MYORG (myogenesis regulating glycosidase) - Rat Genome Database

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Gene: MYORG (myogenesis regulating glycosidase) Homo sapiens
Analyze
Symbol: MYORG
Name: myogenesis regulating glycosidase (Ensembl:myogenesis regulating glycosidase (putative))
RGD ID: 1320364
HGNC Page HGNC:19918
Description: Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC57462; IBGC7; KIAA1161; myogenesis regulating glycosidase (putative); myogenesis-regulating glycosidase; NET37; uncharacterized family 31 glucosidase KIAA1161
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38934,366,666 - 34,376,898 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl934,366,666 - 34,376,898 (-)EnsemblGRCh38hg38GRCh38
GRCh37934,366,664 - 34,376,896 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,358,907 - 34,366,894 (-)NCBINCBI36Build 36hg18NCBI36
Celera934,300,413 - 34,308,399 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef934,323,996 - 34,331,984 (-)NCBIHuRef
CHM1_1934,368,669 - 34,376,658 (-)NCBICHM1_1
T2T-CHM13v2.0934,385,154 - 34,395,421 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574461   PMID:12477932   PMID:19204726   PMID:19706595   PMID:21873635   PMID:22268729   PMID:26186194   PMID:28514442   PMID:28675297   PMID:29507755   PMID:29910000   PMID:29955039  
PMID:30589467   PMID:30649222   PMID:30656188   PMID:30895394   PMID:31009047   PMID:31621601   PMID:31951047   PMID:32409323   PMID:32896900   PMID:33961781   PMID:34346093   PMID:35696571  
PMID:35748872   PMID:36129849   PMID:36215168   PMID:37680026   PMID:39180105  


Genomics

Comparative Map Data
MYORG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38934,366,666 - 34,376,898 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl934,366,666 - 34,376,898 (-)EnsemblGRCh38hg38GRCh38
GRCh37934,366,664 - 34,376,896 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36934,358,907 - 34,366,894 (-)NCBINCBI36Build 36hg18NCBI36
Celera934,300,413 - 34,308,399 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef934,323,996 - 34,331,984 (-)NCBIHuRef
CHM1_1934,368,669 - 34,376,658 (-)NCBICHM1_1
T2T-CHM13v2.0934,385,154 - 34,395,421 (-)NCBIT2T-CHM13v2.0
Myorg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,495,601 - 41,503,132 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl441,495,604 - 41,503,076 (-)EnsemblGRCm39 Ensembl
GRCm38441,491,847 - 41,503,135 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,495,604 - 41,503,076 (-)EnsemblGRCm38mm10GRCm38
MGSCv37441,442,637 - 41,450,109 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36441,684,274 - 41,691,728 (-)NCBIMGSCv36mm8
Celera441,156,888 - 41,164,370 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map421.69NCBI
Myorg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8561,452,956 - 61,460,500 (-)NCBIGRCr8
mRatBN7.2556,654,257 - 56,664,467 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl556,648,643 - 56,664,440 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx558,641,435 - 58,646,878 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0560,460,239 - 60,465,682 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0560,440,961 - 60,446,404 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0557,873,404 - 57,882,008 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl557,876,498 - 57,881,944 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0562,402,424 - 62,409,832 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,917,805 - 58,923,251 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1558,917,973 - 58,920,155 (-)NCBI
Celera555,254,804 - 55,260,248 (-)NCBICelera
Cytogenetic Map5q22NCBI
Myorg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554721,735,292 - 1,740,304 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554721,735,292 - 1,740,304 (+)NCBIChiLan1.0ChiLan1.0
MYORG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21190,227,196 - 90,235,219 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1990,233,136 - 90,243,691 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0934,205,177 - 34,213,351 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1935,013,976 - 35,022,065 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl935,015,847 - 35,017,991 (-)Ensemblpanpan1.1panPan2
MYORG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11151,070,088 - 51,077,595 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1151,071,707 - 51,073,851 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,699,649 - 49,707,145 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01152,012,064 - 52,019,568 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1152,001,553 - 52,019,375 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11150,674,765 - 50,682,260 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01150,542,862 - 50,550,362 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01151,307,660 - 51,315,160 (-)NCBIUU_Cfam_GSD_1.0
Myorg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,912,401 - 165,945,731 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365242,463,645 - 2,471,228 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0 EnsemblNW_0049365242,472,624 - 2,492,768 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365242,472,611 - 2,494,478 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYORG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1032,436,656 - 32,443,968 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11032,436,349 - 32,443,971 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
MYORG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11246,235,327 - 46,243,153 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1246,240,208 - 46,242,352 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603843,352,599 - 43,360,841 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myorg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473638,775,648 - 38,786,112 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYORG
