IGSF10 (immunoglobulin superfamily member 10) - Rat Genome Database

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Gene: IGSF10 (immunoglobulin superfamily member 10) Homo sapiens
Analyze
Symbol: IGSF10
Name: immunoglobulin superfamily member 10
RGD ID: 1352652
HGNC Page HGNC:26384
Description: Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: calvaria mechanical force protein 608; CMF608; FLJ25972; immunoglobulin superfamily, member 10
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
GRCh383151,432,432 - 151,619,925 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3151,425,384 - 151,461,061 (-)EnsemblGRCh38hg38GRCh38
GRCh373151,153,991 - 151,257,104 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363152,637,167 - 152,659,187 (-)NCBINCBI36Build 36hg18NCBI36
Build 343152,637,174 - 152,659,195NCBI
Celera3149,572,109 - 149,594,842 (-)NCBICelera
Cytogenetic Map3q25.1NCBI
HuRef3148,533,138 - 148,555,872 (-)NCBIHuRef
CHM1_13151,116,911 - 151,139,641 (-)NCBICHM1_1
T2T-CHM13v2.03154,193,223 - 154,376,990 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
extracellular region  (IBA,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:14702039   PMID:16344560   PMID:21832049   PMID:21873635   PMID:27137492   PMID:29676528   PMID:29987050   PMID:30021884   PMID:30631154   PMID:31586073   PMID:32612575   PMID:34349018  
PMID:35696571   PMID:38334954   PMID:38622980  


Genomics

Comparative Map Data
IGSF10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383151,432,432 - 151,619,925 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3151,425,384 - 151,461,061 (-)EnsemblGRCh38hg38GRCh38
GRCh373151,153,991 - 151,257,104 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363152,637,167 - 152,659,187 (-)NCBINCBI36Build 36hg18NCBI36
Build 343152,637,174 - 152,659,195NCBI
Celera3149,572,109 - 149,594,842 (-)NCBICelera
Cytogenetic Map3q25.1NCBI
HuRef3148,533,138 - 148,555,872 (-)NCBIHuRef
CHM1_13151,116,911 - 151,139,641 (-)NCBICHM1_1
T2T-CHM13v2.03154,193,223 - 154,376,990 (-)NCBIT2T-CHM13v2.0
Igsf10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39359,224,156 - 59,256,836 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl359,224,156 - 59,251,815 (-)EnsemblGRCm39 Ensembl
GRCm38359,316,735 - 59,344,438 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl359,316,735 - 59,344,394 (-)EnsemblGRCm38mm10GRCm38
MGSCv37359,120,657 - 59,148,178 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36359,404,664 - 59,432,185 (-)NCBIMGSCv36mm8
Celera359,004,000 - 59,031,501 (-)NCBICelera
Cytogenetic Map3DNCBI
cM Map329.03NCBI
Igsf10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82145,725,868 - 145,754,850 (-)NCBIGRCr8
mRatBN7.22143,575,710 - 143,605,044 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2143,576,070 - 143,604,773 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2150,215,446 - 150,244,161 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02148,327,870 - 148,356,620 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02142,960,281 - 142,989,031 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02149,535,199 - 149,564,180 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2149,533,151 - 149,564,113 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02168,967,564 - 168,996,524 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42148,704,646 - 148,734,103 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12148,654,608 - 148,684,073 (-)NCBI
Celera2138,000,516 - 138,029,209 (-)NCBICelera
Cytogenetic Map2q26NCBI
Igsf10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554482,528,703 - 2,557,656 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554482,532,973 - 2,557,650 (-)NCBIChiLan1.0ChiLan1.0
IGSF10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22149,334,202 - 149,362,921 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13149,339,410 - 149,361,474 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03148,461,331 - 148,488,696 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13156,033,528 - 156,056,003 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3156,030,099 - 156,056,003 (-)Ensemblpanpan1.1panPan2
IGSF10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12346,002,163 - 46,058,656 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2346,002,308 - 46,059,936 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2345,866,591 - 45,923,482 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02346,628,844 - 46,685,867 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2346,629,318 - 46,687,214 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12346,217,698 - 46,274,621 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02346,269,685 - 46,326,605 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02346,546,832 - 46,603,735 (-)NCBIUU_Cfam_GSD_1.0
Igsf10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560290,079,550 - 90,109,254 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367581,660,313 - 1,686,404 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367581,660,254 - 1,686,404 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IGSF10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1391,625,431 - 91,679,079 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11391,625,421 - 91,679,494 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21399,845,339 - 99,881,443 (-)NCBISscrofa10.2Sscrofa10.2susScr3
IGSF10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11539,200,244 - 39,266,759 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1539,240,849 - 39,265,142 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604112,055,884 - 12,081,599 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Igsf10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473028,862,656 - 28,890,263 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473028,862,624 - 28,891,855 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in IGSF10
382 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q25.1-25.2(chr3:151142354-154931417)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051577]|See cases [RCV000051577] Chr3:151142354..154931417 [GRCh38]
Chr3:150860141..154649206 [GRCh37]
Chr3:152342831..156131900 [NCBI36]
Chr3:3q25.1-25.2		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
NM_178822.4(IGSF10):c.3069C>T (p.Ile1023=) single nucleotide variant Malignant melanoma [RCV000065888] Chr3:151446912 [GRCh38]
Chr3:151164700 [GRCh37]
Chr3:152647390 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.2776A>T (p.Thr926Ser) single nucleotide variant Malignant melanoma [RCV000065889] Chr3:151447205 [GRCh38]
Chr3:151164993 [GRCh37]
Chr3:152647683 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.1147G>A (p.Asp383Asn) single nucleotide variant Malignant melanoma [RCV000065890] Chr3:151448834 [GRCh38]
Chr3:151166622 [GRCh37]
Chr3:152649312 [NCBI36]
Chr3:3q25.1		 not provided
NM_001178145.1(IGSF10):c.1807G>A (p.Glu603Lys) single nucleotide variant Malignant melanoma [RCV000060738] Chr3:151436835 [GRCh38]
Chr3:151154623 [GRCh37]
Chr3:152637313 [NCBI36]
Chr3:3q25.1		 not provided
NM_001178145.1(IGSF10):c.153T>C (p.Asp51=) single nucleotide variant Malignant melanoma [RCV000060739] Chr3:151438489 [GRCh38]
Chr3:151156277 [GRCh37]
Chr3:152638967 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.5238G>A (p.Arg1746=) single nucleotide variant Malignant melanoma [RCV000060740] Chr3:151443709 [GRCh38]
Chr3:151161497 [GRCh37]
Chr3:152644187 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.4907C>T (p.Pro1636Leu) single nucleotide variant Malignant melanoma [RCV000060741] Chr3:151445074 [GRCh38]
Chr3:151162862 [GRCh37]
Chr3:152645552 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.4724T>A (p.Phe1575Tyr) single nucleotide variant Malignant melanoma [RCV000060742] Chr3:151445257 [GRCh38]
Chr3:151163045 [GRCh37]
Chr3:152645735 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.4623C>T (p.Phe1541=) single nucleotide variant Malignant melanoma [RCV000060743] Chr3:151445358 [GRCh38]
Chr3:151163146 [GRCh37]
Chr3:152645836 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.4(IGSF10):c.381C>T (p.Gly127=) single nucleotide variant Malignant melanoma [RCV000060744] Chr3:151453718 [GRCh38]
Chr3:151171506 [GRCh37]
Chr3:152654196 [NCBI36]
Chr3:3q25.1		 not provided
NM_178822.5(IGSF10):c.5477G>A (p.Gly1826Asp) single nucleotide variant Premature ovarian failure [RCV001002735]|not provided [RCV001860518] Chr3:151443470 [GRCh38]
Chr3:151161258 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.346A>G (p.Lys116Glu) single nucleotide variant Premature ovarian failure [RCV001002745] Chr3:151453753 [GRCh38]
Chr3:151171541 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3 copy number gain See cases [RCV000141402] Chr3:151182346..151437002 [GRCh38]
Chr3:150900133..151154790 [GRCh37]
Chr3:152382823..152637480 [NCBI36]
Chr3:3q25.1		 uncertain significance
GRCh38/hg38 3q25.1-25.2(chr3:151429416-155118646)x1 copy number loss See cases [RCV000141813] Chr3:151429416..155118646 [GRCh38]
Chr3:151147204..154836435 [GRCh37]
Chr3:152629894..156319129 [NCBI36]
Chr3:3q25.1-25.2		 likely pathogenic
GRCh38/hg38 3q25.1(chr3:151396286-151842231)x1 copy number loss See cases [RCV000141551] Chr3:151396286..151842231 [GRCh38]
Chr3:151114074..151560019 [GRCh37]
Chr3:152596764..153042709 [NCBI36]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1 copy number loss See cases [RCV000447056] Chr3:148425748..153220169 [GRCh37]
Chr3:3q24-25.2		 pathogenic
GRCh37/hg19 3q24-26.2(chr3:147180945-168415875)x1 copy number loss See cases [RCV000448130] Chr3:147180945..168415875 [GRCh37]
Chr3:3q24-26.2		 pathogenic
GRCh37/hg19 3q25.1(chr3:150915867-151163492)x3 copy number gain See cases [RCV000448228] Chr3:150915867..151163492 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2498T>C (p.Met833Thr) single nucleotide variant not specified [RCV004295044] Chr3:151447483 [GRCh38]
Chr3:151165271 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1 copy number loss See cases [RCV000510834] Chr3:150352753..153522663 [GRCh37]
Chr3:3q25.1-25.2		 likely pathogenic
NM_178822.5(IGSF10):c.3491G>A (p.Arg1164His) single nucleotide variant not specified [RCV004321958] Chr3:151446490 [GRCh38]
Chr3:151164278 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.895A>G (p.Ser299Gly) single nucleotide variant not specified [RCV004311355] Chr3:151449086 [GRCh38]
Chr3:151166874 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_178822.5(IGSF10):c.5860A>T (p.Asn1954Tyr) single nucleotide variant not provided [RCV003565640]|not specified [RCV004295592] Chr3:151443087 [GRCh38]
Chr3:151160875 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_178822.5(IGSF10):c.98G>A (p.Cys33Tyr) single nucleotide variant not specified [RCV004304347] Chr3:151458612 [GRCh38]
Chr3:151176400 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_178822.5(IGSF10):c.6189C>T (p.Ser2063=) single nucleotide variant not provided [RCV000948661] Chr3:151438372 [GRCh38]
Chr3:151156160 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4564G>A (p.Val1522Ile) single nucleotide variant IGSF10-related disorder [RCV003962893]|not provided [RCV000972396] Chr3:151445417 [GRCh38]
Chr3:151163205 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4109C>T (p.Thr1370Ile) single nucleotide variant IGSF10-related disorder [RCV003962894]|not provided [RCV000972397] Chr3:151445872 [GRCh38]
Chr3:151163660 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4104C>T (p.Phe1368=) single nucleotide variant IGSF10-related disorder [RCV003943217]|not provided [RCV000972398] Chr3:151445877 [GRCh38]
Chr3:151163665 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.396A>G (p.Thr132=) single nucleotide variant IGSF10-related disorder [RCV003972935]|not provided [RCV000972400] Chr3:151453703 [GRCh38]
Chr3:151171491 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.7350_7353dup (p.Leu2452fs) duplication not provided [RCV000884483] Chr3:151437207..151437208 [GRCh38]
Chr3:151154995..151154996 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.467G>A (p.Arg156His) single nucleotide variant not provided [RCV000884484] Chr3:151453632 [GRCh38]
Chr3:151171420 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6336G>T (p.Ala2112=) single nucleotide variant not provided [RCV000923411] Chr3:151438225 [GRCh38]
Chr3:151156013 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.5307A>G (p.Ala1769=) single nucleotide variant IGSF10-related disorder [RCV003903180]|not provided [RCV000948662] Chr3:151443640 [GRCh38]
Chr3:151161428 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.5405A>T (p.Asp1802Val) single nucleotide variant IGSF10-related disorder [RCV003918463]|not provided [RCV000971357] Chr3:151443542 [GRCh38]
Chr3:151161330 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg) single nucleotide variant IGSF10-related disorder [RCV003935926]|Premature ovarian failure [RCV001002737]|not provided [RCV000960017] Chr3:151447744 [GRCh38]
Chr3:151165532 [GRCh37]
Chr3:3q25.1		 benign|uncertain significance
NM_178822.5(IGSF10):c.7840G>A (p.Asp2614Asn) single nucleotide variant IGSF10-related disorder [RCV003940379]|not provided [RCV000879548] Chr3:151436721 [GRCh38]
Chr3:151154509 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4804G>T (p.Glu1602Ter) single nucleotide variant not provided [RCV000902154] Chr3:151445177 [GRCh38]
Chr3:151162965 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7305T>C (p.Leu2435=) single nucleotide variant IGSF10-related disorder [RCV003928471]|not provided [RCV000969879] Chr3:151437256 [GRCh38]
Chr3:151155044 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.7152A>G (p.Gln2384=) single nucleotide variant IGSF10-related disorder [RCV003970667]|not provided [RCV000946771] Chr3:151437409 [GRCh38]
Chr3:151155197 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.371C>T (p.Thr124Ile) single nucleotide variant IGSF10-related disorder [RCV003916223]|not provided [RCV000966889] Chr3:151453728 [GRCh38]
Chr3:151171516 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.2878G>C (p.Glu960Gln) single nucleotide variant IGSF10-related disorder [RCV003972934]|not provided [RCV000972399] Chr3:151447103 [GRCh38]
