TRAF3IP1 (TRAF3 interacting protein 1) - Rat Genome Database

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Gene: TRAF3IP1 (TRAF3 interacting protein 1) Homo sapiens
Analyze
Symbol: TRAF3IP1
Name: TRAF3 interacting protein 1
RGD ID: 1319493
HGNC Page HGNC:17861
Description: Predicted to enable microtubule binding activity. Involved in several processes, including negative regulation of defense response to virus; negative regulation of macromolecule metabolic process; and regulation of microtubule cytoskeleton organization. Located in several cellular components, including ciliary base; ciliary tip; and nuclear lumen. Part of intraciliary transport particle B. Implicated in Senior-Loken syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CFAP116; DKFZp434F124; FAP116; IFT54; interleukin 13 receptor alpha 1-binding protein-1; interleukin-13 receptor alpha 1-binding protein 1; intraflagellar transport protein 54 homolog; microtubule interacting protein that associates with TRAF3; microtubule-interacting protein associated with TRAF3; microtubule-interacting protein that associates with TRAF3; MIP-T3; MIPT3; SLSN9; TNF receptor-associated factor 3 interacting protein 1; TRAF3-interacting protein 1
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
GRCh382238,320,518 - 238,400,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,320,441 - 238,400,897 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,229,159 - 239,309,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,893,821 - 238,972,536 (+)NCBINCBI36Build 36hg18NCBI36
Build 342239,011,081 - 239,089,796NCBI
Celera2232,941,689 - 233,022,043 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2231,020,156 - 231,100,657 (+)NCBIHuRef
CHM1_12239,234,988 - 239,315,765 (+)NCBICHM1_1
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10791955   PMID:12477932   PMID:12812986   PMID:12935900   PMID:17043677   PMID:17643375   PMID:19251251   PMID:19898482   PMID:20360068   PMID:20379614   PMID:20391533   PMID:21244100  
PMID:21510943   PMID:21832049   PMID:21835309   PMID:21873635   PMID:22079989   PMID:26186194   PMID:26389662   PMID:26487268   PMID:26496610   PMID:26638075   PMID:26980730   PMID:27173435  
PMID:28065597   PMID:28154159   PMID:28514442   PMID:29615496   PMID:30021884   PMID:31413325   PMID:31754404   PMID:32296183   PMID:33961781   PMID:34079125   PMID:35271311   PMID:35914814  
PMID:35944360   PMID:37506885   PMID:38551798  


Genomics

Comparative Map Data
TRAF3IP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,320,518 - 238,400,900 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,320,441 - 238,400,897 (+)EnsemblGRCh38hg38GRCh38
GRCh372239,229,159 - 239,309,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362238,893,821 - 238,972,536 (+)NCBINCBI36Build 36hg18NCBI36
Build 342239,011,081 - 239,089,796NCBI
Celera2232,941,689 - 233,022,043 (+)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2231,020,156 - 231,100,657 (+)NCBIHuRef
CHM1_12239,234,988 - 239,315,765 (+)NCBICHM1_1
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBIT2T-CHM13v2.0
Traf3ip1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39191,422,311 - 91,457,029 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl191,422,369 - 91,457,029 (+)EnsemblGRCm39 Ensembl
GRCm38191,494,590 - 91,529,307 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl191,494,647 - 91,529,307 (+)EnsemblGRCm38mm10GRCm38
MGSCv37193,391,245 - 93,425,884 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36193,325,083 - 93,358,670 (+)NCBIMGSCv36mm8
Celera194,431,301 - 94,465,946 (+)NCBICelera
Cytogenetic Map1DNCBI
cM Map146.16NCBI
Traf3ip1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8999,521,176 - 99,557,966 (+)NCBIGRCr8
mRatBN7.2992,073,622 - 92,110,427 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl992,073,640 - 92,108,977 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9100,500,393 - 100,535,733 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09105,636,149 - 105,671,490 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09103,999,893 - 104,035,307 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0998,621,499 - 98,658,223 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl998,621,506 - 98,656,901 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0998,297,553 - 98,334,249 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4990,711,965 - 90,747,306 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1990,916,733 - 90,952,074 (+)NCBI
Celera989,614,682 - 89,650,077 (+)NCBICelera
Cytogenetic Map9q36NCBI
Traf3ip1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555422,265,901 - 2,301,215 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555422,264,472 - 2,301,083 (-)NCBIChiLan1.0ChiLan1.0
TRAF3IP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213140,959,711 - 141,041,636 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B140,974,690 - 141,056,604 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B125,558,537 - 125,637,733 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B244,404,777 - 244,481,785 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B244,405,992 - 244,481,785 (+)Ensemblpanpan1.1panPan2
TRAF3IP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12548,782,448 - 48,836,993 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2548,782,463 - 48,834,374 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2549,273,550 - 49,330,836 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02549,163,880 - 49,221,292 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2549,163,655 - 49,222,444 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12549,038,924 - 49,096,303 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02548,827,403 - 48,885,058 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02549,059,869 - 49,117,192 (+)NCBIUU_Cfam_GSD_1.0
Traf3ip1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303190,765,080 - 190,824,082 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936525115,479 - 174,694 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936525115,614 - 174,641 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRAF3IP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15137,863,609 - 137,912,477 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115137,863,612 - 137,912,325 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215152,435,379 - 152,441,803 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRAF3IP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110124,348,763 - 124,428,522 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10124,348,916 - 124,429,716 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604074,995,510 - 75,072,036 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Traf3ip1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248473,424,365 - 3,472,075 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248473,424,388 - 3,469,708 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRAF3IP1
564 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015650.4(TRAF3IP1):c.426G>A (p.Leu142=) single nucleotide variant not provided [RCV002857848] Chr2:238328757 [GRCh38]
Chr2:239237398 [GRCh37]
Chr2:2q37.3		 likely benign
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.885_887delinsTAC (p.Lys295_Asn296delinsAsnThr) indel not provided [RCV000723029] Chr2:238329312..238329314 [GRCh38]
Chr2:239237953..239237955 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.169G>A (p.Glu57Lys) single nucleotide variant Short-rib thoracic dysplasia 6 with or without polydactyly [RCV000516088] Chr2:238325351 [GRCh38]
Chr2:239233992 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_015650.4(TRAF3IP1):c.988-1G>C single nucleotide variant Short-rib thoracic dysplasia 6 with or without polydactyly [RCV000515883]|TRAF3IP1-related disorder [RCV003409730]|not provided [RCV001857884] Chr2:238333959 [GRCh38]
Chr2:239242600 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234225537-241565907)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052975]|See cases [RCV000052975] Chr2:234225537..241565907 [GRCh38]
Chr2:235134181..242505322 [GRCh37]
Chr2:234798920..242153995 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237813997-240410487)x3 copy number gain See cases [RCV000052978] Chr2:237813997..240410487 [GRCh38]
Chr2:238722640..241349904 [GRCh37]
Chr2:238387379..240998577 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3 copy number gain See cases [RCV000134169] Chr2:228723579..241404867 [GRCh38]
Chr2:229588295..242344282 [GRCh37]
Chr2:229296539..241992955 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.1-37.3(chr2:234058757-239443690)x1 copy number loss See cases [RCV000137411] Chr2:234058757..239443690 [GRCh38]
Chr2:234967401..240365384 [GRCh37]
Chr2:234632140..240030321 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235757098-239443690)x1 copy number loss See cases [RCV000137830] Chr2:235757098..239443690 [GRCh38]
Chr2:236665742..240365384 [GRCh37]
Chr2:236330481..240030321 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3		 pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1575+6T>G single nucleotide variant Senior-Loken syndrome 9 [RCV000240622] Chr2:238352956 [GRCh38]
Chr2:239261597 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.374T>C (p.Val125Ala) single nucleotide variant Senior-Loken syndrome 9 [RCV000240625] Chr2:238328705 [GRCh38]
Chr2:239237346 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.373G>A (p.Val125Met) single nucleotide variant Senior-Loken syndrome 9 [RCV000240633] Chr2:238328704 [GRCh38]
Chr2:239237345 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.463C>T (p.Arg155Ter) single nucleotide variant Senior-Loken syndrome 9 [RCV000240637]|not provided [RCV001854938] Chr2:238328794 [GRCh38]
Chr2:239237435 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1559T>G (p.Met520Arg) single nucleotide variant Senior-Loken syndrome 9 [RCV000240643]|not provided [RCV001857845] Chr2:238352934 [GRCh38]
Chr2:239261575 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.51T>G (p.Ile17Met) single nucleotide variant Senior-Loken syndrome 9 [RCV000240646] Chr2:238320713 [GRCh38]
Chr2:239229354 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1368-1del deletion Jeune thoracic dystrophy [RCV000515940]|not provided [RCV003727754] Chr2:238349324 [GRCh38]
Chr2:239257965 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic
NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys) single nucleotide variant Jeune thoracic dystrophy [RCV000516077]|not provided [RCV001351827] Chr2:238348839 [GRCh38]
Chr2:239257480 [GRCh37]
Chr2:2q37.3		 pathogenic|likely pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1352T>A (p.Leu451His) single nucleotide variant Ellis-van Creveld syndrome [RCV000754966] Chr2:238348833 [GRCh38]
Chr2:239257474 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1085C>G (p.Ser362Ter) single nucleotide variant not provided [RCV000722227] Chr2:238338383 [GRCh38]
Chr2:239247024 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.124-5T>G single nucleotide variant not provided [RCV000521432] Chr2:238325301 [GRCh38]
Chr2:239233942 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000723071] Chr2:238320665 [GRCh38]
Chr2:239229306 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1227G>C (p.Glu409Asp) single nucleotide variant Inborn genetic diseases [RCV003255316] Chr2:238344564 [GRCh38]
Chr2:239253205 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:237480048-241611309)x1 copy number loss not provided [RCV000682151] Chr2:237480048..241611309 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239163744-240053966)x3 copy number gain not provided [RCV000741015] Chr2:239163744..240053966 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1910+7G>T single nucleotide variant not provided [RCV000918576] Chr2:238397686 [GRCh38]
Chr2:239306327 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.702_703del (p.Gly235fs) microsatellite not provided [RCV001060163] Chr2:238329127..238329128 [GRCh38]
Chr2:239237768..239237769 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1159G>T (p.Gly387Ter) single nucleotide variant not provided [RCV001057038] Chr2:238338457 [GRCh38]
Chr2:239247098 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1219C>T (p.Arg407Trp) single nucleotide variant not provided [RCV001057091] Chr2:238344556 [GRCh38]
Chr2:239253197 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1049A>G (p.Lys350Arg) single nucleotide variant not provided [RCV001060373] Chr2:238334021 [GRCh38]
Chr2:239242662 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1437G>A (p.Ala479=) single nucleotide variant not provided [RCV000924005] Chr2:238349394 [GRCh38]
Chr2:239258035 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.488A>G (p.Lys163Arg) single nucleotide variant not provided [RCV000901247] Chr2:238328819 [GRCh38]
Chr2:239237460 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.396G>C (p.Glu132Asp) single nucleotide variant not provided [RCV000966148] Chr2:238328727 [GRCh38]
Chr2:239237368 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.103C>T (p.Leu35=) single nucleotide variant not provided [RCV000926070] Chr2:238320765 [GRCh38]
Chr2:239229406 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.510C>T (p.Asp170=) single nucleotide variant not provided [RCV000892815] Chr2:238328937 [GRCh38]
Chr2:239237578 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1368-6G>T single nucleotide variant not provided [RCV000967989] Chr2:238349319 [GRCh38]
Chr2:239257960 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1254G>A (p.Lys418=) single nucleotide variant not provided [RCV000927402] Chr2:238344591 [GRCh38]
Chr2:239253232 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.234C>T (p.Asp78=) single nucleotide variant not provided [RCV000898751] Chr2:238325850 [GRCh38]
Chr2:239234491 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1417C>T (p.Arg473Trp) single nucleotide variant not provided [RCV001071363] Chr2:238349374 [GRCh38]
Chr2:239258015 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.762G>T (p.Glu254Asp) single nucleotide variant Inborn genetic diseases [RCV002554505]|not provided [RCV001066975] Chr2:238329189 [GRCh38]
Chr2:239237830 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.575G>T (p.Arg192Leu) single nucleotide variant not provided [RCV001038300] Chr2:238329002 [GRCh38]
Chr2:239237643 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1220G>A (p.Arg407Gln) single nucleotide variant Inborn genetic diseases [RCV002553949]|not provided [RCV001063882] Chr2:238344557 [GRCh38]
Chr2:239253198 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1778T>C (p.Leu593Pro) single nucleotide variant not provided [RCV001069643] Chr2:238397547 [GRCh38]
Chr2:239306188 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.806G>A (p.Arg269His) single nucleotide variant Inborn genetic diseases [RCV002552647]|not provided [RCV001048692] Chr2:238329233 [GRCh38]
Chr2:239237874 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_015650.4(TRAF3IP1):c.193-7G>A single nucleotide variant not provided [RCV000977740] Chr2:238325802 [GRCh38]
Chr2:239234443 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+8del deletion not provided [RCV000924003] Chr2:238397682 [GRCh38]
Chr2:239306323 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1451+5G>A single nucleotide variant not provided [RCV000922947] Chr2:238349413 [GRCh38]
Chr2:239258054 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity
NM_015650.4(TRAF3IP1):c.1358C>T (p.Ser453Phe) single nucleotide variant not provided [RCV000977279] Chr2:238348839 [GRCh38]
Chr2:239257480 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1953G>A (p.Ala651=) single nucleotide variant not provided [RCV000897607] Chr2:238398796 [GRCh38]
Chr2:239307437 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1470C>T (p.Thr490=) single nucleotide variant not provided [RCV000899561] Chr2:238352845 [GRCh38]