172 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3(chr9:34340255-35163258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053751]|See cases [RCV000053751] Chr9:34340255..35163258 [GRCh38]
Chr9:34340253..35163255 [GRCh37]
Chr9:34330253..35153255 [NCBI36]
Chr9:9p13.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3 copy number gain See cases [RCV000143498] Chr9:33646893..34484057 [GRCh38]
Chr9:33646891..34484055 [GRCh37]
Chr9:33636891..34474055 [NCBI36]
Chr9:9p13.3
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754852] Chr9:34371623 [GRCh38]
Chr9:34371621 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) indel Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754855] Chr9:34372161..34372162 [GRCh38]
Chr9:34372159..34372160 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_020702.5(MYORG):c.1233del (p.Phe411fs) deletion Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754857] Chr9:34371711 [GRCh38]
Chr9:34371709 [GRCh37]
Chr9:9p13.3
pathogenic
I655T single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754859] Chr9:9p13.3 pathogenic
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) microsatellite Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754858] Chr9:34371882..34371884 [GRCh38]
Chr9:34371880..34371882 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754854] Chr9:34372337 [GRCh38]
Chr9:34372335 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754856] Chr9:34371611 [GRCh38]
Chr9:34371609 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_020702.5(MYORG):c.567C>G (p.Ala189=) single nucleotide variant not provided [RCV003314093] Chr9:34372377 [GRCh38]
Chr9:34372375 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3
pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p13.3(chr9:34177959-34385700)x3 copy number gain not provided [RCV000683095] Chr9:34177959..34385700 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754853] Chr9:34372249 [GRCh38]
Chr9:34372247 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_020702.5(MYORG):c.428_442del (p.Leu143_Ile147del) deletion Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853515] Chr9:34372502..34372516 [GRCh38]
Chr9:34372500..34372514 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.687G>C (p.Trp229Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853516] Chr9:34372257 [GRCh38]
Chr9:34372255 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) microsatellite Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853532]|not provided [RCV003424377] Chr9:34371847..34371852 [GRCh38]
Chr9:34371845..34371850 [GRCh37]
Chr9:9p13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_020702.5(MYORG):c.225G>A (p.Trp75Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000754851] Chr9:34372719 [GRCh38]
Chr9:34372717 [GRCh37]
Chr9:9p13.3
pathogenic
NM_020702.5(MYORG):c.954G>T (p.Trp318Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV003314268] Chr9:34371990 [GRCh38]
Chr9:34371988 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_020702.5(MYORG):c.1799T>G (p.Val600Gly) single nucleotide variant not provided [RCV003312733] Chr9:34371145 [GRCh38]
Chr9:34371143 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.703GCC[1] (p.Ala236del) microsatellite not provided [RCV003312734] Chr9:34372236..34372238 [GRCh38]
Chr9:34372234..34372236 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.701_702del (p.Ala234fs) microsatellite Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV003315134] Chr9:34372242..34372243 [GRCh38]
Chr9:34372240..34372241 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.747G>C (p.Trp249Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853528] Chr9:34372197 [GRCh38]
Chr9:34372195 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.103A>G (p.Met35Val) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853533] Chr9:34372841 [GRCh38]
Chr9:34372839 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) duplication Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853529]|not provided [RCV002538876] Chr9:34372595..34372596 [GRCh38]
Chr9:34372593..34372594 [GRCh37]
Chr9:9p13.3
pathogenic|likely pathogenic
NM_020702.5(MYORG):c.191G>A (p.Gly64Glu) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853531] Chr9:34372753 [GRCh38]
Chr9:34372751 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_020702.5(MYORG):c.488G>A (p.Trp163Ter) single nucleotide variant not provided [RCV001532638] Chr9:34372456 [GRCh38]
Chr9:34372454 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853514] Chr9:34371616 [GRCh38]
Chr9:34371614 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.1865T>C (p.Leu622Pro) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853522] Chr9:34371079 [GRCh38]
Chr9:34371077 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1427C>A (p.Thr476Asn) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853525]|not provided [RCV003117619] Chr9:34371517 [GRCh38]
Chr9:34371515 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1831C>T (p.Arg611Trp) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853530] Chr9:34371113 [GRCh38]
Chr9:34371111 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1300G>C (p.Asp434His) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853526] Chr9:34371644 [GRCh38]
Chr9:34371642 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853517] Chr9:34371513 [GRCh38]
Chr9:34371511 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.1118C>A (p.Ala373Asp) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853521] Chr9:34371826 [GRCh38]
Chr9:34371824 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.338T>G (p.Leu113Arg) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853523] Chr9:34372606 [GRCh38]
Chr9:34372604 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1967T>C (p.Ile656Thr) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853524]|Inborn genetic diseases [RCV001266300]|not provided [RCV002536198] Chr9:34370977 [GRCh38]
