CASD1 (CAS1 domain containing 1) - Rat Genome Database

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Gene: CASD1 (CAS1 domain containing 1) Homo sapiens
Analyze
Symbol: CASD1
Name: CAS1 domain containing 1
RGD ID: 1603612
HGNC Page HGNC:16014
Description: Enables N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity. Involved in carbohydrate metabolic process. Located in Golgi membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C7orf12; Capsule synthesis 1; Cas1; CAS1 domain-containing protein 1; FLJ21213; FLJ21879; FLJ41901; N-acetylneuraminate 9-O-acetyltransferase; NBLA04196; O-acetyltransferase; sialate O-acetyltransferase; SOAT; WUGSC:H_GS542D18.2
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
GRCh38794,509,809 - 94,634,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl794,509,219 - 94,557,019 (+)EnsemblGRCh38hg38GRCh38
GRCh37794,139,121 - 94,186,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36793,977,120 - 94,024,216 (+)NCBINCBI36Build 36hg18NCBI36
Celera788,837,411 - 88,884,573 (+)NCBICelera
Cytogenetic Map7q21.3NCBI
HuRef788,746,553 - 88,793,707 (+)NCBIHuRef
CHM1_1794,069,254 - 94,116,405 (+)NCBICHM1_1
T2T-CHM13v2.0795,745,768 - 95,875,261 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2793,468,325 - 93,515,486 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
Golgi apparatus  (IEA)
Golgi membrane  (IBA,IDA,IEA)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11528394   PMID:11703667   PMID:12477932   PMID:14702039   PMID:19322201   PMID:20947662   PMID:21873635   PMID:26169044   PMID:31903119   PMID:33961781  


Genomics

Comparative Map Data
CASD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38794,509,809 - 94,634,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl794,509,219 - 94,557,019 (+)EnsemblGRCh38hg38GRCh38
GRCh37794,139,121 - 94,186,331 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36793,977,120 - 94,024,216 (+)NCBINCBI36Build 36hg18NCBI36
Celera788,837,411 - 88,884,573 (+)NCBICelera
Cytogenetic Map7q21.3NCBI
HuRef788,746,553 - 88,793,707 (+)NCBIHuRef
CHM1_1794,069,254 - 94,116,405 (+)NCBICHM1_1
T2T-CHM13v2.0795,745,768 - 95,875,261 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2793,468,325 - 93,515,486 (+)NCBI
Casd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3964,600,911 - 4,643,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl64,600,839 - 4,643,355 (+)EnsemblGRCm39 Ensembl
GRCm3864,600,911 - 4,643,355 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl64,600,839 - 4,643,355 (+)EnsemblGRCm38mm10GRCm38
MGSCv3764,551,066 - 4,593,381 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3664,551,066 - 4,593,381 (+)NCBIMGSCv36mm8
Celera64,751,503 - 4,786,857 (+)NCBICelera
Cytogenetic Map6A1NCBI
cM Map61.81NCBI
Casd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8433,613,805 - 33,705,821 (+)NCBIGRCr8
mRatBN7.2432,659,196 - 32,739,228 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl432,658,748 - 32,739,202 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx437,645,725 - 37,702,070 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0433,571,845 - 33,628,190 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0431,942,159 - 32,034,177 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0429,638,280 - 29,693,151 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl429,639,154 - 29,691,928 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0429,551,430 - 29,603,711 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera428,238,919 - 28,269,259 (+)NCBICelera
Cytogenetic Map4q21NCBI
Casd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543211,236,401 - 11,277,537 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543211,236,403 - 11,277,462 (+)NCBIChiLan1.0ChiLan1.0
CASD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26112,347,178 - 112,425,497 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17160,611,827 - 160,690,136 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0786,459,449 - 86,520,559 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17100,057,472 - 100,096,892 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7100,053,248 - 100,096,887 (+)Ensemblpanpan1.1panPan2
CASD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11419,975,393 - 20,026,705 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1419,977,088 - 20,025,712 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1419,537,075 - 19,586,035 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01419,793,148 - 19,842,140 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1419,793,074 - 19,842,928 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11419,944,849 - 19,993,882 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01419,679,946 - 19,728,909 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01419,937,265 - 19,986,245 (+)NCBIUU_Cfam_GSD_1.0
Casd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511833,279,257 - 33,315,135 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365855,547,596 - 5,590,546 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365855,549,161 - 5,584,181 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CASD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl974,276,908 - 74,347,588 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1974,276,533 - 74,347,608 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2981,454,473 - 81,549,776 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CASD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12154,483,449 - 54,532,507 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2154,482,713 - 54,531,319 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604249,790,616 - 49,839,546 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Casd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248131,280,943 - 1,326,104 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248131,281,253 - 1,325,995 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CASD1