Chr2:239261486 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.165C>T (p.Asp55=) single nucleotide variant not provided [RCV000919478]|not specified [RCV003151219] Chr2:238325347 [GRCh38]
Chr2:239233988 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_015650.4(TRAF3IP1):c.1082T>C (p.Ile361Thr) single nucleotide variant not provided [RCV000900990] Chr2:238338380 [GRCh38]
Chr2:239247021 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1849G>C (p.Glu617Gln) single nucleotide variant not provided [RCV001053826] Chr2:238397618 [GRCh38]
Chr2:239306259 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.805C>T (p.Arg269Cys) single nucleotide variant Inborn genetic diseases [RCV002563756]|not provided [RCV001231037] Chr2:238329232 [GRCh38]
Chr2:239237873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.376C>T (p.Arg126Trp) single nucleotide variant Inborn genetic diseases [RCV003284129]|not provided [RCV001248097] Chr2:238328707 [GRCh38]
Chr2:239237348 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236172348-241611309)x1 copy number loss not provided [RCV001007525] Chr2:236172348..241611309 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1624A>G (p.Lys542Glu) single nucleotide variant not provided [RCV001236546] Chr2:238356015 [GRCh38]
Chr2:239264656 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1144A>G (p.Thr382Ala) single nucleotide variant Inborn genetic diseases [RCV004678993]|not provided [RCV001209190] Chr2:238338442 [GRCh38]
Chr2:239247083 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.193G>C (p.Asp65His) single nucleotide variant not provided [RCV001238783] Chr2:238325809 [GRCh38]
Chr2:239234450 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1927G>A (p.Val643Met) single nucleotide variant Inborn genetic diseases [RCV002562591]|not provided [RCV001224176] Chr2:238398770 [GRCh38]
Chr2:239307411 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.88C>T (p.Pro30Ser) single nucleotide variant Senior-Loken syndrome 9 [RCV001526703]|not provided [RCV001223147] Chr2:238320750 [GRCh38]
Chr2:239229391 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1489G>A (p.Glu497Lys) single nucleotide variant not provided [RCV001243520] Chr2:238352864 [GRCh38]
Chr2:239261505 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1090A>G (p.Lys364Glu) single nucleotide variant not provided [RCV001209916] Chr2:238338388 [GRCh38]
Chr2:239247029 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.889A>G (p.Arg297Gly) single nucleotide variant Inborn genetic diseases [RCV003246757]|not provided [RCV001210234] Chr2:238329316 [GRCh38]
Chr2:239237957 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1160-9T>G single nucleotide variant not provided [RCV001247997] Chr2:238344488 [GRCh38]
Chr2:239253129 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.22C>T (p.Arg8Trp) single nucleotide variant not provided [RCV001241019] Chr2:238320684 [GRCh38]
Chr2:239229325 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1039C>T (p.Arg347Trp) single nucleotide variant not provided [RCV001212006] Chr2:238334011 [GRCh38]
Chr2:239242652 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.709A>G (p.Arg237Gly) single nucleotide variant Inborn genetic diseases [RCV003292995] Chr2:238329136 [GRCh38]
Chr2:239237777 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1244C>G (p.Pro415Arg) single nucleotide variant not provided [RCV001212733] Chr2:238344581 [GRCh38]
Chr2:239253222 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1159+76A>G single nucleotide variant not provided [RCV001661253] Chr2:238338533 [GRCh38]
Chr2:239247174 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.192+94T>C single nucleotide variant not provided [RCV001714797] Chr2:238325468 [GRCh38]
Chr2:239234109 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.355-170C>T single nucleotide variant not provided [RCV001656638] Chr2:238328516 [GRCh38]
Chr2:239237157 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1282+163A>T single nucleotide variant not provided [RCV001635581] Chr2:238347638 [GRCh38]
Chr2:239256279 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.124-6T>C single nucleotide variant not provided [RCV000883113] Chr2:238325300 [GRCh38]
Chr2:239233941 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.778G>A (p.Glu260Lys) single nucleotide variant not provided [RCV000888132]|not specified [RCV001729734] Chr2:238329205 [GRCh38]
Chr2:239237846 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_015650.4(TRAF3IP1):c.499-4G>A single nucleotide variant not provided [RCV000909358] Chr2:238328922 [GRCh38]
Chr2:239237563 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+9T>A single nucleotide variant not provided [RCV000926199] Chr2:238397688 [GRCh38]
Chr2:239306329 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.315C>T (p.Asn105=) single nucleotide variant not provided [RCV000910354] Chr2:238325931 [GRCh38]
Chr2:239234572 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1282+8A>T single nucleotide variant Senior-Loken syndrome 9 [RCV002489317]|not provided [RCV000953468] Chr2:238347483 [GRCh38]
Chr2:239256124 [GRCh37]
Chr2:2q37.3		 benign|likely benign
NM_015650.4(TRAF3IP1):c.68_69delinsTA (p.Thr23Ile) indel not provided [RCV001226754] Chr2:238320730..238320731 [GRCh38]
Chr2:239229371..239229372 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1552T>G (p.Ser518Ala) single nucleotide variant not provided [RCV001222966] Chr2:238352927 [GRCh38]
Chr2:239261568 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.838C>T (p.Arg280Trp) single nucleotide variant not provided [RCV001243313] Chr2:238329265 [GRCh38]
Chr2:239237906 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.259C>T (p.Pro87Ser) single nucleotide variant Inborn genetic diseases [RCV004679015]|not provided [RCV001227685] Chr2:238325875 [GRCh38]
Chr2:239234516 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.293G>T (p.Gly98Val) single nucleotide variant not provided [RCV001227366] Chr2:238325909 [GRCh38]
Chr2:239234550 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.908A>G (p.Glu303Gly) single nucleotide variant not provided [RCV001244134] Chr2:238329335 [GRCh38]
Chr2:239237976 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1926C>T (p.Ala642=) single nucleotide variant not provided [RCV000933644] Chr2:238398769 [GRCh38]
Chr2:239307410 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+4G>A single nucleotide variant not provided [RCV000890557] Chr2:238397683 [GRCh38]
Chr2:239306324 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1199A>C (p.Asp400Ala) single nucleotide variant not provided [RCV000890680] Chr2:238344536 [GRCh38]
Chr2:239253177 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1278T>G (p.Asp426Glu) single nucleotide variant not provided [RCV000935072] Chr2:238347471 [GRCh38]
Chr2:239256112 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1159+115G>A single nucleotide variant not provided [RCV001540990] Chr2:238338572 [GRCh38]
Chr2:239247213 [GRCh37]
Chr2:2q37.3		 benign
NC_000002.12:g.238320388C>G single nucleotide variant not provided [RCV001709849] Chr2:238320388 [GRCh38]
Chr2:239229029 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.988-179C>T single nucleotide variant not provided [RCV001594490] Chr2:238333781 [GRCh38]
Chr2:239242422 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.8C>G (p.Ala3Gly) single nucleotide variant not provided [RCV001053160] Chr2:238320670 [GRCh38]
Chr2:239229311 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1 copy number loss not provided [RCV001007520] Chr2:234090049..239494702 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1160-131T>C single nucleotide variant not provided [RCV001620955] Chr2:238344366 [GRCh38]
Chr2:239253007 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.123+218G>A single nucleotide variant not provided [RCV001656159] Chr2:238321003 [GRCh38]
Chr2:239229644 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1063+56_1063+57dup duplication not provided [RCV001608973] Chr2:238334078..238334079 [GRCh38]
Chr2:239242719..239242720 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1911-150A>G single nucleotide variant not provided [RCV001596267] Chr2:238398604 [GRCh38]
Chr2:239307245 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.124-215T>C single nucleotide variant not provided [RCV001649218] Chr2:238325091 [GRCh38]
Chr2:239233732 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1283-195C>T single nucleotide variant not provided [RCV001614293] Chr2:238348569 [GRCh38]
Chr2:239257210 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.800G>A (p.Arg267Gln) single nucleotide variant Inborn genetic diseases [RCV004030462]|not provided [RCV001062593] Chr2:238329227 [GRCh38]
Chr2:239237868 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2044del (p.Val682fs) deletion not provided [RCV001211285] Chr2:238398886 [GRCh38]
Chr2:239307527 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1451+108A>G single nucleotide variant not provided [RCV001693491] Chr2:238349516 [GRCh38]
Chr2:239258157 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.-99del deletion not provided [RCV001691340] Chr2:238320564 [GRCh38]
Chr2:239229205 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1262-330A>G single nucleotide variant not provided [RCV001672332] Chr2:238347125 [GRCh38]
Chr2:239255766 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1261+27C>A single nucleotide variant not provided [RCV001669595] Chr2:238344625 [GRCh38]
Chr2:239253266 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1063+57dup duplication not provided [RCV001681452] Chr2:238334078..238334079 [GRCh38]
Chr2:239242719..239242720 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.193-54A>G single nucleotide variant not provided [RCV001685650] Chr2:238325755 [GRCh38]
Chr2:239234396 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1910+3G>A single nucleotide variant not provided [RCV001236643] Chr2:238397682 [GRCh38]
Chr2:239306323 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.263T>A (p.Leu88Gln) single nucleotide variant not provided [RCV001235947] Chr2:238325879 [GRCh38]
Chr2:239234520 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1860G>A (p.Met620Ile) single nucleotide variant Inborn genetic diseases [RCV002552057]|not provided [RCV003480906] Chr2:238397629 [GRCh38]
Chr2:239306270 [GRCh37]
Chr2:2q37.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015650.4(TRAF3IP1):c.1081_1082del (p.Ile361fs) microsatellite not provided [RCV001219145] Chr2:238338377..238338378 [GRCh38]
Chr2:239247018..239247019 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.667C>T (p.Arg223Trp) single nucleotide variant not provided [RCV001234503] Chr2:238329094 [GRCh38]
Chr2:239237735 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.115A>G (p.Ile39Val) single nucleotide variant Inborn genetic diseases [RCV002554463]|TRAF3IP1-related disorder [RCV003963026]|not provided [RCV001064316] Chr2:238320777 [GRCh38]
Chr2:239229418 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.952G>A (p.Asp318Asn) single nucleotide variant not provided [RCV001233666] Chr2:238332860 [GRCh38]
Chr2:239241501 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1142C>T (p.Thr381Met) single nucleotide variant Inborn genetic diseases [RCV003263866]|not provided [RCV001233670] Chr2:238338440 [GRCh38]
Chr2:239247081 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.12:g.238332824_238332827del deletion not provided [RCV001038301] Chr2:238332822..238332825 [GRCh38]
Chr2:239241463..239241466 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1951G>A (p.Ala651Thr) single nucleotide variant Inborn genetic diseases [RCV003163522]|not provided [RCV001202430] Chr2:238398794 [GRCh38]
Chr2:239307435 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1247C>T (p.Thr416Ile) single nucleotide variant Inborn genetic diseases [RCV003373076]|not provided [RCV001236524] Chr2:238344584 [GRCh38]
Chr2:239253225 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.362G>C (p.Ser121Thr) single nucleotide variant not provided [RCV001231835] Chr2:238328693 [GRCh38]
Chr2:239237334 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.887A>C (p.Asn296Thr) single nucleotide variant Inborn genetic diseases [RCV002551441]|not provided [RCV001039162] Chr2:238329314 [GRCh38]
Chr2:239237955 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.814G>A (p.Asp272Asn) single nucleotide variant not provided [RCV001232079] Chr2:238329241 [GRCh38]
Chr2:239237882 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1689+3A>G single nucleotide variant not provided [RCV001213853] Chr2:238356083 [GRCh38]
Chr2:239264724 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.875A>T (p.Asp292Val) single nucleotide variant not provided [RCV001040776] Chr2:238329302 [GRCh38]
Chr2:239237943 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.685G>A (p.Glu229Lys) single nucleotide variant Inborn genetic diseases [RCV004679023]|Senior-Loken syndrome 9 [RCV003142197]|not provided [RCV001233007] Chr2:238329112 [GRCh38]
Chr2:239237753 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1156A>G (p.Ile386Val) single nucleotide variant Inborn genetic diseases [RCV002568642]|not provided [RCV001246008] Chr2:238338454 [GRCh38]
Chr2:239247095 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1711G>A (p.Ala571Thr) single nucleotide variant not provided [RCV001066720] Chr2:238397480 [GRCh38]
Chr2:239306121 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.638G>C (p.Arg213Thr) single nucleotide variant Inborn genetic diseases [RCV003284062]|not provided [RCV001214252] Chr2:238329065 [GRCh38]
Chr2:239237706 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.988-143T>C single nucleotide variant not provided [RCV001641925] Chr2:238333817 [GRCh38]
Chr2:239242458 [GRCh37]
Chr2:2q37.3		 benign
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1952C>T (p.Ala651Val) single nucleotide variant not provided [RCV001348089] Chr2:238398795 [GRCh38]
Chr2:239307436 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1030A>G (p.Thr344Ala) single nucleotide variant not provided [RCV001964460] Chr2:238334002 [GRCh38]
Chr2:239242643 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.56G>T (p.Arg19Met) single nucleotide variant not provided [RCV001907641] Chr2:238320718 [GRCh38]
Chr2:239229359 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1205A>G (p.Asn402Ser) single nucleotide variant not provided [RCV001301053] Chr2:238344542 [GRCh38]
Chr2:239253183 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.346C>T (p.Leu116Phe) single nucleotide variant not provided [RCV001341657] Chr2:238325962 [GRCh38]
Chr2:239234603 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1927G>T (p.Val643Leu) single nucleotide variant not provided [RCV001339161] Chr2:238398770 [GRCh38]
Chr2:239307411 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.192+1G>C single nucleotide variant not provided [RCV001338584] Chr2:238325375 [GRCh38]
Chr2:239234016 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1575+4A>G single nucleotide variant not provided [RCV001305089] Chr2:238352954 [GRCh38]
Chr2:239261595 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1858A>T (p.Met620Leu) single nucleotide variant not provided [RCV001298773] Chr2:238397627 [GRCh38]
Chr2:239306268 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.733C>T (p.Arg245Cys) single nucleotide variant not provided [RCV001298138] Chr2:238329160 [GRCh38]
Chr2:239237801 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1270A>C (p.Thr424Pro) single nucleotide variant Inborn genetic diseases [RCV004679059]|not provided [RCV001305310] Chr2:238347463 [GRCh38]
Chr2:239256104 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.244A>G (p.Met82Val) single nucleotide variant not provided [RCV001301880] Chr2:238325860 [GRCh38]
Chr2:239234501 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1477A>G (p.Asn493Asp) single nucleotide variant not provided [RCV001338473] Chr2:238352852 [GRCh38]