Chr9:34370975 [GRCh37]
Chr9:9p13.3
pathogenic|uncertain significance
NM_020702.5(MYORG):c.1979T>A (p.Leu660Gln) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV000853527] Chr9:34370965 [GRCh38]
Chr9:34370963 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002470483] Chr9:34371071 [GRCh38]
Chr9:34371069 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.912_914del (p.Ser305del) deletion See cases [RCV002252893] Chr9:34372030..34372032 [GRCh38]
Chr9:34372028..34372030 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.*95del deletion not provided [RCV001595171] Chr9:34370704 [GRCh38]
Chr9:34370702 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.1225G>T (p.Glu409Ter) single nucleotide variant not provided [RCV001532637] Chr9:34371719 [GRCh38]
Chr9:34371717 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
NM_020702.5(MYORG):c.1535T>G (p.Ile512Ser) single nucleotide variant Inborn genetic diseases [RCV001266361] Chr9:34371409 [GRCh38]
Chr9:34371407 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_020702.5(MYORG):c.535G>A (p.Gly179Ser) single nucleotide variant not provided [RCV001311771]|not specified [RCV004034241] Chr9:34372409 [GRCh38]
Chr9:34372407 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.900C>A (p.Tyr300Ter) single nucleotide variant not provided [RCV001268013] Chr9:34372044 [GRCh38]
Chr9:34372042 [GRCh37]
Chr9:9p13.3
pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NM_020702.5(MYORG):c.2083G>C (p.Val695Leu) single nucleotide variant not provided [RCV001311770] Chr9:34370861 [GRCh38]
Chr9:34370859 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1607C>T (p.Pro536Leu) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002290692]|not provided [RCV001342513] Chr9:34371337 [GRCh38]
Chr9:34371335 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002290685]|not provided [RCV001299902] Chr9:34371310 [GRCh38]
Chr9:34371308 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.494_509dup (p.Ala171fs) duplication MYORG-related disorder [RCV003399088]|not provided [RCV001311772] Chr9:34372434..34372435 [GRCh38]
Chr9:34372432..34372433 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.223T>G (p.Trp75Gly) single nucleotide variant not provided [RCV001359896]|not specified [RCV004036749] Chr9:34372721 [GRCh38]
Chr9:34372719 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1852C>A (p.Leu618Met) single nucleotide variant not provided [RCV001356877]|not specified [RCV004034473] Chr9:34371092 [GRCh38]
Chr9:34371090 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1771A>G (p.Ile591Val) single nucleotide variant not provided [RCV001296486] Chr9:34371173 [GRCh38]
Chr9:34371171 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1098T>G (p.Asp366Glu) single nucleotide variant not provided [RCV001360096]|not specified [RCV004036754] Chr9:34371846 [GRCh38]
Chr9:34371844 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.159C>G (p.Asp53Glu) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV001730808]|MYORG-related disorder [RCV003980593]|not provided [RCV001520481]|not specified [RCV001579604] Chr9:34372785 [GRCh38]
Chr9:34372783 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.1488C>G (p.Pro496=) single nucleotide variant MYORG-related disorder [RCV003921139]|not provided [RCV001518097] Chr9:34371456 [GRCh38]
Chr9:34371454 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.595C>A (p.Arg199Ser) single nucleotide variant MYORG-related disorder [RCV003980469]|not provided [RCV001510366] Chr9:34372349 [GRCh38]
Chr9:34372347 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.-63-37G>A single nucleotide variant not provided [RCV001650682] Chr9:34373043 [GRCh38]
Chr9:34373041 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.69= (p.Tyr23=) variation not provided [RCV001509908] Chr9:34372875 [GRCh38]
Chr9:34372873 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.11A>T (p.Asn4Ile) single nucleotide variant MYORG-related disorder [RCV003983923]|not provided [RCV001509909] Chr9:34372933 [GRCh38]
Chr9:34372931 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.69C>G (p.Tyr23Ter) single nucleotide variant not provided [RCV001519550]|not specified [RCV002246401] Chr9:34372875 [GRCh38]
Chr9:34372873 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.1154T>A (p.Phe385Tyr) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV001730788]|MYORG-related disorder [RCV003983941]|not provided [RCV001517934] Chr9:34371790 [GRCh38]
Chr9:34371788 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.1851_1852delinsAA (p.Leu618Met) indel not provided [RCV002239587] Chr9:34371092..34371093 [GRCh38]
Chr9:34371090..34371091 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1721A>T (p.Tyr574Phe) single nucleotide variant not provided [RCV002239588] Chr9:34371223 [GRCh38]
Chr9:34371221 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1216G>T (p.Val406Leu) single nucleotide variant not provided [RCV002239592] Chr9:34371728 [GRCh38]
Chr9:34371726 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1157G>C (p.Arg386Pro) single nucleotide variant not provided [RCV002239593] Chr9:34371787 [GRCh38]
Chr9:34371785 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1152C>T (p.Gly384=) single nucleotide variant not provided [RCV002239594] Chr9:34371792 [GRCh38]
Chr9:34371790 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.477C>T (p.Tyr159=) single nucleotide variant not provided [RCV002239595] Chr9:34372467 [GRCh38]
Chr9:34372465 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.450G>A (p.Val150=) single nucleotide variant not provided [RCV002239596] Chr9:34372494 [GRCh38]
Chr9:34372492 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.413C>T (p.Ala138Val) single nucleotide variant not provided [RCV002239597] Chr9:34372531 [GRCh38]
Chr9:34372529 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.366T>G (p.Leu122=) single nucleotide variant not provided [RCV002239599] Chr9:34372578 [GRCh38]