Chr3:151164891 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.6336G>A (p.Ala2112=) single nucleotide variant IGSF10-related disorder [RCV003962926]|not provided [RCV000975016] Chr3:151438225 [GRCh38]
Chr3:151156013 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3095G>A (p.Arg1032Gln) single nucleotide variant not provided [RCV000886485] Chr3:151446886 [GRCh38]
Chr3:151164674 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.1720G>A (p.Glu574Lys) single nucleotide variant IGSF10-related disorder [RCV003940733]|not provided [RCV000893093] Chr3:151448261 [GRCh38]
Chr3:151166049 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.7374A>G (p.Gly2458=) single nucleotide variant not provided [RCV000965659] Chr3:151437187 [GRCh38]
Chr3:151154975 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.2126G>T (p.Gly709Val) single nucleotide variant IGSF10-related disorder [RCV003950503]|not provided [RCV000897948] Chr3:151447855 [GRCh38]
Chr3:151165643 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2210_2211del (p.Arg736_Phe737insTer) deletion IGSF10-related disorder [RCV003930480]|not provided [RCV000879377] Chr3:151447770..151447771 [GRCh38]
Chr3:151165558..151165559 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.516A>G (p.Thr172=) single nucleotide variant not provided [RCV000906077] Chr3:151453583 [GRCh38]
Chr3:151171371 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1869A>G (p.Lys623=) single nucleotide variant IGSF10-related disorder [RCV003968169]|not provided [RCV000894476] Chr3:151448112 [GRCh38]
Chr3:151165900 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2942C>T (p.Thr981Met) single nucleotide variant IGSF10-related disorder [RCV003940811]|not provided [RCV000897947] Chr3:151447039 [GRCh38]
Chr3:151164827 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3477C>T (p.Asn1159=) single nucleotide variant IGSF10-related disorder [RCV003930843]|not provided [RCV000893452] Chr3:151446504 [GRCh38]
Chr3:151164292 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5306C>G (p.Ala1769Gly) single nucleotide variant not specified [RCV004319882] Chr3:151443641 [GRCh38]
Chr3:151161429 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4473G>A (p.Ala1491=) single nucleotide variant not provided [RCV000938763] Chr3:151445508 [GRCh38]
Chr3:151163296 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2943G>C (p.Thr981=) single nucleotide variant not provided [RCV000915018] Chr3:151447038 [GRCh38]
Chr3:151164826 [GRCh37]
Chr3:3q25.1		 likely benign
GRCh37/hg19 3q25.1(chr3:150534295-151213925)x3 copy number gain not provided [RCV001005478] Chr3:150534295..151213925 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4304C>T (p.Thr1435Ile) single nucleotide variant not specified [RCV004308422] Chr3:151445677 [GRCh38]
Chr3:151163465 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7477A>G (p.Ile2493Val) single nucleotide variant not specified [RCV004289230] Chr3:151437084 [GRCh38]
Chr3:151154872 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1105G>A (p.Gly369Ser) single nucleotide variant not provided [RCV003106800] Chr3:151448876 [GRCh38]
Chr3:151166664 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2091A>G (p.Gln697=) single nucleotide variant IGSF10-related disorder [RCV003968454]|not provided [RCV001677777] Chr3:151447890 [GRCh38]
Chr3:151165678 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.2148_2151del (p.Ser716fs) deletion not provided [RCV000886486] Chr3:151447830..151447833 [GRCh38]
Chr3:151165618..151165621 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1782del (p.Cys595fs) deletion not provided [RCV000911013] Chr3:151448199 [GRCh38]
Chr3:151165987 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6483T>C (p.Leu2161=) single nucleotide variant IGSF10-related disorder [RCV003915810]|not provided [RCV000952845] Chr3:151438078 [GRCh38]
Chr3:151155866 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.875G>A (p.Ser292Asn) single nucleotide variant IGSF10-related disorder [RCV003968243]|not provided [RCV000900428]|not specified [RCV004028501] Chr3:151449106 [GRCh38]
Chr3:151166894 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.325-3T>C single nucleotide variant IGSF10-related disorder [RCV003895565]|not provided [RCV000916358] Chr3:151453777 [GRCh38]
Chr3:151171565 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7254C>T (p.Gly2418=) single nucleotide variant IGSF10-related disorder [RCV003928472]|not provided [RCV000969880] Chr3:151437307 [GRCh38]
Chr3:151155095 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.3712A>G (p.Thr1238Ala) single nucleotide variant IGSF10-related disorder [RCV003928473]|not provided [RCV000969881] Chr3:151446269 [GRCh38]
Chr3:151164057 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.4146C>T (p.Ala1382=) single nucleotide variant IGSF10-related disorder [RCV003978246]|not provided [RCV000953206] Chr3:151445835 [GRCh38]
Chr3:151163623 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.4636C>T (p.Leu1546=) single nucleotide variant IGSF10-related disorder [RCV003968004]|not provided [RCV000882238] Chr3:151445345 [GRCh38]
Chr3:151163133 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.7568T>C (p.Ile2523Thr) single nucleotide variant IGSF10-related disorder [RCV003902834]|not provided [RCV000908158] Chr3:151436993 [GRCh38]
Chr3:151154781 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.6447C>T (p.Thr2149=) single nucleotide variant IGSF10-related disorder [RCV003958268]|not provided [RCV000908159] Chr3:151438114 [GRCh38]
Chr3:151155902 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.1751_1752del (p.Thr584fs) microsatellite not provided [RCV000931350] Chr3:151448229..151448230 [GRCh38]
Chr3:151166017..151166018 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1999C>A (p.Gln667Lys) single nucleotide variant IGSF10-related disorder [RCV003918525]|not provided [RCV000973349] Chr3:151447982 [GRCh38]
Chr3:151165770 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.7348C>T (p.Leu2450=) single nucleotide variant IGSF10-related disorder [RCV003915902]|not provided [RCV000956147] Chr3:151437213 [GRCh38]
Chr3:151155001 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.7217C>T (p.Ala2406Val) single nucleotide variant not provided [RCV000934438] Chr3:151437344 [GRCh38]
Chr3:151155132 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4596C>T (p.Ala1532=) single nucleotide variant IGSF10-related disorder [RCV003930800]|not provided [RCV000891378] Chr3:151445385 [GRCh38]
Chr3:151163173 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.353G>A (p.Arg118Gln) single nucleotide variant IGSF10-related disorder [RCV003950753]|not provided [RCV000911983] Chr3:151453746 [GRCh38]
Chr3:151171534 [GRCh37]
Chr3:3q25.1		 likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
NM_178822.5(IGSF10):c.3193T>C (p.Ser1065Pro) single nucleotide variant not specified [RCV004308263] Chr3:151446788 [GRCh38]
Chr3:151164576 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7849del (p.Ala2617fs) deletion Premature ovarian failure [RCV001002746] Chr3:151436712 [GRCh38]
Chr3:151154500 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3 copy number gain See cases [RCV001194586] Chr3:138145289..162275610 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1 copy number loss not provided [RCV001005477] Chr3:149404255..152786331 [GRCh37]
Chr3:3q25.1-25.2		 pathogenic
GRCh37/hg19 3q25.1(chr3:150898920-151165339)x3 copy number gain not provided [RCV001259243] Chr3:150898920..151165339 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q25.1(chr3:150922637-151168813)x3 copy number gain not provided [RCV001259244] Chr3:150922637..151168813 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699) copy number gain Global developmental delay [RCV001352648] Chr3:138173683..162494699 [GRCh37]
Chr3:3q22.3-26.1		 pathogenic
GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3 copy number gain Brachycephaly [RCV001801182] Chr3:142729607..157921084 [GRCh37]
Chr3:3q23-25.32		 pathogenic
GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1 copy number loss not provided [RCV001795847] Chr3:143439359..165252122 [GRCh37]
Chr3:3q24-26.1		 pathogenic
NM_178822.5(IGSF10):c.2427G>A (p.Pro809=) single nucleotide variant not provided [RCV001982635] Chr3:151447554 [GRCh38]
Chr3:151165342 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5921T>C (p.Met1974Thr) single nucleotide variant not provided [RCV002006236] Chr3:151443026 [GRCh38]
Chr3:151160814 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7567_7570dup (p.Val2524fs) duplication not provided [RCV001950749] Chr3:151436990..151436991 [GRCh38]
Chr3:151154778..151154779 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5696A>G (p.Asn1899Ser) single nucleotide variant not provided [RCV001895829] Chr3:151443251 [GRCh38]
Chr3:151161039 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.656A>G (p.Asn219Ser) single nucleotide variant not provided [RCV001915150] Chr3:151453443 [GRCh38]
Chr3:151171231 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4073C>G (p.Pro1358Arg) single nucleotide variant not provided [RCV002002965]|not specified [RCV004042490] Chr3:151445908 [GRCh38]
Chr3:151163696 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6581C>T (p.Ala2194Val) single nucleotide variant not provided [RCV002020611] Chr3:151437980 [GRCh38]
Chr3:151155768 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q25.1-25.2(chr3:151147204-154845718) copy number loss not specified [RCV002053377] Chr3:151147204..154845718 [GRCh37]
Chr3:3q25.1-25.2		 uncertain significance
NM_178822.5(IGSF10):c.2587A>G (p.Thr863Ala) single nucleotide variant not provided [RCV001928284] Chr3:151447394 [GRCh38]
Chr3:151165182 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5837C>T (p.Ala1946Val) single nucleotide variant not provided [RCV001892888] Chr3:151443110 [GRCh38]
Chr3:151160898 [GRCh37]
Chr3:3q25.1		 uncertain significance
GRCh37/hg19 3q24-25.33(chr3:145486960-160504834) copy number gain not specified [RCV002053375] Chr3:145486960..160504834 [GRCh37]
Chr3:3q24-25.33		 pathogenic
NM_178822.5(IGSF10):c.1806T>G (p.Asp602Glu) single nucleotide variant not provided [RCV001957258] Chr3:151448175 [GRCh38]
Chr3:151165963 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1641C>T (p.Gly547=) single nucleotide variant not provided [RCV001972083] Chr3:151448340 [GRCh38]
Chr3:151166128 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_178822.5(IGSF10):c.6634_6635del (p.Val2212fs) deletion not provided [RCV001907008] Chr3:151437926..151437927 [GRCh38]
Chr3:151155714..151155715 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7079C>T (p.Ser2360Phe) single nucleotide variant not provided [RCV001977959] Chr3:151437482 [GRCh38]
Chr3:151155270 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4748T>C (p.Ile1583Thr) single nucleotide variant not provided [RCV001916966]|not specified [RCV004044111] Chr3:151445233 [GRCh38]
Chr3:151163021 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1666T>G (p.Tyr556Asp) single nucleotide variant not provided [RCV001991538] Chr3:151448315 [GRCh38]
Chr3:151166103 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7715C>T (p.Thr2572Met) single nucleotide variant not provided [RCV001898520]|not specified [RCV004041522] Chr3:151436846 [GRCh38]
Chr3:151154634 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_178822.5(IGSF10):c.5988C>A (p.Tyr1996Ter) single nucleotide variant not provided [RCV002015982] Chr3:151438573 [GRCh38]
Chr3:151156361 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6977T>C (p.Val2326Ala) single nucleotide variant not provided [RCV001866882] Chr3:151437584 [GRCh38]
Chr3:151155372 [GRCh37]
Chr3:3q25.1		 uncertain significance
NC_000003.11:g.(?_148447967)_(151176497_?)del deletion Glycogen storage disease XV [RCV003120787] Chr3:148447967..151176497 [GRCh37]
Chr3:3q24-25.1		 pathogenic
NM_178822.5(IGSF10):c.2318A>G (p.Glu773Gly) single nucleotide variant not provided [RCV001876542] Chr3:151447663 [GRCh38]
Chr3:151165451 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.558C>A (p.Phe186Leu) single nucleotide variant not provided [RCV002013588] Chr3:151453541 [GRCh38]
Chr3:151171329 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3097C>T (p.Arg1033Trp) single nucleotide variant not provided [RCV002012626] Chr3:151446884 [GRCh38]
Chr3:151164672 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3062G>A (p.Arg1021Gln) single nucleotide variant not provided [RCV002014575] Chr3:151446919 [GRCh38]
Chr3:151164707 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3889A>G (p.Met1297Val) single nucleotide variant not provided [RCV002012888] Chr3:151446092 [GRCh38]
Chr3:151163880 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2250A>G (p.Arg750=) single nucleotide variant not provided [RCV002127691] Chr3:151447731 [GRCh38]
Chr3:151165519 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2528C>G (p.Ser843Cys) single nucleotide variant not provided [RCV002148962] Chr3:151447453 [GRCh38]
Chr3:151165241 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.526T>C (p.Leu176=) single nucleotide variant IGSF10-related disorder [RCV003916355]|not provided [RCV002185656] Chr3:151453573 [GRCh38]
Chr3:151171361 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.1991T>C (p.Met664Thr) single nucleotide variant IGSF10-related disorder [RCV003923661]|not provided [RCV002124738] Chr3:151447990 [GRCh38]
Chr3:151165778 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.7101T>G (p.Pro2367=) single nucleotide variant not provided [RCV002124893] Chr3:151437460 [GRCh38]
Chr3:151155248 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.5063-8C>A single nucleotide variant not provided [RCV002084950] Chr3:151443892 [GRCh38]
Chr3:151161680 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.108T>C (p.Tyr36=) single nucleotide variant IGSF10-related disorder [RCV003933339]|not provided [RCV002209944] Chr3:151458602 [GRCh38]
Chr3:151176390 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.7683A>G (p.Thr2561=) single nucleotide variant IGSF10-related disorder [RCV003978683]|not provided [RCV002129592] Chr3:151436878 [GRCh38]