Chr2:239261493 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1471G>A (p.Val491Ile) single nucleotide variant not provided [RCV001302161] Chr2:238352846 [GRCh38]
Chr2:239261487 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.734G>A (p.Arg245His) single nucleotide variant Inborn genetic diseases [RCV004967970]|not provided [RCV001298861] Chr2:238329161 [GRCh38]
Chr2:239237802 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1208C>T (p.Ser403Leu) single nucleotide variant not provided [RCV001341924] Chr2:238344545 [GRCh38]
Chr2:239253186 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.689G>A (p.Arg230Gln) single nucleotide variant not provided [RCV001325773] Chr2:238329116 [GRCh38]
Chr2:239237757 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1640C>T (p.Thr547Met) single nucleotide variant Inborn genetic diseases [RCV004035929]|not provided [RCV001340259] Chr2:238356031 [GRCh38]
Chr2:239264672 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1408C>T (p.Arg470Trp) single nucleotide variant Senior-Loken syndrome 9 [RCV003333150]|not provided [RCV001312396] Chr2:238349365 [GRCh38]
Chr2:239258006 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1538C>T (p.Ala513Val) single nucleotide variant Inborn genetic diseases [RCV002548466]|not provided [RCV001349912] Chr2:238352913 [GRCh38]
Chr2:239261554 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.113TCA[1] (p.Ile39del) microsatellite not provided [RCV001315225] Chr2:238320773..238320775 [GRCh38]
Chr2:239229414..239229416 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2066del (p.Thr688_Ser689insTer) deletion not provided [RCV001300444] Chr2:238398909 [GRCh38]
Chr2:239307550 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1064-10T>A single nucleotide variant not provided [RCV001300556] Chr2:238338352 [GRCh38]
Chr2:239246993 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1159+4A>T single nucleotide variant not provided [RCV001315701] Chr2:238338461 [GRCh38]
Chr2:239247102 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1217T>G (p.Leu406Arg) single nucleotide variant not provided [RCV001361247] Chr2:238344554 [GRCh38]
Chr2:239253195 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_239246983)_(239247118_?)del deletion not provided [RCV001372440] Chr2:239246983..239247118 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.34G>T (p.Ala12Ser) single nucleotide variant not provided [RCV001316153] Chr2:238320696 [GRCh38]
Chr2:239229337 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.284T>C (p.Ile95Thr) single nucleotide variant not provided [RCV001372678] Chr2:238325900 [GRCh38]
Chr2:239234541 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.358T>G (p.Ser120Ala) single nucleotide variant not provided [RCV001367931] Chr2:238328689 [GRCh38]
Chr2:239237330 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1143G>A (p.Thr381=) single nucleotide variant not provided [RCV001391812] Chr2:238338441 [GRCh38]
Chr2:239247082 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.291G>A (p.Ala97=) single nucleotide variant not provided [RCV001413333] Chr2:238325907 [GRCh38]
Chr2:239234548 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.145A>C (p.Met49Leu) single nucleotide variant not provided [RCV001370158] Chr2:238325327 [GRCh38]
Chr2:239233968 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.807C>T (p.Arg269=) single nucleotide variant not provided [RCV001433453] Chr2:238329234 [GRCh38]
Chr2:239237875 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.286G>A (p.Val96Met) single nucleotide variant not provided [RCV001303237] Chr2:238325902 [GRCh38]
Chr2:239234543 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.326A>C (p.Gln109Pro) single nucleotide variant not provided [RCV001304359] Chr2:238325942 [GRCh38]
Chr2:239234583 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1669T>A (p.Ser557Thr) single nucleotide variant not provided [RCV001372823] Chr2:238356060 [GRCh38]
Chr2:239264701 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.595A>G (p.Lys199Glu) single nucleotide variant not provided [RCV001360687] Chr2:238329022 [GRCh38]
Chr2:239237663 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1693C>T (p.Arg565Ter) single nucleotide variant not provided [RCV001326264] Chr2:238397462 [GRCh38]
Chr2:239306103 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.525G>C (p.Glu175Asp) single nucleotide variant not provided [RCV001344712] Chr2:238328952 [GRCh38]
Chr2:239237593 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.316G>A (p.Glu106Lys) single nucleotide variant not provided [RCV001371197] Chr2:238325932 [GRCh38]
Chr2:239234573 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.697G>A (p.Asp233Asn) single nucleotide variant Inborn genetic diseases [RCV004036905]|not provided [RCV001364220] Chr2:238329124 [GRCh38]
Chr2:239237765 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.533C>T (p.Thr178Ile) single nucleotide variant Inborn genetic diseases [RCV004036437]|not provided [RCV001344787] Chr2:238328960 [GRCh38]
Chr2:239237601 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1911-5C>G single nucleotide variant not provided [RCV001346647] Chr2:238398749 [GRCh38]
Chr2:239307390 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.926del (p.Ser308_Ser309insTer) deletion not provided [RCV001303501] Chr2:238332834 [GRCh38]
Chr2:239241475 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1261+4A>G single nucleotide variant not provided [RCV001303553] Chr2:238344602 [GRCh38]
Chr2:239253243 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1370G>A (p.Arg457Lys) single nucleotide variant not provided [RCV001314715] Chr2:238349327 [GRCh38]
Chr2:239257968 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1378C>T (p.Arg460Trp) single nucleotide variant not provided [RCV001316659] Chr2:238349335 [GRCh38]
Chr2:239257976 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.710G>A (p.Arg237Lys) single nucleotide variant not provided [RCV001323101] Chr2:238329137 [GRCh38]
Chr2:239237778 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1690G>A (p.Glu564Lys) single nucleotide variant Inborn genetic diseases [RCV002545065]|not provided [RCV001313933] Chr2:238397459 [GRCh38]
Chr2:239306100 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.152G>A (p.Gly51Asp) single nucleotide variant Senior-Loken syndrome 9 [RCV001328916] Chr2:238325334 [GRCh38]
Chr2:239233975 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1919A>T (p.Asp640Val) single nucleotide variant not provided [RCV001361677] Chr2:238398762 [GRCh38]
Chr2:239307403 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.574C>T (p.Arg192Cys) single nucleotide variant Inborn genetic diseases [RCV004036421]|not provided [RCV001344247] Chr2:238329001 [GRCh38]
Chr2:239237642 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.251C>T (p.Ser84Leu) single nucleotide variant not provided [RCV001361806] Chr2:238325867 [GRCh38]
Chr2:239234508 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.436T>C (p.Ser146Pro) single nucleotide variant Senior-Loken syndrome 9 [RCV004728672]|not provided [RCV001363465] Chr2:238328767 [GRCh38]
Chr2:239237408 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.521A>G (p.Lys174Arg) single nucleotide variant Inborn genetic diseases [RCV003246959]|not provided [RCV001370074] Chr2:238328948 [GRCh38]
Chr2:239237589 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1043G>A (p.Arg348Gln) single nucleotide variant not provided [RCV001372986] Chr2:238334015 [GRCh38]
Chr2:239242656 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1186A>G (p.Thr396Ala) single nucleotide variant not provided [RCV001314233] Chr2:238344523 [GRCh38]
Chr2:239253164 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.831G>C (p.Arg277Ser) single nucleotide variant not provided [RCV001352589] Chr2:238329258 [GRCh38]
Chr2:239237899 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1790C>T (p.Ala597Val) single nucleotide variant not provided [RCV001373151] Chr2:238397559 [GRCh38]
Chr2:239306200 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2020A>G (p.Asn674Asp) single nucleotide variant not provided [RCV001340403] Chr2:238398863 [GRCh38]
Chr2:239307504 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.811C>T (p.Arg271Trp) single nucleotide variant not provided [RCV001345597] Chr2:238329238 [GRCh38]
Chr2:239237879 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.252G>A (p.Ser84=) single nucleotide variant not provided [RCV001345631] Chr2:238325868 [GRCh38]
Chr2:239234509 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.415C>T (p.Arg139Trp) single nucleotide variant not provided [RCV001364535] Chr2:238328746 [GRCh38]
Chr2:239237387 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1817A>G (p.Tyr606Cys) single nucleotide variant not provided [RCV001366667] Chr2:238397586 [GRCh38]
Chr2:239306227 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1759C>T (p.Arg587Cys) single nucleotide variant not provided [RCV001352481] Chr2:238397528 [GRCh38]
Chr2:239306169 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.916-4A>G single nucleotide variant not provided [RCV001371660] Chr2:238332820 [GRCh38]
Chr2:239241461 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.839G>A (p.Arg280Gln) single nucleotide variant not provided [RCV001372120] Chr2:238329266 [GRCh38]
Chr2:239237907 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1379G>A (p.Arg460Gln) single nucleotide variant not provided [RCV001365673] Chr2:238349336 [GRCh38]
Chr2:239257977 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1869C>A (p.Ser623Arg) single nucleotide variant not provided [RCV001365689] Chr2:238397638 [GRCh38]
Chr2:239306279 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1490del (p.Glu497fs) deletion not provided [RCV001299051] Chr2:238352865 [GRCh38]
Chr2:239261506 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.731A>C (p.Glu244Ala) single nucleotide variant Inborn genetic diseases [RCV004968119]|not provided [RCV001359713] Chr2:238329158 [GRCh38]
Chr2:239237799 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.498+15G>A single nucleotide variant not provided [RCV001486953] Chr2:238328844 [GRCh38]
Chr2:239237485 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1063+16T>C single nucleotide variant not provided [RCV001425084] Chr2:238334051 [GRCh38]
Chr2:239242692 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.885G>A (p.Lys295=) single nucleotide variant not provided [RCV001441277] Chr2:238329312 [GRCh38]
Chr2:239237953 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.123+14A>G single nucleotide variant not provided [RCV001516329] Chr2:238320799 [GRCh38]
Chr2:239229440 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.285C>T (p.Ile95=) single nucleotide variant not provided [RCV001475366] Chr2:238325901 [GRCh38]
Chr2:239234542 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.768G>A (p.Gly256=) single nucleotide variant not provided [RCV001506443] Chr2:238329195 [GRCh38]
Chr2:239237836 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1690-18A>G single nucleotide variant not provided [RCV001516206] Chr2:238397441 [GRCh38]
Chr2:239306082 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1576-4T>C single nucleotide variant not provided [RCV001482612] Chr2:238353169 [GRCh38]
Chr2:239261810 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1911-5C>T single nucleotide variant not provided [RCV001503052] Chr2:238398749 [GRCh38]
Chr2:239307390 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1566A>G (p.Glu522=) single nucleotide variant not provided [RCV001466450] Chr2:238352941 [GRCh38]
Chr2:239261582 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.639A>G (p.Arg213=) single nucleotide variant not provided [RCV001485966] Chr2:238329066 [GRCh38]
Chr2:239237707 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1884C>T (p.His628=) single nucleotide variant not provided [RCV001493299] Chr2:238397653 [GRCh38]
Chr2:239306294 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1542C>T (p.Ala514=) single nucleotide variant not provided [RCV001444710] Chr2:238352917 [GRCh38]
Chr2:239261558 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.888C>T (p.Asn296=) single nucleotide variant not provided [RCV001440542] Chr2:238329315 [GRCh38]
Chr2:239237956 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.729C>T (p.Ser243=) single nucleotide variant not provided [RCV001432080] Chr2:238329156 [GRCh38]
Chr2:239237797 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1599A>G (p.Glu533=) single nucleotide variant not provided [RCV001427703] Chr2:238353196 [GRCh38]
Chr2:239261837 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.498+10A>G single nucleotide variant not provided [RCV001478874] Chr2:238328839 [GRCh38]
Chr2:239237480 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1858A>C (p.Met620Leu) single nucleotide variant not provided [RCV001515641] Chr2:238397627 [GRCh38]
Chr2:239306268 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1707G>A (p.Glu569=) single nucleotide variant not provided [RCV001499716] Chr2:238397476 [GRCh38]
Chr2:239306117 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1110G>A (p.Val370=) single nucleotide variant not provided [RCV001511148] Chr2:238338408 [GRCh38]
Chr2:239247049 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.612C>T (p.Ala204=) single nucleotide variant not provided [RCV001479773] Chr2:238329039 [GRCh38]
Chr2:239237680 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1367+8T>A single nucleotide variant not provided [RCV001511248] Chr2:238348856 [GRCh38]
Chr2:239257497 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.123+154G>A single nucleotide variant not provided [RCV001686585] Chr2:238320939 [GRCh38]
Chr2:239229580 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1612+16G>A single nucleotide variant not provided [RCV001511761] Chr2:238353225 [GRCh38]
Chr2:239261866 [GRCh37]
Chr2:2q37.3		 benign
NC_000002.12:g.238320388C>A single nucleotide variant not provided [RCV001651954] Chr2:238320388 [GRCh38]
Chr2:239229029 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1063+291T>C single nucleotide variant not provided [RCV001617883] Chr2:238334326 [GRCh38]
Chr2:239242967 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1215T>C (p.Ser405=) single nucleotide variant not provided [RCV001512777] Chr2:238344552 [GRCh38]
Chr2:239253193 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.96C>T (p.Phe32=) single nucleotide variant not provided [RCV001498108] Chr2:238320758 [GRCh38]
Chr2:239229399 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1767C>T (p.Ser589=) single nucleotide variant not provided [RCV001478004] Chr2:238397536 [GRCh38]
Chr2:239306177 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.213C>T (p.Ser71=) single nucleotide variant not provided [RCV001488628] Chr2:238325829 [GRCh38]
Chr2:239234470 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+48_1910+135del microsatellite not provided [RCV001501338] Chr2:238397659..238397746 [GRCh38]
Chr2:239306300..239306387 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1575+11C>T single nucleotide variant not provided [RCV001454082] Chr2:238352961 [GRCh38]
Chr2:239261602 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.801A>G (p.Arg267=) single nucleotide variant not provided [RCV001495563] Chr2:238329228 [GRCh38]
Chr2:239237869 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.366C>T (p.Asp122=) single nucleotide variant TRAF3IP1-related disorder [RCV003955987]|not provided [RCV001453148] Chr2:238328697 [GRCh38]
Chr2:239237338 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.193-17C>G single nucleotide variant not provided [RCV001482210] Chr2:238325792 [GRCh38]
Chr2:239234433 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1451+19G>A single nucleotide variant not provided [RCV001504849] Chr2:238349427 [GRCh38]
