SBF1 (SET binding factor 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: SBF1 (SET binding factor 1) Homo sapiens
Analyze
Symbol: SBF1
Name: SET binding factor 1
RGD ID: 1316075
HGNC Page HGNC:10542
Description: Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in protein dephosphorylation. Predicted to act upstream of or within spermatogenesis. Located in cytoplasm and nuclear body. Implicated in Charcot-Marie-Tooth disease type 4B3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMT4B3; DENN/MADD domain containing 7A; DENND7A; DKFZp761D0422; inactive phosphatidylinositol 3-phosphatase 5; MGC99700; MTMR5; myotubularin related 5; myotubularin-related protein 5; SET-binding factor 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SBF1P1   SBF1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,445,000 - 50,475,035 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2250,443,219 - 50,483,923 (-)EnsemblGRCh38hg38GRCh38
GRCh372250,883,429 - 50,913,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,232,101 - 49,260,320 (-)NCBINCBI36Build 36hg18NCBI36
Build 342249,175,379 - 49,203,598NCBI
Celera2234,759,447 - 34,789,477 (-)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,773,881 - 33,803,909 (-)NCBIHuRef
CHM1_12250,842,172 - 50,872,202 (-)NCBICHM1_1
T2T-CHM13v2.02250,954,193 - 50,984,219 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:9537414   PMID:9736772   PMID:10591208   PMID:10848615   PMID:11686296   PMID:11994405   PMID:12477932   PMID:12668758   PMID:14702039   PMID:15489334   PMID:16751776  
PMID:16787938   PMID:17148452   PMID:19343720   PMID:19369647   PMID:19851296   PMID:20198315   PMID:20301532   PMID:20301641   PMID:20937701   PMID:21873635   PMID:21900206   PMID:22586326  
PMID:23382691   PMID:23443559   PMID:23749797   PMID:24799518   PMID:24817947   PMID:25277244   PMID:25515538   PMID:25659891   PMID:25921289   PMID:26186194   PMID:26496610   PMID:26972000  
PMID:27432908   PMID:27880917   PMID:28005197   PMID:28065597   PMID:28514442   PMID:28561026   PMID:28675297   PMID:29467282   PMID:29509190   PMID:29568061   PMID:30039846   PMID:30442766  
PMID:31527615   PMID:31678930   PMID:31871319   PMID:32444983   PMID:32807901   PMID:33005030   PMID:33187986   PMID:33472061   PMID:33853758   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34244565   PMID:34315543   PMID:34711951   PMID:35152003   PMID:35271311  


Genomics

Comparative Map Data
SBF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382250,445,000 - 50,475,035 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2250,443,219 - 50,483,923 (-)EnsemblGRCh38hg38GRCh38
GRCh372250,883,429 - 50,913,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362249,232,101 - 49,260,320 (-)NCBINCBI36Build 36hg18NCBI36
Build 342249,175,379 - 49,203,598NCBI
Celera2234,759,447 - 34,789,477 (-)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,773,881 - 33,803,909 (-)NCBIHuRef
CHM1_12250,842,172 - 50,872,202 (-)NCBICHM1_1
T2T-CHM13v2.02250,954,193 - 50,984,219 (-)NCBIT2T-CHM13v2.0
Sbf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391589,171,138 - 89,199,514 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1589,172,439 - 89,199,514 (-)EnsemblGRCm39 Ensembl
GRCm381589,288,236 - 89,315,311 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1589,288,236 - 89,315,311 (-)EnsemblGRCm38mm10GRCm38
MGSCv371589,118,667 - 89,145,742 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361589,116,003 - 89,143,078 (-)NCBIMGSCv36mm8
Celera1591,417,161 - 91,444,411 (-)NCBICelera
Cytogenetic Map15E3NCBI
Sbf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27120,358,338 - 120,385,022 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7120,358,338 - 120,384,902 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7122,109,266 - 122,135,653 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.07124,335,424 - 124,361,811 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.07124,299,370 - 124,325,758 (-)NCBIRnor_WKY
Rnor_6.07130,261,552 - 130,288,566 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7130,261,552 - 130,288,509 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07129,946,572 - 129,973,566 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,583,779 - 127,611,043 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,618,010 - 127,636,869 (-)NCBI
Celera7116,832,006 - 116,858,717 (-)NCBICelera
Cytogenetic Map7q34NCBI
Sbf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,427,214 - 33,452,415 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,427,283 - 33,450,581 (-)NCBIChiLan1.0ChiLan1.0
SBF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12249,676,131 - 49,702,479 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,676,467 - 49,704,633 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02230,691,976 - 30,723,128 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SBF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11016,823,456 - 16,845,800 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1016,828,599 - 16,845,789 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1016,799,996 - 16,824,019 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01017,548,632 - 17,572,612 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1017,548,638 - 17,571,504 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,273,034 - 17,297,030 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01017,596,243 - 17,620,193 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01017,728,293 - 17,752,317 (+)NCBIUU_Cfam_GSD_1.0
Sbf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945367,326 - 393,355 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936629367,253 - 393,355 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SBF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5260,935 - 284,509 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15260,779 - 284,512 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,498,093 - 110,519,997 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SBF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,919,029 - 32,945,333 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1932,919,341 - 32,938,690 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604592,395,659 - 92,422,027 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sbf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752302,557 - 329,974 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624752302,589 - 329,974 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH11296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,885,263 - 50,885,364UniSTSGRCh37
Build 362249,232,129 - 49,232,230RGDNCBI36
Celera2234,761,281 - 34,761,382RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,775,715 - 33,775,816UniSTS
RH47520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,899,983 - 50,900,118UniSTSGRCh37
GRCh37856,364,938 - 56,365,076UniSTSGRCh37
Build 36856,527,492 - 56,527,630RGDNCBI36
Celera2234,775,996 - 34,776,131UniSTS
Celera852,355,310 - 52,355,448RGD
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map22q13.33UniSTS
HuRef2233,790,430 - 33,790,565UniSTS
HuRef851,832,921 - 51,833,059UniSTS
SBF1_8611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,885,234 - 50,885,656UniSTSGRCh37
Build 362249,232,100 - 49,232,522RGDNCBI36
Celera2234,761,252 - 34,761,674RGD
HuRef2233,775,686 - 33,776,108UniSTS
RH47771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,897,928 - 50,898,108UniSTSGRCh37
Build 362249,244,794 - 49,244,974RGDNCBI36
Celera2234,773,942 - 34,774,122RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,788,376 - 33,788,556UniSTS
GeneMap99-GB4 RH Map22174.97UniSTS
RH46917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,886,743 - 50,886,928UniSTSGRCh37
Build 362249,233,609 - 49,233,794RGDNCBI36
Celera2234,762,761 - 34,762,946RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,777,193 - 33,777,378UniSTS
GeneMap99-GB4 RH Map22175.02UniSTS
STS-T23637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37856,364,755 - 56,364,954UniSTSGRCh37
GRCh372250,899,118 - 50,899,999UniSTSGRCh37
Build 36856,527,309 - 56,527,508RGDNCBI36
Celera2234,775,132 - 34,776,012UniSTS
Celera852,355,127 - 52,355,326RGD
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map22q13.33UniSTS
HuRef851,832,738 - 51,832,937UniSTS
HuRef2233,789,566 - 33,790,446UniSTS
GeneMap99-GB4 RH Map8302.57UniSTS
NCBI RH Map8785.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4195
Count of miRNA genes:968
Interacting mature miRNAs:1197
Transcripts:ENST00000348911, ENST00000380817, ENST00000390679, ENST00000399627, ENST00000418590, ENST00000470434, ENST00000473724, ENST00000476293, ENST00000477234
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2432 2782 1500 400 1868 242 4356 2084 3654 358 1446 1600 175 1 1204 2788 5 1
Low 7 209 226 224 79 223 1 113 80 61 14 12 1 1
Below cutoff 3 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC087612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG766677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI821356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM975530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU931657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX341189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA868136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ570565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY035781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY036155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U93181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000348911   ⟹   ENSP00000252027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,025 (-)Ensembl
RefSeq Acc Id: ENST00000380817   ⟹   ENSP00000370196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,445,000 - 50,475,035 (-)Ensembl
RefSeq Acc Id: ENST00000399627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,466,233 - 50,474,849 (-)Ensembl
RefSeq Acc Id: ENST00000418590   ⟹   ENSP00000401538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,810 - 50,455,409 (-)Ensembl
RefSeq Acc Id: ENST00000470434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,923 - 50,460,039 (-)Ensembl
RefSeq Acc Id: ENST00000473724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,449,891 (-)Ensembl
RefSeq Acc Id: ENST00000476293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,456,589 - 50,457,347 (-)Ensembl
RefSeq Acc Id: ENST00000477234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,466,196 - 50,467,355 (-)Ensembl
RefSeq Acc Id: ENST00000684986   ⟹   ENSP00000509117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,812 - 50,475,025 (-)Ensembl
RefSeq Acc Id: ENST00000685180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,443,219 - 50,483,923 (-)Ensembl
RefSeq Acc Id: ENST00000685239   ⟹   ENSP00000509640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,464,329 - 50,465,328 (-)Ensembl
RefSeq Acc Id: ENST00000685386   ⟹   ENSP00000510338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,459,470 - 50,462,470 (-)Ensembl
RefSeq Acc Id: ENST00000685390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,445,119 - 50,462,928 (-)Ensembl
RefSeq Acc Id: ENST00000685411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,447,181 - 50,455,517 (-)Ensembl
RefSeq Acc Id: ENST00000685459   ⟹   ENSP00000509511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,454,706 (-)Ensembl
RefSeq Acc Id: ENST00000685592   ⟹   ENSP00000510664
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,986 - 50,459,392 (-)Ensembl
RefSeq Acc Id: ENST00000685809   ⟹   ENSP00000508863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,041 (-)Ensembl
RefSeq Acc Id: ENST00000685960
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,466,605 - 50,467,571 (-)Ensembl
RefSeq Acc Id: ENST00000686029   ⟹   ENSP00000510100
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,454,814 - 50,456,673 (-)Ensembl
RefSeq Acc Id: ENST00000686191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,447,001 - 50,460,139 (-)Ensembl
RefSeq Acc Id: ENST00000686222   ⟹   ENSP00000508737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,819 - 50,475,023 (-)Ensembl
RefSeq Acc Id: ENST00000686321   ⟹   ENSP00000510774
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,863 - 50,456,673 (-)Ensembl
RefSeq Acc Id: ENST00000686421   ⟹   ENSP00000509940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,465,763 - 50,467,443 (-)Ensembl
RefSeq Acc Id: ENST00000686427   ⟹   ENSP00000510379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,831 - 50,474,933 (-)Ensembl
RefSeq Acc Id: ENST00000686717   ⟹   ENSP00000509976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,465,215 - 50,466,482 (-)Ensembl
RefSeq Acc Id: ENST00000686758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,447,027 - 50,458,239 (-)Ensembl
RefSeq Acc Id: ENST00000686801   ⟹   ENSP00000509915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,925 - 50,475,024 (-)Ensembl
RefSeq Acc Id: ENST00000686826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,458,322 (-)Ensembl
RefSeq Acc Id: ENST00000687016   ⟹   ENSP00000509074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,807 - 50,475,016 (-)Ensembl
RefSeq Acc Id: ENST00000687340   ⟹   ENSP00000509356
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,467,532 - 50,469,932 (-)Ensembl
RefSeq Acc Id: ENST00000687704   ⟹   ENSP00000510454
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,818 - 50,475,019 (-)Ensembl
RefSeq Acc Id: ENST00000687861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,456,896 - 50,460,000 (-)Ensembl
RefSeq Acc Id: ENST00000687878   ⟹   ENSP00000509948
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,465,961 - 50,467,443 (-)Ensembl
RefSeq Acc Id: ENST00000688030   ⟹   ENSP00000508668
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,460,534 - 50,462,470 (-)Ensembl
RefSeq Acc Id: ENST00000688066   ⟹   ENSP00000510782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,884 - 50,475,010 (-)Ensembl
RefSeq Acc Id: ENST00000688124   ⟹   ENSP00000510645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,023 (-)Ensembl
RefSeq Acc Id: ENST00000688381   ⟹   ENSP00000508847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,447,161 - 50,454,706 (-)Ensembl
RefSeq Acc Id: ENST00000688848   ⟹   ENSP00000509419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,474,996 (-)Ensembl
RefSeq Acc Id: ENST00000688985   ⟹   ENSP00000510477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,818 - 50,460,685 (-)Ensembl
RefSeq Acc Id: ENST00000689095   ⟹   ENSP00000509430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,465,763 - 50,466,482 (-)Ensembl
RefSeq Acc Id: ENST00000689129   ⟹   ENSP00000510414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,444,311 - 50,475,071 (-)Ensembl
RefSeq Acc Id: ENST00000689177
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,826 - 50,462,374 (-)Ensembl
RefSeq Acc Id: ENST00000689763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,444,680 - 50,445,750 (-)Ensembl
RefSeq Acc Id: ENST00000689849   ⟹   ENSP00000509742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,445,144 - 50,456,673 (-)Ensembl
RefSeq Acc Id: ENST00000689981   ⟹   ENSP00000509035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,035 (-)Ensembl
RefSeq Acc Id: ENST00000690155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,467,023 - 50,475,026 (-)Ensembl
RefSeq Acc Id: ENST00000690197   ⟹   ENSP00000510380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,444,629 - 50,447,422 (-)Ensembl
RefSeq Acc Id: ENST00000690369
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,811 - 50,474,786 (-)Ensembl
RefSeq Acc Id: ENST00000690590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,819 - 50,460,316 (-)Ensembl
RefSeq Acc Id: ENST00000690990   ⟹   ENSP00000510461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,019 (-)Ensembl
RefSeq Acc Id: ENST00000691233   ⟹   ENSP00000509215
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,033 (-)Ensembl
RefSeq Acc Id: ENST00000691306   ⟹   ENSP00000508964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,448,543 - 50,456,673 (-)Ensembl
RefSeq Acc Id: ENST00000691344   ⟹   ENSP00000509009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,466,605 - 50,475,035 (-)Ensembl
RefSeq Acc Id: ENST00000691345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,463,200 (-)Ensembl
RefSeq Acc Id: ENST00000691792   ⟹   ENSP00000509911
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,820 - 50,475,030 (-)Ensembl
RefSeq Acc Id: ENST00000691959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,444,328 - 50,466,688 (-)Ensembl
RefSeq Acc Id: ENST00000692006   ⟹   ENSP00000509653
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,459,470 - 50,460,685 (-)Ensembl
RefSeq Acc Id: ENST00000692076   ⟹   ENSP00000510301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,465,763 - 50,467,690 (-)Ensembl
RefSeq Acc Id: ENST00000692844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,907 - 50,460,556 (-)Ensembl
RefSeq Acc Id: ENST00000692946   ⟹   ENSP00000510472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,444,330 - 50,456,673 (-)Ensembl
RefSeq Acc Id: ENST00000693052   ⟹   ENSP00000509558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,006 (-)Ensembl
RefSeq Acc Id: ENST00000693068   ⟹   ENSP00000509997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,445,000 - 50,454,706 (-)Ensembl
RefSeq Acc Id: ENST00000693289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,454,547 - 50,459,956 (-)Ensembl
RefSeq Acc Id: ENST00000693440   ⟹   ENSP00000509462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,806 - 50,475,012 (-)Ensembl
RefSeq Acc Id: ENST00000693499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,454,547 - 50,465,081 (-)Ensembl
RefSeq Acc Id: ENST00000693591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,446,849 - 50,458,681 (-)Ensembl
RefSeq Acc Id: ENST00000693675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2250,464,723 - 50,466,517 (-)Ensembl
RefSeq Acc Id: NM_001365819   ⟹   NP_001352748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,445,000 - 50,475,035 (-)NCBI
T2T-CHM13v2.02250,954,193 - 50,984,219 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002972   ⟹   NP_002963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,445,000 - 50,475,035 (-)NCBI
GRCh372250,883,429 - 50,913,467 (-)NCBI
Build 362249,232,101 - 49,260,320 (-)NCBI Archive
Celera2234,759,447 - 34,789,477 (-)RGD
HuRef2233,773,881 - 33,803,909 (-)ENTREZGENE
CHM1_12250,842,172 - 50,872,238 (-)NCBI
T2T-CHM13v2.02250,954,193 - 50,984,219 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261935   ⟹   XP_005261992
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,445,000 - 50,475,035 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441454   ⟹   XP_047297410
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,445,000 - 50,475,035 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_002963   ⟸   NM_002972
- Peptide Label: isoform 1
- UniProtKB: O95248 (UniProtKB/Swiss-Prot),   A0A024R4Z9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005261992   ⟸   XM_005261935
- Peptide Label: isoform X2
- UniProtKB: O95248 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001352748   ⟸   NM_001365819
- Peptide Label: isoform 2
- UniProtKB: Q9UGB8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000252027   ⟸   ENST00000348911
RefSeq Acc Id: ENSP00000401538   ⟸   ENST00000418590
RefSeq Acc Id: ENSP00000370196   ⟸   ENST00000380817
RefSeq Acc Id: ENSP00000509419   ⟸   ENST00000688848
RefSeq Acc Id: ENSP00000510782   ⟸   ENST00000688066
RefSeq Acc Id: ENSP00000510100   ⟸   ENST00000686029
RefSeq Acc Id: ENSP00000510774   ⟸   ENST00000686321
RefSeq Acc Id: ENSP00000510338   ⟸   ENST00000685386
RefSeq Acc Id: ENSP00000509430   ⟸   ENST00000689095
RefSeq Acc Id: ENSP00000509035   ⟸   ENST00000689981
RefSeq Acc Id: ENSP00000509653   ⟸   ENST00000692006
RefSeq Acc Id: ENSP00000510472   ⟸   ENST00000692946
RefSeq Acc Id: ENSP00000509997   ⟸   ENST00000693068
RefSeq Acc Id: ENSP00000508863   ⟸   ENST00000685809
RefSeq Acc Id: ENSP00000510379   ⟸   ENST00000686427
RefSeq Acc Id: ENSP00000510454   ⟸   ENST00000687704
RefSeq Acc Id: ENSP00000509511   ⟸   ENST00000685459
RefSeq Acc Id: ENSP00000509356   ⟸   ENST00000687340
RefSeq Acc Id: ENSP00000509009   ⟸   ENST00000691344
RefSeq Acc Id: ENSP00000508847   ⟸   ENST00000688381
RefSeq Acc Id: ENSP00000509117   ⟸   ENST00000684986
RefSeq Acc Id: ENSP00000509948   ⟸   ENST00000687878
RefSeq Acc Id: ENSP00000509462   ⟸   ENST00000693440
RefSeq Acc Id: ENSP00000509940   ⟸   ENST00000686421
RefSeq Acc Id: ENSP00000510477   ⟸   ENST00000688985
RefSeq Acc Id: ENSP00000509074   ⟸   ENST00000687016
RefSeq Acc Id: ENSP00000509911   ⟸   ENST00000691792
RefSeq Acc Id: ENSP00000509742   ⟸   ENST00000689849
RefSeq Acc Id: ENSP00000510301   ⟸   ENST00000692076
RefSeq Acc Id: ENSP00000510380   ⟸   ENST00000690197
RefSeq Acc Id: ENSP00000510461   ⟸   ENST00000690990
RefSeq Acc Id: ENSP00000508737   ⟸   ENST00000686222
RefSeq Acc Id: ENSP00000509215   ⟸   ENST00000691233
RefSeq Acc Id: ENSP00000509640   ⟸   ENST00000685239
RefSeq Acc Id: ENSP00000510664   ⟸   ENST00000685592
RefSeq Acc Id: ENSP00000509558   ⟸   ENST00000693052
RefSeq Acc Id: ENSP00000509915   ⟸   ENST00000686801
RefSeq Acc Id: ENSP00000508668   ⟸   ENST00000688030
RefSeq Acc Id: ENSP00000509976   ⟸   ENST00000686717
RefSeq Acc Id: ENSP00000510645   ⟸   ENST00000688124
RefSeq Acc Id: ENSP00000510414   ⟸   ENST00000689129
RefSeq Acc Id: ENSP00000508964   ⟸   ENST00000691306
RefSeq Acc Id: XP_047297410   ⟸   XM_047441454
- Peptide Label: isoform X1
Protein Domains
cDENN   dDENN   DENN   GRAM   Myotubularin phosphatase   PH   SBF2   uDENN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95248-F1-model_v2 AlphaFold O95248 1-1868 view protein structure

Promoters
RGD ID:6812216
Promoter ID:HG_ACW:52604
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:SBF1.LAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,229,661 - 49,231,247 (-)MPROMDB
RGD ID:6800333
Promoter ID:HG_KWN:43383
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000316824
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,233,061 - 49,233,762 (-)MPROMDB
RGD ID:6800336
Promoter ID:HG_KWN:43384
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003BLE.1,   UC003BLF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,240,821 - 49,242,242 (-)MPROMDB
RGD ID:6800335
Promoter ID:HG_KWN:43385
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000316825
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,242,291 - 49,242,972 (-)MPROMDB
RGD ID:6800332
Promoter ID:HG_KWN:43386
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour
Transcripts:OTTHUMT00000316821
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,252,086 - 49,252,586 (-)MPROMDB
RGD ID:6799880
Promoter ID:HG_KWN:43387
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337034,   ENST00000348911,   ENST00000356279,   NM_002972,   OTTHUMT00000316820,   OTTHUMT00000316826,   UC003BLG.1,   UC003BLI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362249,260,149 - 49,260,649 (-)MPROMDB
RGD ID:13604544
Promoter ID:EPDNEW_H28456
Type:initiation region
Name:SBF1_1
Description:SET binding factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28458  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,475,035 - 50,475,095EPDNEW
RGD ID:13604548
Promoter ID:EPDNEW_H28458
Type:initiation region
Name:SBF1_2
Description:SET binding factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28456  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382250,484,364 - 50,484,424EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002972.4(SBF1):c.3873GGCCTC[3] (p.1292AS[3]) microsatellite not provided [RCV001507516] Chr22:50457053..50457054 [GRCh38]
Chr22:50895482..50895483 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2861G>A (p.Arg954His) single nucleotide variant not provided [RCV001507518] Chr22:50461265 [GRCh38]
Chr22:50899694 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1642A>G (p.Ile548Val) single nucleotide variant not provided [RCV001507521] Chr22:50464436 [GRCh38]
Chr22:50902865 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1634T>C (p.Met545Thr) single nucleotide variant not provided [RCV001507522] Chr22:50464536 [GRCh38]
Chr22:50902965 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1426A>G (p.Lys476Glu) single nucleotide variant not provided [RCV001507523] Chr22:50464824 [GRCh38]
Chr22:50903253 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5197C>T (p.Arg1733Cys) single nucleotide variant not provided [RCV001508027] Chr22:50448399 [GRCh38]
Chr22:50886828 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.52C>G (p.Arg18Gly) single nucleotide variant not provided [RCV001507525] Chr22:50474789 [GRCh38]
Chr22:50913218 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.277C>T (p.Gln93Ter) single nucleotide variant not provided [RCV000627326] Chr22:50467788 [GRCh38]