489 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003919.3(SGCE):c.823T>C (p.Leu275=) single nucleotide variant Myoclonic dystonia 11 [RCV001458150] Chr7:94603292 [GRCh38]
Chr7:94232604 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.618C>T (p.Asp206=) single nucleotide variant Myoclonic dystonia 11 [RCV001465944] Chr7:94618802 [GRCh38]
Chr7:94248114 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.825+1_825+2del deletion Myoclonic dystonia 11 [RCV000547605] Chr7:94603288..94603289 [GRCh38]
Chr7:94232600..94232601 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NC_000007.14:g.(?_94598775)_(94603452_?)del deletion Myoclonic dystonia 11 [RCV000548121] Chr7:94598775..94603452 [GRCh38]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.470del (p.Pro157fs) deletion Myoclonic dystonia 11 [RCV000530968] Chr7:94618950 [GRCh38]
Chr7:94248262 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000987929]|not provided [RCV000517153] Chr7:94623386 [GRCh38]
Chr7:94252698 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.279T>C (p.Gly93=) single nucleotide variant Myoclonic dystonia 11 [RCV001465283] Chr7:94628313 [GRCh38]
Chr7:94257625 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.300del (p.Trp100fs) deletion Myoclonic dystonia 11 [RCV000639685] Chr7:94628292 [GRCh38]
Chr7:94257604 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1254-9_1254-7del microsatellite Myoclonic dystonia 11 [RCV000550790]|SGCE-related condition [RCV003962436]|not provided [RCV001644616]|not specified [RCV000517989] Chr7:94588739..94588741 [GRCh38]
Chr7:94218051..94218053 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.826-2A>G single nucleotide variant Inborn genetic diseases [RCV002525081]|Myoclonic dystonia 11 [RCV003615845]|not provided [RCV000518111] Chr7:94600859 [GRCh38]
Chr7:94230171 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_003919.3(SGCE):c.1060C>T (p.Pro354Ser) single nucleotide variant Myoclonic dystonia 11 [RCV000551586] Chr7:94599701 [GRCh38]
Chr7:94229013 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1065-3T>C single nucleotide variant Myoclonic dystonia 11 [RCV000525598] Chr7:94598966 [GRCh38]
Chr7:94228278 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3(chr7:94373041-94510143)x3 copy number gain See cases [RCV000053497] Chr7:94373041..94510143 [GRCh38]
Chr7:94002353..94139455 [GRCh37]
Chr7:93840289..93977391 [NCBI36]
Chr7:7q21.3		 uncertain significance
NM_022900.4(CASD1):c.396+34A>G single nucleotide variant Lung cancer [RCV000106679] Chr7:94527240 [GRCh38]
Chr7:94156552 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.4(CASD1):c.397-157T>G single nucleotide variant Lung cancer [RCV000106680] Chr7:94528031 [GRCh38]
Chr7:94157343 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.391-3T>C single nucleotide variant Myoclonic dystonia 11 [RCV000394405]|not provided [RCV000992966]|not specified [RCV000178203] Chr7:94623400 [GRCh38]
Chr7:94252712 [GRCh37]
Chr7:7q21.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) deletion Myoclonic dystonia 11 [RCV000179425]|not provided [RCV000517215] Chr7:94603343..94603344 [GRCh38]
Chr7:94232655..94232656 [GRCh37]
Chr7:7q21.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.2-21.3(chr7:92945146-94512098)x1 copy number loss See cases [RCV000137564] Chr7:92945146..94512098 [GRCh38]
Chr7:92574460..94141410 [GRCh37]
Chr7:92412396..93979346 [NCBI36]
Chr7:7q21.2-21.3		 likely pathogenic
GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1 copy number loss See cases [RCV000141756] Chr7:92759144..97568646 [GRCh38]
Chr7:92388458..97197958 [GRCh37]
Chr7:92226394..97035894 [NCBI36]
Chr7:7q21.2-21.3		 pathogenic
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3		 pathogenic
NM_003919.3(SGCE):c.606A>G (p.Thr202=) single nucleotide variant Myoclonic dystonia 11 [RCV000289832]|not provided [RCV000723665]|not specified [RCV000080355] Chr7:94618814 [GRCh38]
Chr7:94248126 [GRCh37]
Chr7:7q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.709C>T (p.Arg237Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000549530]|not provided [RCV000080356] Chr7:94603406 [GRCh38]
Chr7:94232718 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.617A>G (p.Asp206Gly) single nucleotide variant Myoclonic dystonia 11 [RCV003137665]|not provided [RCV000153941] Chr7:94618803 [GRCh38]
Chr7:94248115 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter) single nucleotide variant Inborn genetic diseases [RCV001267609]|Myoclonic dystonia 11 [RCV000006124]|not provided [RCV000713248] Chr7:94628303 [GRCh38]
Chr7:94257615 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.304C>T (p.Arg102Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000006125]|not provided [RCV000713249] Chr7:94628288 [GRCh38]
Chr7:94257600 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.587T>G (p.Leu196Arg) single nucleotide variant Myoclonic dystonia 11 [RCV000006129] Chr7:94618833 [GRCh38]
Chr7:94248145 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1114C>T (p.Arg372Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000006132]|not provided [RCV003311652] Chr7:94598914 [GRCh38]
Chr7:94228226 [GRCh37]
Chr7:7q21.3		 pathogenic
NC_000007.14:g.94561799G>T single nucleotide variant Lung cancer [RCV000106681] Chr7:94561799 [GRCh38]
Chr7:94191111 [GRCh37]
Chr7:7q21.3		 uncertain significance
NC_000007.14:g.94581854A>G single nucleotide variant Lung cancer [RCV000106682] Chr7:94581854 [GRCh38]
Chr7:94211166 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.2(SGCE):c.1297+1456C>G single nucleotide variant Lung cancer [RCV000106683] Chr7:94587233 [GRCh38]
Chr7:94216545 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.884dup (p.Leu295fs) duplication Myoclonic dystonia 11 [RCV000006130] Chr7:94600798..94600799 [GRCh38]
Chr7:94230110..94230111 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.619_620del (p.Arg207fs) deletion Myoclonic dystonia 11 [RCV000006135] Chr7:94618800..94618801 [GRCh38]
Chr7:94248112..94248113 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.835_839del (p.Thr279fs) deletion Myoclonic dystonia 11 [RCV000006128]|not provided [RCV000516364] Chr7:94600844..94600848 [GRCh38]