Chr2:239258068 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1551C>T (p.Leu517=) single nucleotide variant not provided [RCV001488261] Chr2:238352926 [GRCh38]
Chr2:239261567 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.683A>G (p.Asn228Ser) single nucleotide variant TRAF3IP1-related disorder [RCV003980550]|not provided [RCV001516913] Chr2:238329110 [GRCh38]
Chr2:239237751 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.885G>T (p.Lys295Asn) single nucleotide variant not provided [RCV001516914] Chr2:238329312 [GRCh38]
Chr2:239237953 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.906T>C (p.Pro302=) single nucleotide variant TRAF3IP1-related disorder [RCV003966100]|not provided [RCV001516915] Chr2:238329333 [GRCh38]
Chr2:239237974 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1246A>T (p.Thr416Ser) single nucleotide variant TRAF3IP1-related disorder [RCV003980551]|not provided [RCV001516916] Chr2:238344583 [GRCh38]
Chr2:239253224 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1533G>A (p.Val511=) single nucleotide variant not provided [RCV001500386] Chr2:238352908 [GRCh38]
Chr2:239261549 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1407C>G (p.Pro469=) single nucleotide variant not provided [RCV001521076] Chr2:238349364 [GRCh38]
Chr2:239258005 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.715C>T (p.Arg239Trp) single nucleotide variant not provided [RCV001521251] Chr2:238329142 [GRCh38]
Chr2:239237783 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.999C>T (p.Ser333=) single nucleotide variant not provided [RCV001417621] Chr2:238333971 [GRCh38]
Chr2:239242612 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1605G>A (p.Glu535=) single nucleotide variant not provided [RCV001459272] Chr2:238353202 [GRCh38]
Chr2:239261843 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1461T>C (p.Ser487=) single nucleotide variant not provided [RCV001461460] Chr2:238352836 [GRCh38]
Chr2:239261477 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.768G>C (p.Gly256=) single nucleotide variant not provided [RCV001416008] Chr2:238329195 [GRCh38]
Chr2:239237836 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.416G>A (p.Arg139Gln) single nucleotide variant TRAF3IP1-related disorder [RCV003966104]|not provided [RCV001517704] Chr2:238328747 [GRCh38]
Chr2:239237388 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.363T>C (p.Ser121=) single nucleotide variant not provided [RCV001441066] Chr2:238328694 [GRCh38]
Chr2:239237335 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.69C>A (p.Thr23=) single nucleotide variant Senior-Loken syndrome 9 [RCV001838671]|not provided [RCV001517862] Chr2:238320731 [GRCh38]
Chr2:239229372 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.168C>T (p.Ala56=) single nucleotide variant TRAF3IP1-related disorder [RCV003953813]|not provided [RCV001437464] Chr2:238325350 [GRCh38]
Chr2:239233991 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.684C>T (p.Asn228=) single nucleotide variant not provided [RCV001489346] Chr2:238329111 [GRCh38]
Chr2:239237752 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.764G>A (p.Gly255Glu) single nucleotide variant not provided [RCV003108533] Chr2:238329191 [GRCh38]
Chr2:239237832 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1436C>T (p.Ala479Val) single nucleotide variant Inborn genetic diseases [RCV004041753]|not provided [RCV001896695] Chr2:238349393 [GRCh38]
Chr2:239258034 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.915+1G>A single nucleotide variant not provided [RCV002024733] Chr2:238329343 [GRCh38]
Chr2:239237984 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.23G>A (p.Arg8Gln) single nucleotide variant not provided [RCV002044633] Chr2:238320685 [GRCh38]
Chr2:239229326 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.392G>C (p.Gly131Ala) single nucleotide variant not provided [RCV001930083] Chr2:238328723 [GRCh38]
Chr2:239237364 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1347T>G (p.Asn449Lys) single nucleotide variant not provided [RCV001863968] Chr2:238348828 [GRCh38]
Chr2:239257469 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.647A>G (p.Glu216Gly) single nucleotide variant not provided [RCV002025967] Chr2:238329074 [GRCh38]
Chr2:239237715 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1097T>C (p.Leu366Ser) single nucleotide variant not provided [RCV002041410] Chr2:238338395 [GRCh38]
Chr2:239247036 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.713A>G (p.Glu238Gly) single nucleotide variant not provided [RCV001967925] Chr2:238329140 [GRCh38]
Chr2:239237781 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.949T>C (p.Ser317Pro) single nucleotide variant not provided [RCV001986952] Chr2:238332857 [GRCh38]
Chr2:239241498 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.808G>A (p.Asp270Asn) single nucleotide variant not provided [RCV001964258] Chr2:238329235 [GRCh38]
Chr2:239237876 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1040G>A (p.Arg347Gln) single nucleotide variant not provided [RCV001914605] Chr2:238334012 [GRCh38]
Chr2:239242653 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2066C>T (p.Ser689Leu) single nucleotide variant Inborn genetic diseases [RCV002552819]|not provided [RCV001895359] Chr2:238398909 [GRCh38]
Chr2:239307550 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2071dup (p.Arg691fs) duplication not provided [RCV001874419] Chr2:238398912..238398913 [GRCh38]
Chr2:239307553..239307554 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1911G>T (p.Arg637Ser) single nucleotide variant not provided [RCV002024541] Chr2:238398754 [GRCh38]
Chr2:239307395 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1171G>A (p.Ala391Thr) single nucleotide variant not provided [RCV001988765] Chr2:238344508 [GRCh38]
Chr2:239253149 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.692A>G (p.Gln231Arg) single nucleotide variant not provided [RCV001950500] Chr2:238329119 [GRCh38]
Chr2:239237760 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.522del (p.Glu175fs) deletion not provided [RCV002039924] Chr2:238328946 [GRCh38]
Chr2:239237587 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.594CAAGGA[3] (p.198DK[3]) microsatellite not provided [RCV002004143] Chr2:238329015..238329016 [GRCh38]
Chr2:239237656..239237657 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1910+5G>A single nucleotide variant not provided [RCV001893096] Chr2:238397684 [GRCh38]
Chr2:239306325 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1291G>T (p.Ala431Ser) single nucleotide variant Inborn genetic diseases [RCV004970567]|not provided [RCV001948361] Chr2:238348772 [GRCh38]
Chr2:239257413 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1159+1G>C single nucleotide variant not provided [RCV001983491] Chr2:238338458 [GRCh38]
Chr2:239247099 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1869C>T (p.Ser623=) single nucleotide variant not provided [RCV001945801] Chr2:238397638 [GRCh38]
Chr2:239306279 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.290C>T (p.Ala97Val) single nucleotide variant Inborn genetic diseases [RCV002562134]|not provided [RCV001965050] Chr2:238325906 [GRCh38]
Chr2:239234547 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.26C>G (p.Thr9Arg) single nucleotide variant not provided [RCV001894837] Chr2:238320688 [GRCh38]
Chr2:239229329 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.235G>C (p.Val79Leu) single nucleotide variant not provided [RCV001967583] Chr2:238325851 [GRCh38]
Chr2:239234492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.920C>T (p.Ala307Val) single nucleotide variant not provided [RCV001986865] Chr2:238332828 [GRCh38]
Chr2:239241469 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1462G>A (p.Gly488Ser) single nucleotide variant not provided [RCV001912421] Chr2:238352837 [GRCh38]
Chr2:239261478 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.381G>C (p.Arg127Ser) single nucleotide variant not provided [RCV001913546] Chr2:238328712 [GRCh38]
Chr2:239237353 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.853G>A (p.Gly285Arg) single nucleotide variant not provided [RCV002003816] Chr2:238329280 [GRCh38]
Chr2:239237921 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1957C>G (p.Leu653Val) single nucleotide variant not provided [RCV001889486] Chr2:238398800 [GRCh38]
Chr2:239307441 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.905C>T (p.Pro302Leu) single nucleotide variant not provided [RCV002004052] Chr2:238329332 [GRCh38]
Chr2:239237973 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1091A>G (p.Lys364Arg) single nucleotide variant not provided [RCV002020287] Chr2:238338389 [GRCh38]
Chr2:239247030 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1613-6C>G single nucleotide variant not provided [RCV002046681] Chr2:238355998 [GRCh38]
Chr2:239264639 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.988-7C>A single nucleotide variant not provided [RCV001905629] Chr2:238333953 [GRCh38]
Chr2:239242594 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.785T>C (p.Leu262Pro) single nucleotide variant not provided [RCV001888490] Chr2:238329212 [GRCh38]
Chr2:239237853 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.511G>A (p.Ala171Thr) single nucleotide variant not provided [RCV001887319] Chr2:238328938 [GRCh38]
Chr2:239237579 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1789G>A (p.Ala597Thr) single nucleotide variant not provided [RCV001952166] Chr2:238397558 [GRCh38]
Chr2:239306199 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.377G>A (p.Arg126Gln) single nucleotide variant not provided [RCV001942826] Chr2:238328708 [GRCh38]
Chr2:239237349 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1064G>A (p.Gly355Glu) single nucleotide variant Inborn genetic diseases [RCV002550483]|Senior-Loken syndrome 9 [RCV003333204]|not provided [RCV002039003] Chr2:238338362 [GRCh38]
Chr2:239247003 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.389C>A (p.Ala130Asp) single nucleotide variant not provided [RCV001886520] Chr2:238328720 [GRCh38]
Chr2:239237361 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.587A>G (p.Glu196Gly) single nucleotide variant not provided [RCV001990226] Chr2:238329014 [GRCh38]
Chr2:239237655 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.768dup (p.Lys257fs) duplication not provided [RCV001999242] Chr2:238329188..238329189 [GRCh38]
Chr2:239237829..239237830 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.369T>A (p.Asp123Glu) single nucleotide variant not provided [RCV001996138] Chr2:238328700 [GRCh38]
Chr2:239237341 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1314G>A (p.Lys438=) single nucleotide variant not provided [RCV001951035] Chr2:238348795 [GRCh38]
Chr2:239257436 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1582G>A (p.Ala528Thr) single nucleotide variant not provided [RCV002033583] Chr2:238353179 [GRCh38]
Chr2:239261820 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.485A>C (p.His162Pro) single nucleotide variant not provided [RCV001962727] Chr2:238328816 [GRCh38]
Chr2:239237457 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.979G>A (p.Glu327Lys) single nucleotide variant not provided [RCV001898760] Chr2:238332887 [GRCh38]
Chr2:239241528 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1709C>T (p.Ser570Leu) single nucleotide variant not provided [RCV001919242] Chr2:238397478 [GRCh38]
Chr2:239306119 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.750_753del (p.Lys252fs) microsatellite not provided [RCV001951940] Chr2:238329174..238329177 [GRCh38]
Chr2:239237815..239237818 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.371C>T (p.Ala124Val) single nucleotide variant not provided [RCV001904459] Chr2:238328702 [GRCh38]
Chr2:239237343 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1689+4A>G single nucleotide variant not provided [RCV002010630] Chr2:238356084 [GRCh38]
Chr2:239264725 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1114G>A (p.Gly372Arg) single nucleotide variant not provided [RCV001920797] Chr2:238338412 [GRCh38]
Chr2:239247053 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.235G>A (p.Val79Met) single nucleotide variant Inborn genetic diseases [RCV002641993]|not provided [RCV001991353] Chr2:238325851 [GRCh38]
Chr2:239234492 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance|no classifications from unflagged records
NM_015650.4(TRAF3IP1):c.1990A>T (p.Ile664Phe) single nucleotide variant Inborn genetic diseases [RCV002560690]|not provided [RCV001931559] Chr2:238398833 [GRCh38]
Chr2:239307474 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1749A>G (p.Ile583Met) single nucleotide variant not provided [RCV002015156] Chr2:238397518 [GRCh38]
Chr2:239306159 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.613A>G (p.Lys205Glu) single nucleotide variant not provided [RCV001879170] Chr2:238329040 [GRCh38]
Chr2:239237681 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1561T>G (p.Ser521Ala) single nucleotide variant not provided [RCV001903301] Chr2:238352936 [GRCh38]
Chr2:239261577 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.987+1G>A single nucleotide variant not provided [RCV001954853] Chr2:238332896 [GRCh38]
Chr2:239241537 [GRCh37]
Chr2:2q37.3		 likely pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1043G>T (p.Arg348Leu) single nucleotide variant not provided [RCV001931717] Chr2:238334015 [GRCh38]
Chr2:239242656 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.202G>A (p.Ala68Thr) single nucleotide variant not provided [RCV001918540] Chr2:238325818 [GRCh38]
Chr2:239234459 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1364T>A (p.Ile455Asn) single nucleotide variant Inborn genetic diseases [RCV004045361]|not provided [RCV001989176] Chr2:238348845 [GRCh38]
Chr2:239257486 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.594CAAGGA[1] (p.198DK[1]) microsatellite not provided [RCV001866689] Chr2:238329016..238329021 [GRCh38]
Chr2:239237657..239237662 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.625G>A (p.Gly209Arg) single nucleotide variant Inborn genetic diseases [RCV003348589]|not provided [RCV001920094] Chr2:238329052 [GRCh38]
Chr2:239237693 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.1763C>T (p.Thr588Met) single nucleotide variant not provided [RCV002012383] Chr2:238397532 [GRCh38]
Chr2:239306173 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1678C>A (p.Pro560Thr) single nucleotide variant Inborn genetic diseases [RCV004045335]|not provided [RCV002009953] Chr2:238356069 [GRCh38]
Chr2:239264710 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.911A>G (p.Lys304Arg) single nucleotide variant not provided [RCV001880879] Chr2:238329338 [GRCh38]
Chr2:239237979 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.796del (p.Asp266fs) deletion not provided [RCV001917763] Chr2:238329221 [GRCh38]
Chr2:239237862 [GRCh37]
Chr2:2q37.3		 pathogenic|uncertain significance
NM_015650.4(TRAF3IP1):c.1105A>G (p.Ile369Val) single nucleotide variant not provided [RCV001932433] Chr2:238338403 [GRCh38]
Chr2:239247044 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1222T>C (p.Cys408Arg) single nucleotide variant not provided [RCV001992733] Chr2:238344559 [GRCh38]
Chr2:239253200 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1147A>G (p.Thr383Ala) single nucleotide variant not provided [RCV001997832] Chr2:238338445 [GRCh38]
Chr2:239247086 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.173T>C (p.Met58Thr) single nucleotide variant not provided [RCV001935591] Chr2:238325355 [GRCh38]
Chr2:239233996 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.434G>T (p.Arg145Ile) single nucleotide variant not provided [RCV002017345] Chr2:238328765 [GRCh38]
Chr2:239237406 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.764G>T (p.Gly255Val) single nucleotide variant not provided [RCV002050040] Chr2:238329191 [GRCh38]
