FAN1 (FANCD2 and FANCI associated nuclease 1) - Rat Genome Database

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Gene: FAN1 (FANCD2 and FANCI associated nuclease 1) Homo sapiens
Analyze
Symbol: FAN1
Name: FANCD2 and FANCI associated nuclease 1
RGD ID: 1604829
HGNC Page HGNC:29170
Description: Enables flap-structured DNA binding activity; nuclease activity; and ubiquitin-modified protein reader activity. Involved in double-strand break repair via homologous recombination; interstrand cross-link repair; and nucleotide-excision repair. Located in cytosol; intercellular bridge; and nucleoplasm. Implicated in karyomegalic interstitial nephritis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: coiled-coil domain-containing protein MTMR15; DKFZp451H236; DKFZp686K16147; FANCD2/FANCI-associated nuclease 1; fanconi anemia associated nuclease 1; fanconi-associated nuclease 1; hFAN1; KIAA1018; KMIN; MTMR15; myotubularin related protein 15; myotubularin-related protein 15; RP11-540B6.6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381530,903,852 - 30,943,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1530,890,559 - 30,943,108 (+)EnsemblGRCh38hg38GRCh38
GRCh371531,196,055 - 31,235,311 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361528,983,421 - 29,022,600 (+)NCBINCBI36Build 36hg18NCBI36
Celera158,921,590 - 8,960,771 (+)NCBICelera
Cytogenetic Map15q13.3NCBI
HuRef158,373,082 - 8,412,209 (+)NCBIHuRef
CHM1_11531,186,878 - 31,226,131 (+)NCBICHM1_1
T2T-CHM13v2.01528,697,834 - 28,737,186 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cilium  (IDA)
cytosol  (IDA)
intercellular bridge  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10231032   PMID:12477932   PMID:15186772   PMID:15342556   PMID:16344560   PMID:17148452   PMID:20603015   PMID:20603016   PMID:20603073   PMID:20671156   PMID:20935496   PMID:21115814  
PMID:21290787   PMID:21858661   PMID:21873635   PMID:22611161   PMID:22772369   PMID:22854063   PMID:23505323   PMID:24344280   PMID:24722188   PMID:24794430   PMID:24981866   PMID:25135477  
PMID:25430771   PMID:25500724   PMID:25659891   PMID:25922199   PMID:26052075   PMID:26221031   PMID:26496610   PMID:27044000   PMID:27432908   PMID:27880917   PMID:28298427   PMID:28623094  
PMID:28986522   PMID:29051491   PMID:29518739   PMID:30358836   PMID:30639725   PMID:31587151   PMID:32296183   PMID:32393512   PMID:32450113   PMID:32589923   PMID:33536335   PMID:33579867  
PMID:33961781   PMID:34126972   PMID:34228493   PMID:34469738   PMID:34879276   PMID:35181726   PMID:35379994   PMID:35914814   PMID:35931300   PMID:37549289   PMID:38607933   PMID:38892095  


Genomics

Comparative Map Data
FAN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381530,903,852 - 30,943,108 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1530,890,559 - 30,943,108 (+)EnsemblGRCh38hg38GRCh38
GRCh371531,196,055 - 31,235,311 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361528,983,421 - 29,022,600 (+)NCBINCBI36Build 36hg18NCBI36
Celera158,921,590 - 8,960,771 (+)NCBICelera
Cytogenetic Map15q13.3NCBI
HuRef158,373,082 - 8,412,209 (+)NCBIHuRef
CHM1_11531,186,878 - 31,226,131 (+)NCBICHM1_1
T2T-CHM13v2.01528,697,834 - 28,737,186 (+)NCBIT2T-CHM13v2.0
Fan1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39763,994,627 - 64,023,874 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl763,996,506 - 64,023,843 (-)EnsemblGRCm39 Ensembl
GRCm38764,345,385 - 64,374,128 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl764,346,758 - 64,374,095 (-)EnsemblGRCm38mm10GRCm38
MGSCv37771,491,644 - 71,518,981 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36764,225,708 - 64,253,042 (-)NCBIMGSCv36mm8
Celera761,791,712 - 61,822,604 (-)NCBICelera
Cytogenetic Map7CNCBI
cM Map734.64NCBI
Fan1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81127,327,098 - 127,356,807 (-)NCBIGRCr8
mRatBN7.21117,915,323 - 117,945,044 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1117,917,099 - 117,944,977 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1125,893,563 - 125,918,526 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01133,076,115 - 133,101,078 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01125,906,666 - 125,932,888 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01125,182,117 - 125,209,772 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1125,181,838 - 125,209,727 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01126,291,169 - 126,318,945 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41118,784,938 - 118,811,928 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1110,174,511 - 110,199,745 (-)NCBICelera
Cytogenetic Map1q22NCBI
Fan1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541629,722,280 - 29,757,742 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541629,722,280 - 29,757,960 (+)NCBIChiLan1.0ChiLan1.0
FAN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21619,710,997 - 19,751,128 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11524,435,150 - 24,475,583 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0159,395,348 - 9,435,434 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11528,355,689 - 28,472,109 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1528,433,749 - 28,473,211 (+)Ensemblpanpan1.1panPan2
FAN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1338,013,744 - 38,053,096 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl338,013,739 - 38,052,202 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha340,698,132 - 40,737,657 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0338,394,079 - 38,430,387 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl338,392,475 - 38,430,053 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1337,919,389 - 37,955,716 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0338,179,558 - 38,215,917 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0338,383,672 - 38,423,530 (-)NCBIUU_Cfam_GSD_1.0
Fan1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640145,384,633 - 145,418,106 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936483912,346 - 949,833 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936483916,377 - 949,833 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1143,913,551 - 143,961,646 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11143,919,695 - 143,961,678 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21159,865,134 - 159,907,029 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FAN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12651,720,822 - 51,759,652 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2651,725,017 - 51,759,413 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604889,067,263 - 89,105,386 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fan1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247681,923,777 - 1,955,255 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAN1
300 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
NM_014967.5(FAN1):c.1234+2T>A single nucleotide variant Karyomegalic interstitial nephritis [RCV000030742] Chr15:30905899 [GRCh38]
Chr15:31198102 [GRCh37]
Chr15:15q13.3
pathogenic
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
FAN1, 1-BP DEL, 2616A deletion Interstitial nephritis, karyomegalic [RCV000030745] Chr15:15q13.2-q13.3 pathogenic
NM_014967.5(FAN1):c.1375+1G>A single nucleotide variant Karyomegalic interstitial nephritis [RCV000030746] Chr15:30908259 [GRCh38]
Chr15:31200462 [GRCh37]
Chr15:15q13.3
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
NM_014967.5(FAN1):c.1606C>T (p.Arg536Ter) single nucleotide variant Interstitial nephritis, karyomegalic [RCV001292997] Chr15:30913886 [GRCh38]
Chr15:31206089 [GRCh37]
Chr15:15q13.3
pathogenic
NM_014967.5(FAN1):c.2245C>T (p.Arg749Ter) single nucleotide variant FAN1-related disorder [RCV004751230]|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
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
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
NM_014967.5(FAN1):c.93T>G (p.Ile31Met) single nucleotide variant Karyomegalic interstitial nephritis [RCV002470785]|not provided [RCV000171228] Chr15:30904756 [GRCh38]
Chr15:31196959 [GRCh37]
Chr15:15q13.3
likely pathogenic|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 15q13.2-13.3(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 15q13.1-13.3(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(chr15:30662521-32569411)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 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
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
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
NM_014967.5(FAN1):c.698G>A (p.Gly233Glu) single nucleotide variant Karyomegalic interstitial nephritis [RCV001701903]|not provided [RCV001668539]|not specified [RCV000247214] Chr15:30905361 [GRCh38]
Chr15:31197564 [GRCh37]
Chr15:15q13.3
benign
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3
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.1270C>T (p.Arg424Cys) single nucleotide variant Inborn genetic diseases [RCV002527648]|not provided [RCV000523633] Chr15:30908153 [GRCh38]
Chr15:31200356 [GRCh37]
Chr15:15q13.3
uncertain significance
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
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
NM_014967.5(FAN1):c.1090A>C (p.Asn364His) single nucleotide variant FAN1-related disorder [RCV003970093]|Karyomegalic interstitial nephritis [RCV000763956]|not provided [RCV000880502]|not specified [RCV000413270] Chr15:30905753 [GRCh38]
Chr15:31197956 [GRCh37]
Chr15:15q13.3
benign|likely benign|uncertain significance
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