Chr9:34372576 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1991C>T (p.Pro664Leu) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002283581]|not provided [RCV002238891] Chr9:34370953 [GRCh38]
Chr9:34370951 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1977G>C (p.Thr659=) single nucleotide variant not provided [RCV002238892] Chr9:34370967 [GRCh38]
Chr9:34370965 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1453G>T (p.Val485Phe) single nucleotide variant not provided [RCV002238901] Chr9:34371491 [GRCh38]
Chr9:34371489 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1452C>T (p.Ser484=) single nucleotide variant not provided [RCV002238902] Chr9:34371492 [GRCh38]
Chr9:34371490 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1432C>T (p.Arg478Trp) single nucleotide variant not provided [RCV002238903] Chr9:34371512 [GRCh38]
Chr9:34371510 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1376C>T (p.Ser459Phe) single nucleotide variant not provided [RCV002238905]|not specified [RCV004047344] Chr9:34371568 [GRCh38]
Chr9:34371566 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.752G>A (p.Ser251Asn) single nucleotide variant not provided [RCV002238912] Chr9:34372192 [GRCh38]
Chr9:34372190 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.723C>T (p.Asp241=) single nucleotide variant not provided [RCV002238913] Chr9:34372221 [GRCh38]
Chr9:34372219 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.722A>C (p.Asp241Ala) single nucleotide variant not provided [RCV002238914] Chr9:34372222 [GRCh38]
Chr9:34372220 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.690A>G (p.Leu230=) single nucleotide variant MYORG-related disorder [RCV003926339]|not provided [RCV002238916] Chr9:34372254 [GRCh38]
Chr9:34372252 [GRCh37]
Chr9:9p13.3
benign|likely benign
NM_020702.5(MYORG):c.670A>G (p.Ile224Val) single nucleotide variant not provided [RCV002238917]|not specified [RCV004651965] Chr9:34372274 [GRCh38]
Chr9:34372272 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.363C>T (p.Asp121=) single nucleotide variant MYORG-related disorder [RCV003903624]|not provided [RCV002238918] Chr9:34372581 [GRCh38]
Chr9:34372579 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.327G>A (p.Gln109=) single nucleotide variant not provided [RCV002238919] Chr9:34372617 [GRCh38]
Chr9:34372615 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.326A>C (p.Gln109Pro) single nucleotide variant not provided [RCV002238920] Chr9:34372618 [GRCh38]
Chr9:34372616 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.320G>C (p.Gly107Ala) single nucleotide variant not provided [RCV002238921] Chr9:34372624 [GRCh38]
Chr9:34372622 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
GRCh37/hg19 9p13.3(chr9:34177959-34395237)x3 copy number gain not provided [RCV001834394] Chr9:34177959..34395237 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34370797)_(34372941_?)dup duplication not provided [RCV002238800] Chr9:34370797..34372941 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2103G>A (p.Pro701=) single nucleotide variant not provided [RCV002238888] Chr9:34370841 [GRCh38]
Chr9:34370839 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2041A>G (p.Lys681Glu) single nucleotide variant not provided [RCV002238889] Chr9:34370903 [GRCh38]
Chr9:34370901 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2031G>A (p.Leu677=) single nucleotide variant not provided [RCV002238890] Chr9:34370913 [GRCh38]
Chr9:34370911 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1908C>T (p.Pro636=) single nucleotide variant not provided [RCV002238893] Chr9:34371036 [GRCh38]
Chr9:34371034 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1870G>A (p.Gly624Ser) single nucleotide variant not provided [RCV002238894]|not specified [RCV004047343] Chr9:34371074 [GRCh38]
Chr9:34371072 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1651C>T (p.Pro551Ser) single nucleotide variant not provided [RCV002238895] Chr9:34371293 [GRCh38]
Chr9:34371291 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1603A>G (p.Ile535Val) single nucleotide variant not provided [RCV002238896] Chr9:34371341 [GRCh38]
Chr9:34371339 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1497G>A (p.Ser499=) single nucleotide variant not provided [RCV002238897] Chr9:34371447 [GRCh38]
Chr9:34371445 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1487C>T (p.Pro496Leu) single nucleotide variant not provided [RCV002238898] Chr9:34371457 [GRCh38]
Chr9:34371455 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1476G>A (p.Glu492=) single nucleotide variant MYORG-related disorder [RCV003951344]|not provided [RCV002238899] Chr9:34371468 [GRCh38]
Chr9:34371466 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1469A>G (p.Tyr490Cys) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002283582]|not provided [RCV002238900] Chr9:34371475 [GRCh38]
Chr9:34371473 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1382A>G (p.Lys461Arg) single nucleotide variant not provided [RCV002238904] Chr9:34371562 [GRCh38]
Chr9:34371560 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1245C>G (p.Pro415=) single nucleotide variant not provided [RCV002238906] Chr9:34371699 [GRCh38]
Chr9:34371697 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1069A>T (p.Thr357Ser) single nucleotide variant not provided [RCV002238907] Chr9:34371875 [GRCh38]
Chr9:34371873 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1064T>G (p.Met355Arg) single nucleotide variant MYORG-related disorder [RCV003960953]|not provided [RCV002238908] Chr9:34371880 [GRCh38]
Chr9:34371878 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.943G>A (p.Asp315Asn) single nucleotide variant not provided [RCV002238909]|not specified [RCV004047345] Chr9:34372001 [GRCh38]
Chr9:34371999 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.862G>T (p.Asp288Tyr) single nucleotide variant not provided [RCV002238910] Chr9:34372082 [GRCh38]