Chr22:50906217 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.721C>T (p.Arg241Trp) single nucleotide variant not provided [RCV001545210] Chr22:50466417 [GRCh38]
Chr22:50904846 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1249A>G (p.Met417Val) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000043693]|Microcephaly [RCV001252745] Chr22:50465084 [GRCh38]
Chr22:50903513 [GRCh37]
Chr22:22q13.33
pathogenic|uncertain significance
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000043694]|not provided [RCV000762082] Chr22:50454858 [GRCh38]
Chr22:50893287 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1 copy number loss See cases [RCV000050848] Chr22:47705262..50739836 [GRCh38]
Chr22:48101011..51178264 [GRCh37]
Chr22:46479675..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1 copy number loss See cases [RCV000051412] Chr22:47122613..50739836 [GRCh38]
Chr22:47518509..51178264 [GRCh37]
Chr22:45897173..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1 copy number loss See cases [RCV000051413] Chr22:47234701..50739836 [GRCh38]
Chr22:47630451..51178264 [GRCh37]
Chr22:46009115..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1 copy number loss See cases [RCV000051440] Chr22:48138038..50739836 [GRCh38]
Chr22:48533855..51178264 [GRCh37]
Chr22:46912519..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]|See cases [RCV000051441] Chr22:48423668..50739836 [GRCh38]
Chr22:48819480..51178264 [GRCh37]
Chr22:47198144..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1 copy number loss See cases [RCV000051442] Chr22:48654672..50739836 [GRCh38]
Chr22:49050484..51178264 [GRCh37]
Chr22:47436920..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1 copy number loss See cases [RCV000051443] Chr22:49395349..50738932 [GRCh38]
Chr22:49788999..51177360 [GRCh37]
Chr22:48175003..49524226 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000052894] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
NM_002972.3(SBF1):c.3180G>A (p.Lys1060=) single nucleotide variant Malignant melanoma [RCV000073014] Chr22:50460375 [GRCh38]
Chr22:50898804 [GRCh37]
Chr22:49245670 [NCBI36]
Chr22:22q13.33
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_002972.4(SBF1):c.2663G>A (p.Arg888His) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001287562]|not provided [RCV001531376] Chr22:50461699 [GRCh38]
Chr22:50900128 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1 copy number loss See cases [RCV000133859] Chr22:49378128..50739836 [GRCh38]
Chr22:49774048..51178264 [GRCh37]
Chr22:48160052..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) single nucleotide variant Charcot-Marie-Tooth disease [RCV000162103]|Charcot-Marie-Tooth disease type 4B3 [RCV000149508] Chr22:50465006 [GRCh38]
Chr22:50903435 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1 copy number loss See cases [RCV000133707] Chr22:49315518..50739836 [GRCh38]
Chr22:49711443..51178264 [GRCh37]
Chr22:48097447..49525130 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1 copy number loss See cases [RCV000135691] Chr22:49504768..50780581 [GRCh38]
Chr22:49898417..51203353 [GRCh37]
Chr22:48284421..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1 copy number loss See cases [RCV000135615] Chr22:46919818..50739836 [GRCh38]
Chr22:47315714..51178264 [GRCh37]
Chr22:45694378..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50055303-50677724)x3 copy number gain See cases [RCV000136106] Chr22:50055303..50677724 [GRCh38]
Chr22:50493732..51116152 [GRCh37]
Chr22:48835859..49463018 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33
benign
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3 copy number gain See cases [RCV000136874] Chr22:50274967..50739836 [GRCh38]
Chr22:50713396..51178264 [GRCh37]
Chr22:49055523..49525130 [NCBI36]
Chr22:22q13.33
benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1 copy number loss See cases [RCV000136941] Chr22:48614336..50739836 [GRCh38]
Chr22:49010148..51178264 [GRCh37]
Chr22:47396711..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1 copy number loss See cases [RCV000137377] Chr22:48500344..50780581 [GRCh38]
Chr22:48896156..51203353 [GRCh37]
Chr22:47274820..49565875 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1 copy number loss See cases [RCV000140089] Chr22:50149563..50780522 [GRCh38]
Chr22:50587992..51218950 [GRCh37]
Chr22:48930119..49565816 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1 copy number loss See cases [RCV000139655] Chr22:49535113..50780581 [GRCh38]
Chr22:49928762..51203353 [GRCh37]
Chr22:48314766..49565875 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1 copy number loss See cases [RCV000140772] Chr22:46732445..50780522 [GRCh38]
Chr22:47128342..51218950 [GRCh37]
Chr22:45507006..49565816 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1 copy number loss See cases [RCV000142589] Chr22:48241375..50739836 [GRCh38]
Chr22:48637187..51178264 [GRCh37]
Chr22:47015851..49525130 [NCBI36]
Chr22:22q13.32-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1 copy number loss See cases [RCV000143708] Chr22:49529760..50759410 [GRCh38]
Chr22:49923409..51197838 [GRCh37]
Chr22:48309413..49544704 [NCBI36]
Chr22:22q13.33
pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33
pathogenic
GRCh38/hg38 22q13.33(chr22:50368887-50599372)x3 copy number gain See cases [RCV000148204] Chr22:50368887..50599372 [GRCh38]
Chr22:50807316..51037801 [GRCh37]
Chr22:49154182..49384667 [NCBI36]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.3968G>A (p.Arg1323Gln) single nucleotide variant not provided [RCV000756613] Chr22:50456610 [GRCh38]
Chr22:50895039 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2982C>T (p.Ala994=) single nucleotide variant not provided [RCV000756614] Chr22:50460698 [GRCh38]
Chr22:50899127 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2195G>A (p.Arg732His) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV002221252]|not provided [RCV000756615] Chr22:50462406 [GRCh38]
Chr22:50900835 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.1204-15_1204-13del microsatellite not provided [RCV002085165] Chr22:50465142..50465144 [GRCh38]
Chr22:50903571..50903573 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2127+4C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000263]|not provided [RCV000224034] Chr22:50462555 [GRCh38]
Chr22:50900984 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.4437G>A (p.Val1479=) single nucleotide variant not provided [RCV000756617] Chr22:50455341 [GRCh38]
Chr22:50893770 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1682G>A (p.Arg561Gln) single nucleotide variant not provided [RCV001854918]|not specified [RCV000238616] Chr22:50464396 [GRCh38]
Chr22:50902825 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
NM_002972.4(SBF1):c.3987G>A (p.Ala1329=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001421029]|not provided [RCV001722313]|not specified [RCV000249535] Chr22:50456591 [GRCh38]
Chr22:50895020 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5452-13_5452-12del microsatellite not provided [RCV001722314]|not specified [RCV000254539] Chr22:50447465..50447466 [GRCh38]
Chr22:50885894..50885895 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_002972.4(SBF1):c.5559T>C (p.Thr1853=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001795451]|not provided [RCV001651171]|not specified [RCV000245755] Chr22:50447346 [GRCh38]
Chr22:50885775 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000626062] Chr22:50464722 [GRCh38]
Chr22:50903151 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264) copy number loss Phelan-McDermid syndrome [RCV000767671] Chr22:48533991..51178264 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_002972.4(SBF1):c.4240C>G (p.Leu1414Val) single nucleotide variant not provided [RCV000523773] Chr22:50456242 [GRCh38]
Chr22:50894671 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001284994]|not provided [RCV000415734]|not specified [RCV001700107] Chr22:50459316 [GRCh38]
Chr22:50897745 [GRCh37]
Chr22:22q13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.2605G>A (p.Val869Met) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000765656]|not provided [RCV000415859] Chr22:50461834 [GRCh38]
Chr22:50900263 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5434G>C (p.Asp1812His) single nucleotide variant not provided [RCV000415876] Chr22:50447539 [GRCh38]
Chr22:50885968 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3492-1G>T single nucleotide variant not provided [RCV000415967] Chr22:50459667 [GRCh38]
Chr22:50898096 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_002972.4(SBF1):c.898-4G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000978]|not provided [RCV000416032] Chr22:50466078 [GRCh38]
Chr22:50904507 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.3818G>A (p.Gly1273Asp) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001803969]|not provided [RCV000757731] Chr22:50459263 [GRCh38]
Chr22:50897692 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001332204]|Toe walking [RCV002225116]|not provided [RCV000757732] Chr22:50454590 [GRCh38]
Chr22:50893019 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_002972.4(SBF1):c.4975C>T (p.Arg1659Cys) single nucleotide variant not provided [RCV000757733] Chr22:50454580 [GRCh38]
Chr22:50893009 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4462C>T (p.His1488Tyr) single nucleotide variant not provided [RCV000757734] Chr22:50455316 [GRCh38]
Chr22:50893745 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3772G>A (p.Ala1258Thr) single nucleotide variant not provided [RCV000416111] Chr22:50459309 [GRCh38]
Chr22:50897738 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000979]|not provided [RCV001869424] Chr22:50454533 [GRCh38]
Chr22:50892962 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.219C>T (p.Ile73=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001001069] Chr22:50467846 [GRCh38]
Chr22:50906275 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.3284-12C>T single nucleotide variant not provided [RCV001720059] Chr22:50460171 [GRCh38]
Chr22:50898600 [GRCh37]
Chr22:22q13.33
benign|likely benign
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50645586-50949482) copy number loss Abnormal esophagus morphology [RCV000416670] Chr22:50645586..50949482 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_002972.4(SBF1):c.3766G>A (p.Ala1256Thr) single nucleotide variant not provided [RCV000483755] Chr22:50459315 [GRCh38]
Chr22:50897744 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1 copy number loss See cases [RCV000510342] Chr22:49628164..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.4007A>G (p.Asn1336Ser) single nucleotide variant not provided [RCV001857273]|not specified [RCV000508562] Chr22:50456571 [GRCh38]
Chr22:50895000 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1 copy number loss See cases [RCV000511340] Chr22:48556939..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000506262]|not provided [RCV000966108] Chr22:50461650 [GRCh38]
Chr22:50900079 [GRCh37]
Chr22:22q13.33
benign|likely benign
GRCh37/hg19 22q13.33(chr22:50716021-51157531)x3 copy number gain See cases [RCV000511797] Chr22:50716021..51157531 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) single nucleotide variant not provided [RCV001644571]|not specified [RCV000506331] Chr22:50459321 [GRCh38]
Chr22:50897750 [GRCh37]
Chr22:22q13.33
benign|uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1 copy number loss See cases [RCV000511993] Chr22:49305443..51197838 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000507445]|not provided [RCV000885103] Chr22:50460398 [GRCh38]
Chr22:50898827 [GRCh37]
Chr22:22q13.33
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.3904+5C>G single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000508180]|not provided [RCV000971983]|not specified [RCV001701025] Chr22:50457029 [GRCh38]
Chr22:50895458 [GRCh37]
Chr22:22q13.33
benign|likely benign
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000625784] Chr22:50455400 [GRCh38]
Chr22:50893829 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1 copy number loss See cases [RCV000512145] Chr22:50145416..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_002972.4(SBF1):c.3147-8G>C single nucleotide variant not provided [RCV000512802] Chr22:50460416 [GRCh38]
Chr22:50898845 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.4640G>A (p.Arg1547Gln) single nucleotide variant not provided [RCV000585484] Chr22:50455057 [GRCh38]
Chr22:50893486 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) deletion not provided [RCV000627484] Chr22:50447578..50447579 [GRCh38]
Chr22:50886007..50886008 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1 copy number loss not provided [RCV000684479] Chr22:50613566..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1 copy number loss not provided [RCV000684488] Chr22:50134203..51183840 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.1333-6C>G single nucleotide variant not provided [RCV001546217] Chr22:50464923 [GRCh38]
Chr22:50903352 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4813-18C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000573]|not provided [RCV001593173] Chr22:50454760 [GRCh38]
Chr22:50893189 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.4369-34G>A single nucleotide variant not provided [RCV001547332] Chr22:50455443 [GRCh38]
Chr22:50893872 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1012-41G>A single nucleotide variant not provided [RCV001547980] Chr22:50465881 [GRCh38]
Chr22:50904310 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter) single nucleotide variant Autism spectrum disorder [RCV000754681] Chr22:50465238 [GRCh38]
Chr22:50903667 [GRCh37]
Chr22:22q13.33
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1 copy number loss not provided [RCV000742061] Chr22:47782346..51243435 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1 copy number loss not provided [RCV000742062] Chr22:48125251..51211392 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1 copy number loss not provided [RCV000742071] Chr22:49313561..51195728 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1 copy number loss not provided [RCV000742097] Chr22:50627704..51211392 [GRCh37]
Chr22:22q13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50910875-50921305)x3 copy number gain not provided [RCV000742110] Chr22:50910875..50921305 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001804136]|Toe walking [RCV002221258]|not provided [RCV000963232] Chr22:50454628 [GRCh38]
Chr22:50893057 [GRCh37]
Chr22:22q13.33
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_002972.4(SBF1):c.3856C>T (p.Leu1286=) single nucleotide variant not provided [RCV000960324] Chr22:50457082 [GRCh38]
Chr22:50895511 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5614T>G (p.Cys1872Gly) single nucleotide variant not provided [RCV001907812] Chr22:50447210 [GRCh38]
Chr22:50885639 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3905-31T>C single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796675]|not provided [RCV001667189] Chr22:50456704 [GRCh38]
Chr22:50895133 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4014C>A (p.Gly1338=) single nucleotide variant not provided [RCV000896173] Chr22:50456564 [GRCh38]
Chr22:50894993 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1090-90G>C single nucleotide variant not provided [RCV001583518] Chr22:50465418 [GRCh38]
Chr22:50903847 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+193del deletion not provided [RCV001648735] Chr22:50474593 [GRCh38]
Chr22:50913022 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289673]|not provided [RCV000961766] Chr22:50447366 [GRCh38]
Chr22:50885795 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.3491+129C>T single nucleotide variant not provided [RCV001583834] Chr22:50459823 [GRCh38]
Chr22:50898252 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2128-17G>A single nucleotide variant not provided [RCV001566906] Chr22:50462490 [GRCh38]
Chr22:50900919 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.5107C>T (p.Arg1703Trp) single nucleotide variant not provided [RCV001547598] Chr22:50448587 [GRCh38]
Chr22:50887016 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001283626]|not provided [RCV000756616] Chr22:50455257 [GRCh38]
Chr22:50893686 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000629]|not provided [RCV000762081] Chr22:50447434 [GRCh38]
Chr22:50885863 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.4725G>A (p.Pro1575=) single nucleotide variant not provided [RCV000762083] Chr22:50454901 [GRCh38]
Chr22:50893330 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2569+4C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289841]|not provided [RCV000762084] Chr22:50461943 [GRCh38]
Chr22:50900372 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1803C>T (p.Leu601=) single nucleotide variant not provided [RCV000762086] Chr22:50463379 [GRCh38]
Chr22:50901808 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.615C>T (p.Pro205=) single nucleotide variant not provided [RCV000762087] Chr22:50466645 [GRCh38]
Chr22:50905074 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1899+3G>A single nucleotide variant not provided [RCV000762085] Chr22:50463280 [GRCh38]
Chr22:50901709 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4267-15C>T single nucleotide variant not provided [RCV001550668] Chr22:50455597 [GRCh38]
Chr22:50894026 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1090-104G>A single nucleotide variant not provided [RCV001577571] Chr22:50465432 [GRCh38]
Chr22:50903861 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.141+164C>T single nucleotide variant not provided [RCV001578197] Chr22:50468212 [GRCh38]
Chr22:50906641 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.-152CGC[10] microsatellite not provided [RCV001581834] Chr22:50474965..50474966 [GRCh38]
Chr22:50913394..50913395 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3051G>A (p.Pro1017=) single nucleotide variant not provided [RCV001574729] Chr22:50460629 [GRCh38]
Chr22:50899058 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.56-290C>T single nucleotide variant not provided [RCV001548452] Chr22:50468751 [GRCh38]
Chr22:50907180 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5507C>T (p.Ala1836Val) single nucleotide variant not provided [RCV000997947] Chr22:50447398 [GRCh38]
Chr22:50885827 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4493T>C (p.Leu1498Pro) single nucleotide variant not provided [RCV000997950] Chr22:50455285 [GRCh38]
Chr22:50893714 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4086+29A>G single nucleotide variant not provided [RCV001576260] Chr22:50456463 [GRCh38]
Chr22:50894892 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5151+28C>T single nucleotide variant not provided [RCV001666568] Chr22:50448515 [GRCh38]
Chr22:50886944 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1750-133G>C single nucleotide variant not provided [RCV001568931] Chr22:50463565 [GRCh38]
Chr22:50901994 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1449C>T (p.Ala483=) single nucleotide variant not provided [RCV001550318] Chr22:50464721 [GRCh38]
Chr22:50903150 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1095G>A (p.Lys365=) single nucleotide variant not provided [RCV000905577] Chr22:50465323 [GRCh38]
Chr22:50903752 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4414C>T (p.Leu1472=) single nucleotide variant not provided [RCV000921558] Chr22:50455364 [GRCh38]
Chr22:50893793 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1203+10C>T single nucleotide variant not provided [RCV000880778] Chr22:50465205 [GRCh38]
Chr22:50903634 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3012C>T (p.Ala1004=) single nucleotide variant not provided [RCV000902499] Chr22:50460668 [GRCh38]
Chr22:50899097 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3885C>T (p.Ser1295=) single nucleotide variant not provided [RCV000925520] Chr22:50457053 [GRCh38]
Chr22:50895482 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5630C>T (p.Pro1877Leu) single nucleotide variant not provided [RCV000879003] Chr22:50447194 [GRCh38]
Chr22:50885623 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1980G>A (p.Pro660=) single nucleotide variant not provided [RCV000969332] Chr22:50462706 [GRCh38]
Chr22:50901135 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001284879]|not provided [RCV000881695] Chr22:50464600 [GRCh38]
Chr22:50903029 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.4539G>C (p.Leu1513=) single nucleotide variant not provided [RCV000914241] Chr22:50455239 [GRCh38]
Chr22:50893668 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5145C>T (p.Asp1715=) single nucleotide variant not provided [RCV000892125] Chr22:50448549 [GRCh38]
Chr22:50886978 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) single nucleotide variant not provided [RCV000882580]|not specified [RCV001701345] Chr22:50447442 [GRCh38]
Chr22:50885871 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001001997]|not provided [RCV000904393] Chr22:50461577 [GRCh38]
Chr22:50900006 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000701]|not provided [RCV000904394] Chr22:50462346 [GRCh38]
Chr22:50900775 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_002972.4(SBF1):c.56-5C>T single nucleotide variant not provided [RCV000904395] Chr22:50468466 [GRCh38]
Chr22:50906895 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000382]|not provided [RCV000950028] Chr22:50462891 [GRCh38]
Chr22:50901320 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.5289C>T (p.Ser1763=) single nucleotide variant not provided [RCV000903834] Chr22:50448307 [GRCh38]
Chr22:50886736 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3702G>A (p.Ala1234=) single nucleotide variant not provided [RCV000923679] Chr22:50459379 [GRCh38]
Chr22:50897808 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1587A>G (p.Pro529=) single nucleotide variant not provided [RCV000899751] Chr22:50464583 [GRCh38]
Chr22:50903012 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2899A>G (p.Ile967Val) single nucleotide variant not provided [RCV000756612] Chr22:50461227 [GRCh38]
Chr22:50899656 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5676C>T (p.Asp1892=) single nucleotide variant not provided [RCV000902798] Chr22:50447148 [GRCh38]
Chr22:50885577 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1056G>A (p.Pro352=) single nucleotide variant not provided [RCV000959700] Chr22:50465796 [GRCh38]
Chr22:50904225 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1668T>C (p.His556=) single nucleotide variant not provided [RCV000879369] Chr22:50464410 [GRCh38]
Chr22:50902839 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr) single nucleotide variant not provided [RCV000881952] Chr22:50466179 [GRCh38]
Chr22:50904608 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3006C>T (p.Asp1002=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001804142]|not provided [RCV000966809] Chr22:50460674 [GRCh38]
Chr22:50899103 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2175C>T (p.Asp725=) single nucleotide variant not provided [RCV000948142] Chr22:50462426 [GRCh38]
Chr22:50900855 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1212C>T (p.Phe404=) single nucleotide variant not provided [RCV000903836] Chr22:50465121 [GRCh38]
Chr22:50903550 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4536C>T (p.Phe1512=) single nucleotide variant not provided [RCV000927796] Chr22:50455242 [GRCh38]
Chr22:50893671 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.466C>T (p.His156Tyr) single nucleotide variant not provided [RCV000902124] Chr22:50467421 [GRCh38]
Chr22:50905850 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.390G>A (p.Pro130=) single nucleotide variant not provided [RCV000883599] Chr22:50467580 [GRCh38]
Chr22:50906009 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.738C>T (p.Leu246=) single nucleotide variant not provided [RCV000972141] Chr22:50466400 [GRCh38]
Chr22:50904829 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity
NM_002972.4(SBF1):c.5673G>A (p.Ser1891=) single nucleotide variant not provided [RCV000916025] Chr22:50447151 [GRCh38]
Chr22:50885580 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2121C>G (p.Pro707=) single nucleotide variant not provided [RCV000926392] Chr22:50462565 [GRCh38]
Chr22:50900994 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5427C>T (p.Phe1809=) single nucleotide variant not provided [RCV000904860] Chr22:50447546 [GRCh38]
Chr22:50885975 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3294G>A (p.Glu1098=) single nucleotide variant not provided [RCV000943292] Chr22:50460149 [GRCh38]
Chr22:50898578 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1637-5C>T single nucleotide variant not provided [RCV000927319] Chr22:50464446 [GRCh38]
Chr22:50902875 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity
