.2-14(chr15:24179003-37238599)x1 copy number loss See cases [RCV000449139] Chr15:24179003..37238599 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830)x1 copy number loss See cases [RCV000446829] Chr15:31073735..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32439299)x3 copy number gain See cases [RCV000446356] Chr15:30913573..32439299 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31115047-32418220)x1 copy number loss See cases [RCV000446217] Chr15:31115047..32418220 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:29214105-32418220)x1 copy number loss See cases [RCV000446254] Chr15:29214105..32418220 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31115047-31541543)x3 copy number gain See cases [RCV000447028] Chr15:31115047..31541543 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31113350-32444261)x3 copy number gain See cases [RCV000447206] Chr15:31113350..32444261 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31115047-32917801)x4 copy number gain See cases [RCV000445728] Chr15:31115047..32917801 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23282829-32446830)x1 copy number loss See cases [RCV000445807] Chr15:23282829..32446830 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:28659910-32446830)x4 copy number gain See cases [RCV000448111] Chr15:28659910..32446830 [GRCh37]
Chr15:15q13.1-13.3		 likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444044)x1 copy number loss See cases [RCV000448996] Chr15:30386398..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32444042)x3 copy number gain See cases [RCV000448945] Chr15:30913573..32444042 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444196)x3 copy number gain See cases [RCV000447821] Chr15:30386398..32444196 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.9:g.(?_30882901)_(32439053_?)dup duplication Schizophrenia [RCV000416733] Chr15:30882901..32439053 [GRCh37]
Chr15:28670193..30226345 [NCBI36]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073668-32439524)x3 copy number gain See cases [RCV000448317] Chr15:31073668..32439524 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x3 copy number gain See cases [RCV000448974] Chr15:31073735..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32439281)x3 copy number gain See cases [RCV000447954] Chr15:31073735..32439281 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31112919-32446830)x1 copy number loss See cases [RCV000448353] Chr15:31112919..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444113)x3 copy number gain See cases [RCV000448482] Chr15:30386398..32444113 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31112919-32444261)x1 copy number loss See cases [RCV000512123] Chr15:31112919..32444261 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_014967.5(FAN1):c.2616del (p.Asp873fs) deletion Karyomegalic interstitial nephritis [RCV000501496]|not provided [RCV001857188] Chr15:30929226 [GRCh38]
Chr15:31221429 [GRCh37]
Chr15:15q13.3		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32446830)x3 copy number gain See cases [RCV000510530] Chr15:30386398..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV000509445] Chr15:31108661..32446830 [GRCh37]
Chr15:15q13.2-13.3		 not provided
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32446830)x1 copy number loss See cases [RCV000510704] Chr15:31098690..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073669-32446830)x1 copy number loss See cases [RCV000510156] Chr15:31073669..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32444044)x3 copy number gain See cases [RCV000511905] Chr15:30913573..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913574-32446830)x3 copy number gain See cases [RCV000511384] Chr15:30913574..32446830 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444196)x1 copy number loss See cases [RCV000511582] Chr15:31073735..32444196 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31126934-32444043)x3 copy number gain See cases [RCV000511050] Chr15:31126934..32444043 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32019919)x3 copy number gain See cases [RCV000510738] Chr15:30913573..32019919 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073669-32439233)x3 copy number gain See cases [RCV000510993] Chr15:31073669..32439233 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NM_017762.3(MTMR10):c.26C>T (p.Pro9Leu) single nucleotide variant Inborn genetic diseases [RCV003271191] Chr15:30991481 [GRCh38]
Chr15:31283684 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558) copy number gain Motor delay [RCV000626504] Chr15:30366065..32899558 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2378G>T (p.Cys793Phe) single nucleotide variant Inborn genetic diseases [RCV003304388] Chr15:30925829 [GRCh38]
Chr15:31218032 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3 copy number gain See cases [RCV000512516] Chr15:28828167..34509383 [GRCh37]
Chr15:15q13.1-14		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x3 copy number gain See cases [RCV000512233] Chr15:31073735..32444044 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:28547475-32446830)x1 copy number loss See cases [RCV000512490] Chr15:28547475..32446830 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1 copy number loss See cases [RCV000512597] Chr15:31108661..32446830 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30386552-32444044)x3 copy number gain not provided [RCV000683666] Chr15:30386552..32444044 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32444044)x1 copy number loss not provided [RCV000683674] Chr15:31098690..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31112919-32446830)x1 copy number loss not provided [RCV000683675] Chr15:31112919..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1 copy number loss not provided [RCV000683673] Chr15:31073735..32914240 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32446830)x1 copy number loss not provided [RCV000683668] Chr15:30913573..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073668-32439300)x3 copy number gain not provided [RCV000683670] Chr15:31073668..32439300 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:29235104-32446830)x1 copy number loss not provided [RCV000683664] Chr15:29235104..32446830 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1 copy number loss not provided [RCV000683669] Chr15:30913573..32914239 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1 copy number loss not provided [RCV000683672] Chr15:31073735..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:29382884-32192467)x1 copy number loss not provided [RCV000683665] Chr15:29382884..32192467 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30769995-32701482)x1 copy number loss not provided [RCV000683667] Chr15:30769995..32701482 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-31454024)x3 copy number gain not provided [RCV000683671] Chr15:31073735..31454024 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:28968634-32444044)x3 copy number gain not provided [RCV000683661] Chr15:28968634..32444044 [GRCh37]
Chr15:15q13.1-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30927210-32722914)x3 copy number gain not provided [RCV000738720] Chr15:30927210..32722914 [GRCh37]
Chr15:15q13.2-13.3		 likely benign
NC_000015.10:g.(?_30325774)_(32194551_?)del deletion Schizophrenia [RCV000754161] Chr15:30325774..32194551 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
Single allele duplication Schizophrenia [RCV000754162] Chr15:30506022..32161746 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754164] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 likely pathogenic