NM_014967.5(FAN1):c.922_923del (p.Val308fs) deletion Karyomegalic interstitial nephritis [RCV002496868]|not provided [RCV000479696] Chr15:30905584..30905585 [GRCh38]
Chr15:31197787..31197788 [GRCh37]
Chr15:15q13.3
pathogenic|likely 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 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
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
NM_014967.5(FAN1):c.1102C>T (p.Gln368Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV000500635] Chr15:30905765 [GRCh38]
Chr15:31197968 [GRCh37]
Chr15:15q13.3
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(chr15:30913573-32444044)x3 copy number gain See cases [RCV000511905] Chr15:30913573..32444044 [GRCh37]
Chr15:15q13.2-13.3
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
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
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
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
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(chr15:31073735-31454024)x3 copy number gain not provided [RCV000683671] Chr15:31073735..31454024 [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 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(chr15:31112919-32446830)x1 copy number loss not provided [RCV000683675] Chr15:31112919..32446830 [GRCh37]
Chr15:15q13.2-13.3
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(chr15:31073668-32439300)x3 copy number gain not provided [RCV000683670] Chr15:31073668..32439300 [GRCh37]
Chr15:15q13.2-13.3
uncertain significance
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(chr15:31073735-32444044)x1 copy number loss not provided [RCV000683672] Chr15:31073735..32444044 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
GRCh37/hg19 15q13.1-13.3(chr15:29235104-32446830)x1 copy number loss not provided [RCV000683664] Chr15:29235104..32446830 [GRCh37]
Chr15:15q13.1-13.3
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(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30769995-32701482)x1 copy number loss not provided [RCV000683667] Chr15:30769995..32701482 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32914240)x1 copy number loss not provided [RCV000683673] Chr15:31073735..32914240 [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 15q13.1-13.3(chr15:28968634-32444044)x3 copy number gain not provided [RCV000683661] Chr15:28968634..32444044 [GRCh37]
Chr15:15q13.1-13.3
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.671_677dup (p.Pro227fs) duplication not provided [RCV000722461] Chr15:30905333..30905334 [GRCh38]
Chr15:31197536..31197537 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.-153+237G>T single nucleotide variant not provided [RCV001665126] Chr15:30904248 [GRCh38]
Chr15:31196451 [GRCh37]
Chr15:15q13.3
likely benign
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
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 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 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(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
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.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.1548G>A (p.Lys516=) single nucleotide variant not provided [RCV000917607] Chr15:30910786 [GRCh38]
Chr15:31202989 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1811+131C>T single nucleotide variant not provided [RCV001548702] Chr15:30914222 [GRCh38]
Chr15:31206425 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1520G>A (p.Arg507His) single nucleotide variant Karyomegalic interstitial nephritis [RCV000760173]|not provided [RCV000960066] Chr15:30910758 [GRCh38]
Chr15:30910758..30910759 [GRCh38]
Chr15:31202961 [GRCh37]
Chr15:31202961..31202962 [GRCh37]
Chr15:15q13.3
benign|likely benign|uncertain significance
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
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
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
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
NM_014967.5(FAN1):c.2418C>T (p.Asp806=) single nucleotide variant FAN1-related disorder [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 disorder [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.1686C>T (p.Asp562=) single nucleotide variant not provided [RCV000969654] Chr15:30913966 [GRCh38]
Chr15:31206169 [GRCh37]
Chr15:15q13.3
benign
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.326T>C (p.Leu109Ser) single nucleotide variant not provided [RCV000967347] Chr15:30904989 [GRCh38]
Chr15:31197192 [GRCh37]
Chr15:15q13.3
benign|likely 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
NM_014967.5(FAN1):c.1129C>T (p.Arg377Trp) single nucleotide variant not provided [RCV000883292] Chr15:30905792 [GRCh38]
Chr15:30905792..30905793 [GRCh38]
Chr15:31197995 [GRCh37]
Chr15:31197995..31197996 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.149T>G (p.Met50Arg) single nucleotide variant FAN1-related disorder [RCV003908387]|Hereditary breast ovarian cancer syndrome [RCV001374488]|Hereditary cancer [RCV003492183]|not provided [RCV000879461] Chr15:30904812 [GRCh38]
Chr15:31197015 [GRCh37]
Chr15:15q13.3
likely benign|uncertain significance
NM_014967.5(FAN1):c.1310A>G (p.Glu437Gly) single nucleotide variant not provided [RCV000882808] Chr15:30908193 [GRCh38]
Chr15:31200396 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.1329A>G (p.Leu443=) single nucleotide variant not provided [RCV000968485] Chr15:30908212 [GRCh38]
Chr15:31200415 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1626G>A (p.Arg542=) single nucleotide variant FAN1-related disorder [RCV003895602]|not provided [RCV000920953] Chr15:30913906 [GRCh38]
Chr15:31206109 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1811+9A>T single nucleotide variant FAN1-related disorder [RCV003912926]|not provided [RCV000904747] Chr15:30914100 [GRCh38]
Chr15:31206303 [GRCh37]
Chr15:15q13.3
benign|likely benign
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 15q13.2-13.3(chr15:31196867-32404084) copy number loss not provided [RCV000767729] Chr15:31196867..32404084 [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
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(chr15:30950529-32514341) 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
NM_014967.5(FAN1):c.1177A>G (p.Met393Val) single nucleotide variant not provided [RCV000967869] Chr15:30905840 [GRCh38]
Chr15:31198043 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.2862T>C (p.Cys954=) single nucleotide variant FAN1-related disorder [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.1737C>T (p.Leu579=) single nucleotide variant not provided [RCV000918030] Chr15:30914017 [GRCh38]
Chr15:31206220 [GRCh37]
Chr15:15q13.3
likely benign
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(chr15:30654617-32445252) copy number gain not provided [RCV000767755] Chr15:30654617..32445252 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
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.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.1811+6A>G single nucleotide variant FAN1-related disorder [RCV003968201]|not provided [RCV000897212] Chr15:30914097 [GRCh38]
Chr15:31206300 [GRCh37]
Chr15:15q13.3
benign
NM_014967.5(FAN1):c.846T>C (p.Ser282=) single nucleotide variant not provided [RCV000915878] Chr15:30905509 [GRCh38]
Chr15:31197712 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1494C>T (p.Asp498=) single nucleotide variant FAN1-related disorder [RCV003950816]|not provided [RCV000915318] Chr15:30910732 [GRCh38]
Chr15:31202935 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.2413G>A (p.Ala805Thr) single nucleotide variant FAN1-related disorder [RCV003940752]|not provided [RCV000894046] Chr15:30925864 [GRCh38]
Chr15:31218067 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.2525A>G (p.Tyr842Cys) single nucleotide variant FAN1-related disorder [RCV004751844]|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
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
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 15q13.2-13.3(chr15:30927362-32929514) copy number gain not provided [RCV000767756] Chr15:30927362..32929514 [GRCh37]
Chr15:15q13.2-13.3
likely pathogenic
NM_014967.5(FAN1):c.507A>G (p.Ser169=) single nucleotide variant not provided [RCV000976774] Chr15:30905170 [GRCh38]
Chr15:31197373 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.225G>A (p.Gly75=) single nucleotide variant not provided [RCV000975454] Chr15:30904888 [GRCh38]
Chr15:31197091 [GRCh37]
Chr15:15q13.3
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787382] Chr15:30405535..32914190 [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_014967.5(FAN1):c.1350G>A (p.Leu450=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002495531]|not provided [RCV000917917] Chr15:30908233 [GRCh38]
Chr15:31200436 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.603C>T (p.Asp201=) single nucleotide variant FAN1-related disorder [RCV003905882]|not provided [RCV000964533] Chr15:30905266 [GRCh38]
Chr15:31197469 [GRCh37]
Chr15:15q13.3
likely benign
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
NM_014967.5(FAN1):c.718G>A (p.Glu240Lys) single nucleotide variant not provided [RCV000892493] Chr15:30905381 [GRCh38]
Chr15:31197584 [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 15q13.1-13.3(chr15:28946433-32446830)x1 copy number loss not provided [RCV001006668] Chr15:28946433..32446830 [GRCh37]
Chr15:15q13.1-13.3
pathogenic
NM_014967.5(FAN1):c.1899del (p.Cys633fs) deletion Karyomegalic interstitial nephritis [RCV002497330]|not provided [RCV001008064] Chr15:30918251 [GRCh38]
Chr15:31210454 [GRCh37]
Chr15:15q13.3
pathogenic|likely pathogenic