NM_002972.4(SBF1):c.141+10_141+12del deletion not provided [RCV000969333] Chr22:50468364..50468366 [GRCh38]
Chr22:50906793..50906795 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001287818]|not provided [RCV001587318] Chr22:50474786 [GRCh38]
Chr22:50913215 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3826+1G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000995635]|not provided [RCV001531987] Chr22:50459254 [GRCh38]
Chr22:50897683 [GRCh37]
Chr22:22q13.33
likely pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33
likely pathogenic
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) deletion Charcot-Marie-Tooth disease type 4 [RCV000781831]|not provided [RCV001873194] Chr22:50462446..50462447 [GRCh38]
Chr22:50900875..50900876 [GRCh37]
Chr22:22q13.33
pathogenic|likely pathogenic
NM_002972.4(SBF1):c.2828C>T (p.Thr943Met) single nucleotide variant not provided [RCV001869159]|not specified [RCV000781832] Chr22:50461534 [GRCh38]
Chr22:50899963 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5109G>A (p.Arg1703=) single nucleotide variant not provided [RCV000903835] Chr22:50448585 [GRCh38]
Chr22:50887014 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2370C>T (p.Ser790=) single nucleotide variant not provided [RCV000907893] Chr22:50462231 [GRCh38]
Chr22:50900660 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1680C>T (p.Ala560=) single nucleotide variant not provided [RCV000919345] Chr22:50464398 [GRCh38]
Chr22:50902827 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1029G>A (p.Leu343=) single nucleotide variant not provided [RCV000922484] Chr22:50465823 [GRCh38]
Chr22:50904252 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1536C>T (p.Thr512=) single nucleotide variant not provided [RCV000925050] Chr22:50464634 [GRCh38]
Chr22:50903063 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289629]|not provided [RCV000973634] Chr22:50467674 [GRCh38]
Chr22:50906103 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3403C>T (p.Leu1135=) single nucleotide variant not provided [RCV000898355] Chr22:50460040 [GRCh38]
Chr22:50898469 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5370C>T (p.Tyr1790=) single nucleotide variant not provided [RCV000879772] Chr22:50447603 [GRCh38]
Chr22:50886032 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001002009]|not provided [RCV000905841] Chr22:50456638 [GRCh38]
Chr22:50895067 [GRCh37]
Chr22:22q13.33
benign|likely benign|uncertain significance
NM_002972.4(SBF1):c.2034G>A (p.Thr678=) single nucleotide variant not provided [RCV000886554] Chr22:50462652 [GRCh38]
Chr22:50901081 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3768C>T (p.Ala1256=) single nucleotide variant not provided [RCV000922667] Chr22:50459313 [GRCh38]
Chr22:50897742 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2415C>T (p.Ala805=) single nucleotide variant not provided [RCV000898660] Chr22:50462101 [GRCh38]
Chr22:50900530 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2570-3C>T single nucleotide variant not provided [RCV000896174] Chr22:50461872 [GRCh38]
Chr22:50900301 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001002008]|not provided [RCV000881459] Chr22:50462208 [GRCh38]
Chr22:50900637 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_002972.4(SBF1):c.3936C>T (p.Arg1312=) single nucleotide variant not provided [RCV000942731] Chr22:50456642 [GRCh38]
Chr22:50895071 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.834C>T (p.Leu278=) single nucleotide variant not provided [RCV000943804] Chr22:50466213 [GRCh38]
Chr22:50904642 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.900C>G (p.Leu300=) single nucleotide variant not provided [RCV000966274] Chr22:50466072 [GRCh38]
Chr22:50904501 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2820G>A (p.Gly940=) single nucleotide variant not provided [RCV000918692] Chr22:50461542 [GRCh38]
Chr22:50899971 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3675C>T (p.Asn1225=) single nucleotide variant not provided [RCV000983006] Chr22:50459483 [GRCh38]
Chr22:50897912 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3831C>T (p.Pro1277=) single nucleotide variant not provided [RCV000918391] Chr22:50457107 [GRCh38]
Chr22:50895536 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3827-4T>C single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001287511]|not provided [RCV000966107] Chr22:50457115 [GRCh38]
Chr22:50895544 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.603C>T (p.Ala201=) single nucleotide variant not provided [RCV000959801] Chr22:50466657 [GRCh38]
Chr22:50905086 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001804069]|not provided [RCV000900485] Chr22:50456656 [GRCh38]
Chr22:50895085 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.3309G>A (p.Thr1103=) single nucleotide variant not provided [RCV000906198] Chr22:50460134 [GRCh38]
Chr22:50898563 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2079C>T (p.His693=) single nucleotide variant not provided [RCV000954326]|not specified [RCV001701374] Chr22:50462607 [GRCh38]
Chr22:50901036 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001002298]|not provided [RCV000917335] Chr22:50459492 [GRCh38]
Chr22:50897921 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.5265C>T (p.Asp1755=) single nucleotide variant not provided [RCV000906656] Chr22:50448331 [GRCh38]
Chr22:50886760 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3255C>G (p.Pro1085=) single nucleotide variant not provided [RCV000907792] Chr22:50460300 [GRCh38]
Chr22:50898729 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2697C>A (p.Gly899=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001804101]|not provided [RCV000942432] Chr22:50461665 [GRCh38]
Chr22:50900094 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3018C>T (p.Leu1006=) single nucleotide variant not provided [RCV000915661] Chr22:50460662 [GRCh38]
Chr22:50899091 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2967+8G>A single nucleotide variant not provided [RCV000916093] Chr22:50461151 [GRCh38]
Chr22:50899580 [GRCh37]
Chr22:22q13.33
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV000791208]|not provided [RCV001576154] Chr22:50462920 [GRCh38]
Chr22:50901349 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001284863]|not provided [RCV000891647]|not specified [RCV001796308] Chr22:50454722 [GRCh38]
Chr22:50893151 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5153G>A (p.Gly1718Asp) single nucleotide variant not provided [RCV000997948] Chr22:50448443 [GRCh38]
Chr22:50886872 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000499]|not provided [RCV000891826]|not specified [RCV001701236] Chr22:50447199 [GRCh38]
Chr22:50885628 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.630C>T (p.Ser210=) single nucleotide variant not provided [RCV000893086] Chr22:50466630 [GRCh38]
Chr22:50905059 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4554+7A>G single nucleotide variant not provided [RCV000892126] Chr22:50455217 [GRCh38]
Chr22:50893646 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2968-9C>T single nucleotide variant not provided [RCV000892127] Chr22:50460721 [GRCh38]
Chr22:50899150 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2128-7G>A single nucleotide variant not provided [RCV000916038] Chr22:50462480 [GRCh38]
Chr22:50900909 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2464G>A (p.Val822Ile) single nucleotide variant not provided [RCV000997951] Chr22:50462052 [GRCh38]
Chr22:50900481 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.1968G>A (p.Arg656=) single nucleotide variant not provided [RCV000997953] Chr22:50462870 [GRCh38]
Chr22:50901299 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.33(chr22:50870751-50947129)x3 copy number gain not provided [RCV000848272] Chr22:50870751..50947129 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.33(chr22:50893448-51060012)x3 copy number gain not provided [RCV001007195] Chr22:50893448..51060012 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1 copy number loss not provided [RCV001007508] Chr22:48528536..51183840 [GRCh37]
Chr22:22q13.32-13.33
pathogenic
NM_002972.4(SBF1):c.1058C>T (p.Pro353Leu) single nucleotide variant not provided [RCV000895185] Chr22:50465794 [GRCh38]
Chr22:50904223 [GRCh37]
Chr22:22q13.33
benign|conflicting interpretations of pathogenicity
NM_002972.4(SBF1):c.1299G>C (p.Gly433=) single nucleotide variant not provided [RCV000918479] Chr22:50465034 [GRCh38]
Chr22:50903463 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4592A>C (p.Gln1531Pro) single nucleotide variant not provided [RCV000997949] Chr22:50455105 [GRCh38]
Chr22:50893534 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2317A>G (p.Ser773Gly) single nucleotide variant not provided [RCV000997952] Chr22:50462284 [GRCh38]
Chr22:50900713 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.3579C>T (p.Pro1193=) single nucleotide variant not provided [RCV000914238] Chr22:50459579 [GRCh38]
Chr22:50898008 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs) deletion not provided [RCV001009304] Chr22:50447590..50447591 [GRCh38]
Chr22:50886019..50886020 [GRCh37]
Chr22:22q13.33
likely pathogenic|conflicting interpretations of pathogenicity
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001001088]|not provided [RCV001508025] Chr22:50447398 [GRCh38]
Chr22:50885827 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4612G>A (p.Gly1538Ser) single nucleotide variant not provided [RCV001171731] Chr22:50455085 [GRCh38]
Chr22:50893514 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5229C>T (p.Pro1743=) single nucleotide variant not provided [RCV001576159] Chr22:50448367 [GRCh38]
Chr22:50886796 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+85G>C single nucleotide variant not provided [RCV001568673] Chr22:50474701 [GRCh38]
Chr22:50913130 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.18C>T (p.Asp6=) single nucleotide variant not provided [RCV001550743] Chr22:50474823 [GRCh38]
Chr22:50913252 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2569+16C>T single nucleotide variant not provided [RCV001577675] Chr22:50461931 [GRCh38]
Chr22:50900360 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.3283+37G>A single nucleotide variant not provided [RCV001547715] Chr22:50460235 [GRCh38]
Chr22:50898664 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4681+14C>T single nucleotide variant not provided [RCV001574837] Chr22:50455002 [GRCh38]
Chr22:50893431 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1089+89C>A single nucleotide variant not provided [RCV001570786] Chr22:50465674 [GRCh38]
Chr22:50904103 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5043+193C>T single nucleotide variant not provided [RCV001559966] Chr22:50454319 [GRCh38]
Chr22:50892748 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4266+42del deletion not provided [RCV001588564] Chr22:50456174 [GRCh38]
Chr22:50894603 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3146+33G>A single nucleotide variant not provided [RCV001583481] Chr22:50460501 [GRCh38]
Chr22:50898930 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1968+40C>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796694]|not provided [RCV001680804] Chr22:50462830 [GRCh38]
Chr22:50901259 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5043+247C>T single nucleotide variant not provided [RCV001553468] Chr22:50454265 [GRCh38]
Chr22:50892694 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1968+40C>G single nucleotide variant not provided [RCV001722970] Chr22:50462830 [GRCh38]
Chr22:50901259 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.*76T>C single nucleotide variant not provided [RCV001590465] Chr22:50447066 [GRCh38]
Chr22:50885495 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.142-166C>T single nucleotide variant not provided [RCV001598476] Chr22:50468089 [GRCh38]
Chr22:50906518 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5043+336G>T single nucleotide variant not provided [RCV001555870] Chr22:50454176 [GRCh38]
Chr22:50892605 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.-21_-3del deletion not provided [RCV001555896] Chr22:50474843..50474861 [GRCh38]
Chr22:50913272..50913290 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1432-13C>T single nucleotide variant not provided [RCV001556372] Chr22:50464751 [GRCh38]
Chr22:50903180 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.1749+306C>T single nucleotide variant not provided [RCV001561601] Chr22:50464023 [GRCh38]
Chr22:50902452 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+219G>A single nucleotide variant not provided [RCV001649554] Chr22:50474567 [GRCh38]
Chr22:50912996 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2967+163A>G single nucleotide variant not provided [RCV001669527] Chr22:50460996 [GRCh38]
Chr22:50899425 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.55+33G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796678]|not provided [RCV001669951] Chr22:50474753 [GRCh38]
Chr22:50913182 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1749+55del deletion not provided [RCV001649395] Chr22:50464274 [GRCh38]
Chr22:50902703 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3491+38G>A single nucleotide variant not provided [RCV001570024] Chr22:50459914 [GRCh38]
Chr22:50898343 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.-69C>T single nucleotide variant not provided [RCV001639876] Chr22:50474909 [GRCh38]
Chr22:50913338 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4086+20T>G single nucleotide variant not provided [RCV001563000] Chr22:50456472 [GRCh38]
Chr22:50894901 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4267-44A>T single nucleotide variant not provided [RCV001590175] Chr22:50455626 [GRCh38]
Chr22:50894055 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3654C>T (p.Val1218=) single nucleotide variant not provided [RCV001551830] Chr22:50459504 [GRCh38]
Chr22:50897933 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.3904+86T>C single nucleotide variant not provided [RCV001546315] Chr22:50456948 [GRCh38]
Chr22:50895377 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.549+203C>T single nucleotide variant not provided [RCV001614604] Chr22:50467135 [GRCh38]
Chr22:50905564 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1900-167T>C single nucleotide variant not provided [RCV001676937] Chr22:50463105 [GRCh38]
Chr22:50901534 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.142-48C>T single nucleotide variant not provided [RCV001587558] Chr22:50467971 [GRCh38]
Chr22:50906400 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3231C>T (p.Ser1077=) single nucleotide variant not provided [RCV001531988] Chr22:50460324 [GRCh38]
Chr22:50898753 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.550-307del deletion not provided [RCV001724470] Chr22:50467017 [GRCh38]
Chr22:50905446 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.554C>T (p.Thr185Met) single nucleotide variant not provided [RCV001587760] Chr22:50466706 [GRCh38]
Chr22:50905135 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4549C>T (p.His1517Tyr) single nucleotide variant not provided [RCV001587857] Chr22:50455229 [GRCh38]
Chr22:50893658 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3904+64A>G single nucleotide variant not provided [RCV001587911] Chr22:50456970 [GRCh38]
Chr22:50895399 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1107G>A (p.Ala369=) single nucleotide variant not provided [RCV000927194] Chr22:50465311 [GRCh38]
Chr22:50903740 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3813C>T (p.His1271=) single nucleotide variant not provided [RCV000975279] Chr22:50459268 [GRCh38]
Chr22:50897697 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4389G>A (p.Leu1463=) single nucleotide variant not provided [RCV000952796] Chr22:50455389 [GRCh38]
Chr22:50893818 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2463C>T (p.Asp821=) single nucleotide variant not provided [RCV000929742] Chr22:50462053 [GRCh38]
Chr22:50900482 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3827-6C>T single nucleotide variant not provided [RCV000896085] Chr22:50457117 [GRCh38]
Chr22:50895546 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000441]|not provided [RCV000971982]|not specified [RCV001701273] Chr22:50447220 [GRCh38]
Chr22:50885649 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.656-7C>T single nucleotide variant not provided [RCV000909852] Chr22:50466489 [GRCh38]
Chr22:50904918 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1164C>T (p.Val388=) single nucleotide variant not provided [RCV000900686] Chr22:50465254 [GRCh38]
Chr22:50903683 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3318G>A (p.Pro1106=) single nucleotide variant not provided [RCV000929846] Chr22:50460125 [GRCh38]
Chr22:50898554 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.820C>T (p.Leu274=) single nucleotide variant not provided [RCV000907370] Chr22:50466227 [GRCh38]
Chr22:50904656 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.207C>T (p.Val69=) single nucleotide variant not provided [RCV000916654] Chr22:50467858 [GRCh38]
Chr22:50906287 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2730G>A (p.Glu910=) single nucleotide variant not provided [RCV000909399] Chr22:50461632 [GRCh38]
Chr22:50900061 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.4962C>G (p.Pro1654=) single nucleotide variant not provided [RCV000980581] Chr22:50454593 [GRCh38]
Chr22:50893022 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.438+8C>T single nucleotide variant not provided [RCV000915418] Chr22:50467524 [GRCh38]
Chr22:50905953 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2784C>T (p.Ala928=) single nucleotide variant not provided [RCV000902013] Chr22:50461578 [GRCh38]
Chr22:50900007 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3777G>T (p.Ser1259=) single nucleotide variant not provided [RCV000940351] Chr22:50459304 [GRCh38]
Chr22:50897733 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2650C>G (p.Leu884Val) single nucleotide variant not provided [RCV000910419] Chr22:50461712 [GRCh38]
Chr22:50900141 [GRCh37]
Chr22:22q13.33
likely benign|conflicting interpretations of pathogenicity
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=) single nucleotide variant not provided [RCV000888555] Chr22:50456531 [GRCh38]
Chr22:50894960 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5214C>T (p.Tyr1738=) single nucleotide variant not provided [RCV000933428] Chr22:50448382 [GRCh38]
Chr22:50886811 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4545C>T (p.Cys1515=) single nucleotide variant not provided [RCV000939804] Chr22:50455233 [GRCh38]
Chr22:50893662 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2121C>T (p.Pro707=) single nucleotide variant not provided [RCV000904530] Chr22:50462565 [GRCh38]
Chr22:50900994 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5203C>T (p.Leu1735=) single nucleotide variant not provided [RCV000896084] Chr22:50448393 [GRCh38]
Chr22:50886822 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1872C>T (p.Val624=) single nucleotide variant not provided [RCV000896086] Chr22:50463310 [GRCh38]
Chr22:50901739 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.498C>T (p.Asn166=) single nucleotide variant not provided [RCV000908257] Chr22:50467389 [GRCh38]
Chr22:50905818 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001000501]|not provided [RCV000953406] Chr22:50460104 [GRCh38]
Chr22:50898533 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.4977C>T (p.Arg1659=) single nucleotide variant not provided [RCV000957769] Chr22:50454578 [GRCh38]
Chr22:50893007 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1677C>T (p.Ser559=) single nucleotide variant not provided [RCV000911601] Chr22:50464401 [GRCh38]
Chr22:50902830 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4995C>T (p.Tyr1665=) single nucleotide variant not provided [RCV000911712] Chr22:50454560 [GRCh38]
Chr22:50892989 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1749+9T>G single nucleotide variant not provided [RCV000889386] Chr22:50464320 [GRCh38]
Chr22:50902749 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2451A>G (p.Ala817=) single nucleotide variant not provided [RCV000911713] Chr22:50462065 [GRCh38]
Chr22:50900494 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5151+27A>G single nucleotide variant not provided [RCV001561879] Chr22:50448516 [GRCh38]
Chr22:50886945 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1222C>T (p.Arg408Cys) single nucleotide variant not provided [RCV001567315] Chr22:50465111 [GRCh38]
Chr22:50903540 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5363+284C>T single nucleotide variant not provided [RCV001577616] Chr22:50447949 [GRCh38]
Chr22:50886378 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3905-26G>A single nucleotide variant not provided [RCV001563069] Chr22:50456699 [GRCh38]
Chr22:50895128 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.-152CGC[6] microsatellite not provided [RCV001719209] Chr22:50474966..50474974 [GRCh38]
Chr22:50913395..50913403 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.-86C>T single nucleotide variant not provided [RCV001719211] Chr22:50474926 [GRCh38]
Chr22:50913355 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.55+7G>A single nucleotide variant not provided [RCV001719212] Chr22:50474779 [GRCh38]
Chr22:50913208 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.439-27C>T single nucleotide variant not provided [RCV001719213] Chr22:50467475 [GRCh38]
Chr22:50905904 [GRCh37]
Chr22:22q13.33
benign
Single allele deletion not provided [RCV001558158] Chr22:50475344 [GRCh38]
Chr22:50913773 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1749+7G>A single nucleotide variant not provided [RCV001677705] Chr22:50464322 [GRCh38]
Chr22:50902751 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5363+105T>C single nucleotide variant not provided [RCV001609055] Chr22:50448128 [GRCh38]
Chr22:50886557 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5311C>T (p.Arg1771Cys) single nucleotide variant not provided [RCV001553434] Chr22:50448285 [GRCh38]
Chr22:50886714 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4266+44C>T single nucleotide variant not provided [RCV001555149] Chr22:50456172 [GRCh38]
Chr22:50894601 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1636+36G>A single nucleotide variant not provided [RCV001555276] Chr22:50464498 [GRCh38]
Chr22:50902927 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.*112C>T single nucleotide variant not provided [RCV001555306] Chr22:50447030 [GRCh38]
Chr22:50885459 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1090-193A>C single nucleotide variant not provided [RCV001560831] Chr22:50465521 [GRCh38]
Chr22:50903950 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.142-112C>T single nucleotide variant not provided [RCV001594269] Chr22:50468035 [GRCh38]
Chr22:50906464 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5364-195T>G single nucleotide variant not provided [RCV001561300] Chr22:50447804 [GRCh38]
Chr22:50886233 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3976G>A (p.Gly1326Ser) single nucleotide variant not provided [RCV001556385] Chr22:50456602 [GRCh38]
Chr22:50895031 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele single nucleotide variant not provided [RCV001621403] Chr22:50475096 [GRCh38]
Chr22:50913525 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4882G>A (p.Glu1628Lys) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001723259]|not provided [RCV001882788] Chr22:50454673 [GRCh38]
Chr22:50893102 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.550-108C>T single nucleotide variant not provided [RCV001589499] Chr22:50466818 [GRCh38]
Chr22:50905247 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.141+224T>C single nucleotide variant not provided [RCV001654573] Chr22:50468152 [GRCh38]
Chr22:50906581 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2396+26C>G single nucleotide variant not provided [RCV001655044] Chr22:50462179 [GRCh38]
Chr22:50900608 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2643+39C>T single nucleotide variant not provided [RCV001678402] Chr22:50461757 [GRCh38]
Chr22:50900186 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2840-42_2840-41del deletion not provided [RCV001719210] Chr22:50461327..50461328 [GRCh38]
Chr22:50899756..50899757 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1750-34G>A single nucleotide variant not provided [RCV001596338] Chr22:50463466 [GRCh38]
Chr22:50901895 [GRCh37]
Chr22:22q13.33
likely benign
Single allele single nucleotide variant not provided [RCV001715217] Chr22:50475210 [GRCh38]
Chr22:50913639 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.55+251C>T single nucleotide variant not provided [RCV001656552] Chr22:50474535 [GRCh38]