Chr2:239237832 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.575G>A (p.Arg192His) single nucleotide variant not provided [RCV002009885] Chr2:238329002 [GRCh38]
Chr2:239237643 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1133A>C (p.Asn378Thr) single nucleotide variant not provided [RCV001886139] Chr2:238338431 [GRCh38]
Chr2:239247072 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1842G>A (p.Met614Ile) single nucleotide variant not provided [RCV001917658] Chr2:238397611 [GRCh38]
Chr2:239306252 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1573A>T (p.Met525Leu) single nucleotide variant not provided [RCV001925862] Chr2:238352948 [GRCh38]
Chr2:239261589 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.910A>G (p.Lys304Glu) single nucleotide variant Inborn genetic diseases [RCV002545286]|not provided [RCV002034931] Chr2:238329337 [GRCh38]
Chr2:239237978 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.970T>C (p.Ser324Pro) single nucleotide variant not provided [RCV001925148] Chr2:238332878 [GRCh38]
Chr2:239241519 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1810A>G (p.Met604Val) single nucleotide variant not provided [RCV002018755] Chr2:238397579 [GRCh38]
Chr2:239306220 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1343C>T (p.Pro448Leu) single nucleotide variant not provided [RCV001960264] Chr2:238348824 [GRCh38]
Chr2:239257465 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1870G>A (p.Glu624Lys) single nucleotide variant not provided [RCV001902455] Chr2:238397639 [GRCh38]
Chr2:239306280 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.465AGA[2] (p.Glu158del) microsatellite not provided [RCV001954703] Chr2:238328796..238328798 [GRCh38]
Chr2:239237437..239237439 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1330A>T (p.Thr444Ser) single nucleotide variant not provided [RCV002013503] Chr2:238348811 [GRCh38]
Chr2:239257452 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.44A>G (p.Lys15Arg) single nucleotide variant not provided [RCV001996454] Chr2:238320706 [GRCh38]
Chr2:239229347 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1452-12C>A single nucleotide variant not provided [RCV002169653] Chr2:238352815 [GRCh38]
Chr2:239261456 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.192+13C>T single nucleotide variant not provided [RCV002144839] Chr2:238325387 [GRCh38]
Chr2:239234028 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1367+9G>T single nucleotide variant not provided [RCV002146410] Chr2:238348857 [GRCh38]
Chr2:239257498 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.192+15G>A single nucleotide variant not provided [RCV002130013] Chr2:238325389 [GRCh38]
Chr2:239234030 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1159+13T>C single nucleotide variant not provided [RCV002089027] Chr2:238338470 [GRCh38]
Chr2:239247111 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1575+12G>A single nucleotide variant not provided [RCV002128771] Chr2:238352962 [GRCh38]
Chr2:239261603 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1674C>A (p.Pro558=) single nucleotide variant not provided [RCV002092147] Chr2:238356065 [GRCh38]
Chr2:239264706 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.562T>C (p.Leu188=) single nucleotide variant not provided [RCV002207771] Chr2:238328989 [GRCh38]
Chr2:239237630 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.798C>T (p.Asp266=) single nucleotide variant not provided [RCV002187079] Chr2:238329225 [GRCh38]
Chr2:239237866 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.18G>A (p.Val6=) single nucleotide variant not provided [RCV002130690] Chr2:238320680 [GRCh38]
Chr2:239229321 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1018T>C (p.Leu340=) single nucleotide variant not provided [RCV002148152] Chr2:238333990 [GRCh38]
Chr2:239242631 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1407C>A (p.Pro469=) single nucleotide variant not provided [RCV002170183] Chr2:238349364 [GRCh38]
Chr2:239258005 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.861C>T (p.His287=) single nucleotide variant not provided [RCV002166887] Chr2:238329288 [GRCh38]
Chr2:239237929 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.876C>T (p.Asp292=) single nucleotide variant not provided [RCV002209005] Chr2:238329303 [GRCh38]
Chr2:239237944 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1689+18A>G single nucleotide variant not provided [RCV002129249] Chr2:238356098 [GRCh38]
Chr2:239264739 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.192+11G>A single nucleotide variant not provided [RCV002191023] Chr2:238325385 [GRCh38]
Chr2:239234026 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.784C>T (p.Leu262=) single nucleotide variant not provided [RCV002126318] Chr2:238329211 [GRCh38]
Chr2:239237852 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.499-11T>A single nucleotide variant not provided [RCV002126391] Chr2:238328915 [GRCh38]
Chr2:239237556 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1950C>T (p.Leu650=) single nucleotide variant not provided [RCV002111807] Chr2:238398793 [GRCh38]
Chr2:239307434 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.499-5C>T single nucleotide variant not provided [RCV002169205] Chr2:238328921 [GRCh38]
Chr2:239237562 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.852C>T (p.Asn284=) single nucleotide variant not provided [RCV002146537] Chr2:238329279 [GRCh38]
Chr2:239237920 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.558A>G (p.Glu186=) single nucleotide variant not provided [RCV002109056] Chr2:238328985 [GRCh38]
Chr2:239237626 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1612+20G>A single nucleotide variant not provided [RCV002150601] Chr2:238353229 [GRCh38]
Chr2:239261870 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1575+20_1575+22del microsatellite not provided [RCV002152397] Chr2:238352967..238352969 [GRCh38]
Chr2:239261608..239261610 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1728G>A (p.Lys576=) single nucleotide variant not provided [RCV002174298] Chr2:238397497 [GRCh38]
Chr2:239306138 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.762G>A (p.Glu254=) single nucleotide variant not provided [RCV002151270] Chr2:238329189 [GRCh38]
Chr2:239237830 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1262-11T>C single nucleotide variant not provided [RCV002205537] Chr2:238347444 [GRCh38]
Chr2:239256085 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.124-15C>T single nucleotide variant not provided [RCV002074558] Chr2:238325291 [GRCh38]
Chr2:239233932 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.624C>T (p.Gly208=) single nucleotide variant not provided [RCV002186387] Chr2:238329051 [GRCh38]
Chr2:239237692 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+48_1910+179del deletion not provided [RCV002132818] Chr2:238397684..238397815 [GRCh38]
Chr2:239306325..239306456 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1575+18T>C single nucleotide variant not provided [RCV002152608] Chr2:238352968 [GRCh38]
Chr2:239261609 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1160-14C>T single nucleotide variant not provided [RCV002095069] Chr2:238344483 [GRCh38]
Chr2:239253124 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1887C>T (p.Ala629=) single nucleotide variant not provided [RCV002201756] Chr2:238397656 [GRCh38]
Chr2:239306297 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1262-6del deletion not provided [RCV002203538] Chr2:238347449 [GRCh38]
Chr2:239256090 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.282A>G (p.Arg94=) single nucleotide variant not provided [RCV002155808] Chr2:238325898 [GRCh38]
Chr2:239234539 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1261+20G>T single nucleotide variant not provided [RCV002179078] Chr2:238344618 [GRCh38]
Chr2:239253259 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1613-17C>T single nucleotide variant not provided [RCV002142948] Chr2:238355987 [GRCh38]
Chr2:239264628 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1740C>T (p.Ser580=) single nucleotide variant not provided [RCV002179919] Chr2:238397509 [GRCh38]
Chr2:239306150 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.225G>A (p.Lys75=) single nucleotide variant not provided [RCV002204579] Chr2:238325841 [GRCh38]
Chr2:239234482 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.918A>G (p.Ser306=) single nucleotide variant not provided [RCV002142311] Chr2:238332826 [GRCh38]
Chr2:239241467 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.186T>C (p.Asn62=) single nucleotide variant not provided [RCV002161102] Chr2:238325368 [GRCh38]
Chr2:239234009 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.915+11G>T single nucleotide variant not provided [RCV002201209] Chr2:238329353 [GRCh38]
Chr2:239237994 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.117C>T (p.Ile39=) single nucleotide variant not provided [RCV002119762] Chr2:238320779 [GRCh38]
Chr2:239229420 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.916-16T>C single nucleotide variant not provided [RCV002159559] Chr2:238332808 [GRCh38]
Chr2:239241449 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.1393A>C (p.Arg465=) single nucleotide variant not provided [RCV002136272] Chr2:238349350 [GRCh38]
Chr2:239257991 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.499-16T>C single nucleotide variant not provided [RCV002158628] Chr2:238328910 [GRCh38]
Chr2:239237551 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1317T>C (p.Ser439=) single nucleotide variant not provided [RCV002176456] Chr2:238348798 [GRCh38]
Chr2:239257439 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1063+19A>G single nucleotide variant not provided [RCV002158706] Chr2:238334054 [GRCh38]
Chr2:239242695 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1261+20G>A single nucleotide variant not provided [RCV002140141] Chr2:238344618 [GRCh38]
Chr2:239253259 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.93G>A (p.Pro31=) single nucleotide variant not provided [RCV002140142] Chr2:238320755 [GRCh38]
Chr2:239229396 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.354+17G>C single nucleotide variant not provided [RCV002143670] Chr2:238325987 [GRCh38]
Chr2:239234628 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.192+14G>A single nucleotide variant not provided [RCV002135621] Chr2:238325388 [GRCh38]
Chr2:239234029 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1282+12C>T single nucleotide variant not provided [RCV002123645] Chr2:238347487 [GRCh38]
Chr2:239256128 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.615G>A (p.Lys205=) single nucleotide variant not provided [RCV002184098] Chr2:238329042 [GRCh38]
Chr2:239237683 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1283-15T>C single nucleotide variant not provided [RCV002217562] Chr2:238348749 [GRCh38]
Chr2:239257390 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1041G>A (p.Arg347=) single nucleotide variant not provided [RCV002199232] Chr2:238334013 [GRCh38]
Chr2:239242654 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1575+17A>G single nucleotide variant not provided [RCV002161050] Chr2:238352967 [GRCh38]
Chr2:239261608 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.69C>G (p.Thr23=) single nucleotide variant not provided [RCV002218187] Chr2:238320731 [GRCh38]
Chr2:239229372 [GRCh37]
Chr2:2q37.3		 likely benign
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1A [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NC_000002.11:g.(?_239229304)_(239238003_?)del deletion not provided [RCV003119642] Chr2:239229304..239238003 [GRCh37]
Chr2:2q37.3		 pathogenic
NC_000002.11:g.(?_239306080)_(239307560_?)del deletion not provided [RCV003119643] Chr2:239306080..239307560 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_239306080)_(239307560_?)dup duplication not provided [RCV003119644] Chr2:239306080..239307560 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1876A>C (p.Arg626=) single nucleotide variant not provided [RCV003119042] Chr2:238397645 [GRCh38]
Chr2:239306286 [GRCh37]
Chr2:2q37.3		 likely benign
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1 copy number loss not provided [RCV002293050] Chr2:239229304..243199373 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.636C>G (p.His212Gln) single nucleotide variant not provided [RCV002681495] Chr2:238329063 [GRCh38]
Chr2:239237704 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.118A>G (p.Thr40Ala) single nucleotide variant not provided [RCV002469518] Chr2:238320780 [GRCh38]
Chr2:239229421 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2011A>T (p.Ile671Phe) single nucleotide variant not provided [RCV002299115] Chr2:238398854 [GRCh38]
Chr2:239307495 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1010C>G (p.Ser337Cys) single nucleotide variant not provided [RCV002303138] Chr2:238333982 [GRCh38]
Chr2:239242623 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1802G>C (p.Gly601Ala) single nucleotide variant not provided [RCV002295882] Chr2:238397571 [GRCh38]
Chr2:239306212 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1283-2A>T single nucleotide variant not provided [RCV003016028] Chr2:238348762 [GRCh38]
Chr2:239257403 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_015650.4(TRAF3IP1):c.637A>C (p.Arg213=) single nucleotide variant not provided [RCV002863482] Chr2:238329064 [GRCh38]
Chr2:239237705 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.89C>T (p.Pro30Leu) single nucleotide variant not provided [RCV002970635] Chr2:238320751 [GRCh38]
Chr2:239229392 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.293G>C (p.Gly98Ala) single nucleotide variant not provided [RCV002971959] Chr2:238325909 [GRCh38]
Chr2:239234550 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.108C>T (p.His36=) single nucleotide variant not provided [RCV002972084] Chr2:238320770 [GRCh38]
Chr2:239229411 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1063+9A>G single nucleotide variant not provided [RCV003033018] Chr2:238334044 [GRCh38]
Chr2:239242685 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.858G>C (p.Glu286Asp) single nucleotide variant not provided [RCV002908777] Chr2:238329285 [GRCh38]
Chr2:239237926 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.916-6T>A single nucleotide variant not provided [RCV002947774] Chr2:238332818 [GRCh38]
Chr2:239241459 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1961A>C (p.Glu654Ala) single nucleotide variant Inborn genetic diseases [RCV002865380] Chr2:238398804 [GRCh38]
Chr2:239307445 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1966C>T (p.Leu656=) single nucleotide variant not provided [RCV003034475] Chr2:238398809 [GRCh38]
Chr2:239307450 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1282+4A>G single nucleotide variant not provided [RCV002636174] Chr2:238347479 [GRCh38]
Chr2:239256120 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.485A>G (p.His162Arg) single nucleotide variant Inborn genetic diseases [RCV002777698] Chr2:238328816 [GRCh38]
Chr2:239237457 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1764G>A (p.Thr588=) single nucleotide variant not provided [RCV003016429] Chr2:238397533 [GRCh38]
Chr2:239306174 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.763G>A (p.Gly255Arg) single nucleotide variant not provided [RCV003035115] Chr2:238329190 [GRCh38]
Chr2:239237831 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1576G>A (p.Val526Ile) single nucleotide variant not provided [RCV003035081] Chr2:238353173 [GRCh38]
Chr2:239261814 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2064T>G (p.Thr688=) single nucleotide variant not provided [RCV002880534] Chr2:238398907 [GRCh38]
Chr2:239307548 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1613-8T>C single nucleotide variant not provided [RCV002991817] Chr2:238355996 [GRCh38]