NM_014967.5(FAN1):c.1113dup (p.His372fs) duplication not provided [RCV000995286] Chr15:30905775..30905776 [GRCh38]
Chr15:31197978..31197979 [GRCh37]
Chr15:15q13.3
uncertain significance
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_000015.9: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.472A>G (p.Lys158Glu) single nucleotide variant Inborn genetic diseases [RCV003273126] Chr15:30905135 [GRCh38]
Chr15:31197338 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.601G>A (p.Asp201Asn) single nucleotide variant Inborn genetic diseases [RCV003241345] Chr15:30905264 [GRCh38]
Chr15:31197467 [GRCh37]
Chr15:15q13.3
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.1811+233dup duplication not provided [RCV001674029] Chr15:30914322..30914323 [GRCh38]
Chr15:31206525..31206526 [GRCh37]
Chr15:15q13.3
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.1375+49T>G single nucleotide variant not provided [RCV001598569] Chr15:30908307 [GRCh38]
Chr15:31200510 [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.1375+222T>A single nucleotide variant not provided [RCV001612714] Chr15:30908480 [GRCh38]
Chr15:31200683 [GRCh37]
Chr15:15q13.3
benign
NM_014967.5(FAN1):c.1577+75C>T single nucleotide variant not provided [RCV001688982] Chr15:30910890 [GRCh38]
Chr15:31203093 [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.1812-155G>A single nucleotide variant not provided [RCV001654321] Chr15:30918009 [GRCh38]
Chr15:31210212 [GRCh37]
Chr15:15q13.3
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.2052+45C>T single nucleotide variant not provided [RCV001693320] Chr15:30920698 [GRCh38]
Chr15:31212901 [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.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.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 disorder [RCV003930704]|not provided [RCV000887938]|not specified [RCV001579941] Chr15:30920541 [GRCh38]
Chr15:31212744 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.807C>T (p.Phe269=) single nucleotide variant not provided [RCV000888016] Chr15:30905470 [GRCh38]
Chr15:31197673 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1143G>A (p.Val381=) single nucleotide variant not provided [RCV000925864] Chr15:30905806 [GRCh38]
Chr15:31198009 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1194G>A (p.Glu398=) single nucleotide variant not provided [RCV000894704] Chr15:30905857 [GRCh38]
Chr15:31198060 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.557C>A (p.Ser186Tyr) single nucleotide variant not provided [RCV000886877] Chr15:30905220 [GRCh38]
Chr15:31197423 [GRCh37]
Chr15:15q13.3
benign|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.642C>T (p.Asn214=) single nucleotide variant not provided [RCV000909480] Chr15:30905305 [GRCh38]
Chr15:31197508 [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.783G>A (p.Ala261=) single nucleotide variant FAN1-related disorder [RCV003955896]|not provided [RCV000885076] Chr15:30905446 [GRCh38]
Chr15:31197649 [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
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.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.-152-140G>A single nucleotide variant not provided [RCV001562000] Chr15:30904372 [GRCh38]
Chr15:31196575 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1375+141T>C single nucleotide variant not provided [RCV001564857] Chr15:30908399 [GRCh38]
Chr15:31200602 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1235-148A>T single nucleotide variant not provided [RCV001661075] Chr15:30907970 [GRCh38]
Chr15:31200173 [GRCh37]
Chr15:15q13.3
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
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
NM_014967.5(FAN1):c.1943+153A>G single nucleotide variant not provided [RCV001709819] Chr15:30918448 [GRCh38]
Chr15:31210651 [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.2053-129C>T single nucleotide variant not provided [RCV001560661] Chr15:30922106 [GRCh38]
Chr15:31214309 [GRCh37]
Chr15:15q13.3
likely benign
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(chr15:31103537-31553251)x3 copy number gain not provided [RCV001006670] Chr15:31103537..31553251 [GRCh37]
Chr15:15q13.2-13.3
uncertain significance
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.1702C>T (p.Gln568Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV001536108] Chr15:30913982 [GRCh38]
Chr15:31206185 [GRCh37]
Chr15:15q13.3
pathogenic
NM_014967.5(FAN1):c.2172+92A>G single nucleotide variant not provided [RCV001597372] Chr15:30922446 [GRCh38]
Chr15:31214649 [GRCh37]
Chr15:15q13.3
benign
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
NM_014967.5(FAN1):c.1110C>T (p.Thr370=) single nucleotide variant FAN1-related disorder [RCV003921203]|not provided [RCV001545324] Chr15:30905773 [GRCh38]
Chr15:31197976 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.2271G>C (p.Pro757=) single nucleotide variant FAN1-related disorder [RCV003913332]|not provided [RCV001714224] Chr15:30925225 [GRCh38]
Chr15:31217428 [GRCh37]
Chr15:15q13.3
benign
NM_014967.5(FAN1):c.1812-157T>G single nucleotide variant not provided [RCV001598075] Chr15:30918007 [GRCh38]
Chr15:31210210 [GRCh37]
Chr15:15q13.3
benign
NM_014967.5(FAN1):c.1851C>T (p.Ser617=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002501958]|not provided [RCV001592125]|not specified [RCV001796605] Chr15:30918203 [GRCh38]
Chr15:31210406 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.1812-327A>T single nucleotide variant not provided [RCV001596328] Chr15:30917837 [GRCh38]
Chr15:31210040 [GRCh37]
Chr15:15q13.3
likely 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(chr15:30936285-32514341)x3 copy number gain See cases [RCV001007425] Chr15:30936285..32514341 [GRCh37]
Chr15:15q13.2-13.3
likely pathogenic
NM_014967.5(FAN1):c.1234+299A>G single nucleotide variant not provided [RCV001614207] Chr15:30906196 [GRCh38]
Chr15:31198399 [GRCh37]
Chr15:15q13.3
benign
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.1376-30T>A single nucleotide variant not provided [RCV001610959] Chr15:30910584 [GRCh38]
Chr15:31202787 [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+275_2787+279del microsatellite not provided [RCV001681958] Chr15:30929667..30929671 [GRCh38]
Chr15:31221870..31221874 [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.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.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.2489-46TG[18] microsatellite not provided [RCV001669673] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [GRCh37]
Chr15:15q13.3
benign
NM_014967.5(FAN1):c.1578-14T>G single nucleotide variant not provided [RCV001652220] Chr15:30913844 [GRCh38]
Chr15:31206047 [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
NM_014967.5(FAN1):c.2173-219C>T single nucleotide variant not provided [RCV001537336] Chr15:30924908 [GRCh38]
Chr15:31217111 [GRCh37]
Chr15:15q13.3
benign
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
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 15q13.2-13.3(chr15:30935243-32445105)x1 copy number loss not provided [RCV001537886] Chr15:30935243..32445105 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
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
NM_014967.5(FAN1):c.-152-165A>G single nucleotide variant not provided [RCV001641322] Chr15:30904347 [GRCh38]
Chr15:31196550 [GRCh37]
Chr15:15q13.3
benign
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
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(chr15:30374368-32446830)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
NM_014967.5(FAN1):c.256_257del (p.Met86fs) deletion Karyomegalic interstitial nephritis [RCV001267760] Chr15:30904918..30904919 [GRCh38]
Chr15:31197121..31197122 [GRCh37]
Chr15:15q13.3
pathogenic
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.-152-7_-152-5del microsatellite not provided [RCV001765928] Chr15:30904500..30904502 [GRCh38]
Chr15:31196703..31196705 [GRCh37]
Chr15:15q13.3
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
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(chr15:30943903-32510863) copy number loss Global developmental delay [RCV001291980] Chr15:30943903..32510863 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
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
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.*260_*262del deletion Karyomegalic interstitial nephritis [RCV001336220] Chr15:30941820..30941822 [GRCh38]
Chr15:31234023..31234025 [GRCh37]
Chr15:15q13.3
uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:31073735-32444044)x1 copy number loss FETAL DEMISE [RCV002284317] Chr15:31073735..32444044 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943) copy number gain Intellectual disability [RCV001291970] Chr15:30652489..32438943 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
NM_014967.5(FAN1):c.1376-320G>A single nucleotide variant not provided [RCV001694589] Chr15:30910294 [GRCh38]
Chr15:31202497 [GRCh37]
Chr15:15q13.3
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.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.2489-46TG[19] microsatellite not provided [RCV001611414] Chr15:30928506..30928507 [GRCh38]
Chr15:31220709..31220710 [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.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.*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
NM_014967.5(FAN1):c.332del (p.Pro111fs) deletion Karyomegalic interstitial nephritis [RCV001536087] Chr15:30904992 [GRCh38]
Chr15:31197195 [GRCh37]
Chr15:15q13.3
likely 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
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