NM_014967.5(FAN1):c.2120G>A (p.Trp707Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV000030741] Chr15:30922302 [GRCh38]
Chr15:31214505 [GRCh37]
Chr15:15q13.3		 pathogenic
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_30568981)_(32151126_?)del deletion Autism [RCV000754163] Chr15:30568981..32151126 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.(?_30568981)_(32318632_?)del deletion Autism [RCV000754165] Chr15:30568981..32318632 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30369914-32620127)x1 copy number loss not provided [RCV000751230] Chr15:30369914..32620127 [GRCh37]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30371774-32833659)x3 copy number gain not provided [RCV000751231] Chr15:30371774..32833659 [GRCh37]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30394266-32862087)x3 copy number gain not provided [RCV000751233] Chr15:30394266..32862087 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32431796)x3 copy number gain not provided [RCV000751238] Chr15:30936285..32431796 [GRCh37]
Chr15:15q13.2-13.3		 benign
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x1 copy number loss not provided [RCV000751239] Chr15:30936285..32514341 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30943512-32774558)x3 copy number gain not provided [RCV000751241] Chr15:30943512..32774558 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30949625-32475629)x1 copy number loss not provided [RCV000751242] Chr15:30949625..32475629 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30950529-32515849)x1 copy number loss not provided [RCV000751243] Chr15:30950529..32515849 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_014967.5(FAN1):c.2173-219C>T single nucleotide variant not provided [RCV001537336] Chr15:30924908 [GRCh38]
Chr15:31217111 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.1944-64G>C single nucleotide variant not provided [RCV001645987] Chr15:30920481 [GRCh38]
Chr15:31212684 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser) single nucleotide variant not provided [RCV001565470]|not specified [RCV001703122] Chr15:30929290 [GRCh38]
Chr15:31221493 [GRCh37]
Chr15:15q13.3		 benign|likely benign
NM_014967.5(FAN1):c.2489-46TG[21] microsatellite not provided [RCV001645345] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2271G>A (p.Pro757=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002488069]|not provided [RCV000980608] Chr15:30925225 [GRCh38]
Chr15:31217428 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.1944-207C>T single nucleotide variant not provided [RCV001547315] Chr15:30920338 [GRCh38]
Chr15:31212541 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2052+45C>T single nucleotide variant not provided [RCV001693320] Chr15:30920698 [GRCh38]
Chr15:31212901 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+275_2787+279del microsatellite not provided [RCV001681958] Chr15:30929667..30929671 [GRCh38]
Chr15:31221870..31221874 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2418C>T (p.Asp806=) single nucleotide variant FAN1-related condition [RCV003925941]|not provided [RCV000951317] Chr15:30925869 [GRCh38]
Chr15:31218072 [GRCh37]
Chr15:15q13.3		 benign|likely benign
NM_014967.5(FAN1):c.2071G>C (p.Glu691Gln) single nucleotide variant FAN1-related condition [RCV003940417]|Karyomegalic interstitial nephritis [RCV002507555]|not provided [RCV000880660] Chr15:30922253 [GRCh38]
Chr15:31214456 [GRCh37]
Chr15:15q13.3		 likely benign|conflicting interpretations of pathogenicity
NM_014967.5(FAN1):c.2917-7T>G single nucleotide variant not provided [RCV000881552] Chr15:30937112 [GRCh38]
Chr15:31229315 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2364A>G (p.Pro788=) single nucleotide variant not provided [RCV000924022] Chr15:30925815 [GRCh38]
Chr15:31218018 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23213406-32446830)x1 copy number loss not provided [RCV001006665] Chr15:23213406..32446830 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:29276878-32404084) copy number loss not provided [RCV000767727] Chr15:29276878..32404084 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30950529-32514341) copy number loss not provided [RCV000767728] Chr15:30950529..32514341 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30927362-32404084) copy number loss not provided [RCV000767842] Chr15:30927362..32404084 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30654617-32445252) copy number gain not provided [RCV000767755] Chr15:30654617..32445252 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2862T>C (p.Cys954=) single nucleotide variant FAN1-related condition [RCV003922998]|Karyomegalic interstitial nephritis [RCV002505312]|not provided [RCV000902675] Chr15:30930617 [GRCh38]
Chr15:31222820 [GRCh37]
Chr15:15q13.3		 benign|likely benign
NM_014967.5(FAN1):c.2433G>C (p.Leu811=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002495460]|not provided [RCV000903005] Chr15:30925884 [GRCh38]
Chr15:31218087 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2525A>G (p.Tyr842Cys) single nucleotide variant not provided [RCV000977911] Chr15:30928589 [GRCh38]
Chr15:31220792 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2427G>A (p.Thr809=) single nucleotide variant not provided [RCV000903792] Chr15:30925878 [GRCh38]
Chr15:31218081 [GRCh37]
Chr15:15q13.3		 benign|likely benign
GRCh37/hg19 15q13.2-13.3(chr15:30611102-32514341)x1 copy number loss See cases [RCV000790595] Chr15:30611102..32514341 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31196867-32404084) copy number loss not provided [RCV000767729] Chr15:31196867..32404084 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30927362-32929514) copy number gain not provided [RCV000767756] Chr15:30927362..32929514 [GRCh37]
Chr15:15q13.2-13.3		 likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31104220-32446830)x3 copy number gain not provided [RCV000845840] Chr15:31104220..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.10:g.(?_30614386)_(30952038_?)del deletion not provided [RCV000823253] Chr15:30614386..30952038 [GRCh38]
Chr15:30906589..31244241 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787382] Chr15:30405535..32914190 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14		 pathogenic
NM_014967.5(FAN1):c.2413G>A (p.Ala805Thr) single nucleotide variant FAN1-related condition [RCV003940752]|not provided [RCV000894046] Chr15:30925864 [GRCh38]
Chr15:31218067 [GRCh37]
Chr15:15q13.3		 benign|likely benign
GRCh37/hg19 15q13.1-13.3(chr15:28946433-32446830)x1 copy number loss not provided [RCV001006668] Chr15:28946433..32446830 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31122894-32428066)x3 copy number gain not provided [RCV000846312] Chr15:31122894..32428066 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31103537-32444261)x3 copy number gain not provided [RCV000846060] Chr15:31103537..32444261 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31088442-32428066)x3 copy number gain not provided [RCV000849403] Chr15:31088442..32428066 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31092982-32444261)x3 copy number gain not provided [RCV000847270] Chr15:31092982..32444261 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31108661-32446830)x1 copy number loss not provided [RCV001006671] Chr15:31108661..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
NM_017762.3(MTMR10):c.1135A>G (p.Arg379Gly) single nucleotide variant Inborn genetic diseases [RCV003275228] Chr15:30953563 [GRCh38]
