SGCG (sarcoglycan gamma) - Rat Genome Database

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Gene: SGCG (sarcoglycan gamma) Homo sapiens
Analyze
Symbol: SGCG
Name: sarcoglycan gamma
RGD ID: 1347979
HGNC Page HGNC
Description: Predicted to be involved in cardiac muscle tissue development and heart contraction. Predicted to localize to sarcoglycan complex and sarcolemma. Implicated in autosomal recessive limb-girdle muscular dystrophy type 2C and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 35 kDa dystrophin-associated glycoprotein; 35DAG; 35kD dystrophin-associated glycoprotein; A4; DAGA4; DMDA; DMDA1; gamma sarcoglycan; gamma-sarcoglycan; gamma-SG; LGMD2C; LGMDR5; MAM; MGC130048; sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein); SCARMD2; SCG3; TYPE
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1323,180,952 - 23,325,165 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1323,180,979 - 23,325,162 (+)EnsemblGRCh38hg38GRCh38
GRCh381323,160,508 - 23,325,162 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371323,734,647 - 23,899,301 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361322,653,091 - 22,797,304 (+)NCBINCBI36hg18NCBI36
Build 341322,653,090 - 22,797,304NCBI
Celera134,818,082 - 4,962,307 (+)NCBI
Cytogenetic Map13q12.12NCBI
HuRef134,568,485 - 4,711,933 (+)NCBIHuRef
CHM1_11323,723,673 - 23,867,900 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7481775   PMID:7668303   PMID:8105688   PMID:8641426   PMID:8900232   PMID:8923014   PMID:8968757   PMID:9864373   PMID:10629222   PMID:10714584   PMID:10767327   PMID:10942431  
PMID:10993904   PMID:12189167   PMID:12477932   PMID:14506720   PMID:14960875   PMID:15479193   PMID:15489334   PMID:15954112   PMID:16344560   PMID:16832103   PMID:16883602   PMID:18996010  
PMID:19770540   PMID:20301582   PMID:20345928   PMID:20350330   PMID:20379614   PMID:21668797   PMID:21738484   PMID:21832049   PMID:21873635   PMID:22004471   PMID:22524166   PMID:23291589  
PMID:23300278   PMID:23414517   PMID:24534832   PMID:24552312   PMID:25605665   PMID:27560143   PMID:27759885   PMID:31682967   PMID:32296183   PMID:32527767  


Genomics

Comparative Map Data
SGCG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1323,180,952 - 23,325,165 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1323,180,979 - 23,325,162 (+)EnsemblGRCh38hg38GRCh38
GRCh381323,160,508 - 23,325,162 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371323,734,647 - 23,899,301 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361322,653,091 - 22,797,304 (+)NCBINCBI36hg18NCBI36
Build 341322,653,090 - 22,797,304NCBI
Celera134,818,082 - 4,962,307 (+)NCBI
Cytogenetic Map13q12.12NCBI
HuRef134,568,485 - 4,711,933 (+)NCBIHuRef
CHM1_11323,723,673 - 23,867,900 (+)NCBICHM1_1
Sgcg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391461,456,555 - 61,495,939 (-)NCBIGRCm39mm39
GRCm39 Ensembl1461,456,564 - 61,495,939 (-)Ensembl
GRCm381461,219,106 - 61,275,062 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1461,219,115 - 61,258,490 (-)EnsemblGRCm38mm10GRCm38
MGSCv371461,837,952 - 61,877,327 (-)NCBIGRCm37mm9NCBIm37
MGSCv361460,175,169 - 60,212,543 (-)NCBImm8
MGSCv361452,317,272 - 52,354,896 (-)NCBImm8
Celera1458,986,681 - 59,013,511 (-)NCBICelera
Cytogenetic Map14D1NCBI
Sgcg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21535,388,836 - 35,435,072 (-)NCBI
Rnor_6.0 Ensembl1541,549,331 - 41,595,345 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01541,549,330 - 41,595,275 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01545,357,059 - 45,401,752 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41540,363,607 - 40,410,061 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11540,379,307 - 40,425,761 (-)NCBI
Celera1535,086,619 - 35,133,591 (-)NCBICelera
Cytogenetic Map15p12NCBI
Sgcg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554973,615,003 - 3,701,300 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554973,592,041 - 3,702,780 (+)NCBIChiLan1.0ChiLan1.0
SGCG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11322,767,914 - 22,932,350 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1322,810,771 - 22,932,350 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0134,471,680 - 4,638,419 (+)NCBIMhudiblu_PPA_v0panPan3
SGCG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12515,300,303 - 15,429,555 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2515,249,622 - 15,430,044 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2515,385,366 - 15,463,994 (-)NCBI
ROS_Cfam_1.02515,438,637 - 15,566,980 (-)NCBI
UMICH_Zoey_3.12515,313,964 - 15,391,928 (-)NCBI
UNSW_CanFamBas_1.02515,315,358 - 15,394,278 (-)NCBI
UU_Cfam_GSD_1.02515,371,563 - 15,450,196 (-)NCBI
Dog Cytomap25q21-q23NCBI
Sgcg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945117,471,929 - 117,579,002 (-)NCBI
SpeTri2.0NW_0049366882,083,930 - 2,191,206 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SGCG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1112,310,280 - 2,380,054 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2111,615,434 - 1,649,827 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SGCG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.133,117,708 - 3,216,776 (+)NCBI
ChlSab1.1 Ensembl33,135,446 - 3,215,553 (+)Ensembl
Sgcg
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462477614,396,560 - 14,547,188 (-)NCBI

Position Markers
D13S232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,799,868 - 23,799,978UniSTSGRCh37
Build 361322,697,868 - 22,697,978RGDNCBI36
Celera134,862,873 - 4,862,983RGD
Cytogenetic Map13q12UniSTS
HuRef134,613,256 - 4,613,366UniSTS
Marshfield Genetic Map136.99RGD
Marshfield Genetic Map136.99UniSTS
deCODE Assembly Map138.68UniSTS
RH119579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,873,884 - 23,874,170UniSTSGRCh37
Build 361322,771,884 - 22,772,170RGDNCBI36
Celera134,936,897 - 4,937,183RGD
Cytogenetic Map13q12UniSTS
HuRef134,687,047 - 4,687,333UniSTS
RH119231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,880,736 - 23,881,009UniSTSGRCh37
Build 361322,778,736 - 22,779,009RGDNCBI36
Celera134,943,737 - 4,944,010RGD
Cytogenetic Map13q12UniSTS
HuRef134,693,883 - 4,694,156UniSTS
D13S1033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,774,644 - 23,774,809UniSTSGRCh37
Build 361322,672,644 - 22,672,809RGDNCBI36
Celera134,837,656 - 4,837,821RGD
Cytogenetic Map13q12UniSTS
HuRef134,588,054 - 4,588,219UniSTS
D13S1037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,878,638 - 23,878,784UniSTSGRCh37
Build 361322,776,638 - 22,776,784RGDNCBI36
Celera134,941,641 - 4,941,787RGD
Cytogenetic Map13q12UniSTS
HuRef134,691,787 - 4,691,933UniSTS
D13S905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,887,579 - 23,887,730UniSTSGRCh37
Build 361322,785,579 - 22,785,730RGDNCBI36
Celera134,950,581 - 4,950,732RGD
Cytogenetic Map13q12UniSTS
HuRef134,700,724 - 4,700,875UniSTS
Whitehead-RH Map1354.3UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13163.5UniSTS
SGC35673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,898,750 - 23,898,963UniSTSGRCh37
Build 361322,796,750 - 22,796,963RGDNCBI36
Celera134,961,753 - 4,961,966RGD
Cytogenetic Map13q12UniSTS
HuRef134,711,379 - 4,711,592UniSTS
GeneMap99-GB4 RH Map1357.32UniSTS
Whitehead-RH Map1353.9UniSTS
NCBI RH Map13150.6UniSTS
STS-U34976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371323,898,847 - 23,899,070UniSTSGRCh37
Build 361322,796,847 - 22,797,070RGDNCBI36
Celera134,961,850 - 4,962,073RGD
Cytogenetic Map13q12UniSTS
HuRef134,711,476 - 4,711,699UniSTS
GeneMap99-GB4 RH Map1350.27UniSTS
NCBI RH Map13131.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:713
Count of miRNA genes:428
Interacting mature miRNAs:453
Transcripts:ENST00000218867, ENST00000537476, ENST00000545013
Prediction methods: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 90 966 2 19 3 973 1252 6 18 87 195 21 174 846
Low 1659 1173 396 137 182 13 2925 905 2204 101 923 623 125 1 995 1671 1 1
Below cutoff 521 490 920 168 906 149 421 25 1437 220 339 616 25 34 269 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH007330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA897096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U34976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218867   ⟹   ENSP00000218867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1323,180,952 - 23,325,165 (+)Ensembl