Chr7:94230156..94230160 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.2(SGCE):c.464_662del deletion Myoclonic dystonia 11 [RCV000006133] Chr7:94604254..94619273 [GRCh38]
Chr7:94233566..94248585 [GRCh37]
Chr7:7q21		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:94156496-94285902)x3 copy number gain Breast ductal adenocarcinoma [RCV000207191] Chr7:94156496..94285902 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+812G>A single nucleotide variant not provided [RCV000224638] Chr7:94597963 [GRCh38]
Chr7:94227275 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.619del (p.Arg207fs) deletion Myoclonic dystonia 11 [RCV000534756]|not provided [RCV000516288] Chr7:94618801 [GRCh38]
Chr7:94248113 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.*101A>G single nucleotide variant Myoclonic dystonia 11 [RCV000278351] Chr7:94585398 [GRCh38]
Chr7:94214710 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.193G>T (p.Glu65Ter) single nucleotide variant not provided [RCV000487622] Chr7:94629758 [GRCh38]
Chr7:94259070 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.369G>C (p.Val123=) single nucleotide variant Myoclonic dystonia 11 [RCV000538722]|not provided [RCV002244612]|not specified [RCV000251390] Chr7:94628223 [GRCh38]
Chr7:94257535 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.1072C>T (p.Leu358=) single nucleotide variant Myoclonic dystonia 11 [RCV000540319]|not specified [RCV000247042] Chr7:94598956 [GRCh38]
Chr7:94228268 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.1210_1213del (p.Asp404fs) deletion Myoclonic dystonia 11 [RCV001782755]|not provided [RCV000255982] Chr7:94598815..94598818 [GRCh38]
Chr7:94228127..94228130 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.386T>A (p.Ile129Asn) single nucleotide variant not provided [RCV003482272] Chr7:94628206 [GRCh38]
Chr7:94257518 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.391-43A>C single nucleotide variant Myoclonic dystonia 11 [RCV000576770]|not provided [RCV001722318]|not specified [RCV000248321] Chr7:94623440 [GRCh38]
Chr7:94252752 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.556G>A (p.Ala186Thr) single nucleotide variant Inborn genetic diseases [RCV003168564]|Myoclonic dystonia 11 [RCV000347102] Chr7:94618864 [GRCh38]
Chr7:94248176 [GRCh37]
Chr7:7q21.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.738G>A (p.Leu246=) single nucleotide variant Myoclonic dystonia 11 [RCV000348368] Chr7:94603377 [GRCh38]
Chr7:94232689 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.*172T>C single nucleotide variant Myoclonic dystonia 11 [RCV000375358] Chr7:94585327 [GRCh38]
Chr7:94214639 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.510T>C (p.Asn170=) single nucleotide variant Myoclonic dystonia 11 [RCV000307704]|not provided [RCV000998851] Chr7:94618910 [GRCh38]
Chr7:94248222 [GRCh37]
Chr7:7q21.3		 benign|likely benign|uncertain significance
NM_003919.3(SGCE):c.1025G>A (p.Arg342Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000388028] Chr7:94600658 [GRCh38]
Chr7:94229970 [GRCh37]
Chr7:7q21.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.712G>C (p.Glu238Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000406322] Chr7:94603403 [GRCh38]
Chr7:94232715 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.975G>A (p.Ser325=) single nucleotide variant Myoclonic dystonia 11 [RCV000296045] Chr7:94600708 [GRCh38]
Chr7:94230020 [GRCh37]
Chr7:7q21.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) single nucleotide variant Myoclonic dystonia 11 [RCV001083911]|SGCE-related condition [RCV003977788]|not provided [RCV000337420] Chr7:94623352 [GRCh38]
Chr7:94252664 [GRCh37]
Chr7:7q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.769A>C (p.Thr257Pro) single nucleotide variant Myoclonic dystonia 11 [RCV000548739]|not provided [RCV002225575]|not specified [RCV000374950] Chr7:94603346 [GRCh38]
Chr7:94232658 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.299G>A (p.Trp100Ter) single nucleotide variant not provided [RCV000377235] Chr7:94628293 [GRCh38]
Chr7:94257605 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1144T>C (p.Trp382Arg) single nucleotide variant not provided [RCV000292911] Chr7:94598884 [GRCh38]
Chr7:94228196 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1134A>C (p.Arg378Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001855186]|not provided [RCV000406946] Chr7:94598894 [GRCh38]
Chr7:94228206 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.715_719dup (p.Asn241fs) duplication not provided [RCV000585114] Chr7:94603395..94603396 [GRCh38]
Chr7:94232707..94232708 [GRCh37]
Chr7:7q21.3		 likely pathogenic
GRCh37/hg19 7q21.3(chr7:94129826-94844077)x1 copy number loss not provided [RCV000487993] Chr7:94129826..94844077 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.826-82del deletion not provided [RCV001567231] Chr7:94600939 [GRCh38]
Chr7:94230251 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1065C>T (p.Asp355=) single nucleotide variant Myoclonic dystonia 11 [RCV000317085] Chr7:94598963 [GRCh38]
Chr7:94228275 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.536T>C (p.Val179Ala) single nucleotide variant Myoclonic dystonia 11 [RCV000404442] Chr7:94618884 [GRCh38]
Chr7:94248196 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.409C>T (p.Arg137Cys) single nucleotide variant Myoclonic dystonia 11 [RCV000532073] Chr7:94623379 [GRCh38]
Chr7:94252691 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.290G>A (p.Arg97Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000554543] Chr7:94628302 [GRCh38]
Chr7:94257614 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.450_452del (p.Ile150del) deletion Myoclonic dystonia 11 [RCV000359972] Chr7:94623336..94623338 [GRCh38]
Chr7:94252648..94252650 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.549_552del (p.Phe183fs) deletion Myoclonic dystonia 11 [RCV000578388]|not provided [RCV001268180] Chr7:94618868..94618871 [GRCh38]
