TSPAN1 (tetraspanin 1) - Rat Genome Database

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Gene: TSPAN1 (tetraspanin 1) Homo sapiens
Analyze
Symbol: TSPAN1
Name: tetraspanin 1
RGD ID: 1354320
HGNC Page HGNC
Description: Involved in protein stabilization. Localizes to several cellular components, including nucleoplasm; perinuclear region of cytoplasm; and vesicle.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 9030418M05Rik; NET-1; NET1; RP11-322N21.1; tetraspan 1; tetraspanin-1; TM4C; TM4SF; TSPAN-1
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 Ensembl146,175,073 - 46,185,962 (+)EnsemblGRCh38hg38GRCh38
GRCh38146,175,087 - 46,196,489 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37146,640,759 - 46,651,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,418,799 - 46,424,217 (+)NCBINCBI36hg18NCBI36
Build 34146,358,231 - 46,363,650NCBI
Celera144,928,039 - 44,938,924 (+)NCBI
Cytogenetic Map1p34.1NCBI
HuRef144,755,698 - 44,766,611 (+)NCBIHuRef
CHM1_1146,757,853 - 46,768,753 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9714763   PMID:10719184   PMID:11739647   PMID:12477932   PMID:15489334   PMID:16341674   PMID:17207965   PMID:17913940   PMID:18822690   PMID:18851943   PMID:19017553   PMID:19056867  
PMID:19139842   PMID:19190083   PMID:19508227   PMID:20680643   PMID:20890423   PMID:21302622   PMID:21836059   PMID:21873635   PMID:21988832   PMID:22088470   PMID:22378020   PMID:23376485  
PMID:23533145   PMID:23754316   PMID:23938385   PMID:25301729   PMID:26054975   PMID:26370588   PMID:27556508   PMID:28849017   PMID:30226858   PMID:30291375   PMID:30514341   PMID:30720116  
PMID:30869194   PMID:32296183   PMID:33455017  


Genomics

Comparative Map Data
TSPAN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl146,175,073 - 46,185,962 (+)EnsemblGRCh38hg38GRCh38
GRCh38146,175,087 - 46,196,489 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37146,640,759 - 46,651,634 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,418,799 - 46,424,217 (+)NCBINCBI36hg18NCBI36
Build 34146,358,231 - 46,363,650NCBI
Celera144,928,039 - 44,938,924 (+)NCBI
Cytogenetic Map1p34.1NCBI
HuRef144,755,698 - 44,766,611 (+)NCBIHuRef
CHM1_1146,757,853 - 46,768,753 (+)NCBICHM1_1
Tspan1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394116,019,078 - 116,024,818 (-)NCBIGRCm39mm39
GRCm39 Ensembl4116,019,066 - 116,024,798 (-)Ensembl
GRCm384116,161,881 - 116,167,621 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4116,161,869 - 116,167,601 (-)EnsemblGRCm38mm10GRCm38
MGSCv374115,834,486 - 115,840,203 (-)NCBIGRCm37mm9NCBIm37
MGSCv364115,659,813 - 115,665,530 (-)NCBImm8
Celera4114,900,039 - 114,905,756 (-)NCBICelera
Cytogenetic Map4D1NCBI
Tspan1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25129,646,139 - 129,659,383 (-)NCBI
Rnor_6.0 Ensembl5135,019,778 - 135,025,084 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05135,019,206 - 135,032,412 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05138,803,950 - 138,816,295 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45136,442,094 - 136,447,120 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15136,447,320 - 136,452,346 (-)NCBI
Celera5128,175,301 - 128,180,327 (-)NCBICelera
Cytogenetic Map5q35NCBI
Tspan1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546412,090,038 - 12,094,827 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546412,089,589 - 12,095,000 (-)NCBIChiLan1.0ChiLan1.0
TSPAN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1146,835,952 - 46,846,828 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl146,835,952 - 46,846,828 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0145,479,917 - 45,492,115 (+)NCBIMhudiblu_PPA_v0panPan3
TSPAN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11514,189,271 - 14,201,679 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1514,189,658 - 14,200,245 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1514,311,180 - 14,323,575 (-)NCBI
ROS_Cfam_1.01514,341,630 - 14,354,033 (-)NCBI
UMICH_Zoey_3.11514,142,702 - 14,155,084 (-)NCBI
UNSW_CanFamBas_1.01514,211,184 - 14,223,571 (-)NCBI
UU_Cfam_GSD_1.01514,280,818 - 14,293,196 (-)NCBI
Tspan1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505861,346,745 - 61,401,991 (+)NCBI
SpeTri2.0NW_00493647427,221,691 - 27,227,226 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSPAN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6165,224,641 - 165,235,150 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16165,224,619 - 165,229,516 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26152,704,086 - 152,708,999 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TSPAN1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12086,599,933 - 86,613,244 (-)NCBI
ChlSab1.1 Ensembl2086,599,214 - 86,605,426 (-)Ensembl
Tspan1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249062,108,324 - 2,118,571 (+)NCBI

Position Markers
G15732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,642,862 - 46,643,092UniSTSGRCh37
Build 36146,415,449 - 46,415,679RGDNCBI36
Celera144,930,151 - 44,930,381RGD
Cytogenetic Map1p34.1UniSTS
HuRef144,757,810 - 44,758,044UniSTS
Marshfield Genetic Map175.66UniSTS
Marshfield Genetic Map175.66RGD
SHGC-74773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,651,435 - 46,651,595UniSTSGRCh37
Build 36146,424,022 - 46,424,182RGDNCBI36
Celera144,938,725 - 44,938,885RGD
Cytogenetic Map1p34.1UniSTS
HuRef144,766,412 - 44,766,572UniSTS
TNG Radiation Hybrid Map123802.0UniSTS
GeneMap99-GB4 RH Map1144.08UniSTS
NCBI RH Map1294.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2482
Count of miRNA genes:780
Interacting mature miRNAs:972
Transcripts:ENST00000372003, ENST00000464786, ENST00000469330, ENST00000470318, ENST00000472170, ENST00000475163, ENST00000482143, ENST00000482928, ENST00000498443
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 adipose tissue appendage entire extraembryonic component
High 28 6 11 22 7
Medium 913 7 1017 177 140 30 43 14 487 347 872 1248 159 8 22 1
Low 1432 1927 679 430 722 419 3838 1713 2053 59 461 322 12 1165 2518 1
Below cutoff 58 933 20 13 858 14 387 449 1162 2 94 27 31 248 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000372003   ⟹   ENSP00000361072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,175,087 - 46,185,962 (+)Ensembl
RefSeq Acc Id: ENST00000464786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,183,433 - 46,185,308 (+)Ensembl
RefSeq Acc Id: ENST00000469330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,175,117 - 46,184,666 (+)Ensembl
RefSeq Acc Id: ENST00000470318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,184,867 - 46,185,742 (+)Ensembl
RefSeq Acc Id: ENST00000472170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,183,892 - 46,185,002 (+)Ensembl
RefSeq Acc Id: ENST00000475163
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,175,266 - 46,185,572 (+)Ensembl
RefSeq Acc Id: ENST00000482143
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,183,433 - 46,184,882 (+)Ensembl
RefSeq Acc Id: ENST00000482928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,175,104 - 46,184,663 (+)Ensembl
RefSeq Acc Id: ENST00000498443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl146,175,073 - 46,185,298 (+)Ensembl
RefSeq Acc Id: NM_005727   ⟹   NP_005718
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,175,087 - 46,185,962 (+)NCBI
GRCh37146,640,749 - 46,651,634 (+)ENTREZGENE
Build 36146,418,799 - 46,424,217 (+)NCBI Archive
HuRef144,755,698 - 44,766,611 (+)ENTREZGENE
CHM1_1146,757,853 - 46,768,753 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011540460   ⟹   XP_011538762
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,175,091 - 46,196,489 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005718   ⟸   NM_005727
- UniProtKB: O60635 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538762   ⟸   XM_011540460
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000361072   ⟸   ENST00000372003

Promoters
RGD ID:6855388
Promoter ID:EPDNEW_H859
Type:initiation region
Name:TSPAN1_2
Description:tetraspanin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H860  EPDNEW_H862  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,174,831 - 46,174,891EPDNEW
RGD ID:6855390
Promoter ID:EPDNEW_H860
Type:initiation region
Name:TSPAN1_3
Description:tetraspanin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H859  EPDNEW_H862  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,175,087 - 46,175,147EPDNEW
RGD ID:6855394
Promoter ID:EPDNEW_H862
Type:initiation region
Name:TSPAN1_1
Description:tetraspanin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H859  EPDNEW_H860  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,180,532 - 46,180,592EPDNEW
RGD ID:6787080
Promoter ID:HG_KWN:2537
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_005727,   OTTHUMT00000020136,   OTTHUMT00000020137,   OTTHUMT00000020138,   OTTHUMT00000020139
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,412,871 - 46,413,371 (+)MPROMDB
RGD ID:6787085
Promoter ID:HG_KWN:2539
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000020140,   UC009VYD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,417,861 - 46,418,762 (+)MPROMDB
RGD ID:6787086
Promoter ID:HG_KWN:2540
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000020141,   OTTHUMT00000020142,   OTTHUMT00000020143
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,421,461 - 46,421,961 (+)MPROMDB
RGD ID:6787087
Promoter ID:HG_KWN:2541
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000020144
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,423,149 - 46,423,649 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) single nucleotide variant Retinitis pigmentosa 76 [RCV000240928] Chr1:46195879 [GRCh38]
Chr1:46661551 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.751+8T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000545938] Chr1:46194545 [GRCh38]
Chr1:46660217 [GRCh37]
Chr1:1p34.1
likely benign
NM_001243766.1(POMGNT1):c.386G>A (p.Arg129Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000554424]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001200051]|not provided [RCV000591176] Chr1:46196046 [GRCh38]
Chr1:46661718 [GRCh37]
Chr1:1p34.1
pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1924A>G (p.Ile642Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001070882]|not provided [RCV000516928] Chr1:46189329 [GRCh38]
Chr1:46655001 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1014C>T (p.Asp338=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000546722] Chr1:46193576 [GRCh38]
Chr1:46659248 [GRCh37]
Chr1:1p34.1
likely benign
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33
pathogenic
NM_017739.3(POMGNT1):c.355-3T>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000661910]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000661909] Chr1:46196080 [GRCh38]