Chr3:151154666 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.6591T>G (p.Ser2197=) single nucleotide variant IGSF10-related disorder [RCV003978699]|not provided [RCV002129812] Chr3:151437970 [GRCh38]
Chr3:151155758 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.5363C>G (p.Ser1788Ter) single nucleotide variant not provided [RCV002145069] Chr3:151443584 [GRCh38]
Chr3:151161372 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5973C>T (p.Ser1991=) single nucleotide variant not provided [RCV002079359] Chr3:151438588 [GRCh38]
Chr3:151156376 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5623T>C (p.Tyr1875His) single nucleotide variant IGSF10-related disorder [RCV003923481]|not provided [RCV002170876] Chr3:151443324 [GRCh38]
Chr3:151161112 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.7735C>T (p.His2579Tyr) single nucleotide variant IGSF10-related disorder [RCV003978775]|not provided [RCV002173781] Chr3:151436826 [GRCh38]
Chr3:151154614 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3321G>A (p.Gln1107=) single nucleotide variant IGSF10-related disorder [RCV003913573]|not provided [RCV002197458] Chr3:151446660 [GRCh38]
Chr3:151164448 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7539T>C (p.Gly2513=) single nucleotide variant not provided [RCV002106957] Chr3:151437022 [GRCh38]
Chr3:151154810 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6966C>T (p.Ser2322=) single nucleotide variant IGSF10-related disorder [RCV003978847]|not provided [RCV002131604] Chr3:151437595 [GRCh38]
Chr3:151155383 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3797C>G (p.Thr1266Ser) single nucleotide variant IGSF10-related disorder [RCV003933439]|not provided [RCV002115619] Chr3:151446184 [GRCh38]
Chr3:151163972 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3931A>G (p.Ile1311Val) single nucleotide variant IGSF10-related disorder [RCV003923615]|not provided [RCV002113478] Chr3:151446050 [GRCh38]
Chr3:151163838 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.2852C>A (p.Thr951Lys) single nucleotide variant IGSF10-related disorder [RCV003913660]|not provided [RCV002095954] Chr3:151447129 [GRCh38]
Chr3:151164917 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.7426A>T (p.Arg2476Trp) single nucleotide variant not provided [RCV002188629] Chr3:151437135 [GRCh38]
Chr3:151154923 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.1347G>A (p.Gln449=) single nucleotide variant IGSF10-related disorder [RCV003978757]|not provided [RCV002149489] Chr3:151448634 [GRCh38]
Chr3:151166422 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4607T>C (p.Ile1536Thr) single nucleotide variant not provided [RCV002199371] Chr3:151445374 [GRCh38]
Chr3:151163162 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.6729C>T (p.Asn2243=) single nucleotide variant IGSF10-related disorder [RCV003978714]|not provided [RCV002117959] Chr3:151437832 [GRCh38]
Chr3:151155620 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3357A>G (p.Val1119=) single nucleotide variant not provided [RCV002141845] Chr3:151446624 [GRCh38]
Chr3:151164412 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6647G>A (p.Arg2216Gln) single nucleotide variant not provided [RCV002142643] Chr3:151437914 [GRCh38]
Chr3:151155702 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2355A>G (p.Gln785=) single nucleotide variant not provided [RCV002217035] Chr3:151447626 [GRCh38]
Chr3:151165414 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.481G>A (p.Glu161Lys) single nucleotide variant IGSF10-related disorder [RCV003978776]|not provided [RCV002084093] Chr3:151453618 [GRCh38]
Chr3:151171406 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.1711C>T (p.Pro571Ser) single nucleotide variant IGSF10-related disorder [RCV003978502]|not provided [RCV002156944] Chr3:151448270 [GRCh38]
Chr3:151166058 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.448T>G (p.Tyr150Asp) single nucleotide variant IGSF10-related disorder [RCV003984228]|not provided [RCV002119337] Chr3:151453651 [GRCh38]
Chr3:151171439 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.345T>C (p.Asn115=) single nucleotide variant IGSF10-related disorder [RCV003978684]|not provided [RCV002122620] Chr3:151453754 [GRCh38]
Chr3:151171542 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3595T>G (p.Ser1199Ala) single nucleotide variant IGSF10-related disorder [RCV003978768]|not provided [RCV002157765] Chr3:151446386 [GRCh38]
Chr3:151164174 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.5799A>G (p.Thr1933=) single nucleotide variant not provided [RCV002084477] Chr3:151443148 [GRCh38]
Chr3:151160936 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.456C>A (p.Leu152=) single nucleotide variant not provided [RCV002178525] Chr3:151453643 [GRCh38]
Chr3:151171431 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3756C>T (p.Phe1252=) single nucleotide variant not provided [RCV002163397] Chr3:151446225 [GRCh38]
Chr3:151164013 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.6967G>A (p.Val2323Met) single nucleotide variant not provided [RCV003112407]|not specified [RCV004244628] Chr3:151437594 [GRCh38]
Chr3:151155382 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7096C>T (p.Pro2366Ser) single nucleotide variant not provided [RCV003115904] Chr3:151437465 [GRCh38]
Chr3:151155253 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4906C>T (p.Pro1636Ser) single nucleotide variant not provided [RCV003118417] Chr3:151445075 [GRCh38]
Chr3:151162863 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.896G>A (p.Ser299Asn) single nucleotide variant not specified [RCV004311356] Chr3:151449085 [GRCh38]
Chr3:151166873 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6536C>G (p.Ser2179Cys) single nucleotide variant not specified [RCV004299770] Chr3:151438025 [GRCh38]
Chr3:151155813 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3856A>G (p.Lys1286Glu) single nucleotide variant IGSF10-related disorder [RCV003906414]|not provided [RCV002967533] Chr3:151446125 [GRCh38]
Chr3:151163913 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.182G>A (p.Arg61His) single nucleotide variant Martsolf syndrome 1 [RCV002305663]|not specified [RCV004047256] Chr3:151458528 [GRCh38]
Chr3:151176316 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2658C>T (p.Thr886=) single nucleotide variant not provided [RCV002858234] Chr3:151447323 [GRCh38]
Chr3:151165111 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV002993970]|not specified [RCV004065263] Chr3:151458663 [GRCh38]
Chr3:151176451 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1696A>G (p.Ile566Val) single nucleotide variant not specified [RCV004084067] Chr3:151448285 [GRCh38]
Chr3:151166073 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1847A>G (p.Tyr616Cys) single nucleotide variant not specified [RCV004084068] Chr3:151448134 [GRCh38]
Chr3:151165922 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7311T>C (p.Tyr2437=) single nucleotide variant not provided [RCV002971149] Chr3:151437250 [GRCh38]
Chr3:151155038 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3449T>C (p.Ile1150Thr) single nucleotide variant not specified [RCV004181060] Chr3:151446532 [GRCh38]
Chr3:151164320 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6503A>C (p.Asp2168Ala) single nucleotide variant not specified [RCV004095083] Chr3:151438058 [GRCh38]
Chr3:151155846 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5636C>G (p.Ser1879Cys) single nucleotide variant not provided [RCV004696266]|not specified [RCV004236084] Chr3:151443311 [GRCh38]
Chr3:151161099 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4903C>G (p.Leu1635Val) single nucleotide variant not specified [RCV004142733] Chr3:151445078 [GRCh38]
Chr3:151162866 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.173A>G (p.Asn58Ser) single nucleotide variant not specified [RCV004199426] Chr3:151458537 [GRCh38]
Chr3:151176325 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.398G>A (p.Arg133Gln) single nucleotide variant not specified [RCV004153035] Chr3:151453701 [GRCh38]
Chr3:151171489 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6634G>A (p.Val2212Ile) single nucleotide variant not specified [RCV004139191] Chr3:151437927 [GRCh38]
Chr3:151155715 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3975C>G (p.Phe1325Leu) single nucleotide variant not specified [RCV004199427] Chr3:151446006 [GRCh38]
Chr3:151163794 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.755C>T (p.Ala252Val) single nucleotide variant not specified [RCV004199428] Chr3:151449226 [GRCh38]
Chr3:151167014 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3446C>G (p.Ser1149Cys) single nucleotide variant not provided [RCV002681674] Chr3:151446535 [GRCh38]
Chr3:151164323 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3418G>A (p.Gly1140Ser) single nucleotide variant not specified [RCV004147994] Chr3:151446563 [GRCh38]
Chr3:151164351 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2647C>A (p.Gln883Lys) single nucleotide variant not specified [RCV004141614] Chr3:151447334 [GRCh38]
Chr3:151165122 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2477G>C (p.Arg826Thr) single nucleotide variant not specified [RCV004205134] Chr3:151447504 [GRCh38]
Chr3:151165292 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7294C>A (p.Pro2432Thr) single nucleotide variant not specified [RCV004186078] Chr3:151437267 [GRCh38]
Chr3:151155055 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1286dup (p.Leu429fs) duplication not provided [RCV002842968] Chr3:151448694..151448695 [GRCh38]
Chr3:151166482..151166483 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3854C>G (p.Thr1285Arg) single nucleotide variant not provided [RCV002882277] Chr3:151446127 [GRCh38]
Chr3:151163915 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5114A>G (p.Asn1705Ser) single nucleotide variant not specified [RCV004148115] Chr3:151443833 [GRCh38]
Chr3:151161621 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.821C>T (p.Ala274Val) single nucleotide variant not provided [RCV002975327] Chr3:151449160 [GRCh38]
Chr3:151166948 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1251C>T (p.Asn417=) single nucleotide variant not provided [RCV002881251] Chr3:151448730 [GRCh38]
Chr3:151166518 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2210T>C (p.Phe737Ser) single nucleotide variant not provided [RCV003738308]|not specified [RCV004090074] Chr3:151447771 [GRCh38]
Chr3:151165559 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6772C>T (p.His2258Tyr) single nucleotide variant not provided [RCV002614158] Chr3:151437789 [GRCh38]
Chr3:151155577 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3025C>T (p.Arg1009Cys) single nucleotide variant not provided [RCV002903465] Chr3:151446956 [GRCh38]
Chr3:151164744 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.4147G>A (p.Glu1383Lys) single nucleotide variant not specified [RCV004220123] Chr3:151445834 [GRCh38]
Chr3:151163622 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3102T>G (p.His1034Gln) single nucleotide variant not specified [RCV004137296] Chr3:151446879 [GRCh38]
Chr3:151164667 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4576C>T (p.Pro1526Ser) single nucleotide variant not provided [RCV002726854] Chr3:151445405 [GRCh38]
Chr3:151163193 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2663A>C (p.Gln888Pro) single nucleotide variant IGSF10-related disorder [RCV003963565]|not provided [RCV003032565] Chr3:151447318 [GRCh38]
Chr3:151165106 [GRCh37]
Chr3:3q25.1		 benign|likely benign
NM_178822.5(IGSF10):c.1519G>A (p.Val507Met) single nucleotide variant not specified [RCV004186632] Chr3:151448462 [GRCh38]
Chr3:151166250 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3574A>G (p.Ile1192Val) single nucleotide variant not provided [RCV002928045]|not specified [RCV004067039] Chr3:151446407 [GRCh38]
Chr3:151164195 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_178822.5(IGSF10):c.1104C>T (p.Tyr368=) single nucleotide variant not provided [RCV002736007] Chr3:151448877 [GRCh38]
Chr3:151166665 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2383G>A (p.Asp795Asn) single nucleotide variant IGSF10-related disorder [RCV003936340]|not provided [RCV002912676] Chr3:151447598 [GRCh38]
Chr3:151165386 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.3014C>T (p.Pro1005Leu) single nucleotide variant not provided [RCV002800358] Chr3:151446967 [GRCh38]
Chr3:151164755 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.613G>T (p.Val205Phe) single nucleotide variant not specified [RCV004192530] Chr3:151453486 [GRCh38]
Chr3:151171274 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3796A>T (p.Thr1266Ser) single nucleotide variant not specified [RCV004227666] Chr3:151446185 [GRCh38]
Chr3:151163973 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2863C>G (p.Gln955Glu) single nucleotide variant not provided [RCV002622185] Chr3:151447118 [GRCh38]
Chr3:151164906 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.715+1G>C single nucleotide variant not provided [RCV002740176] Chr3:151453383 [GRCh38]
Chr3:151171171 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6686A>C (p.Asp2229Ala) single nucleotide variant not provided [RCV002658520] Chr3:151437875 [GRCh38]
Chr3:151155663 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7854G>A (p.Thr2618=) single nucleotide variant not provided [RCV002637707] Chr3:151436707 [GRCh38]
Chr3:151154495 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5964-17dup duplication not provided [RCV002781135] Chr3:151438613..151438614 [GRCh38]
Chr3:151156401..151156402 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.823G>A (p.Ala275Thr) single nucleotide variant not provided [RCV003561144]|not specified [RCV004201898] Chr3:151449158 [GRCh38]
Chr3:151166946 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5012A>C (p.Glu1671Ala) single nucleotide variant not provided [RCV003035468] Chr3:151444969 [GRCh38]
Chr3:151162757 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4737A>T (p.Pro1579=) single nucleotide variant IGSF10-related disorder [RCV003926625]|not provided [RCV002976257] Chr3:151445244 [GRCh38]