Chr15:31245766 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:29268247-32446830)x1 copy number loss not provided [RCV001006669] Chr15:29268247..32446830 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
NC_000015.9:g.(?_30906349)_(32446187_?)del deletion not provided [RCV003105325] Chr15:30906349..32446187 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NC_000015.9:g.(?_31196075)_(31229463_31233768)dup duplication not specified [RCV003317696] Chr15:31196075..31229463 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NM_014967.5(FAN1):c.2787+265_2787+294dup duplication not provided [RCV001655175] Chr15:30929655..30929656 [GRCh38]
Chr15:31221858..31221859 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2173-218G>A single nucleotide variant not provided [RCV001555385] Chr15:30924909 [GRCh38]
Chr15:31217112 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2489-46TG[23] microsatellite not provided [RCV001560867] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2916+152C>G single nucleotide variant not provided [RCV001651368] Chr15:30930823 [GRCh38]
Chr15:31223026 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+47G>A single nucleotide variant not provided [RCV001598529] Chr15:30929444 [GRCh38]
Chr15:31221647 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.*3+210del deletion not provided [RCV001638411] Chr15:30937448 [GRCh38]
Chr15:31229651 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+295A>G single nucleotide variant not provided [RCV001562025] Chr15:30929692 [GRCh38]
Chr15:31221895 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2489-46TG[20] microsatellite not provided [RCV001620437] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+250_2787+253del microsatellite not provided [RCV001713897] Chr15:30929644..30929647 [GRCh38]
Chr15:31221847..31221850 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2053-13_2053-11del deletion not provided [RCV001653343] Chr15:30922220..30922222 [GRCh38]
Chr15:31214423..31214425 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2403C>T (p.Ala801=) single nucleotide variant not provided [RCV000907121] Chr15:30925854 [GRCh38]
Chr15:31218057 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.1944-4T>C single nucleotide variant FAN1-related condition [RCV003930704]|not provided [RCV000887938]|not specified [RCV001579941] Chr15:30920541 [GRCh38]
Chr15:31212744 [GRCh37]
Chr15:15q13.3		 benign|likely benign
NM_014967.5(FAN1):c.2721T>C (p.His907=) single nucleotide variant not provided [RCV000917304] Chr15:30929331 [GRCh38]
Chr15:31221534 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2118A>C (p.Arg706=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002502628]|not provided [RCV000897338] Chr15:30922300 [GRCh38]
Chr15:31214503 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2763C>T (p.Arg921=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002502701]|not provided [RCV000906423] Chr15:30929373 [GRCh38]
Chr15:31221576 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2805G>C (p.Leu935=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002502735]|not provided [RCV000910863] Chr15:30930560 [GRCh38]
Chr15:31222763 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2061C>G (p.Val687=) single nucleotide variant not provided [RCV000933473] Chr15:30922243 [GRCh38]
Chr15:31214446 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2835G>A (p.Arg945=) single nucleotide variant not provided [RCV000889264] Chr15:30930590 [GRCh38]
Chr15:31222793 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2697G>A (p.Arg899=) single nucleotide variant not provided [RCV000891499] Chr15:30929307 [GRCh38]
Chr15:31221510 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2583C>T (p.Asn861=) single nucleotide variant not provided [RCV000933834] Chr15:30928647 [GRCh38]
Chr15:31220850 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2058C>T (p.Ala686=) single nucleotide variant not provided [RCV000889986] Chr15:30922240 [GRCh38]
Chr15:31214443 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2337+244C>T single nucleotide variant not provided [RCV001688679] Chr15:30925535 [GRCh38]
Chr15:31217738 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2053-129C>T single nucleotide variant not provided [RCV001560661] Chr15:30922106 [GRCh38]
Chr15:31214309 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2489-46TG[22] microsatellite not provided [RCV001720449] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2172+92A>G single nucleotide variant not provided [RCV001597372] Chr15:30922446 [GRCh38]
Chr15:31214649 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2271G>C (p.Pro757=) single nucleotide variant FAN1-related condition [RCV003913332]|not provided [RCV001714224] Chr15:30925225 [GRCh38]
Chr15:31217428 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2917-280_2917-271del deletion not provided [RCV001694796] Chr15:30936839..30936848 [GRCh38]
Chr15:31229042..31229051 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+227T>C single nucleotide variant not provided [RCV001659112] Chr15:30929624 [GRCh38]
Chr15:31221827 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2787+163_2787+167del microsatellite not provided [RCV001720446] Chr15:30929555..30929559 [GRCh38]
Chr15:31221758..31221762 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2917-268_2917-261del deletion not provided [RCV001636162] Chr15:30936851..30936858 [GRCh38]
Chr15:31229054..31229061 [GRCh37]
Chr15:15q13.3		 benign
GRCh37/hg19 15q13.2-13.3(chr15:31103537-31553251)x3 copy number gain not provided [RCV001006670] Chr15:31103537..31553251 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:28962131-32620127)x1 copy number loss See cases [RCV001194540] Chr15:28962131..32620127 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30936285-32514341)x3 copy number gain See cases [RCV001007425] Chr15:30936285..32514341 [GRCh37]
Chr15:15q13.2-13.3		 likely pathogenic
NM_014967.5(FAN1):c.2053-53G>A single nucleotide variant not provided [RCV001671786] Chr15:30922182 [GRCh38]
Chr15:31214385 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2593-240C>G single nucleotide variant not provided [RCV001679903] Chr15:30928963 [GRCh38]
Chr15:31221166 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2338-163C>G single nucleotide variant not provided [RCV001647660] Chr15:30925626 [GRCh38]
Chr15:31217829 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+250_2787+258del deletion not provided [RCV001611214] Chr15:30929644..30929652 [GRCh38]
Chr15:31221847..31221855 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2488+22T>C single nucleotide variant Karyomegalic interstitial nephritis [RCV001703142]|not provided [RCV001647752] Chr15:30925961 [GRCh38]
Chr15:31218164 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+145C>A single nucleotide variant not provided [RCV001681302] Chr15:30929542 [GRCh38]
Chr15:31221745 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2489-46TG[18] microsatellite not provided [RCV001669673] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.*3+209_*3+210del deletion not provided [RCV001590133] Chr15:30937448..30937449 [GRCh38]
Chr15:31229651..31229652 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh37/hg19 15q13.2-13.3(chr15:30935243-32445105)x1 copy number loss not provided [RCV001537886] Chr15:30935243..32445105 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2086C>T (p.Gln696Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV001251484] Chr15:30922268 [GRCh38]
Chr15:31214471 [GRCh37]