RefSeq Acc Id: NM_000231   ⟹   NP_000222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,180,979 - 23,325,162 (+)NCBI
GRCh371323,755,060 - 23,899,304 (+)ENTREZGENE
Build 361322,653,091 - 22,797,304 (+)NCBI Archive
HuRef134,568,485 - 4,711,933 (+)ENTREZGENE
CHM1_11323,723,673 - 23,867,900 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378244   ⟹   NP_001365173
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,160,508 - 23,325,162 (+)NCBI
RefSeq Acc Id: NM_001378245   ⟹   NP_001365174
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,180,936 - 23,325,162 (+)NCBI
RefSeq Acc Id: NM_001378246   ⟹   NP_001365175
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,180,979 - 23,325,162 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_000222   ⟸   NM_000231
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001365173   ⟸   NM_001378244
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001365174   ⟸   NM_001378245
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365175   ⟸   NM_001378246
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000218867   ⟸   ENST00000218867

Promoters
RGD ID:7226007
Promoter ID:EPDNEW_H18749
Type:initiation region
Name:SGCG_1
Description:sarcoglycan gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18750  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,160,508 - 23,160,568EPDNEW
RGD ID:7226009
Promoter ID:EPDNEW_H18750
Type:initiation region
Name:SGCG_2
Description:sarcoglycan gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18749  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,180,979 - 23,181,039EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000231.2(SGCG):c.129A>G (p.Leu43=) single nucleotide variant not provided [RCV000547365] Chr13:23203823 [GRCh38]
Chr13:23777962 [GRCh37]
Chr13:13q12.12
likely benign
SGCG, 1-BP DEL, 525T deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000002081] Chr13:13q12 pathogenic
SGCG, 2-BP DEL, 801TC deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000002082] Chr13:13q12 pathogenic
SGCG, 2-BP DEL, 793TG deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000002084] Chr13:13q12 pathogenic
NM_000231.2(SGCG):c.87dup (p.Gly30fs) duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000002085] Chr13:23203780..23203781 [GRCh38]
Chr13:23777919..23777920 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.439G>A (p.Gly147Ser) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000550075] Chr13:23279412 [GRCh38]
Chr13:23853551 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000002083]|not provided [RCV001090241] Chr13:23324513 [GRCh38]
Chr13:23898652 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000002086]|not provided [RCV000078408] Chr13:23324452 [GRCh38]
Chr13:23898591 [GRCh37]
Chr13:22796591 [NCBI36]
Chr13:13q12.12
pathogenic|likely pathogenic|not provided
NM_000231.3(SGCG):c.196-6195C>T single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000670536] Chr13:23228416 [GRCh38]
Chr13:23802555 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|See cases [RCV000051232] Chr13:22904496..24490885 [GRCh38]
Chr13:23478635..25065023 [GRCh37]
Chr13:22376635..23963023 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1 copy number loss See cases [RCV000051233] Chr13:22992823..24316005 [GRCh38]
Chr13:23566962..24890143 [GRCh37]
Chr13:22464962..23788143 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 copy number gain See cases [RCV000051234] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|See cases [RCV000051235] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3 copy number gain See cases [RCV000051307] Chr13:22941375..24286142 [GRCh38]
Chr13:23515514..24860280 [GRCh37]
Chr13:22413514..23758280 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3 copy number gain See cases [RCV000051308] Chr13:22980339..24363444 [GRCh38]
Chr13:23554478..24937582 [GRCh37]
Chr13:22452478..23835582 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 copy number gain See cases [RCV000051309] Chr13:22992623..24336746 [GRCh38]
Chr13:23566762..24910884 [GRCh37]
Chr13:22464762..23808884 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12
pathogenic
GRCh38/hg38 13q12.12(chr13:22672788-23489498)x3 copy number gain See cases [RCV000051982] Chr13:22672788..23489498 [GRCh38]
Chr13:23246927..24063637 [GRCh37]
Chr13:22144927..22961637 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:23172478-23671209)x3 copy number gain See cases [RCV000051983] Chr13:23172478..23671209 [GRCh38]
Chr13:23746617..24245348 [GRCh37]
Chr13:22644617..23143348 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-23499449)x1 copy number loss See cases [RCV000053282] Chr13:22992823..23499449 [GRCh38]
Chr13:23566962..24073588 [GRCh37]
Chr13:22464962..22971588 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_000231.2(SGCG):c.653T>C (p.Ile218Thr) single nucleotide variant Sarcoglycanopathy [RCV001113156]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000662008]|not provided [RCV000713259] Chr13:23320711 [GRCh38]
Chr13:23894850 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.*13C>T single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000393997]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000304530]|Sarcoglycanopathy [RCV001114521]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000398630]|not specified [RCV000078402] Chr13:23324554 [GRCh38]
Chr13:23898693 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_000231.3(SGCG):c.228T>C (p.Asp76=) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000355948]|Sarcoglycanopathy [RCV000393920]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001272916]|not provided [RCV000710214]|not specified [RCV000078403] Chr13:23234643 [GRCh38]
Chr13:23808782 [GRCh37]
Chr13:13q12.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000231.3(SGCG):c.312T>G (p.Leu104=) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000302440]|Sarcoglycanopathy [RCV001094096]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000360063]|not provided [RCV000710215]|not specified [RCV000078404] Chr13:23250644 [GRCh38]
Chr13:23824783 [GRCh37]
Chr13:13q12.12
benign
NM_000231.3(SGCG):c.347G>A (p.Arg116His) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000325049]|Sarcoglycanopathy [RCV001094097]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000270116]|not specified [RCV000078405] Chr13:23250679 [GRCh38]
Chr13:23824818 [GRCh37]
Chr13:13q12.12
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000231.2(SGCG):c.703-18T>C single nucleotide variant not specified [RCV000078406] Chr13:23324350 [GRCh38]
Chr13:23898489 [GRCh37]
Chr13:13q12.12
benign
NM_000231.3(SGCG):c.705T>C (p.Leu235=) single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000293880]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000278365]|Sarcoglycanopathy [RCV001113157]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000373060]|not provided [RCV000710216]|not specified [RCV000078407] Chr13:23324370 [GRCh38]
Chr13:23898509 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_000231.2(SGCG):c.435C>T (p.Asn145=) single nucleotide variant Sarcoglycanopathy [RCV001111148]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001084225]|not provided [RCV000524864]|not specified [RCV000118333] Chr13:23279408 [GRCh38]
Chr13:23853547 [GRCh37]
Chr13:13q12.12
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 13q12.12(chr13:23106962-23856032)x1 copy number loss See cases [RCV000133647] Chr13:23106962..23856032 [GRCh38]
Chr13:23681101..24430171 [GRCh37]
Chr13:22579101..23328171 [NCBI36]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.195+4_195+7del microsatellite Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000190623]|not provided [RCV000713256] Chr13:23203889..23203892 [GRCh38]
Chr13:23778028..23778031 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000231.2(SGCG):c.735dup (p.Lys246fs) duplication not provided [RCV000180113] Chr13:23324397..23324398 [GRCh38]
Chr13:23898536..23898537 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.833G>A (p.Gly278Asp) single nucleotide variant not provided [RCV001310674] Chr13:23324498 [GRCh38]