Chr3:151163032 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.4898A>G (p.Lys1633Arg) single nucleotide variant not specified [RCV004123863] Chr3:151445083 [GRCh38]
Chr3:151162871 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7429C>T (p.Pro2477Ser) single nucleotide variant not provided [RCV002658916] Chr3:151437132 [GRCh38]
Chr3:151154920 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2315G>A (p.Arg772Gln) single nucleotide variant not specified [RCV004217368] Chr3:151447666 [GRCh38]
Chr3:151165454 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.4352C>A (p.Thr1451Lys) single nucleotide variant not specified [RCV004119085] Chr3:151445629 [GRCh38]
Chr3:151163417 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7342G>T (p.Glu2448Ter) single nucleotide variant not provided [RCV002870859] Chr3:151437219 [GRCh38]
Chr3:151155007 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2921C>A (p.Thr974Asn) single nucleotide variant not specified [RCV004083981] Chr3:151447060 [GRCh38]
Chr3:151164848 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2474C>T (p.Ser825Phe) single nucleotide variant not provided [RCV003018799] Chr3:151447507 [GRCh38]
Chr3:151165295 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5635T>G (p.Ser1879Ala) single nucleotide variant not provided [RCV002620549] Chr3:151443312 [GRCh38]
Chr3:151161100 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7715C>G (p.Thr2572Arg) single nucleotide variant not specified [RCV004083304] Chr3:151436846 [GRCh38]
Chr3:151154634 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5062+5G>A single nucleotide variant IGSF10-related disorder [RCV003906413]|not provided [RCV002949710] Chr3:151444914 [GRCh38]
Chr3:151162702 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.7124A>G (p.Asn2375Ser) single nucleotide variant not specified [RCV004225037] Chr3:151437437 [GRCh38]
Chr3:151155225 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1093A>G (p.Asn365Asp) single nucleotide variant not specified [RCV004214689] Chr3:151448888 [GRCh38]
Chr3:151166676 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1031C>T (p.Ala344Val) single nucleotide variant not specified [RCV004207815] Chr3:151448950 [GRCh38]
Chr3:151166738 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6450C>A (p.Asn2150Lys) single nucleotide variant not specified [RCV004162610] Chr3:151438111 [GRCh38]
Chr3:151155899 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2900A>G (p.Asn967Ser) single nucleotide variant not specified [RCV004153526] Chr3:151447081 [GRCh38]
Chr3:151164869 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2790T>A (p.Asp930Glu) single nucleotide variant not specified [RCV004133297] Chr3:151447191 [GRCh38]
Chr3:151164979 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1426T>C (p.Ser476Pro) single nucleotide variant not specified [RCV004154239] Chr3:151448555 [GRCh38]
Chr3:151166343 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2360C>T (p.Pro787Leu) single nucleotide variant not provided [RCV002909971] Chr3:151447621 [GRCh38]
Chr3:151165409 [GRCh37]
Chr3:3q25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_178822.5(IGSF10):c.3605A>G (p.Lys1202Arg) single nucleotide variant not specified [RCV004135876] Chr3:151446376 [GRCh38]
Chr3:151164164 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7334_7336dup (p.Ile2445_Ser2446insIle) duplication not provided [RCV002917899] Chr3:151437224..151437225 [GRCh38]
Chr3:151155012..151155013 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.352C>T (p.Arg118Ter) single nucleotide variant not provided [RCV002664324] Chr3:151453747 [GRCh38]
Chr3:151171535 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4307T>C (p.Ile1436Thr) single nucleotide variant not specified [RCV004204578] Chr3:151445674 [GRCh38]
Chr3:151163462 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5602G>A (p.Gly1868Arg) single nucleotide variant not specified [RCV004156569] Chr3:151443345 [GRCh38]
Chr3:151161133 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5062+20T>A single nucleotide variant not provided [RCV002572784] Chr3:151444899 [GRCh38]
Chr3:151162687 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.658C>T (p.Pro220Ser) single nucleotide variant not provided [RCV002872753] Chr3:151453441 [GRCh38]
Chr3:151171229 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3068T>C (p.Ile1023Thr) single nucleotide variant not specified [RCV004114780] Chr3:151446913 [GRCh38]
Chr3:151164701 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3140C>T (p.Ser1047Phe) single nucleotide variant not specified [RCV004079509] Chr3:151446841 [GRCh38]
Chr3:151164629 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7853C>T (p.Thr2618Met) single nucleotide variant not specified [RCV004201353] Chr3:151436708 [GRCh38]
Chr3:151154496 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6908_6909del (p.Val2303fs) microsatellite not provided [RCV002890678] Chr3:151437652..151437653 [GRCh38]
Chr3:151155440..151155441 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7837A>G (p.Ser2613Gly) single nucleotide variant not specified [RCV004243908] Chr3:151436724 [GRCh38]
Chr3:151154512 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3591G>C (p.Arg1197Ser) single nucleotide variant not specified [RCV004195594] Chr3:151446390 [GRCh38]
Chr3:151164178 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.969G>T (p.Gln323His) single nucleotide variant not provided [RCV002893961] Chr3:151449012 [GRCh38]
Chr3:151166800 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1609G>C (p.Glu537Gln) single nucleotide variant not specified [RCV004170467] Chr3:151448372 [GRCh38]
Chr3:151166160 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4417A>G (p.Met1473Val) single nucleotide variant not provided [RCV002928357]|not specified [RCV004067152] Chr3:151445564 [GRCh38]
Chr3:151163352 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2165G>A (p.Arg722Gln) single nucleotide variant IGSF10-related disorder [RCV003936341]|not provided [RCV002890747] Chr3:151447816 [GRCh38]
Chr3:151165604 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.1382C>T (p.Pro461Leu) single nucleotide variant IGSF10-related disorder [RCV003936342]|not provided [RCV002890748] Chr3:151448599 [GRCh38]
Chr3:151166387 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.2081C>T (p.Pro694Leu) single nucleotide variant not specified [RCV004154358] Chr3:151447900 [GRCh38]
Chr3:151165688 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7450A>G (p.Ile2484Val) single nucleotide variant not provided [RCV003334080]|not specified [RCV004246817] Chr3:151437111 [GRCh38]
Chr3:151154899 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3104G>C (p.Arg1035Thr) single nucleotide variant IGSF10-related disorder [RCV003963415]|not provided [RCV002918646] Chr3:151446877 [GRCh38]
Chr3:151164665 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1525T>C (p.Trp509Arg) single nucleotide variant not specified [RCV004108884] Chr3:151448456 [GRCh38]
Chr3:151166244 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2095C>T (p.Arg699Cys) single nucleotide variant not specified [RCV004231565] Chr3:151447886 [GRCh38]
Chr3:151165674 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3727C>G (p.Pro1243Ala) single nucleotide variant not specified [RCV004177822] Chr3:151446254 [GRCh38]
Chr3:151164042 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6927C>T (p.Ala2309=) single nucleotide variant not provided [RCV002918709] Chr3:151437634 [GRCh38]
Chr3:151155422 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7151A>G (p.Gln2384Arg) single nucleotide variant not provided [RCV002642495]|not specified [RCV004066653] Chr3:151437410 [GRCh38]
Chr3:151155198 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2744A>G (p.His915Arg) single nucleotide variant not specified [RCV004137601] Chr3:151447237 [GRCh38]
Chr3:151165025 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3202C>T (p.Pro1068Ser) single nucleotide variant not specified [RCV004157882] Chr3:151446779 [GRCh38]
Chr3:151164567 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1645T>C (p.Tyr549His) single nucleotide variant not provided [RCV002633080] Chr3:151448336 [GRCh38]
Chr3:151166124 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2565A>G (p.Glu855=) single nucleotide variant not provided [RCV002582078] Chr3:151447416 [GRCh38]
Chr3:151165204 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5233C>T (p.Pro1745Ser) single nucleotide variant not specified [RCV004094860] Chr3:151443714 [GRCh38]
Chr3:151161502 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5278G>T (p.Gly1760Ter) single nucleotide variant not provided [RCV002967382] Chr3:151443669 [GRCh38]
Chr3:151161457 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1660A>G (p.Ser554Gly) single nucleotide variant not specified [RCV004177330] Chr3:151448321 [GRCh38]
Chr3:151166109 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.518T>C (p.Phe173Ser) single nucleotide variant not specified [RCV004130300] Chr3:151453581 [GRCh38]
Chr3:151171369 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7246A>C (p.Lys2416Gln) single nucleotide variant not specified [RCV004155255] Chr3:151437315 [GRCh38]
Chr3:151155103 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5051G>C (p.Arg1684Thr) single nucleotide variant not provided [RCV002628927]|not specified [RCV004070734] Chr3:151444930 [GRCh38]
Chr3:151162718 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5774C>T (p.Ser1925Leu) single nucleotide variant not specified [RCV004078759] Chr3:151443173 [GRCh38]
Chr3:151160961 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3971C>T (p.Thr1324Ile) single nucleotide variant not specified [RCV004198039] Chr3:151446010 [GRCh38]
Chr3:151163798 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7586G>A (p.Arg2529Gln) single nucleotide variant not provided [RCV002600526] Chr3:151436975 [GRCh38]
Chr3:151154763 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6431G>A (p.Arg2144Lys) single nucleotide variant not provided [RCV003062986] Chr3:151438130 [GRCh38]
Chr3:151155918 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3145A>G (p.Lys1049Glu) single nucleotide variant not provided [RCV002597811] Chr3:151446836 [GRCh38]
Chr3:151164624 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.404A>C (p.His135Pro) single nucleotide variant not provided [RCV002715664] Chr3:151453695 [GRCh38]
Chr3:151171483 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7080T>C (p.Ser2360=) single nucleotide variant IGSF10-related disorder [RCV003936381]|not provided [RCV002922233] Chr3:151437481 [GRCh38]
Chr3:151155269 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3695C>T (p.Ala1232Val) single nucleotide variant not specified [RCV004134678] Chr3:151446286 [GRCh38]
Chr3:151164074 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3536C>T (p.Ser1179Leu) single nucleotide variant not provided [RCV003011297]|not specified [RCV004068443] Chr3:151446445 [GRCh38]
Chr3:151164233 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4631C>T (p.Ser1544Phe) single nucleotide variant not specified [RCV004190282] Chr3:151445350 [GRCh38]
Chr3:151163138 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1372A>G (p.Ile458Val) single nucleotide variant IGSF10-related disorder [RCV003943614]|not provided [RCV002938903] Chr3:151448609 [GRCh38]
Chr3:151166397 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.6565A>G (p.Arg2189Gly) single nucleotide variant not specified [RCV004207816] Chr3:151437996 [GRCh38]
Chr3:151155784 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7279G>A (p.Glu2427Lys) single nucleotide variant not specified [RCV004101626] Chr3:151437282 [GRCh38]
Chr3:151155070 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7229G>A (p.Arg2410His) single nucleotide variant not provided [RCV002606380]|not specified [RCV004068954] Chr3:151437332 [GRCh38]
Chr3:151155120 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1389A>C (p.Ala463=) single nucleotide variant not provided [RCV002943292] Chr3:151448592 [GRCh38]
Chr3:151166380 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2351C>T (p.Thr784Ile) single nucleotide variant not specified [RCV004221929] Chr3:151447630 [GRCh38]
Chr3:151165418 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4451G>C (p.Arg1484Thr) single nucleotide variant not provided [RCV002607670] Chr3:151445530 [GRCh38]
Chr3:151163318 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3733_3734del (p.Asp1245fs) microsatellite not provided [RCV002725670] Chr3:151446247..151446248 [GRCh38]
Chr3:151164035..151164036 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6006T>G (p.Phe2002Leu) single nucleotide variant IGSF10-related disorder [RCV003961268]|not provided [RCV002943291] Chr3:151438555 [GRCh38]
Chr3:151156343 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_178822.5(IGSF10):c.4065G>C (p.Arg1355Ser) single nucleotide variant not provided [RCV002943907] Chr3:151445916 [GRCh38]
Chr3:151163704 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.5718C>T (p.Asn1906=) single nucleotide variant not provided [RCV002943906] Chr3:151443229 [GRCh38]
Chr3:151161017 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.461T>G (p.Phe154Cys) single nucleotide variant not provided [RCV002611940] Chr3:151453638 [GRCh38]
Chr3:151171426 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1931G>A (p.Arg644His) single nucleotide variant not provided [RCV002588124] Chr3:151448050 [GRCh38]
Chr3:151165838 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2003G>A (p.Arg668Lys) single nucleotide variant not specified [RCV004333605] Chr3:151447978 [GRCh38]
Chr3:151165766 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6731G>C (p.Arg2244Thr) single nucleotide variant not specified [RCV004280993] Chr3:151437830 [GRCh38]
Chr3:151155618 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1573G>C (p.Asp525His) single nucleotide variant not specified [RCV004253136] Chr3:151448408 [GRCh38]