Chr2:239264637 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1830C>T (p.Asp610=) single nucleotide variant not provided [RCV002685945] Chr2:238397599 [GRCh38]
Chr2:239306240 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1735G>A (p.Val579Ile) single nucleotide variant Inborn genetic diseases [RCV002685466]|not provided [RCV002654381] Chr2:238397504 [GRCh38]
Chr2:239306145 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.355-17T>G single nucleotide variant not provided [RCV002862862] Chr2:238328669 [GRCh38]
Chr2:239237310 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1367+19C>T single nucleotide variant not provided [RCV002727090] Chr2:238348867 [GRCh38]
Chr2:239257508 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.2036A>G (p.Gln679Arg) single nucleotide variant not provided [RCV002617916] Chr2:238398879 [GRCh38]
Chr2:239307520 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.971C>T (p.Ser324Phe) single nucleotide variant not provided [RCV002730959] Chr2:238332879 [GRCh38]
Chr2:239241520 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1254_1255delinsAA (p.Gln419Lys) indel not provided [RCV002618277] Chr2:238344591..238344592 [GRCh38]
Chr2:239253232..239253233 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1409G>A (p.Arg470Gln) single nucleotide variant not provided [RCV003002942] Chr2:238349366 [GRCh38]
Chr2:239258007 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.68C>T (p.Thr23Ile) single nucleotide variant Inborn genetic diseases [RCV002981083] Chr2:238320730 [GRCh38]
Chr2:239229371 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2017A>G (p.Lys673Glu) single nucleotide variant not provided [RCV002927872] Chr2:238398860 [GRCh38]
Chr2:239307501 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.804_805delinsTT (p.Glu268_Arg269delinsAspCys) indel not provided [RCV002796811] Chr2:238329231..238329232 [GRCh38]
Chr2:239237872..239237873 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.123+10G>A single nucleotide variant not provided [RCV003003180] Chr2:238320795 [GRCh38]
Chr2:239229436 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1499A>G (p.Asn500Ser) single nucleotide variant not provided [RCV002740440] Chr2:238352874 [GRCh38]
Chr2:239261515 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.422C>T (p.Ser141Leu) single nucleotide variant Inborn genetic diseases [RCV002762731] Chr2:238328753 [GRCh38]
Chr2:239237394 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1652A>T (p.Tyr551Phe) single nucleotide variant not provided [RCV003035287] Chr2:238356043 [GRCh38]
Chr2:239264684 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.300G>A (p.Glu100=) single nucleotide variant not provided [RCV002847572] Chr2:238325916 [GRCh38]
Chr2:239234557 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.2032dup (p.Ile678fs) duplication not provided [RCV002696041] Chr2:238398869..238398870 [GRCh38]
Chr2:239307510..239307511 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.355-7C>T single nucleotide variant not provided [RCV002757001] Chr2:238328679 [GRCh38]
Chr2:239237320 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1641G>A (p.Thr547=) single nucleotide variant not provided [RCV002735889] Chr2:238356032 [GRCh38]
Chr2:239264673 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.90C>G (p.Pro30=) single nucleotide variant not provided [RCV002638782] Chr2:238320752 [GRCh38]
Chr2:239229393 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1286G>A (p.Gly429Glu) single nucleotide variant not provided [RCV002706218] Chr2:238348767 [GRCh38]
Chr2:239257408 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.764G>C (p.Gly255Ala) single nucleotide variant Inborn genetic diseases [RCV004064366]|not provided [RCV002570154] Chr2:238329191 [GRCh38]
Chr2:239237832 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.26C>T (p.Thr9Met) single nucleotide variant not provided [RCV003035946] Chr2:238320688 [GRCh38]
Chr2:239229329 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.987+23_987+24insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAAAAATAACTTTT insertion not provided [RCV002820498] Chr2:238332903..238332904 [GRCh38]
Chr2:239241544..239241545 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.12:g.238397683GGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTG[2] microsatellite not provided [RCV003053314] Chr2:238397659..238397702 [GRCh38]
Chr2:239306300..239306343 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.57G>T (p.Arg19Ser) single nucleotide variant not provided [RCV002705987] Chr2:238320719 [GRCh38]
Chr2:239229360 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.545G>A (p.Arg182Gln) single nucleotide variant not provided [RCV002909237] Chr2:238328972 [GRCh38]
Chr2:239237613 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1690-20C>T single nucleotide variant not provided [RCV003038683] Chr2:238397439 [GRCh38]
Chr2:239306080 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1367+18C>T single nucleotide variant not provided [RCV003018624] Chr2:238348866 [GRCh38]
Chr2:239257507 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.683_684inv (p.Asn228Ser) inversion not provided [RCV002690838] Chr2:238329110..238329111 [GRCh38]
Chr2:239237751..239237752 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1747A>G (p.Ile583Val) single nucleotide variant not provided [RCV003038394] Chr2:238397516 [GRCh38]
Chr2:239306157 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1451+7C>G single nucleotide variant not provided [RCV002659305] Chr2:238349415 [GRCh38]
Chr2:239258056 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1280C>G (p.Ala427Gly) single nucleotide variant not provided [RCV002761013] Chr2:238347473 [GRCh38]
Chr2:239256114 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1831G>A (p.Val611Met) single nucleotide variant not provided [RCV002621927] Chr2:238397600 [GRCh38]
Chr2:239306241 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1502C>G (p.Ser501Cys) single nucleotide variant not provided [RCV002638419] Chr2:238352877 [GRCh38]
Chr2:239261518 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.988-3A>G single nucleotide variant not provided [RCV002846905] Chr2:238333957 [GRCh38]
Chr2:239242598 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1690-14C>G single nucleotide variant not provided [RCV002694845] Chr2:238397445 [GRCh38]
Chr2:239306086 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.498+3G>A single nucleotide variant not provided [RCV002622138] Chr2:238328832 [GRCh38]
Chr2:239237473 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.730G>A (p.Glu244Lys) single nucleotide variant not provided [RCV002569685] Chr2:238329157 [GRCh38]
Chr2:239237798 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1823A>G (p.Gln608Arg) single nucleotide variant not provided [RCV003018136] Chr2:238397592 [GRCh38]
Chr2:239306233 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2069G>A (p.Arg690Lys) single nucleotide variant not provided [RCV003021193] Chr2:238398912 [GRCh38]
Chr2:239307553 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1245C>T (p.Pro415=) single nucleotide variant not provided [RCV002705377] Chr2:238344582 [GRCh38]
Chr2:239253223 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1159+14A>G single nucleotide variant not provided [RCV002662619] Chr2:238338471 [GRCh38]
Chr2:239247112 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1451G>A (p.Arg484Lys) single nucleotide variant not provided [RCV002999791] Chr2:238349408 [GRCh38]
Chr2:239258049 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1261+2T>A single nucleotide variant not provided [RCV003038044] Chr2:238344600 [GRCh38]
Chr2:239253241 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_015650.4(TRAF3IP1):c.802G>T (p.Glu268Ter) single nucleotide variant not provided [RCV003054615] Chr2:238329229 [GRCh38]
Chr2:239237870 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1658A>G (p.Lys553Arg) single nucleotide variant not provided [RCV003008154] Chr2:238356049 [GRCh38]
Chr2:239264690 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.192+16G>A single nucleotide variant not provided [RCV002829924] Chr2:238325390 [GRCh38]
Chr2:239234031 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1694G>A (p.Arg565Gln) single nucleotide variant not provided [RCV003043480] Chr2:238397463 [GRCh38]
Chr2:239306104 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.928G>A (p.Gly310Arg) single nucleotide variant Inborn genetic diseases [RCV002830925] Chr2:238332836 [GRCh38]
Chr2:239241477 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1602G>A (p.Glu534=) single nucleotide variant not provided [RCV003026171] Chr2:238353199 [GRCh38]
Chr2:239261840 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.688C>T (p.Arg230Ter) single nucleotide variant not provided [RCV003023708] Chr2:238329115 [GRCh38]
Chr2:239237756 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.786G>C (p.Leu262=) single nucleotide variant not provided [RCV002852817] Chr2:238329213 [GRCh38]
Chr2:239237854 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+20A>G single nucleotide variant not provided [RCV002828946] Chr2:238397699 [GRCh38]
Chr2:239306340 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.52C>T (p.Arg18Trp) single nucleotide variant Inborn genetic diseases [RCV002850806] Chr2:238320714 [GRCh38]
Chr2:239229355 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1281A>C (p.Ala427=) single nucleotide variant not provided [RCV002852643] Chr2:238347474 [GRCh38]
Chr2:239256115 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.228C>A (p.Ala76=) single nucleotide variant not provided [RCV002982137] Chr2:238325844 [GRCh38]
Chr2:239234485 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1494A>C (p.Ser498=) single nucleotide variant not provided [RCV002890362] Chr2:238352869 [GRCh38]
Chr2:239261510 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1128G>A (p.Glu376=) single nucleotide variant not provided [RCV002642672] Chr2:238338426 [GRCh38]
Chr2:239247067 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.124-13T>G single nucleotide variant not provided [RCV002574203] Chr2:238325293 [GRCh38]
Chr2:239233934 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1768A>G (p.Ile590Val) single nucleotide variant not provided [RCV003057646] Chr2:238397537 [GRCh38]
Chr2:239306178 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1910+20A>C single nucleotide variant not provided [RCV002625456] Chr2:238397699 [GRCh38]
Chr2:239306340 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.742G>A (p.Glu248Lys) single nucleotide variant Inborn genetic diseases [RCV002713300] Chr2:238329169 [GRCh38]
Chr2:239237810 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1196C>T (p.Ser399Leu) single nucleotide variant not provided [RCV002829191] Chr2:238344533 [GRCh38]
Chr2:239253174 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1613-20A>T single nucleotide variant not provided [RCV002700864] Chr2:238355984 [GRCh38]
Chr2:239264625 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.369dup (p.Ala124fs) duplication not provided [RCV003082366] Chr2:238328699..238328700 [GRCh38]
Chr2:239237340..239237341 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.101A>G (p.Tyr34Cys) single nucleotide variant not provided [RCV003056364] Chr2:238320763 [GRCh38]
Chr2:239229404 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1885G>A (p.Ala629Thr) single nucleotide variant not provided [RCV003055860] Chr2:238397654 [GRCh38]
Chr2:239306295 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.469G>A (p.Glu157Lys) single nucleotide variant not provided [RCV002741318] Chr2:238328800 [GRCh38]
Chr2:239237441 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1890G>A (p.Glu630=) single nucleotide variant not provided [RCV002932493] Chr2:238397659 [GRCh38]
Chr2:239306300 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1542C>A (p.Ala514=) single nucleotide variant not provided [RCV002918396] Chr2:238352917 [GRCh38]
Chr2:239261558 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.690A>G (p.Arg230=) single nucleotide variant not provided [RCV002574936] Chr2:238329117 [GRCh38]
Chr2:239237758 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.297T>C (p.His99=) single nucleotide variant not provided [RCV003022296] Chr2:238325913 [GRCh38]
Chr2:239234554 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1841T>C (p.Met614Thr) single nucleotide variant not provided [RCV003023447] Chr2:238397610 [GRCh38]
Chr2:239306251 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1089T>C (p.Ala363=) single nucleotide variant not provided [RCV002852946] Chr2:238338387 [GRCh38]
Chr2:239247028 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.988-7C>T single nucleotide variant not provided [RCV003091122] Chr2:238333953 [GRCh38]
Chr2:239242594 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1972A>G (p.Lys658Glu) single nucleotide variant not provided [RCV002581757] Chr2:238398815 [GRCh38]
Chr2:239307456 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.780G>A (p.Glu260=) single nucleotide variant not provided [RCV002791680] Chr2:238329207 [GRCh38]
Chr2:239237848 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.863C>T (p.Ser288Phe) single nucleotide variant not provided [RCV002716603] Chr2:238329290 [GRCh38]
Chr2:239237931 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.192+19T>C single nucleotide variant not provided [RCV002937589] Chr2:238325393 [GRCh38]
Chr2:239234034 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1888G>A (p.Glu630Lys) single nucleotide variant not provided [RCV002715266] Chr2:238397657 [GRCh38]
Chr2:239306298 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1910+13A>C single nucleotide variant not provided [RCV003027604] Chr2:238397692 [GRCh38]
Chr2:239306333 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1743G>A (p.Lys581=) single nucleotide variant not provided [RCV002578372] Chr2:238397512 [GRCh38]
Chr2:239306153 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.627A>T (p.Gly209=) single nucleotide variant not provided [RCV002576669] Chr2:238329054 [GRCh38]
Chr2:239237695 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1779G>A (p.Leu593=) single nucleotide variant not provided [RCV002670706] Chr2:238397548 [GRCh38]
Chr2:239306189 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.574C>A (p.Arg192Ser) single nucleotide variant Inborn genetic diseases [RCV004966130]|not provided [RCV002833794] Chr2:238329001 [GRCh38]
Chr2:239237642 [GRCh37]
Chr2:2q37.3		 likely benign|uncertain significance
NM_015650.4(TRAF3IP1):c.212G>C (p.Ser71Thr) single nucleotide variant not provided [RCV003026581] Chr2:238325828 [GRCh38]
Chr2:239234469 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1651T>G (p.Tyr551Asp) single nucleotide variant not provided [RCV002937619] Chr2:238356042 [GRCh38]
Chr2:239264683 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1721A>C (p.Lys574Thr) single nucleotide variant not provided [RCV003026665] Chr2:238397490 [GRCh38]
Chr2:239306131 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1910+4G>T single nucleotide variant not provided [RCV003063095] Chr2:238397683 [GRCh38]
Chr2:239306324 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.177G>A (p.Lys59=) single nucleotide variant not provided [RCV002877380] Chr2:238325359 [GRCh38]
Chr2:239234000 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1712C>G (p.Ala571Gly) single nucleotide variant not provided [RCV002646658] Chr2:238397481 [GRCh38]
Chr2:239306122 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1910+8G>T single nucleotide variant not provided [RCV002646114] Chr2:238397687 [GRCh38]
Chr2:239306328 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.463C>A (p.Arg155=) single nucleotide variant not provided [RCV003064112] Chr2:238328794 [GRCh38]
Chr2:239237435 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.635A>G (p.His212Arg) single nucleotide variant not provided [RCV002810836] Chr2:238329062 [GRCh38]