Chr13:23898637 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 copy number loss See cases [RCV000051235] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22943845-23221349)x3 copy number gain See cases [RCV000134426] Chr13:22943845..23221349 [GRCh38]
Chr13:23517984..23795488 [GRCh37]
Chr13:22415984..22693488 [NCBI36]
Chr13:13q12.12
benign
GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1 copy number loss See cases [RCV000134057] Chr13:22992950..24336636 [GRCh38]
Chr13:23567089..24910774 [GRCh37]
Chr13:22465089..23808774 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1 copy number loss See cases [RCV000134882] Chr13:23045243..24253602 [GRCh38]
Chr13:23619382..24827740 [GRCh37]
Chr13:22517382..23725740 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3 copy number gain See cases [RCV000135612] Chr13:22764286..24444616 [GRCh38]
Chr13:23338425..25018754 [GRCh37]
Chr13:22236425..23916754 [NCBI36]
Chr13:13q12.12
likely benign
GRCh38/hg38 13q12.12(chr13:22822881-23533846)x1 copy number loss See cases [RCV000135940] Chr13:22822881..23533846 [GRCh38]
Chr13:23397020..24107985 [GRCh37]
Chr13:22295020..23005985 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 copy number gain See cases [RCV000138208] Chr13:22980365..24370481 [GRCh38]
Chr13:23554504..24944619 [GRCh37]
Chr13:22452504..23842619 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22980365-23533846)x1 copy number loss See cases [RCV000137737] Chr13:22980365..23533846 [GRCh38]
Chr13:23554504..24107985 [GRCh37]
Chr13:22452504..23005985 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11
pathogenic
GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3 copy number gain See cases [RCV000138877] Chr13:22943845..24355293 [GRCh38]
Chr13:23517984..24929431 [GRCh37]
Chr13:22415984..23827431 [NCBI36]
Chr13:13q12.12
uncertain significance|conflicting data from submitters
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3 copy number gain See cases [RCV000140092] Chr13:22959219..24384434 [GRCh38]
Chr13:23533358..24958572 [GRCh37]
Chr13:22431358..23856572 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3 copy number gain See cases [RCV000139968] Chr13:22980365..24336546 [GRCh38]
Chr13:23554504..24910684 [GRCh37]
Chr13:22452504..23808684 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3 copy number gain See cases [RCV000139971] Chr13:22943845..24336546 [GRCh38]
Chr13:23517984..24910684 [GRCh37]
Chr13:22415984..23808684 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 copy number loss See cases [RCV000143197] Chr13:19671934..24985872 [GRCh38]
Chr13:20246074..25560010 [GRCh37]
Chr13:19144074..24458010 [NCBI36]
Chr13:13q12.11-12.13
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000348757]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000988963]|not specified [RCV000153942] Chr13:23324525 [GRCh38]
Chr13:23898664 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.58A>G (p.Asn20Asp) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000818118]|not provided [RCV000175560] Chr13:23203752 [GRCh38]
Chr13:23777891 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 copy number gain See cases [RCV000148116] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
NM_000231.2(SGCG):c.525del (p.Phe175fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000169675]|not provided [RCV000713258] Chr13:23295430 [GRCh38]
Chr13:23869569 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.407A>G (p.Gln136Arg) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000798846]|not provided [RCV000178736] Chr13:23279380 [GRCh38]
Chr13:23853519 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.438C>T (p.Asp146=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001081116]|not provided [RCV000178737] Chr13:23279411 [GRCh38]
Chr13:23853550 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.636A>G (p.Gln212=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001061828]|not provided [RCV000179735] Chr13:23320694 [GRCh38]
Chr13:23894833 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000260683]|not provided [RCV000723533] Chr13:23320639 [GRCh38]
Chr13:23894778 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.2(SGCG):c.385+2T>G single nucleotide variant not provided [RCV000268479] Chr13:23250719 [GRCh38]
Chr13:23824858 [GRCh37]
Chr13:13q12.12
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23515553-24927971)x1 copy number loss See cases [RCV000258794] Chr13:23515553..24927971 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.158T>C (p.Leu53Pro) single nucleotide variant not provided [RCV000366203] Chr13:23203852 [GRCh38]
Chr13:23777991 [GRCh37]
Chr13:13q12.12
pathogenic
GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1 copy number loss See cases [RCV000446032] Chr13:23671134..24896556 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.690T>A (p.Ser230Arg) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000211579] Chr13:23320748 [GRCh38]
Chr13:23894887 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.2(SGCG):c.386-1G>A single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000669493] Chr13:23279358 [GRCh38]
Chr13:23853497 [GRCh37]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3 copy number gain Premature ovarian failure [RCV000225145] Chr13:23368834..24815661 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.596G>A (p.Arg199Gln) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000385415]|Sarcoglycanopathy [RCV001094119]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000330774]|not provided [RCV000405333] Chr13:23320654 [GRCh38]
Chr13:23894793 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000399428]|Sarcoglycanopathy [RCV001094189]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000338071]|not specified [RCV000309697] Chr13:23324497 [GRCh38]
Chr13:23898636 [GRCh37]
Chr13:13q12.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.195+1G>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000340955]|not provided [RCV000725317] Chr13:23203890 [GRCh38]
Chr13:23778029 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.2(SGCG):c.578+1G>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000669411] Chr13:23295488 [GRCh38]
Chr13:23869627 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.721del (p.Thr241fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000669602] Chr13:23324384 [GRCh38]
Chr13:23898523 [GRCh37]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3 copy number gain See cases [RCV000240032] Chr13:23671134..25009594 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.*10G>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000284464]|Sarcoglycanopathy [RCV000339387]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001274913]|not specified [RCV000241662] Chr13:23324551 [GRCh38]
Chr13:23898690 [GRCh37]
Chr13:13q12.12
benign|uncertain significance
NM_000231.2(SGCG):c.505+46T>A single nucleotide variant not specified [RCV000253800] Chr13:23279524 [GRCh38]
Chr13:23853663 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.386-30A>G single nucleotide variant not provided [RCV000829705]|not specified [RCV000244291] Chr13:23279329 [GRCh38]
Chr13:23853468 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.860G>A (p.Ser287Asn) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001081162]|not provided [RCV000710217]|not specified [RCV000245291] Chr13:23324525 [GRCh38]
Chr13:23898664 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.102C>T (p.Arg34=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001086699]|not provided [RCV000727510]|not specified [RCV000252809] Chr13:23203796 [GRCh38]
Chr13:23777935 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.579-22G>T single nucleotide variant not provided [RCV000829192]|not specified [RCV000245615] Chr13:23320615 [GRCh38]
Chr13:23894754 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_000231.2(SGCG):c.706G>A (p.Val236Met) single nucleotide variant not specified [RCV000518177] Chr13:23324371 [GRCh38]
Chr13:23898510 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.-6T>C single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000393937]|Sarcoglycanopathy [RCV000301117]|not specified [RCV000438808] Chr13:23181070 [GRCh38]
Chr13:23755209 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