Chr3:151166196 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3817A>G (p.Thr1273Ala) single nucleotide variant not specified [RCV004280352] Chr3:151446164 [GRCh38]
Chr3:151163952 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.501G>A (p.Lys167=) single nucleotide variant not provided [RCV003223148] Chr3:151453598 [GRCh38]
Chr3:151171386 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.299C>T (p.Thr100Ile) single nucleotide variant not specified [RCV004272062] Chr3:151457051 [GRCh38]
Chr3:151174839 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5758A>G (p.Thr1920Ala) single nucleotide variant not specified [RCV004253803] Chr3:151443189 [GRCh38]
Chr3:151160977 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5167T>C (p.Cys1723Arg) single nucleotide variant not specified [RCV004268601] Chr3:151443780 [GRCh38]
Chr3:151161568 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7273A>C (p.Ile2425Leu) single nucleotide variant not provided [RCV003730432]|not specified [RCV004250945] Chr3:151437288 [GRCh38]
Chr3:151155076 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2404C>G (p.Leu802Val) single nucleotide variant not specified [RCV004267706] Chr3:151447577 [GRCh38]
Chr3:151165365 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5618G>C (p.Ser1873Thr) single nucleotide variant not specified [RCV004299151] Chr3:151443329 [GRCh38]
Chr3:151161117 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2600C>T (p.Thr867Ile) single nucleotide variant not specified [RCV004331742] Chr3:151447381 [GRCh38]
Chr3:151165169 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4486G>A (p.Gly1496Arg) single nucleotide variant not specified [RCV004346074] Chr3:151445495 [GRCh38]
Chr3:151163283 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6133T>C (p.Tyr2045His) single nucleotide variant not specified [RCV004348313] Chr3:151438428 [GRCh38]
Chr3:151156216 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7607G>A (p.Arg2536Lys) single nucleotide variant not specified [RCV004343776] Chr3:151436954 [GRCh38]
Chr3:151154742 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1421T>C (p.Met474Thr) single nucleotide variant not specified [RCV004345881] Chr3:151448560 [GRCh38]
Chr3:151166348 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.803C>T (p.Pro268Leu) single nucleotide variant not specified [RCV004356267] Chr3:151449178 [GRCh38]
Chr3:151166966 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7860T>G (p.Ile2620Met) single nucleotide variant not specified [RCV004364003] Chr3:151436701 [GRCh38]
Chr3:151154489 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1006A>G (p.Lys336Glu) single nucleotide variant not specified [RCV004365669] Chr3:151448975 [GRCh38]
Chr3:151166763 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3199C>G (p.Leu1067Val) single nucleotide variant not specified [RCV004358720] Chr3:151446782 [GRCh38]
Chr3:151164570 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7179T>A (p.Asn2393Lys) single nucleotide variant not specified [RCV004338482] Chr3:151437382 [GRCh38]
Chr3:151155170 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6746C>A (p.Ala2249Asp) single nucleotide variant not specified [RCV004345160] Chr3:151437815 [GRCh38]
Chr3:151155603 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3756C>G (p.Phe1252Leu) single nucleotide variant not specified [RCV004343930] Chr3:151446225 [GRCh38]
Chr3:151164013 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3967_3969del (p.Pro1323del) deletion not provided [RCV003543208] Chr3:151446012..151446014 [GRCh38]
Chr3:151163800..151163802 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7565T>A (p.Met2522Lys) single nucleotide variant not provided [RCV003571126] Chr3:151436996 [GRCh38]
Chr3:151154784 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5775G>A (p.Ser1925=) single nucleotide variant not provided [RCV003875234] Chr3:151443172 [GRCh38]
Chr3:151160960 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.804G>A (p.Pro268=) single nucleotide variant not provided [RCV003880637] Chr3:151449177 [GRCh38]
Chr3:151166965 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6073G>C (p.Asp2025His) single nucleotide variant IGSF10-related disorder [RCV003418891] Chr3:151438488 [GRCh38]
Chr3:151156276 [GRCh37]
Chr3:3q25.1		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
GRCh37/hg19 3q25.1(chr3:151150422-151674799)x3 copy number gain not provided [RCV003484148] Chr3:151150422..151674799 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1518C>T (p.His506=) single nucleotide variant not provided [RCV003437976] Chr3:151448463 [GRCh38]
Chr3:151166251 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3834_3835del (p.His1278fs) microsatellite IGSF10-related disorder [RCV003421128] Chr3:151446146..151446147 [GRCh38]
Chr3:151163934..151163935 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5374C>T (p.Gln1792Ter) single nucleotide variant not provided [RCV003437973] Chr3:151443573 [GRCh38]
Chr3:151161361 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4997C>G (p.Ala1666Gly) single nucleotide variant not provided [RCV003437974]|not specified [RCV004364593] Chr3:151444984 [GRCh38]
Chr3:151162772 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4468G>A (p.Val1490Met) single nucleotide variant not provided [RCV003437975] Chr3:151445513 [GRCh38]
Chr3:151163301 [GRCh37]
Chr3:3q25.1		 likely benign|conflicting interpretations of pathogenicity
NM_178822.5(IGSF10):c.1535C>G (p.Ala512Gly) single nucleotide variant not provided [RCV003434778] Chr3:151448446 [GRCh38]
Chr3:151166234 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2045A>G (p.Asp682Gly) single nucleotide variant not provided [RCV003545247] Chr3:151447936 [GRCh38]
Chr3:151165724 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.4225A>G (p.Ser1409Gly) single nucleotide variant not provided [RCV003662302] Chr3:151445756 [GRCh38]
Chr3:151163544 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1930C>T (p.Arg644Cys) single nucleotide variant not provided [RCV003739070] Chr3:151448051 [GRCh38]
Chr3:151165839 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.620A>G (p.Tyr207Cys) single nucleotide variant not provided [RCV003578068] Chr3:151453479 [GRCh38]
Chr3:151171267 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.467G>T (p.Arg156Leu) single nucleotide variant not provided [RCV003544868] Chr3:151453632 [GRCh38]
Chr3:151171420 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3752A>C (p.His1251Pro) single nucleotide variant not provided [RCV003686486] Chr3:151446229 [GRCh38]
Chr3:151164017 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3856AAG[1] (p.Lys1287del) microsatellite not provided [RCV003717390] Chr3:151446120..151446122 [GRCh38]
Chr3:151163908..151163910 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2570_2571del (p.Thr857fs) microsatellite not provided [RCV003561841] Chr3:151447410..151447411 [GRCh38]
Chr3:151165198..151165199 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3248G>C (p.Ser1083Thr) single nucleotide variant not provided [RCV003840491] Chr3:151446733 [GRCh38]
Chr3:151164521 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.665C>T (p.Thr222Ile) single nucleotide variant not provided [RCV003663658] Chr3:151453434 [GRCh38]
Chr3:151171222 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6692T>G (p.Val2231Gly) single nucleotide variant not provided [RCV003672784] Chr3:151437869 [GRCh38]
Chr3:151155657 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6302A>T (p.Asn2101Ile) single nucleotide variant not provided [RCV003702034] Chr3:151438259 [GRCh38]
Chr3:151156047 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1328C>T (p.Thr443Ile) single nucleotide variant not provided [RCV003839390] Chr3:151448653 [GRCh38]
Chr3:151166441 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7726G>C (p.Glu2576Gln) single nucleotide variant not provided [RCV003561524] Chr3:151436835 [GRCh38]
Chr3:151154623 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.94C>T (p.Arg32Cys) single nucleotide variant not provided [RCV003812165] Chr3:151458616 [GRCh38]
Chr3:151176404 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7152_7153del (p.Ser2385fs) deletion not provided [RCV003840148] Chr3:151437408..151437409 [GRCh38]
Chr3:151155196..151155197 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7730G>C (p.Arg2577Thr) single nucleotide variant not provided [RCV003559051] Chr3:151436831 [GRCh38]
Chr3:151154619 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6633C>T (p.Tyr2211=) single nucleotide variant not provided [RCV003558977] Chr3:151437928 [GRCh38]
Chr3:151155716 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.2068C>A (p.Leu690Ile) single nucleotide variant not provided [RCV003559718] Chr3:151447913 [GRCh38]
Chr3:151165701 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3972C>T (p.Thr1324=) single nucleotide variant IGSF10-related disorder [RCV003929222]|not provided [RCV003548356] Chr3:151446009 [GRCh38]
Chr3:151163797 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2610G>A (p.Met870Ile) single nucleotide variant not provided [RCV003559061]|not specified [RCV004634284] Chr3:151447371 [GRCh38]
Chr3:151165159 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6231A>C (p.Gly2077=) single nucleotide variant not provided [RCV003559630] Chr3:151438330 [GRCh38]
Chr3:151156118 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7548_7551dup (p.Thr2518fs) duplication IGSF10-related disorder [RCV003929238]|not provided [RCV003554183] Chr3:151437009..151437010 [GRCh38]
Chr3:151154797..151154798 [GRCh37]
Chr3:3q25.1		 benign
NM_178822.5(IGSF10):c.7010C>T (p.Pro2337Leu) single nucleotide variant not provided [RCV003553108] Chr3:151437551 [GRCh38]
Chr3:151155339 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1477G>A (p.Val493Ile) single nucleotide variant not provided [RCV003730862]|not specified [RCV004374119] Chr3:151448504 [GRCh38]
Chr3:151166292 [GRCh37]
Chr3:3q25.1		 likely benign|uncertain significance
NM_178822.5(IGSF10):c.1024C>T (p.Pro342Ser) single nucleotide variant not provided [RCV003845816] Chr3:151448957 [GRCh38]
Chr3:151166745 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5939A>G (p.Lys1980Arg) single nucleotide variant not provided [RCV003563345] Chr3:151443008 [GRCh38]
Chr3:151160796 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5820C>A (p.Ser1940Arg) single nucleotide variant not provided [RCV003677494] Chr3:151443127 [GRCh38]
Chr3:151160915 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.765T>C (p.Cys255=) single nucleotide variant not provided [RCV003860325] Chr3:151449216 [GRCh38]
Chr3:151167004 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1212T>C (p.Tyr404=) single nucleotide variant not provided [RCV003727376] Chr3:151448769 [GRCh38]
Chr3:151166557 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.168G>A (p.Pro56=) single nucleotide variant not provided [RCV003551133] Chr3:151458542 [GRCh38]
Chr3:151176330 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5511C>A (p.Val1837=) single nucleotide variant not provided [RCV003683339] Chr3:151443436 [GRCh38]
Chr3:151161224 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5033C>T (p.Pro1678Leu) single nucleotide variant not provided [RCV003709950] Chr3:151444948 [GRCh38]
Chr3:151162736 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2185C>T (p.Arg729Cys) single nucleotide variant not provided [RCV003557177] Chr3:151447796 [GRCh38]
Chr3:151165584 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4086A>G (p.Pro1362=) single nucleotide variant not provided [RCV003686129] Chr3:151445895 [GRCh38]
Chr3:151163683 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7109T>C (p.Ile2370Thr) single nucleotide variant not provided [RCV003728343]|not specified [RCV004374105] Chr3:151437452 [GRCh38]
Chr3:151155240 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4575C>T (p.Ser1525=) single nucleotide variant not provided [RCV003720009] Chr3:151445406 [GRCh38]
Chr3:151163194 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.325-17T>C single nucleotide variant not provided [RCV003823451] Chr3:151453791 [GRCh38]
Chr3:151171579 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5173G>A (p.Ala1725Thr) single nucleotide variant not provided [RCV003719512] Chr3:151443774 [GRCh38]
Chr3:151161562 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5996dup (p.Ser2000fs) duplication not provided [RCV003737829] Chr3:151438564..151438565 [GRCh38]
Chr3:151156352..151156353 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1021T>A (p.Ser341Thr) single nucleotide variant not provided [RCV003820593] Chr3:151448960 [GRCh38]
Chr3:151166748 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1385G>A (p.Arg462Lys) single nucleotide variant not provided [RCV003868102] Chr3:151448596 [GRCh38]
Chr3:151166384 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5277C>T (p.Ser1759=) single nucleotide variant not provided [RCV003722591] Chr3:151443670 [GRCh38]
Chr3:151161458 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.369T>C (p.Asp123=) single nucleotide variant not provided [RCV003553681] Chr3:151453730 [GRCh38]
Chr3:151171518 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2977C>G (p.Gln993Glu) single nucleotide variant not provided [RCV003721394] Chr3:151447004 [GRCh38]
Chr3:151164792 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5983G>A (p.Val1995Ile) single nucleotide variant not provided [RCV003552153] Chr3:151438578 [GRCh38]
Chr3:151156366 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.5990C>T (p.Pro1997Leu) single nucleotide variant not provided [RCV003556811] Chr3:151438571 [GRCh38]
Chr3:151156359 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2885G>A (p.Ser962Asn) single nucleotide variant not provided [RCV003552423] Chr3:151447096 [GRCh38]
Chr3:151164884 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2400C>T (p.Leu800=) single nucleotide variant not provided [RCV003734947] Chr3:151447581 [GRCh38]
Chr3:151165369 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.7314A>G (p.Ala2438=) single nucleotide variant not provided [RCV003865376] Chr3:151437247 [GRCh38]