Chr9:34372080 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.786C>G (p.Tyr262Ter) single nucleotide variant not provided [RCV002238911] Chr9:34372158 [GRCh38]
Chr9:34372156 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.714_719del (p.Lys238_Val239del) deletion not provided [RCV002238915] Chr9:34372225..34372230 [GRCh38]
Chr9:34372223..34372228 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.238G>T (p.Val80Phe) single nucleotide variant not provided [RCV002238922] Chr9:34372706 [GRCh38]
Chr9:34372704 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.192G>A (p.Gly64=) single nucleotide variant not provided [RCV002238923] Chr9:34372752 [GRCh38]
Chr9:34372750 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.184G>A (p.Val62Ile) single nucleotide variant not provided [RCV002238924] Chr9:34372760 [GRCh38]
Chr9:34372758 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.92C>G (p.Ala31Gly) single nucleotide variant not provided [RCV002238925] Chr9:34372852 [GRCh38]
Chr9:34372850 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.85G>A (p.Ala29Thr) single nucleotide variant not provided [RCV002238926] Chr9:34372859 [GRCh38]
Chr9:34372857 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.43C>A (p.Arg15Ser) single nucleotide variant not provided [RCV002238927] Chr9:34372901 [GRCh38]
Chr9:34372899 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.40dup (p.Arg14fs) duplication MYORG-related disorder [RCV003951345]|not provided [RCV002238928] Chr9:34372903..34372904 [GRCh38]
Chr9:34372901..34372902 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1668C>G (p.Gly556=) single nucleotide variant not provided [RCV002239589] Chr9:34371276 [GRCh38]
Chr9:34371274 [GRCh37]
Chr9:9p13.3
benign
NM_020702.5(MYORG):c.1658T>C (p.Met553Thr) single nucleotide variant not provided [RCV002239590] Chr9:34371286 [GRCh38]
Chr9:34371284 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1243C>T (p.Pro415Ser) single nucleotide variant not provided [RCV002239591] Chr9:34371701 [GRCh38]
Chr9:34371699 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.399C>T (p.Gly133=) single nucleotide variant not provided [RCV002239598] Chr9:34372545 [GRCh38]
Chr9:34372543 [GRCh37]
Chr9:9p13.3
likely benign
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2
uncertain significance|no classifications from unflagged records
NM_020702.5(MYORG):c.2020G>A (p.Asp674Asn) single nucleotide variant not provided [RCV001752847] Chr9:34370924 [GRCh38]
Chr9:34370922 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1598C>T (p.Ser533Leu) single nucleotide variant MYORG-related disorder [RCV003416471]|not provided [RCV001815975] Chr9:34371346 [GRCh38]
Chr9:34371344 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4 copy number gain not specified [RCV002286368] Chr9:33492358..34725916 [GRCh38]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
NM_020702.5(MYORG):c.1858C>T (p.Leu620Phe) single nucleotide variant not specified [RCV004289967] Chr9:34371086 [GRCh38]
Chr9:34371084 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.841T>C (p.Tyr281His) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002470484] Chr9:34372103 [GRCh38]
Chr9:34372101 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV002471395] Chr9:34371156 [GRCh38]
Chr9:34371154 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p13.3(chr9:34247282-34986900)x4 copy number gain not provided [RCV002473496] Chr9:34247282..34986900 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.469A>C (p.Met157Leu) single nucleotide variant not provided [RCV002995828] Chr9:34372475 [GRCh38]
Chr9:34372473 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1660G>A (p.Val554Met) single nucleotide variant not provided [RCV002967467] Chr9:34371284 [GRCh38]
Chr9:34371282 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1698C>A (p.Gly566=) single nucleotide variant not provided [RCV002774863] Chr9:34371246 [GRCh38]
Chr9:34371244 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1728C>A (p.Arg576=) single nucleotide variant not provided [RCV002774862] Chr9:34371216 [GRCh38]
Chr9:34371214 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.264T>A (p.Leu88=) single nucleotide variant not provided [RCV002623201] Chr9:34372680 [GRCh38]
Chr9:34372678 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.351C>A (p.Ser117=) single nucleotide variant not provided [RCV002623155] Chr9:34372593 [GRCh38]
Chr9:34372591 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.19_21del (p.Glu7del) deletion not provided [RCV002735030] Chr9:34372923..34372925 [GRCh38]
Chr9:34372921..34372923 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1608del (p.Ala537fs) deletion not provided [RCV002797404] Chr9:34371336 [GRCh38]
Chr9:34371334 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1463G>C (p.Arg488Pro) single nucleotide variant not provided [RCV002848148] Chr9:34371481 [GRCh38]
Chr9:34371479 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.462C>T (p.Asp154=) single nucleotide variant not provided [RCV002594698] Chr9:34372482 [GRCh38]
Chr9:34372480 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.828G>T (p.Ala276=) single nucleotide variant not provided [RCV002853029] Chr9:34372116 [GRCh38]
Chr9:34372114 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1065G>A (p.Met355Ile) single nucleotide variant not provided [RCV002828550] Chr9:34371879 [GRCh38]
Chr9:34371877 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1317G>C (p.Lys439Asn) single nucleotide variant not provided [RCV002954403] Chr9:34371627 [GRCh38]
Chr9:34371625 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1146C>T (p.Asp382=) single nucleotide variant not provided [RCV002801943] Chr9:34371798 [GRCh38]
Chr9:34371796 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1805C>T (p.Ala602Val) single nucleotide variant not provided [RCV003025077] Chr9:34371139 [GRCh38]
Chr9:34371137 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.234C>T (p.Tyr78=) single nucleotide variant not provided [RCV002766835] Chr9:34372710 [GRCh38]