NM_000231.2(SGCG):c.479T>C (p.Val160Ala) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000271055]|Sarcoglycanopathy [RCV001094118]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000365766] Chr13:23279452 [GRCh38]
Chr13:23853591 [GRCh37]
Chr13:13q12.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.*185G>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000369399]|Sarcoglycanopathy [RCV000277123] Chr13:23324726 [GRCh38]
Chr13:23898865 [GRCh37]
Chr13:13q12.12
benign|uncertain significance
NM_000231.2(SGCG):c.-88G>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000295084]|Sarcoglycanopathy [RCV000336138] Chr13:23180988 [GRCh38]
Chr13:23755127 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_000231.2(SGCG):c.703C>T (p.Leu235Phe) single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000332374]|Sarcoglycanopathy [RCV000295781]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001247131] Chr13:23324368 [GRCh38]
Chr13:23898507 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.752del (p.Thr251fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000817669]|not provided [RCV000267545] Chr13:23324417 [GRCh38]
Chr13:23898556 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.2(SGCG):c.386-2A>G single nucleotide variant not provided [RCV000268438] Chr13:23279357 [GRCh38]
Chr13:23853496 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.196-6dup duplication not specified [RCV000270887] Chr13:23234593..23234594 [GRCh38]
Chr13:23808744 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.506-7T>G single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001084343]|not provided [RCV000725613]|not specified [RCV000270133] Chr13:23295408 [GRCh38]
Chr13:23869547 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.77T>C (p.Ile26Thr) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000822313]|not provided [RCV000338324] Chr13:23203771 [GRCh38]
Chr13:23777910 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.1-8C>T single nucleotide variant not provided [RCV000725351]|not specified [RCV000339138] Chr13:23203687 [GRCh38]
Chr13:23777826 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.326A>G (p.Gln109Arg) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000690702]|not provided [RCV000375519] Chr13:23250658 [GRCh38]
Chr13:23824797 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.507G>T (p.Gly169=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001087933]|not provided [RCV000725039]|not specified [RCV000375825] Chr13:23295416 [GRCh38]
Chr13:23869555 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.455C>T (p.Thr152Ile) single nucleotide variant not provided [RCV000376697] Chr13:23279428 [GRCh38]
Chr13:23853567 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.*53C>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000407197]|Sarcoglycanopathy [RCV000345323] Chr13:23324594 [GRCh38]
Chr13:23898733 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.517G>A (p.Ala173Thr) single nucleotide variant not provided [RCV000307676] Chr13:23295426 [GRCh38]
Chr13:23869565 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.452_458del (p.Leu150_Phe151insTer) deletion not provided [RCV000299868] Chr13:23279424..23279430 [GRCh38]
Chr13:23853563..23853569 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.599del (p.Ser200fs) deletion not provided [RCV000301397] Chr13:23320657 [GRCh38]
Chr13:23894796 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.411T>G (p.Asn137Lys) single nucleotide variant not provided [RCV000310130] Chr13:23279384 [GRCh38]
Chr13:23853523 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.803C>T (p.Pro268Leu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000703077]|not provided [RCV000381467] Chr13:23324468 [GRCh38]
Chr13:23898607 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.233T>C (p.Leu78Pro) single nucleotide variant not provided [RCV000383424] Chr13:23234648 [GRCh38]
Chr13:23808787 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.302C>T (p.Ser101Leu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000800189]|not provided [RCV000349082] Chr13:23250634 [GRCh38]
Chr13:23824773 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.267A>G (p.Pro89=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001081611]|not provided [RCV000724842]|not specified [RCV000316307] Chr13:23234682 [GRCh38]
Chr13:23808821 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.*136T>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000310450]|Sarcoglycanopathy [RCV000365130] Chr13:23324677 [GRCh38]
Chr13:23898816 [GRCh37]
Chr13:13q12.12
benign|uncertain significance
NM_000231.2(SGCG):c.8G>A (p.Arg3His) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001041629]|not provided [RCV000319790] Chr13:23203702 [GRCh38]
Chr13:23777841 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.190T>C (p.Ser64Pro) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001305128]|not provided [RCV000321092] Chr13:23203884 [GRCh38]
Chr13:23778023 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.196-7_196-6del deletion not specified [RCV000319948] Chr13:23234594..23234595 [GRCh38]
Chr13:23808743..23808744 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.142G>A (p.Val48Ile) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001246880]|not provided [RCV000390857] Chr13:23203836 [GRCh38]
Chr13:23777975 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.17A>G (p.Tyr6Cys) single nucleotide variant Sarcoglycanopathy [RCV001110405]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000690683]|not provided [RCV000391225] Chr13:23203711 [GRCh38]
Chr13:23777850 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.236G>A (p.Arg79His) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636844]|not provided [RCV000288188] Chr13:23234651 [GRCh38]
Chr13:23808790 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.564G>A (p.Pro188=) single nucleotide variant not provided [RCV000325089] Chr13:23295473 [GRCh38]
Chr13:23869612 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.385G>A (p.Gly129Ser) single nucleotide variant not provided [RCV000327552] Chr13:23250717 [GRCh38]
Chr13:23824856 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.181A>T (p.Met61Leu) single nucleotide variant not provided [RCV000396967] Chr13:23203875 [GRCh38]
Chr13:23778014 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.235C>T (p.Arg79Cys) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000548738]|not provided [RCV000513440] Chr13:23234650 [GRCh38]
Chr13:23808789 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.196-6del deletion not specified [RCV000363057] Chr13:23234594 [GRCh38]
Chr13:23808744 [GRCh37]
Chr13:13q12.12
benign|uncertain significance
NM_000231.2(SGCG):c.118G>C (p.Val40Leu) single nucleotide variant not provided [RCV000364834] Chr13:23203812 [GRCh38]
Chr13:23777951 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.275C>A (p.Ala92Asp) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636843]|not provided [RCV000364903] Chr13:23234690 [GRCh38]
Chr13:23808829 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.230G>C (p.Gly77Ala) single nucleotide variant not provided [RCV000713257] Chr13:23234645 [GRCh38]
Chr13:23808784 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.161C>A (p.Thr54Lys) single nucleotide variant not provided [RCV000330087] Chr13:23203855 [GRCh38]
Chr13:23777994 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.539A>T (p.Glu180Val) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001086671]|not provided [RCV000297423] Chr13:23295448 [GRCh38]
Chr13:23869587 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.161C>G (p.Thr54Arg) single nucleotide variant not provided [RCV000299317] Chr13:23203855 [GRCh38]
Chr13:23777994 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.559G>A (p.Asp187Asn) single nucleotide variant not provided [RCV000267627] Chr13:23295468 [GRCh38]
Chr13:23869607 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.-126C>A single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001277472] Chr13:23180950 [GRCh38]
Chr13:23755089 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_014363.6(SACS):c.*1046_*1050CTTTA[1] microsatellite Charlevoix-Saguenay spastic ataxia [RCV000400201]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000359875]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000305184] Chr13:23329081..23329085 [GRCh38]