Chr3:151155035 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.4244T>C (p.Leu1415Pro) single nucleotide variant not provided [RCV003682173] Chr3:151445737 [GRCh38]
Chr3:151163525 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1297del (p.Gln433fs) deletion not provided [RCV003727089] Chr3:151448684 [GRCh38]
Chr3:151166472 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3677G>A (p.Ser1226Asn) single nucleotide variant not provided [RCV003819537] Chr3:151446304 [GRCh38]
Chr3:151164092 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.165C>G (p.Ile55Met) single nucleotide variant not provided [RCV003853896] Chr3:151458545 [GRCh38]
Chr3:151176333 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2673C>T (p.Ser891=) single nucleotide variant not provided [RCV003727302] Chr3:151447308 [GRCh38]
Chr3:151165096 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3821C>T (p.Thr1274Met) single nucleotide variant not provided [RCV003566474] Chr3:151446160 [GRCh38]
Chr3:151163948 [GRCh37]
Chr3:3q25.1		 likely benign
NM_001393769.1(MED12L):c.6495C>G (p.Asn2165Lys) single nucleotide variant Inborn genetic diseases [RCV004421752] Chr3:151432756 [GRCh38]
Chr3:151150544 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2180A>G (p.Gln727Arg) single nucleotide variant IGSF10-related disorder [RCV003942055] Chr3:151447801 [GRCh38]
Chr3:151165589 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3051C>A (p.Gly1017=) single nucleotide variant IGSF10-related disorder [RCV003926992] Chr3:151446930 [GRCh38]
Chr3:151164718 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6215G>A (p.Trp2072Ter) single nucleotide variant IGSF10-related disorder [RCV003961693] Chr3:151438346 [GRCh38]
Chr3:151156134 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2607C>T (p.Ala869=) single nucleotide variant IGSF10-related disorder [RCV003971440] Chr3:151447374 [GRCh38]
Chr3:151165162 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1671T>C (p.Asp557=) single nucleotide variant IGSF10-related disorder [RCV003924716] Chr3:151448310 [GRCh38]
Chr3:151166098 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2275C>T (p.Leu759=) single nucleotide variant IGSF10-related disorder [RCV003974246] Chr3:151447706 [GRCh38]
Chr3:151165494 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6457A>G (p.Ile2153Val) single nucleotide variant IGSF10-related disorder [RCV003904363] Chr3:151438104 [GRCh38]
Chr3:151155892 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6245A>G (p.Asn2082Ser) single nucleotide variant IGSF10-related disorder [RCV003934442] Chr3:151438316 [GRCh38]
Chr3:151156104 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.3537G>A (p.Ser1179=) single nucleotide variant IGSF10-related disorder [RCV003956713] Chr3:151446444 [GRCh38]
Chr3:151164232 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6405A>C (p.Thr2135=) single nucleotide variant IGSF10-related disorder [RCV003949116] Chr3:151438156 [GRCh38]
Chr3:151155944 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.4129C>T (p.Pro1377Ser) single nucleotide variant not specified [RCV004402693] Chr3:151445852 [GRCh38]
Chr3:151163640 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_001393769.1(MED12L):c.6537C>G (p.His2179Gln) single nucleotide variant Inborn genetic diseases [RCV003341437] Chr3:151432798 [GRCh38]
Chr3:151150586 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6938G>C (p.Cys2313Ser) single nucleotide variant not specified [RCV004402713] Chr3:151437623 [GRCh38]
Chr3:151155411 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7303C>A (p.Leu2435Ile) single nucleotide variant not specified [RCV004402717] Chr3:151437258 [GRCh38]
Chr3:151155046 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6398A>C (p.His2133Pro) single nucleotide variant not specified [RCV004402705] Chr3:151438163 [GRCh38]
Chr3:151155951 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4640T>C (p.Leu1547Ser) single nucleotide variant not specified [RCV004402694] Chr3:151445341 [GRCh38]
Chr3:151163129 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3340G>C (p.Glu1114Gln) single nucleotide variant not specified [RCV004402686] Chr3:151446641 [GRCh38]
Chr3:151164429 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3236T>C (p.Leu1079Ser) single nucleotide variant not specified [RCV004402685] Chr3:151446745 [GRCh38]
Chr3:151164533 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2633T>A (p.Met878Lys) single nucleotide variant not specified [RCV004402683] Chr3:151447348 [GRCh38]
Chr3:151165136 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2478A>C (p.Arg826Ser) single nucleotide variant not specified [RCV004402682] Chr3:151447503 [GRCh38]
Chr3:151165291 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6931T>G (p.Phe2311Val) single nucleotide variant not specified [RCV004402712] Chr3:151437630 [GRCh38]
Chr3:151155418 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.624G>A (p.Met208Ile) single nucleotide variant not specified [RCV004402704] Chr3:151453475 [GRCh38]
Chr3:151171263 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.613G>A (p.Val205Ile) single nucleotide variant not specified [RCV004402703] Chr3:151453486 [GRCh38]
Chr3:151171274 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.54C>G (p.Ile18Met) single nucleotide variant not specified [RCV004402702] Chr3:151458656 [GRCh38]
Chr3:151176444 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5497G>A (p.Val1833Ile) single nucleotide variant not specified [RCV004402701] Chr3:151443450 [GRCh38]
Chr3:151161238 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5443C>G (p.Arg1815Gly) single nucleotide variant not specified [RCV004402700] Chr3:151443504 [GRCh38]
Chr3:151161292 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5117G>C (p.Gly1706Ala) single nucleotide variant not specified [RCV004402697] Chr3:151443830 [GRCh38]
Chr3:151161618 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4946G>C (p.Arg1649Thr) single nucleotide variant not specified [RCV004402695] Chr3:151445035 [GRCh38]
Chr3:151162823 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3026G>A (p.Arg1009His) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560324] Chr3:151446955 [GRCh38]
Chr3:151164743 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.1061T>C (p.Leu354Pro) single nucleotide variant not specified [RCV004402674] Chr3:151448920 [GRCh38]
Chr3:151166708 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1268G>T (p.Arg423Ile) single nucleotide variant not specified [RCV004402675] Chr3:151448713 [GRCh38]
Chr3:151166501 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1840G>A (p.Val614Met) single nucleotide variant not specified [RCV004402677] Chr3:151448141 [GRCh38]
Chr3:151165929 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.193G>A (p.Gly65Arg) single nucleotide variant not specified [RCV004402678] Chr3:151458517 [GRCh38]
Chr3:151176305 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2047G>A (p.Glu683Lys) single nucleotide variant not specified [RCV004402679] Chr3:151447934 [GRCh38]
Chr3:151165722 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2186G>A (p.Arg729His) single nucleotide variant not specified [RCV004402680] Chr3:151447795 [GRCh38]
Chr3:151165583 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2206C>T (p.Arg736Cys) single nucleotide variant not specified [RCV004402681] Chr3:151447775 [GRCh38]
Chr3:151165563 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6560T>C (p.Ile2187Thr) single nucleotide variant not specified [RCV004402706] Chr3:151438001 [GRCh38]
Chr3:151155789 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.6650A>G (p.Asn2217Ser) single nucleotide variant not specified [RCV004402707] Chr3:151437911 [GRCh38]
Chr3:151155699 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6879T>G (p.His2293Gln) single nucleotide variant not specified [RCV004402710] Chr3:151437682 [GRCh38]
Chr3:151155470 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6880A>C (p.Lys2294Gln) single nucleotide variant not specified [RCV004402711] Chr3:151437681 [GRCh38]
Chr3:151155469 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.1628G>C (p.Ser543Thr) single nucleotide variant not specified [RCV004402676] Chr3:151448353 [GRCh38]
Chr3:151166141 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6997A>G (p.Met2333Val) single nucleotide variant not specified [RCV004402714] Chr3:151437564 [GRCh38]
Chr3:151155352 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7169T>C (p.Ile2390Thr) single nucleotide variant not specified [RCV004402715] Chr3:151437392 [GRCh38]
Chr3:151155180 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7300A>G (p.Ile2434Val) single nucleotide variant not specified [RCV004402716] Chr3:151437261 [GRCh38]
Chr3:151155049 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4064G>C (p.Arg1355Thr) single nucleotide variant not specified [RCV004402692] Chr3:151445917 [GRCh38]
Chr3:151163705 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5251C>A (p.Arg1751Ser) single nucleotide variant not specified [RCV004402699] Chr3:151443696 [GRCh38]
Chr3:151161484 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5130C>G (p.Ile1710Met) single nucleotide variant not specified [RCV004402698] Chr3:151443817 [GRCh38]
Chr3:151161605 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5096G>A (p.Arg1699Lys) single nucleotide variant not specified [RCV004402696] Chr3:151443851 [GRCh38]
Chr3:151161639 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3976C>T (p.Pro1326Ser) single nucleotide variant not specified [RCV004402691] Chr3:151446005 [GRCh38]
Chr3:151163793 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3737A>C (p.Lys1246Thr) single nucleotide variant not specified [RCV004402690] Chr3:151446244 [GRCh38]
Chr3:151164032 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3718C>T (p.Pro1240Ser) single nucleotide variant not specified [RCV004402689] Chr3:151446263 [GRCh38]
Chr3:151164051 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3715T>G (p.Ser1239Ala) single nucleotide variant not specified [RCV004402688] Chr3:151446266 [GRCh38]
Chr3:151164054 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3350C>T (p.Pro1117Leu) single nucleotide variant not specified [RCV004402687] Chr3:151446631 [GRCh38]
Chr3:151164419 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.2935A>C (p.Thr979Pro) single nucleotide variant not specified [RCV004402684] Chr3:151447046 [GRCh38]
Chr3:151164834 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3490C>T (p.Arg1164Cys) single nucleotide variant not specified [RCV004627833] Chr3:151446491 [GRCh38]
Chr3:151164279 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.89C>T (p.Pro30Leu) single nucleotide variant not specified [RCV004627834] Chr3:151458621 [GRCh38]
Chr3:151176409 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3719C>T (p.Pro1240Leu) single nucleotide variant not specified [RCV004627835] Chr3:151446262 [GRCh38]
Chr3:151164050 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6274A>G (p.Arg2092Gly) single nucleotide variant not specified [RCV004627838] Chr3:151438287 [GRCh38]
Chr3:151156075 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4177T>C (p.Phe1393Leu) single nucleotide variant not specified [RCV004627839] Chr3:151445804 [GRCh38]
Chr3:151163592 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6368A>G (p.Asn2123Ser) single nucleotide variant not specified [RCV004627840] Chr3:151438193 [GRCh38]
Chr3:151155981 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6175G>A (p.Asp2059Asn) single nucleotide variant not specified [RCV004627841] Chr3:151438386 [GRCh38]
Chr3:151156174 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.125A>C (p.His42Pro) single nucleotide variant not specified [RCV004627842] Chr3:151458585 [GRCh38]
Chr3:151176373 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4720C>A (p.Gln1574Lys) single nucleotide variant not specified [RCV004626365] Chr3:151445261 [GRCh38]
Chr3:151163049 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5524C>T (p.Pro1842Ser) single nucleotide variant not specified [RCV004627828] Chr3:151443423 [GRCh38]
Chr3:151161211 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5513T>C (p.Ile1838Thr) single nucleotide variant not specified [RCV004627829] Chr3:151443434 [GRCh38]
Chr3:151161222 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5810G>A (p.Arg1937Gln) single nucleotide variant not specified [RCV004627830] Chr3:151443137 [GRCh38]
Chr3:151160925 [GRCh37]
Chr3:3q25.1		 likely benign
NM_178822.5(IGSF10):c.2452G>T (p.Ala818Ser) single nucleotide variant not specified [RCV004627831] Chr3:151447529 [GRCh38]
Chr3:151165317 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3865C>T (p.Leu1289Phe) single nucleotide variant not specified [RCV004627832] Chr3:151446116 [GRCh38]
Chr3:151163904 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4375C>T (p.His1459Tyr) single nucleotide variant not specified [RCV004627836] Chr3:151445606 [GRCh38]
Chr3:151163394 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5146C>G (p.Gln1716Glu) single nucleotide variant not specified [RCV004627837] Chr3:151443801 [GRCh38]
Chr3:151161589 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3533C>T (p.Thr1178Ile) single nucleotide variant not specified [RCV004627820] Chr3:151446448 [GRCh38]
Chr3:151164236 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4138A>G (p.Thr1380Ala) single nucleotide variant not specified [RCV004627821] Chr3:151445843 [GRCh38]
Chr3:151163631 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6335C>T (p.Ala2112Val) single nucleotide variant not specified [RCV004627822] Chr3:151438226 [GRCh38]
Chr3:151156014 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6566G>A (p.Arg2189Lys) single nucleotide variant not specified [RCV004627823] Chr3:151437995 [GRCh38]
Chr3:151155783 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.7346C>T (p.Ser2449Phe) single nucleotide variant not specified [RCV004627824] Chr3:151437215 [GRCh38]
Chr3:151155003 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.5407G>A (p.Gly1803Arg) single nucleotide variant not specified [RCV004627826] Chr3:151443540 [GRCh38]