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.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
NM_014967.5(FAN1):c.1235-189T>G single nucleotide variant not provided [RCV001765089] Chr15:30907929 [GRCh38]
Chr15:31200132 [GRCh37]
Chr15:15q13.3
benign
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.80C>T (p.Ser27Phe) single nucleotide variant FAN1-related disorder [RCV003956417]|not provided [RCV001864031] Chr15:30904743 [GRCh38]
Chr15:31196946 [GRCh37]
Chr15:15q13.3
uncertain significance
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
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
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(chr15:30913574-32019919)x1 copy number loss not provided [RCV001827773] Chr15:30913574..32019919 [GRCh37]
Chr15:15q13.2-13.3
uncertain significance
NM_014967.5(FAN1):c.877G>T (p.Val293Phe) single nucleotide variant Karyomegalic interstitial nephritis [RCV002486615]|not provided [RCV002010309] Chr15:30905540 [GRCh38]
Chr15:31197743 [GRCh37]
Chr15:15q13.3
uncertain significance
NC_000015.9:g.(?_31196867)_(32404120_?)dup duplication not provided [RCV001940131] Chr15:31196867..32404120 [GRCh37]
Chr15:15q13.2-13.3
uncertain significance
NM_014967.5(FAN1):c.611A>G (p.Gln204Arg) single nucleotide variant not provided [RCV001933188] Chr15:30905274 [GRCh38]
Chr15:31197477 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1A>G (p.Met1Val) single nucleotide variant Karyomegalic interstitial nephritis [RCV002490003]|not provided [RCV001899896] Chr15:30904664 [GRCh38]
Chr15:31196867 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.174G>A (p.Arg58=) single nucleotide variant Karyomegalic interstitial nephritis [RCV002499933]|not provided [RCV002104872] Chr15:30904837 [GRCh38]
Chr15:31197040 [GRCh37]
Chr15:15q13.3
likely benign
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
NC_000015.9:g.(?_30906349)_(32446187_?)del deletion not provided [RCV003105325] Chr15:30906349..32446187 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
NM_014967.5(FAN1):c.322_323del (p.Asn108fs) deletion Karyomegalic interstitial nephritis [RCV004787202] Chr15:30904984..30904985 [GRCh38]
Chr15:31197187..31197188 [GRCh37]
Chr15:15q13.3
pathogenic
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(chr15:30899058-32446187)x1 copy number loss not provided [RCV002276016] Chr15:30899058..32446187 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32914240) 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(chr15:30696635-32783786)x3 copy number gain not provided [RCV002292910] Chr15:30696635..32783786 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
GRCh37/hg19 15q13.2-13.3(chr15:31098690-32444044)x1 copy number loss See cases [RCV002293402] Chr15:31098690..32444044 [GRCh37]
Chr15:15q13.2-13.3
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
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
NM_014967.5(FAN1):c.370A>G (p.Lys124Glu) single nucleotide variant Inborn genetic diseases [RCV003262811] Chr15:30905033 [GRCh38]
Chr15:31197236 [GRCh37]
Chr15:15q13.3
uncertain significance
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(chr15:30913574-32446830)x1 copy number loss not provided [RCV002474527] Chr15:30913574..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
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_014967.5(FAN1):c.328A>G (p.Thr110Ala) single nucleotide variant Inborn genetic diseases [RCV002777474] Chr15:30904991 [GRCh38]
Chr15:31197194 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1016C>A (p.Ala339Asp) single nucleotide variant Inborn genetic diseases [RCV002732414] Chr15:30905679 [GRCh38]
Chr15:31197882 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.330C>T (p.Thr110=) single nucleotide variant not provided [RCV002904700] Chr15:30904993 [GRCh38]
Chr15:31197196 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.434G>A (p.Arg145His) single nucleotide variant FAN1-related disorder [RCV003973530]|not provided [RCV002908660] Chr15:30905097 [GRCh38]
Chr15:31197300 [GRCh37]
Chr15:15q13.3
benign|likely benign
NM_014967.5(FAN1):c.944A>G (p.Gln315Arg) single nucleotide variant Inborn genetic diseases [RCV002901557] Chr15:30905607 [GRCh38]
Chr15:31197810 [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 not specified [RCV004210385] Chr15:30942976 [GRCh38]
Chr15:31235179 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_017762.3(MTMR10):c.2098C>T (p.Arg700Cys) single nucleotide variant not specified [RCV004195228] Chr15:30941706 [GRCh38]
Chr15:31233909 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1204G>A (p.Gly402Arg) single nucleotide variant Inborn genetic diseases [RCV002880130] Chr15:30905867 [GRCh38]
Chr15:31198070 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_017762.3(MTMR10):c.2007G>C (p.Gln669His) single nucleotide variant not specified [RCV004090964] Chr15:30941797 [GRCh38]
Chr15:31234000 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_017762.3(MTMR10):c.1869G>C (p.Gln623His) single nucleotide variant not specified [RCV004240273] Chr15:30941935 [GRCh38]
Chr15:31234138 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.599A>G (p.Glu200Gly) single nucleotide variant Inborn genetic diseases [RCV002844742] Chr15:30905262 [GRCh38]
Chr15:31197465 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.119C>G (p.Ala40Gly) single nucleotide variant FAN1-related disorder [RCV004750756]|not provided [RCV002623031] Chr15:30904782 [GRCh38]
Chr15:31196985 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.292A>G (p.Thr98Ala) single nucleotide variant not provided [RCV002619648] Chr15:30904955 [GRCh38]
Chr15:31197158 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.771C>T (p.Phe257=) single nucleotide variant not provided [RCV002659126] Chr15:30905434 [GRCh38]
Chr15:31197637 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1252T>C (p.Tyr418His) single nucleotide variant not provided [RCV002640337] Chr15:30908135 [GRCh38]
Chr15:31200338 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.607G>A (p.Asp203Asn) single nucleotide variant not provided [RCV002847658] Chr15:30905270 [GRCh38]
Chr15:31197473 [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_014967.5(FAN1):c.886C>T (p.Arg296Cys) single nucleotide variant Inborn genetic diseases [RCV003001592] Chr15:30905549 [GRCh38]
Chr15:31197752 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.565G>A (p.Val189Ile) single nucleotide variant not provided [RCV002780507] Chr15:30905228 [GRCh38]
Chr15:31197431 [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.308C>A (p.Pro103Gln) single nucleotide variant not provided [RCV002949224] Chr15:30904971 [GRCh38]
Chr15:31197174 [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.518A>G (p.Asp173Gly) single nucleotide variant not provided [RCV003080967] Chr15:30905181 [GRCh38]
Chr15:31197384 [GRCh37]
Chr15:15q13.3
uncertain significance
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.1562G>A (p.Ser521Asn) single nucleotide variant not specified [RCV004174420] Chr15:30943059 [GRCh38]
Chr15:31235262 [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_014967.5(FAN1):c.1607G>A (p.Arg536Gln) single nucleotide variant Inborn genetic diseases [RCV002910911] Chr15:30913887 [GRCh38]
Chr15:31206090 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1690G>A (p.Ala564Thr) single nucleotide variant FAN1-related disorder [RCV003420403]|Inborn genetic diseases [RCV002659734] Chr15:30913970 [GRCh38]
Chr15:31206173 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1111G>A (p.Gly371Ser) single nucleotide variant Inborn genetic diseases [RCV002910665] Chr15:30905774 [GRCh38]
Chr15:31197977 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1348T>C (p.Leu450=) single nucleotide variant not provided [RCV002958348] Chr15:30908231 [GRCh38]
Chr15:31200434 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.833C>G (p.Thr278Ser) single nucleotide variant not provided [RCV002666813] Chr15:30905496 [GRCh38]
Chr15:31197699 [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|likely 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.1389A>C (p.Gln463His) single nucleotide variant FAN1-related disorder [RCV003395655]|Inborn genetic diseases [RCV002955731]|Karyomegalic interstitial nephritis [RCV004786861] Chr15:30910627 [GRCh38]
Chr15:31202830 [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.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.1862A>T (p.Asn621Ile) single nucleotide variant Inborn genetic diseases [RCV002915574] Chr15:30918214 [GRCh38]
Chr15:31210417 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.490G>A (p.Val164Ile) single nucleotide variant Inborn genetic diseases [RCV002875306] Chr15:30905153 [GRCh38]
Chr15:31197356 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.717C>T (p.Ala239=) single nucleotide variant not provided [RCV002596911] Chr15:30905380 [GRCh38]
Chr15:31197583 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1520G>C (p.Arg507Pro) single nucleotide variant not provided [RCV002595091] Chr15:30910758 [GRCh38]
Chr15:31202961 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.217G>T (p.Asp73Tyr) single nucleotide variant Inborn genetic diseases [RCV002954831] Chr15:30904880 [GRCh38]
Chr15:31197083 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.107A>G (p.Asn36Ser) single nucleotide variant Inborn genetic diseases [RCV002986514] Chr15:30904770 [GRCh38]
Chr15:31196973 [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.1771C>T (p.Arg591Trp) single nucleotide variant Inborn genetic diseases [RCV004617113]|not provided [RCV002932551] Chr15:30914051 [GRCh38]
Chr15:31206254 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.289del (p.Asp96_Val97insTer) deletion not provided [RCV002663663] Chr15:30904952 [GRCh38]