Chr1:46661752 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.703G>A (p.Gly235Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001332180] Chr1:46194601 [GRCh38]
Chr1:46660273 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3 copy number gain See cases [RCV000137659] Chr1:45488251..46220805 [GRCh38]
Chr1:45953923..46686477 [GRCh37]
Chr1:45726510..46459064 [NCBI36]
Chr1:1p34.1
uncertain significance
GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3 copy number gain See cases [RCV000141255] Chr1:45469848..46220805 [GRCh38]
Chr1:45935520..46686477 [GRCh37]
Chr1:45708107..46459064 [NCBI36]
Chr1:1p34.1
likely benign|uncertain significance
GRCh38/hg38 1p34.1(chr1:45569797-46183208)x3 copy number gain See cases [RCV000141696] Chr1:45569797..46183208 [GRCh38]
Chr1:46035469..46648880 [GRCh37]
Chr1:45808056..46421467 [NCBI36]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1413+1G>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004193] Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1413+1G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004194] Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1649G>A (p.Ser550Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004195]|Muscle eye brain disease [RCV000169201] Chr1:46190473 [GRCh38]
Chr1:46656145 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1478C>G (p.Pro493Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004197] Chr1:46192159 [GRCh38]
Chr1:46657831 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004199]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984301]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984302]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001219572]|Muscle eye brain disease [RCV000984210]|Retinitis pigmentosa 76 [RCV000984303]|not provided [RCV000150001] Chr1:46192397 [GRCh38]
Chr1:46658069 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1832del (p.Leu611fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004202] Chr1:46189521 [GRCh38]
Chr1:46655193 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1425G>A (p.Trp475Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004203] Chr1:46192212 [GRCh38]
Chr1:46657884 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1814G>C (p.Arg605Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004205]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000824425]|Muscle eye brain disease [RCV000671290]|not provided [RCV001268426] Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.582G>A (p.Arg194=) single nucleotide variant not provided [RCV000081804] Chr1:46194914 [GRCh38]
Chr1:46660586 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343385]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000304915]|Muscle eye brain disease [RCV001275750]|not provided [RCV000576556]|not specified [RCV000081805] Chr1:46194623 [GRCh38]
Chr1:46660295 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000260800]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000318279]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001084434]|Muscle eye brain disease [RCV000679858]|not provided [RCV000710194]|not specified [RCV000242900] Chr1:46192423 [GRCh38]
Chr1:46658095 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1540-16C>T single nucleotide variant not specified [RCV000149999] Chr1:46190800 [GRCh38]
Chr1:46656472 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.839G>A (p.Ser280Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083649]|Muscle eye brain disease [RCV000763935]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333960]|not provided [RCV000725700]|not specified [RCV000150000] Chr1:46194314 [GRCh38]
Chr1:46659986 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1502T>C (p.Phe501Ser) single nucleotide variant Congenital muscular dystrophy [RCV000150002] Chr1:46192135 [GRCh38]
Chr1:46657807 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1867= (p.Val623=) single nucleotide variant Muscle eye brain disease [RCV000986313]|not specified [RCV000153758] Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1831C>T (p.Leu611=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083116]|not provided [RCV000153759] Chr1:46189522 [GRCh38]
Chr1:46655194 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1490G>A (p.Arg497Gln) single nucleotide variant Inborn genetic diseases [RCV000622475]|not provided [RCV000153761] Chr1:46192147 [GRCh38]
Chr1:46657819 [GRCh37]
Chr1:1p34.1
likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1462C>G (p.Arg488Gly) single nucleotide variant not provided [RCV000153762] Chr1:46192175 [GRCh38]
Chr1:46657847 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097781]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000004204]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001082774]|Muscle eye brain disease [RCV000671438]|not provided [RCV000710195]|not specified [RCV000081801] Chr1:46189973 [GRCh38]
Chr1:46655645 [GRCh37]
Chr1:1p34.1
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798530]|Muscle eye brain disease [RCV000411094]|Muscle eye brain disease [RCV000763346]|not provided [RCV001091843] Chr1:46192168 [GRCh38]
Chr1:46657840 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001045717]|Muscle eye brain disease [RCV000049988]|not specified [RCV000250383] Chr1:46194359 [GRCh38]
Chr1:46660031 [GRCh37]
Chr1:1p34.1
likely pathogenic|likely benign|uncertain significance
NM_017739.3(POMGNT1):c.932G>A (p.Arg311Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004200]|Muscle eye brain disease [RCV000049989] Chr1:46193873 [GRCh38]
Chr1:46659545 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1274G>C (p.Trp425Ser) single nucleotide variant Muscle eye brain disease [RCV000049990] Chr1:46192528 [GRCh38]
Chr1:46658200 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1285-2A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000375211]|Muscle eye brain disease [RCV000049991]|POMGNT1-Related Disorders [RCV000292476]|Retinitis pigmentosa 76 [RCV000983991] Chr1:46192438 [GRCh38]
Chr1:46658110 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1319T>G (p.Leu440Arg) single nucleotide variant Muscle eye brain disease [RCV000049992] Chr1:46192402 [GRCh38]
Chr1:46658074 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1342G>C (p.Gly448Arg) single nucleotide variant Muscle eye brain disease [RCV000049993] Chr1:46192379 [GRCh38]
Chr1:46658051 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001290129.1(POMGNT1):c.1274_1278CTGGG[2] (p.Trp429fs) microsatellite Muscle eye brain disease [RCV000049994]|not provided [RCV000782031] Chr1:46192367..46192371 [GRCh38]
Chr1:46658039..46658043 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_017739.3(POMGNT1):c.1539+1G>A single nucleotide variant Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [RCV000501155]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV001030748]|Limb-girdle muscular dystrophy, autosomal recessive [RCV001269143]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648199]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001196668]|Muscle eye brain disease [RCV000049995]|Muscle eye brain disease [RCV000763345]|POMGNT1-Related Disorders [RCV000323217]|Retinitis pigmentosa 76 [RCV000983990]|not provided [RCV000153760] Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1539+1G>T single nucleotide variant Muscle eye brain disease [RCV000049996] Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1540-2A>G single nucleotide variant Muscle eye brain disease [RCV000049997] Chr1:46190786 [GRCh38]
Chr1:46656458 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1719del (p.His573fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004196]|Muscle eye brain disease [RCV000049998] Chr1:46189920 [GRCh38]
Chr1:46655592 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1738C>T (p.Arg580Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000818740]|Muscle eye brain disease [RCV000049999] Chr1:46189901 [GRCh38]
Chr1:46655573 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1769G>A (p.Trp590Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000820354]|Muscle eye brain disease [RCV000050000] Chr1:46189870 [GRCh38]
Chr1:46655542 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1785+2T>G single nucleotide variant Muscle eye brain disease [RCV000050001] Chr1:46189852 [GRCh38]
Chr1:46655524 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.1814G>A single nucleotide variant Muscle eye brain disease [RCV000050002]|not provided [RCV001269853] Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1864del (p.Leu622fs) deletion Muscle eye brain disease [RCV000050003] Chr1:46189489 [GRCh38]
Chr1:46655161 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001243766.1(POMGNT1):c.1869+7del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 [RCV000004198]|Muscle eye brain disease [RCV000050004] Chr1:46189477 [GRCh38]
Chr1:46655149 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1895+1G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001043665]|Muscle eye brain disease [RCV000050005]|Retinitis pigmentosa 76 [RCV000240866] Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1895+1G>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000366136]|Inborn genetic diseases [RCV001266790]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394027]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000704718]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001005010]|Muscle eye brain disease [RCV000050006]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333959]|POMGNT1-Related Disorders [RCV000778243]|Retinitis pigmentosa 76 [RCV000983992]|not provided [RCV000490077] Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.1895+5_1895+8del microsatellite Muscle eye brain disease [RCV000050007] Chr1:46189450..46189453 [GRCh38]
Chr1:46655122..46655125 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1896-1G>C single nucleotide variant Muscle eye brain disease [RCV000050008] Chr1:46189358 [GRCh38]
Chr1:46655030 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1928del (p.Phe643fs) deletion Muscle eye brain disease [RCV000050009] Chr1:46189325 [GRCh38]
Chr1:46654997 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.447del (p.Phe149fs) deletion Muscle eye brain disease [RCV000050012] Chr1:46195898 [GRCh38]
Chr1:46661570 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.526A>C (p.Thr176Pro) single nucleotide variant Muscle eye brain disease [RCV000050013] Chr1:46195819 [GRCh38]
Chr1:46661491 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.593del (p.Ser198fs) deletion Muscle eye brain disease [RCV000050014] Chr1:46194903 [GRCh38]
Chr1:46660575 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.594C>G (p.Ser198Arg) single nucleotide variant Muscle eye brain disease [RCV000050015] Chr1:46194902 [GRCh38]