Chr9:34372708 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.191G>C (p.Gly64Ala) single nucleotide variant not provided [RCV002953979] Chr9:34372753 [GRCh38]
Chr9:34372751 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2019C>G (p.Arg673=) single nucleotide variant not provided [RCV002928571] Chr9:34370925 [GRCh38]
Chr9:34370923 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1979T>C (p.Leu660Pro) single nucleotide variant not provided [RCV002942060] Chr9:34370965 [GRCh38]
Chr9:34370963 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.510_514dup (p.Val172fs) microsatellite not provided [RCV002597793] Chr9:34372429..34372430 [GRCh38]
Chr9:34372427..34372428 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1926C>G (p.Pro642=) single nucleotide variant not provided [RCV002579117] Chr9:34371018 [GRCh38]
Chr9:34371016 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1369G>A (p.Val457Met) single nucleotide variant not provided [RCV002937628]|not specified [RCV004066975] Chr9:34371575 [GRCh38]
Chr9:34371573 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.538G>A (p.Asp180Asn) single nucleotide variant not provided [RCV002715353] Chr9:34372406 [GRCh38]
Chr9:34372404 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.96C>G (p.Ala32=) single nucleotide variant not provided [RCV002631051] Chr9:34372848 [GRCh38]
Chr9:34372846 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1047C>A (p.His349Gln) single nucleotide variant not provided [RCV002937341]|not specified [RCV004066265] Chr9:34371897 [GRCh38]
Chr9:34371895 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1202G>C (p.Arg401Pro) single nucleotide variant not provided [RCV002647970] Chr9:34371742 [GRCh38]
Chr9:34371740 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1608C>T (p.Pro536=) single nucleotide variant not provided [RCV002715273] Chr9:34371336 [GRCh38]
Chr9:34371334 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1972G>A (p.Asp658Asn) single nucleotide variant not provided [RCV002938287] Chr9:34370972 [GRCh38]
Chr9:34370970 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2121C>A (p.Ile707=) single nucleotide variant not provided [RCV002922862] Chr9:34370823 [GRCh38]
Chr9:34370821 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.414C>T (p.Ala138=) single nucleotide variant not provided [RCV002654217] Chr9:34372530 [GRCh38]
Chr9:34372528 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.19G>C (p.Glu7Gln) single nucleotide variant not provided [RCV002725492] Chr9:34372925 [GRCh38]
Chr9:34372923 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1584C>T (p.Asp528=) single nucleotide variant not provided [RCV002608996] Chr9:34371360 [GRCh38]
Chr9:34371358 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.97G>A (p.Ala33Thr) single nucleotide variant not specified [RCV004274399] Chr9:34372847 [GRCh38]
Chr9:34372845 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1714G>C (p.Glu572Gln) single nucleotide variant not specified [RCV004276294] Chr9:34371230 [GRCh38]
Chr9:34371228 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1073C>A (p.Pro358His) single nucleotide variant not specified [RCV004275642] Chr9:34371871 [GRCh38]
Chr9:34371869 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.503C>T (p.Pro168Leu) single nucleotide variant not specified [RCV004259586] Chr9:34372441 [GRCh38]
Chr9:34372439 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2035G>T (p.Ala679Ser) single nucleotide variant not specified [RCV004325827] Chr9:34370909 [GRCh38]
Chr9:34370907 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2036C>T (p.Ala679Val) single nucleotide variant not specified [RCV004325828] Chr9:34370908 [GRCh38]
Chr9:34370906 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.300C>G (p.Phe100Leu) single nucleotide variant not specified [RCV004361233] Chr9:34372644 [GRCh38]
Chr9:34372642 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1124A>G (p.Asp375Gly) single nucleotide variant not specified [RCV004343897] Chr9:34371820 [GRCh38]
Chr9:34371818 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1142G>A (p.Arg381His) single nucleotide variant not specified [RCV004359564] Chr9:34371802 [GRCh38]
Chr9:34371800 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.928C>T (p.Pro310Ser) single nucleotide variant MYORG-related disorder [RCV003981010]|not provided [RCV003571400] Chr9:34372016 [GRCh38]
Chr9:34372014 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1698_1699delinsAAT (p.Asp567fs) indel MYORG-related disorder [RCV003418905] Chr9:34371245..34371246 [GRCh38]
Chr9:34371243..34371244 [GRCh37]
Chr9:9p13.3
likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_020702.5(MYORG):c.2034C>G (p.Pro678=) single nucleotide variant not provided [RCV003425651] Chr9:34370910 [GRCh38]
Chr9:34370908 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.504G>A (p.Pro168=) single nucleotide variant not provided [RCV003435758] Chr9:34372440 [GRCh38]
Chr9:34372438 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1281C>G (p.Asn427Lys) single nucleotide variant not provided [RCV003435757] Chr9:34371663 [GRCh38]
Chr9:34371661 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.609del (p.Gln203fs) deletion not provided [RCV003425652] Chr9:34372335 [GRCh38]
Chr9:34372333 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.265dup (p.Arg89fs) duplication not provided [RCV003545105] Chr9:34372678..34372679 [GRCh38]
Chr9:34372676..34372677 [GRCh37]
Chr9:9p13.3
pathogenic
NM_020702.5(MYORG):c.1011C>T (p.Ala337=) single nucleotide variant not provided [RCV003688103] Chr9:34371933 [GRCh38]
Chr9:34371931 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.535_536insC (p.Gly179fs) insertion not provided [RCV003825212] Chr9:34372408..34372409 [GRCh38]
Chr9:34372406..34372407 [GRCh37]
Chr9:9p13.3
pathogenic