Chr15:31197155 [GRCh37]
Chr15:15q13.3
pathogenic
NM_014967.5(FAN1):c.1689C>A (p.Ala563=) single nucleotide variant not provided [RCV003041139] Chr15:30913969 [GRCh38]
Chr15:31206172 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.296C>T (p.Pro99Leu) single nucleotide variant Inborn genetic diseases [RCV002762986] Chr15:30904959 [GRCh38]
Chr15:31197162 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.34dup (p.Arg12fs) duplication not provided [RCV003092122] Chr15:30904690..30904691 [GRCh38]
Chr15:31196893..31196894 [GRCh37]
Chr15:15q13.3
pathogenic
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 not specified [RCV004177478] Chr15:30941699 [GRCh38]
Chr15:31233902 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.229G>T (p.Val77Phe) single nucleotide variant not provided [RCV002602334] Chr15:30904892 [GRCh38]
Chr15:31197095 [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 not specified [RCV004078994] Chr15:30941618 [GRCh38]
Chr15:31233821 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1826C>T (p.Thr609Met) single nucleotide variant Inborn genetic diseases [RCV002669045] Chr15:30918178 [GRCh38]
Chr15:31210381 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.982G>C (p.Asp328His) single nucleotide variant Inborn genetic diseases [RCV002919869] Chr15:30905645 [GRCh38]
Chr15:31197848 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1914G>T (p.Trp638Cys) single nucleotide variant not provided [RCV002720976] Chr15:30918266 [GRCh38]
Chr15:31210469 [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_014967.5(FAN1):c.5T>C (p.Met2Thr) single nucleotide variant FAN1-related disorder [RCV003973539]|not provided [RCV002921881] Chr15:30904668 [GRCh38]
Chr15:31196871 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.453T>C (p.Cys151=) single nucleotide variant not provided [RCV002770253] Chr15:30905116 [GRCh38]
Chr15:31197319 [GRCh37]
Chr15:15q13.3
likely benign
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_014967.5(FAN1):c.780T>G (p.Asn260Lys) single nucleotide variant not provided [RCV002653431] Chr15:30905443 [GRCh38]
Chr15:31197646 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2381A>G (p.Lys794Arg) single nucleotide variant FAN1-related disorder [RCV004750793]|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_014967.5(FAN1):c.1356T>G (p.Asn452Lys) single nucleotide variant not provided [RCV002588785] Chr15:30908239 [GRCh38]
Chr15:31200442 [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.1184T>C (p.Leu395Pro) single nucleotide variant Karyomegalic interstitial nephritis [RCV003143487]|not provided [RCV003092966] Chr15:30905847 [GRCh38]
Chr15:31198050 [GRCh37]
Chr15:15q13.3
likely benign|uncertain significance
NM_014967.5(FAN1):c.1577+13A>G single nucleotide variant not provided [RCV002609708] Chr15:30910828 [GRCh38]
Chr15:31203031 [GRCh37]
Chr15:15q13.3
likely benign
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_014967.5(FAN1):c.560_561del (p.Thr187fs) microsatellite Karyomegalic interstitial nephritis [RCV003145111] Chr15:30905221..30905222 [GRCh38]
Chr15:31197424..31197425 [GRCh37]
Chr15:15q13.3
likely pathogenic
NM_014967.5(FAN1):c.2155T>G (p.Leu719Val) single nucleotide variant FAN1-related disorder [RCV003418811] Chr15:30922337 [GRCh38]
Chr15:31214540 [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
NM_014967.5(FAN1):c.1829A>G (p.His610Arg) single nucleotide variant Inborn genetic diseases [RCV003206184] Chr15:30918181 [GRCh38]
Chr15:31210384 [GRCh37]
Chr15:15q13.3
uncertain significance
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
NM_017762.3(MTMR10):c.2090G>A (p.Arg697Gln) single nucleotide variant not specified [RCV004250059] 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 not specified [RCV004248574] Chr15:30941883 [GRCh38]
Chr15:31234086 [GRCh37]
Chr15:15q13.3
uncertain significance
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
NM_017762.3(MTMR10):c.2082G>C (p.Arg694Ser) single nucleotide variant not specified [RCV004270962] Chr15:30941722 [GRCh38]
Chr15:31233925 [GRCh37]
Chr15:15q13.3
uncertain significance
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_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(chr15:31073735-32446830) copy number loss Chromosome 15q13.3 microdeletion syndrome [RCV003319584] Chr15:31073735..32446830 [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(chr15:30850097-32693726)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
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(chr15:30897996-32442006)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(chr15:30850147-32404100)x1 copy number loss not provided [RCV003334185] Chr15:30850147..32404100 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
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 not specified [RCV004357469] Chr15:30941938 [GRCh38]
Chr15:31234141 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1603G>A (p.Val535Ile) single nucleotide variant Inborn genetic diseases [RCV003367218] Chr15:30913883 [GRCh38]
Chr15:31206086 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.865A>T (p.Ile289Phe) single nucleotide variant Inborn genetic diseases [RCV003370377] Chr15:30905528 [GRCh38]
Chr15:31197731 [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
NM_014967.5(FAN1):c.51A>T (p.Leu17Phe) single nucleotide variant Inborn genetic diseases [RCV003364809] Chr15:30904714 [GRCh38]
Chr15:31196917 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.736C>T (p.Arg246Trp) single nucleotide variant Inborn genetic diseases [RCV003363868] Chr15:30905399 [GRCh38]
Chr15:31197602 [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 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.141C>A (p.Cys47Ter) single nucleotide variant FAN1-related disorder [RCV003421140] Chr15:30904804 [GRCh38]
Chr15:31197007 [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
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3
pathogenic
NC_000015.10:g.30801393T>C single nucleotide variant not provided [RCV003393744] Chr15:30801393 [GRCh38]
Chr15:31093596 [GRCh37]
Chr15:15q13.2
benign
NM_014967.5(FAN1):c.1227G>C (p.Gln409His) single nucleotide variant not provided [RCV003393745] Chr15:30905890 [GRCh38]
Chr15:31198093 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1733A>G (p.Asn578Ser) single nucleotide variant FAN1-related disorder [RCV003397628] Chr15:30914013 [GRCh38]
Chr15:31206216 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2219C>T (p.Thr740Met) single nucleotide variant FAN1-related disorder [RCV003402714] Chr15:30925173 [GRCh38]
Chr15:31217376 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1820C>G (p.Ala607Gly) single nucleotide variant FAN1-related disorder [RCV003391500] Chr15:30918172 [GRCh38]
Chr15:31210375 [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
NM_014967.5(FAN1):c.461G>A (p.Ser154Asn) single nucleotide variant FAN1-related disorder [RCV003392819] Chr15:30905124 [GRCh38]
Chr15:31197327 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.418G>T (p.Asp140Tyr) single nucleotide variant FAN1-related disorder [RCV003405766] Chr15:30905081 [GRCh38]
Chr15:31197284 [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.2245C>G (p.Arg749Gly) single nucleotide variant FAN1-related disorder [RCV003403013] Chr15:30925199 [GRCh38]
Chr15:31217402 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2906G>T (p.Arg969Leu) single nucleotide variant FAN1-related disorder [RCV003427963] Chr15:30930661 [GRCh38]
Chr15:31222864 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1063A>T (p.Ile355Phe) single nucleotide variant not provided [RCV003659822] Chr15:30905726 [GRCh38]
Chr15:31197929 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.876_877delinsCT (p.Val293Phe) indel not provided [RCV003695571] Chr15:30905539..30905540 [GRCh38]
Chr15:31197742..31197743 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.299dup (p.Lys101fs) duplication not provided [RCV003688453] Chr15:30904960..30904961 [GRCh38]
Chr15:31197163..31197164 [GRCh37]
Chr15:15q13.3
pathogenic
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.1665C>T (p.Thr555=) single nucleotide variant not provided [RCV003881088] Chr15:30913945 [GRCh38]
Chr15:31206148 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.828G>A (p.Lys276=) single nucleotide variant FAN1-related disorder [RCV003939218]|not provided [RCV003826941] Chr15:30905491 [GRCh38]
Chr15:31197694 [GRCh37]
Chr15:15q13.3
likely benign
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.1890C>T (p.Leu630=) single nucleotide variant not provided [RCV003834686] Chr15:30918242 [GRCh38]
Chr15:31210445 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1511C>T (p.Ala504Val) single nucleotide variant not provided [RCV003832257] Chr15:30910749 [GRCh38]
Chr15:31202952 [GRCh37]
Chr15:15q13.3
uncertain significance
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.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.1369C>T (p.Gln457Ter) single nucleotide variant Karyomegalic interstitial nephritis [RCV004584571] Chr15:30908252 [GRCh38]
Chr15:31200455 [GRCh37]
Chr15:15q13.3
pathogenic
NM_014967.5(FAN1):c.1578-18A>G single nucleotide variant not provided [RCV003672804] Chr15:30913840 [GRCh38]
Chr15:31206043 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.2577C>T (p.Phe859=) single nucleotide variant FAN1-related disorder [RCV003981031]|not provided [RCV003671888] Chr15:30928641 [GRCh38]
Chr15:31220844 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.731C>T (p.Ala244Val) single nucleotide variant not provided [RCV003718004] Chr15:30905394 [GRCh38]