Chr13:23903220..23903224 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.*254G>A single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000354144]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000372732]|Sarcoglycanopathy [RCV001111245]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000315861]|not specified [RCV000394244] Chr13:23324795 [GRCh38]
Chr13:23898934 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_014363.6(SACS):c.*471C>T single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000381497]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000326918] Chr13:23329665 [GRCh38]
Chr13:23903804 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.438C>A (p.Asp146Glu) single nucleotide variant not specified [RCV000517290] Chr13:23279411 [GRCh38]
Chr13:23853550 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.-125A>G single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000294340]|Sarcoglycanopathy [RCV000384087] Chr13:23180951 [GRCh38]
Chr13:23755090 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.-118G>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000401679]|Sarcoglycanopathy [RCV000349299] Chr13:23180958 [GRCh38]
Chr13:23755097 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.*478_*481dupAAGT microsatellite Limb-Girdle Muscular Dystrophy, Recessive [RCV000283993]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000376063] Chr13:23325014..23325015 [GRCh38]
Chr13:23899153..23899154 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.*295T>C single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000391543]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000319133]|Sarcoglycanopathy [RCV001111247]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000261794] Chr13:23324836 [GRCh38]
Chr13:23898975 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_014363.6(SACS):c.*677C>T single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000391991]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000265271]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000320434] Chr13:23329459 [GRCh38]
Chr13:23903598 [GRCh37]
Chr13:13q12.12
likely benign
NM_014363.6(SACS):c.*484T>C single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000315525]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000271293]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000365800] Chr13:23329652 [GRCh38]
Chr13:23903791 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.*136T>C single nucleotide variant Charlevoix-Saguenay spastic ataxia [RCV000299676]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000312413]|Sarcoglycanopathy [RCV001110485]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000273729] Chr13:23324677 [GRCh38]
Chr13:23898816 [GRCh37]
Chr13:13q12.12
benign|likely benign
NM_000231.2(SGCG):c.*571_*576del deletion Limb-Girdle Muscular Dystrophy, Recessive [RCV000341376]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000381715] Chr13:23325109..23325114 [GRCh38]
Chr13:23899248..23899253 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Cardiomyopathy [RCV000611072] Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.501A>T (p.Val167=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001086818]|not provided [RCV000592590] Chr13:23279474 [GRCh38]
Chr13:23853613 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.575T>G (p.Leu192Arg) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001347465]|not provided [RCV000592624] Chr13:23295484 [GRCh38]
Chr13:23869623 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.629A>G (p.His210Arg) single nucleotide variant not provided [RCV000592683] Chr13:23320687 [GRCh38]
Chr13:23894826 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.526G>C (p.Glu176Gln) single nucleotide variant not provided [RCV000596773] Chr13:23295435 [GRCh38]
Chr13:23869574 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.196-6T>A single nucleotide variant not provided [RCV000593076] Chr13:23234605 [GRCh38]
Chr13:23808744 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.792C>G (p.Ile264Met) single nucleotide variant not provided [RCV000593779] Chr13:23324457 [GRCh38]
Chr13:23898596 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.196-3C>T single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636847]|not provided [RCV000591281] Chr13:23234608 [GRCh38]
Chr13:23808747 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.352T>C (p.Ser118Pro) single nucleotide variant not provided [RCV000730562] Chr13:23250684 [GRCh38]
Chr13:23824823 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.615C>G (p.Ala205=) single nucleotide variant not provided [RCV000733255] Chr13:23320673 [GRCh38]
Chr13:23894812 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.250T>A (p.Ser84Thr) single nucleotide variant not provided [RCV000732280] Chr13:23234665 [GRCh38]
Chr13:23808804 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.505+15G>T single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001000993] Chr13:23279493 [GRCh38]
Chr13:23853632 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.230dup (p.Leu78fs) duplication not provided [RCV000733401] Chr13:23234643..23234644 [GRCh38]
Chr13:23808782..23808783 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.7C>T (p.Arg3Cys) single nucleotide variant not provided [RCV000734028] Chr13:23203701 [GRCh38]
Chr13:23777840 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.578+8T>C single nucleotide variant not provided [RCV000733715] Chr13:23295495 [GRCh38]
Chr13:23869634 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.34G>A (p.Gly12Ser) single nucleotide variant not provided [RCV000733723] Chr13:23203728 [GRCh38]
Chr13:23777867 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.10:g.(?_23667335)_(23985388_?)dup duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000815274] Chr13:23093196..23411249 [GRCh38]
Chr13:23667335..23985388 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 copy number loss See cases [RCV000449195] Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23629150-24446887)x1 copy number loss See cases [RCV000447249] Chr13:23629150..24446887 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23816341-23893534)x3 copy number gain See cases [RCV000447163] Chr13:23816341..23893534 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000231.2(SGCG):c.196-16T>C single nucleotide variant not specified [RCV000422674] Chr13:23234595 [GRCh38]
Chr13:23808734 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.579-2A>G single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000673462]|not provided [RCV000441409] Chr13:23320635 [GRCh38]
Chr13:23894774 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
GRCh37/hg19 13q12.12(chr13:23803922-23853233) copy number loss Abnormality of esophagus morphology [RCV000416846] Chr13:23803922..23853233 [GRCh37]
Chr13:13q12.12
likely benign
NC_000013.10:g.(?_23544669)_(24893183_?)del deletion Schizophrenia [RCV000416747] Chr13:23544669..24893183 [GRCh37]
Chr13:22442669..23791183 [NCBI36]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q12.12(chr13:23633501-24447228)x1 copy number loss See cases [RCV000448233] Chr13:23633501..24447228 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.579-21_579-20del microsatellite not provided [RCV000723502]|not specified [RCV000486738] Chr13:23320614..23320615 [GRCh38]
Chr13:23894753..23894754 [GRCh37]
Chr13:13q12.12
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1 copy number loss See cases [RCV000510304] Chr13:23533358..24958572 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 copy number loss See cases [RCV000510615] Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 copy number loss See cases [RCV000511657] Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13
likely pathogenic
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss See cases [RCV000511873] Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000231.2(SGCG):c.702+1G>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000532127] Chr13:23320761 [GRCh38]