Chr2:239237703 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.322C>T (p.Leu108Phe) single nucleotide variant not provided [RCV002576677] Chr2:238325938 [GRCh38]
Chr2:239234579 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.699del (p.Asp233fs) deletion not provided [RCV003087952] Chr2:238329126 [GRCh38]
Chr2:239237767 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.769A>C (p.Lys257Gln) single nucleotide variant not provided [RCV002577035] Chr2:238329196 [GRCh38]
Chr2:239237837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1261+19C>T single nucleotide variant not provided [RCV002580115] Chr2:238344617 [GRCh38]
Chr2:239253258 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.916-20A>G single nucleotide variant not provided [RCV002601658] Chr2:238332804 [GRCh38]
Chr2:239241445 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.769A>G (p.Lys257Glu) single nucleotide variant not provided [RCV002631835] Chr2:238329196 [GRCh38]
Chr2:239237837 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.114C>T (p.Ile38=) single nucleotide variant not provided [RCV003029964] Chr2:238320776 [GRCh38]
Chr2:239229417 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+3G>T single nucleotide variant not provided [RCV002630413] Chr2:238397682 [GRCh38]
Chr2:239306323 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.915+20C>G single nucleotide variant not provided [RCV002720313] Chr2:238329362 [GRCh38]
Chr2:239238003 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.771A>G (p.Lys257=) single nucleotide variant not provided [RCV002598285] Chr2:238329198 [GRCh38]
Chr2:239237839 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.544C>A (p.Arg182=) single nucleotide variant not provided [RCV002715711] Chr2:238328971 [GRCh38]
Chr2:239237612 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.230T>C (p.Ile77Thr) single nucleotide variant not provided [RCV002630932] Chr2:238325846 [GRCh38]
Chr2:239234487 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1367+3_1367+8del deletion not provided [RCV002658057] Chr2:238348849..238348854 [GRCh38]
Chr2:239257490..239257495 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1452-5T>G single nucleotide variant not provided [RCV002943699] Chr2:238352822 [GRCh38]
Chr2:239261463 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.568G>A (p.Glu190Lys) single nucleotide variant not provided [RCV003050069] Chr2:238328995 [GRCh38]
Chr2:239237636 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1451+14A>G single nucleotide variant not provided [RCV002609642] Chr2:238349422 [GRCh38]
Chr2:239258063 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1630A>G (p.Ile544Val) single nucleotide variant not provided [RCV002604627] Chr2:238356021 [GRCh38]
Chr2:239264662 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.372G>A (p.Ala124=) single nucleotide variant not provided [RCV002604671] Chr2:238328703 [GRCh38]
Chr2:239237344 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.904C>T (p.Pro302Ser) single nucleotide variant not provided [RCV003050419] Chr2:238329331 [GRCh38]
Chr2:239237972 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.980A>G (p.Glu327Gly) single nucleotide variant not provided [RCV002584341] Chr2:238332888 [GRCh38]
Chr2:239241529 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1014G>A (p.Lys338=) single nucleotide variant not provided [RCV002612354] Chr2:238333986 [GRCh38]
Chr2:239242627 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1872G>C (p.Glu624Asp) single nucleotide variant not provided [RCV002586249] Chr2:238397641 [GRCh38]
Chr2:239306282 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.812G>A (p.Arg271Gln) single nucleotide variant Senior-Loken syndrome 9 [RCV003141141] Chr2:238329239 [GRCh38]
Chr2:239237880 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1225G>A (p.Glu409Lys) single nucleotide variant Inborn genetic diseases [RCV003260280] Chr2:238344562 [GRCh38]
Chr2:239253203 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1474T>C (p.Ser492Pro) single nucleotide variant Inborn genetic diseases [RCV003371603] Chr2:238352849 [GRCh38]
Chr2:239261490 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.123+1G>T single nucleotide variant not provided [RCV003571834] Chr2:238320786 [GRCh38]
Chr2:239229427 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.435A>T (p.Arg145Ser) single nucleotide variant not provided [RCV003874507] Chr2:238328766 [GRCh38]
Chr2:239237407 [GRCh37]
Chr2:2q37.3		 uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3		 pathogenic
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 copy number loss not provided [RCV003485294] Chr2:238460671..242783384 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.916-5A>G single nucleotide variant not provided [RCV003579245] Chr2:238332819 [GRCh38]
Chr2:239241460 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.978T>C (p.Ala326=) single nucleotide variant not provided [RCV003712888] Chr2:238332886 [GRCh38]
Chr2:239241527 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1839C>A (p.Ala613=) single nucleotide variant not provided [RCV003688447] Chr2:238397608 [GRCh38]
Chr2:239306249 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.498+16C>T single nucleotide variant not provided [RCV003693944] Chr2:238328845 [GRCh38]
Chr2:239237486 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1689+19T>C single nucleotide variant not provided [RCV003576820] Chr2:238356099 [GRCh38]
Chr2:239264740 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1791A>G (p.Ala597=) single nucleotide variant not provided [RCV003829982] Chr2:238397560 [GRCh38]
Chr2:239306201 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1262-13G>A single nucleotide variant not provided [RCV003660647] Chr2:238347442 [GRCh38]
Chr2:239256083 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1629A>G (p.Lys543=) single nucleotide variant not provided [RCV003715545] Chr2:238356020 [GRCh38]
Chr2:239264661 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1368-16C>T single nucleotide variant not provided [RCV005062600] Chr2:238349309 [GRCh38]
Chr2:239257950 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1612+15C>T single nucleotide variant not provided [RCV003834430] Chr2:238353224 [GRCh38]
Chr2:239261865 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1213A>G (p.Ser405Gly) single nucleotide variant not provided [RCV003832631] Chr2:238344550 [GRCh38]
Chr2:239253191 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.123+17G>A single nucleotide variant not provided [RCV003811243] Chr2:238320802 [GRCh38]
Chr2:239229443 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.681C>T (p.Asp227=) single nucleotide variant not provided [RCV003674394] Chr2:238329108 [GRCh38]
Chr2:239237749 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.768G>T (p.Gly256=) single nucleotide variant not provided [RCV003816466] Chr2:238329195 [GRCh38]
Chr2:239237836 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.906T>G (p.Pro302=) single nucleotide variant not provided [RCV003667687] Chr2:238329333 [GRCh38]
Chr2:239237974 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1576-14C>T single nucleotide variant not provided [RCV003672210] Chr2:238353159 [GRCh38]
Chr2:239261800 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1367+20C>G single nucleotide variant not provided [RCV003835399] Chr2:238348868 [GRCh38]
Chr2:239257509 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1617A>G (p.Gly539=) single nucleotide variant not provided [RCV003559958] Chr2:238356008 [GRCh38]
Chr2:239264649 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.2050A>G (p.Ser684Gly) single nucleotide variant not provided [RCV003667614] Chr2:238398893 [GRCh38]
Chr2:239307534 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.193-16A>C single nucleotide variant not provided [RCV003701896] Chr2:238325793 [GRCh38]
Chr2:239234434 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1613-3C>T single nucleotide variant not provided [RCV003832632] Chr2:238356001 [GRCh38]
Chr2:239264642 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.228C>T (p.Ala76=) single nucleotide variant not provided [RCV003566761] Chr2:238325844 [GRCh38]
Chr2:239234485 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.424C>G (p.Leu142Val) single nucleotide variant not provided [RCV003563860] Chr2:238328755 [GRCh38]
Chr2:239237396 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.123+16C>A single nucleotide variant not provided [RCV003818909] Chr2:238320801 [GRCh38]
Chr2:239229442 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1451+17A>G single nucleotide variant not provided [RCV003680409] Chr2:238349425 [GRCh38]
Chr2:239258066 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1856A>G (p.Gln619Arg) single nucleotide variant not provided [RCV003708098] Chr2:238397625 [GRCh38]
Chr2:239306266 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.543T>C (p.Asp181=) single nucleotide variant not provided [RCV003821538] Chr2:238328970 [GRCh38]
Chr2:239237611 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.559G>T (p.Glu187Ter) single nucleotide variant not provided [RCV003718712] Chr2:238328986 [GRCh38]
Chr2:239237627 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.42G>C (p.Gly14=) single nucleotide variant not provided [RCV003821830] Chr2:238320704 [GRCh38]
Chr2:239229345 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.668G>A (p.Arg223Gln) single nucleotide variant not provided [RCV003823909] Chr2:238329095 [GRCh38]
Chr2:239237736 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.355-6G>A single nucleotide variant not provided [RCV003859831] Chr2:238328680 [GRCh38]
Chr2:239237321 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.462G>A (p.Val154=) single nucleotide variant not provided [RCV003864704] Chr2:238328793 [GRCh38]
Chr2:239237434 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1386G>A (p.Gly462=) single nucleotide variant not provided [RCV003853517] Chr2:238349343 [GRCh38]
Chr2:239257984 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1042C>A (p.Arg348=) single nucleotide variant not provided [RCV003567453] Chr2:238334014 [GRCh38]
Chr2:239242655 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1858_1860delinsCTA (p.Met620Leu) indel not provided [RCV003862450] Chr2:238397627..238397629 [GRCh38]
Chr2:239306268..239306270 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.102C>T (p.Tyr34=) single nucleotide variant not provided [RCV003677260] Chr2:238320764 [GRCh38]
Chr2:239229405 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1944T>C (p.Ala648=) single nucleotide variant not provided [RCV003857337] Chr2:238398787 [GRCh38]
Chr2:239307428 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1821C>T (p.Ile607=) single nucleotide variant not provided [RCV003677509] Chr2:238397590 [GRCh38]
Chr2:239306231 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.771del (p.Glu258fs) deletion not provided [RCV003555023] Chr2:238329196 [GRCh38]
Chr2:239237837 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.774_775del (p.Lys259fs) microsatellite not provided [RCV003555024] Chr2:238329198..238329199 [GRCh38]
Chr2:239237839..239237840 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1950C>G (p.Leu650=) single nucleotide variant not provided [RCV003821490] Chr2:238398793 [GRCh38]
Chr2:239307434 [GRCh37]
Chr2:2q37.3		 likely benign
GRCh37/hg19 2q37.3(chr2:237577774-239670026)x3 copy number gain See cases [RCV004442768] Chr2:237577774..239670026 [GRCh37]
Chr2:2q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 copy number loss See cases [RCV004442765] Chr2:235267074..242782258 [GRCh37]
Chr2:2q37.1-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.551_554del (p.Gln184fs) deletion Senior-Loken syndrome 9 [RCV004547379] Chr2:238328978..238328981 [GRCh38]
Chr2:239237619..239237622 [GRCh37]
Chr2:2q37.3		 likely pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1 copy number loss not provided [RCV004577474] Chr2:236478472..243048854 [GRCh37]
Chr2:2q37.2-37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.599A>C (p.Asp200Ala) single nucleotide variant Inborn genetic diseases [RCV004471114] Chr2:238329026 [GRCh38]
Chr2:239237667 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.199G>T (p.Asp67Tyr) single nucleotide variant Inborn genetic diseases [RCV004677411] Chr2:238325815 [GRCh38]
Chr2:239234456 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.28C>G (p.Gln10Glu) single nucleotide variant Inborn genetic diseases [RCV004677412] Chr2:238320690 [GRCh38]
Chr2:239229331 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1915A>C (p.Thr639Pro) single nucleotide variant Inborn genetic diseases [RCV004677414] Chr2:238398758 [GRCh38]
Chr2:239307399 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.835A>G (p.Arg279Gly) single nucleotide variant Inborn genetic diseases [RCV004677415] Chr2:238329262 [GRCh38]
Chr2:239237903 [GRCh37]
Chr2:2q37.3		 uncertain significance
NC_000002.11:g.(?_237481970)_(242801596_?)del deletion Bethlem myopathy 1A [RCV004583694] Chr2:237481970..242801596 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.945G>A (p.Lys315=) single nucleotide variant not provided [RCV004810420] Chr2:238332853 [GRCh38]
Chr2:239241494 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.308G>C (p.Arg103Thr) single nucleotide variant Inborn genetic diseases [RCV004967198] Chr2:238325924 [GRCh38]
Chr2:239234565 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.942A>T (p.Lys314Asn) single nucleotide variant Inborn genetic diseases [RCV004967197] Chr2:238332850 [GRCh38]
Chr2:239241491 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1497C>G (p.His499Gln) single nucleotide variant Inborn genetic diseases [RCV004967199] Chr2:238352872 [GRCh38]
Chr2:239261513 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.913A>C (p.Lys305Gln) single nucleotide variant Inborn genetic diseases [RCV004967196] Chr2:238329340 [GRCh38]
Chr2:239237981 [GRCh37]
Chr2:2q37.3		 uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:235384191-241611345)x3 copy number gain not provided [RCV004819452] Chr2:235384191..241611345 [GRCh37]
Chr2:2q37.1-37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.2067G>A (p.Ser689=) single nucleotide variant not provided [RCV005147162] Chr2:238398910 [GRCh38]
Chr2:239307551 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.987+16T>G single nucleotide variant not provided [RCV005067537] Chr2:238332911 [GRCh38]
Chr2:239241552 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.445T>C (p.Leu149=) single nucleotide variant not provided [RCV005068123] Chr2:238328776 [GRCh38]
Chr2:239237417 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1910+8dup duplication not provided [RCV005196248] Chr2:238397681..238397682 [GRCh38]
Chr2:239306322..239306323 [GRCh37]
Chr2:2q37.3		 benign
NM_015650.4(TRAF3IP1):c.166G>A (p.Ala56Thr) single nucleotide variant not provided [RCV005066202] Chr2:238325348 [GRCh38]
Chr2:239233989 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1235A>C (p.Gln412Pro) single nucleotide variant not provided [RCV005086344] Chr2:238344572 [GRCh38]
Chr2:239253213 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1038A>G (p.Lys346=) single nucleotide variant not provided [RCV005066579] Chr2:238334010 [GRCh38]
Chr2:239242651 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.423A>G (p.Ser141=) single nucleotide variant not provided [RCV005174194] Chr2:238328754 [GRCh38]
Chr2:239237395 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1483A>G (p.Ile495Val) single nucleotide variant not provided [RCV005085257] Chr2:238352858 [GRCh38]
Chr2:239261499 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.1350G>A (p.Glu450=) single nucleotide variant not provided [RCV005146469] Chr2:238348831 [GRCh38]
Chr2:239257472 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1878G>A (p.Arg626=) single nucleotide variant not provided [RCV005156907] Chr2:238397647 [GRCh38]