Chr7:94248180..94248183 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.377C>T (p.Pro126Leu) single nucleotide variant not provided [RCV000596753] Chr7:94628215 [GRCh38]
Chr7:94257527 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1196C>T (p.Pro399Leu) single nucleotide variant Myoclonic dystonia 11 [RCV000639693] Chr7:94598832 [GRCh38]
Chr7:94228144 [GRCh37]
Chr7:7q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.1115G>A (p.Arg372Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000639696] Chr7:94598913 [GRCh38]
Chr7:94228225 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1158G>A (p.Thr386=) single nucleotide variant Myoclonic dystonia 11 [RCV000639697] Chr7:94598870 [GRCh38]
Chr7:94228182 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.960A>C (p.Thr320=) single nucleotide variant Myoclonic dystonia 11 [RCV001426975] Chr7:94600723 [GRCh38]
Chr7:94230035 [GRCh37]
Chr7:7q21.3		 likely benign
NC_000007.14:g.(?_94395012)_(94656118_?)del deletion Myoclonic dystonia 11 [RCV000639702] Chr7:94395012..94656118 [GRCh38]
Chr7:94024324..94285430 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.905A>T (p.Lys302Ile) single nucleotide variant Inborn genetic diseases [RCV004025586]|Myoclonic dystonia 11 [RCV000639684] Chr7:94600778 [GRCh38]
Chr7:94230090 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.727C>T (p.Gln243Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000639690] Chr7:94603388 [GRCh38]
Chr7:94232700 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer) deletion Myoclonic dystonia 11 [RCV000639692] Chr7:94618861 [GRCh38]
Chr7:94248173 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1254-10T>C single nucleotide variant Myoclonic dystonia 11 [RCV000639698]|SGCE-related condition [RCV003928080]|not provided [RCV001672909] Chr7:94588742 [GRCh38]
Chr7:94218054 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) single nucleotide variant Inborn genetic diseases [RCV003362776]|Myoclonic dystonia 11 [RCV000689645]|not provided [RCV000416039]|not specified [RCV002469145] Chr7:94623397 [GRCh38]
Chr7:94252709 [GRCh37]
Chr7:7q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.667del (p.Tyr223fs) deletion Myoclonic dystonia 11 [RCV003319986]|not provided [RCV000416161] Chr7:94603448 [GRCh38]
Chr7:94232760 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.232+1G>T single nucleotide variant Myoclonic dystonia 11 [RCV002523920]|not provided [RCV000412835] Chr7:94629718 [GRCh38]
Chr7:94259030 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.348del (p.Ser117fs) deletion not provided [RCV000413121] Chr7:94628244 [GRCh38]
Chr7:94257556 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1310C>T (p.Pro437Leu) single nucleotide variant Myoclonic dystonia 11 [RCV003505108]|not specified [RCV000413165] Chr7:94585503 [GRCh38]
Chr7:94214815 [GRCh37]
Chr7:7q21.3		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
NM_003919.3(SGCE):c.783dup (p.Phe262fs) duplication Myoclonic dystonia 11 [RCV000449540] Chr7:94603331..94603332 [GRCh38]
Chr7:94232643..94232644 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.663del (p.Val222fs) deletion Myoclonic dystonia 11 [RCV001861988]|not provided [RCV000713251] Chr7:94603452 [GRCh38]
Chr7:94232764 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.711del (p.Glu238fs) deletion not provided [RCV000713253] Chr7:94603404 [GRCh38]
Chr7:94232716 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.663-9dup duplication Myoclonic dystonia 11 [RCV000863854]|not specified [RCV000483547] Chr7:94603456..94603457 [GRCh38]
Chr7:94232768..94232769 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro) single nucleotide variant Myoclonic dystonia 11 [RCV000639695]|not provided [RCV000713250] Chr7:94618869 [GRCh38]
Chr7:94248181 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.766dup (p.Ile256fs) duplication not provided [RCV000480064] Chr7:94603348..94603349 [GRCh38]
Chr7:94232660..94232661 [GRCh37]
Chr7:7q21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_003919.3(SGCE):c.392T>C (p.Ile131Thr) single nucleotide variant not provided [RCV000498379] Chr7:94623396 [GRCh38]
Chr7:94252708 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_003919.3(SGCE):c.692del (p.Pro231fs) deletion not provided [RCV000713252] Chr7:94603423 [GRCh38]
Chr7:94232735 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.880dup (p.Ile294fs) duplication Myoclonic dystonia 11 [RCV003615855]|not provided [RCV000713255] Chr7:94600802..94600803 [GRCh38]
Chr7:94230114..94230115 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1253+811A>C single nucleotide variant Myoclonic dystonia 11 [RCV000576563]|not specified [RCV001700224] Chr7:94597964 [GRCh38]
Chr7:94227276 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.470C>T (p.Pro157Leu) single nucleotide variant Myoclonic dystonia 11 [RCV000557233] Chr7:94618950 [GRCh38]
Chr7:94248262 [GRCh37]
Chr7:7q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.1297+886G>A single nucleotide variant not provided [RCV000585545] Chr7:94587803 [GRCh38]
Chr7:94217115 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1036G>A (p.Val346Met) single nucleotide variant Inborn genetic diseases [RCV003159809]|Myoclonic dystonia 11 [RCV000536841] Chr7:94600647 [GRCh38]
Chr7:94229959 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.783del (p.Lys261fs) deletion not provided [RCV003312687] Chr7:94603332 [GRCh38]
Chr7:94232644 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.947A>T (p.Asp316Val) single nucleotide variant Inborn genetic diseases [RCV003242565] Chr7:94600736 [GRCh38]
Chr7:94230048 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1 copy number loss Split hand-foot malformation 1 [RCV000656540] Chr7:92445452..99686985 [GRCh37]
Chr7:7q21.2-22.1		 pathogenic
NM_003919.3(SGCE):c.232+4del deletion Myoclonic dystonia 11 [RCV000639687] Chr7:94629715 [GRCh38]
Chr7:94259027 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.232+4T>C single nucleotide variant Myoclonic dystonia 11 [RCV000639689] Chr7:94629715 [GRCh38]