Chr15:31197597 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.666G>A (p.Lys222=) single nucleotide variant not provided [RCV003549324] Chr15:30905329 [GRCh38]
Chr15:31197532 [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.2761C>T (p.Arg921Cys) single nucleotide variant FAN1-related disorder [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.972_973del (p.His324fs) deletion not provided [RCV003552192] Chr15:30905634..30905635 [GRCh38]
Chr15:31197837..31197838 [GRCh37]
Chr15:15q13.3
pathogenic
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 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
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 15q13.2-13.3(chr15:30913573-32914239)x1 copy number loss not specified [RCV003987087] Chr15:30913573..32914239 [GRCh37]
Chr15:15q13.2-13.3
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.1728G>A (p.Leu576=) single nucleotide variant not provided [RCV003734837] Chr15:30914008 [GRCh38]
Chr15:31206211 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.363A>G (p.Val121=) single nucleotide variant not provided [RCV003553140] Chr15:30905026 [GRCh38]
Chr15:31197229 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1818A>G (p.Ala606=) single nucleotide variant not provided [RCV003843005] Chr15:30918170 [GRCh38]
Chr15:31210373 [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.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.905AAG[1] (p.Glu303del) microsatellite not provided [RCV003728347] Chr15:30905567..30905569 [GRCh38]
Chr15:31197770..31197772 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1734C>T (p.Asn578=) single nucleotide variant not provided [RCV003729724] Chr15:30914014 [GRCh38]
Chr15:31206217 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1492G>A (p.Asp498Asn) single nucleotide variant not provided [RCV003854054] Chr15:30910730 [GRCh38]
Chr15:31202933 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1836G>T (p.Leu612=) single nucleotide variant not provided [RCV003731482] Chr15:30918188 [GRCh38]
Chr15:31210391 [GRCh37]
Chr15:15q13.3
benign
NM_014967.5(FAN1):c.1834C>T (p.Leu612=) single nucleotide variant FAN1-related disorder [RCV003899033] Chr15:30918186 [GRCh38]
Chr15:31210389 [GRCh37]
Chr15:15q13.3
likely benign
NM_017762.3(MTMR10):c.1763C>G (p.Pro588Arg) single nucleotide variant not specified [RCV004509553] Chr15:30942041 [GRCh38]
Chr15:31234244 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1671A>G (p.Ser557=) single nucleotide variant FAN1-related disorder [RCV003956687] Chr15:30913951 [GRCh38]
Chr15:31206154 [GRCh37]
Chr15:15q13.3
likely benign
NM_017762.3(MTMR10):c.1933A>G (p.Ile645Val) single nucleotide variant not specified [RCV004509565] Chr15:30941871 [GRCh38]
Chr15:31234074 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1930C>T (p.His644Tyr) single nucleotide variant FAN1-related disorder [RCV003983326] Chr15:30918282 [GRCh38]
Chr15:31210485 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2593-4A>G single nucleotide variant FAN1-related disorder [RCV003894292] Chr15:30929199 [GRCh38]
Chr15:31221402 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.585C>G (p.Asn195Lys) single nucleotide variant FAN1-related disorder [RCV003983655] Chr15:30905248 [GRCh38]
Chr15:31197451 [GRCh37]
Chr15:15q13.3
uncertain significance
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
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
NM_014967.5(FAN1):c.1794C>T (p.Asp598=) single nucleotide variant FAN1-related disorder [RCV003899791] Chr15:30914074 [GRCh38]
Chr15:31206277 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1552G>A (p.Gly518Arg) single nucleotide variant FAN1-related disorder [RCV003894458] Chr15:30910790 [GRCh38]
Chr15:31202993 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.279C>T (p.Thr93=) single nucleotide variant FAN1-related disorder [RCV003921687] Chr15:30904942 [GRCh38]
Chr15:31197145 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.2274C>T (p.Ser758=) single nucleotide variant FAN1-related disorder [RCV003944018] Chr15:30925228 [GRCh38]
Chr15:31217431 [GRCh37]
Chr15:15q13.3
likely benign
NM_017762.3(MTMR10):c.2170C>T (p.His724Tyr) single nucleotide variant not specified [RCV004509586] Chr15:30941634 [GRCh38]
Chr15:31233837 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2107A>C (p.Ser703Arg) single nucleotide variant Inborn genetic diseases [RCV004383681] Chr15:30922289 [GRCh38]
Chr15:31214492 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2228G>A (p.Arg743His) single nucleotide variant Inborn genetic diseases [RCV004383683] Chr15:30925182 [GRCh38]
Chr15:31217385 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2945G>A (p.Arg982His) single nucleotide variant Inborn genetic diseases [RCV004383688] Chr15:30937147 [GRCh38]
Chr15:31229350 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1640G>A (p.Arg547His) single nucleotide variant Inborn genetic diseases [RCV004383680] Chr15:30913920 [GRCh38]
Chr15:31206123 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2117G>A (p.Arg706Gln) single nucleotide variant Inborn genetic diseases [RCV004383682] Chr15:30922299 [GRCh38]
Chr15:31214502 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.651A>T (p.Lys217Asn) single nucleotide variant Inborn genetic diseases [RCV004383691] Chr15:30905314 [GRCh38]
Chr15:31197517 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.782C>T (p.Ala261Val) single nucleotide variant Inborn genetic diseases [RCV004383694] Chr15:30905445 [GRCh38]
Chr15:31197648 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.2664G>T (p.Gln888His) single nucleotide variant Inborn genetic diseases [RCV004383686] Chr15:30929274 [GRCh38]
Chr15:31221477 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2986A>C (p.Lys996Gln) single nucleotide variant Inborn genetic diseases [RCV004383689] Chr15:30937188 [GRCh38]
Chr15:31229391 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.469T>C (p.Ser157Pro) single nucleotide variant Inborn genetic diseases [RCV004383690] Chr15:30905132 [GRCh38]
Chr15:31197335 [GRCh37]
Chr15:15q13.3
uncertain significance
GRCh37/hg19 15q13.2-13.3(chr15:30935396-32444881)x3 copy number gain not provided [RCV004577469] Chr15:30935396..32444881 [GRCh37]
Chr15:15q13.2-13.3
pathogenic
NM_014967.5(FAN1):c.2641C>T (p.Pro881Ser) single nucleotide variant Inborn genetic diseases [RCV004383685] Chr15:30929251 [GRCh38]
Chr15:31221454 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2794G>C (p.Val932Leu) single nucleotide variant Inborn genetic diseases [RCV004383687] Chr15:30930549 [GRCh38]
Chr15:31222752 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1093G>T (p.Gly365Cys) single nucleotide variant FAN1-related disorder [RCV004750956]|Inborn genetic diseases [RCV004383679] Chr15:30905756 [GRCh38]
Chr15:31197959 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.685C>T (p.His229Tyr) single nucleotide variant Inborn genetic diseases [RCV004383692] Chr15:30905348 [GRCh38]
Chr15:31197551 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.6G>C (p.Met2Ile) single nucleotide variant Inborn genetic diseases [RCV004383693] Chr15:30904669 [GRCh38]
Chr15:31196872 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.862T>G (p.Cys288Gly) single nucleotide variant Inborn genetic diseases [RCV004620708] Chr15:30905525 [GRCh38]
Chr15:31197728 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.342T>A (p.Ser114Arg) single nucleotide variant Inborn genetic diseases [RCV004620713] Chr15:30905005 [GRCh38]
Chr15:31197208 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1738G>A (p.Gly580Ser) single nucleotide variant Inborn genetic diseases [RCV004620705]|not provided [RCV004759431] Chr15:30914018 [GRCh38]
Chr15:31206221 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_017762.3(MTMR10):c.1807C>G (p.Pro603Ala) single nucleotide variant not specified [RCV004638498] Chr15:30941997 [GRCh38]
Chr15:31234200 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1240G>A (p.Gly414Ser) single nucleotide variant Inborn genetic diseases [RCV004620707] Chr15:30908123 [GRCh38]
Chr15:31200326 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1639C>T (p.Arg547Cys) single nucleotide variant Inborn genetic diseases [RCV004620710] Chr15:30913919 [GRCh38]
Chr15:31206122 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_017762.3(MTMR10):c.2071G>A (p.Val691Ile) single nucleotide variant not specified [RCV004646770] Chr15:30941733 [GRCh38]
Chr15:31233936 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_017762.3(MTMR10):c.1609G>C (p.Val537Leu) single nucleotide variant not specified [RCV004646769] Chr15:30943012 [GRCh38]
Chr15:31235215 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1096C>G (p.Pro366Ala) single nucleotide variant Inborn genetic diseases [RCV004620712] Chr15:30905759 [GRCh38]
Chr15:31197962 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2917C>T (p.Leu973=) single nucleotide variant Inborn genetic diseases [RCV004620706] Chr15:30937119 [GRCh38]
Chr15:31229322 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.2687A>G (p.Glu896Gly) single nucleotide variant Inborn genetic diseases [RCV004620704] Chr15:30929297 [GRCh38]
Chr15:31221500 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2048A>G (p.Tyr683Cys) single nucleotide variant Inborn genetic diseases [RCV004620711] Chr15:30920649 [GRCh38]
Chr15:31212852 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1689C>T (p.Ala563=) single nucleotide variant not provided [RCV004810363] Chr15:30913969 [GRCh38]
Chr15:31206172 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.1552G>C (p.Gly518Arg) single nucleotide variant not provided [RCV004727243] Chr15:30910790 [GRCh38]