Chr15:15q13.3		 likely pathogenic|uncertain significance
GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3 copy number gain not provided [RCV001258590] Chr15:28709714..34506805 [GRCh37]
Chr15:15q13.1-14		 likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30374368-32446830)x1 copy number loss not provided [RCV001258591] Chr15:30374368..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32051707)x3 copy number gain not provided [RCV001258592] Chr15:30386398..32051707 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32915089)x3 copy number gain not provided [RCV001258593] Chr15:30386398..32915089 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
Single allele deletion Chromosome 15q13.3 microdeletion syndrome [RCV002280355] Chr15:30626003..32111997 [GRCh38]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:28915863-32446830)x1 copy number loss not provided [RCV001258589] Chr15:28915863..32446830 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
NM_017762.3(MTMR10):c.1982_1984del (p.Tyr661del) deletion Karyomegalic interstitial nephritis [RCV001336220] Chr15:30941820..30941822 [GRCh38]
Chr15:31234023..31234025 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863) copy number gain Facial asymmetry [RCV001291969] Chr15:30943903..32510863 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863) copy number loss Global developmental delay [RCV001291980] Chr15:30943903..32510863 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2172+1G>C single nucleotide variant Interstitial nephritis, karyomegalic [RCV001336221] Chr15:30922355 [GRCh38]
Chr15:31214558 [GRCh37]
Chr15:15q13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943) copy number gain Intellectual disability [RCV001291970] Chr15:30652489..32438943 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2725C>T (p.Gln909Ter) single nucleotide variant Interstitial nephritis, karyomegalic [RCV001328819] Chr15:30929335 [GRCh38]
Chr15:31221538 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_014967.5(FAN1):c.2524T>C (p.Tyr842His) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374500] Chr15:30928588 [GRCh38]
Chr15:31220791 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2338-200C>G single nucleotide variant not provided [RCV001664988] Chr15:30925589 [GRCh38]
Chr15:31217792 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2172+276G>A single nucleotide variant not provided [RCV001666604] Chr15:30922630 [GRCh38]
Chr15:31214833 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2338-80A>G single nucleotide variant not provided [RCV001698831] Chr15:30925709 [GRCh38]
Chr15:31217912 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2788-161G>C single nucleotide variant not provided [RCV001527831] Chr15:30930382 [GRCh38]
Chr15:31222585 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2489-46TG[19] microsatellite not provided [RCV001611414] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.2787+207_2787+208del microsatellite not provided [RCV001536805] Chr15:30929602..30929603 [GRCh38]
Chr15:31221805..31221806 [GRCh37]
Chr15:15q13.3		 benign
NM_014967.5(FAN1):c.1944-288G>A single nucleotide variant not provided [RCV001589564] Chr15:30920257 [GRCh38]
Chr15:31212460 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.*3+60T>A single nucleotide variant not provided [RCV001669766] Chr15:30937319 [GRCh38]
Chr15:31229522 [GRCh37]
Chr15:15q13.3		 benign
NC_000015.9:g.(?_31196867)_(32404120_?)del deletion not provided [RCV001385088] Chr15:31196867..32404120 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30819465-32509926)x1 copy number loss See cases [RCV002246180] Chr15:30819465..32509926 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30386398-32444113)x3 copy number gain not provided [RCV001834164] Chr15:30386398..32444113 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1 copy number loss See cases [RCV002246182] Chr15:30783603..32914393 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32404614)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV001801180] Chr15:30897996..32404614 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2218A>G (p.Thr740Ala) single nucleotide variant not provided [RCV001751875] Chr15:30925172 [GRCh38]
Chr15:31217375 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30935361-32444840)x3 copy number gain not provided [RCV001795863] Chr15:30935361..32444840 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31088442-32446830) copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV002280736] Chr15:31088442..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913574-32019919)x1 copy number loss not provided [RCV001827773] Chr15:30913574..32019919 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NM_014967.5(FAN1):c.2787+87_2787+88del deletion not provided [RCV001786166] Chr15:30929484..30929485 [GRCh38]
Chr15:31221687..31221688 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2590C>T (p.Gln864Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV001849664] Chr15:30928654 [GRCh38]
Chr15:31220857 [GRCh37]
Chr15:15q13.3		 pathogenic|likely pathogenic
NM_014967.5(FAN1):c.2264del (p.Glu755fs) deletion Karyomegalic interstitial nephritis [RCV001783241] Chr15:30925218 [GRCh38]
Chr15:31217421 [GRCh37]
Chr15:15q13.3		 pathogenic|likely pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073669-32436521)x3 copy number gain not provided [RCV001836544] Chr15:31073669..32436521 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NC_000015.9:g.(?_31196867)_(32404120_?)dup duplication not provided [RCV001940131] Chr15:31196867..32404120 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1 copy number loss See cases [RCV002246183] Chr15:28780392..32784132 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
NM_014967.5(FAN1):c.2052+16C>G single nucleotide variant Karyomegalic interstitial nephritis [RCV002507857]|not provided [RCV002082425] Chr15:30920669 [GRCh38]
Chr15:31212872 [GRCh37]
Chr15:15q13.3		 benign|likely benign
NC_000015.9:g.(?_31196867)_(34112028_?)dup duplication Familial colorectal cancer [RCV003116655] Chr15:31196867..34112028 [GRCh37]
Chr15:15q13.2-14		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30899058-32446187)x1 copy number loss not provided [RCV002276016] Chr15:30899058..32446187 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30898046-32691186)x1 copy number loss not provided [RCV002292911] Chr15:30898046..32691186 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32444044)x1 copy number loss See cases [RCV002293402] Chr15:31098690..32444044 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2116C>G (p.Arg706Gly) single nucleotide variant not provided [RCV002681496] Chr15:30922298 [GRCh38]
Chr15:31214501 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073669-32915593)x3 copy number gain not provided [RCV002473636] Chr15:31073669..32915593 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30370018-32446830)x1 copy number loss not provided [RCV002472656] Chr15:30370018..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913574-32003451)x1 copy number loss not provided [RCV002474941] Chr15:30913574..32003451 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:28540415-32446830)x1 copy number loss not provided [RCV002474549] Chr15:28540415..32446830 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913574-32446830)x1 copy number loss not provided [RCV002474527] Chr15:30913574..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.1958T>C (p.Leu653Ser) single nucleotide variant Inborn genetic diseases [RCV002752174] Chr15:30920559 [GRCh38]