NM_020702.5(MYORG):c.1518C>T (p.Gly506=) single nucleotide variant not provided [RCV003724337] Chr9:34371426 [GRCh38]
Chr9:34371424 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.225G>C (p.Trp75Cys) single nucleotide variant not provided [RCV003568191] Chr9:34372719 [GRCh38]
Chr9:34372717 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1197G>C (p.Ser399=) single nucleotide variant not provided [RCV003552728] Chr9:34371747 [GRCh38]
Chr9:34371745 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1509G>C (p.Val503=) single nucleotide variant MYORG-related disorder [RCV003939328] Chr9:34371435 [GRCh38]
Chr9:34371433 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.654C>T (p.Asp218=) single nucleotide variant not provided [RCV003683715] Chr9:34372290 [GRCh38]
Chr9:34372288 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.513C>T (p.Ala171=) single nucleotide variant MYORG-related disorder [RCV003967331] Chr9:34372431 [GRCh38]
Chr9:34372429 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.453G>T (p.Arg151=) single nucleotide variant MYORG-related disorder [RCV003956971] Chr9:34372491 [GRCh38]
Chr9:34372489 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.319G>A (p.Gly107Arg) single nucleotide variant Basal ganglia calcification, idiopathic, 7, autosomal recessive [RCV003990911]|not specified [RCV004654380] Chr9:34372625 [GRCh38]
Chr9:34372623 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.756G>C (p.Thr252=) single nucleotide variant MYORG-related disorder [RCV003949643] Chr9:34372188 [GRCh38]
Chr9:34372186 [GRCh37]
Chr9:9p13.3
likely benign
NM_020702.5(MYORG):c.1698_1699del (p.Asp567fs) deletion MYORG-related disorder [RCV003952122] Chr9:34371245..34371246 [GRCh38]
Chr9:34371243..34371244 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.1076C>T (p.Ala359Val) single nucleotide variant not specified [RCV004464943] Chr9:34371868 [GRCh38]
Chr9:34371866 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1144G>A (p.Asp382Asn) single nucleotide variant not specified [RCV004464961] Chr9:34371800 [GRCh38]
Chr9:34371798 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1151G>C (p.Gly384Ala) single nucleotide variant not specified [RCV004464966] Chr9:34371793 [GRCh38]
Chr9:34371791 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.188T>G (p.Leu63Arg) single nucleotide variant not specified [RCV004465006] Chr9:34372756 [GRCh38]
Chr9:34372754 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2033C>T (p.Pro678Leu) single nucleotide variant not specified [RCV004465015] Chr9:34370911 [GRCh38]
Chr9:34370909 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.628G>T (p.Val210Phe) single nucleotide variant not specified [RCV004465043] Chr9:34372316 [GRCh38]
Chr9:34372314 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1849C>A (p.Pro617Thr) single nucleotide variant not specified [RCV004464995] Chr9:34371095 [GRCh38]
Chr9:34371093 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2122G>T (p.Ala708Ser) single nucleotide variant not specified [RCV004465026] Chr9:34370822 [GRCh38]
Chr9:34370820 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.179C>T (p.Ser60Phe) single nucleotide variant not specified [RCV004464987] Chr9:34372765 [GRCh38]
Chr9:34372763 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.70C>T (p.Arg24Cys) single nucleotide variant not specified [RCV004465049] Chr9:34372874 [GRCh38]
Chr9:34372872 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1562G>A (p.Arg521His) single nucleotide variant not specified [RCV004464981] Chr9:34371382 [GRCh38]
Chr9:34371380 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1826C>T (p.Ala609Val) single nucleotide variant not specified [RCV004464992] Chr9:34371118 [GRCh38]
Chr9:34371116 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.727G>C (p.Val243Leu) single nucleotide variant not specified [RCV004465053] Chr9:34372217 [GRCh38]
Chr9:34372215 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2019_2023del (p.Asp674fs) deletion not provided [RCV004546399] Chr9:34370921..34370925 [GRCh38]
Chr9:34370919..34370923 [GRCh37]
Chr9:9p13.3
likely pathogenic
NM_020702.5(MYORG):c.1373C>G (p.Ala458Gly) single nucleotide variant not specified [RCV004464972] Chr9:34371571 [GRCh38]
Chr9:34371569 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1526C>T (p.Ser509Leu) single nucleotide variant not specified [RCV004464978] Chr9:34371418 [GRCh38]
Chr9:34371416 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1822G>T (p.Ala608Ser) single nucleotide variant not specified [RCV004464990] Chr9:34371122 [GRCh38]
Chr9:34371120 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2137G>T (p.Ala713Ser) single nucleotide variant not specified [RCV004465029] Chr9:34370807 [GRCh38]
Chr9:34370805 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.503C>A (p.Pro168Gln) single nucleotide variant not specified [RCV004465032] Chr9:34372441 [GRCh38]
Chr9:34372439 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.2031G>C (p.Leu677Phe) single nucleotide variant not specified [RCV004465011] Chr9:34370913 [GRCh38]
Chr9:34370911 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_33436037)_(37436779_?)del deletion Spastic paraplegia [RCV004581844] Chr9:33436037..37436779 [GRCh37]
Chr9:9p13.3-13.2
pathogenic
NC_000009.11:g.(?_32453279)_(36276941_?)dup duplication not provided [RCV004582073] Chr9:32453279..36276941 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NM_020702.5(MYORG):c.658G>C (p.Ala220Pro) single nucleotide variant not specified [RCV004652099] Chr9:34372286 [GRCh38]
Chr9:34372284 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1673C>T (p.Ala558Val) single nucleotide variant not specified [RCV004652100] Chr9:34371271 [GRCh38]
Chr9:34371269 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1178C>G (p.Pro393Arg) single nucleotide variant not specified [RCV004652101] Chr9:34371766 [GRCh38]
Chr9:34371764 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1727G>A (p.Arg576His) single nucleotide variant not provided [RCV004575084] Chr9:34371217 [GRCh38]