Chr22:50912964 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3688+26C>G single nucleotide variant not provided [RCV001673281] Chr22:50459444 [GRCh38]
Chr22:50897873 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2840-43C>G single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796620]|not provided [RCV001635687] Chr22:50461329 [GRCh38]
Chr22:50899758 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.550-227C>T single nucleotide variant not provided [RCV001592166] Chr22:50466937 [GRCh38]
Chr22:50905366 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2968-169C>T single nucleotide variant not provided [RCV001719168] Chr22:50460881 [GRCh38]
Chr22:50899310 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1089+150G>C single nucleotide variant not provided [RCV001678433] Chr22:50465613 [GRCh38]
Chr22:50904042 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.55+193A>G single nucleotide variant not provided [RCV001649794] Chr22:50474593 [GRCh38]
Chr22:50913022 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5583+12dup duplication not provided [RCV001617874] Chr22:50447308..50447309 [GRCh38]
Chr22:50885737..50885738 [GRCh37]
Chr22:22q13.33
benign
Single allele single nucleotide variant not provided [RCV001722738] Chr22:50475114 [GRCh38]
Chr22:50913543 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3688+31C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001794512]|not provided [RCV001722744] Chr22:50459439 [GRCh38]
Chr22:50897868 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2127+37A>G single nucleotide variant not provided [RCV001722745] Chr22:50462522 [GRCh38]
Chr22:50900951 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001001565]|not provided [RCV001536351] Chr22:50456558 [GRCh38]
Chr22:50894987 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001002004]|not provided [RCV001766820] Chr22:50455058 [GRCh38]
Chr22:50893487 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1 copy number loss not provided [RCV001007506] Chr22:48223839..51197725 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001287106]|not provided [RCV001871692] Chr22:50455261 [GRCh38]
Chr22:50893690 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.56-27G>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796613]|not provided [RCV001616628] Chr22:50468488 [GRCh38]
Chr22:50906917 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4087-35_4087-34del deletion not provided [RCV001588683] Chr22:50456429..50456430 [GRCh38]
Chr22:50894858..50894859 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4267-260dup duplication not provided [RCV001695423] Chr22:50455840..50455841 [GRCh38]
Chr22:50894269..50894270 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.291C>T (p.Arg97=) single nucleotide variant not provided [RCV001671357] Chr22:50467679 [GRCh38]
Chr22:50906108 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3492-40T>C single nucleotide variant not provided [RCV001583171] Chr22:50459706 [GRCh38]
Chr22:50898135 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1750-214T>C single nucleotide variant not provided [RCV001640922] Chr22:50463646 [GRCh38]
Chr22:50902075 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.-152CGC[8] microsatellite not provided [RCV001652135] Chr22:50474966..50474968 [GRCh38]
Chr22:50913395..50913397 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5195G>A (p.Arg1732His) single nucleotide variant not provided [RCV001171730] Chr22:50448401 [GRCh38]
Chr22:50886830 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.-160A>G single nucleotide variant not provided [RCV001640798] Chr22:50475000 [GRCh38]
Chr22:50913429 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1968+33A>G single nucleotide variant not provided [RCV001671634] Chr22:50462837 [GRCh38]
Chr22:50901266 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5044-69del deletion not provided [RCV001565781] Chr22:50448719 [GRCh38]
Chr22:50887148 [GRCh37]
Chr22:22q13.33
likely benign
Single allele single nucleotide variant not provided [RCV001536556] Chr22:50475181 [GRCh38]
Chr22:50913610 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1969-37G>C single nucleotide variant not provided [RCV001651904] Chr22:50462754 [GRCh38]
Chr22:50901183 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2396+36C>T single nucleotide variant not provided [RCV001565963] Chr22:50462169 [GRCh38]
Chr22:50900598 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3284-31C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796596]|not provided [RCV001539218] Chr22:50460190 [GRCh38]
Chr22:50898619 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2840-41del deletion not provided [RCV001647669] Chr22:50461327 [GRCh38]
Chr22:50899756 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5044-295G>A single nucleotide variant not provided [RCV001589759] Chr22:50448945 [GRCh38]
Chr22:50887374 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1968+40C>T single nucleotide variant not provided [RCV001588236] Chr22:50462830 [GRCh38]
Chr22:50901259 [GRCh37]
Chr22:22q13.33
likely benign
Single allele single nucleotide variant not provided [RCV001709337] Chr22:50475252 [GRCh38]
Chr22:50913681 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4086+26_4086+38del deletion not provided [RCV001670919] Chr22:50456454..50456466 [GRCh38]
Chr22:50894883..50894895 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4267-93C>T single nucleotide variant not provided [RCV001616612] Chr22:50455675 [GRCh38]
Chr22:50894104 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001001087]|not provided [RCV001860502] Chr22:50465783 [GRCh38]
Chr22:50904212 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3905-9C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001001306]|not provided [RCV001593174] Chr22:50456682 [GRCh38]
Chr22:50895111 [GRCh37]
Chr22:22q13.33
likely benign
Single allele deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.3547G>A (p.Val1183Met) single nucleotide variant Microcephaly [RCV001252837] Chr22:50459611 [GRCh38]
Chr22:50898040 [GRCh37]
Chr22:22q13.33
uncertain significance
Single allele deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254361] Chr22:48500344..50780581 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254362] Chr22:47447433..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254365] Chr22:48500337..50739785 [GRCh38]
Chr22:22q13.32-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254357] Chr22:47513236..50806138 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
Single allele deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33
pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1 copy number loss not provided [RCV001258791] Chr22:50791825..51181078 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.1431+27G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796643]|not provided [RCV001641915] Chr22:50464792 [GRCh38]
Chr22:50903221 [GRCh37]
Chr22:22q13.33
benign
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_002972.4(SBF1):c.161G>A (p.Trp54Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001332200] Chr22:50467904 [GRCh38]
Chr22:50906333 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_002972.4(SBF1):c.3880_3887dup (p.Arg1297fs) duplication Charcot-Marie-Tooth disease, type 4B3 [RCV001332203] Chr22:50457050..50457051 [GRCh38]
Chr22:50895479..50895480 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.4369-11G>C single nucleotide variant not provided [RCV001575684] Chr22:50455420 [GRCh38]
Chr22:50893849 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.898-18G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289826]|not provided [RCV001701312] Chr22:50466092 [GRCh38]
Chr22:50904521 [GRCh37]
Chr22:22q13.33
benign|likely benign
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289605] Chr22:50459981 [GRCh38]
Chr22:50898410 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2938G>A (p.Gly980Arg) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001332202] Chr22:50461188 [GRCh38]
Chr22:50899617 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001284924]|not provided [RCV002069508] Chr22:50460044 [GRCh38]
Chr22:50898473 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2763A>G (p.Ala921=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001335998]|not provided [RCV002070209] Chr22:50461599 [GRCh38]
Chr22:50900028 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_002972.4(SBF1):c.1696G>T (p.Val566Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001332201]|not provided [RCV001859289] Chr22:50464382 [GRCh38]
Chr22:50902811 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2288G>A (p.Arg763His) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001449576] Chr22:50462313 [GRCh38]
Chr22:50900742 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_002972.4(SBF1):c.2289C>T (p.Arg763=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001449644] Chr22:50462312 [GRCh38]
Chr22:50900741 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001449656]|Toe walking [RCV001815554]|not provided [RCV001872001] Chr22:50460364 [GRCh38]
Chr22:50898793 [GRCh37]
Chr22:22q13.33
likely pathogenic|uncertain significance
NM_002972.4(SBF1):c.4368+17G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001803375]|not provided [RCV001581482] Chr22:50455464 [GRCh38]
Chr22:50893893 [GRCh37]
Chr22:22q13.33
benign|likely benign
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001287231]|not provided [RCV002069527] Chr22:50447229 [GRCh38]
Chr22:50885658 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+9C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289667]|not provided [RCV002070103] Chr22:50474777 [GRCh38]
Chr22:50913206 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001289905] Chr22:50460304 [GRCh38]
Chr22:50898733 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4834G>A (p.Val1612Met) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001336514]|not provided [RCV001508028] Chr22:50454721 [GRCh38]
Chr22:50893150 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.651G>A (p.Gln217=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001285870]|not provided [RCV002069519] Chr22:50466609 [GRCh38]
Chr22:50905038 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3904+6G>A single nucleotide variant not provided [RCV001507515] Chr22:50457028 [GRCh38]
Chr22:50895457 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2335C>T (p.Leu779Phe) single nucleotide variant not provided [RCV001507520] Chr22:50462266 [GRCh38]
Chr22:50900695 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.53G>C (p.Arg18Pro) single nucleotide variant not provided [RCV001507524] Chr22:50474788 [GRCh38]
Chr22:50913217 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3985G>A (p.Ala1329Thr) single nucleotide variant not provided [RCV001508029] Chr22:50456593 [GRCh38]
Chr22:50895022 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.5411G>C (p.Trp1804Ser) single nucleotide variant not provided [RCV001508026] Chr22:50447562 [GRCh38]
Chr22:50885991 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4087-25C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001796597]|not provided [RCV001539387] Chr22:50456420 [GRCh38]
Chr22:50894849 [GRCh37]
Chr22:22q13.33
benign
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.597A>G (p.Pro199=) single nucleotide variant not provided [RCV001536300] Chr22:50466663 [GRCh38]
Chr22:50905092 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2871G>A (p.Pro957=) single nucleotide variant not provided [RCV001531989] Chr22:50461255 [GRCh38]
Chr22:50899684 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2824C>G (p.Pro942Ala) single nucleotide variant not provided [RCV001507519] Chr22:50461538 [GRCh38]
Chr22:50899967 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5044-253C>T single nucleotide variant not provided [RCV001586634] Chr22:50448903 [GRCh38]
Chr22:50887332 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5364-182A>G single nucleotide variant not provided [RCV001654991] Chr22:50447791 [GRCh38]
Chr22:50886220 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3209G>A (p.Arg1070His) single nucleotide variant not provided [RCV001582168] Chr22:50460346 [GRCh38]
Chr22:50898775 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3044G>A (p.Arg1015Gln) single nucleotide variant not provided [RCV001700651] Chr22:50460636 [GRCh38]
Chr22:50899065 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4266+273A>G single nucleotide variant not provided [RCV001585138] Chr22:50455943 [GRCh38]
Chr22:50894372 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2840-93A>T single nucleotide variant not provided [RCV001583067] Chr22:50461379 [GRCh38]
Chr22:50899808 [GRCh37]
Chr22:22q13.33
likely benign
Single allele single nucleotide variant not provided [RCV001683858] Chr22:50475225 [GRCh38]
Chr22:50913654 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.*148CGCCC[4] microsatellite not provided [RCV001592333] Chr22:50446979..50446980 [GRCh38]
Chr22:50885408..50885409 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5043+160C>T single nucleotide variant not provided [RCV001592417] Chr22:50454352 [GRCh38]
Chr22:50892781 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.280-27C>T single nucleotide variant not provided [RCV001685692] Chr22:50467717 [GRCh38]
Chr22:50906146 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3613G>C (p.Val1205Leu) single nucleotide variant not provided [RCV001507517] Chr22:50459545 [GRCh38]
Chr22:50897974 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3561C>T (p.Tyr1187=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001420701]|not provided [RCV001720286] Chr22:50459597 [GRCh38]
Chr22:50898026 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2106G>A (p.Thr702=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001420702]|not provided [RCV001673056] Chr22:50462580 [GRCh38]
Chr22:50901009 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1192C>T (p.Arg398Cys) single nucleotide variant not provided [RCV001756891] Chr22:50465226 [GRCh38]
Chr22:50903655 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4510G>A (p.Gly1504Ser) single nucleotide variant not provided [RCV001763133] Chr22:50455268 [GRCh38]
Chr22:50893697 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2020G>A (p.Val674Met) single nucleotide variant not provided [RCV001756969] Chr22:50462666 [GRCh38]
Chr22:50901095 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2958C>A (p.Cys986Ter) single nucleotide variant See cases [RCV002253081] Chr22:50461168 [GRCh38]
Chr22:50899597 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_002972.4(SBF1):c.655+9G>A single nucleotide variant not provided [RCV002084560] Chr22:50466596 [GRCh38]
Chr22:50905025 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5463C>G (p.Tyr1821Ter) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001733595] Chr22:50447442 [GRCh38]
Chr22:50885871 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_002972.4(SBF1):c.1361G>A (p.Arg454Gln) single nucleotide variant not provided [RCV001754275] Chr22:50464889 [GRCh38]
Chr22:50903318 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1203+5G>A single nucleotide variant not provided [RCV001773985] Chr22:50465210 [GRCh38]
Chr22:50903639 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5152-13C>T single nucleotide variant not provided [RCV001774068] Chr22:50448457 [GRCh38]
Chr22:50886886 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.217A>G (p.Ile73Val) single nucleotide variant not provided [RCV001766962] Chr22:50467848 [GRCh38]
Chr22:50906277 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5126G>A (p.Arg1709His) single nucleotide variant not provided [RCV001772622] Chr22:50448568 [GRCh38]
Chr22:50886997 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2827A>G (p.Thr943Ala) single nucleotide variant not provided [RCV001764899] Chr22:50461535 [GRCh38]
Chr22:50899964 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5525C>T (p.Ala1842Val) single nucleotide variant not provided [RCV001752220] Chr22:50447380 [GRCh38]
Chr22:50885809 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1982G>A (p.Gly661Glu) single nucleotide variant not provided [RCV001772967] Chr22:50462704 [GRCh38]
Chr22:50901133 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2621G>A (p.Arg874Gln) single nucleotide variant not provided [RCV001771200] Chr22:50461818 [GRCh38]
Chr22:50900247 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4145C>T (p.Ala1382Val) single nucleotide variant not provided [RCV001763186] Chr22:50456337 [GRCh38]
Chr22:50894766 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3287C>T (p.Ser1096Leu) single nucleotide variant not provided [RCV001773388] Chr22:50460156 [GRCh38]
Chr22:50898585 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.263C>T (p.Pro88Leu) single nucleotide variant not provided [RCV001765289] Chr22:50467802 [GRCh38]
Chr22:50906231 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1102C>T (p.Arg368Cys) single nucleotide variant not provided [RCV001773790] Chr22:50465316 [GRCh38]
Chr22:50903745 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.76C>G (p.Gln26Glu) single nucleotide variant not provided [RCV001773986] Chr22:50468441 [GRCh38]
Chr22:50906870 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.4046G>A (p.Arg1349Gln) single nucleotide variant not provided [RCV001774395] Chr22:50456532 [GRCh38]
Chr22:50894961 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3796G>A (p.Gly1266Ser) single nucleotide variant not provided [RCV001768677] Chr22:50459285 [GRCh38]
Chr22:50897714 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4822C>T (p.Pro1608Ser) single nucleotide variant not provided [RCV001767643] Chr22:50454733 [GRCh38]
Chr22:50893162 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5542A>G (p.Met1848Val) single nucleotide variant not provided [RCV001773133] Chr22:50447363 [GRCh38]
Chr22:50885792 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4204G>C (p.Ala1402Pro) single nucleotide variant not provided [RCV001773387] Chr22:50456278 [GRCh38]
Chr22:50894707 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3013G>A (p.Glu1005Lys) single nucleotide variant not provided [RCV001752215] Chr22:50460667 [GRCh38]
Chr22:50899096 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4037G>A (p.Arg1346His) single nucleotide variant not provided [RCV001768560] Chr22:50456541 [GRCh38]
Chr22:50894970 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4051G>A (p.Ala1351Thr) single nucleotide variant not provided [RCV001765529] Chr22:50456527 [GRCh38]
Chr22:50894956 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2461G>A (p.Asp821Asn) single nucleotide variant not provided [RCV001757957] Chr22:50462055 [GRCh38]
Chr22:50900484 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2210dup (p.Ser738fs) duplication not provided [RCV001765897] Chr22:50462390..50462391 [GRCh38]
Chr22:50900819..50900820 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2656C>T (p.Arg886Trp) single nucleotide variant not provided [RCV001760630] Chr22:50461706 [GRCh38]
Chr22:50900135 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3488G>A (p.Arg1163His) single nucleotide variant not provided [RCV001760888] Chr22:50459955 [GRCh38]
Chr22:50898384 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.258G>C (p.Trp86Cys) single nucleotide variant not provided [RCV001763596] Chr22:50467807 [GRCh38]
Chr22:50906236 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5474_5475del (p.Val1825fs) microsatellite not provided [RCV001732780] Chr22:50447430..50447431 [GRCh38]
Chr22:50885859..50885860 [GRCh37]
Chr22:22q13.33
likely pathogenic
NM_002972.4(SBF1):c.2127+5G>A single nucleotide variant not provided [RCV001760661] Chr22:50462554 [GRCh38]
Chr22:50900983 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1636+4C>T single nucleotide variant not provided [RCV001756965] Chr22:50464530 [GRCh38]
Chr22:50902959 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.897+1G>A single nucleotide variant not provided [RCV001752098] Chr22:50466149 [GRCh38]
Chr22:50904578 [GRCh37]
Chr22:22q13.33
conflicting interpretations of pathogenicity|uncertain significance
NM_002972.4(SBF1):c.5008C>T (p.Arg1670Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001802272] Chr22:50454547 [GRCh38]
Chr22:50892976 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4724C>T (p.Pro1575Leu) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001802423]|not provided [RCV001869472] Chr22:50454902 [GRCh38]
Chr22:50893331 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.142-3C>T single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001803483]|not provided [RCV001869460] Chr22:50467926 [GRCh38]
Chr22:50906355 [GRCh37]
Chr22:22q13.33
likely benign|uncertain significance
NM_002972.4(SBF1):c.4513T>G (p.Phe1505Val) single nucleotide variant not provided [RCV001806929] Chr22:50455265 [GRCh38]
Chr22:50893694 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2799G>A (p.Thr933=) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV001802463] Chr22:50461563 [GRCh38]
Chr22:50899992 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1432-3C>T single nucleotide variant not provided [RCV001982656] Chr22:50464741 [GRCh38]
Chr22:50903170 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1652G>A (p.Arg551Gln) single nucleotide variant not provided [RCV001988429] Chr22:50464426 [GRCh38]
Chr22:50902855 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.622C>G (p.Arg208Gly) single nucleotide variant not provided [RCV001930069] Chr22:50466638 [GRCh38]
Chr22:50905067 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1873G>A (p.Val625Ile) single nucleotide variant not provided [RCV001891056] Chr22:50463309 [GRCh38]
Chr22:50901738 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2329C>T (p.Arg777Cys) single nucleotide variant not provided [RCV001912054] Chr22:50462272 [GRCh38]
Chr22:50900701 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1364C>T (p.Ala455Val) single nucleotide variant not provided [RCV001986894] Chr22:50464886 [GRCh38]
Chr22:50903315 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4588A>G (p.Ser1530Gly) single nucleotide variant not provided [RCV001894944] Chr22:50455109 [GRCh38]
Chr22:50893538 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2737G>A (p.Ala913Thr) single nucleotide variant not provided [RCV001929123] Chr22:50461625 [GRCh38]
Chr22:50900054 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1508G>C (p.Arg503Pro) single nucleotide variant not provided [RCV002044873] Chr22:50464662 [GRCh38]
Chr22:50903091 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2555A>G (p.His852Arg) single nucleotide variant not provided [RCV001914636] Chr22:50461961 [GRCh38]
Chr22:50900390 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3242G>A (p.Arg1081Gln) single nucleotide variant not provided [RCV001987835] Chr22:50460313 [GRCh38]
Chr22:50898742 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4709G>A (p.Arg1570His) single nucleotide variant not provided [RCV001949757] Chr22:50454917 [GRCh38]
Chr22:50893346 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.499G>A (p.Val167Met) single nucleotide variant not provided [RCV002022649] Chr22:50467388 [GRCh38]
Chr22:50905817 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4223C>T (p.Ala1408Val) single nucleotide variant not provided [RCV002044874] Chr22:50456259 [GRCh38]
Chr22:50894688 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3656G>A (p.Gly1219Asp) single nucleotide variant not provided [RCV001915476] Chr22:50459502 [GRCh38]
Chr22:50897931 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1332+6C>T single nucleotide variant not provided [RCV001967876] Chr22:50464995 [GRCh38]
Chr22:50903424 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4546G>A (p.Val1516Ile) single nucleotide variant not provided [RCV002042788] Chr22:50455232 [GRCh38]
Chr22:50893661 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5309G>A (p.Arg1770His) single nucleotide variant not provided [RCV001914451] Chr22:50448287 [GRCh38]
Chr22:50886716 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2736C>T (p.Gly912=) single nucleotide variant not provided [RCV001896032] Chr22:50461626 [GRCh38]
Chr22:50900055 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3935G>A (p.Arg1312His) single nucleotide variant not provided [RCV001874367] Chr22:50456643 [GRCh38]
Chr22:50895072 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4708C>T (p.Arg1570Cys) single nucleotide variant not provided [RCV001947759] Chr22:50454918 [GRCh38]
Chr22:50893347 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1399G>A (p.Val467Ile) single nucleotide variant not provided [RCV001928906] Chr22:50464851 [GRCh38]
Chr22:50903280 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.934G>A (p.Val312Ile) single nucleotide variant not provided [RCV001971574] Chr22:50466038 [GRCh38]