Chr13:23894900 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.436G>A (p.Asp146Asn) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000541991]|not provided [RCV000730666] Chr13:23279409 [GRCh38]
Chr13:23853548 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.11:g.(?_23203675)_(23279498_?)del deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636850] Chr13:23203675..23279498 [GRCh38]
Chr13:23777814..23853637 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.346C>T (p.Arg116Cys) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636849] Chr13:23250678 [GRCh38]
Chr13:23824817 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.22A>G (p.Thr8Ala) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636848] Chr13:23203716 [GRCh38]
Chr13:23777855 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.796G>T (p.Val266Leu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636845] Chr13:23324461 [GRCh38]
Chr13:23898600 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.670A>G (p.Met224Val) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636842] Chr13:23320728 [GRCh38]
Chr13:23894867 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.10:g.(?_23667335)_(23985398_?)dup duplication Spastic paraplegia [RCV000537039] Chr13:23093196..23411259 [GRCh38]
Chr13:23667335..23985398 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.157C>T (p.Leu53Phe) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000559899]|not provided [RCV000593280] Chr13:23203851 [GRCh38]
Chr13:23777990 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.530A>G (p.His177Arg) single nucleotide variant not provided [RCV000595693] Chr13:23295439 [GRCh38]
Chr13:23869578 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.643G>A (p.Ala215Thr) single nucleotide variant not provided [RCV000594278] Chr13:23320701 [GRCh38]
Chr13:23894840 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.303A>C (p.Ser101=) single nucleotide variant not provided [RCV000594241] Chr13:23250635 [GRCh38]
Chr13:23824774 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.505+15G>A single nucleotide variant Sarcoglycanopathy [RCV001111150]|not specified [RCV000611026] Chr13:23279493 [GRCh38]
Chr13:23853632 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 copy number loss See cases [RCV000512192] Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.579-6T>C single nucleotide variant not specified [RCV000599939] Chr13:23320631 [GRCh38]
Chr13:23894770 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.414A>G (p.Gln138=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001272176]|not provided [RCV000726955]|not specified [RCV000594815] Chr13:23279387 [GRCh38]
Chr13:23853526 [GRCh37]
Chr13:13q12.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000231.2(SGCG):c.497G>A (p.Arg166Gln) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636846] Chr13:23279470 [GRCh38]
Chr13:23853609 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
NM_000231.2(SGCG):c.121_123CTT[1] (p.Leu44del) microsatellite Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000636841] Chr13:23203813..23203815 [GRCh38]
Chr13:23777952..23777954 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.186G>A (p.Trp62Ter) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000673395] Chr13:23203880 [GRCh38]
Chr13:23778019 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.298-2A>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000670718] Chr13:23250628 [GRCh38]
Chr13:23824767 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.702+1G>A single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000671119] Chr13:23320761 [GRCh38]
Chr13:23894900 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.714_719del (p.Asp238_Ala239del) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000671145] Chr13:23324376..23324381 [GRCh38]
Chr13:23898515..23898520 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.591dup (p.Thr198fs) duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000668598] Chr13:23320644..23320645 [GRCh38]
Chr13:23894783..23894784 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.723_724TG[2] (p.Cys243fs) microsatellite Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000673041] Chr13:23324388..23324389 [GRCh38]
Chr13:23898527..23898528 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.385+2T>A single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000671286] Chr13:23250719 [GRCh38]
Chr13:23824858 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.133del (p.Ile45fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000665539] Chr13:23203827 [GRCh38]
Chr13:23777966 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.794_795GT[3] (p.Cys267fs) microsatellite Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000667789]|not provided [RCV001200356] Chr13:23324458..23324459 [GRCh38]
Chr13:23898597..23898598 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.2(SGCG):c.768del (p.Ser257fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000671426] Chr13:23324433 [GRCh38]
Chr13:23898572 [GRCh37]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 copy number loss not provided [RCV000683547] Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 copy number loss not provided [RCV000683564] Chr13:20008480..25534121 [GRCh37]
Chr13:13q12.11-12.13
pathogenic
GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3 copy number gain not provided [RCV000683546] Chr13:23525351..24910183 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q12.12(chr13:23519916-24936994)x3 copy number gain not provided [RCV000683548] Chr13:23519916..24936994 [GRCh37]
Chr13:13q12.12
likely benign
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NM_000231.2(SGCG):c.172C>A (p.Leu58Ile) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000707681] Chr13:23203866 [GRCh38]
Chr13:23778005 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.10:g.(?_23667335)_(23869646_?)dup duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000708028] Chr13:23093196..23295507 [GRCh38]
Chr13:23667335..23869646 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.11:g.(?_23093196)_(23411259_?)del deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000707933] Chr13:23093196..23411259 [GRCh38]
Chr13:23667335..23985398 [GRCh37]
Chr13:13q12.12
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
NC_000013.11:g.(?_22968338)_(24323208_?)del deletion Schizophrenia [RCV000754142] Chr13:22968338..24323208 [GRCh38]
Chr13:13q12.12
likely pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q12.12(chr13:23546238-25021200)x3 copy number gain not provided [RCV000750668] Chr13:23546238..25021200 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23760371-23766935)x1 copy number loss not provided [RCV000750669] Chr13:23760371..23766935 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.196-10T>C single nucleotide variant not provided [RCV000938770] Chr13:23234601 [GRCh38]
Chr13:23808740 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.660G>A (p.Ala220=) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000875292] Chr13:23320718 [GRCh38]
Chr13:23894857 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.3(SGCG):c.*54C>T single nucleotide variant Sarcoglycanopathy [RCV001114523] Chr13:23324595 [GRCh38]
Chr13:23898734 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.1-3C>T single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001272915]|not provided [RCV000992969] Chr13:23203692 [GRCh38]
Chr13:23777831 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.196-9T>G single nucleotide variant not provided [RCV000944199] Chr13:23234602 [GRCh38]
Chr13:23808741 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.84T>C (p.Ile28=) single nucleotide variant not provided [RCV000976569] Chr13:23203778 [GRCh38]
Chr13:23777917 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.3(SGCG):c.703-1G>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001037350] Chr13:23324367 [GRCh38]
Chr13:23898506 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.247G>T (p.Glu83Ter) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000786075] Chr13:23234662 [GRCh38]
Chr13:23808801 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.702+326C>T single nucleotide variant not provided [RCV000827929] Chr13:23321086 [GRCh38]