Chr9:34371215 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.991G>C (p.Asp331His) single nucleotide variant not specified [RCV004652102] Chr9:34371953 [GRCh38]
Chr9:34371951 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.619C>G (p.Gln207Glu) single nucleotide variant not specified [RCV004652103] Chr9:34372325 [GRCh38]
Chr9:34372323 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_020702.5(MYORG):c.1940C>T (p.Ala647Val) single nucleotide variant not specified [RCV004652104] Chr9:34371004 [GRCh38]
Chr9:34371002 [GRCh37]
Chr9:9p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2241
Count of miRNA genes:1040
Interacting mature miRNAs:1283
Transcripts:ENST00000297625, ENST00000379142
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407251557GWAS900533_Hdiabetic retinopathy QTL GWAS900533 (human)0.0000002diabetic retinopathy93436867634368677Human
407052992GWAS701968_Hself reported educational attainment QTL GWAS701968 (human)4e-08self reported educational attainment93437002234370023Human

Markers in Region
WI-20524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37934,369,234 - 34,369,357UniSTSGRCh37
Build 36934,359,234 - 34,359,357RGDNCBI36
Celera934,300,740 - 34,300,863RGD
Cytogenetic Map9p13.3UniSTS
HuRef934,324,323 - 34,324,446UniSTS
Whitehead-RH Map9152.6UniSTS
NCBI RH Map9420.8UniSTS
G43513  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5p14.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1944 465 2269 7298 6464 53 3734 1 851 1743 1617 174 1

Sequence


Ensembl Acc Id: ENST00000297625   ⟹   ENSP00000297625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,366,666 - 34,376,898 (-)Ensembl
Ensembl Acc Id: ENST00000379142   ⟹   ENSP00000368437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl934,372,068 - 34,372,832 (-)Ensembl
RefSeq Acc Id: NM_020702   ⟹   NP_065753
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,366,666 - 34,376,898 (-)NCBI
GRCh37934,368,907 - 34,376,894 (-)RGD
Build 36934,358,907 - 34,366,894 (-)NCBI Archive
Celera934,300,413 - 34,308,399 (-)RGD
HuRef934,323,996 - 34,331,984 (-)ENTREZGENE
CHM1_1934,366,426 - 34,376,658 (-)NCBI
T2T-CHM13v2.0934,385,154 - 34,395,388 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517966   ⟹   XP_011516268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,366,666 - 34,376,898 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014930   ⟹   XP_016870419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,366,666 - 34,376,898 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054363318   ⟹   XP_054219293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0934,387,397 - 34,395,388 (-)NCBI
RefSeq Acc Id: XM_054363319   ⟹   XP_054219294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0934,387,397 - 34,395,421 (-)NCBI
RefSeq Acc Id: NP_065753   ⟸   NM_020702
- UniProtKB: Q5T588 (UniProtKB/Swiss-Prot),   Q5T587 (UniProtKB/Swiss-Prot),   Q9ULQ9 (UniProtKB/Swiss-Prot),   Q6NSJ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011516268   ⟸   XM_011517966
- Peptide Label: isoform X1
- UniProtKB: Q5T588 (UniProtKB/Swiss-Prot),   Q5T587 (UniProtKB/Swiss-Prot),   Q9ULQ9 (UniProtKB/Swiss-Prot),   Q6NSJ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016870419   ⟸   XM_017014930
- Peptide Label: isoform X1
- UniProtKB: Q5T588 (UniProtKB/Swiss-Prot),   Q5T587 (UniProtKB/Swiss-Prot),   Q9ULQ9 (UniProtKB/Swiss-Prot),   Q6NSJ0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000297625   ⟸   ENST00000297625
Ensembl Acc Id: ENSP00000368437   ⟸   ENST00000379142
RefSeq Acc Id: XP_054219294   ⟸   XM_054363319
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219293   ⟸   XM_054363318
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6NSJ0-F1-model_v2 AlphaFold Q6NSJ0 1-714 view protein structure

Promoters
RGD ID:6807815
Promoter ID:HG_KWN:62995
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000052158,   UC003ZUE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36934,366,659 - 34,367,159 (-)MPROMDB
RGD ID:7214911
Promoter ID:EPDNEW_H13201
Type:initiation region
Name:KIAA1161_1
Description:KIAA1161
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38934,376,865 - 34,376,925EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19918 AgrOrtholog
COSMIC MYORG COSMIC
Ensembl Genes ENSG00000164976 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297625 ENTREZGENE
  ENST00000297625.8 UniProtKB/Swiss-Prot
  ENST00000379142.3 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.1180 UniProtKB/Swiss-Prot
  Glycosidases UniProtKB/Swiss-Prot
GTEx ENSG00000164976 GTEx
HGNC ID HGNC:19918 ENTREZGENE
Human Proteome Map MYORG Human Proteome Map
InterPro Alpha-glycosidase_related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_31 UniProtKB/Swiss-Prot
  Glyco_hydro_31_C UniProtKB/Swiss-Prot
  Glyco_hydro_b UniProtKB/Swiss-Prot
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot
KEGG Report hsa:57462 UniProtKB/Swiss-Prot
NCBI Gene 57462 ENTREZGENE
OMIM 618255 OMIM
PANTHER GLYCOSIDASE FAMILY 31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MYOGENESIS-REGULATING GLYCOSIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_31 UniProtKB/Swiss-Prot
  Glyco_hydro_31_3rd UniProtKB/Swiss-Prot
PharmGKB PA134929853 PharmGKB
Superfamily-SCOP Glycosyl hydrolase domain UniProtKB/Swiss-Prot
  SSF51445 UniProtKB/Swiss-Prot
UniProt MYORG_HUMAN UniProtKB/Swiss-Prot
  Q5T587 ENTREZGENE
  Q5T588 ENTREZGENE
  Q6NSJ0 ENTREZGENE
  Q9ULQ9 ENTREZGENE
  X6RA92_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5T587 UniProtKB/Swiss-Prot
  Q5T588 UniProtKB/Swiss-Prot
  Q9ULQ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-07-29 MYORG  myogenesis regulating glycosidase  MYORG  myogenesis regulating glycosidase (putative)  Symbol and/or name change 19259463 PROVISIONAL
2017-08-01 MYORG  myogenesis regulating glycosidase (putative)  KIAA1161  KIAA1161  Symbol and/or name change 5135510 APPROVED