Chr22:50904467 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1125C>A (p.Phe375Leu) single nucleotide variant not provided [RCV001915583] Chr22:50465293 [GRCh38]
Chr22:50903722 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5489A>G (p.Lys1830Arg) single nucleotide variant not provided [RCV001945526] Chr22:50447416 [GRCh38]
Chr22:50885845 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3250C>A (p.Pro1084Thr) single nucleotide variant not provided [RCV001896272] Chr22:50460305 [GRCh38]
Chr22:50898734 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4081C>T (p.Leu1361Phe) single nucleotide variant not provided [RCV002023460] Chr22:50456497 [GRCh38]
Chr22:50894926 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4769C>T (p.Thr1590Met) single nucleotide variant not provided [RCV001895724] Chr22:50454857 [GRCh38]
Chr22:50893286 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5593A>G (p.Thr1865Ala) single nucleotide variant not provided [RCV001889535] Chr22:50447231 [GRCh38]
Chr22:50885660 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5672C>T (p.Ser1891Leu) single nucleotide variant not provided [RCV001929643] Chr22:50447152 [GRCh38]
Chr22:50885581 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4204G>A (p.Ala1402Thr) single nucleotide variant not provided [RCV002008363] Chr22:50456278 [GRCh38]
Chr22:50894707 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1207G>C (p.Ala403Pro) single nucleotide variant not provided [RCV001863846] Chr22:50465126 [GRCh38]
Chr22:50903555 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2194C>T (p.Arg732Cys) single nucleotide variant not provided [RCV001929477] Chr22:50462407 [GRCh38]
Chr22:50900836 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1055C>T (p.Pro352Leu) single nucleotide variant not provided [RCV001948959] Chr22:50465797 [GRCh38]
Chr22:50904226 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2221A>G (p.Lys741Glu) single nucleotide variant not provided [RCV002044108] Chr22:50462380 [GRCh38]
Chr22:50900809 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1046C>T (p.Ala349Val) single nucleotide variant not provided [RCV001988372] Chr22:50465806 [GRCh38]
Chr22:50904235 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1193G>A (p.Arg398His) single nucleotide variant not provided [RCV002009135] Chr22:50465225 [GRCh38]
Chr22:50903654 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2128-18C>T single nucleotide variant not provided [RCV002007051] Chr22:50462491 [GRCh38]
Chr22:50900920 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5152-3C>T single nucleotide variant not provided [RCV001987436] Chr22:50448447 [GRCh38]
Chr22:50886876 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4702G>A (p.Gly1568Arg) single nucleotide variant not provided [RCV002045399] Chr22:50454924 [GRCh38]
Chr22:50893353 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3286T>G (p.Ser1096Ala) single nucleotide variant not provided [RCV002025667] Chr22:50460157 [GRCh38]
Chr22:50898586 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5611T>C (p.Phe1871Leu) single nucleotide variant not provided [RCV001970961] Chr22:50447213 [GRCh38]
Chr22:50885642 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3034C>T (p.His1012Tyr) single nucleotide variant not provided [RCV001970968] Chr22:50460646 [GRCh38]
Chr22:50899075 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3248A>G (p.Gln1083Arg) single nucleotide variant not provided [RCV001864239] Chr22:50460307 [GRCh38]
Chr22:50898736 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4490C>T (p.Thr1497Ile) single nucleotide variant not provided [RCV001895577] Chr22:50455288 [GRCh38]
Chr22:50893717 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5180C>G (p.Thr1727Ser) single nucleotide variant not provided [RCV002024700] Chr22:50448416 [GRCh38]
Chr22:50886845 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2161C>T (p.Arg721Cys) single nucleotide variant not provided [RCV002008853] Chr22:50462440 [GRCh38]
Chr22:50900869 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2987A>G (p.Asp996Gly) single nucleotide variant not provided [RCV002008856] Chr22:50460693 [GRCh38]
Chr22:50899122 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1 copy number loss not provided [RCV001832912] Chr22:47567951..51183840 [GRCh37]
Chr22:22q13.31-13.33
pathogenic
NM_002972.4(SBF1):c.3986C>T (p.Ala1329Val) single nucleotide variant not provided [RCV002042794] Chr22:50456592 [GRCh38]
Chr22:50895021 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2630C>T (p.Pro877Leu) single nucleotide variant not provided [RCV002022914] Chr22:50461809 [GRCh38]
Chr22:50900238 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2127+6C>T single nucleotide variant not provided [RCV001967769] Chr22:50462553 [GRCh38]
Chr22:50900982 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5137C>T (p.Arg1713Trp) single nucleotide variant not provided [RCV001968222] Chr22:50448557 [GRCh38]
Chr22:50886986 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4693GAG[1] (p.Glu1566del) microsatellite not provided [RCV001985888] Chr22:50454928..50454930 [GRCh38]
Chr22:50893357..50893359 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.956A>G (p.His319Arg) single nucleotide variant not provided [RCV002040569] Chr22:50466016 [GRCh38]
Chr22:50904445 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.33(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33
pathogenic
NC_000022.10:g.(?_50885571)_(50965732_?)dup duplication not provided [RCV002020698] Chr22:50885571..50965732 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1657A>G (p.Ser553Gly) single nucleotide variant not provided [RCV001912828] Chr22:50464421 [GRCh38]
Chr22:50902850 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2624G>A (p.Arg875Lys) single nucleotide variant not provided [RCV001966496] Chr22:50461815 [GRCh38]
Chr22:50900244 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4342G>A (p.Glu1448Lys) single nucleotide variant not provided [RCV001964432] Chr22:50455507 [GRCh38]
Chr22:50893936 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.887C>T (p.Thr296Ile) single nucleotide variant not provided [RCV002004282] Chr22:50466160 [GRCh38]
Chr22:50904589 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4554+6_4554+9delinsTGTA indel not provided [RCV001889898] Chr22:50455215..50455218 [GRCh38]
Chr22:50893644..50893647 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3958G>A (p.Val1320Met) single nucleotide variant not provided [RCV001908297] Chr22:50456620 [GRCh38]
Chr22:50895049 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1979C>T (p.Pro660Leu) single nucleotide variant not provided [RCV001912138] Chr22:50462707 [GRCh38]
Chr22:50901136 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5524G>A (p.Ala1842Thr) single nucleotide variant not provided [RCV002021732] Chr22:50447381 [GRCh38]
Chr22:50885810 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.214G>A (p.Asp72Asn) single nucleotide variant not provided [RCV001892561] Chr22:50467851 [GRCh38]
Chr22:50906280 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1636+4C>G single nucleotide variant not provided [RCV002041228] Chr22:50464530 [GRCh38]
Chr22:50902959 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5451+20G>T single nucleotide variant not provided [RCV002003258] Chr22:50447502 [GRCh38]
Chr22:50885931 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3107G>A (p.Arg1036Gln) single nucleotide variant not provided [RCV001927016] Chr22:50460573 [GRCh38]
Chr22:50899002 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.473A>G (p.Glu158Gly) single nucleotide variant not provided [RCV001872873] Chr22:50467414 [GRCh38]
Chr22:50905843 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3923G>A (p.Arg1308Gln) single nucleotide variant not provided [RCV001909470] Chr22:50456655 [GRCh38]
Chr22:50895084 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3801CTC[1] (p.Ser1269del) microsatellite not provided [RCV001890886] Chr22:50459275..50459277 [GRCh38]
Chr22:50897704..50897706 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4697A>G (p.Glu1566Gly) single nucleotide variant not provided [RCV002039974] Chr22:50454929 [GRCh38]
Chr22:50893358 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3227C>G (p.Pro1076Arg) single nucleotide variant not provided [RCV002006407] Chr22:50460328 [GRCh38]
Chr22:50898757 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1203+6G>A single nucleotide variant not provided [RCV001890910] Chr22:50465209 [GRCh38]
Chr22:50903638 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3977G>A (p.Gly1326Asp) single nucleotide variant not provided [RCV001968760] Chr22:50456601 [GRCh38]
Chr22:50895030 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3346A>T (p.Met1116Leu) single nucleotide variant not provided [RCV001913227] Chr22:50460097 [GRCh38]
Chr22:50898526 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2662C>T (p.Arg888Cys) single nucleotide variant not provided [RCV002042920] Chr22:50461700 [GRCh38]
Chr22:50900129 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2854G>A (p.Val952Met) single nucleotide variant not provided [RCV001927788] Chr22:50461272 [GRCh38]
Chr22:50899701 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3854C>T (p.Thr1285Met) single nucleotide variant not provided [RCV002007846] Chr22:50457084 [GRCh38]
Chr22:50895513 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4369-11G>A single nucleotide variant not provided [RCV002023128] Chr22:50455420 [GRCh38]
Chr22:50893849 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1330G>A (p.Glu444Lys) single nucleotide variant not provided [RCV002023150] Chr22:50465003 [GRCh38]
Chr22:50903432 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2483G>A (p.Arg828His) single nucleotide variant not provided [RCV002044022] Chr22:50462033 [GRCh38]
Chr22:50900462 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1316C>T (p.Thr439Met) single nucleotide variant not provided [RCV001967749] Chr22:50465017 [GRCh38]
Chr22:50903446 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2023G>C (p.Val675Leu) single nucleotide variant not provided [RCV001948541] Chr22:50462663 [GRCh38]
Chr22:50901092 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2935G>T (p.Asp979Tyr) single nucleotide variant not provided [RCV001893407] Chr22:50461191 [GRCh38]
Chr22:50899620 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3676G>A (p.Ala1226Thr) single nucleotide variant not provided [RCV001908552] Chr22:50459482 [GRCh38]
Chr22:50897911 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5006C>T (p.Pro1669Leu) single nucleotide variant not provided [RCV001873027] Chr22:50454549 [GRCh38]
Chr22:50892978 [GRCh37]
Chr22:22q13.33
uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_002972.4(SBF1):c.3767C>T (p.Ala1256Val) single nucleotide variant not provided [RCV002024190] Chr22:50459314 [GRCh38]
Chr22:50897743 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5410T>C (p.Trp1804Arg) single nucleotide variant not provided [RCV001914133] Chr22:50447563 [GRCh38]
Chr22:50885992 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5212T>C (p.Tyr1738His) single nucleotide variant not provided [RCV002002611] Chr22:50448384 [GRCh38]
Chr22:50886813 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1105G>A (p.Ala369Thr) single nucleotide variant not provided [RCV001948984] Chr22:50465313 [GRCh38]
Chr22:50903742 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1359G>A (p.Met453Ile) single nucleotide variant not provided [RCV002023516] Chr22:50464891 [GRCh38]
Chr22:50903320 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.655+3G>A single nucleotide variant not provided [RCV001895181] Chr22:50466602 [GRCh38]
Chr22:50905031 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3266A>G (p.Gln1089Arg) single nucleotide variant not provided [RCV001912414] Chr22:50460289 [GRCh38]
Chr22:50898718 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2662C>A (p.Arg888Ser) single nucleotide variant not provided [RCV001969795] Chr22:50461700 [GRCh38]
Chr22:50900129 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4682-9T>G single nucleotide variant not provided [RCV001909632] Chr22:50454953 [GRCh38]
Chr22:50893382 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3878C>T (p.Ser1293Leu) single nucleotide variant not provided [RCV002040948] Chr22:50457060 [GRCh38]
Chr22:50895489 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1403A>G (p.Gln468Arg) single nucleotide variant not provided [RCV001894093] Chr22:50464847 [GRCh38]
Chr22:50903276 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5005C>G (p.Pro1669Ala) single nucleotide variant not provided [RCV002006428] Chr22:50454550 [GRCh38]
Chr22:50892979 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4360ACC[1] (p.Thr1455del) microsatellite not provided [RCV002023179] Chr22:50455484..50455486 [GRCh38]
Chr22:50893913..50893915 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3782G>A (p.Arg1261His) single nucleotide variant not provided [RCV001947951] Chr22:50459299 [GRCh38]
Chr22:50897728 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.127C>A (p.Gln43Lys) single nucleotide variant not provided [RCV002022398] Chr22:50468390 [GRCh38]
Chr22:50906819 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4130T>C (p.Ile1377Thr) single nucleotide variant not provided [RCV001968067] Chr22:50456352 [GRCh38]
Chr22:50894781 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5108G>A (p.Arg1703Gln) single nucleotide variant not provided [RCV002023932] Chr22:50448586 [GRCh38]
Chr22:50887015 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5464G>A (p.Asp1822Asn) single nucleotide variant not provided [RCV002022540] Chr22:50447441 [GRCh38]
Chr22:50885870 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1516C>T (p.Pro506Ser) single nucleotide variant not provided [RCV001893125] Chr22:50464654 [GRCh38]
Chr22:50903083 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4703G>A (p.Gly1568Glu) single nucleotide variant not provided [RCV001871030] Chr22:50454923 [GRCh38]
Chr22:50893352 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1610C>G (p.Thr537Ser) single nucleotide variant not provided [RCV002004761] Chr22:50464560 [GRCh38]
Chr22:50902989 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5248C>G (p.Leu1750Val) single nucleotide variant not provided [RCV001891395] Chr22:50448348 [GRCh38]
Chr22:50886777 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4729A>G (p.Arg1577Gly) single nucleotide variant not provided [RCV002002690] Chr22:50454897 [GRCh38]
Chr22:50893326 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3290A>G (p.Glu1097Gly) single nucleotide variant not provided [RCV001912080] Chr22:50460153 [GRCh38]
Chr22:50898582 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3895G>A (p.Ala1299Thr) single nucleotide variant not provided [RCV002040676] Chr22:50457043 [GRCh38]
Chr22:50895472 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4976G>A (p.Arg1659His) single nucleotide variant not provided [RCV002003365] Chr22:50454579 [GRCh38]
Chr22:50893008 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2032A>G (p.Thr678Ala) single nucleotide variant not provided [RCV001945678] Chr22:50462654 [GRCh38]
Chr22:50901083 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1076C>T (p.Ser359Phe) single nucleotide variant not provided [RCV001943836] Chr22:50465776 [GRCh38]
Chr22:50904205 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5043+4C>T single nucleotide variant not provided [RCV001997334] Chr22:50454508 [GRCh38]
Chr22:50892937 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.410C>T (p.Ser137Leu) single nucleotide variant not provided [RCV001990959] Chr22:50467560 [GRCh38]
Chr22:50905989 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4036C>T (p.Arg1346Cys) single nucleotide variant not provided [RCV002015706] Chr22:50456542 [GRCh38]
Chr22:50894971 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4087-9T>A single nucleotide variant not provided [RCV001999702] Chr22:50456404 [GRCh38]
Chr22:50894833 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3212A>G (p.Lys1071Arg) single nucleotide variant not provided [RCV001886641] Chr22:50460343 [GRCh38]
Chr22:50898772 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1294C>T (p.Arg432Cys) single nucleotide variant not provided [RCV002038868] Chr22:50465039 [GRCh38]
Chr22:50903468 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4058A>G (p.Tyr1353Cys) single nucleotide variant not provided [RCV002038521] Chr22:50456520 [GRCh38]
Chr22:50894949 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2738C>T (p.Ala913Val) single nucleotide variant not provided [RCV001888501] Chr22:50461624 [GRCh38]
Chr22:50900053 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1086G>T (p.Met362Ile) single nucleotide variant not provided [RCV001944505] Chr22:50465766 [GRCh38]
Chr22:50904195 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.542G>C (p.Gly181Ala) single nucleotide variant not provided [RCV002036708] Chr22:50467345 [GRCh38]
Chr22:50905774 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3382C>T (p.Arg1128Cys) single nucleotide variant not provided [RCV002017659] Chr22:50460061 [GRCh38]
Chr22:50898490 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.545C>T (p.Ser182Leu) single nucleotide variant not provided [RCV002038977] Chr22:50467342 [GRCh38]
Chr22:50905771 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4522G>A (p.Val1508Ile) single nucleotide variant not provided [RCV001924593] Chr22:50455256 [GRCh38]
Chr22:50893685 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4762A>G (p.Lys1588Glu) single nucleotide variant not provided [RCV002016127] Chr22:50454864 [GRCh38]
Chr22:50893293 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4874C>T (p.Thr1625Met) single nucleotide variant not provided [RCV001877703] Chr22:50454681 [GRCh38]
Chr22:50893110 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50502853)_(51066207_?)dup duplication not provided [RCV001944250] Chr22:50502853..51066207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.722G>A (p.Arg241Gln) single nucleotide variant not provided [RCV002000327] Chr22:50466416 [GRCh38]
Chr22:50904845 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2346T>C (p.Arg782=) single nucleotide variant not provided [RCV001942339] Chr22:50462255 [GRCh38]
Chr22:50900684 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3254C>G (p.Pro1085Arg) single nucleotide variant not provided [RCV001944140] Chr22:50460301 [GRCh38]
Chr22:50898730 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1432-7C>G single nucleotide variant not provided [RCV001906248] Chr22:50464745 [GRCh38]
Chr22:50903174 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1519C>T (p.Arg507Trp) single nucleotide variant not provided [RCV001944297] Chr22:50464651 [GRCh38]
Chr22:50903080 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3113C>T (p.Pro1038Leu) single nucleotide variant not provided [RCV001944301] Chr22:50460567 [GRCh38]
Chr22:50898996 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1837C>T (p.Arg613Cys) single nucleotide variant not provided [RCV001886058] Chr22:50463345 [GRCh38]
Chr22:50901774 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4267-3C>T single nucleotide variant not provided [RCV002038231] Chr22:50455585 [GRCh38]
Chr22:50894014 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.656-6C>G single nucleotide variant not provided [RCV001883201] Chr22:50466488 [GRCh38]
Chr22:50904917 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2270C>T (p.Ala757Val) single nucleotide variant not provided [RCV002048508] Chr22:50462331 [GRCh38]
Chr22:50900760 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1792C>T (p.Arg598Cys) single nucleotide variant not provided [RCV002000955] Chr22:50463390 [GRCh38]
Chr22:50901819 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1313C>T (p.Pro438Leu) single nucleotide variant not provided [RCV001942845] Chr22:50465020 [GRCh38]
Chr22:50903449 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2643+6C>T single nucleotide variant not provided [RCV001994373] Chr22:50461790 [GRCh38]
Chr22:50900219 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.608C>T (p.Ser203Leu) single nucleotide variant not provided [RCV001999370] Chr22:50466652 [GRCh38]
Chr22:50905081 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.413G>A (p.Arg138Gln) single nucleotide variant not provided [RCV001943360] Chr22:50467557 [GRCh38]
Chr22:50905986 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5594C>T (p.Thr1865Met) single nucleotide variant not provided [RCV001943382] Chr22:50447230 [GRCh38]
Chr22:50885659 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1317G>A (p.Thr439=) single nucleotide variant not provided [RCV002039131] Chr22:50465016 [GRCh38]
Chr22:50903445 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1203+4G>C single nucleotide variant not provided [RCV002018954] Chr22:50465211 [GRCh38]
Chr22:50903640 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1876C>T (p.Arg626Cys) single nucleotide variant not provided [RCV001867805] Chr22:50463306 [GRCh38]
Chr22:50901735 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4327G>A (p.Val1443Met) single nucleotide variant not provided [RCV001919796] Chr22:50455522 [GRCh38]
Chr22:50893951 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3023G>A (p.Arg1008His) single nucleotide variant not provided [RCV001955004] Chr22:50460657 [GRCh38]
Chr22:50899086 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.71A>G (p.Gln24Arg) single nucleotide variant not provided [RCV001886953] Chr22:50468446 [GRCh38]
Chr22:50906875 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5312G>A (p.Arg1771His) single nucleotide variant not provided [RCV001941392] Chr22:50448284 [GRCh38]
Chr22:50886713 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1431C>T (p.Asn477=) single nucleotide variant not provided [RCV001886855] Chr22:50464819 [GRCh38]
Chr22:50903248 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4753C>T (p.Arg1585Trp) single nucleotide variant not provided [RCV001878205] Chr22:50454873 [GRCh38]
Chr22:50893302 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4735G>C (p.Val1579Leu) single nucleotide variant not provided [RCV001886427] Chr22:50454891 [GRCh38]
Chr22:50893320 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3397C>T (p.Leu1133Phe) single nucleotide variant not provided [RCV001999521] Chr22:50460046 [GRCh38]
Chr22:50898475 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4040C>A (p.Pro1347Gln) single nucleotide variant not provided [RCV001875522] Chr22:50456538 [GRCh38]
Chr22:50894967 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3158G>A (p.Arg1053Gln) single nucleotide variant not provided [RCV002013891] Chr22:50460397 [GRCh38]
Chr22:50898826 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1900-3C>T single nucleotide variant not provided [RCV001962733] Chr22:50462941 [GRCh38]
Chr22:50901370 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3374C>A (p.Ala1125Asp) single nucleotide variant not provided [RCV001962752] Chr22:50460069 [GRCh38]
Chr22:50898498 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3008G>T (p.Ser1003Ile) single nucleotide variant not provided [RCV001954001] Chr22:50460672 [GRCh38]
Chr22:50899101 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1565C>T (p.Ala522Val) single nucleotide variant not provided [RCV002037539] Chr22:50464605 [GRCh38]
Chr22:50903034 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2116G>A (p.Ala706Thr) single nucleotide variant not provided [RCV002037541] Chr22:50462570 [GRCh38]
Chr22:50900999 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.376C>T (p.Gln126Ter) single nucleotide variant not provided [RCV001942220] Chr22:50467594 [GRCh38]
Chr22:50906023 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.1454C>T (p.Ala485Val) single nucleotide variant not provided [RCV001942605] Chr22:50464716 [GRCh38]
Chr22:50903145 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4129A>G (p.Ile1377Val) single nucleotide variant not provided [RCV001877295] Chr22:50456353 [GRCh38]
Chr22:50894782 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2840-9T>C single nucleotide variant not provided [RCV002029437] Chr22:50461295 [GRCh38]
Chr22:50899724 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4086+6_4086+7del deletion not provided [RCV001901763] Chr22:50456485..50456486 [GRCh38]
Chr22:50894914..50894915 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4403T>C (p.Phe1468Ser) single nucleotide variant not provided [RCV001921675] Chr22:50455375 [GRCh38]
Chr22:50893804 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5043+5G>A single nucleotide variant not provided [RCV002016754] Chr22:50454507 [GRCh38]
Chr22:50892936 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.597A>C (p.Pro199=) single nucleotide variant not provided [RCV001878638] Chr22:50466663 [GRCh38]