Chr15:31202993 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.929C>G (p.Ser310Ter) single nucleotide variant FAN1-related disorder [RCV004751132] Chr15:30905592 [GRCh38]
Chr15:31197795 [GRCh37]
Chr15:15q13.3
likely pathogenic
NM_014967.5(FAN1):c.2059G>A (p.Val687Ile) single nucleotide variant FAN1-related disorder [RCV004751178] Chr15:30922241 [GRCh38]
Chr15:31214444 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.1659G>A (p.Ser553=) single nucleotide variant FAN1-related disorder [RCV004752322] Chr15:30913939 [GRCh38]
Chr15:31206142 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.2802C>A (p.Cys934Ter) single nucleotide variant FAN1-related disorder [RCV004732206] Chr15:30930557 [GRCh38]
Chr15:31222760 [GRCh37]
Chr15:15q13.3
likely pathogenic
NM_014967.5(FAN1):c.977C>G (p.Ser326Cys) single nucleotide variant FAN1-related disorder [RCV004730584] Chr15:30905640 [GRCh38]
Chr15:31197843 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.563T>A (p.Val188Asp) single nucleotide variant FAN1-related disorder [RCV004731824] Chr15:30905226 [GRCh38]
Chr15:31197429 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.898C>T (p.His300Tyr) single nucleotide variant FAN1-related disorder [RCV004751088] Chr15:30905561 [GRCh38]
Chr15:31197764 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2864G>A (p.Arg955Gln) single nucleotide variant FAN1-related disorder [RCV004752255] Chr15:30930619 [GRCh38]
Chr15:31222822 [GRCh37]
Chr15:15q13.3
uncertain significance
NM_014967.5(FAN1):c.2685G>A (p.Glu895=) single nucleotide variant FAN1-related disorder [RCV004752267] Chr15:30929295 [GRCh38]
Chr15:31221498 [GRCh37]
Chr15:15q13.3
likely benign
NM_014967.5(FAN1):c.433del (p.Arg145fs) deletion FAN1-related disorder [RCV004751035] Chr15:30905096 [GRCh38]
Chr15:31197299 [GRCh37]
Chr15:15q13.3
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2944
Count of miRNA genes:989
Interacting mature miRNAs:1203
Transcripts:ENST00000362065, ENST00000561594, ENST00000561607, ENST00000562881, ENST00000562892, ENST00000565280, ENST00000565466, ENST00000568145
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
597537789GWAS1633863_Hbody height QTL GWAS1633863 (human)8e-08body height (VT:0001253)body height (CMO:0000106)153094186130941862Human
597211451GWAS1307525_Hupper aerodigestive tract neoplasm QTL GWAS1307525 (human)0.000003upper aerodigestive tract neoplasm153090579230905793Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
597371503GWAS1467577_Htriglyceride measurement QTL GWAS1467577 (human)0.000006triglyceride measurementblood triglyceride level (CMO:0000118)153092373230923733Human
597048369GWAS1144443_HHuntington disease, age at onset QTL GWAS1144443 (human)2e-20Huntington disease, age at onset153091075830910759Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human

Markers in Region
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-11934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371531,203,683 - 31,203,784UniSTSGRCh37
Build 361528,990,975 - 28,991,076RGDNCBI36
Celera158,929,218 - 8,929,319RGD
Cytogenetic Map15q13.2-q13.3UniSTS
HuRef158,380,710 - 8,380,811UniSTS
GeneMap99-GB4 RH Map1565.32UniSTS
Whitehead-RH Map1544.7UniSTS
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4974 1726 2351 6 624 1950 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001146096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005254235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054330006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054331743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP310263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647391 (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
  CR936727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA841207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM560957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000362065   ⟹   ENSP00000354497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,915 - 30,943,108 (+)Ensembl
Ensembl Acc Id: ENST00000561594   ⟹   ENSP00000455983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,852 - 30,911,788 (+)Ensembl
Ensembl Acc Id: ENST00000561607   ⟹   ENSP00000454223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,892 - 30,911,640 (+)Ensembl
Ensembl Acc Id: ENST00000562881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,924,484 - 30,943,082 (+)Ensembl
Ensembl Acc Id: ENST00000562892   ⟹   ENSP00000457680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,904,229 - 30,910,965 (+)Ensembl
Ensembl Acc Id: ENST00000565280   ⟹   ENSP00000455573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,912 - 30,943,108 (+)Ensembl
Ensembl Acc Id: ENST00000565466   ⟹   ENSP00000454544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,893 - 30,911,271 (+)Ensembl
Ensembl Acc Id: ENST00000568145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,864 - 30,927,152 (+)Ensembl
Ensembl Acc Id: ENST00000602886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,987 - 30,928,383 (+)Ensembl
Ensembl Acc Id: ENST00000654013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,901 - 30,919,368 (+)Ensembl
Ensembl Acc Id: ENST00000654056   ⟹   ENSP00000499726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,864 - 30,943,009 (+)Ensembl
Ensembl Acc Id: ENST00000655421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,893 - 30,943,056 (+)Ensembl
Ensembl Acc Id: ENST00000656109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,912 - 30,923,827 (+)Ensembl
Ensembl Acc Id: ENST00000656307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,912 - 30,943,056 (+)Ensembl
Ensembl Acc Id: ENST00000656435   ⟹   ENSP00000499534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,864 - 30,943,085 (+)Ensembl
Ensembl Acc Id: ENST00000657391   ⟹   ENSP00000499703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,864 - 30,942,767 (+)Ensembl
Ensembl Acc Id: ENST00000658773   ⟹   ENSP00000499742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,864 - 30,911,212 (+)Ensembl
Ensembl Acc Id: ENST00000661974   ⟹   ENSP00000499390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,905,170 - 30,943,079 (+)Ensembl
Ensembl Acc Id: ENST00000662114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,921 - 30,919,316 (+)Ensembl
Ensembl Acc Id: ENST00000664070   ⟹   ENSP00000499478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,897 - 30,942,648 (+)Ensembl
Ensembl Acc Id: ENST00000664837   ⟹   ENSP00000499780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,904 - 30,943,084 (+)Ensembl
Ensembl Acc Id: ENST00000665705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,925 - 30,916,132 (+)Ensembl
Ensembl Acc Id: ENST00000665894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,904 - 30,919,290 (+)Ensembl
Ensembl Acc Id: ENST00000666143   ⟹   ENSP00000499576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,928 - 30,910,999 (+)Ensembl
Ensembl Acc Id: ENST00000666852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,912 - 30,923,848 (+)Ensembl
Ensembl Acc Id: ENST00000667837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,890,559 - 30,943,050 (+)Ensembl
Ensembl Acc Id: ENST00000670074   ⟹   ENSP00000499252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,904 - 30,943,061 (+)Ensembl
Ensembl Acc Id: ENST00000670849   ⟹   ENSP00000499638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1530,903,886 - 30,942,931 (+)Ensembl
RefSeq Acc Id: NM_001146094   ⟹   NP_001139566
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,903,915 - 30,911,776 (+)NCBI
GRCh371531,191,703 - 31,235,311 (+)NCBI
Celera158,921,590 - 8,960,771 (+)RGD
HuRef158,373,082 - 8,412,209 (+)RGD
CHM1_11531,186,899 - 31,194,814 (+)NCBI
T2T-CHM13v2.01528,697,897 - 28,705,747 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146095   ⟹   NP_001139567
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,903,852 - 30,911,788 (+)NCBI
GRCh371531,191,703 - 31,235,311 (+)NCBI
Celera158,921,590 - 8,960,771 (+)RGD
HuRef158,373,082 - 8,412,209 (+)RGD
CHM1_11531,186,878 - 31,194,814 (+)NCBI
T2T-CHM13v2.01528,697,834 - 28,705,759 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001146096   ⟹   NP_001139568
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,903,915 - 30,911,776 (+)NCBI
GRCh371531,191,703 - 31,235,311 (+)NCBI
Celera158,921,590 - 8,960,771 (+)RGD
HuRef158,373,082 - 8,412,209 (+)RGD
CHM1_11531,186,899 - 31,194,814 (+)NCBI
T2T-CHM13v2.01528,697,897 - 28,705,747 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014967   ⟹   NP_055782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,903,915 - 30,943,108 (+)NCBI
GRCh371531,191,703 - 31,235,311 (+)NCBI
Build 361528,983,421 - 29,022,600 (+)NCBI Archive
Celera158,921,590 - 8,960,771 (+)RGD
HuRef158,373,082 - 8,412,209 (+)RGD
CHM1_11531,186,899 - 31,226,131 (+)NCBI
T2T-CHM13v2.01528,697,897 - 28,737,186 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521370   ⟹   XP_011519672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,903,915 - 30,943,108 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521372   ⟹   XP_011519674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,904,512 - 30,918,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022013   ⟹   XP_016877502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,908,169 - 30,943,108 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449874   ⟹   XP_024305642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,905,809 - 30,943,108 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432250   ⟹   XP_047288206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,904,512 - 30,928,407 (+)NCBI
RefSeq Acc Id: XM_054377524   ⟹   XP_054233499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,698,494 - 28,722,382 (+)NCBI