Chr3:151161328 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.3661A>G (p.Asn1221Asp) single nucleotide variant not specified [RCV004627827] Chr3:151446320 [GRCh38]
Chr3:151164108 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.6539A>G (p.Asn2180Ser) single nucleotide variant IGSF10-related disorder [RCV004731406] Chr3:151438022 [GRCh38]
Chr3:151155810 [GRCh37]
Chr3:3q25.1		 uncertain significance
NM_178822.5(IGSF10):c.4154C>G (p.Ser1385Ter) single nucleotide variant IGSF10-related disorder [RCV004757087] Chr3:151445827 [GRCh38]
Chr3:151163615 [GRCh37]
Chr3:3q25.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1515
Count of miRNA genes:847
Interacting mature miRNAs:972
Transcripts:ENST00000282466, ENST00000489791, ENST00000493841, ENST00000495443, ENST00000497472
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407126855GWAS775831_Hcoronary artery disease QTL GWAS775831 (human)0.000001coronary artery disease3151504657151504658Human
407128128GWAS777104_Hcoronary artery disease QTL GWAS777104 (human)0.000008coronary artery disease3151484399151484400Human
407128129GWAS777105_Hcoronary artery disease QTL GWAS777105 (human)0.000005coronary artery disease3151484841151484842Human
407128130GWAS777106_Hcoronary artery disease QTL GWAS777106 (human)0.000002coronary artery disease3151485248151485249Human
407128131GWAS777107_Hcoronary artery disease QTL GWAS777107 (human)0.000003coronary artery disease3151485319151485320Human
407126860GWAS775836_Hcoronary artery disease QTL GWAS775836 (human)0.0000006coronary artery disease3151505080151505081Human
407126862GWAS775838_Hcoronary artery disease QTL GWAS775838 (human)0.0000006coronary artery disease3151505249151505250Human
407126863GWAS775839_Hcoronary artery disease QTL GWAS775839 (human)0.000007coronary artery disease3151505267151505268Human
407126857GWAS775833_Hcoronary artery disease QTL GWAS775833 (human)0.000002coronary artery disease3151504658151504659Human
407126859GWAS775835_Hcoronary artery disease QTL GWAS775835 (human)0.0000007coronary artery disease3151504899151504900Human
407126865GWAS775841_Hcoronary artery disease QTL GWAS775841 (human)0.0000006coronary artery disease3151505528151505529Human
407126866GWAS775842_Hcoronary artery disease QTL GWAS775842 (human)0.0000005coronary artery disease3151505644151505645Human
407124076GWAS773052_Hcoronary artery disease QTL GWAS773052 (human)0.0000005coronary artery disease3151504554151504555Human
1300026BP36_HBlood pressure QTL 36 (human)4.04Blood pressurehypertension susceptibility3135720453161720453Human
407124077GWAS773053_Hcoronary artery disease QTL GWAS773053 (human)0.0000006coronary artery disease3151504576151504577Human
407124078GWAS773054_Hcoronary artery disease QTL GWAS773054 (human)0.000001coronary artery disease3151504653151504654Human
407124079GWAS773055_Hcoronary artery disease QTL GWAS773055 (human)0.000001coronary artery disease3151504654151504655Human
407124075GWAS773051_Hcoronary artery disease QTL GWAS773051 (human)0.0000009coronary artery disease3151504474151504475Human
407128436GWAS777412_Hcoronary artery disease QTL GWAS777412 (human)0.0000005coronary artery disease3151485971151485973Human
407131248GWAS780224_Hosteoarthritis QTL GWAS780224 (human)0.0000004osteoarthritis3151508055151508056Human
407128433GWAS777409_Hcoronary artery disease QTL GWAS777409 (human)0.000003coronary artery disease3151487174151487175Human
407124092GWAS773068_Hcoronary artery disease QTL GWAS773068 (human)0.0000005coronary artery disease3151504153151504154Human
407123837GWAS772813_Hcoronary artery disease QTL GWAS772813 (human)0.000005coronary artery disease3151501353151501354Human
407123838GWAS772814_Hcoronary artery disease QTL GWAS772814 (human)0.0000003coronary artery disease3151501456151501458Human
407128447GWAS777423_Hcoronary artery disease QTL GWAS777423 (human)0.000007coronary artery disease3151488287151488288Human
407123839GWAS772815_Hcoronary artery disease QTL GWAS772815 (human)0.000004coronary artery disease3151501481151501482Human
407131775GWAS780751_Hosteoarthritis QTL GWAS780751 (human)0.000001osteoarthritis3151508055151508056Human
407335547GWAS984523_Hinsomnia QTL GWAS984523 (human)1e-08insomnia3151441940151441941Human
407128443GWAS777419_Hcoronary artery disease QTL GWAS777419 (human)0.000006coronary artery disease3151487188151487189Human
407257862GWAS906838_Hfacial width measurement QTL GWAS906838 (human)2e-08facial width measurement3151525395151525396Human
407127809GWAS776785_Hcoronary artery disease QTL GWAS776785 (human)0.000007coronary artery disease3151481674151481675Human
407127810GWAS776786_Hcoronary artery disease QTL GWAS776786 (human)0.000007coronary artery disease3151482031151482032Human
407127811GWAS776787_Hcoronary artery disease QTL GWAS776787 (human)0.000007coronary artery disease3151482813151482814Human
407128111GWAS777087_Hcoronary artery disease QTL GWAS777087 (human)0.000007coronary artery disease3151482898151482899Human
407128113GWAS777089_Hcoronary artery disease QTL GWAS777089 (human)0.000007coronary artery disease3151482937151482938Human
407128124GWAS777100_Hcoronary artery disease QTL GWAS777100 (human)0.000007coronary artery disease3151483898151483899Human
407128126GWAS777102_Hcoronary artery disease QTL GWAS777102 (human)0.000005coronary artery disease3151483986151483987Human
407128120GWAS777096_Hcoronary artery disease QTL GWAS777096 (human)0.000006coronary artery disease3151483172151483173Human
407128123GWAS777099_Hcoronary artery disease QTL GWAS777099 (human)0.000007coronary artery disease3151483581151483582Human
407125956GWAS774932_Hcoronary artery disease QTL GWAS774932 (human)0.000007coronary artery disease3151526927151526928Human
407125952GWAS774928_Hcoronary artery disease QTL GWAS774928 (human)0.000008coronary artery disease3151515953151515954Human
407125954GWAS774930_Hcoronary artery disease QTL GWAS774930 (human)0.000007coronary artery disease3151516710151516711Human
407125955GWAS774931_Hcoronary artery disease QTL GWAS774931 (human)0.000004coronary artery disease3151517908151517909Human
407127508GWAS776484_Hcoronary artery disease QTL GWAS776484 (human)0.0000008coronary artery disease3151508436151508437Human
406970064GWAS619040_Htrait in response to efavirenz, virologic response measurement QTL GWAS619040 (human)0.000005trait in response to abacavir, virologic response measurement3151465283151465284Human
407127510GWAS776486_Hcoronary artery disease QTL GWAS776486 (human)0.000006coronary artery disease3151508953151508954Human
407124688GWAS773664_Hcoronary artery disease QTL GWAS773664 (human)0.000002coronary artery disease3151497761151497762Human
407127507GWAS776483_Hcoronary artery disease QTL GWAS776483 (human)0.0000008coronary artery disease3151507584151507585Human
407124700GWAS773676_Hcoronary artery disease QTL GWAS773676 (human)0.000001coronary artery disease3151496261151496262Human
407122911GWAS771887_Hcoronary artery disease QTL GWAS771887 (human)0.0000008coronary artery disease3151500950151500951Human
407124696GWAS773672_Hcoronary artery disease QTL GWAS773672 (human)0.000002coronary artery disease3151498087151498088Human
407127513GWAS776489_Hcoronary artery disease QTL GWAS776489 (human)0.000006coronary artery disease3151509832151509833Human
407124698GWAS773674_Hcoronary artery disease QTL GWAS773674 (human)0.000003coronary artery disease3151498507151498508Human
407127514GWAS776490_Hcoronary artery disease QTL GWAS776490 (human)0.000003coronary artery disease3151510557151510558Human
407124699GWAS773675_Hcoronary artery disease QTL GWAS773675 (human)0.000003coronary artery disease3151498511151498512Human
407129069GWAS778045_Hcoronary artery disease QTL GWAS778045 (human)0.0000007coronary artery disease3151495938151495939Human
407129070GWAS778046_Hcoronary artery disease QTL GWAS778046 (human)0.0000007coronary artery disease3151495959151495960Human
407129071GWAS778047_Hcoronary artery disease QTL GWAS778047 (human)0.000004coronary artery disease3151496071151496072Human
407127798GWAS776774_Hcoronary artery disease QTL GWAS776774 (human)0.000001coronary artery disease3151471599151471600Human
407127799GWAS776775_Hcoronary artery disease QTL GWAS776775 (human)0.000001coronary artery disease3151471600151471601Human
407127805GWAS776781_Hcoronary artery disease QTL GWAS776781 (human)0.000007coronary artery disease3151479598151479599Human
407127806GWAS776782_Hcoronary artery disease QTL GWAS776782 (human)0.000007coronary artery disease3151479787151479788Human
407127807GWAS776783_Hcoronary artery disease QTL GWAS776783 (human)0.000007coronary artery disease3151480325151480326Human
407127800GWAS776776_Hcoronary artery disease QTL GWAS776776 (human)0.000003coronary artery disease3151472693151472694Human
407127801GWAS776777_Hcoronary artery disease QTL GWAS776777 (human)0.000001coronary artery disease3151477418151477419Human
407127802GWAS776778_Hcoronary artery disease QTL GWAS776778 (human)0.000005coronary artery disease3151478533151478534Human
407123844GWAS772820_Hcoronary artery disease QTL GWAS772820 (human)0.0000006coronary artery disease3151501827151501828Human
407123845GWAS772821_Hcoronary artery disease QTL GWAS772821 (human)0.0000007coronary artery disease3151502118151502119Human
407127173GWAS776149_Hcoronary artery disease QTL GWAS776149 (human)0.000002coronary artery disease3151505719151505720Human
407123846GWAS772822_Hcoronary artery disease QTL GWAS772822 (human)0.0000008coronary artery disease3151502169151502170Human
407123847GWAS772823_Hcoronary artery disease QTL GWAS772823 (human)0.0000007coronary artery disease3151502275151502276Human
407127175GWAS776151_Hcoronary artery disease QTL GWAS776151 (human)0.0000006coronary artery disease3151505765151505766Human
407128448GWAS777424_Hcoronary artery disease QTL GWAS777424 (human)0.000009coronary artery disease3151488498151488499Human
407128449GWAS777425_Hcoronary artery disease QTL GWAS777425 (human)0.000006coronary artery disease3151489214151489215Human
407123842GWAS772818_Hcoronary artery disease QTL GWAS772818 (human)0.0000008coronary artery disease3151501543151501544Human
407127170GWAS776146_Hcoronary artery disease QTL GWAS776146 (human)0.000002coronary artery disease3151505718151505719Human
407123843GWAS772819_Hcoronary artery disease QTL GWAS772819 (human)0.0000006coronary artery disease3151501576151501577Human
407123852GWAS772828_Hcoronary artery disease QTL GWAS772828 (human)0.0000007coronary artery disease3151503453151503454Human
407127180GWAS776156_Hcoronary artery disease QTL GWAS776156 (human)0.0000008coronary artery disease3151506192151506193Human
407123853GWAS772829_Hcoronary artery disease QTL GWAS772829 (human)0.0000007coronary artery disease3151503621151503622Human
407127181GWAS776157_Hcoronary artery disease QTL GWAS776157 (human)0.0000008coronary artery disease3151506445151506446Human
407127182GWAS776158_Hcoronary artery disease QTL GWAS776158 (human)0.0000009coronary artery disease3151506500151506501Human
407127183GWAS776159_Hcoronary artery disease QTL GWAS776159 (human)0.0000008coronary artery disease3151506720151506721Human
407123848GWAS772824_Hcoronary artery disease QTL GWAS772824 (human)0.0000007coronary artery disease3151502398151502399Human
407127177GWAS776153_Hcoronary artery disease QTL GWAS776153 (human)0.000002coronary artery disease3151505982151505983Human
407127178GWAS776154_Hcoronary artery disease QTL GWAS776154 (human)0.000002coronary artery disease3151506011151506012Human
407123851GWAS772827_Hcoronary artery disease QTL GWAS772827 (human)0.0000006coronary artery disease3151503136151503137Human
407127179GWAS776155_Hcoronary artery disease QTL GWAS776155 (human)0.0000008coronary artery disease3151506106151506107Human
407123856GWAS772832_Hcoronary artery disease QTL GWAS772832 (human)0.0000005coronary artery disease3151503965151503966Human
407127184GWAS776160_Hcoronary artery disease QTL GWAS776160 (human)0.0000008coronary artery disease3151506827151506828Human
407127185GWAS776161_Hcoronary artery disease QTL GWAS776161 (human)0.0000008coronary artery disease3151507333151507334Human
407341468GWAS990444_Hsleep duration QTL GWAS990444 (human)0.000004sleep duration3151535059151535060Human
407124898GWAS773874_Hcoronary artery disease QTL GWAS773874 (human)0.0000008coronary artery disease3151498692151498693Human
407124908GWAS773884_Hcoronary artery disease QTL GWAS773884 (human)0.0000008coronary artery disease3151499645151499646Human
407128749GWAS777725_Hcoronary artery disease QTL GWAS777725 (human)0.00001coronary artery disease3151490256151490257Human
407128750GWAS777726_Hcoronary artery disease QTL GWAS777726 (human)0.00001coronary artery disease3151491125151491126Human
407124907GWAS773883_Hcoronary artery disease QTL GWAS773883 (human)0.0000007coronary artery disease3151499521151499522Human
407128756GWAS777732_Hcoronary artery disease QTL GWAS777732 (human)0.000005coronary artery disease3151492745151492750Human
407128758GWAS777734_Hcoronary artery disease QTL GWAS777734 (human)0.000005coronary artery disease3151493542151493543Human
407128759GWAS777735_Hcoronary artery disease QTL GWAS777735 (human)0.0000007coronary artery disease3151493997151493998Human
407289778GWAS938754_Hbody height QTL GWAS938754 (human)5e-10body height (VT:0001253)body height (CMO:0000106)3151442793151442794Human
407128752GWAS777728_Hcoronary artery disease QTL GWAS777728 (human)0.000003coronary artery disease3151491568151491569Human
407124912GWAS773888_Hcoronary artery disease QTL GWAS773888 (human)0.000001coronary artery disease3151499717151499718Human
407128753GWAS777729_Hcoronary artery disease QTL GWAS777729 (human)0.000003coronary artery disease3151491569151491570Human
407128754GWAS777730_Hcoronary artery disease QTL GWAS777730 (human)0.000006coronary artery disease3151491733151491734Human
407128755GWAS777731_Hcoronary artery disease QTL GWAS777731 (human)0.0000005coronary artery disease3151491997151492002Human
407125949GWAS774925_Hcoronary artery disease QTL GWAS774925 (human)0.000004coronary artery disease3151514118151514119Human
407128766GWAS777742_Hcoronary artery disease QTL GWAS777742 (human)0.0000007coronary artery disease3151495906151495907Human