Chr7:94259027 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1038-9T>G single nucleotide variant Myoclonic dystonia 11 [RCV000639700] Chr7:94599732 [GRCh38]
Chr7:94229044 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.670G>C (p.Val224Leu) single nucleotide variant Myoclonic dystonia 11 [RCV000639683] Chr7:94603445 [GRCh38]
Chr7:94232757 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.550C>T (p.Leu184Phe) single nucleotide variant Myoclonic dystonia 11 [RCV000639688] Chr7:94618870 [GRCh38]
Chr7:94248182 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.724C>T (p.Pro242Ser) single nucleotide variant Myoclonic dystonia 11 [RCV000533688] Chr7:94603391 [GRCh38]
Chr7:94232703 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.232+5G>A single nucleotide variant Myoclonic dystonia 11 [RCV000539526] Chr7:94629714 [GRCh38]
Chr7:94259026 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.733C>T (p.Gln245Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000639686] Chr7:94603382 [GRCh38]
Chr7:94232694 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.795del (p.Gln265fs) deletion Myoclonic dystonia 11 [RCV000639691] Chr7:94603320 [GRCh38]
Chr7:94232632 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.707T>G (p.Leu236Ter) single nucleotide variant not provided [RCV000512991] Chr7:94603408 [GRCh38]
Chr7:94232720 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.232+1G>A single nucleotide variant not provided [RCV000713247] Chr7:94629718 [GRCh38]
Chr7:94259030 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.506T>C (p.Met169Thr) single nucleotide variant Myoclonic dystonia 11 [RCV000699116] Chr7:94618914 [GRCh38]
Chr7:94248226 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1 copy number loss not provided [RCV000682901] Chr7:93285237..96280817 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.298T>C (p.Trp100Arg) single nucleotide variant Myoclonic dystonia 11 [RCV001808013] Chr7:94628294 [GRCh38]
Chr7:94257606 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1247C>T (p.Thr416Met) single nucleotide variant Inborn genetic diseases [RCV004026571]|Myoclonic dystonia 11 [RCV000701860]|not provided [RCV000762463] Chr7:94598781 [GRCh38]
Chr7:94228093 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1054C>A (p.Gln352Lys) single nucleotide variant Myoclonic dystonia 11 [RCV000685201] Chr7:94599707 [GRCh38]
Chr7:94229019 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.856C>G (p.Gln286Glu) single nucleotide variant Myoclonic dystonia 11 [RCV000702282] Chr7:94600827 [GRCh38]
Chr7:94230139 [GRCh37]
Chr7:7q21.3		 uncertain significance
NC_000007.14:g.(?_94628182)_(94628379_?)del deletion Myoclonic dystonia 11 [RCV000707971] Chr7:94628182..94628379 [GRCh38]
Chr7:94257494..94257691 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1177G>A (p.Val393Met) single nucleotide variant Myoclonic dystonia 11 [RCV000706475] Chr7:94598851 [GRCh38]
Chr7:94228163 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+811_1253+812delinsCA indel not provided [RCV000713244] Chr7:94597963..94597964 [GRCh38]
Chr7:94227275..94227276 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.838A>T (p.Lys280Ter) single nucleotide variant not provided [RCV000713254] Chr7:94600845 [GRCh38]
Chr7:94230157 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.787C>T (p.Arg263Cys) single nucleotide variant Inborn genetic diseases [RCV004025115]|Myoclonic dystonia 11 [RCV000692343] Chr7:94603328 [GRCh38]
Chr7:94232640 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.961C>A (p.Leu321Met) single nucleotide variant Myoclonic dystonia 11 [RCV000707357] Chr7:94600722 [GRCh38]
Chr7:94230034 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1238T>C (p.Leu413Ser) single nucleotide variant Myoclonic dystonia 11 [RCV000693691] Chr7:94598790 [GRCh38]
Chr7:94228102 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.841C>T (p.Gln281Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000698026] Chr7:94600842 [GRCh38]
Chr7:94230154 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1253+814G>A single nucleotide variant Myoclonic dystonia 11 [RCV001515206]|not provided [RCV000713245] Chr7:94597961 [GRCh38]
Chr7:94227273 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.1285C>G (p.Gln429Glu) single nucleotide variant Myoclonic dystonia 11 [RCV000705683] Chr7:94588701 [GRCh38]
Chr7:94218013 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1028G>A (p.Arg343Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000696767] Chr7:94600655 [GRCh38]
Chr7:94229967 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.663-315_663-312del deletion not provided [RCV001567089] Chr7:94603764..94603767 [GRCh38]
Chr7:94233076..94233079 [GRCh37]
Chr7:7q21.3		 likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:93700162-96950914)x1 copy number loss not provided [RCV000746898] Chr7:93700162..96950914 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.463+266T>C single nucleotide variant not provided [RCV001648155] Chr7:94623059 [GRCh38]
Chr7:94252371 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.232+134G>A single nucleotide variant not provided [RCV001609931] Chr7:94629585 [GRCh38]
Chr7:94258897 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.456T>C (p.Ser152=) single nucleotide variant not provided [RCV000917384] Chr7:94623332 [GRCh38]
Chr7:94252644 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.390+243C>T single nucleotide variant not provided [RCV001535333] Chr7:94627959 [GRCh38]
Chr7:94257271 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup) duplication Myoclonic dystonia 11 [RCV000761353] Chr7:94623345..94623346 [GRCh38]
Chr7:94252657..94252658 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.825+3_825+6del deletion not provided [RCV000762464] Chr7:94603284..94603287 [GRCh38]
Chr7:94232596..94232599 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.810G>A (p.Trp270Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000799864]|not provided [RCV000762465] Chr7:94603305 [GRCh38]