Chr1:46660574 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.630G>T (p.Trp210Cys) single nucleotide variant Muscle eye brain disease [RCV000050016] Chr1:46194866 [GRCh38]
Chr1:46660538 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.643C>T (p.Arg215Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000408610]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984294]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001062800]|Muscle eye brain disease [RCV000050017]|Retinitis pigmentosa 76 [RCV000984295]|not provided [RCV000578838] Chr1:46194853 [GRCh38]
Chr1:46660525 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.652+1G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000004206]|Muscle eye brain disease [RCV000050018] Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.667G>A (p.Glu223Lys) single nucleotide variant Muscle eye brain disease [RCV000050019] Chr1:46194637 [GRCh38]
Chr1:46660309 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.806G>A (p.Cys269Tyr) single nucleotide variant Muscle eye brain disease [RCV000050020] Chr1:46194347 [GRCh38]
Chr1:46660019 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+5G>A single nucleotide variant Muscle eye brain disease [RCV000050021] Chr1:46194269 [GRCh38]
Chr1:46659941 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+5G>T single nucleotide variant Muscle eye brain disease [RCV000050022] Chr1:46194269 [GRCh38]
Chr1:46659941 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.931C>T (p.Arg311Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984300]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984204]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001039421]|Muscle eye brain disease [RCV000050023]|Retinitis pigmentosa 76 [RCV000984205]|not provided [RCV000081807] Chr1:46193874 [GRCh38]
Chr1:46659546 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.982dup (p.Val328fs) duplication Muscle eye brain disease [RCV000050024] Chr1:46193607..46193608 [GRCh38]
Chr1:46659279..46659280 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101551]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001083592]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101550]|Muscle eye brain disease [RCV001275233]|not provided [RCV000712840]|not specified [RCV000118028] Chr1:46192545 [GRCh38]
Chr1:46658217 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_017739.3(POMGNT1):c.636C>T (p.Phe212=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984297]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000695969]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984298]|Muscle eye brain disease [RCV000984296]|Retinitis pigmentosa 76 [RCV000984299]|not provided [RCV000255207] Chr1:46194860 [GRCh38]
Chr1:46660532 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1011dup (p.Asp338Ter) duplication Muscle eye brain disease [RCV000169509] Chr1:46193578..46193579 [GRCh38]
Chr1:46659250..46659251 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1142A>G (p.Asn381Ser) single nucleotide variant not specified [RCV000193707] Chr1:46193184 [GRCh38]
Chr1:46658856 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1285-6C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000814493]|not specified [RCV000194367] Chr1:46192442 [GRCh38]
Chr1:46658114 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.421-7C>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000356295]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000263792]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001081913]|Muscle eye brain disease [RCV001277259]|not provided [RCV000724803]|not specified [RCV000179495] Chr1:46195931 [GRCh38]
Chr1:46661603 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.549C>T (p.Phe183=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088969]|Muscle eye brain disease [RCV001275754]|not provided [RCV000724831]|not specified [RCV000179953] Chr1:46194947 [GRCh38]
Chr1:46660619 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1413+1G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV000192386] Chr1:46192307 [GRCh38]
Chr1:46657979 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1783A>G (p.Lys595Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001061817]|not specified [RCV000193782] Chr1:46189856 [GRCh38]
Chr1:46655528 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000343795]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000295933]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001081570]|Muscle eye brain disease [RCV001277253]|not provided [RCV000725556]|not specified [RCV000385748] Chr1:46193630 [GRCh38]
Chr1:46659302 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1540-6C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000358125]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000303249]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000877564] Chr1:46190790 [GRCh38]
Chr1:46656462 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000298962]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000395975]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079550]|not provided [RCV000386165] Chr1:46195859 [GRCh38]
Chr1:46661531 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000289829]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000401912]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001308582] Chr1:46193631 [GRCh38]
Chr1:46659303 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000268124]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000354770]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001084521]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333958]|not provided [RCV000548277]|not specified [RCV000267239] Chr1:46192127 [GRCh38]
Chr1:46657799 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1895C>G (p.Ser632Ter) single nucleotide variant not provided [RCV000384080] Chr1:46189458 [GRCh38]
Chr1:46655130 [GRCh37]
Chr1:1p34.1
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000347143]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000406624] Chr1:46194340 [GRCh38]
Chr1:46660012 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000306770]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000394019]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000822620]|Muscle eye brain disease [RCV001275227]|not provided [RCV000307681] Chr1:46189326 [GRCh38]
Chr1:46654998 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1867G>A (p.Val623Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001080552]|not provided [RCV000576431] Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1895+22_1895+23insCCTACTCGTGAGTGCCCTGTTT insertion Muscle eye brain disease [RCV000669779] Chr1:46189435..46189436 [GRCh38]
Chr1:46655107..46655108 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1513G>A (p.Gly505Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001247989]|Muscle eye brain disease [RCV000668943] Chr1:46192124 [GRCh38]
Chr1:46657796 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) single nucleotide variant Retinitis pigmentosa 76 [RCV000240894] Chr1:46192132 [GRCh38]
Chr1:46657804 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.355-27C>T single nucleotide variant not specified [RCV000250875] Chr1:46196104 [GRCh38]
Chr1:46661776 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1785+46C>T single nucleotide variant not specified [RCV000246405] Chr1:46189808 [GRCh38]
Chr1:46655480 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.534+40C>A single nucleotide variant not specified [RCV000242026] Chr1:46195771 [GRCh38]
Chr1:46661443 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1785+31C>A single nucleotide variant not specified [RCV000254414] Chr1:46189823 [GRCh38]
Chr1:46655495 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.880-39G>C single nucleotide variant not specified [RCV000242341] Chr1:46193964 [GRCh38]
Chr1:46659636 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1027-44A>G single nucleotide variant not provided [RCV000830213]|not specified [RCV000252026] Chr1:46193432 [GRCh38]
Chr1:46659104 [GRCh37]
Chr1:1p34.1
benign
NM_001243766.1(POMGNT1):c.1869+56A>G single nucleotide variant not specified [RCV000242379] Chr1:46189428 [GRCh38]
Chr1:46655100 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1111-23C>T single nucleotide variant not specified [RCV000243209] Chr1:46193238 [GRCh38]
Chr1:46658910 [GRCh37]
Chr1:1p34.1
benign
NM_001290130.1(POMGNT1):c.-71T>G single nucleotide variant Retinitis pigmentosa 76 [RCV000240931] Chr1:46196073 [GRCh38]
Chr1:46661745 [GRCh37]
Chr1:46434332 [NCBI36]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001333961]|Retinitis pigmentosa 76 [RCV000240954] Chr1:46194293 [GRCh38]
Chr1:46659965 [GRCh37]
Chr1:1p34.1
pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.*451C>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000350895]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000296026] Chr1:46188819 [GRCh38]
Chr1:46654491 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.1077T>C (p.Thr359=) single nucleotide variant not provided [RCV000270489] Chr1:46193338 [GRCh38]
Chr1:46659010 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001290130.1(POMGNT1):c.-34T>C single nucleotide variant not provided [RCV000303433] Chr1:46196036 [GRCh38]
Chr1:46661708 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1050G>T (p.Leu350=) single nucleotide variant not provided [RCV000337960] Chr1:46193365 [GRCh38]
Chr1:46659037 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.503C>T (p.Ala168Val) single nucleotide variant not provided [RCV000271426] Chr1:46195842 [GRCh38]
Chr1:46661514 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.758A>T (p.Glu253Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001348185]|not provided [RCV000271137] Chr1:46194395 [GRCh38]
Chr1:46660067 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1111-6T>C single nucleotide variant not provided [RCV000306178] Chr1:46193221 [GRCh38]
Chr1:46658893 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.461C>T (p.Pro154Leu) single nucleotide variant not provided [RCV000375207] Chr1:46195884 [GRCh38]
Chr1:46661556 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1979C>T (p.Thr660Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648196]|not provided [RCV000376153] Chr1:46189274 [GRCh38]
Chr1:46654946 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1536T>C (p.Phe512=) single nucleotide variant not provided [RCV000378371] Chr1:46192101 [GRCh38]
Chr1:46657773 [GRCh37]
Chr1:1p34.1
conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1457G>A (p.Arg486Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648194]|not provided [RCV000312122] Chr1:46192180 [GRCh38]