Chr13:23895225 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.558C>A (p.Ala186=) single nucleotide variant not provided [RCV000977769] Chr13:23295467 [GRCh38]
Chr13:23869606 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.684T>C (p.Phe228=) single nucleotide variant not provided [RCV000944740] Chr13:23320742 [GRCh38]
Chr13:23894881 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.477G>A (p.Val159=) single nucleotide variant not provided [RCV000982627] Chr13:23279450 [GRCh38]
Chr13:23853589 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.3(SGCG):c.298-248del deletion not provided [RCV000831763] Chr13:23250376 [GRCh38]
Chr13:23824515 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.551T>G (p.Val184Gly) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000796927] Chr13:23295460 [GRCh38]
Chr13:23869599 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.625G>T (p.Val209Leu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000798310] Chr13:23320683 [GRCh38]
Chr13:23894822 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.703-53C>T single nucleotide variant not provided [RCV000829193] Chr13:23324315 [GRCh38]
Chr13:23898454 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2:c.579-22G>T single nucleotide variant not provided [RCV000829192] Chr13:23894754 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2:c.386-30A>G single nucleotide variant not provided [RCV000829705] Chr13:23853468 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.505+149T>C single nucleotide variant not provided [RCV000829706] Chr13:23279627 [GRCh38]
Chr13:23853766 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.196-197G>C single nucleotide variant not provided [RCV000830924] Chr13:23234414 [GRCh38]
Chr13:23808553 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.196-282A>T single nucleotide variant not provided [RCV000844569] Chr13:23234329 [GRCh38]
Chr13:23808468 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.196-281A>T single nucleotide variant not provided [RCV000844570] Chr13:23234330 [GRCh38]
Chr13:23808469 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.505+335T>C single nucleotide variant not provided [RCV000844572] Chr13:23279813 [GRCh38]
Chr13:23853952 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.578+281T>C single nucleotide variant not provided [RCV000844573] Chr13:23295768 [GRCh38]
Chr13:23869907 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.434A>G (p.Asn145Ser) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000815555] Chr13:23279407 [GRCh38]
Chr13:23853546 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.702+252G>T single nucleotide variant not provided [RCV000827924] Chr13:23321012 [GRCh38]
Chr13:23895151 [GRCh37]
Chr13:13q12.12
benign
GRCh37/hg19 13q12.12(chr13:23506404-24926597)x1 copy number loss not provided [RCV000846686] Chr13:23506404..24926597 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.297+63A>C single nucleotide variant not provided [RCV000830925] Chr13:23234775 [GRCh38]
Chr13:23808914 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.342dup (p.Ala115fs) duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000806806] Chr13:23250673..23250674 [GRCh38]
Chr13:23824812..23824813 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.197C>A (p.Ala66Glu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000798187] Chr13:23234612 [GRCh38]
Chr13:23808751 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.579-22del deletion not provided [RCV000829191] Chr13:23320615 [GRCh38]
Chr13:23894754 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.578+145G>C single nucleotide variant not provided [RCV000829708] Chr13:23295632 [GRCh38]
Chr13:23869771 [GRCh37]
Chr13:13q12.12
benign
GRCh37/hg19 13q12.12(chr13:23506404-24925728)x1 copy number loss not provided [RCV000846318] Chr13:23506404..24925728 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.117T>A (p.Phe39Leu) single nucleotide variant not provided [RCV001090240] Chr13:23203811 [GRCh38]
Chr13:23777950 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.*43G>A single nucleotide variant Sarcoglycanopathy [RCV001114522] Chr13:23324584 [GRCh38]
Chr13:23898723 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.11:g.(?_23093196)_(23203899_?)del deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000798820] Chr13:23093196..23203899 [GRCh38]
Chr13:23667335..23778038 [GRCh37]
Chr13:13q12.12
pathogenic
NC_000013.11:g.(?_23093196)_(23368497_?)del deletion Spastic paraplegia [RCV000798822] Chr13:23093196..23368497 [GRCh38]
Chr13:23667335..23942636 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.385+2T>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000811151] Chr13:23250719 [GRCh38]
Chr13:23824858 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_000231.2(SGCG):c.455C>A (p.Thr152Asn) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000792648] Chr13:23279428 [GRCh38]
Chr13:23853567 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_000231.2(SGCG):c.196-300C>G single nucleotide variant not provided [RCV000831001] Chr13:23234311 [GRCh38]
Chr13:23808450 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.196-125_196-124insTTTA insertion not provided [RCV000837789] Chr13:23234484..23234485 [GRCh38]
Chr13:23808623..23808624 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.241_297+1169del deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000822933] Chr13:23234652..23235877 [GRCh38]
Chr13:23808791..23810016 [GRCh37]
Chr13:13q12.12
pathogenic|likely pathogenic
NM_000231.2(SGCG):c.702+331C>T single nucleotide variant not provided [RCV000831897] Chr13:23321091 [GRCh38]
Chr13:23895230 [GRCh37]
Chr13:13q12.12
likely benign
NC_000013.11:g.(?_23093196)_(23411249_?)del deletion Spastic paraplegia [RCV000807921] Chr13:23093196..23411249 [GRCh38]
Chr13:23667335..23985388 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.2(SGCG):c.164T>G (p.Ile55Ser) single nucleotide variant Proximal muscle weakness [RCV000850324] Chr13:23203858 [GRCh38]
Chr13:23777997 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13
pathogenic
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001068656] Chr13:23203751 [GRCh38]
Chr13:23777890 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24909793)x1 copy number loss not provided [RCV000847939] Chr13:23506404..24909793 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24928440)x1 copy number loss not provided [RCV000846619] Chr13:23506404..24928440 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12(chr13:23482111-24896608)x1 copy number loss not provided [RCV001006551] Chr13:23482111..24896608 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.199G>A (p.Gly67Arg) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001226348] Chr13:23234614 [GRCh38]
Chr13:23808753 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs) indel Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001240066] Chr13:23324395..23324397 [GRCh38]
Chr13:23898534..23898536 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.672G>T (p.Met224Ile) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001209120] Chr13:23320730 [GRCh38]
Chr13:23894869 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.529C>T (p.His177Tyr) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001240946] Chr13:23295438 [GRCh38]
Chr13:23869577 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.344C>A (p.Ala115Glu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001229872] Chr13:23250676 [GRCh38]
Chr13:23824815 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.2(SGCG):c.333del (p.Thr112fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000855421] Chr13:23250665 [GRCh38]
Chr13:23824804 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.*145G>C single nucleotide variant Sarcoglycanopathy [RCV001110486] Chr13:23324686 [GRCh38]
Chr13:23898825 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 copy number loss not provided [RCV001006544] Chr13:19436286..24970361 [GRCh37]
Chr13:13q11-12.12
pathogenic
NM_000231.3(SGCG):c.*296G>A single nucleotide variant Sarcoglycanopathy [RCV001111248] Chr13:23324837 [GRCh38]
Chr13:23898976 [GRCh37]
Chr13:13q12.12
benign
NM_000231.3(SGCG):c.*505A>G single nucleotide variant Sarcoglycanopathy [RCV001111250] Chr13:23325046 [GRCh38]
Chr13:23899185 [GRCh37]