Chr22:50905092 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5268_5270del (p.Gln1756_Ser1757delinsHis) deletion not provided [RCV002014177] Chr22:50448326..50448328 [GRCh38]
Chr22:50886755..50886757 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.425C>T (p.Thr142Met) single nucleotide variant not provided [RCV002049258] Chr22:50467545 [GRCh38]
Chr22:50905974 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3054G>A (p.Pro1018=) single nucleotide variant not provided [RCV001976573] Chr22:50460626 [GRCh38]
Chr22:50899055 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3080C>T (p.Thr1027Ile) single nucleotide variant not provided [RCV002026946] Chr22:50460600 [GRCh38]
Chr22:50899029 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3722A>C (p.Gln1241Pro) single nucleotide variant not provided [RCV001996271] Chr22:50459359 [GRCh38]
Chr22:50897788 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2112C>G (p.Asp704Glu) single nucleotide variant not provided [RCV002050757] Chr22:50462574 [GRCh38]
Chr22:50901003 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1537G>A (p.Val513Met) single nucleotide variant not provided [RCV001921786] Chr22:50464633 [GRCh38]
Chr22:50903062 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4926_4927insTCA (p.Glu1642_Pro1643insSer) insertion not provided [RCV001953114] Chr22:50454628..50454629 [GRCh38]
Chr22:50893057..50893058 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3592C>T (p.Arg1198Cys) single nucleotide variant not provided [RCV001953134] Chr22:50459566 [GRCh38]
Chr22:50897995 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2122G>A (p.Ala708Thr) single nucleotide variant not provided [RCV002051501] Chr22:50462564 [GRCh38]
Chr22:50900993 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5633C>T (p.Ser1878Leu) single nucleotide variant not provided [RCV001935087] Chr22:50447191 [GRCh38]
Chr22:50885620 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1564G>A (p.Ala522Thr) single nucleotide variant not provided [RCV001955950] Chr22:50464606 [GRCh38]
Chr22:50903035 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5182G>T (p.Ala1728Ser) single nucleotide variant not provided [RCV002051009] Chr22:50448414 [GRCh38]
Chr22:50886843 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4498G>T (p.Gly1500Trp) single nucleotide variant not provided [RCV001921878] Chr22:50455280 [GRCh38]
Chr22:50893709 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1734G>C (p.Met578Ile) single nucleotide variant not provided [RCV001936472] Chr22:50464344 [GRCh38]
Chr22:50902773 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2344C>T (p.Arg782Cys) single nucleotide variant not provided [RCV001921892] Chr22:50462257 [GRCh38]
Chr22:50900686 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.971C>T (p.Pro324Leu) single nucleotide variant not provided [RCV002016319] Chr22:50466001 [GRCh38]
Chr22:50904430 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5597G>A (p.Arg1866His) single nucleotide variant not provided [RCV001899392] Chr22:50447227 [GRCh38]
Chr22:50885656 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.335G>T (p.Gly112Val) single nucleotide variant not provided [RCV001973067] Chr22:50467635 [GRCh38]
Chr22:50906064 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.622C>A (p.Arg208Ser) single nucleotide variant not provided [RCV001953370] Chr22:50466638 [GRCh38]
Chr22:50905067 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1177C>T (p.Pro393Ser) single nucleotide variant not provided [RCV001978081] Chr22:50465241 [GRCh38]
Chr22:50903670 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.556A>G (p.Ile186Val) single nucleotide variant not provided [RCV002016344] Chr22:50466704 [GRCh38]
Chr22:50905133 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2084G>A (p.Arg695Gln) single nucleotide variant not provided [RCV002033437] Chr22:50462602 [GRCh38]
Chr22:50901031 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.284C>T (p.Thr95Met) single nucleotide variant not provided [RCV002048392] Chr22:50467686 [GRCh38]
Chr22:50906115 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.835A>G (p.Ser279Gly) single nucleotide variant not provided [RCV001977012] Chr22:50466212 [GRCh38]
Chr22:50904641 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.347T>A (p.Leu116Gln) single nucleotide variant not provided [RCV001935933] Chr22:50467623 [GRCh38]
Chr22:50906052 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5401A>G (p.Met1801Val) single nucleotide variant not provided [RCV001953351] Chr22:50447572 [GRCh38]
Chr22:50886001 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1637C>T (p.Thr546Ile) single nucleotide variant not provided [RCV001953382] Chr22:50464441 [GRCh38]
Chr22:50902870 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3179dup (p.Lys1061fs) duplication not provided [RCV001994575] Chr22:50460375..50460376 [GRCh38]
Chr22:50898804..50898805 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.4040C>T (p.Pro1347Leu) single nucleotide variant not provided [RCV002031680] Chr22:50456538 [GRCh38]
Chr22:50894967 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4554+6C>T single nucleotide variant not provided [RCV001876777] Chr22:50455218 [GRCh38]
Chr22:50893647 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2994G>C (p.Glu998Asp) single nucleotide variant not provided [RCV002029938] Chr22:50460686 [GRCh38]
Chr22:50899115 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1571T>G (p.Met524Arg) single nucleotide variant not provided [RCV001971972] Chr22:50464599 [GRCh38]
Chr22:50903028 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50885571)_(51021210_?)del deletion Megaconial type congenital muscular dystrophy [RCV001918329]|not provided [RCV001918328] Chr22:50885571..51021210 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.1070C>T (p.Thr357Ile) single nucleotide variant not provided [RCV001992825] Chr22:50465782 [GRCh38]
Chr22:50904211 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1804G>T (p.Ala602Ser) single nucleotide variant not provided [RCV001975806] Chr22:50463378 [GRCh38]
Chr22:50901807 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1528G>A (p.Glu510Lys) single nucleotide variant not provided [RCV001898474] Chr22:50464642 [GRCh38]
Chr22:50903071 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.655+6C>T single nucleotide variant not provided [RCV001975930] Chr22:50466599 [GRCh38]
Chr22:50905028 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.119C>T (p.Pro40Leu) single nucleotide variant not provided [RCV002051148] Chr22:50468398 [GRCh38]
Chr22:50906827 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3677C>T (p.Ala1226Val) single nucleotide variant not provided [RCV001915865] Chr22:50459481 [GRCh38]
Chr22:50897910 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5300A>C (p.Gln1767Pro) single nucleotide variant not provided [RCV002049931] Chr22:50448296 [GRCh38]
Chr22:50886725 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3334C>T (p.Pro1112Ser) single nucleotide variant not provided [RCV001897279] Chr22:50460109 [GRCh38]
Chr22:50898538 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3058A>G (p.Ile1020Val) single nucleotide variant not provided [RCV002046329] Chr22:50460622 [GRCh38]
Chr22:50899051 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3106C>T (p.Arg1036Trp) single nucleotide variant not provided [RCV001974813] Chr22:50460574 [GRCh38]
Chr22:50899003 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1250T>C (p.Met417Thr) single nucleotide variant not provided [RCV001976124] Chr22:50465083 [GRCh38]
Chr22:50903512 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5223G>C (p.Glu1741Asp) single nucleotide variant not provided [RCV001902873] Chr22:50448373 [GRCh38]
Chr22:50886802 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2612G>A (p.Arg871Gln) single nucleotide variant not provided [RCV001877094] Chr22:50461827 [GRCh38]
Chr22:50900256 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3776C>T (p.Ser1259Leu) single nucleotide variant not provided [RCV001956853] Chr22:50459305 [GRCh38]
Chr22:50897734 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3068C>G (p.Thr1023Ser) single nucleotide variant not provided [RCV001875727] Chr22:50460612 [GRCh38]
Chr22:50899041 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50906785)_(51066207_?)dup duplication Metachromatic leukodystrophy [RCV001900243] Chr22:50906785..51066207 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1165G>A (p.Val389Met) single nucleotide variant not provided [RCV001989569] Chr22:50465253 [GRCh38]
Chr22:50903682 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.947A>G (p.Glu316Gly) single nucleotide variant not provided [RCV002028093] Chr22:50466025 [GRCh38]
Chr22:50904454 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1031A>G (p.Glu344Gly) single nucleotide variant not provided [RCV001952972] Chr22:50465821 [GRCh38]
Chr22:50904250 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5219A>C (p.Gln1740Pro) single nucleotide variant not provided [RCV001883197] Chr22:50448377 [GRCh38]
Chr22:50886806 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3089C>T (p.Ser1030Phe) single nucleotide variant not provided [RCV001981135] Chr22:50460591 [GRCh38]
Chr22:50899020 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1994T>A (p.Phe665Tyr) single nucleotide variant not provided [RCV001961463] Chr22:50462692 [GRCh38]
Chr22:50901121 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.812C>T (p.Pro271Leu) single nucleotide variant not provided [RCV001916477] Chr22:50466235 [GRCh38]
Chr22:50904664 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3397C>G (p.Leu1133Val) single nucleotide variant not provided [RCV001954271] Chr22:50460046 [GRCh38]
Chr22:50898475 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.280-9C>A single nucleotide variant not provided [RCV001881331] Chr22:50467699 [GRCh38]
Chr22:50906128 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3431G>T (p.Arg1144Leu) single nucleotide variant not provided [RCV001997660] Chr22:50460012 [GRCh38]
Chr22:50898441 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.688G>A (p.Ala230Thr) single nucleotide variant not provided [RCV002027088] Chr22:50466450 [GRCh38]
Chr22:50904879 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5263G>A (p.Asp1755Asn) single nucleotide variant not provided [RCV002036820] Chr22:50448333 [GRCh38]
Chr22:50886762 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4235G>A (p.Arg1412His) single nucleotide variant not provided [RCV002015397] Chr22:50456247 [GRCh38]
Chr22:50894676 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2967+17G>A single nucleotide variant not provided [RCV001980703] Chr22:50461142 [GRCh38]
Chr22:50899571 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.992C>T (p.Thr331Met) single nucleotide variant not provided [RCV001980705] Chr22:50465980 [GRCh38]
Chr22:50904409 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3340G>A (p.Asp1114Asn) single nucleotide variant not provided [RCV001981861] Chr22:50460103 [GRCh38]
Chr22:50898532 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4087G>A (p.Gly1363Ser) single nucleotide variant not provided [RCV001994897] Chr22:50456395 [GRCh38]
Chr22:50894824 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3454A>G (p.Ile1152Val) single nucleotide variant not provided [RCV001995838] Chr22:50459989 [GRCh38]
Chr22:50898418 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.869C>T (p.Ala290Val) single nucleotide variant not provided [RCV002031242] Chr22:50466178 [GRCh38]
Chr22:50904607 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1223G>A (p.Arg408His) single nucleotide variant not provided [RCV001957921] Chr22:50465110 [GRCh38]
Chr22:50903539 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1804G>A (p.Ala602Thr) single nucleotide variant not provided [RCV001904770] Chr22:50463378 [GRCh38]
Chr22:50901807 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3283+6G>C single nucleotide variant not provided [RCV002019040] Chr22:50460266 [GRCh38]
Chr22:50898695 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2817G>A (p.Thr939=) single nucleotide variant not provided [RCV001917034] Chr22:50461545 [GRCh38]
Chr22:50899974 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2287C>T (p.Arg763Cys) single nucleotide variant not provided [RCV002010915] Chr22:50462314 [GRCh38]
Chr22:50900743 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5407C>T (p.Pro1803Ser) single nucleotide variant not provided [RCV001971847] Chr22:50447566 [GRCh38]
Chr22:50885995 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.47A>G (p.His16Arg) single nucleotide variant not provided [RCV001884659] Chr22:50474794 [GRCh38]
Chr22:50913223 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1900-14C>A single nucleotide variant not provided [RCV001939315] Chr22:50462952 [GRCh38]
Chr22:50901381 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3882C>T (p.Ala1294=) single nucleotide variant not provided [RCV001950994] Chr22:50457056 [GRCh38]
Chr22:50895485 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2345G>A (p.Arg782His) single nucleotide variant not provided [RCV002047451] Chr22:50462256 [GRCh38]
Chr22:50900685 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1312C>T (p.Pro438Ser) single nucleotide variant not provided [RCV001901058] Chr22:50465021 [GRCh38]
Chr22:50903450 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2848C>T (p.Gln950Ter) single nucleotide variant not provided [RCV001950958] Chr22:50461278 [GRCh38]
Chr22:50899707 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.788+3G>T single nucleotide variant not provided [RCV001978058] Chr22:50466347 [GRCh38]
Chr22:50904776 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3631G>A (p.Gly1211Ser) single nucleotide variant not provided [RCV002033298] Chr22:50459527 [GRCh38]
Chr22:50897956 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5534C>T (p.Thr1845Met) single nucleotide variant not provided [RCV001938735] Chr22:50447371 [GRCh38]
Chr22:50885800 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5408C>T (p.Pro1803Leu) single nucleotide variant not provided [RCV001939325] Chr22:50447565 [GRCh38]
Chr22:50885994 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.565G>T (p.Gly189Trp) single nucleotide variant not provided [RCV001884712] Chr22:50466695 [GRCh38]
Chr22:50905124 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5147G>A (p.Gly1716Asp) single nucleotide variant not provided [RCV001875317] Chr22:50448547 [GRCh38]
Chr22:50886976 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1168C>T (p.Arg390Cys) single nucleotide variant not provided [RCV001897238] Chr22:50465250 [GRCh38]
Chr22:50903679 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4465C>T (p.Arg1489Cys) single nucleotide variant not provided [RCV001976064] Chr22:50455313 [GRCh38]
Chr22:50893742 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3907A>C (p.Lys1303Gln) single nucleotide variant not provided [RCV001981536] Chr22:50456671 [GRCh38]
Chr22:50895100 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3808G>A (p.Ala1270Thr) single nucleotide variant not provided [RCV001999096] Chr22:50459273 [GRCh38]
Chr22:50897702 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1431+6A>T single nucleotide variant not provided [RCV001906721] Chr22:50464813 [GRCh38]
Chr22:50903242 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1967G>A (p.Arg656Gln) single nucleotide variant not provided [RCV001879626] Chr22:50462871 [GRCh38]
Chr22:50901300 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2350G>A (p.Gly784Arg) single nucleotide variant not provided [RCV001996254] Chr22:50462251 [GRCh38]
Chr22:50900680 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4369-3C>T single nucleotide variant not provided [RCV001903491] Chr22:50455412 [GRCh38]
Chr22:50893841 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4931C>T (p.Pro1644Leu) single nucleotide variant not provided [RCV002047956] Chr22:50454624 [GRCh38]
Chr22:50893053 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5593del (p.Thr1865fs) deletion not provided [RCV001976465] Chr22:50447231 [GRCh38]
Chr22:50885660 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2603C>T (p.Ala868Val) single nucleotide variant not provided [RCV001955537] Chr22:50461836 [GRCh38]
Chr22:50900265 [GRCh37]
Chr22:22q13.33
uncertain significance
NC_000022.10:g.(?_50885571)_(50906910_?)del deletion not provided [RCV001972798] Chr22:50885571..50906910 [GRCh37]
Chr22:22q13.33
pathogenic
NM_002972.4(SBF1):c.3934C>T (p.Arg1312Cys) single nucleotide variant not provided [RCV001920114] Chr22:50456644 [GRCh38]
Chr22:50895073 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.89G>A (p.Arg30His) single nucleotide variant not provided [RCV002029546] Chr22:50468428 [GRCh38]
Chr22:50906857 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5420G>A (p.Arg1807His) single nucleotide variant not provided [RCV001920129] Chr22:50447553 [GRCh38]
Chr22:50885982 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4410C>T (p.Arg1470=) single nucleotide variant not provided [RCV002017033] Chr22:50455368 [GRCh38]
Chr22:50893797 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3890G>A (p.Arg1297Gln) single nucleotide variant not provided [RCV001883233] Chr22:50457048 [GRCh38]
Chr22:50895477 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2840-6C>G single nucleotide variant not provided [RCV002034281] Chr22:50461292 [GRCh38]
Chr22:50899721 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1431+4C>T single nucleotide variant not provided [RCV002017733] Chr22:50464815 [GRCh38]
Chr22:50903244 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1089+4G>A single nucleotide variant not provided [RCV002026796] Chr22:50465759 [GRCh38]
Chr22:50904188 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1031A>C (p.Glu344Ala) single nucleotide variant not provided [RCV001883983] Chr22:50465821 [GRCh38]
Chr22:50904250 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV001906041] Chr22:50464674 [GRCh38]
Chr22:50903103 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3274G>A (p.Glu1092Lys) single nucleotide variant not provided [RCV001906198] Chr22:50460281 [GRCh38]
Chr22:50898710 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1096G>A (p.Glu366Lys) single nucleotide variant not provided [RCV001907109] Chr22:50465322 [GRCh38]
Chr22:50903751 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.483T>A (p.Asn161Lys) single nucleotide variant not provided [RCV001960207] Chr22:50467404 [GRCh38]
Chr22:50905833 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3955G>A (p.Asp1319Asn) single nucleotide variant not provided [RCV001924255] Chr22:50456623 [GRCh38]
Chr22:50895052 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5230G>A (p.Val1744Met) single nucleotide variant not provided [RCV001940735] Chr22:50448366 [GRCh38]
Chr22:50886795 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1161C>G (p.His387Gln) single nucleotide variant not provided [RCV001885986] Chr22:50465257 [GRCh38]
Chr22:50903686 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2620C>T (p.Arg874Trp) single nucleotide variant not provided [RCV001959928] Chr22:50461819 [GRCh38]
Chr22:50900248 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3283+5A>G single nucleotide variant not provided [RCV002027020] Chr22:50460267 [GRCh38]
Chr22:50898696 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2853G>C (p.Val951=) single nucleotide variant not provided [RCV001961236] Chr22:50461273 [GRCh38]
Chr22:50899702 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4368+9C>T single nucleotide variant not provided [RCV001976356] Chr22:50455472 [GRCh38]
Chr22:50893901 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5032C>T (p.Arg1678Cys) single nucleotide variant not provided [RCV001957684] Chr22:50454523 [GRCh38]
Chr22:50892952 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1715A>G (p.Tyr572Cys) single nucleotide variant not provided [RCV002013317] Chr22:50464363 [GRCh38]
Chr22:50902792 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5171T>A (p.Leu1724His) single nucleotide variant not provided [RCV001916889] Chr22:50448425 [GRCh38]
Chr22:50886854 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3695C>G (p.Ser1232Cys) single nucleotide variant not provided [RCV002028154] Chr22:50459386 [GRCh38]
Chr22:50897815 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1762G>A (p.Val588Met) single nucleotide variant not provided [RCV002012619] Chr22:50463420 [GRCh38]
Chr22:50901849 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3611C>T (p.Ala1204Val) single nucleotide variant not provided [RCV002030863] Chr22:50459547 [GRCh38]
Chr22:50897976 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3141C>T (p.Ser1047=) single nucleotide variant not provided [RCV001974004] Chr22:50460539 [GRCh38]
Chr22:50898968 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3050C>T (p.Pro1017Leu) single nucleotide variant not provided [RCV001994947] Chr22:50460630 [GRCh38]
Chr22:50899059 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.289C>T (p.Arg97Cys) single nucleotide variant not provided [RCV001900075] Chr22:50467681 [GRCh38]
Chr22:50906110 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1162G>A (p.Val388Ile) single nucleotide variant not provided [RCV001920755] Chr22:50465256 [GRCh38]
Chr22:50903685 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.919C>A (p.Leu307Met) single nucleotide variant not provided [RCV001973447] Chr22:50466053 [GRCh38]
Chr22:50904482 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5626G>A (p.Val1876Met) single nucleotide variant not provided [RCV002011151] Chr22:50447198 [GRCh38]
Chr22:50885627 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2725C>T (p.Arg909Cys) single nucleotide variant not provided [RCV002032261] Chr22:50461637 [GRCh38]
Chr22:50900066 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.4160C>T (p.Ala1387Val) single nucleotide variant not provided [RCV001877881] Chr22:50456322 [GRCh38]
Chr22:50894751 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1031A>T (p.Glu344Val) single nucleotide variant not provided [RCV001897704] Chr22:50465821 [GRCh38]
Chr22:50904250 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5451+17T>G single nucleotide variant not provided [RCV002047684] Chr22:50447505 [GRCh38]
Chr22:50885934 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.1061C>T (p.Thr354Met) single nucleotide variant not provided [RCV001881754] Chr22:50465791 [GRCh38]
Chr22:50904220 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.789-18C>T single nucleotide variant not provided [RCV002127968] Chr22:50466276 [GRCh38]
Chr22:50904705 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4521C>A (p.Pro1507=) single nucleotide variant not provided [RCV002170538] Chr22:50455257 [GRCh38]
Chr22:50893686 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3153G>C (p.Leu1051=) single nucleotide variant not provided [RCV002190697] Chr22:50460402 [GRCh38]
Chr22:50898831 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4041G>A (p.Pro1347=) single nucleotide variant not provided [RCV002111865] Chr22:50456537 [GRCh38]
Chr22:50894966 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5262C>T (p.Ser1754=) single nucleotide variant not provided [RCV002085665] Chr22:50448334 [GRCh38]
Chr22:50886763 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4369-16C>T single nucleotide variant not provided [RCV002125468] Chr22:50455425 [GRCh38]
Chr22:50893854 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5452-13T>C single nucleotide variant not provided [RCV002166458] Chr22:50447466 [GRCh38]
Chr22:50885895 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.450C>T (p.Gly150=) single nucleotide variant not provided [RCV002073778] Chr22:50467437 [GRCh38]
Chr22:50905866 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5535G>A (p.Thr1845=) single nucleotide variant not provided [RCV002085813] Chr22:50447370 [GRCh38]
Chr22:50885799 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4797G>T (p.Ala1599=) single nucleotide variant not provided [RCV002186237] Chr22:50454829 [GRCh38]
Chr22:50893258 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.438+7C>A single nucleotide variant not provided [RCV002071039] Chr22:50467525 [GRCh38]
Chr22:50905954 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.550-14T>C single nucleotide variant not provided [RCV002189970] Chr22:50466724 [GRCh38]
Chr22:50905153 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.656-15C>G single nucleotide variant not provided [RCV002127796] Chr22:50466497 [GRCh38]
Chr22:50904926 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4458C>T (p.Phe1486=) single nucleotide variant not provided [RCV002191707] Chr22:50455320 [GRCh38]