Chr1:46657852 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1284+9G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001079134]|not provided [RCV000726491]|not specified [RCV000346335] Chr1:46192509 [GRCh38]
Chr1:46658181 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.561C>G (p.Asp187Glu) single nucleotide variant not provided [RCV000281001] Chr1:46194935 [GRCh38]
Chr1:46660607 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.664G>A (p.Gly222Arg) single nucleotide variant not provided [RCV000281302] Chr1:46194640 [GRCh38]
Chr1:46660312 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.958C>T (p.Arg320Cys) single nucleotide variant not provided [RCV000315823] Chr1:46193632 [GRCh38]
Chr1:46659304 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1379A>C (p.Glu460Ala) single nucleotide variant not provided [RCV000319103] Chr1:46192342 [GRCh38]
Chr1:46658014 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1457G>T (p.Arg486Leu) single nucleotide variant not provided [RCV000286944] Chr1:46192180 [GRCh38]
Chr1:46657852 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.652+6G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001242504]|not provided [RCV000726485]|not specified [RCV000287773] Chr1:46194838 [GRCh38]
Chr1:46660510 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.452C>T (p.Thr151Met) single nucleotide variant not provided [RCV000354413] Chr1:46195893 [GRCh38]
Chr1:46661565 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1010T>C (p.Ile337Thr) single nucleotide variant Muscle eye brain disease [RCV000763934]|not provided [RCV000324220] Chr1:46193580 [GRCh38]
Chr1:46659252 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.444G>A (p.Val148=) single nucleotide variant not provided [RCV000325355] Chr1:46195901 [GRCh38]
Chr1:46661573 [GRCh37]
Chr1:1p34.1
conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.652+8C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001214468]|not provided [RCV000325705] Chr1:46194836 [GRCh38]
Chr1:46660508 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.355-9A>G single nucleotide variant not provided [RCV000395745] Chr1:46196086 [GRCh38]
Chr1:46661758 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1139T>C (p.Phe380Ser) single nucleotide variant not provided [RCV000396441] Chr1:46193187 [GRCh38]
Chr1:46658859 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1539C>T (p.His513=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000701199]|Muscle eye brain disease [RCV001275232]|not provided [RCV000291524] Chr1:46192098 [GRCh38]
Chr1:46657770 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1923A>C (p.Pro641=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001085021]|not provided [RCV000362367] Chr1:46189330 [GRCh38]
Chr1:46655002 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1813C>T (p.Arg605Cys) single nucleotide variant not provided [RCV000397961] Chr1:46189540 [GRCh38]
Chr1:46655212 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1157C>T (p.Ala386Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001312386]|not provided [RCV000295360] Chr1:46192954 [GRCh38]
Chr1:46658626 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001290130.1(POMGNT1):c.-12A>G single nucleotide variant not provided [RCV000294699] Chr1:46196014 [GRCh38]
Chr1:46661686 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1476C>A (p.Ile492=) single nucleotide variant not provided [RCV000295348] Chr1:46192161 [GRCh38]
Chr1:46657833 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1825C>T (p.Arg609Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000812443]|not provided [RCV000297578] Chr1:46189528 [GRCh38]
Chr1:46655200 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.788G>A (p.Arg263His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000816918]|not provided [RCV000331122] Chr1:46194365 [GRCh38]
Chr1:46660037 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1911C>T (p.Pro637=) single nucleotide variant not provided [RCV000368977] Chr1:46189342 [GRCh38]
Chr1:46655014 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.706G>C (p.Asp236His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000547254]|not provided [RCV000369380] Chr1:46194598 [GRCh38]
Chr1:46660270 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1456C>G (p.Arg486Gly) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001213923]|Muscle eye brain disease [RCV000763933]|not provided [RCV000726595]|not specified [RCV000404503] Chr1:46192181 [GRCh38]
Chr1:46657853 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1645C>T (p.Leu549Phe) single nucleotide variant not provided [RCV000302178] Chr1:46190477 [GRCh38]
Chr1:46656149 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1933G>C (p.Glu645Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001247522]|not provided [RCV000336166] Chr1:46189320 [GRCh38]
Chr1:46654992 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1454G>A (p.Arg485His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000559267]|Muscle eye brain disease [RCV001277250]|not provided [RCV000407481] Chr1:46192183 [GRCh38]
Chr1:46657855 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1212-3_1212-2del deletion not provided [RCV000487672] Chr1:46192592..46192593 [GRCh38]
Chr1:46658264..46658265 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.*2A>T single nucleotide variant Muscle eye brain disease [RCV001277590] Chr1:46189268 [GRCh38]
Chr1:46654940 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.797G>A (p.Arg266Gln) single nucleotide variant not provided [RCV000595313] Chr1:46194356 [GRCh38]
Chr1:46660028 [GRCh37]
Chr1:1p34.1
uncertain significance
NC_000001.10:g.(?_46654371)_(46663513_?)dup duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000531409] Chr1:46188699..46197841 [GRCh38]
Chr1:46654371..46663513 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000331000]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000387886] Chr1:46193583 [GRCh38]
Chr1:46659255 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1855A>T (p.Asn619Tyr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001045068]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001199124]|not provided [RCV000727414] Chr1:46189498 [GRCh38]
Chr1:46655170 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1264A>C (p.Ile422Leu) single nucleotide variant not provided [RCV000597291] Chr1:46192538 [GRCh38]
Chr1:46658210 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.888C>A (p.Asp296Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001312267]|not provided [RCV000591678] Chr1:46193917 [GRCh38]
Chr1:46659589 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1738C>A (p.Arg580=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097777]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097778]|not provided [RCV000592161] Chr1:46189901 [GRCh38]
Chr1:46655573 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1464A>G (p.Arg488=) single nucleotide variant not provided [RCV000592225] Chr1:46192173 [GRCh38]
Chr1:46657845 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-6C>T single nucleotide variant Muscle eye brain disease [RCV001275229]|not provided [RCV000596002] Chr1:46189573 [GRCh38]
Chr1:46655245 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1082T>C (p.Ile361Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001236085]|not provided [RCV000592582] Chr1:46193333 [GRCh38]
Chr1:46659005 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1596T>C (p.Asn532=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088509]|not provided [RCV000592757]|not specified [RCV001288362] Chr1:46190728 [GRCh38]
Chr1:46656400 [GRCh37]
Chr1:1p34.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1195G>A (p.Ala399Thr) single nucleotide variant not provided [RCV000596846] Chr1:46192916 [GRCh38]
Chr1:46658588 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.453G>A (p.Thr151=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001088027]|not provided [RCV000731258]|not specified [RCV000604330] Chr1:46195892 [GRCh38]
Chr1:46661564 [GRCh37]
Chr1:1p34.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.880-4A>C single nucleotide variant not provided [RCV000591029] Chr1:46193929 [GRCh38]
Chr1:46659601 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.358C>G (p.Leu120Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001296019]|not provided [RCV000593833] Chr1:46196074 [GRCh38]
Chr1:46661746 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1015G>T (p.Gly339Cys) single nucleotide variant not provided [RCV000592036] Chr1:46193575 [GRCh38]
Chr1:46659247 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.478del (p.Met160fs) deletion Muscle eye brain disease [RCV000409087] Chr1:46195867 [GRCh38]
Chr1:46661539 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1695_1698del (p.Phe566fs) deletion Muscle eye brain disease [RCV000409168] Chr1:46189941..46189944 [GRCh38]
Chr1:46655613..46655616 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1786-2A>G single nucleotide variant Muscle eye brain disease [RCV000409263] Chr1:46189569 [GRCh38]
Chr1:46655241 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1110+9T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000556859] Chr1:46193296 [GRCh38]
Chr1:46658968 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.987del (p.Pro330fs) deletion Muscle eye brain disease [RCV000409861] Chr1:46193603 [GRCh38]
Chr1:46659275 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1287G>C (p.Gly429=) single nucleotide variant not provided [RCV000733856] Chr1:46192434 [GRCh38]
Chr1:46658106 [GRCh37]
Chr1:1p34.1
conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1113del (p.Tyr372fs) deletion Muscle eye brain disease [RCV000410334] Chr1:46193213 [GRCh38]
Chr1:46658885 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1562del (p.Lys521fs) deletion Muscle eye brain disease [RCV000410384] Chr1:46190762 [GRCh38]
Chr1:46656434 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.427G>A (p.Val143Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001038189]|not provided [RCV000732264] Chr1:46195918 [GRCh38]
Chr1:46661590 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1220G>A (p.Ser407Asn) single nucleotide variant not provided [RCV000594200] Chr1:46192582 [GRCh38]
Chr1:46658254 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000530635]|not provided [RCV000732506] Chr1:46192944 [GRCh38]
Chr1:46658616 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.875del (p.Asp292fs) deletion Muscle eye brain disease [RCV000410756] Chr1:46194278 [GRCh38]
Chr1:46659950 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001243766.1(POMGNT1):c.1692_1693CT[1] (p.Ser565fs) microsatellite Muscle eye brain disease [RCV000410825] Chr1:46189944..46189945 [GRCh38]