Chr7:94232617 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.277G>T (p.Gly93Cys) single nucleotide variant not provided [RCV000762466] Chr7:94628315 [GRCh38]
Chr7:94257627 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.233-2del deletion not provided [RCV000762467] Chr7:94628361 [GRCh38]
Chr7:94257673 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.148G>A (p.Val50Ile) single nucleotide variant Myoclonic dystonia 11 [RCV002536588]|not provided [RCV000762468] Chr7:94629803 [GRCh38]
Chr7:94259115 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.786del (p.Arg263fs) deletion Myoclonic dystonia 11 [RCV001004097] Chr7:94603329 [GRCh38]
Chr7:94232641 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.328A>G (p.Ser110Gly) single nucleotide variant Myoclonic dystonia 11 [RCV001053881] Chr7:94628264 [GRCh38]
Chr7:94257576 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1064+5G>C single nucleotide variant Myoclonic dystonia 11 [RCV001055332] Chr7:94599692 [GRCh38]
Chr7:94229004 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.850A>G (p.Thr284Ala) single nucleotide variant Myoclonic dystonia 11 [RCV002569047]|not provided [RCV001570157] Chr7:94600833 [GRCh38]
Chr7:94230145 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.1064+3_1064+6del deletion Myoclonic dystonia 11 [RCV002569031]|not provided [RCV001566578] Chr7:94599691..94599694 [GRCh38]
Chr7:94229003..94229006 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1051A>G (p.Met351Val) single nucleotide variant Myoclonic dystonia 11 [RCV001058060] Chr7:94599710 [GRCh38]
Chr7:94229022 [GRCh37]
Chr7:7q21.3		 uncertain significance
NC_000007.14:g.(?_94395022)_(94585525_?)dup duplication Ehlers-Danlos syndrome, classic type [RCV001031740] Chr7:94024334..94214837 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.138C>T (p.Ser46=) single nucleotide variant Myoclonic dystonia 11 [RCV001505309] Chr7:94629813 [GRCh38]
Chr7:94259125 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.210A>G (p.Glu70=) single nucleotide variant Myoclonic dystonia 11 [RCV000869900] Chr7:94629741 [GRCh38]
Chr7:94259053 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1254-10del deletion Myoclonic dystonia 11 [RCV000982019] Chr7:94588742 [GRCh38]
Chr7:94218054 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001050501] Chr7:94598889 [GRCh38]
Chr7:94228201 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1091T>C (p.Ile364Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001066816] Chr7:94598937 [GRCh38]
Chr7:94228249 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.799del (p.Tyr267fs) deletion Myoclonic dystonia 11 [RCV001050639] Chr7:94603316 [GRCh38]
Chr7:94232628 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.194A>T (p.Glu65Val) single nucleotide variant Myoclonic dystonia 11 [RCV001062801] Chr7:94629757 [GRCh38]
Chr7:94259069 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.788G>A (p.Arg263His) single nucleotide variant Movement disorder [RCV003483765]|Myoclonic dystonia 11 [RCV001051288]|not provided [RCV001091395] Chr7:94603327 [GRCh38]
Chr7:94232639 [GRCh37]
Chr7:7q21.3		 likely pathogenic|uncertain significance
NM_003919.3(SGCE):c.1003C>T (p.Leu335Phe) single nucleotide variant Myoclonic dystonia 11 [RCV001039938] Chr7:94600680 [GRCh38]
Chr7:94229992 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser) single nucleotide variant Myoclonic dystonia 11 [RCV000995640] Chr7:94603373 [GRCh38]
Chr7:94232685 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg) single nucleotide variant Myoclonic dystonia 11 [RCV000995641] Chr7:94628278 [GRCh38]
Chr7:94257590 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg) single nucleotide variant Myoclonic dystonia 11 [RCV000995642] Chr7:94629781 [GRCh38]
Chr7:94259093 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.1010A>C (p.Tyr337Ser) single nucleotide variant not provided [RCV003312685] Chr7:94600673 [GRCh38]
Chr7:94229985 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.934_935del (p.Asp312fs) microsatellite not provided [RCV003312686] Chr7:94600748..94600749 [GRCh38]
Chr7:94230060..94230061 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.956T>C (p.Ile319Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001043361] Chr7:94600727 [GRCh38]
Chr7:94230039 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.591C>T (p.Asn197=) single nucleotide variant Myoclonic dystonia 11 [RCV001515855] Chr7:94618829 [GRCh38]
Chr7:94248141 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.294T>C (p.Pro98=) single nucleotide variant Myoclonic dystonia 11 [RCV000872233] Chr7:94628298 [GRCh38]
Chr7:94257610 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.436T>C (p.Leu146=) single nucleotide variant Myoclonic dystonia 11 [RCV000872777]|not provided [RCV002264032] Chr7:94623352 [GRCh38]
Chr7:94252664 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.294T>A (p.Pro98=) single nucleotide variant Myoclonic dystonia 11 [RCV001477746] Chr7:94628298 [GRCh38]
Chr7:94257610 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1128G>A (p.Lys376=) single nucleotide variant not provided [RCV000922340] Chr7:94598900 [GRCh38]
Chr7:94228212 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1165G>C (p.Val389Leu) single nucleotide variant Myoclonic dystonia 11 [RCV000862771]|not provided [RCV001567616] Chr7:94598863 [GRCh38]
Chr7:94228175 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.110-9T>C single nucleotide variant Myoclonic dystonia 11 [RCV000926090]|SGCE-related condition [RCV003903061] Chr7:94629850 [GRCh38]
Chr7:94259162 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.443T>A (p.Ile148Asn) single nucleotide variant Myoclonic dystonia 11 [RCV003314396] Chr7:94623345 [GRCh38]
Chr7:94252657 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.142C>A (p.Arg48=) single nucleotide variant Myoclonic dystonia 11 [RCV000818912] Chr7:94629809 [GRCh38]
Chr7:94259121 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.710G>A (p.Arg237Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000806007] Chr7:94603405 [GRCh38]