407125950GWAS774926_Hcoronary artery disease QTL GWAS774926 (human)0.000005coronary artery disease3151515070151515071Human
407125951GWAS774927_Hcoronary artery disease QTL GWAS774927 (human)0.000005coronary artery disease3151515905151515906Human
1298415BP24_HBlood pressure QTL 24 (human)2.9Blood pressurehypertension susceptibility3135720453161720453Human
407128760GWAS777736_Hcoronary artery disease QTL GWAS777736 (human)0.0000007coronary artery disease3151494271151494272Human
407128761GWAS777737_Hcoronary artery disease QTL GWAS777737 (human)0.0000007coronary artery disease3151494993151494994Human
407128762GWAS777738_Hcoronary artery disease QTL GWAS777738 (human)0.000002coronary artery disease3151495399151495400Human
407128763GWAS777739_Hcoronary artery disease QTL GWAS777739 (human)0.0000007coronary artery disease3151495847151495848Human
407125947GWAS774923_Hcoronary artery disease QTL GWAS774923 (human)0.0000009coronary artery disease3151511363151511364Human

Markers in Region
RH98359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373151,154,391 - 151,154,539UniSTSGRCh37
Build 363152,637,081 - 152,637,229RGDNCBI36
Celera3149,572,722 - 149,572,870RGD
Cytogenetic Map3q25.1UniSTS
HuRef3148,533,751 - 148,533,899UniSTS
GeneMap99-GB4 RH Map3554.51UniSTS
RH103111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373151,153,813 - 151,153,950UniSTSGRCh37
Build 363152,636,503 - 152,636,640RGDNCBI36
Celera3149,572,144 - 149,572,281RGD
Cytogenetic Map3q25.1UniSTS
HuRef3148,533,173 - 148,533,310UniSTS
GeneMap99-GB4 RH Map3554.51UniSTS
G54366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373151,153,341 - 151,153,478UniSTSGRCh37
Build 363152,636,031 - 152,636,168RGDNCBI36
Celera3149,571,668 - 149,571,809RGD
Cytogenetic Map3q25.1UniSTS
HuRef3148,532,697 - 148,532,838UniSTS
SHGC-145600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373151,156,781 - 151,157,051UniSTSGRCh37
Build 363152,639,471 - 152,639,741RGDNCBI36
Celera3149,575,112 - 149,575,382RGD
Cytogenetic Map3q25.1UniSTS
HuRef3148,536,141 - 148,536,411UniSTS
TNG Radiation Hybrid Map386178.0UniSTS
IGSF10__6450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373151,154,279 - 151,155,053UniSTSGRCh37
Build 363152,636,969 - 152,637,743RGDNCBI36
Celera3149,572,610 - 149,573,384RGD
HuRef3148,533,639 - 148,534,413UniSTS


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 2357 2785 2227 4908 1640 2185 2 560 1352 402 2252 6437 5849 43 3688 707 1676 1525 167

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001178145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_178822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC024886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY273815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB051634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB054913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000282466   ⟹   ENSP00000282466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3151,436,203 - 151,461,061 (-)Ensembl
Ensembl Acc Id: ENST00000489791   ⟹   ENSP00000417627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3151,425,384 - 151,443,150 (-)Ensembl
Ensembl Acc Id: ENST00000493841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3151,436,523 - 151,440,780 (-)Ensembl
Ensembl Acc Id: ENST00000495443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3151,436,541 - 151,440,771 (-)Ensembl
Ensembl Acc Id: ENST00000497472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3151,432,710 - 151,436,922 (-)Ensembl
RefSeq Acc Id: NM_001178145   ⟹   NP_001171616
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,440,780 (-)NCBI
GRCh373151,153,778 - 151,179,272 (-)NCBI
Celera3149,572,109 - 149,594,842 (-)RGD
HuRef3148,533,138 - 148,555,872 (-)ENTREZGENE
CHM1_13151,116,911 - 151,121,713 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,197,802 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001178146   ⟹   NP_001171617
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,440,780 (-)NCBI
GRCh373151,153,778 - 151,179,272 (-)NCBI
Celera3149,572,109 - 149,594,842 (-)RGD
HuRef3148,533,138 - 148,555,872 (-)ENTREZGENE
CHM1_13151,116,911 - 151,121,713 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,197,802 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385060   ⟹   NP_001371989
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,539,316 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,296,319 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385061   ⟹   NP_001371990
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,539,316 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,296,319 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385062   ⟹   NP_001371991
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,539,316 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,296,319 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385063   ⟹   NP_001371992
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,539,316 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,296,319 (-)NCBI
Sequence:
RefSeq Acc Id: NM_178822   ⟹   NP_849144
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,461,061 (-)NCBI
GRCh373151,153,778 - 151,179,272 (-)NCBI
Build 363152,637,167 - 152,659,187 (-)NCBI Archive
Celera3149,572,109 - 149,594,842 (-)RGD
HuRef3148,533,138 - 148,555,872 (-)ENTREZGENE
CHM1_13151,116,911 - 151,139,641 (-)NCBI
T2T-CHM13v2.03154,193,223 - 154,218,097 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512708   ⟹   XP_011511010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,539,316 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512709   ⟹   XP_011511011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,619,925 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448011   ⟹   XP_047303967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,460,732 (-)NCBI
RefSeq Acc Id: XM_047448012   ⟹   XP_047303968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,523 - 151,460,732 (-)NCBI
RefSeq Acc Id: XM_047448013   ⟹   XP_047303969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,460,732 (-)NCBI
RefSeq Acc Id: XM_047448014   ⟹   XP_047303970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,523 - 151,460,732 (-)NCBI
RefSeq Acc Id: XM_047448015   ⟹   XP_047303971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,432,432 - 151,460,732 (-)NCBI
RefSeq Acc Id: XM_047448016   ⟹   XP_047303972
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,436,203 - 151,443,703 (-)NCBI
RefSeq Acc Id: XM_054346297   ⟹   XP_054202272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03154,193,223 - 154,376,990 (-)NCBI
RefSeq Acc Id: XM_054346298   ⟹   XP_054202273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03154,193,223 - 154,376,990 (-)NCBI
RefSeq Acc Id: XM_054346299   ⟹   XP_054202274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03154,193,223 - 154,200,738 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001171616 (Get FASTA)   NCBI Sequence Viewer  
  NP_001171617 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371989 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001371992 (Get FASTA)   NCBI Sequence Viewer  
  NP_849144 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511010 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511011 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303967 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303968 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303969 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303970 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303971 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303972 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202272 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202274 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH31063 (Get FASTA)   NCBI Sequence Viewer  
  AAH45734 (Get FASTA)   NCBI Sequence Viewer  
  AAQ16156 (Get FASTA)   NCBI Sequence Viewer  
  BAC04042 (Get FASTA)   NCBI Sequence Viewer  
  BAC05429 (Get FASTA)   NCBI Sequence Viewer  
  BAC87305 (Get FASTA)   NCBI Sequence Viewer  
  EAW78798 (Get FASTA)   NCBI Sequence Viewer  
  EAW78799 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000282466
  ENSP00000282466.3
  ENSP00000417627.1
GenBank Protein Q6WRI0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_849144   ⟸   NM_178822
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N772 (UniProtKB/Swiss-Prot),   Q86YJ9 (UniProtKB/Swiss-Prot),   Q8NA84 (UniProtKB/Swiss-Prot),   Q6WRI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171616   ⟸   NM_001178145
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001171617   ⟸   NM_001178146
- Peptide Label: isoform 2
- UniProtKB: Q6WRI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511011   ⟸   XM_011512709
- Peptide Label: isoform X2
- UniProtKB: Q8N772 (UniProtKB/Swiss-Prot),   Q86YJ9 (UniProtKB/Swiss-Prot),   Q8NA84 (UniProtKB/Swiss-Prot),   Q6WRI0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511010   ⟸   XM_011512708
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000282466   ⟸   ENST00000282466
Ensembl Acc Id: ENSP00000417627   ⟸   ENST00000489791
RefSeq Acc Id: NP_001371990   ⟸   NM_001385061
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N772 (UniProtKB/Swiss-Prot),   Q86YJ9 (UniProtKB/Swiss-Prot),   Q6WRI0 (UniProtKB/Swiss-Prot),   Q8NA84 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001371989   ⟸   NM_001385060
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N772 (UniProtKB/Swiss-Prot),   Q86YJ9 (UniProtKB/Swiss-Prot),   Q6WRI0 (UniProtKB/Swiss-Prot),   Q8NA84 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001371991   ⟸   NM_001385062
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N772 (UniProtKB/Swiss-Prot),   Q86YJ9 (UniProtKB/Swiss-Prot),   Q6WRI0 (UniProtKB/Swiss-Prot),   Q8NA84 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001371992   ⟸   NM_001385063
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N772 (UniProtKB/Swiss-Prot),   Q86YJ9 (UniProtKB/Swiss-Prot),   Q6WRI0 (UniProtKB/Swiss-Prot),   Q8NA84 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047303971   ⟸   XM_047448015
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047303969   ⟸   XM_047448013
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047303967   ⟸   XM_047448011
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047303972   ⟸   XM_047448016
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047303970   ⟸   XM_047448014
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047303968   ⟸   XM_047448012
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054202273   ⟸   XM_054346298
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202272   ⟸   XM_054346297
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054202274   ⟸   XM_054346299
- Peptide Label: isoform X7
Protein Domains
Ig-like   Ig-like C2-type   LRRCT   LRRNT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6WRI0-F1-model_v2 AlphaFold Q6WRI0 1-2623 view protein structure

Promoters
RGD ID:6866024
Promoter ID:EPDNEW_H6177
Type:initiation region
Name:IGSF10_3
Description:immunoglobulin superfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6178  EPDNEW_H6179  EPDNEW_H6180  EPDNEW_H6181  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,440,780 - 151,440,840EPDNEW
RGD ID:6866026
Promoter ID:EPDNEW_H6178
Type:initiation region
Name:IGSF10_4
Description:immunoglobulin superfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6177  EPDNEW_H6179  EPDNEW_H6180  EPDNEW_H6181  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,460,368 - 151,460,428EPDNEW
RGD ID:6866028
Promoter ID:EPDNEW_H6179
Type:initiation region
Name:IGSF10_5
Description:immunoglobulin superfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6177  EPDNEW_H6178  EPDNEW_H6180  EPDNEW_H6181  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,460,728 - 151,460,788EPDNEW
RGD ID:6866030
Promoter ID:EPDNEW_H6180
Type:initiation region
Name:IGSF10_1
Description:immunoglobulin superfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6177  EPDNEW_H6178  EPDNEW_H6179  EPDNEW_H6181  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,461,057 - 151,461,117EPDNEW
RGD ID:6866032
Promoter ID:EPDNEW_H6181
Type:initiation region
Name:IGSF10_2
Description:immunoglobulin superfamily member 10
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6177  EPDNEW_H6178  EPDNEW_H6179  EPDNEW_H6180  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383151,539,266 - 151,539,326EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26384 AgrOrtholog
COSMIC IGSF10 COSMIC
Ensembl Genes ENSG00000152580 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000282466 ENTREZGENE
  ENST00000282466.4 UniProtKB/Swiss-Prot
  ENST00000489791.1 UniProtKB/TrEMBL
  ENST00000493841 ENTREZGENE
  ENST00000495443 ENTREZGENE
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000152580 GTEx
HGNC ID HGNC:26384 ENTREZGENE
Human Proteome Map IGSF10 Human Proteome Map
InterPro Cys-rich_flank_reg_C UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot
  Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRFN UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
KEGG Report hsa:285313 UniProtKB/Swiss-Prot
NCBI Gene 285313 ENTREZGENE
OMIM 617351 OMIM
PANTHER IMMUNOGLOBULIN SUPERFAMILY MEMBER 10 UniProtKB/Swiss-Prot
  SYNAPTIC ADHESION-LIKE MOLECULE SALM UniProtKB/Swiss-Prot
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_3 UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA134900760 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot
  IGv UniProtKB/Swiss-Prot
  LRR_TYP UniProtKB/Swiss-Prot
  LRRCT UniProtKB/Swiss-Prot
  LRRNT UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot
  SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7C4M2_HUMAN UniProtKB/TrEMBL
  IGS10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q86YJ9 ENTREZGENE
  Q8N772 ENTREZGENE
  Q8NA84 ENTREZGENE
UniProt Secondary Q86YJ9 UniProtKB/Swiss-Prot
  Q8N772 UniProtKB/Swiss-Prot
  Q8NA84 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 IGSF10  immunoglobulin superfamily member 10    immunoglobulin superfamily, member 10  Symbol and/or name change 5135510 APPROVED