Chr1:46655616..46655617 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1151C>G (p.Pro384Arg) single nucleotide variant not provided [RCV000734635] Chr1:46193175 [GRCh38]
Chr1:46658847 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.880-2A>G single nucleotide variant Muscle eye brain disease [RCV000411269] Chr1:46193927 [GRCh38]
Chr1:46659599 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1153-8C>T single nucleotide variant not provided [RCV000733289] Chr1:46192966 [GRCh38]
Chr1:46658638 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-9C>T single nucleotide variant not provided [RCV000733317] Chr1:46189576 [GRCh38]
Chr1:46655248 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1558C>T (p.His520Tyr) single nucleotide variant not provided [RCV000734075] Chr1:46190766 [GRCh38]
Chr1:46656438 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1650-4G>A single nucleotide variant not provided [RCV000734084] Chr1:46189993 [GRCh38]
Chr1:46655665 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1284+2_1284+19del deletion Muscle eye brain disease [RCV000411800] Chr1:46192499..46192516 [GRCh38]
Chr1:46658171..46658188 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1741_1745del (p.Met581fs) deletion Muscle eye brain disease [RCV000411968] Chr1:46189894..46189898 [GRCh38]
Chr1:46655566..46655570 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.751+10G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000535748] Chr1:46194543 [GRCh38]
Chr1:46660215 [GRCh37]
Chr1:1p34.1
likely benign
NM_001243766.1(POMGNT1):c.1438C>T (p.Arg480Trp) single nucleotide variant Retinitis pigmentosa 76 [RCV001262482]|not provided [RCV000731690] Chr1:46192199 [GRCh38]
Chr1:46657871 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.751+4G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001239878]|not provided [RCV000731722] Chr1:46194549 [GRCh38]
Chr1:46660221 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.420+5G>T single nucleotide variant not provided [RCV000733716] Chr1:46196007 [GRCh38]
Chr1:46661679 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1538_1539+2del deletion Muscle eye brain disease [RCV000412386] Chr1:46192096..46192099 [GRCh38]
Chr1:46657768..46657771 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+2T>C single nucleotide variant Muscle eye brain disease [RCV000412480] Chr1:46194272 [GRCh38]
Chr1:46659944 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096118]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000873590]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096117]|not specified [RCV000413042] Chr1:46194606 [GRCh38]
Chr1:46660278 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.1406C>T (p.Pro469Leu) single nucleotide variant not provided [RCV000730929] Chr1:46192315 [GRCh38]
Chr1:46657987 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1027-2_1027-1del deletion Muscle eye brain disease [RCV000408976] Chr1:46193389..46193390 [GRCh38]
Chr1:46659061..46659062 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1173T>C (p.Val391=) single nucleotide variant not specified [RCV000417435] Chr1:46192938 [GRCh38]
Chr1:46658610 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1560C>T (p.His520=) single nucleotide variant not specified [RCV000420628] Chr1:46190764 [GRCh38]
Chr1:46656436 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1569C>T (p.Asn523=) single nucleotide variant not specified [RCV000438302] Chr1:46190755 [GRCh38]
Chr1:46656427 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.534+15C>T single nucleotide variant not specified [RCV000428769] Chr1:46195796 [GRCh38]
Chr1:46661468 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.565G>T (p.Ala189Ser) single nucleotide variant Muscle eye brain disease [RCV001277257]|not provided [RCV000435879] Chr1:46194931 [GRCh38]
Chr1:46660603 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.415G>C (p.Ala139Pro) single nucleotide variant not specified [RCV000518767] Chr1:46196017 [GRCh38]
Chr1:46661689 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1212-4T>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000977068]|not specified [RCV000443706] Chr1:46192594 [GRCh38]
Chr1:46658266 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.507C>T (p.Pro169=) single nucleotide variant not specified [RCV000441056] Chr1:46195838 [GRCh38]
Chr1:46661510 [GRCh37]
Chr1:1p34.1
likely benign
GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3 copy number gain See cases [RCV000448110] Chr1:46078097..46725770 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3
likely pathogenic
NM_017739.3(POMGNT1):c.421-13_421-10dup duplication not specified [RCV000480586] Chr1:46195933..46195934 [GRCh38]
Chr1:46661605..46661606 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.355G>A (p.Val119Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000817043]|Muscle eye brain disease [RCV000763936]|not provided [RCV000485011] Chr1:46196077 [GRCh38]
Chr1:46661749 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1463G>A (p.Arg488Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 [RCV000984207]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000984208]|Muscle eye brain disease [RCV000984206]|Retinitis pigmentosa 76 [RCV000984209]|not provided [RCV000479982] Chr1:46192174 [GRCh38]
Chr1:46657846 [GRCh37]
Chr1:1p34.1
likely pathogenic|uncertain significance
NM_017739.3(POMGNT1):c.550C>T (p.His184Tyr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000531957]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001007817]|Muscle eye brain disease [RCV001275753] Chr1:46194946 [GRCh38]
Chr1:46660618 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.440G>A (p.Arg147His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000543475]|Muscle eye brain disease [RCV001275755]|not specified [RCV000504514] Chr1:46195905 [GRCh38]
Chr1:46661577 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3 copy number gain See cases [RCV000511609] Chr1:46541307..47088882 [GRCh37]
Chr1:1p34.1-33
uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_017739.3(POMGNT1):c.1880C>T (p.Pro627Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000525778] Chr1:46189473 [GRCh38]
Chr1:46655145 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.535-14C>G single nucleotide variant not specified [RCV000602619] Chr1:46194975 [GRCh38]
Chr1:46660647 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1532A>G (p.Tyr511Cys) single nucleotide variant not provided [RCV000596145] Chr1:46192105 [GRCh38]
Chr1:46657777 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.652+19A>G single nucleotide variant not specified [RCV000599875] Chr1:46194825 [GRCh38]
Chr1:46660497 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.477dup (p.Met160fs) duplication not provided [RCV000597718] Chr1:46195867..46195868 [GRCh38]
Chr1:46661539..46661540 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1305G>A (p.Glu435=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000549154] Chr1:46192416 [GRCh38]
Chr1:46658088 [GRCh37]
Chr1:1p34.1
likely benign
NM_001290130.1(POMGNT1):c.-4C>T single nucleotide variant not provided [RCV000594088] Chr1:46195919 [GRCh38]
Chr1:46661591 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001243766.1(POMGNT1):c.1752_1754TGA[1] (p.Asp586del) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648198]|not provided [RCV000594477] Chr1:46189882..46189884 [GRCh38]
Chr1:46655554..46655556 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.624C>T (p.Asp208=) single nucleotide variant not specified [RCV000609481] Chr1:46194872 [GRCh38]
Chr1:46660544 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1284+8G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000871193]|not specified [RCV000601559] Chr1:46192510 [GRCh38]
Chr1:46658182 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.535-7C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000890554]|not specified [RCV000615940] Chr1:46194968 [GRCh38]
Chr1:46660640 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1683T>C (p.Pro561=) single nucleotide variant not provided [RCV000595995] Chr1:46189956 [GRCh38]
Chr1:46655628 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-17C>T single nucleotide variant not specified [RCV000607546] Chr1:46189584 [GRCh38]
Chr1:46655256 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1509C>T (p.Ile503=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000538052] Chr1:46192128 [GRCh38]
Chr1:46657800 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1732T>C (p.Phe578Leu) single nucleotide variant not provided [RCV000594465] Chr1:46189907 [GRCh38]
Chr1:46655579 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.861C>T (p.Ile287=) single nucleotide variant not specified [RCV000611705] Chr1:46194292 [GRCh38]
Chr1:46659964 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1101C>T (p.Arg367=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648193] Chr1:46193314 [GRCh38]
Chr1:46658986 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1152G>A (p.Pro384=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648195] Chr1:46193174 [GRCh38]
Chr1:46658846 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.689C>G (p.Ala230Gly) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648200] Chr1:46194615 [GRCh38]
Chr1:46660287 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.656C>T (p.Pro219Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648201] Chr1:46194648 [GRCh38]
Chr1:46660320 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1335del (p.Met446fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648202] Chr1:46192386 [GRCh38]
Chr1:46658058 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1099C>T (p.Arg367Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648205] Chr1:46193316 [GRCh38]
Chr1:46658988 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.584G>A (p.Ser195Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000648206]|Muscle eye brain disease [RCV001275752] Chr1:46194912 [GRCh38]
Chr1:46660584 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.821G>A (p.Gly274Asp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000698819] Chr1:46194332 [GRCh38]
Chr1:46660004 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1842_1844del (p.Leu614del) deletion Muscle eye brain disease [RCV000670896] Chr1:46189509..46189511 [GRCh38]
Chr1:46655181..46655183 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.*513del deletion Muscle eye brain disease [RCV000670201] Chr1:46188757 [GRCh38]
Chr1:46654429 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.*500G>A single nucleotide variant Muscle eye brain disease [RCV000665224] Chr1:46188770 [GRCh38]
Chr1:46654442 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup) duplication Muscle eye brain disease [RCV000673890] Chr1:46189278..46189279 [GRCh38]