Chr15:31212762 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.547A>G (p.Lys183Glu) single nucleotide variant Inborn genetic diseases [RCV002774164] Chr15:30967938 [GRCh38]
Chr15:31260141 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2638C>T (p.Arg880Cys) single nucleotide variant Inborn genetic diseases [RCV002817177] Chr15:30929248 [GRCh38]
Chr15:31221451 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1645C>T (p.Arg549Cys) single nucleotide variant Inborn genetic diseases [RCV002990972] Chr15:30942976 [GRCh38]
Chr15:31235179 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.2098C>T (p.Arg700Cys) single nucleotide variant Inborn genetic diseases [RCV002974195] Chr15:30941706 [GRCh38]
Chr15:31233909 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.2007G>C (p.Gln669His) single nucleotide variant Inborn genetic diseases [RCV002688416] Chr15:30941797 [GRCh38]
Chr15:31234000 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1869G>C (p.Gln623His) single nucleotide variant Inborn genetic diseases [RCV002749872] Chr15:30941935 [GRCh38]
Chr15:31234138 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2470C>A (p.Arg824Ser) single nucleotide variant Inborn genetic diseases [RCV002948621]|not provided [RCV002948620] Chr15:30925921 [GRCh38]
Chr15:31218124 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1562G>A (p.Ser521Asn) single nucleotide variant Inborn genetic diseases [RCV002924901] Chr15:30943059 [GRCh38]
Chr15:31235262 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2566C>G (p.Pro856Ala) single nucleotide variant not provided [RCV002620961] Chr15:30928630 [GRCh38]
Chr15:31220833 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2714C>T (p.Thr905Met) single nucleotide variant not provided [RCV002619140] Chr15:30929324 [GRCh38]
Chr15:31221527 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1285A>T (p.Thr429Ser) single nucleotide variant Inborn genetic diseases [RCV002757697] Chr15:30948394 [GRCh38]
Chr15:31240597 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.1988G>T (p.Gly663Val) single nucleotide variant Inborn genetic diseases [RCV002950375] Chr15:30920589 [GRCh38]
Chr15:31212792 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2878G>A (p.Asp960Asn) single nucleotide variant not provided [RCV003081225] Chr15:30930633 [GRCh38]
Chr15:31222836 [GRCh37]
Chr15:15q13.3		 likely pathogenic
NM_014967.5(FAN1):c.1958dup (p.Leu653fs) duplication not provided [RCV003054958] Chr15:30920556..30920557 [GRCh38]
Chr15:31212759..31212760 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_017762.3(MTMR10):c.62C>T (p.Thr21Ile) single nucleotide variant Inborn genetic diseases [RCV002998019] Chr15:30990836 [GRCh38]
Chr15:31283039 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.53C>T (p.Pro18Leu) single nucleotide variant Inborn genetic diseases [RCV003004769] Chr15:30991454 [GRCh38]
Chr15:31283657 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2128C>T (p.Arg710Ter) single nucleotide variant not provided [RCV003041218] Chr15:30922310 [GRCh38]
Chr15:31214513 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_014967.5(FAN1):c.2887G>A (p.Val963Met) single nucleotide variant Inborn genetic diseases [RCV002916902] Chr15:30930642 [GRCh38]
Chr15:31222845 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2311G>A (p.Glu771Lys) single nucleotide variant not provided [RCV002595473] Chr15:30925265 [GRCh38]
Chr15:31217468 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2162G>A (p.Arg721His) single nucleotide variant Inborn genetic diseases [RCV002767474] Chr15:30922344 [GRCh38]
Chr15:31214547 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2615C>A (p.Thr872Lys) single nucleotide variant not provided [RCV003039940] Chr15:30929225 [GRCh38]
Chr15:31221428 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2827G>A (p.Val943Met) single nucleotide variant Inborn genetic diseases [RCV002788863] Chr15:30930582 [GRCh38]
Chr15:31222785 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2975C>T (p.Ala992Val) single nucleotide variant Inborn genetic diseases [RCV002812866] Chr15:30937177 [GRCh38]
Chr15:31229380 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.2105G>C (p.Gly702Ala) single nucleotide variant Inborn genetic diseases [RCV002935930] Chr15:30941699 [GRCh38]
Chr15:31233902 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1259T>C (p.Met420Thr) single nucleotide variant Inborn genetic diseases [RCV002808919] Chr15:30948420 [GRCh38]
Chr15:31240623 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2715G>A (p.Thr905=) single nucleotide variant not provided [RCV002647501] Chr15:30929325 [GRCh38]
Chr15:31221528 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2587T>A (p.Cys863Ser) single nucleotide variant Inborn genetic diseases [RCV002960275] Chr15:30928651 [GRCh38]
Chr15:31220854 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.2186C>T (p.Ser729Leu) single nucleotide variant Inborn genetic diseases [RCV002649088] Chr15:30941618 [GRCh38]
Chr15:31233821 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2260C>T (p.Arg754Ter) single nucleotide variant not provided [RCV002630712] Chr15:30925214 [GRCh38]
Chr15:31217417 [GRCh37]
Chr15:15q13.3		 pathogenic
NM_014967.5(FAN1):c.2175T>C (p.Thr725=) single nucleotide variant not provided [RCV002676040] Chr15:30925129 [GRCh38]
Chr15:31217332 [GRCh37]
Chr15:15q13.3		 likely benign
NM_017762.3(MTMR10):c.674C>T (p.Ser225Leu) single nucleotide variant Inborn genetic diseases [RCV002965859] Chr15:30960965 [GRCh38]
Chr15:31253168 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2593G>A (p.Ala865Thr) single nucleotide variant Inborn genetic diseases [RCV002878475] Chr15:30929203 [GRCh38]
Chr15:31221406 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.408T>G (p.Ile136Met) single nucleotide variant Inborn genetic diseases [RCV002937042] Chr15:30974380 [GRCh38]
Chr15:31266583 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2381A>G (p.Lys794Arg) single nucleotide variant not provided [RCV002943231] Chr15:30925832 [GRCh38]
Chr15:31218035 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2143T>C (p.Leu715=) single nucleotide variant not provided [RCV002942298] Chr15:30922325 [GRCh38]
Chr15:31214528 [GRCh37]
Chr15:15q13.3		 benign
NM_017762.3(MTMR10):c.321A>C (p.Gln107His) single nucleotide variant Inborn genetic diseases [RCV002678534] Chr15:30974941 [GRCh38]
Chr15:31267144 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2070T>G (p.Leu690=) single nucleotide variant not provided [RCV002610720] Chr15:30922252 [GRCh38]
Chr15:31214455 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2488+6T>A single nucleotide variant not provided [RCV002587285] Chr15:30925945 [GRCh38]
Chr15:31218148 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2359T>C (p.Cys787Arg) single nucleotide variant Inborn genetic diseases [RCV002655903] Chr15:30925810 [GRCh38]
Chr15:31218013 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2201C>T (p.Ala734Val) single nucleotide variant not provided [RCV002588120] Chr15:30925155 [GRCh38]
Chr15:31217358 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1171A>G (p.Met391Val) single nucleotide variant Inborn genetic diseases [RCV003179678] Chr15:30952004 [GRCh38]
Chr15:31244207 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2369G>A (p.Arg790His) single nucleotide variant Inborn genetic diseases [RCV003196683] Chr15:30925820 [GRCh38]
Chr15:31218023 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003159298] Chr15:30921917..32514980 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743) copy number gain Anomalous pulmonary venous return [RCV003223577] Chr15:30866083..32146743 [GRCh38]