Chr7:94232717 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1038G>C (p.Val346=) single nucleotide variant Myoclonic dystonia 11 [RCV000822891] Chr7:94599723 [GRCh38]
Chr7:94229035 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.268A>T (p.Asn90Tyr) single nucleotide variant Myoclonic dystonia 11 [RCV000815863] Chr7:94628324 [GRCh38]
Chr7:94257636 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.444_447del (p.Ile148_Asn149insTer) microsatellite Myoclonic dystonia 11 [RCV000801179] Chr7:94623341..94623344 [GRCh38]
Chr7:94252653..94252656 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.972C>T (p.Pro324=) single nucleotide variant Myoclonic dystonia 11 [RCV001424796] Chr7:94600711 [GRCh38]
Chr7:94230023 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.391-79G>T single nucleotide variant not provided [RCV000992967] Chr7:94623476 [GRCh38]
Chr7:94252788 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.439dup (p.Ile147fs) duplication not provided [RCV000992968] Chr7:94623348..94623349 [GRCh38]
Chr7:94252660..94252661 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.892G>A (p.Gly298Ser) single nucleotide variant Inborn genetic diseases [RCV004028735]|Myoclonic dystonia 11 [RCV000811603] Chr7:94600791 [GRCh38]
Chr7:94230103 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr) single nucleotide variant Myoclonic dystonia 11 [RCV000995639]|not provided [RCV000998848] Chr7:94603303 [GRCh38]
Chr7:94232615 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.800_804del (p.Phe266_Tyr267insTer) deletion not provided [RCV000998849] Chr7:94603311..94603315 [GRCh38]
Chr7:94232623..94232627 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.764T>C (p.Val255Ala) single nucleotide variant Myoclonic dystonia 11 [RCV002549109]|not provided [RCV000998850] Chr7:94603351 [GRCh38]
Chr7:94232663 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.610del (p.Ala204fs) deletion Myoclonic dystonia 11 [RCV000810138] Chr7:94618810 [GRCh38]
Chr7:94248122 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.413C>G (p.Thr138Ser) single nucleotide variant Myoclonic dystonia 11 [RCV000800723] Chr7:94623375 [GRCh38]
Chr7:94252687 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1157C>G (p.Thr386Arg) single nucleotide variant Inborn genetic diseases [RCV004028668]|Myoclonic dystonia 11 [RCV000809451]|not provided [RCV001171866] Chr7:94598871 [GRCh38]
Chr7:94228183 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1214A>G (p.Asn405Ser) single nucleotide variant Myoclonic dystonia 11 [RCV000803351] Chr7:94598814 [GRCh38]
Chr7:94228126 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.143G>A (p.Arg48Gln) single nucleotide variant Myoclonic dystonia 11 [RCV000823446] Chr7:94629808 [GRCh38]
Chr7:94259120 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.974del (p.Ser325fs) deletion Myoclonic dystonia 11 [RCV000006131] Chr7:94600709 [GRCh38]
Chr7:94230021 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.176T>C (p.Val59Ala) single nucleotide variant Myoclonic dystonia 11 [RCV000821212] Chr7:94629775 [GRCh38]
Chr7:94259087 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.370G>A (p.Gly124Arg) single nucleotide variant Myoclonic dystonia 11 [RCV000805484] Chr7:94628222 [GRCh38]
Chr7:94257534 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.664G>A (p.Val222Ile) single nucleotide variant Myoclonic dystonia 11 [RCV000792862] Chr7:94603451 [GRCh38]
Chr7:94232763 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+1G>A single nucleotide variant Myoclonic dystonia 11 [RCV000811007] Chr7:94623324 [GRCh38]
Chr7:94252636 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.799T>A (p.Tyr267Asn) single nucleotide variant Myoclonic dystonia 11 [RCV000818620] Chr7:94603316 [GRCh38]
Chr7:94232628 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.378A>C (p.Pro126=) single nucleotide variant Myoclonic dystonia 11 [RCV001486678] Chr7:94628214 [GRCh38]
Chr7:94257526 [GRCh37]
Chr7:7q21.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_003919.3(SGCE):c.850del (p.Thr284fs) deletion Myoclonic dystonia 11 [RCV002573300]|not provided [RCV001581745] Chr7:94600833 [GRCh38]
Chr7:94230145 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.1275G>C (p.Gln425His) single nucleotide variant Myoclonic dystonia 11 [RCV000809217] Chr7:94588711 [GRCh38]
Chr7:94218023 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.446A>C (p.Asn149Thr) single nucleotide variant Myoclonic dystonia 11 [RCV000817351]|not provided [RCV003442110] Chr7:94623342 [GRCh38]
Chr7:94252654 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1141G>A (p.Ala381Thr) single nucleotide variant Myoclonic dystonia 11 [RCV000817382] Chr7:94598887 [GRCh38]
Chr7:94228199 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.409C>A (p.Arg137Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001058972] Chr7:94623379 [GRCh38]
Chr7:94252691 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1298-10C>T single nucleotide variant Myoclonic dystonia 11 [RCV001475564] Chr7:94585525 [GRCh38]
Chr7:94214837 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.210A>T (p.Glu70Asp) single nucleotide variant Myoclonic dystonia 11 [RCV001216152] Chr7:94629741 [GRCh38]
Chr7:94259053 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.235G>A (p.Glu79Lys) single nucleotide variant Myoclonic dystonia 11 [RCV001217129] Chr7:94628357 [GRCh38]
Chr7:94257669 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1106A>G (p.Lys369Arg) single nucleotide variant Myoclonic dystonia 11 [RCV001234425]|not provided [RCV003442798] Chr7:94598922 [GRCh38]
Chr7:94228234 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1027C>T (p.Arg343Trp) single nucleotide variant Myoclonic dystonia 11 [RCV001223085] Chr7:94600656 [GRCh38]
Chr7:94229968 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1015A>G (p.Met339Val) single nucleotide variant Myoclonic dystonia 11 [RCV001221406] Chr7:94600668 [GRCh38]