Chr1:46654950..46654951 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001243766.1(POMGNT1):c.1985+2_1985+5del deletion Muscle eye brain disease [RCV000673932] Chr1:46189237..46189240 [GRCh38]
Chr1:46654909..46654912 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1947G>T (p.Lys649Asn) single nucleotide variant Muscle eye brain disease [RCV000670376] Chr1:46189306 [GRCh38]
Chr1:46654978 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1604+1G>A single nucleotide variant Muscle eye brain disease [RCV000668367] Chr1:46190719 [GRCh38]
Chr1:46656391 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.753G>T (p.Glu251Asp) single nucleotide variant Muscle eye brain disease [RCV000680075] Chr1:46194400 [GRCh38]
Chr1:46660072 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1212-1G>C single nucleotide variant Muscle eye brain disease [RCV000665626] Chr1:46192591 [GRCh38]
Chr1:46658263 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1152+2T>C single nucleotide variant Muscle eye brain disease [RCV000674268] Chr1:46193172 [GRCh38]
Chr1:46658844 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.*531C>T single nucleotide variant Muscle eye brain disease [RCV000668644] Chr1:46188739 [GRCh38]
Chr1:46654411 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1865T>C (p.Leu622Pro) single nucleotide variant Muscle eye brain disease [RCV000665970] Chr1:46189488 [GRCh38]
Chr1:46655160 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1905del (p.Lys635fs) deletion Muscle eye brain disease [RCV000672861] Chr1:46189348 [GRCh38]
Chr1:46655020 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1895+1G>C single nucleotide variant Muscle eye brain disease [RCV000673103] Chr1:46189457 [GRCh38]
Chr1:46655129 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+1G>C single nucleotide variant Muscle eye brain disease [RCV000664536] Chr1:46194273 [GRCh38]
Chr1:46659945 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.385C>T (p.Arg129Trp) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001099667]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001099668]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001244825]|Muscle eye brain disease [RCV000674794]|not provided [RCV001200334] Chr1:46196047 [GRCh38]
Chr1:46661719 [GRCh37]
Chr1:1p34.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_017739.3(POMGNT1):c.1539+1del deletion Muscle eye brain disease [RCV000665466] Chr1:46192097 [GRCh38]
Chr1:46657769 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.*499G>A single nucleotide variant Muscle eye brain disease [RCV000670443] Chr1:46188771 [GRCh38]
Chr1:46654443 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.*335_*361del deletion Muscle eye brain disease [RCV000674370] Chr1:46188909..46188935 [GRCh38]
Chr1:46654581..46654607 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.*404_*405dup duplication Muscle eye brain disease [RCV000671225] Chr1:46188864..46188865 [GRCh38]
Chr1:46654536..46654537 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1786-1G>A single nucleotide variant Muscle eye brain disease [RCV000667654] Chr1:46189568 [GRCh38]
Chr1:46655240 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1852A>T (p.Lys618Ter) single nucleotide variant Muscle eye brain disease [RCV000667729] Chr1:46189501 [GRCh38]
Chr1:46655173 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.512_517dup (p.Arg171_Val172dup) duplication Muscle eye brain disease [RCV000664654] Chr1:46195827..46195828 [GRCh38]
Chr1:46661499..46661500 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.458C>G (p.Ser153Ter) single nucleotide variant Muscle eye brain disease [RCV000666156] Chr1:46195887 [GRCh38]
Chr1:46661559 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.653-2A>C single nucleotide variant Muscle eye brain disease [RCV000666233] Chr1:46194653 [GRCh38]
Chr1:46660325 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.1104_1105del (p.Gln370fs) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001213624]|Muscle eye brain disease [RCV000665090] Chr1:46193310..46193311 [GRCh38]
Chr1:46658982..46658983 [GRCh37]
Chr1:1p34.1
pathogenic|likely pathogenic
NM_017739.3(POMGNT1):c.1649+2T>G single nucleotide variant Muscle eye brain disease [RCV000668770] Chr1:46190471 [GRCh38]
Chr1:46656143 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1605-1G>C single nucleotide variant Muscle eye brain disease [RCV000670587] Chr1:46190518 [GRCh38]
Chr1:46656190 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_001290129.1(POMGNT1):c.*5_*7TCC[1] microsatellite Muscle eye brain disease [RCV000670603] Chr1:46189260..46189262 [GRCh38]
Chr1:46654932..46654934 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1604+2T>C single nucleotide variant Muscle eye brain disease [RCV000665812] Chr1:46190718 [GRCh38]
Chr1:46656390 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.794G>C (p.Arg265Pro) single nucleotide variant Muscle eye brain disease [RCV000674865] Chr1:46194359 [GRCh38]
Chr1:46660031 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.880-1G>A single nucleotide variant Muscle eye brain disease [RCV000667582] Chr1:46193926 [GRCh38]
Chr1:46659598 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.419C>T (p.Thr140Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000690230] Chr1:46196013 [GRCh38]
Chr1:46661685 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1924A>T (p.Ile642Phe) single nucleotide variant not provided [RCV000712841] Chr1:46189329 [GRCh38]
Chr1:46655001 [GRCh37]
Chr1:1p34.1
uncertain significance
NC_000001.11:g.(?_46188699)_(46190009_?)del deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000708016] Chr1:46188699..46190009 [GRCh38]
Chr1:46654371..46655681 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.908C>T (p.Pro303Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000684863]|not provided [RCV001249304] Chr1:46193897 [GRCh38]
Chr1:46659569 [GRCh37]
Chr1:1p34.1
uncertain significance|not provided
NM_017739.3(POMGNT1):c.1091A>G (p.Lys364Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000685215] Chr1:46193324 [GRCh38]
Chr1:46658996 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001243766.1(POMGNT1):c.1848_1850GAA[2] (p.Lys618del) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000703196] Chr1:46189497..46189499 [GRCh38]
Chr1:46655169..46655171 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1697T>C (p.Phe566Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000693960]|Muscle eye brain disease [RCV001277249] Chr1:46189942 [GRCh38]
Chr1:46655614 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.1-33(chr1:46372688-47188150)x3 copy number gain not provided [RCV000736482] Chr1:46372688..47188150 [GRCh37]
Chr1:1p34.1-33
uncertain significance
NM_017739.3(POMGNT1):c.1027-4C>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000940236] Chr1:46193392 [GRCh38]
Chr1:46659064 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.991C>T (p.Gln331Ter) single nucleotide variant not provided [RCV000760851] Chr1:46193599 [GRCh38]
Chr1:46659271 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1588C>G (p.Leu530Val) single nucleotide variant not provided [RCV000761659] Chr1:46190736 [GRCh38]
Chr1:46656408 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.752-15G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096115]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096116] Chr1:46194416 [GRCh38]
Chr1:46660088 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1201G>A (p.Asp401Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001066469] Chr1:46192910 [GRCh38]
Chr1:46658582 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1268C>T (p.Ser423Phe) single nucleotide variant Muscle eye brain disease [RCV000986314] Chr1:46192534 [GRCh38]
Chr1:46658206 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.879+7G>A single nucleotide variant not provided [RCV000944857] Chr1:46194267 [GRCh38]
Chr1:46659939 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.747A>G (p.Ala249=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000865468]|Muscle eye brain disease [RCV001275749] Chr1:46194557 [GRCh38]
Chr1:46660229 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1041G>A (p.Val347=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000928548] Chr1:46193374 [GRCh38]
Chr1:46659046 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1111-9C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000877561]|Muscle eye brain disease [RCV001277252] Chr1:46193224 [GRCh38]
Chr1:46658896 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.421-9C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000945203] Chr1:46195933 [GRCh38]
Chr1:46661605 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1758C>T (p.Asp586=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000892024] Chr1:46189881 [GRCh38]
Chr1:46655553 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1215C>T (p.Phe405=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000906229] Chr1:46192587 [GRCh38]
Chr1:46658259 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1605-9C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000964581] Chr1:46190526 [GRCh38]
Chr1:46656198 [GRCh37]
Chr1:1p34.1
likely benign
NM_005727.4(TSPAN1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000899109] Chr1:46181108 [GRCh38]
Chr1:46646780 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1482C>T (p.Asp494=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001099571]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000903844]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001099570] Chr1:46192155 [GRCh38]
Chr1:46657827 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.420G>A (p.Thr140=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097866]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000950279]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097865]|Muscle eye brain disease [RCV001272274] Chr1:46196012 [GRCh38]
Chr1:46661684 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.540G>A (p.Glu180=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000983766] Chr1:46194956 [GRCh38]
Chr1:46660628 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1786-5A>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000951000] Chr1:46189572 [GRCh38]
Chr1:46655244 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.4(POMGNT1):c.1911C>G (p.Pro637=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001062396] Chr1:46189342 [GRCh38]
Chr1:46655014 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1230C>G (p.Ile410Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001058964] Chr1:46192572 [GRCh38]
Chr1:46658244 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1780G>T (p.Ala594Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001052714] Chr1:46189859 [GRCh38]