Chr15:15q13.2-13.3		 uncertain significance
NM_017762.3(MTMR10):c.2090G>A (p.Arg697Gln) single nucleotide variant Inborn genetic diseases [RCV003173027] Chr15:30941714 [GRCh38]
Chr15:31233917 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2171C>T (p.Pro724Leu) single nucleotide variant Karyomegalic interstitial nephritis [RCV003147167] Chr15:30922353 [GRCh38]
Chr15:31214556 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV003147168] Chr15:30930609 [GRCh38]
Chr15:31222812 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1921C>G (p.Leu641Val) single nucleotide variant Inborn genetic diseases [RCV003183760] Chr15:30941883 [GRCh38]
Chr15:31234086 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.2082G>C (p.Arg694Ser) single nucleotide variant Inborn genetic diseases [RCV003193556] Chr15:30941722 [GRCh38]
Chr15:31233925 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32446830) copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003319584] Chr15:31073735..32446830 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2418C>G (p.Asp806Glu) single nucleotide variant not provided [RCV003319693] Chr15:30925869 [GRCh38]
Chr15:31218072 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30805785-32686484)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003329504] Chr15:30805785..32686484 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30854238-32892694)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003329539] Chr15:30854238..32892694 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30897996-32442006)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003329528] Chr15:30897996..32442006 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30850097-32693726)x1 copy number loss See cases [RCV003329516] Chr15:30850097..32693726 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30918974-32442006)x1 copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003329507] Chr15:30918974..32442006 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_017762.3(MTMR10):c.1486C>T (p.Arg496Trp) single nucleotide variant Inborn genetic diseases [RCV003340340] Chr15:30947192 [GRCh38]
Chr15:31239395 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30850147-32404100)x1 copy number loss not provided [RCV003334185] Chr15:30850147..32404100 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
NM_017762.3(MTMR10):c.133G>A (p.Val45Ile) single nucleotide variant Inborn genetic diseases [RCV003342095] Chr15:30976944 [GRCh38]
Chr15:31269147 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2514C>G (p.Phe838Leu) single nucleotide variant Inborn genetic diseases [RCV003379701] Chr15:30928578 [GRCh38]
Chr15:31220781 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.1866C>G (p.Ser622Arg) single nucleotide variant Inborn genetic diseases [RCV003362015] Chr15:30941938 [GRCh38]
Chr15:31234141 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2632A>G (p.Ser878Gly) single nucleotide variant Inborn genetic diseases [RCV003350127] Chr15:30929242 [GRCh38]
Chr15:31221445 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.1-13.3(chr15:29488634-31342785)x1 copy number loss not provided [RCV003456905] Chr15:29488634..31342785 [GRCh37]
Chr15:15q13.1-13.3		 pathogenic
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 copy number gain not provided [RCV003485057] Chr15:22770422..32915593 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
NM_014967.5(FAN1):c.2245C>G (p.Arg749Gly) single nucleotide variant FAN1-related condition [RCV003403013] Chr15:30925199 [GRCh38]
Chr15:31217402 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.3(chr15:31223642-32446830)x1 copy number loss not provided [RCV003483222] Chr15:31223642..32446830 [GRCh37]
Chr15:15q13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30913574-32444196)x3 copy number gain not provided [RCV003485060] Chr15:30913574..32444196 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NM_014967.5(FAN1):c.2219C>T (p.Thr740Met) single nucleotide variant FAN1-related condition [RCV003402714] Chr15:30925173 [GRCh38]
Chr15:31217376 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2906G>T (p.Arg969Leu) single nucleotide variant FAN1-related condition [RCV003427963] Chr15:30930661 [GRCh38]
Chr15:31222864 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_017762.3(MTMR10):c.2055G>T (p.Leu685=) single nucleotide variant not provided [RCV003393746] Chr15:30941749 [GRCh38]
Chr15:31233952 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh37/hg19 15q13.2-13.3(chr15:30653877-32914199)x3 copy number gain See cases [RCV003388822] Chr15:30653877..32914199 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NM_014967.5(FAN1):c.2155T>G (p.Leu719Val) single nucleotide variant FAN1-related condition [RCV003418811] Chr15:30922337 [GRCh38]
Chr15:31214540 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30730511-32914199)x3 copy number gain See cases [RCV003493284] Chr15:30730511..32914199 [GRCh37]
Chr15:15q13.2-13.3		 uncertain significance
NM_014967.5(FAN1):c.2172+17del deletion not provided [RCV003828317] Chr15:30922371 [GRCh38]
Chr15:31214574 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2412C>T (p.Ala804=) single nucleotide variant not provided [RCV003724197] Chr15:30925863 [GRCh38]
Chr15:31218066 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2577C>T (p.Phe859=) single nucleotide variant FAN1-related condition [RCV003981031]|not provided [RCV003671888] Chr15:30928641 [GRCh38]
Chr15:31220844 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2256C>G (p.Arg752=) single nucleotide variant not provided [RCV003666039] Chr15:30925210 [GRCh38]
Chr15:31217413 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2787+17A>G single nucleotide variant not provided [RCV003816739] Chr15:30929414 [GRCh38]
Chr15:31221617 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2761C>T (p.Arg921Cys) single nucleotide variant FAN1-related condition [RCV003949012]|not provided [RCV003736056] Chr15:30929371 [GRCh38]
Chr15:31221574 [GRCh37]
Chr15:15q13.3		 benign|likely benign
NM_014967.5(FAN1):c.2521C>T (p.Leu841=) single nucleotide variant not provided [RCV003563416] Chr15:30928585 [GRCh38]
Chr15:31220788 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2937C>T (p.Pro979=) single nucleotide variant not provided [RCV003729958] Chr15:30937139 [GRCh38]
Chr15:31229342 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2385T>A (p.Ser795=) single nucleotide variant not provided [RCV003846422] Chr15:30925836 [GRCh38]
Chr15:31218039 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2192A>G (p.Glu731Gly) single nucleotide variant not provided [RCV003871044] Chr15:30925146 [GRCh38]
Chr15:31217349 [GRCh37]
Chr15:15q13.3		 uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30913573-32914239)x1 copy number loss not specified [RCV003987087] Chr15:30913573..32914239 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1 copy number loss not specified [RCV003987110] Chr15:22836883..39108014 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3 copy number gain not specified [RCV003987077] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:23748021-32444261)x1 copy number loss not specified [RCV003987120] Chr15:23748021..32444261 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_014967.5(FAN1):c.2338-13G>C single nucleotide variant not provided [RCV003819187] Chr15:30925776 [GRCh38]
Chr15:31217979 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2426C>T (p.Thr809Met) single nucleotide variant not provided [RCV003728348] Chr15:30925877 [GRCh38]