RefSeq Acc Id: XM_054377525   ⟹   XP_054233500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,697,897 - 28,737,186 (+)NCBI
RefSeq Acc Id: XM_054377526   ⟹   XP_054233501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,699,791 - 28,737,186 (+)NCBI
RefSeq Acc Id: XM_054377527   ⟹   XP_054233502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,698,494 - 28,712,104 (+)NCBI
RefSeq Acc Id: XM_054377528   ⟹   XP_054233503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01528,702,140 - 28,737,186 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001139566 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139567 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139568 (Get FASTA)   NCBI Sequence Viewer  
  NP_055782 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519672 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519674 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877502 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305642 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185977 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185978 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185979 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185980 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185981 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187714 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187715 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187716 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187717 (Get FASTA)   NCBI Sequence Viewer  
  XP_054187718 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233499 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233500 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233501 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233502 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233503 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH47882 (Get FASTA)   NCBI Sequence Viewer  
  ADK11100 (Get FASTA)   NCBI Sequence Viewer  
  AHW56612 (Get FASTA)   NCBI Sequence Viewer  
  AHW56613 (Get FASTA)   NCBI Sequence Viewer  
  AHW56685 (Get FASTA)   NCBI Sequence Viewer  
  BAA76862 (Get FASTA)   NCBI Sequence Viewer  
  BAF83676 (Get FASTA)   NCBI Sequence Viewer  
  EAW61257 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000354497
  ENSP00000354497.4
  ENSP00000454223
  ENSP00000454223.1
  ENSP00000454544
  ENSP00000454544.1
  ENSP00000455573.1
  ENSP00000455983
  ENSP00000455983.1
  ENSP00000457680.2
  ENSP00000484956.1
  ENSP00000499252.1
  ENSP00000499390.1
  ENSP00000499478.1
  ENSP00000499534.1
  ENSP00000499576.1
  ENSP00000499638.1
  ENSP00000499703.1
  ENSP00000499726.1
  ENSP00000499742.1
  ENSP00000499780
  ENSP00000499780.1
GenBank Protein Q9Y2M0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001139567   ⟸   NM_001146095
- Peptide Label: isoform b
- UniProtKB: X5D9F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055782   ⟸   NM_014967
- Peptide Label: isoform a
- UniProtKB: Q9Y2M0 (UniProtKB/Swiss-Prot),   A8K4M2 (UniProtKB/Swiss-Prot),   Q86WU8 (UniProtKB/Swiss-Prot),   D9MXF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139566   ⟸   NM_001146094
- Peptide Label: isoform b
- UniProtKB: X5D9F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139568   ⟸   NM_001146096
- Peptide Label: isoform b
- UniProtKB: X5D9F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519674   ⟸   XM_011521372
- Peptide Label: isoform X4
- UniProtKB: X5D9F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519672   ⟸   XM_011521370
- Peptide Label: isoform X2
- UniProtKB: A0A590UKC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877502   ⟸   XM_017022013
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024305642   ⟸   XM_024449874
- Peptide Label: isoform X3
- UniProtKB: A0A590UKC0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000499390   ⟸   ENST00000661974
Ensembl Acc Id: ENSP00000499780   ⟸   ENST00000664837
Ensembl Acc Id: ENSP00000499478   ⟸   ENST00000664070
Ensembl Acc Id: ENSP00000354497   ⟸   ENST00000362065
Ensembl Acc Id: ENSP00000499576   ⟸   ENST00000666143
Ensembl Acc Id: ENSP00000499726   ⟸   ENST00000654056
Ensembl Acc Id: ENSP00000454223   ⟸   ENST00000561607
Ensembl Acc Id: ENSP00000455983   ⟸   ENST00000561594
Ensembl Acc Id: ENSP00000457680   ⟸   ENST00000562892
Ensembl Acc Id: ENSP00000499534   ⟸   ENST00000656435
Ensembl Acc Id: ENSP00000499703   ⟸   ENST00000657391
Ensembl Acc Id: ENSP00000455573   ⟸   ENST00000565280
Ensembl Acc Id: ENSP00000454544   ⟸   ENST00000565466
Ensembl Acc Id: ENSP00000499742   ⟸   ENST00000658773
Ensembl Acc Id: ENSP00000499638   ⟸   ENST00000670849
Ensembl Acc Id: ENSP00000499252   ⟸   ENST00000670074
RefSeq Acc Id: XP_047288206   ⟸   XM_047432250
- Peptide Label: isoform X1
- UniProtKB: D9MXF4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233500   ⟸   XM_054377525
- Peptide Label: isoform X2
- UniProtKB: A0A590UKC0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233499   ⟸   XM_054377524
- Peptide Label: isoform X1
- UniProtKB: D9MXF4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233502   ⟸   XM_054377527
- Peptide Label: isoform X4
- UniProtKB: X5D9F0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233501   ⟸   XM_054377526
- Peptide Label: isoform X3
- UniProtKB: A0A590UKC0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233503   ⟸   XM_054377528
- Peptide Label: isoform X5
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2M0-F1-model_v2 AlphaFold Q9Y2M0 1-1017 view protein structure

Promoters
RGD ID:6792506
Promoter ID:HG_KWN:20867
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000362065,   NM_001146094,   NM_001146095,   NM_001146096,   UC001ZFE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361528,983,091 - 28,983,591 (+)MPROMDB
RGD ID:7228913
Promoter ID:EPDNEW_H20202
Type:single initiation site
Name:FAN1_3
Description:FANCD2 and FANCI associated nuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20201  EPDNEW_H20203  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,899,646 - 30,899,706EPDNEW
RGD ID:7228915
Promoter ID:EPDNEW_H20203
Type:initiation region
Name:FAN1_1
Description:FANCD2 and FANCI associated nuclease 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20201  EPDNEW_H20202  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381530,903,915 - 30,903,975EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29170 AgrOrtholog
COSMIC FAN1 COSMIC
Ensembl Genes ENSG00000198690 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276787 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000362065 ENTREZGENE
  ENST00000362065.9 UniProtKB/Swiss-Prot
  ENST00000561594 ENTREZGENE
  ENST00000561594.5 UniProtKB/Swiss-Prot
  ENST00000561607 ENTREZGENE
  ENST00000561607.6 UniProtKB/Swiss-Prot
  ENST00000562892.2 UniProtKB/TrEMBL
  ENST00000565280.5 UniProtKB/TrEMBL
  ENST00000565466 ENTREZGENE
  ENST00000565466.5 UniProtKB/Swiss-Prot
  ENST00000602886 ENTREZGENE
  ENST00000621063.1 UniProtKB/Swiss-Prot
  ENST00000654056.1 UniProtKB/TrEMBL
  ENST00000656435.1 UniProtKB/Swiss-Prot
  ENST00000657391.1 UniProtKB/Swiss-Prot
  ENST00000658773.1 UniProtKB/Swiss-Prot
  ENST00000661974.1 UniProtKB/TrEMBL
  ENST00000664070.1 UniProtKB/TrEMBL
  ENST00000664837 ENTREZGENE
  ENST00000664837.1 UniProtKB/TrEMBL
  ENST00000666143.1 UniProtKB/TrEMBL
  ENST00000670074.1 UniProtKB/TrEMBL
  ENST00000670849.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.1350.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198690 GTEx
  ENSG00000276787 GTEx
HGNC ID HGNC:29170 ENTREZGENE
Human Proteome Map FAN1 Human Proteome Map
InterPro Fan1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAN1-like_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAN1-like_TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAN1-like_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fan1_SAP_met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  tRNA_endonuc-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VRR_NUC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_Rad18_put UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22909 UniProtKB/Swiss-Prot
NCBI Gene 22909 ENTREZGENE
OMIM 613534 OMIM
PANTHER FANCONI-ASSOCIATED NUCLEASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15749 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FAN1_HTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fan1_SAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAN1_TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VRR_NUC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165478601 PharmGKB
PROSITE ZF_UBZ4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART VRR_NUC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_Rad18 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJ38_HUMAN UniProtKB/TrEMBL
  A0A590UJF5_HUMAN UniProtKB/TrEMBL
  A0A590UJL5_HUMAN UniProtKB/TrEMBL
  A0A590UK78_HUMAN UniProtKB/TrEMBL
  A0A590UKC0 ENTREZGENE, UniProtKB/TrEMBL
  A8K4M2 ENTREZGENE
  D9MXF4 ENTREZGENE, UniProtKB/TrEMBL
  FAN1_HUMAN UniProtKB/Swiss-Prot
  H3BQ24_HUMAN UniProtKB/TrEMBL
  H3BUK3_HUMAN UniProtKB/TrEMBL
  Q86WU8 ENTREZGENE
  Q9Y2M0 ENTREZGENE
  X5D7V8_HUMAN UniProtKB/TrEMBL
  X5D9F0 ENTREZGENE, UniProtKB/TrEMBL
  X5DRB9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K4M2 UniProtKB/Swiss-Prot
  Q86WU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-27 FAN1  FANCD2 and FANCI associated nuclease 1  FAN1  FANCD2/FANCI-associated nuclease 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 FAN1  FANCD2/FANCI-associated nuclease 1  MTMR15  myotubularin related protein 15  Symbol and/or name change 5135510 APPROVED