Chr1:46655531 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.926G>A (p.Gly309Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001051983]|Muscle eye brain disease [RCV001277254] Chr1:46193879 [GRCh38]
Chr1:46659551 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.790C>T (p.Arg264Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001052004] Chr1:46194363 [GRCh38]
Chr1:46660035 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.751+1G>A single nucleotide variant POMGNT1-Related Disorders [RCV000778983] Chr1:46194552 [GRCh38]
Chr1:46660224 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_017739.3(POMGNT1):c.511C>T (p.Arg171Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000803088] Chr1:46195834 [GRCh38]
Chr1:46661506 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1160A>G (p.Lys387Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000804855] Chr1:46192951 [GRCh38]
Chr1:46658623 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.439C>T (p.Arg147Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000807795] Chr1:46195906 [GRCh38]
Chr1:46661578 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_001243766.1(POMGNT1):c.1526A>G (p.Asn509Ser) single nucleotide variant not provided [RCV000782030] Chr1:46192111 [GRCh38]
Chr1:46657783 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.927del (p.Asn310fs) deletion POMGNT1-Related Disorders [RCV000778244] Chr1:46193878 [GRCh38]
Chr1:46659550 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1919C>T (p.Thr640Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000818799] Chr1:46189334 [GRCh38]
Chr1:46655006 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.880-5C>T single nucleotide variant not provided [RCV000941488] Chr1:46193930 [GRCh38]
Chr1:46659602 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.492C>T (p.Leu164=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000960708]|Muscle eye brain disease [RCV001277258] Chr1:46195853 [GRCh38]
Chr1:46661525 [GRCh37]
Chr1:1p34.1
likely benign|uncertain significance
NM_017739.3(POMGNT1):c.807C>T (p.Cys269=) single nucleotide variant not provided [RCV000874863] Chr1:46194346 [GRCh38]
Chr1:46660018 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.522C>T (p.Ile174=) single nucleotide variant not provided [RCV000978743] Chr1:46195823 [GRCh38]
Chr1:46661495 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.535-7C>G single nucleotide variant not provided [RCV000875983] Chr1:46194968 [GRCh38]
Chr1:46660640 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1230C>T (p.Ile410=) single nucleotide variant not provided [RCV000930143] Chr1:46192572 [GRCh38]
Chr1:46658244 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1338G>A (p.Met446Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000817349] Chr1:46192383 [GRCh38]
Chr1:46658055 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1414-11A>C single nucleotide variant not provided [RCV000842376] Chr1:46192234 [GRCh38]
Chr1:46657906 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.652+1G>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000796490]|Muscle eye brain disease [RCV001275751] Chr1:46194843 [GRCh38]
Chr1:46660515 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1198G>C (p.Val400Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000797880]|Muscle eye brain disease [RCV001275234] Chr1:46192913 [GRCh38]
Chr1:46658585 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.626C>T (p.Thr209Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798295] Chr1:46194870 [GRCh38]
Chr1:46660542 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1462C>T (p.Arg488Ter) single nucleotide variant Inborn genetic diseases [RCV001266791]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000823735] Chr1:46192175 [GRCh38]
Chr1:46657847 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1212-81C>T single nucleotide variant not provided [RCV000830214] Chr1:46192671 [GRCh38]
Chr1:46658343 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1539+319G>T single nucleotide variant not provided [RCV000840518] Chr1:46191779 [GRCh38]
Chr1:46657451 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1693T>A (p.Ser565Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000801889] Chr1:46189946 [GRCh38]
Chr1:46655618 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1669C>A (p.His557Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000808762] Chr1:46189970 [GRCh38]
Chr1:46655642 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1001_1002del (p.Thr334fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000806529] Chr1:46193588..46193589 [GRCh38]
Chr1:46659260..46659261 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1561A>G (p.Lys521Glu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000815293]|Muscle eye brain disease [RCV001275231] Chr1:46190763 [GRCh38]
Chr1:46656435 [GRCh37]
Chr1:1p34.1
uncertain significance
NC_000001.10:g.(?_46656135)_(46656466_?)dup duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000815909] Chr1:46190463..46190794 [GRCh38]
Chr1:46656135..46656466 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1650-212G>A single nucleotide variant not provided [RCV000826752] Chr1:46190201 [GRCh38]
Chr1:46655873 [GRCh37]
Chr1:1p34.1
benign
NM_017739.4(POMGNT1):c.1889C>G (p.Pro630Arg) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001095995]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001095994]|Muscle eye brain disease [RCV001277591] Chr1:46189464 [GRCh38]
Chr1:46655136 [GRCh37]
Chr1:1p34.1
benign|uncertain significance
NM_017739.4(POMGNT1):c.1151C>T (p.Pro384Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001044346] Chr1:46193175 [GRCh38]
Chr1:46658847 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1721C>T (p.Thr574Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000815551]|Muscle eye brain disease [RCV001275230] Chr1:46189918 [GRCh38]
Chr1:46655590 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.951-52A>G single nucleotide variant not provided [RCV000830212] Chr1:46193691 [GRCh38]
Chr1:46659363 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1876G>A (p.Val626Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000797760]|Muscle eye brain disease [RCV001275228] Chr1:46189477 [GRCh38]
Chr1:46655149 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.*34G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101459]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001095993] Chr1:46189236 [GRCh38]
Chr1:46654908 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1539+119A>G single nucleotide variant not provided [RCV000826750] Chr1:46191979 [GRCh38]
Chr1:46657651 [GRCh37]
Chr1:1p34.1
benign
NM_017739.3(POMGNT1):c.1539+215T>G single nucleotide variant not provided [RCV000826751] Chr1:46191883 [GRCh38]
Chr1:46657555 [GRCh37]
Chr1:1p34.1
benign
NC_000001.11:g.(?_46190463)_(46190794_?)del deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000798153] Chr1:46190463..46190794 [GRCh38]
Chr1:46656135..46656466 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.3(POMGNT1):c.1161G>T (p.Lys387Asn) single nucleotide variant POMGNT1-Related Disorders [RCV000791118] Chr1:46192950 [GRCh38]
Chr1:46658622 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.796C>T (p.Arg266Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000876799]|Muscle eye brain disease [RCV001277255] Chr1:46194357 [GRCh38]
Chr1:46660029 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1365G>A (p.Arg455=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000874972]|Muscle eye brain disease [RCV001277251] Chr1:46192356 [GRCh38]
Chr1:46658028 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1910C>T (p.Pro637Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000808276] Chr1:46189343 [GRCh38]
Chr1:46655015 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.1212-66T>C single nucleotide variant not provided [RCV000830215] Chr1:46192656 [GRCh38]
Chr1:46658328 [GRCh37]
Chr1:1p34.1
benign
NM_017739.4(POMGNT1):c.862G>A (p.Glu288Lys) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001096113]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001096114]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001221291] Chr1:46194291 [GRCh38]
Chr1:46659963 [GRCh37]
Chr1:1p34.1
uncertain significance
GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3 copy number gain not provided [RCV001005084] Chr1:46501759..46898503 [GRCh37]
Chr1:1p34.1-33
uncertain significance
GRCh37/hg19 1p34.1(chr1:46541327-46668698)x3 copy number gain not provided [RCV000849415] Chr1:46541327..46668698 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.910G>A (p.Val304Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001202343] Chr1:46193895 [GRCh38]
Chr1:46659567 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.658G>A (p.Val220Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001223555] Chr1:46194646 [GRCh38]
Chr1:46660318 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1152+3G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001226475] Chr1:46193171 [GRCh38]
Chr1:46658843 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.562A>G (p.Thr188Ala) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001226907] Chr1:46194934 [GRCh38]
Chr1:46660606 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.631G>A (p.Ala211Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001209966] Chr1:46194865 [GRCh38]
Chr1:46660537 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.959G>A (p.Arg320His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001238274] Chr1:46193631 [GRCh38]
Chr1:46659303 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1501T>C (p.Phe501Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001201550] Chr1:46192136 [GRCh38]
Chr1:46657808 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.3(POMGNT1):c.834A>G (p.Val278=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000930938] Chr1:46194319 [GRCh38]
Chr1:46659991 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.504G>A (p.Ala168=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000969906] Chr1:46195841 [GRCh38]
Chr1:46661513 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.834A>T (p.Val278=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000931122] Chr1:46194319 [GRCh38]
Chr1:46659991 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.735A>G (p.Pro245=) single nucleotide variant Muscle eye brain disease [RCV001277256]|not provided [RCV000953928] Chr1:46194569 [GRCh38]
Chr1:46660241 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.747A>C (p.Ala249=) single nucleotide variant not provided [RCV000932072] Chr1:46194557 [GRCh38]
Chr1:46660229 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1539+9G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000942517] Chr1:46192089 [GRCh38]