Chr2:239306288 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.567A>G (p.Lys189=) single nucleotide variant not provided [RCV005191493] Chr2:238328994 [GRCh38]
Chr2:239237635 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.355-12T>G single nucleotide variant not provided [RCV005080382] Chr2:238328674 [GRCh38]
Chr2:239237315 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.354+20A>G single nucleotide variant not provided [RCV005079608] Chr2:238325990 [GRCh38]
Chr2:239234631 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.192+7T>C single nucleotide variant not provided [RCV005117166] Chr2:238325381 [GRCh38]
Chr2:239234022 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.390T>C (p.Ala130=) single nucleotide variant not provided [RCV005077437] Chr2:238328721 [GRCh38]
Chr2:239237362 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1451+9G>C single nucleotide variant not provided [RCV005198893] Chr2:238349417 [GRCh38]
Chr2:239258058 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1063+18T>C single nucleotide variant not provided [RCV005144066] Chr2:238334053 [GRCh38]
Chr2:239242694 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1734C>A (p.Ile578=) single nucleotide variant not provided [RCV005113312] Chr2:238397503 [GRCh38]
Chr2:239306144 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV005164992] Chr2:238320664 [GRCh38]
Chr2:239229305 [GRCh37]
Chr2:2q37.3		 uncertain significance
NM_015650.4(TRAF3IP1):c.916-2A>G single nucleotide variant not provided [RCV005167432] Chr2:238332822 [GRCh38]
Chr2:239241463 [GRCh37]
Chr2:2q37.3		 likely pathogenic
NM_015650.4(TRAF3IP1):c.597G>A (p.Lys199=) single nucleotide variant not provided [RCV005163599] Chr2:238329024 [GRCh38]
Chr2:239237665 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1063+16T>A single nucleotide variant not provided [RCV005140524] Chr2:238334051 [GRCh38]
Chr2:239242692 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1596A>G (p.Glu532=) single nucleotide variant not provided [RCV005119085] Chr2:238353193 [GRCh38]
Chr2:239261834 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1262-17A>G single nucleotide variant not provided [RCV005207207] Chr2:238347438 [GRCh38]
Chr2:239256079 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1002T>C (p.Thr334=) single nucleotide variant not provided [RCV005138755] Chr2:238333974 [GRCh38]
Chr2:239242615 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.99C>G (p.Arg33=) single nucleotide variant not provided [RCV005202014] Chr2:238320761 [GRCh38]
Chr2:239229402 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1262-12C>G single nucleotide variant not provided [RCV005154946] Chr2:238347443 [GRCh38]
Chr2:239256084 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1545T>C (p.Pro515=) single nucleotide variant not provided [RCV005183993] Chr2:238352920 [GRCh38]
Chr2:239261561 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.354+13T>A single nucleotide variant not provided [RCV005125373] Chr2:238325983 [GRCh38]
Chr2:239234624 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1282+9T>C single nucleotide variant not provided [RCV005116215] Chr2:238347484 [GRCh38]
Chr2:239256125 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.799C>T (p.Arg267Ter) single nucleotide variant not provided [RCV005179606] Chr2:238329226 [GRCh38]
Chr2:239237867 [GRCh37]
Chr2:2q37.3		 pathogenic
NM_015650.4(TRAF3IP1):c.1161A>C (p.Gly387=) single nucleotide variant not provided [RCV005126658] Chr2:238344498 [GRCh38]
Chr2:239253139 [GRCh37]
Chr2:2q37.3		 likely benign
NM_015650.4(TRAF3IP1):c.1452-16A>G single nucleotide variant not provided [RCV005182992] Chr2:238352811 [GRCh38]
Chr2:239261452 [GRCh37]
Chr2:2q37.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2843
Count of miRNA genes:818
Interacting mature miRNAs:924
Transcripts:ENST00000373327, ENST00000391993, ENST00000391994, ENST00000409739, ENST00000462122, ENST00000483951
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
596965746GWAS1085265_Hpsoriasis QTL GWAS1085265 (human)0.0000001psoriasis2238365936238365937Human
406974443GWAS623419_Heye measurement QTL GWAS623419 (human)0.000006eye measurementeye measurement (CMO:0003079)2238397627238397628Human
597264693GWAS1360767_Hcup-to-disc ratio measurement QTL GWAS1360767 (human)3e-09cup-to-disc ratio measurement2238365308238365309Human
597281268GWAS1377342_Hinsomnia QTL GWAS1377342 (human)2e-08insomnia2238323097238323098Human
597159578GWAS1255652_Hlipid measurement QTL GWAS1255652 (human)0.000009lipid measurementblood lipid measurement (CMO:0000050)2238330971238330972Human
406974447GWAS623423_Heye measurement QTL GWAS623423 (human)2e-12eye measurementeye measurement (CMO:0003079)2238397627238397628Human
406917747GWAS566723_Hcup-to-disc ratio measurement QTL GWAS566723 (human)2e-08cup-to-disc ratio measurement2238367637238367638Human
597111813GWAS1207887_Hintraocular pressure measurement QTL GWAS1207887 (human)1e-10intraocular pressure measurement2238393927238393928Human
2289332BW376_HBody weight QTL 376 (human)1.870.00168Body fat amountabdominal2213765566239765566Human
597268079GWAS1364153_Hinsomnia QTL GWAS1364153 (human)9e-10insomnia2238323097238323098Human
597117249GWAS1213323_Hintraocular pressure measurement QTL GWAS1213323 (human)1e-08intraocular pressure measurement2238397627238397628Human
406923036GWAS572012_Hcup-to-disc ratio measurement QTL GWAS572012 (human)0.000002cup-to-disc ratio measurement2238367637238367638Human
597044107GWAS1140181_HAstigmatism QTL GWAS1140181 (human)0.0000005Astigmatism2238398472238398473Human
407060605GWAS709581_Hchronotype measurement QTL GWAS709581 (human)3e-32sleep behavior trait (VT:0001501)2238399408238399409Human
406942590GWAS591566_Hinsomnia measurement QTL GWAS591566 (human)5e-09sleep behavior trait (VT:0001501)2238322836238322837Human
407060604GWAS709580_Hchronotype measurement QTL GWAS709580 (human)2e-09sleep behavior trait (VT:0001501)2238334326238334327Human
597153832GWAS1249906_Hpsoriasis QTL GWAS1249906 (human)0.0000001psoriasis2238365936238365937Human

Markers in Region
SHGC-78398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,258,040 - 239,258,347UniSTSGRCh37
Build 362238,922,779 - 238,923,086RGDNCBI36
Celera2232,970,536 - 232,970,843RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,049,009 - 231,049,316UniSTS
TNG Radiation Hybrid Map2134398.0UniSTS
TRAF3IP1_9465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,307,453 - 239,307,928UniSTSGRCh37
Build 362238,972,192 - 238,972,667RGDNCBI36
Celera2233,019,955 - 233,020,430RGD
HuRef2231,098,569 - 231,099,044UniSTS
RH65470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372239,307,591 - 239,307,770UniSTSGRCh37
Build 362238,972,330 - 238,972,509RGDNCBI36
Celera2233,020,093 - 233,020,272RGD
Cytogenetic Map2q37.3UniSTS
HuRef2231,098,707 - 231,098,886UniSTS
GeneMap99-GB4 RH Map2741.4UniSTS
NCBI RH Map21892.2UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2435 2788 2248 4970 1726 2351 6 623 1950 465 2268 7296 6466 53 3733 851 1742 1616 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_053055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001139490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF230877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF242456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI356967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC059174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX482493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373327   ⟹   ENSP00000362424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,320,518 - 238,400,897 (+)Ensembl
Ensembl Acc Id: ENST00000391993   ⟹   ENSP00000375851
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,320,441 - 238,400,822 (+)Ensembl
Ensembl Acc Id: ENST00000409739   ⟹   ENSP00000386648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,320,536 - 238,329,342 (+)Ensembl
Ensembl Acc Id: ENST00000462122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,347,183 - 238,397,680 (+)Ensembl
Ensembl Acc Id: ENST00000483951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,397,422 - 238,398,971 (+)Ensembl
RefSeq Acc Id: NM_001139490   ⟹   NP_001132962
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,544 - 238,400,900 (+)NCBI
GRCh372239,229,185 - 239,309,541 (+)RGD
Celera2232,941,689 - 233,022,043 (+)RGD
HuRef2231,020,156 - 231,100,657 (+)RGD
CHM1_12239,234,988 - 239,315,765 (+)NCBI
T2T-CHM13v2.02238,810,322 - 238,891,033 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015650   ⟹   NP_056465
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,897 (+)NCBI
GRCh372239,229,185 - 239,309,541 (+)RGD
Build 362238,893,821 - 238,972,536 (+)NCBI Archive
Celera2232,941,689 - 233,022,043 (+)RGD
HuRef2231,020,156 - 231,100,657 (+)RGD
CHM1_12239,234,988 - 239,315,765 (+)NCBI
T2T-CHM13v2.02238,810,296 - 238,891,030 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712414   ⟹   XP_006712477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510944   ⟹   XP_011509246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510945   ⟹   XP_011509247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510946   ⟹   XP_011509248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510948   ⟹   XP_011509250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510950   ⟹   XP_011509252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,343,801 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003789   ⟹   XP_016859278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443898   ⟹   XP_047299854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,400,900 (+)NCBI
RefSeq Acc Id: XM_054341334   ⟹   XP_054197309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341335   ⟹   XP_054197310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341336   ⟹   XP_054197311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341337   ⟹   XP_054197312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341338   ⟹   XP_054197313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341339   ⟹   XP_054197314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341340   ⟹   XP_054197315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,891,033 (+)NCBI
RefSeq Acc Id: XM_054341341   ⟹   XP_054197316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,833,589 - 238,891,033 (+)NCBI
RefSeq Acc Id: XR_008486320
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,810,296 - 238,887,318 (+)NCBI
RefSeq Acc Id: XR_922902
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,397,523 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001132962 (Get FASTA)   NCBI Sequence Viewer  
  NP_056465 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712477 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509246 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509247 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509248 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509250 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509252 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859278 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299854 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197309 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197310 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197311 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197314 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197315 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197316 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF76984 (Get FASTA)   NCBI Sequence Viewer  
  AAH59174 (Get FASTA)   NCBI Sequence Viewer  
  AAL90444 (Get FASTA)   NCBI Sequence Viewer  
  AAX88977 (Get FASTA)   NCBI Sequence Viewer  
  CAB45744 (Get FASTA)   NCBI Sequence Viewer  
  EAW71156 (Get FASTA)   NCBI Sequence Viewer  
  EAW71157 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362424
  ENSP00000362424.4
  ENSP00000375851
  ENSP00000375851.3
  ENSP00000386648.2
GenBank Protein Q8TDR0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056465   ⟸   NM_015650
- Peptide Label: isoform 1
- UniProtKB: Q9NRD6 (UniProtKB/Swiss-Prot),   Q7L8N9 (UniProtKB/Swiss-Prot),   Q6PCT1 (UniProtKB/Swiss-Prot),   Q9Y4Q1 (UniProtKB/Swiss-Prot),   Q8TDR0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001132962   ⟸   NM_001139490
- Peptide Label: isoform 2
- UniProtKB: Q8TDR0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712477   ⟸   XM_006712414
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011509246   ⟸   XM_011510944
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011509247   ⟸   XM_011510945
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011509250   ⟸   XM_011510948
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011509248   ⟸   XM_011510946
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011509252   ⟸   XM_011510950
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016859278   ⟸   XM_017003789
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000362424   ⟸   ENST00000373327
Ensembl Acc Id: ENSP00000375851   ⟸   ENST00000391993
Ensembl Acc Id: ENSP00000386648   ⟸   ENST00000409739
RefSeq Acc Id: XP_047299854   ⟸   XM_047443898
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197309   ⟸   XM_054341334
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197310   ⟸   XM_054341335
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197311   ⟸   XM_054341336
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054197313   ⟸   XM_054341338
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054197314   ⟸   XM_054341339
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054197312   ⟸   XM_054341337
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054197315   ⟸   XM_054341340
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054197316   ⟸   XM_054341341
- Peptide Label: isoform X8
Protein Domains
TRAF3-interacting protein 1 N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TDR0-F1-model_v2 AlphaFold Q8TDR0 1-691 view protein structure

Promoters
RGD ID:6863276
Promoter ID:EPDNEW_H4803
Type:initiation region
Name:TRAF3IP1_1
Description:TRAF3 interacting protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,320,518 - 238,320,578EPDNEW
RGD ID:6798356
Promoter ID:HG_KWN:38027
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000391993,   ENST00000391994,   ENST00000409739,   OTTHUMT00000328312,   OTTHUMT00000328314
Position:
Human AssemblyChrPosition (strand)Source
Build 362238,893,606 - 238,894,106 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17861 AgrOrtholog
COSMIC TRAF3IP1 COSMIC
Ensembl Genes ENSG00000204104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373327 ENTREZGENE
  ENST00000373327.5 UniProtKB/Swiss-Prot
  ENST00000391993 ENTREZGENE
  ENST00000391993.7 UniProtKB/Swiss-Prot
  ENST00000409739.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.418.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204104 GTEx
HGNC ID HGNC:17861 ENTREZGENE
Human Proteome Map TRAF3IP1 Human Proteome Map
InterPro TRAF3IP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF3IP1_C UniProtKB/Swiss-Prot
  TRAF3IP1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF3IP1_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26146 UniProtKB/Swiss-Prot
NCBI Gene 26146 ENTREZGENE
OMIM 607380 OMIM
PANTHER PTHR31363 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF3-INTERACTING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MIP-T3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MIP-T3_C UniProtKB/Swiss-Prot
PharmGKB PA134943602 PharmGKB
UniProt H7BZ10_HUMAN UniProtKB/TrEMBL
  MIPT3_HUMAN UniProtKB/Swiss-Prot
  Q6PCT1 ENTREZGENE
  Q7L8N9 ENTREZGENE
  Q8TDR0 ENTREZGENE
  Q9NRD6 ENTREZGENE
  Q9Y4Q1 ENTREZGENE
UniProt Secondary Q6PCT1 UniProtKB/Swiss-Prot
  Q7L8N9 UniProtKB/Swiss-Prot
  Q9NRD6 UniProtKB/Swiss-Prot
  Q9Y4Q1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TRAF3IP1  TRAF3 interacting protein 1    TNF receptor-associated factor 3 interacting protein 1  Symbol and/or name change 5135510 APPROVED