Chr22:50893749 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2631G>A (p.Pro877=) single nucleotide variant not provided [RCV002110934] Chr22:50461808 [GRCh38]
Chr22:50900237 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2703C>T (p.Arg901=) single nucleotide variant not provided [RCV002072467] Chr22:50461659 [GRCh38]
Chr22:50900088 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1899+7C>T single nucleotide variant not provided [RCV002168951] Chr22:50463276 [GRCh38]
Chr22:50901705 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3827-19CT[2] microsatellite not provided [RCV002147726] Chr22:50457125..50457126 [GRCh38]
Chr22:50895554..50895555 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1104C>T (p.Arg368=) single nucleotide variant not provided [RCV002145899] Chr22:50465314 [GRCh38]
Chr22:50903743 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3342C>T (p.Asp1114=) single nucleotide variant not provided [RCV002125173] Chr22:50460101 [GRCh38]
Chr22:50898530 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3726G>A (p.Glu1242=) single nucleotide variant not provided [RCV002128185] Chr22:50459355 [GRCh38]
Chr22:50897784 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+7_55+8delinsAT indel not provided [RCV002126303] Chr22:50474778..50474779 [GRCh38]
Chr22:50913207..50913208 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4830C>T (p.Ser1610=) single nucleotide variant not provided [RCV002109401] Chr22:50454725 [GRCh38]
Chr22:50893154 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3492-10C>T single nucleotide variant not provided [RCV002076284] Chr22:50459676 [GRCh38]
Chr22:50898105 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1637-8C>T single nucleotide variant not provided [RCV002169937] Chr22:50464449 [GRCh38]
Chr22:50902878 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.525T>C (p.Thr175=) single nucleotide variant not provided [RCV002169941] Chr22:50467362 [GRCh38]
Chr22:50905791 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3771C>T (p.Asp1257=) single nucleotide variant not provided [RCV002091645] Chr22:50459310 [GRCh38]
Chr22:50897739 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4682-6G>A single nucleotide variant not provided [RCV002191903] Chr22:50454950 [GRCh38]
Chr22:50893379 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4812+14T>C single nucleotide variant not provided [RCV002210151] Chr22:50454800 [GRCh38]
Chr22:50893229 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.550-6C>T single nucleotide variant not provided [RCV002092162] Chr22:50466716 [GRCh38]
Chr22:50905145 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2913C>T (p.Thr971=) single nucleotide variant not provided [RCV002110609] Chr22:50461213 [GRCh38]
Chr22:50899642 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.747C>T (p.Ala249=) single nucleotide variant not provided [RCV002085289] Chr22:50466391 [GRCh38]
Chr22:50904820 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.279+13C>T single nucleotide variant not provided [RCV002092334] Chr22:50467773 [GRCh38]
Chr22:50906202 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4339C>T (p.Leu1447=) single nucleotide variant not provided [RCV002192711] Chr22:50455510 [GRCh38]
Chr22:50893939 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.656-13C>T single nucleotide variant not provided [RCV002166590] Chr22:50466495 [GRCh38]
Chr22:50904924 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5364-11T>C single nucleotide variant not provided [RCV002145509] Chr22:50447620 [GRCh38]
Chr22:50886049 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.56-17C>T single nucleotide variant not provided [RCV002188072] Chr22:50468478 [GRCh38]
Chr22:50906907 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3284-20C>T single nucleotide variant not provided [RCV002166810] Chr22:50460179 [GRCh38]
Chr22:50898608 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4554+14T>C single nucleotide variant not provided [RCV002166858] Chr22:50455210 [GRCh38]
Chr22:50893639 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1948C>T (p.Leu650=) single nucleotide variant not provided [RCV002110474] Chr22:50462890 [GRCh38]
Chr22:50901319 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3147-11G>A single nucleotide variant not provided [RCV002125109] Chr22:50460419 [GRCh38]
Chr22:50898848 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.417C>G (p.Leu139=) single nucleotide variant not provided [RCV002209164] Chr22:50467553 [GRCh38]
Chr22:50905982 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1900-6C>T single nucleotide variant not provided [RCV002110633] Chr22:50462944 [GRCh38]
Chr22:50901373 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+17A>G single nucleotide variant not provided [RCV002187108] Chr22:50474769 [GRCh38]
Chr22:50913198 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4887C>A (p.Gly1629=) single nucleotide variant not provided [RCV002145836] Chr22:50454668 [GRCh38]
Chr22:50893097 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1912C>T (p.Leu638=) single nucleotide variant not provided [RCV002208953] Chr22:50462926 [GRCh38]
Chr22:50901355 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+19C>T single nucleotide variant not provided [RCV002127374] Chr22:50465744 [GRCh38]
Chr22:50904173 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2967+9C>T single nucleotide variant not provided [RCV002124680] Chr22:50461150 [GRCh38]
Chr22:50899579 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4086+13C>T single nucleotide variant not provided [RCV002206227] Chr22:50456479 [GRCh38]
Chr22:50894908 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3774G>A (p.Ala1258=) single nucleotide variant not provided [RCV002074725] Chr22:50459307 [GRCh38]
Chr22:50897736 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2643+14_2643+31del deletion not provided [RCV002089659] Chr22:50461765..50461782 [GRCh38]
Chr22:50900194..50900211 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.549+9T>C single nucleotide variant not provided [RCV002189869] Chr22:50467329 [GRCh38]
Chr22:50905758 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.396G>T (p.Thr132=) single nucleotide variant not provided [RCV002109597] Chr22:50467574 [GRCh38]
Chr22:50906003 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+17C>T single nucleotide variant not provided [RCV002167440] Chr22:50465746 [GRCh38]
Chr22:50904175 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.898-19C>T single nucleotide variant not provided [RCV002085016] Chr22:50466093 [GRCh38]
Chr22:50904522 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4432C>T (p.Leu1478=) single nucleotide variant not provided [RCV002071523] Chr22:50455346 [GRCh38]
Chr22:50893775 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4087-14C>T single nucleotide variant not provided [RCV002166333] Chr22:50456409 [GRCh38]
Chr22:50894838 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1893C>T (p.Cys631=) single nucleotide variant not provided [RCV002126518] Chr22:50463289 [GRCh38]
Chr22:50901718 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1932G>A (p.Ala644=) single nucleotide variant not provided [RCV002111694] Chr22:50462906 [GRCh38]
Chr22:50901335 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4194A>G (p.Pro1398=) single nucleotide variant not provided [RCV002169233] Chr22:50456288 [GRCh38]
Chr22:50894717 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3904+18C>T single nucleotide variant not provided [RCV002185710] Chr22:50457016 [GRCh38]
Chr22:50895445 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3648T>G (p.Gly1216=) single nucleotide variant not provided [RCV002166210] Chr22:50459510 [GRCh38]
Chr22:50897939 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1161C>T (p.His387=) single nucleotide variant not provided [RCV002088798] Chr22:50465257 [GRCh38]
Chr22:50903686 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3905-11C>A single nucleotide variant not provided [RCV002170083] Chr22:50456684 [GRCh38]
Chr22:50895113 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4875G>A (p.Thr1625=) single nucleotide variant not provided [RCV002191820] Chr22:50454680 [GRCh38]
Chr22:50893109 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3689-10C>T single nucleotide variant not provided [RCV002187989] Chr22:50459402 [GRCh38]
Chr22:50897831 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2826C>G (p.Pro942=) single nucleotide variant not provided [RCV002116991] Chr22:50461536 [GRCh38]
Chr22:50899965 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.417C>T (p.Leu139=) single nucleotide variant not provided [RCV002147425] Chr22:50467553 [GRCh38]
Chr22:50905982 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2136G>T (p.Gly712=) single nucleotide variant not provided [RCV002079607] Chr22:50462465 [GRCh38]
Chr22:50900894 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2157C>T (p.Asp719=) single nucleotide variant not provided [RCV002215957] Chr22:50462444 [GRCh38]
Chr22:50900873 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2396+15G>A single nucleotide variant not provided [RCV002173326] Chr22:50462190 [GRCh38]
Chr22:50900619 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2661G>A (p.Pro887=) single nucleotide variant not provided [RCV002152039] Chr22:50461701 [GRCh38]
Chr22:50900130 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1011+13A>G single nucleotide variant not provided [RCV002079670] Chr22:50465948 [GRCh38]
Chr22:50904377 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.141+13C>T single nucleotide variant not provided [RCV002135129] Chr22:50468363 [GRCh38]
Chr22:50906792 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1204-16T>A single nucleotide variant not provided [RCV002125961] Chr22:50465145 [GRCh38]
Chr22:50903574 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4368+11C>T single nucleotide variant not provided [RCV002194420] Chr22:50455470 [GRCh38]
Chr22:50893899 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.822G>A (p.Leu274=) single nucleotide variant not provided [RCV002132895] Chr22:50466225 [GRCh38]
Chr22:50904654 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3534C>T (p.Asn1178=) single nucleotide variant not provided [RCV002153042] Chr22:50459624 [GRCh38]
Chr22:50898053 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2967+9C>A single nucleotide variant not provided [RCV002116535] Chr22:50461150 [GRCh38]
Chr22:50899579 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1156C>T (p.Leu386=) single nucleotide variant not provided [RCV002127699] Chr22:50465262 [GRCh38]
Chr22:50903691 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3777G>A (p.Ser1259=) single nucleotide variant not provided [RCV002174495] Chr22:50459304 [GRCh38]
Chr22:50897733 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.522C>T (p.Cys174=) single nucleotide variant not provided [RCV002149735] Chr22:50467365 [GRCh38]
Chr22:50905794 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1287G>T (p.Val429=) single nucleotide variant not provided [RCV002170985] Chr22:50465046 [GRCh38]
Chr22:50903475 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5232G>A (p.Val1744=) single nucleotide variant not provided [RCV002171423] Chr22:50448364 [GRCh38]
Chr22:50886793 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1969-20T>C single nucleotide variant not provided [RCV002171469] Chr22:50462737 [GRCh38]
Chr22:50901166 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3901C>A (p.Arg1301=) single nucleotide variant not provided [RCV002095061] Chr22:50457037 [GRCh38]
Chr22:50895466 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4326C>T (p.Ser1442=) single nucleotide variant not provided [RCV002113812] Chr22:50455523 [GRCh38]
Chr22:50893952 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2128-20T>C single nucleotide variant not provided [RCV002076955] Chr22:50462493 [GRCh38]
Chr22:50900922 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5373G>A (p.Glu1791=) single nucleotide variant not provided [RCV002215901] Chr22:50447600 [GRCh38]
Chr22:50886029 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.550-20C>T single nucleotide variant not provided [RCV002112683] Chr22:50466730 [GRCh38]
Chr22:50905159 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.315G>A (p.Glu105=) single nucleotide variant not provided [RCV002208284] Chr22:50467655 [GRCh38]
Chr22:50906084 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2569+14G>T single nucleotide variant not provided [RCV002148221] Chr22:50461933 [GRCh38]
Chr22:50900362 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.412C>A (p.Arg138=) single nucleotide variant not provided [RCV002171232] Chr22:50467558 [GRCh38]
Chr22:50905987 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3795C>T (p.Ser1265=) single nucleotide variant not provided [RCV002113547] Chr22:50459286 [GRCh38]
Chr22:50897715 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+20C>T single nucleotide variant not provided [RCV002192056] Chr22:50465743 [GRCh38]
Chr22:50904172 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5604T>G (p.Val1868=) single nucleotide variant not provided [RCV002171373] Chr22:50447220 [GRCh38]
Chr22:50885649 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2968-11del deletion not provided [RCV002196390] Chr22:50460723 [GRCh38]
Chr22:50899152 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.741C>T (p.Ala247=) single nucleotide variant not provided [RCV002174490] Chr22:50466397 [GRCh38]
Chr22:50904826 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2664C>G (p.Arg888=) single nucleotide variant not provided [RCV002150207] Chr22:50461698 [GRCh38]
Chr22:50900127 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1365G>A (p.Ala455=) single nucleotide variant not provided [RCV002173987] Chr22:50464885 [GRCh38]
Chr22:50903314 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2421C>T (p.Ser807=) single nucleotide variant not provided [RCV002197003] Chr22:50462095 [GRCh38]
Chr22:50900524 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2256G>A (p.Thr752=) single nucleotide variant not provided [RCV002153792] Chr22:50462345 [GRCh38]
Chr22:50900774 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1275T>C (p.Phe425=) single nucleotide variant not provided [RCV002194495] Chr22:50465058 [GRCh38]
Chr22:50903487 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1056G>T (p.Pro352=) single nucleotide variant not provided [RCV002113800] Chr22:50465796 [GRCh38]
Chr22:50904225 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.550-19G>A single nucleotide variant not provided [RCV002196452] Chr22:50466729 [GRCh38]
Chr22:50905158 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3306C>T (p.Ser1102=) single nucleotide variant not provided [RCV002110173] Chr22:50460137 [GRCh38]
Chr22:50898566 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3284-13C>T single nucleotide variant not provided [RCV002173000] Chr22:50460172 [GRCh38]
Chr22:50898601 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5565C>T (p.Asp1855=) single nucleotide variant not provided [RCV002168136] Chr22:50447340 [GRCh38]
Chr22:50885769 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.788+17C>T single nucleotide variant not provided [RCV002133252] Chr22:50466333 [GRCh38]
Chr22:50904762 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1416G>A (p.Glu472=) single nucleotide variant not provided [RCV002174893] Chr22:50464834 [GRCh38]
Chr22:50903263 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.468C>T (p.His156=) single nucleotide variant not provided [RCV002131491] Chr22:50467419 [GRCh38]
Chr22:50905848 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.141+12G>A single nucleotide variant not provided [RCV002131503] Chr22:50468364 [GRCh38]
Chr22:50906793 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.846G>A (p.Thr282=) single nucleotide variant not provided [RCV002095550] Chr22:50466201 [GRCh38]
Chr22:50904630 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1467A>C (p.Val489=) single nucleotide variant not provided [RCV002171864] Chr22:50464703 [GRCh38]
Chr22:50903132 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4653C>T (p.Leu1551=) single nucleotide variant not provided [RCV002085475] Chr22:50455044 [GRCh38]
Chr22:50893473 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2967+16C>T single nucleotide variant not provided [RCV002132189] Chr22:50461143 [GRCh38]
Chr22:50899572 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3492-19C>T single nucleotide variant not provided [RCV002115800] Chr22:50459685 [GRCh38]
Chr22:50898114 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1899+14T>C single nucleotide variant not provided [RCV002135280] Chr22:50463269 [GRCh38]
Chr22:50901698 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4426C>G (p.Arg1476Gly) single nucleotide variant not provided [RCV002152296] Chr22:50455352 [GRCh38]
Chr22:50893781 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1968+15G>A single nucleotide variant not provided [RCV002095796] Chr22:50462855 [GRCh38]
Chr22:50901284 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1968+9T>G single nucleotide variant not provided [RCV002078047] Chr22:50462861 [GRCh38]
Chr22:50901290 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4488C>T (p.His1496=) single nucleotide variant not provided [RCV002125777] Chr22:50455290 [GRCh38]
Chr22:50893719 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2396+7_2396+18del deletion not provided [RCV002170760] Chr22:50462187..50462198 [GRCh38]
Chr22:50900616..50900627 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2739G>A (p.Ala913=) single nucleotide variant not provided [RCV002151244] Chr22:50461623 [GRCh38]
Chr22:50900052 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3339C>G (p.Ser1113=) single nucleotide variant not provided [RCV002078066] Chr22:50460104 [GRCh38]
Chr22:50898533 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2457C>T (p.Thr819=) single nucleotide variant not provided [RCV002174703] Chr22:50462059 [GRCh38]
Chr22:50900488 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.393G>A (p.Lys131=) single nucleotide variant not provided [RCV002145923] Chr22:50467577 [GRCh38]
Chr22:50906006 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2430G>A (p.Thr810=) single nucleotide variant not provided [RCV002078098] Chr22:50462086 [GRCh38]
Chr22:50900515 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3510C>T (p.Ile1170=) single nucleotide variant not provided [RCV002194693] Chr22:50459648 [GRCh38]
Chr22:50898077 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1041C>T (p.Asp347=) single nucleotide variant not provided [RCV002115246] Chr22:50465811 [GRCh38]
Chr22:50904240 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5452-14G>C single nucleotide variant not provided [RCV002114543] Chr22:50447467 [GRCh38]
Chr22:50885896 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+15T>C single nucleotide variant not provided [RCV002116320] Chr22:50465748 [GRCh38]
Chr22:50904177 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1614C>T (p.Thr538=) single nucleotide variant not provided [RCV002133327] Chr22:50464556 [GRCh38]
Chr22:50902985 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2319C>T (p.Ser773=) single nucleotide variant not provided [RCV002111145] Chr22:50462282 [GRCh38]
Chr22:50900711 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1665G>A (p.Leu555=) single nucleotide variant not provided [RCV002092794] Chr22:50464413 [GRCh38]
Chr22:50902842 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4272C>T (p.His1424=) single nucleotide variant not provided [RCV002192966] Chr22:50455577 [GRCh38]
Chr22:50894006 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4146A>G (p.Ala1382=) single nucleotide variant not provided [RCV002194226] Chr22:50456336 [GRCh38]
Chr22:50894765 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3283+9G>A single nucleotide variant not provided [RCV002094774] Chr22:50460263 [GRCh38]
Chr22:50898692 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4555-6G>A single nucleotide variant not provided [RCV002115322] Chr22:50455148 [GRCh38]
Chr22:50893577 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.55+13G>A single nucleotide variant not provided [RCV002214758] Chr22:50474773 [GRCh38]
Chr22:50913202 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.549+10G>A single nucleotide variant not provided [RCV002212614] Chr22:50467328 [GRCh38]
Chr22:50905757 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.891G>A (p.Gln297=) single nucleotide variant not provided [RCV002212700] Chr22:50466156 [GRCh38]
Chr22:50904585 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2128-12G>C single nucleotide variant not provided [RCV002169335] Chr22:50462485 [GRCh38]
Chr22:50900914 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2409T>C (p.Ser803=) single nucleotide variant not provided [RCV002133878] Chr22:50462107 [GRCh38]
Chr22:50900536 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.357A>G (p.Thr119=) single nucleotide variant not provided [RCV002076520] Chr22:50467613 [GRCh38]
Chr22:50906042 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5601C>T (p.Arg1867=) single nucleotide variant not provided [RCV002170795] Chr22:50447223 [GRCh38]
Chr22:50885652 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1332+19C>T single nucleotide variant not provided [RCV002086385] Chr22:50464982 [GRCh38]
Chr22:50903411 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5613C>T (p.Phe1871=) single nucleotide variant not provided [RCV002211651] Chr22:50447211 [GRCh38]
Chr22:50885640 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4137A>G (p.Val1379=) single nucleotide variant not provided [RCV002171377] Chr22:50456345 [GRCh38]
Chr22:50894774 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.655+9G>C single nucleotide variant not provided [RCV002171901] Chr22:50466596 [GRCh38]
Chr22:50905025 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3283+11G>A single nucleotide variant not provided [RCV002114793] Chr22:50460261 [GRCh38]
Chr22:50898690 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4881C>T (p.Ala1627=) single nucleotide variant not provided [RCV002172233] Chr22:50454674 [GRCh38]
Chr22:50893103 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2840-6C>T single nucleotide variant not provided [RCV002086520] Chr22:50461292 [GRCh38]
Chr22:50899721 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3705C>T (p.Asp1235=) single nucleotide variant not provided [RCV002151030] Chr22:50459376 [GRCh38]
Chr22:50897805 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.213C>T (p.Thr71=) single nucleotide variant not provided [RCV002171488] Chr22:50467852 [GRCh38]
Chr22:50906281 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5172T>G (p.Leu1724=) single nucleotide variant not provided [RCV002116046] Chr22:50448424 [GRCh38]
Chr22:50886853 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1258C>T (p.Leu420=) single nucleotide variant not provided [RCV002172446] Chr22:50465075 [GRCh38]
Chr22:50903504 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5584-12G>C single nucleotide variant not provided [RCV002125731] Chr22:50447252 [GRCh38]
Chr22:50885681 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5452-6C>T single nucleotide variant not provided [RCV002113165] Chr22:50447459 [GRCh38]
Chr22:50885888 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3054G>T (p.Pro1018=) single nucleotide variant not provided [RCV002093280] Chr22:50460626 [GRCh38]
Chr22:50899055 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3492-11C>T single nucleotide variant not provided [RCV002194474] Chr22:50459677 [GRCh38]
Chr22:50898106 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3120C>G (p.Val1040=) single nucleotide variant not provided [RCV002195135] Chr22:50460560 [GRCh38]
Chr22:50898989 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3075G>A (p.Ala1025=) single nucleotide variant not provided [RCV002212119] Chr22:50460605 [GRCh38]
Chr22:50899034 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4266+17G>A single nucleotide variant not provided [RCV002097079] Chr22:50456199 [GRCh38]
Chr22:50894628 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1632C>T (p.Pro544=) single nucleotide variant not provided [RCV002130232] Chr22:50464538 [GRCh38]
Chr22:50902967 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.280-13del deletion not provided [RCV002076837] Chr22:50467703 [GRCh38]
Chr22:50906132 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5100C>G (p.Thr1700=) single nucleotide variant not provided [RCV002095847] Chr22:50448594 [GRCh38]
Chr22:50887023 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2644-7C>T single nucleotide variant not provided [RCV002130363] Chr22:50461725 [GRCh38]
Chr22:50900154 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.439-17C>T single nucleotide variant not provided [RCV002150840] Chr22:50467465 [GRCh38]