Chr1:46657761 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.1680C>T (p.Asn560=) single nucleotide variant not provided [RCV000932182] Chr1:46189959 [GRCh38]
Chr1:46655631 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.3(POMGNT1):c.900C>A (p.Leu300=) single nucleotide variant not provided [RCV000888615] Chr1:46193905 [GRCh38]
Chr1:46659577 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.4(POMGNT1):c.772G>A (p.Asp258Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001034927]|Muscle eye brain disease [RCV001275748] Chr1:46194381 [GRCh38]
Chr1:46660053 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1867A>C (p.Met623Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001245091] Chr1:46189486 [GRCh38]
Chr1:46655158 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1395G>C (p.Lys465Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001050984] Chr1:46192326 [GRCh38]
Chr1:46657998 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1878C>T (p.Val626=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001095997]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001095996] Chr1:46189475 [GRCh38]
Chr1:46655147 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1605-3C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001046320] Chr1:46190520 [GRCh38]
Chr1:46656192 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1102G>A (p.Val368Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001068154]|Muscle eye brain disease [RCV001275747] Chr1:46193313 [GRCh38]
Chr1:46658985 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1344G>T (p.Gly448=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001244100] Chr1:46192377 [GRCh38]
Chr1:46658049 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1153-1G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001228164] Chr1:46192959 [GRCh38]
Chr1:46658631 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.3(POMGNT1):c.1591A>C (p.Arg531=) single nucleotide variant not provided [RCV000913141] Chr1:46190733 [GRCh38]
Chr1:46656405 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.4(POMGNT1):c.1605-8C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV000956345]|Muscle eye brain disease [RCV001277593] Chr1:46190525 [GRCh38]
Chr1:46656197 [GRCh37]
Chr1:1p34.1
likely benign
NM_017739.4(POMGNT1):c.1282C>T (p.Gln428Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001245885] Chr1:46192520 [GRCh38]
Chr1:46658192 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.4(POMGNT1):c.1168G>A (p.Val390Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001046460] Chr1:46192943 [GRCh38]
Chr1:46658615 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.*207G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101458]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101457] Chr1:46189063 [GRCh38]
Chr1:46654735 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1246G>C (p.Asp416His) single nucleotide variant not provided [RCV001092677] Chr1:46192556 [GRCh38]
Chr1:46658228 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001069566] Chr1:46190768 [GRCh38]
Chr1:46656440 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.4(POMGNT1):c.1285-2A>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001234616] Chr1:46192438 [GRCh38]
Chr1:46658110 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.1698C>T (p.Phe566=) single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001097779]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001097780] Chr1:46189941 [GRCh38]
Chr1:46655613 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1846C>G (p.Arg616Gly) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001234219] Chr1:46189507 [GRCh38]
Chr1:46655179 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1814G>T (p.Arg605Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001047810] Chr1:46189539 [GRCh38]
Chr1:46655211 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1846C>T (p.Arg616Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001202210] Chr1:46189507 [GRCh38]
Chr1:46655179 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1414C>A (p.Leu472Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001230735] Chr1:46192223 [GRCh38]
Chr1:46657895 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.389del (p.Gly130fs) deletion not provided [RCV001092678] Chr1:46196043 [GRCh38]
Chr1:46661715 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.*221G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV001101455]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001101456] Chr1:46189049 [GRCh38]
Chr1:46654721 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) single nucleotide variant Limb-girdle muscular dystrophy, autosomal recessive [RCV001175511]|not provided [RCV001092676] Chr1:46192396 [GRCh38]
Chr1:46658068 [GRCh37]
Chr1:1p34.1
pathogenic
NM_017739.4(POMGNT1):c.1154A>T (p.Glu385Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001248454] Chr1:46192957 [GRCh38]
Chr1:46658629 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001007816] Chr1:46195884 [GRCh38]
Chr1:46661556 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1828G>T (p.Gly610Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001203408] Chr1:46189525 [GRCh38]
Chr1:46655197 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1111-9C>G single nucleotide variant Muscular hypotonia [RCV001260518] Chr1:46193224 [GRCh38]
Chr1:46658896 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro) single nucleotide variant not provided [RCV001268425] Chr1:46189521 [GRCh38]
Chr1:46655193 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.*11del deletion Autism spectrum disorder [RCV001257775] Chr1:46189259 [GRCh38]
Chr1:46654931 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.565G>C (p.Ala189Pro) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001299140] Chr1:46194931 [GRCh38]
Chr1:46660603 [GRCh37]
Chr1:1p34.1
uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
NM_017739.4(POMGNT1):c.986C>T (p.Ser329Phe) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001302353] Chr1:46193604 [GRCh38]
Chr1:46659276 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.599C>T (p.Ala200Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001340026] Chr1:46194897 [GRCh38]
Chr1:46660569 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1634T>C (p.Val545Ala) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001314962] Chr1:46190488 [GRCh38]
Chr1:46656160 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.921T>G (p.Ile307Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001342012] Chr1:46193884 [GRCh38]
Chr1:46659556 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.628T>C (p.Trp210Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001321615] Chr1:46194868 [GRCh38]
Chr1:46660540 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1897G>A (p.Val633Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001346542] Chr1:46189356 [GRCh38]
Chr1:46655028 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.614G>A (p.Gly205Asp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001303668] Chr1:46194882 [GRCh38]
Chr1:46660554 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.637G>A (p.Val213Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001326555] Chr1:46194859 [GRCh38]
Chr1:46660531 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.979G>A (p.Gly327Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001344890] Chr1:46193611 [GRCh38]
Chr1:46659283 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1839A>G (p.Arg613=) single nucleotide variant Muscle eye brain disease [RCV001277592] Chr1:46189514 [GRCh38]
Chr1:46655186 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1111-7C>T single nucleotide variant Muscle eye brain disease [RCV001277595] Chr1:46193222 [GRCh38]
Chr1:46658894 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1615G>A (p.Glu539Lys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001346042] Chr1:46190507 [GRCh38]
Chr1:46656179 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.669G>C (p.Glu223Asp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001352363] Chr1:46194635 [GRCh38]
Chr1:46660307 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.512G>A (p.Arg171Gln) single nucleotide variant Muscle eye brain disease [RCV001277596] Chr1:46195833 [GRCh38]
Chr1:46661505 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1597G>T (p.Val533Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001322212] Chr1:46190727 [GRCh38]
Chr1:46656399 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1693T>C (p.Ser565Pro) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001339904] Chr1:46189946 [GRCh38]
Chr1:46655618 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.506C>T (p.Pro169Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001345347] Chr1:46195839 [GRCh38]
Chr1:46661511 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) single nucleotide variant Intellectual disability [RCV001293357] Chr1:46193315 [GRCh38]
Chr1:46658987 [GRCh37]
Chr1:1p34.1
likely pathogenic
NM_017739.4(POMGNT1):c.1111-10C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001343187] Chr1:46193225 [GRCh38]
Chr1:46658897 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1826G>A (p.Arg609Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 [RCV001332179] Chr1:46189527 [GRCh38]
Chr1:46655199 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.842G>T (p.Cys281Phe) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 [RCV001305853] Chr1:46194311 [GRCh38]
Chr1:46659983 [GRCh37]
Chr1:1p34.1
uncertain significance
NM_017739.4(POMGNT1):c.1413+6T>G single nucleotide variant Muscle eye brain disease [RCV001277594] Chr1:46192302 [GRCh38]
Chr1:46657974 [GRCh37]
Chr1:1p34.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20657 AgrOrtholog
COSMIC TSPAN1 COSMIC
Ensembl Genes ENSG00000117472 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000361072 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000372003 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1450.10 UniProtKB/Swiss-Prot
GTEx ENSG00000117472 GTEx
HGNC ID HGNC:20657 ENTREZGENE
Human Proteome Map TSPAN1 Human Proteome Map
InterPro Tetraspanin UniProtKB/Swiss-Prot
  Tetraspanin/Peripherin UniProtKB/Swiss-Prot
  Tetraspanin_CS UniProtKB/Swiss-Prot
  Tetraspanin_EC2_sf UniProtKB/Swiss-Prot
KEGG Report hsa:10103 UniProtKB/Swiss-Prot
NCBI Gene 10103 ENTREZGENE
OMIM 613170 OMIM
Pfam Tetraspanin UniProtKB/Swiss-Prot
PharmGKB PA134938100 PharmGKB
PIRSF Tetraspanin UniProtKB/Swiss-Prot
PRINTS TMFOUR UniProtKB/Swiss-Prot
PROSITE TM4_1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48652 UniProtKB/Swiss-Prot
UniProt O60635 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DQ14 UniProtKB/Swiss-Prot
  O60745 UniProtKB/Swiss-Prot
  Q5VST0 UniProtKB/Swiss-Prot