Chr15:31218080 [GRCh37]
Chr15:15q13.3		 uncertain significance
NM_014967.5(FAN1):c.2274C>T (p.Ser758=) single nucleotide variant FAN1-related condition [RCV003944018] Chr15:30925228 [GRCh38]
Chr15:31217431 [GRCh37]
Chr15:15q13.3		 likely benign
NM_014967.5(FAN1):c.2593-4A>G single nucleotide variant FAN1-related condition [RCV003894292] Chr15:30929199 [GRCh38]
Chr15:31221402 [GRCh37]
Chr15:15q13.3		 likely benign
GRCh37/hg19 15q13.2-13.3(chr15:30844281-32404100)x1 copy number loss not provided [RCV003885465] Chr15:30844281..32404100 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30896376-32465219)x1 copy number loss not provided [RCV003885466] Chr15:30896376..32465219 [GRCh37]
Chr15:15q13.2-13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7326
Count of miRNA genes:1247
Interacting mature miRNAs:1590
Transcripts:ENST00000314404, ENST00000425768, ENST00000435680, ENST00000563714, ENST00000564787, ENST00000565728, ENST00000566338, ENST00000566981, ENST00000567567, ENST00000568547, ENST00000568604, ENST00000568611
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D15S165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,260,619 - 31,260,813UniSTSGRCh37
GRCh371531,260,623 - 31,260,818UniSTSGRCh37
Build 361529,047,915 - 29,048,110RGDNCBI36
Celera158,986,083 - 8,986,277UniSTS
Celera158,986,087 - 8,986,282RGD
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q11.2-q13.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map15q11-q13UniSTS
HuRef158,437,542 - 8,437,739UniSTS
HuRef158,437,538 - 8,437,734UniSTS
Marshfield Genetic Map1520.24UniSTS
Marshfield Genetic Map1520.24RGD
Genethon Genetic Map1520.2UniSTS
TNG Radiation Hybrid Map154334.0UniSTS
deCODE Assembly Map1522.64UniSTS
Stanford-G3 RH Map15395.0UniSTS
NCBI RH Map1546.8UniSTS
GeneMap99-G3 RH Map15395.0UniSTS
RH78415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,261,298 - 31,261,454UniSTSGRCh37
Build 361529,048,590 - 29,048,746RGDNCBI36
Celera158,986,762 - 8,986,918RGD
Cytogenetic Map15q13.3UniSTS
HuRef158,438,219 - 8,438,375UniSTS
GeneMap99-GB4 RH Map1567.18UniSTS
RH64897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,235,097 - 31,235,216UniSTSGRCh37
Build 361529,022,389 - 29,022,508RGDNCBI36
Celera158,960,557 - 8,960,676RGD
Cytogenetic Map15q13.2-q13.3UniSTS
Cytogenetic Map15q13.3UniSTS
HuRef158,411,995 - 8,412,114UniSTS
GeneMap99-GB4 RH Map1562.48UniSTS
RH80621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,231,213 - 31,231,343UniSTSGRCh37
Build 361529,018,505 - 29,018,635RGDNCBI36
Celera158,956,673 - 8,956,803RGD
Cytogenetic Map15q13.2-q13.3UniSTS
Cytogenetic Map15q13.3UniSTS
HuRef158,408,115 - 8,408,245UniSTS
GeneMap99-GB4 RH Map1565.3UniSTS
SHGC-58554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,233,921 - 31,234,071UniSTSGRCh37
Build 361529,021,213 - 29,021,363RGDNCBI36
Celera158,959,381 - 8,959,531RGD
Cytogenetic Map15q13.2-q13.3UniSTS
Cytogenetic Map15q13.3UniSTS
HuRef158,410,819 - 8,410,969UniSTS
TNG Radiation Hybrid Map154321.0UniSTS
G42953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,231,154 - 31,231,303UniSTSGRCh37
Build 361529,018,446 - 29,018,595RGDNCBI36
Celera158,956,614 - 8,956,763RGD
Cytogenetic Map15q13.2-q13.3UniSTS
Cytogenetic Map15q13.3UniSTS
HuRef158,408,056 - 8,408,205UniSTS
G60084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,231,167 - 31,231,303UniSTSGRCh37
Build 361529,018,459 - 29,018,595RGDNCBI36
Celera158,956,627 - 8,956,763RGD
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map15q13.2-q13.3UniSTS
HuRef158,408,069 - 8,408,205UniSTS
TNG Radiation Hybrid Map154312.0UniSTS
TNG Radiation Hybrid Map154315.0UniSTS
NIB2035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,231,219 - 31,231,373UniSTSGRCh37
Build 361529,018,511 - 29,018,665RGDNCBI36
Celera158,956,679 - 8,956,833RGD
Cytogenetic Map15q13.2-q13.3UniSTS
Cytogenetic Map15q13.3UniSTS
HuRef158,408,121 - 8,408,275UniSTS
GeneMap99-GB4 RH Map1570.55UniSTS
Whitehead-RH Map1547.1UniSTS
WI-19599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,234,974 - 31,235,234UniSTSGRCh37
Build 361529,022,266 - 29,022,526RGDNCBI36
Celera158,960,434 - 8,960,694RGD
Cytogenetic Map15q13.2-q13.3UniSTS
Cytogenetic Map15q13.3UniSTS
HuRef158,411,872 - 8,412,132UniSTS
GeneMap99-GB4 RH Map1559.11UniSTS
Whitehead-RH Map1545.1UniSTS
D15S165  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q13.3UniSTS
TNG Radiation Hybrid Map154334.0UniSTS
Stanford-G3 RH Map15395.0UniSTS
NCBI RH Map1546.8UniSTS
GeneMap99-G3 RH Map15395.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2147 1995 1370 409 1161 248 4134 1805 3358 335 1309 1397 165 1199 2761 4
Low 292 995 356 215 790 217 223 392 376 84 151 216 10 1 5 27 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_017762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054378323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA461184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL598227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000435680   ⟹   ENSP00000402537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,938,941 - 30,991,628 (-)Ensembl
RefSeq Acc Id: ENST00000563714   ⟹   ENSP00000457390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,946,210 - 30,991,415 (-)Ensembl
RefSeq Acc Id: ENST00000564787   ⟹   ENSP00000455903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,960,881 - 30,991,607 (-)Ensembl
RefSeq Acc Id: ENST00000565728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,947,054 - 30,991,596 (-)Ensembl
RefSeq Acc Id: ENST00000566338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,939,525 - 30,950,336 (-)Ensembl
RefSeq Acc Id: ENST00000566981   ⟹   ENSP00000457873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,946,404 - 30,960,933 (-)Ensembl
RefSeq Acc Id: ENST00000567567   ⟹   ENSP00000457781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,941,209 - 30,991,578 (-)Ensembl
RefSeq Acc Id: ENST00000568547   ⟹   ENSP00000455869
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,941,207 - 30,974,389 (-)Ensembl
RefSeq Acc Id: ENST00000568604   ⟹   ENSP00000457903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,938,948 - 30,991,603 (-)Ensembl
RefSeq Acc Id: ENST00000568611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,959,046 - 30,968,211 (-)Ensembl
RefSeq Acc Id: NM_017762   ⟹   NP_060232
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,938,941 - 30,991,628 (-)NCBI
GRCh371531,220,854 - 31,283,807 (-)NCBI
Build 361529,018,436 - 29,071,099 (-)NCBI Archive
Celera158,956,604 - 9,009,268 (-)RGD
HuRef158,408,046 - 8,460,722 (-)RGD
CHM1_11531,221,968 - 31,274,650 (-)NCBI
T2T-CHM13v2.01528,733,019 - 28,785,709 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521737   ⟹   XP_011520039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,918,716 - 30,991,628 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521738   ⟹   XP_011520040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,943,376 - 30,991,628 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432770   ⟹   XP_047288726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,938,941 - 30,991,628 (-)NCBI
RefSeq Acc Id: XM_047432771   ⟹   XP_047288727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,926,555 - 30,991,628 (-)NCBI
RefSeq Acc Id: XM_047432772   ⟹   XP_047288728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,938,941 - 30,966,034 (-)NCBI
RefSeq Acc Id: XM_047432773   ⟹   XP_047288729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,948,303 - 30,991,628 (-)NCBI