Chr13:13q12.12
benign
NM_000231.2(SGCG):c.371G>T (p.Gly124Val) single nucleotide variant Primary dilated cardiomyopathy [RCV000852689]|Sarcoglycanopathy [RCV001111146]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001239951] Chr13:23250703 [GRCh38]
Chr13:23824842 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
NM_000231.2(SGCG):c.506-6G>A single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000982272] Chr13:23295409 [GRCh38]
Chr13:23869548 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.2(SGCG):c.615C>A (p.Ala205=) single nucleotide variant Sarcoglycanopathy [RCV001113155]|Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV000876725] Chr13:23320673 [GRCh38]
Chr13:23894812 [GRCh37]
Chr13:13q12.12
likely benign|uncertain significance
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001203643] Chr13:23279458 [GRCh38]
Chr13:23853597 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.750G>A (p.Gly250=) single nucleotide variant Sarcoglycanopathy [RCV001113158] Chr13:23324415 [GRCh38]
Chr13:23898554 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.11:g.(?_23203685)_(23203899_?)del deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001033304] Chr13:23777824..23778038 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.361del (p.Glu121fs) deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001237760] Chr13:23250690 [GRCh38]
Chr13:23824829 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.117T>G (p.Phe39Leu) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001241601] Chr13:23203811 [GRCh38]
Chr13:23777950 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001066887] Chr13:23295442 [GRCh38]
Chr13:23869581 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001065557] Chr13:23279469 [GRCh38]
Chr13:23853608 [GRCh37]
Chr13:13q12.12
pathogenic
NC_000013.11:g.(?_23320627)_(23320770_?)del deletion Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001031025] Chr13:23894766..23894909 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.505+3A>G single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001067008] Chr13:23279481 [GRCh38]
Chr13:23853620 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.259T>C (p.Leu87=) single nucleotide variant Sarcoglycanopathy [RCV001110406] Chr13:23234674 [GRCh38]
Chr13:23808813 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.*167C>T single nucleotide variant Sarcoglycanopathy [RCV001110487] Chr13:23324708 [GRCh38]
Chr13:23898847 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.3(SGCG):c.392A>G (p.Lys131Arg) single nucleotide variant Sarcoglycanopathy [RCV001111147] Chr13:23279365 [GRCh38]
Chr13:23853504 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.473T>C (p.Val158Ala) single nucleotide variant Sarcoglycanopathy [RCV001111149] Chr13:23279446 [GRCh38]
Chr13:23853585 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.570A>G (p.Gln190=) single nucleotide variant Sarcoglycanopathy [RCV001111151] Chr13:23295479 [GRCh38]
Chr13:23869618 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.*291A>G single nucleotide variant Sarcoglycanopathy [RCV001111246] Chr13:23324832 [GRCh38]
Chr13:23898971 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.3(SGCG):c.*345A>T single nucleotide variant Sarcoglycanopathy [RCV001111249] Chr13:23324886 [GRCh38]
Chr13:23899025 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.*546T>C single nucleotide variant Sarcoglycanopathy [RCV001111251] Chr13:23325087 [GRCh38]
Chr13:23899226 [GRCh37]
Chr13:13q12.12
benign
GRCh37/hg19 13q12.12(chr13:23529865-24963501)x3 copy number gain not provided [RCV001006552] Chr13:23529865..24963501 [GRCh37]
Chr13:13q12.12
likely benign
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001061556] Chr13:23203861 [GRCh38]
Chr13:23778000 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.505+2T>C single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001004965] Chr13:23279480 [GRCh38]
Chr13:23853619 [GRCh37]
Chr13:13q12.12
likely pathogenic
NM_001378244.1(SGCG):c.54+20316C>T single nucleotide variant Sarcoglycanopathy [RCV001114438] Chr13:23180962 [GRCh38]
Chr13:23755101 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.535G>A (p.Val179Met) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001248060] Chr13:23295444 [GRCh38]
Chr13:23869583 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.619A>G (p.Arg207Gly) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001055808] Chr13:23320677 [GRCh38]
Chr13:23894816 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.722C>T (p.Thr241Ile) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001051160] Chr13:23324387 [GRCh38]
Chr13:23898526 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.716C>T (p.Ala239Val) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001245746] Chr13:23324381 [GRCh38]
Chr13:23898520 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001041822] Chr13:23320707 [GRCh38]
Chr13:23894846 [GRCh37]
Chr13:13q12.12
pathogenic
NM_000231.3(SGCG):c.784T>C (p.Tyr262His) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001248548] Chr13:23324449 [GRCh38]
Chr13:23898588 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.817T>A (p.Tyr273Asn) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001214381] Chr13:23324482 [GRCh38]
Chr13:23898621 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3
likely pathogenic
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe) indel Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001256194] Chr13:23320671..23320672 [GRCh38]
Chr13:23894810..23894811 [GRCh37]
Chr13:13q12.12
uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:22423865-25504992)x3 copy number gain not provided [RCV001270639] Chr13:22423865..25504992 [GRCh37]
Chr13:13q12.11-12.13
uncertain significance
NM_000231.3(SGCG):c.662T>C (p.Leu221Pro) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001325620] Chr13:23320720 [GRCh38]
Chr13:23894859 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.637G>T (p.Ala213Ser) single nucleotide variant not provided [RCV001289209] Chr13:23320695 [GRCh38]
Chr13:23894834 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.735C>T (p.Pro245=) single nucleotide variant not provided [RCV001289210] Chr13:23324400 [GRCh38]
Chr13:23898539 [GRCh37]
Chr13:13q12.12
likely benign
NC_000013.10:g.(?_23667335)_(23778038_?)dup duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001322172] Chr13:23667335..23778038 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.217G>A (p.Val73Ile) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001339335] Chr13:23234632 [GRCh38]
Chr13:23808771 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.607A>G (p.Met203Val) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001277473] Chr13:23320665 [GRCh38]
Chr13:23894804 [GRCh37]
Chr13:13q12.12
uncertain significance
NM_000231.3(SGCG):c.623G>T (p.Gly208Val) single nucleotide variant Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001315172] Chr13:23320681 [GRCh38]
Chr13:23894820 [GRCh37]
Chr13:13q12.12
uncertain significance
NC_000013.10:g.(?_23667335)_(23894909_?)dup duplication Severe autosomal recessive muscular dystrophy of childhood - North African type [RCV001338057] Chr13:23667335..23894909 [GRCh37]
Chr13:13q12.12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10809 AgrOrtholog
COSMIC SGCG COSMIC
Ensembl Genes ENSG00000102683 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000218867 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000218867 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000102683 GTEx
HGNC ID HGNC:10809 ENTREZGENE
Human Proteome Map SGCG Human Proteome Map
InterPro Sarcoglycan UniProtKB/Swiss-Prot
  Sarcoglycan_gamma/delta/zeta UniProtKB/Swiss-Prot
  SGCG UniProtKB/Swiss-Prot
KEGG Report hsa:6445 UniProtKB/Swiss-Prot
NCBI Gene 6445 ENTREZGENE
OMIM 253700 OMIM
  608896 OMIM
PANTHER PTHR12939 UniProtKB/Swiss-Prot
  PTHR12939:SF4 UniProtKB/Swiss-Prot
Pfam Sarcoglycan_1 UniProtKB/Swiss-Prot
PharmGKB PA35720 PharmGKB
UniProt Q13326 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q32M32 UniProtKB/Swiss-Prot
  Q5T9J6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 SGCG  sarcoglycan gamma  SGCG  sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)  Symbol and/or name change 5135510 APPROVED