Chr22:50905894 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.439-20C>T single nucleotide variant not provided [RCV002131739] Chr22:50467468 [GRCh38]
Chr22:50905897 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4041G>T (p.Pro1347=) single nucleotide variant not provided [RCV002195269] Chr22:50456537 [GRCh38]
Chr22:50894966 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1432-12G>A single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV002227294]|not provided [RCV002115086] Chr22:50464750 [GRCh38]
Chr22:50903179 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2570-18A>G single nucleotide variant not provided [RCV002194103] Chr22:50461887 [GRCh38]
Chr22:50900316 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3588C>T (p.Cys1196=) single nucleotide variant not provided [RCV002172800] Chr22:50459570 [GRCh38]
Chr22:50897999 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5363+7G>A single nucleotide variant not provided [RCV002218039] Chr22:50448226 [GRCh38]
Chr22:50886655 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5007G>A (p.Pro1669=) single nucleotide variant not provided [RCV002157295] Chr22:50454548 [GRCh38]
Chr22:50892977 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4026G>A (p.Pro1342=) single nucleotide variant not provided [RCV002159449] Chr22:50456552 [GRCh38]
Chr22:50894981 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2643+8G>C single nucleotide variant not provided [RCV002099605] Chr22:50461788 [GRCh38]
Chr22:50900217 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1579G>A (p.Ala527Thr) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV002244121] Chr22:50464591 [GRCh38]
Chr22:50903020 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2644-6G>A single nucleotide variant not provided [RCV002101829] Chr22:50461724 [GRCh38]
Chr22:50900153 [GRCh37]
Chr22:22q13.33
likely benign
Single allele duplication not provided [RCV002227667] Chr22:50023390..50594061 [GRCh38]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.666C>T (p.Asn222=) single nucleotide variant not provided [RCV002216813] Chr22:50466472 [GRCh38]
Chr22:50904901 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2570-5C>T single nucleotide variant not provided [RCV002177378] Chr22:50461874 [GRCh38]
Chr22:50900303 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2644-12G>C single nucleotide variant not provided [RCV002181364] Chr22:50461730 [GRCh38]
Chr22:50900159 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.655+20C>T single nucleotide variant not provided [RCV002121604] Chr22:50466585 [GRCh38]
Chr22:50905014 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1204-12T>C single nucleotide variant not provided [RCV002177702] Chr22:50465141 [GRCh38]
Chr22:50903570 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.279+11G>A single nucleotide variant not provided [RCV002141409] Chr22:50467775 [GRCh38]
Chr22:50906204 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5151+11G>A single nucleotide variant not provided [RCV002179378] Chr22:50448532 [GRCh38]
Chr22:50886961 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4956C>T (p.Gly1652=) single nucleotide variant not provided [RCV002160283] Chr22:50454599 [GRCh38]
Chr22:50893028 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5151+8_5151+10del deletion not provided [RCV002179894] Chr22:50448533..50448535 [GRCh38]
Chr22:50886962..50886964 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5583+14G>A single nucleotide variant not provided [RCV002160397] Chr22:50447308 [GRCh38]
Chr22:50885737 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.550-20C>G single nucleotide variant not provided [RCV002137938] Chr22:50466730 [GRCh38]
Chr22:50905159 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1114C>T (p.Leu372=) single nucleotide variant not provided [RCV002217389] Chr22:50465304 [GRCh38]
Chr22:50903733 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4266+16C>T single nucleotide variant not provided [RCV002082248] Chr22:50456200 [GRCh38]
Chr22:50894629 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1716C>T (p.Tyr572=) single nucleotide variant not provided [RCV002100822] Chr22:50464362 [GRCh38]
Chr22:50902791 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4555-14C>T single nucleotide variant not provided [RCV002141843] Chr22:50455156 [GRCh38]
Chr22:50893585 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4369-10G>T single nucleotide variant not provided [RCV002221134] Chr22:50455419 [GRCh38]
Chr22:50893848 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4147C>T (p.Arg1383Trp) single nucleotide variant Charcot-Marie-Tooth disease type 4B3 [RCV002221387] Chr22:50456335 [GRCh38]
Chr22:50894764 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.2937C>T (p.Asp979=) single nucleotide variant not provided [RCV002178160] Chr22:50461189 [GRCh38]
Chr22:50899618 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1333-6C>T single nucleotide variant not provided [RCV002139978] Chr22:50464923 [GRCh38]
Chr22:50903352 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.897+18T>C single nucleotide variant not provided [RCV002158812] Chr22:50466132 [GRCh38]
Chr22:50904561 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+13G>A single nucleotide variant not provided [RCV002200929] Chr22:50465750 [GRCh38]
Chr22:50904179 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3740C>G (p.Ala1247Gly) single nucleotide variant Peripheral neuropathy [RCV002222763] Chr22:50459341 [GRCh38]
Chr22:50897770 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.288G>A (p.Thr96=) single nucleotide variant not provided [RCV002180547] Chr22:50467682 [GRCh38]
Chr22:50906111 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3984C>T (p.Asp1328=) single nucleotide variant not provided [RCV002159419] Chr22:50456594 [GRCh38]
Chr22:50895023 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1203+16G>C single nucleotide variant not provided [RCV002144292] Chr22:50465199 [GRCh38]
Chr22:50903628 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2604C>T (p.Ala868=) single nucleotide variant not provided [RCV002177051] Chr22:50461835 [GRCh38]
Chr22:50900264 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3689-15C>T single nucleotide variant not provided [RCV002123242] Chr22:50459407 [GRCh38]
Chr22:50897836 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4816C>T (p.Leu1606=) single nucleotide variant not provided [RCV002155839] Chr22:50454739 [GRCh38]
Chr22:50893168 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+13G>C single nucleotide variant not provided [RCV002201533] Chr22:50465750 [GRCh38]
Chr22:50904179 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5152-10C>T single nucleotide variant not provided [RCV002182844] Chr22:50448454 [GRCh38]
Chr22:50886883 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.864C>A (p.Val288=) single nucleotide variant not provided [RCV002083302] Chr22:50466183 [GRCh38]
Chr22:50904612 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1761C>T (p.Ala587=) single nucleotide variant not provided [RCV002159863] Chr22:50463421 [GRCh38]
Chr22:50901850 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1011+19A>T single nucleotide variant not provided [RCV002203728] Chr22:50465942 [GRCh38]
Chr22:50904371 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2988C>T (p.Asp996=) single nucleotide variant not provided [RCV002200042] Chr22:50460692 [GRCh38]
Chr22:50899121 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4008C>T (p.Asn1336=) single nucleotide variant not provided [RCV002183250] Chr22:50456570 [GRCh38]
Chr22:50894999 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3009C>T (p.Ser1003=) single nucleotide variant not provided [RCV002154496] Chr22:50460671 [GRCh38]
Chr22:50899100 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3159G>T (p.Arg1053=) single nucleotide variant not provided [RCV002121981] Chr22:50460396 [GRCh38]
Chr22:50898825 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2968-15C>T single nucleotide variant not provided [RCV002163805] Chr22:50460727 [GRCh38]
Chr22:50899156 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2781C>T (p.Gly927=) single nucleotide variant not provided [RCV002098556] Chr22:50461581 [GRCh38]
Chr22:50900010 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2121C>A (p.Pro707=) single nucleotide variant not provided [RCV002200325] Chr22:50462565 [GRCh38]
Chr22:50900994 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4401C>T (p.Pro1467=) single nucleotide variant not provided [RCV002162122] Chr22:50455377 [GRCh38]
Chr22:50893806 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3900C>G (p.Pro1300=) single nucleotide variant not provided [RCV002136188] Chr22:50457038 [GRCh38]
Chr22:50895467 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.39C>T (p.Phe13=) single nucleotide variant not provided [RCV002164029] Chr22:50474802 [GRCh38]
Chr22:50913231 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4554+12_4554+13insGGA insertion not provided [RCV002162360] Chr22:50455211..50455212 [GRCh38]
Chr22:50893640..50893641 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.141+14G>A single nucleotide variant not provided [RCV002164161] Chr22:50468362 [GRCh38]
Chr22:50906791 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2436C>T (p.Ser812=) single nucleotide variant not provided [RCV002164188] Chr22:50462080 [GRCh38]
Chr22:50900509 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4554+12G>A single nucleotide variant not provided [RCV002176464] Chr22:50455212 [GRCh38]
Chr22:50893641 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4035G>T (p.Leu1345=) single nucleotide variant not provided [RCV002204786] Chr22:50456543 [GRCh38]
Chr22:50894972 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3663C>T (p.Phe1221=) single nucleotide variant not provided [RCV002176685] Chr22:50459495 [GRCh38]
Chr22:50897924 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4203C>T (p.Pro1401=) single nucleotide variant not provided [RCV002122726] Chr22:50456279 [GRCh38]
Chr22:50894708 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.2517G>A (p.Thr839=) single nucleotide variant not provided [RCV002218009] Chr22:50461999 [GRCh38]
Chr22:50900428 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2163C>A (p.Arg721=) single nucleotide variant not provided [RCV002082940] Chr22:50462438 [GRCh38]
Chr22:50900867 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1492C>T (p.Leu498=) single nucleotide variant not provided [RCV002143994] Chr22:50464678 [GRCh38]
Chr22:50903107 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2634C>T (p.Pro878=) single nucleotide variant not provided [RCV002204809] Chr22:50461805 [GRCh38]
Chr22:50900234 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1131G>A (p.Gln377=) single nucleotide variant not provided [RCV002182314] Chr22:50465287 [GRCh38]
Chr22:50903716 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.42G>A (p.Gly14=) single nucleotide variant not provided [RCV002161018] Chr22:50474799 [GRCh38]
Chr22:50913228 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3491+9C>T single nucleotide variant not provided [RCV002182417] Chr22:50459943 [GRCh38]
Chr22:50898372 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3826+19A>G single nucleotide variant not provided [RCV002142488] Chr22:50459236 [GRCh38]
Chr22:50897665 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1969-13C>T single nucleotide variant not provided [RCV002144376] Chr22:50462730 [GRCh38]
Chr22:50901159 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3904+13G>T single nucleotide variant not provided [RCV002121483] Chr22:50457021 [GRCh38]
Chr22:50895450 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4659T>C (p.Ser1553=) single nucleotide variant not provided [RCV002121490] Chr22:50455038 [GRCh38]
Chr22:50893467 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3146+9C>T single nucleotide variant not provided [RCV002142600] Chr22:50460525 [GRCh38]
Chr22:50898954 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2301C>T (p.Leu767=) single nucleotide variant not provided [RCV002156290] Chr22:50462300 [GRCh38]
Chr22:50900729 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4806C>T (p.Asp1602=) single nucleotide variant not provided [RCV002177579] Chr22:50454820 [GRCh38]
Chr22:50893249 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3447C>G (p.Pro1149=) single nucleotide variant not provided [RCV002081583] Chr22:50459996 [GRCh38]
Chr22:50898425 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1176C>T (p.His392=) single nucleotide variant not provided [RCV002179265] Chr22:50465242 [GRCh38]
Chr22:50903671 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1050C>T (p.Phe350=) single nucleotide variant not provided [RCV002177604] Chr22:50465802 [GRCh38]
Chr22:50904231 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2535C>T (p.Ser845=) single nucleotide variant not provided [RCV002201965] Chr22:50461981 [GRCh38]
Chr22:50900410 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2565G>A (p.Val855=) single nucleotide variant not provided [RCV002159552] Chr22:50461951 [GRCh38]
Chr22:50900380 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2001C>T (p.Tyr667=) single nucleotide variant not provided [RCV002202058] Chr22:50462685 [GRCh38]
Chr22:50901114 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3310C>T (p.Leu1104=) single nucleotide variant not provided [RCV002102265] Chr22:50460133 [GRCh38]
Chr22:50898562 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2397-11C>T single nucleotide variant not provided [RCV002180974] Chr22:50462130 [GRCh38]
Chr22:50900559 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5584-13C>T single nucleotide variant not provided [RCV002142927] Chr22:50447253 [GRCh38]
Chr22:50885682 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2502G>A (p.Val834=) single nucleotide variant not provided [RCV002154620] Chr22:50462014 [GRCh38]
Chr22:50900443 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5130C>G (p.Leu1710=) single nucleotide variant not provided [RCV002177860] Chr22:50448564 [GRCh38]
Chr22:50886993 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1617G>A (p.Val539=) single nucleotide variant not provided [RCV002083997] Chr22:50464553 [GRCh38]
Chr22:50902982 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1012-11T>G single nucleotide variant not provided [RCV002202126] Chr22:50465851 [GRCh38]
Chr22:50904280 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4836G>A (p.Val1612=) single nucleotide variant not provided [RCV002202138] Chr22:50454719 [GRCh38]
Chr22:50893148 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4371G>A (p.Val1457=) single nucleotide variant not provided [RCV002221114] Chr22:50455407 [GRCh38]
Chr22:50893836 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5044-17A>G single nucleotide variant not provided [RCV002200477] Chr22:50448667 [GRCh38]
Chr22:50887096 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3491+10G>A single nucleotide variant not provided [RCV002158435] Chr22:50459942 [GRCh38]
Chr22:50898371 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1911T>G (p.Ser637=) single nucleotide variant not provided [RCV002139807] Chr22:50462927 [GRCh38]
Chr22:50901356 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3384C>T (p.Arg1128=) single nucleotide variant not provided [RCV002143206] Chr22:50460059 [GRCh38]
Chr22:50898488 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.660C>T (p.Ile220=) single nucleotide variant not provided [RCV002143211] Chr22:50466478 [GRCh38]
Chr22:50904907 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2880G>A (p.Ala960=) single nucleotide variant not provided [RCV002156931] Chr22:50461246 [GRCh38]
Chr22:50899675 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3826+17del deletion not provided [RCV002118616] Chr22:50459238 [GRCh38]
Chr22:50897667 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3905-19C>T single nucleotide variant not provided [RCV002123658] Chr22:50456692 [GRCh38]
Chr22:50895121 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2643+15T>C single nucleotide variant not provided [RCV002136720] Chr22:50461781 [GRCh38]
Chr22:50900210 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.5110G>A (p.Val1704Met) single nucleotide variant not provided [RCV002200961] Chr22:50448584 [GRCh38]
Chr22:50887013 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.555G>A (p.Thr185=) single nucleotide variant not provided [RCV002123961] Chr22:50466705 [GRCh38]
Chr22:50905134 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.788+10G>A single nucleotide variant not provided [RCV002136889] Chr22:50466340 [GRCh38]
Chr22:50904769 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3146+17C>T single nucleotide variant not provided [RCV002099829] Chr22:50460517 [GRCh38]
Chr22:50898946 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2839+14CT[2] microsatellite not provided [RCV002179146] Chr22:50461504..50461505 [GRCh38]
Chr22:50899933..50899934 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1089+14C>T single nucleotide variant not provided [RCV002161565] Chr22:50465749 [GRCh38]
Chr22:50904178 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3147-6C>T single nucleotide variant not provided [RCV002155742] Chr22:50460414 [GRCh38]
Chr22:50898843 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1917C>T (p.Asp639=) single nucleotide variant not provided [RCV002103710] Chr22:50462921 [GRCh38]
Chr22:50901350 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2643+7G>A single nucleotide variant not provided [RCV002119495] Chr22:50461789 [GRCh38]
Chr22:50900218 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4555-20C>G single nucleotide variant not provided [RCV002135618] Chr22:50455162 [GRCh38]
Chr22:50893591 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4269C>T (p.Ile1423=) single nucleotide variant not provided [RCV002103426] Chr22:50455580 [GRCh38]
Chr22:50894009 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3492-18G>A single nucleotide variant not provided [RCV002143144] Chr22:50459684 [GRCh38]
Chr22:50898113 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1090-5C>T single nucleotide variant not provided [RCV002135737] Chr22:50465333 [GRCh38]
Chr22:50903762 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2952C>T (p.Arg984=) single nucleotide variant not provided [RCV002177490] Chr22:50461174 [GRCh38]
Chr22:50899603 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2589C>T (p.Ile863=) single nucleotide variant not provided [RCV002100303] Chr22:50461850 [GRCh38]
Chr22:50900279 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1333-4dup duplication not provided [RCV002117802] Chr22:50464920..50464921 [GRCh38]
Chr22:50903349..50903350 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.56-19C>T single nucleotide variant not provided [RCV002143390] Chr22:50468480 [GRCh38]
Chr22:50906909 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3345C>T (p.Arg1115=) single nucleotide variant not provided [RCV002117898] Chr22:50460098 [GRCh38]
Chr22:50898527 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.4140C>T (p.Phe1380=) single nucleotide variant not provided [RCV002202268] Chr22:50456342 [GRCh38]
Chr22:50894771 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3735G>A (p.Leu1245=) single nucleotide variant not provided [RCV002123308] Chr22:50459346 [GRCh38]
Chr22:50897775 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3147-13_3147-12del microsatellite not provided [RCV002220902] Chr22:50460420..50460421 [GRCh38]
Chr22:50898849..50898850 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4812+19C>T single nucleotide variant not provided [RCV002141075] Chr22:50454795 [GRCh38]
Chr22:50893224 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2919G>T (p.Val973=) single nucleotide variant not provided [RCV002183589] Chr22:50461207 [GRCh38]
Chr22:50899636 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4087-4T>C single nucleotide variant not provided [RCV002181489] Chr22:50456399 [GRCh38]
Chr22:50894828 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3867C>A (p.Pro1289=) single nucleotide variant not provided [RCV002123815] Chr22:50457071 [GRCh38]
Chr22:50895500 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1333-20C>T single nucleotide variant not provided [RCV002118426] Chr22:50464937 [GRCh38]
Chr22:50903366 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.837C>T (p.Ser279=) single nucleotide variant not provided [RCV002181330] Chr22:50466210 [GRCh38]
Chr22:50904639 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2644-6G>C single nucleotide variant not provided [RCV002183868] Chr22:50461724 [GRCh38]
Chr22:50900153 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.1749+12G>C single nucleotide variant not provided [RCV002084372] Chr22:50464317 [GRCh38]
Chr22:50902746 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4989C>G (p.Pro1663=) single nucleotide variant not provided [RCV002123899] Chr22:50454566 [GRCh38]
Chr22:50892995 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3801C>T (p.Phe1267=) single nucleotide variant not provided [RCV002122427] Chr22:50459280 [GRCh38]
Chr22:50897709 [GRCh37]
Chr22:22q13.33
benign
NM_002972.4(SBF1):c.3146+15C>T single nucleotide variant not provided [RCV002139875] Chr22:50460519 [GRCh38]
Chr22:50898948 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4398C>T (p.Asp1466=) single nucleotide variant not provided [RCV002157410] Chr22:50455380 [GRCh38]
Chr22:50893809 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.5583+13C>T single nucleotide variant not provided [RCV002184328] Chr22:50447309 [GRCh38]
Chr22:50885738 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.3315C>T (p.Thr1105=) single nucleotide variant not provided [RCV002219798] Chr22:50460128 [GRCh38]
Chr22:50898557 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2205A>G (p.Pro735=) single nucleotide variant not provided [RCV002180272] Chr22:50462396 [GRCh38]
Chr22:50900825 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4635T>G (p.Arg1545=) single nucleotide variant not provided [RCV002181963] Chr22:50455062 [GRCh38]
Chr22:50893491 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2835C>A (p.Pro945=) single nucleotide variant not provided [RCV002184552] Chr22:50461527 [GRCh38]
Chr22:50899956 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.1432-20C>T single nucleotide variant not provided [RCV002103243] Chr22:50464758 [GRCh38]
Chr22:50903187 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.189G>A (p.Pro63=) single nucleotide variant not provided [RCV002119280] Chr22:50467876 [GRCh38]
Chr22:50906305 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.2968-20_2968-19del deletion not provided [RCV002144597] Chr22:50460731..50460732 [GRCh38]
Chr22:50899160..50899161 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.141+14G>C single nucleotide variant not provided [RCV002182457] Chr22:50468362 [GRCh38]
Chr22:50906791 [GRCh37]
Chr22:22q13.33
likely benign
NM_002972.4(SBF1):c.4801G>A (p.Glu1601Lys) single nucleotide variant not provided [RCV002261648] Chr22:50454825 [GRCh38]
Chr22:50893254 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3655G>A (p.Gly1219Ser) single nucleotide variant not provided [RCV002261649] Chr22:50459503 [GRCh38]
Chr22:50897932 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.3572G>A (p.Arg1191His) single nucleotide variant not provided [RCV002263301] Chr22:50459586 [GRCh38]
Chr22:50898015 [GRCh37]
Chr22:22q13.33
uncertain significance
NM_002972.4(SBF1):c.5470C>T (p.Arg1824Cys) single nucleotide variant Peripheral neuropathy [RCV002267190] Chr22:50447435 [GRCh38]
Chr22:50885864 [GRCh37]
Chr22:22q13.33
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10542 AgrOrtholog
COSMIC SBF1 COSMIC
Ensembl Genes ENSG00000100241 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000252027 ENTREZGENE
  ENSP00000252027.8 UniProtKB/TrEMBL
  ENSP00000370196 ENTREZGENE
  ENSP00000370196.2 UniProtKB/Swiss-Prot
  ENSP00000401538.2 UniProtKB/TrEMBL
  ENSP00000508668.1 UniProtKB/TrEMBL
  ENSP00000508737.1 UniProtKB/TrEMBL
  ENSP00000508847.1 UniProtKB/TrEMBL
  ENSP00000508863.1 UniProtKB/TrEMBL
  ENSP00000508964.1 UniProtKB/TrEMBL
  ENSP00000509009.1 UniProtKB/TrEMBL
  ENSP00000509035.1 UniProtKB/TrEMBL
  ENSP00000509074.1 UniProtKB/TrEMBL
  ENSP00000509117 ENTREZGENE
  ENSP00000509117.1 UniProtKB/Swiss-Prot
  ENSP00000509215.1 UniProtKB/TrEMBL
  ENSP00000509356.1 UniProtKB/TrEMBL
  ENSP00000509419.1 UniProtKB/TrEMBL
  ENSP00000509430.1 UniProtKB/TrEMBL
  ENSP00000509462.1 UniProtKB/TrEMBL
  ENSP00000509511.1 UniProtKB/TrEMBL
  ENSP00000509558.1 UniProtKB/TrEMBL
  ENSP00000509640.1 UniProtKB/TrEMBL
  ENSP00000509653.1 UniProtKB/TrEMBL
  ENSP00000509742.1 UniProtKB/TrEMBL
  ENSP00000509911.1 UniProtKB/TrEMBL
  ENSP00000509915.1 UniProtKB/TrEMBL
  ENSP00000509940.1 UniProtKB/TrEMBL