RefSeq Acc Id: XM_054378318   ⟹   XP_054234293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,733,019 - 28,785,709 (-)NCBI
RefSeq Acc Id: XM_054378319   ⟹   XP_054234294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,722,489 - 28,785,709 (-)NCBI
RefSeq Acc Id: XM_054378320   ⟹   XP_054234295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,712,307 - 28,785,709 (-)NCBI
RefSeq Acc Id: XM_054378321   ⟹   XP_054234296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,737,447 - 28,785,709 (-)NCBI
RefSeq Acc Id: XM_054378322   ⟹   XP_054234297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,733,019 - 28,762,086 (-)NCBI
RefSeq Acc Id: XM_054378323   ⟹   XP_054234298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,742,381 - 28,785,709 (-)NCBI
Protein Sequences
Protein RefSeqs NP_060232 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520039 (Get FASTA)   NCBI Sequence Viewer  
  XP_011520040 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288727 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288728 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288729 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186001 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186002 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186003 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186004 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186005 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186006 (Get FASTA)   NCBI Sequence Viewer  
  XP_054186007 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187773 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187774 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187775 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187776 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187777 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187778 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187779 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234293 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234294 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234295 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234297 (Get FASTA)   NCBI Sequence Viewer  
  XP_054234298 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI21172 (Get FASTA)   NCBI Sequence Viewer  
  AAI21173 (Get FASTA)   NCBI Sequence Viewer  
  AHW56522 (Get FASTA)   NCBI Sequence Viewer  
  AHW56523 (Get FASTA)   NCBI Sequence Viewer  
  AHW56627 (Get FASTA)   NCBI Sequence Viewer  
  AHW56651 (Get FASTA)   NCBI Sequence Viewer  
  AHW56669 (Get FASTA)   NCBI Sequence Viewer  
  AHW56710 (Get FASTA)   NCBI Sequence Viewer  
  AHW56714 (Get FASTA)   NCBI Sequence Viewer  
  AHW56722 (Get FASTA)   NCBI Sequence Viewer  
  BAA91083 (Get FASTA)   NCBI Sequence Viewer  
  BAG59478 (Get FASTA)   NCBI Sequence Viewer  
  BAG64669 (Get FASTA)   NCBI Sequence Viewer  
  EAW61258 (Get FASTA)   NCBI Sequence Viewer  
  EAW61259 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000402537
  ENSP00000402537.1
  ENSP00000455869.1
  ENSP00000455903.1
  ENSP00000457390
  ENSP00000457390.1
  ENSP00000457781.1
  ENSP00000457873.1
  ENSP00000457903.1
  ENSP00000484437.1
  ENSP00000486566.1
GenBank Protein Q9NXD2 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060232   ⟸   NM_017762
- UniProtKB: Q6P4Q6 (UniProtKB/Swiss-Prot),   Q9NXD2 (UniProtKB/Swiss-Prot),   X5D963 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520039   ⟸   XM_011521737
- Peptide Label: isoform X3
- UniProtKB: X5D300 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520040   ⟸   XM_011521738
- Peptide Label: isoform X4
- UniProtKB: X5D300 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000457390   ⟸   ENST00000563714
RefSeq Acc Id: ENSP00000455903   ⟸   ENST00000564787
RefSeq Acc Id: ENSP00000457873   ⟸   ENST00000566981
RefSeq Acc Id: ENSP00000457781   ⟸   ENST00000567567
RefSeq Acc Id: ENSP00000402537   ⟸   ENST00000435680
RefSeq Acc Id: ENSP00000457903   ⟸   ENST00000568604
RefSeq Acc Id: ENSP00000455869   ⟸   ENST00000568547
RefSeq Acc Id: XP_047288727   ⟸   XM_047432771
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047288726   ⟸   XM_047432770
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047288728   ⟸   XM_047432772
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047288729   ⟸   XM_047432773
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054234295   ⟸   XM_054378320
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054234294   ⟸   XM_054378319
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054234293   ⟸   XM_054378318
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234297   ⟸   XM_054378322
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054234296   ⟸   XM_054378321
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054234298   ⟸   XM_054378323
- Peptide Label: isoform X5
Protein Domains
Myotubularin phosphatase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NXD2-F1-model_v2 AlphaFold Q9NXD2 1-777 view protein structure

Promoters
RGD ID:6792467
Promoter ID:HG_KWN:20870
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:ENST00000314404,   ENST00000340566,   NM_017762,   UC001ZFI.1,   UC001ZFJ.2,   UC001ZFK.1,   UC010AZX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361529,071,009 - 29,071,509 (-)MPROMDB
RGD ID:7228917
Promoter ID:EPDNEW_H20204
Type:initiation region
Name:MTMR10_1
Description:myotubularin related protein 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,991,628 - 30,991,688EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25999 AgrOrtholog
COSMIC MTMR10 COSMIC
Ensembl Genes ENSG00000166912 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277086 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000435680 ENTREZGENE
  ENST00000435680.6 UniProtKB/Swiss-Prot
  ENST00000563714 ENTREZGENE
  ENST00000563714.5 UniProtKB/Swiss-Prot
  ENST00000564787.1 UniProtKB/TrEMBL
  ENST00000566981.1 UniProtKB/TrEMBL
  ENST00000567567.5 UniProtKB/TrEMBL
  ENST00000568547.5 UniProtKB/TrEMBL
  ENST00000568604.5 UniProtKB/Swiss-Prot
  ENST00000621195.3 UniProtKB/Swiss-Prot
  ENST00000628420.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166912 GTEx
  ENSG00000277086 GTEx
HGNC ID HGNC:25999 ENTREZGENE
Human Proteome Map MTMR10 Human Proteome Map
InterPro MTMR10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTMR10_PH-GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MTMR12-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin-like_Pase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotubularin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54893 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 54893 ENTREZGENE
PANTHER PTHR10807 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10807:SF39 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam 3-PAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Myotub-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA128394676 PharmGKB
PROSITE PPASE_MYOTUBULARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H3BQP4_HUMAN UniProtKB/TrEMBL
  H3BQR5_HUMAN UniProtKB/TrEMBL
  H3BUS9_HUMAN UniProtKB/TrEMBL
  H3BUZ0_HUMAN UniProtKB/TrEMBL
  MTMRA_HUMAN UniProtKB/Swiss-Prot
  Q0IJ45_HUMAN UniProtKB/TrEMBL
  Q0IJ46_HUMAN UniProtKB/TrEMBL
  Q6P4Q6 ENTREZGENE
  Q9NXD2 ENTREZGENE
  X5D300 ENTREZGENE, UniProtKB/TrEMBL
  X5D334_HUMAN UniProtKB/TrEMBL
  X5D7X7_HUMAN UniProtKB/TrEMBL
  X5D963 ENTREZGENE, UniProtKB/TrEMBL
  X5DP53_HUMAN UniProtKB/TrEMBL
  X5DR33_HUMAN UniProtKB/TrEMBL
  X5DRD0_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q6P4Q6 UniProtKB/Swiss-Prot