Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MYORG | Human | Idiopathic Basal Ganglia Calcification 7 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MYORG | Human | Idiopathic Basal Ganglia Calcification 7 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
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 |
MYORG (Homo sapiens - human) |
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Myorg (Mus musculus - house mouse) |
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Myorg (Rattus norvegicus - Norway rat) |
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Myorg (Chinchilla lanigera - long-tailed chinchilla) |
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MYORG (Pan paniscus - bonobo/pygmy chimpanzee) |
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MYORG (Canis lupus familiaris - dog) |
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Myorg (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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MYORG (Sus scrofa - pig) |
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MYORG (Chlorocebus sabaeus - green monkey) |
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Myorg (Heterocephalus glaber - naked mole-rat) |
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Variants in MYORG
172 total 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 |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
WI-20524 |
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G43513 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2439 | 2788 | 2253 | 4973 | 1726 | 2351 | 6 | 624 | 1944 | 465 | 2269 | 7298 | 6464 | 53 | 3734 | 1 | 851 | 1743 | 1617 | 174 | 1 |
RefSeq Transcripts | NM_020702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_011517966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017014930 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054363318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054363319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB032987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AI066728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL356494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AMYH02019445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW008982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC070098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110493 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CB988183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000297625 ⟹ ENSP00000297625 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000379142 ⟹ ENSP00000368437 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_020702 ⟹ NP_065753 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_011517966 ⟹ XP_011516268 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017014930 ⟹ XP_016870419 | ||||||||
Type: | CODING | ||||||||
Position: |
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||||||||
Sequence: |
RefSeq Acc Id: | XM_054363318 ⟹ XP_054219293 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054363319 ⟹ XP_054219294 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_065753 | (Get FASTA) | NCBI Sequence Viewer |
XP_011516268 | (Get FASTA) | NCBI Sequence Viewer | |
XP_016870419 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054219293 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054219294 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH70098 | (Get FASTA) | NCBI Sequence Viewer |
AAI10494 | (Get FASTA) | NCBI Sequence Viewer | |
BAA86475 | (Get FASTA) | NCBI Sequence Viewer | |
EAW58460 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000297625 | ||
ENSP00000297625.8 | |||
ENSP00000368437.2 | |||
GenBank Protein | Q6NSJ0 | (Get FASTA) | NCBI Sequence Viewer |
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 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6NSJ0-F1-model_v2 | AlphaFold | Q6NSJ0 | 1-714 | view protein structure |
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: |
|
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: |
|
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 |
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 |