Chr7:94229980 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.776A>T (p.Asp259Val) single nucleotide variant Myoclonic dystonia 11 [RCV001196914] Chr7:94603339 [GRCh38]
Chr7:94232651 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.283C>T (p.Pro95Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001215535] Chr7:94628309 [GRCh38]
Chr7:94257621 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.546del (p.Gly185fs) deletion not provided [RCV001008986] Chr7:94618874 [GRCh38]
Chr7:94248186 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1208_1209del (p.Thr403fs) microsatellite Myoclonic dystonia 11 [RCV003106562] Chr7:94598819..94598820 [GRCh38]
Chr7:94228131..94228132 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1038-257T>C single nucleotide variant not provided [RCV001550058] Chr7:94599980 [GRCh38]
Chr7:94229292 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.232+3A>G single nucleotide variant Myoclonic dystonia 11 [RCV003223422]|not provided [RCV001562353] Chr7:94629716 [GRCh38]
Chr7:94259028 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.663-320T>A single nucleotide variant not provided [RCV001687880] Chr7:94603772 [GRCh38]
Chr7:94233084 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.693G>A (p.Pro231=) single nucleotide variant Myoclonic dystonia 11 [RCV000931898] Chr7:94603422 [GRCh38]
Chr7:94232734 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.606A>C (p.Thr202=) single nucleotide variant Myoclonic dystonia 11 [RCV000862915] Chr7:94618814 [GRCh38]
Chr7:94248126 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.711A>G (p.Arg237=) single nucleotide variant Myoclonic dystonia 11 [RCV001505014] Chr7:94603404 [GRCh38]
Chr7:94232716 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1074G>A (p.Leu358=) single nucleotide variant Myoclonic dystonia 11 [RCV000868235] Chr7:94598954 [GRCh38]
Chr7:94228266 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.471G>A (p.Pro157=) single nucleotide variant Myoclonic dystonia 11 [RCV001163100] Chr7:94618949 [GRCh38]
Chr7:94248261 [GRCh37]
Chr7:7q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.421_423dup (p.Thr141dup) duplication Myoclonic dystonia 11 [RCV001225773] Chr7:94623364..94623365 [GRCh38]
Chr7:94252676..94252677 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.129_130delinsT (p.Lys43fs) indel Myoclonic dystonia 11 [RCV001244611] Chr7:94629821..94629822 [GRCh38]
Chr7:94259133..94259134 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1129A>C (p.Asn377His) single nucleotide variant Myoclonic dystonia 11 [RCV001207926] Chr7:94598899 [GRCh38]
Chr7:94228211 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1109A>G (p.Glu370Gly) single nucleotide variant Myoclonic dystonia 11 [RCV001071920] Chr7:94598919 [GRCh38]
Chr7:94228231 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1277T>C (p.Ile426Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001053703] Chr7:94588709 [GRCh38]
Chr7:94218021 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.500A>G (p.Lys167Arg) single nucleotide variant Myoclonic dystonia 11 [RCV001221119] Chr7:94618920 [GRCh38]
Chr7:94248232 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter) single nucleotide variant Myoclonic dystonia 11 [RCV000987928] Chr7:94603322 [GRCh38]
Chr7:94232634 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.163G>T (p.Gly55Cys) single nucleotide variant not provided [RCV002464713] Chr7:94629788 [GRCh38]
Chr7:94259100 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+241A>G single nucleotide variant not provided [RCV001558828] Chr7:94598534 [GRCh38]
Chr7:94227846 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.274A>G (p.Met92Val) single nucleotide variant not provided [RCV002469623] Chr7:94628318 [GRCh38]
Chr7:94257630 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1297+811T>A single nucleotide variant not provided [RCV001722770] Chr7:94587878 [GRCh38]
Chr7:94217190 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.662+99G>T single nucleotide variant not provided [RCV001722772] Chr7:94618659 [GRCh38]
Chr7:94247971 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.1065-42T>C single nucleotide variant not provided [RCV001539264] Chr7:94599005 [GRCh38]
Chr7:94228317 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.663-1G>A single nucleotide variant not provided [RCV001171867] Chr7:94603453 [GRCh38]
Chr7:94232765 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.390+39GT[16] microsatellite not provided [RCV001534128] Chr7:94628137..94628138 [GRCh38]
Chr7:94257449..94257450 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.1253+272A>G single nucleotide variant not provided [RCV001652270] Chr7:94598503 [GRCh38]
Chr7:94227815 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.445A>G (p.Asn149Asp) single nucleotide variant Myoclonic dystonia 11 [RCV001218694] Chr7:94623343 [GRCh38]
Chr7:94252655 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.158C>T (p.Ser53Leu) single nucleotide variant Myoclonic dystonia 11 [RCV001042545] Chr7:94629793 [GRCh38]
Chr7:94259105 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+2dup duplication Myoclonic dystonia 11 [RCV001204214] Chr7:94598772..94598773 [GRCh38]
Chr7:94228084..94228085 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.386T>C (p.Ile129Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001217933] Chr7:94628206 [GRCh38]
Chr7:94257518 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.962T>C (p.Leu321Pro) single nucleotide variant Myoclonic dystonia 11 [RCV001046078] Chr7:94600721 [GRCh38]
Chr7:94230033 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.234C>T (p.Gly78=) single nucleotide variant Myoclonic dystonia 11 [RCV001228626] Chr7:94628358 [GRCh38]
Chr7:94257670 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.220T>C (p.Tyr74His) single nucleotide variant Myoclonic dystonia 11 [RCV001213384] Chr7:94629731 [GRCh38]
Chr7:94259043 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1122G>A (p.Met374Ile) single nucleotide variant Myoclonic dystonia 11 [RCV001038104] Chr7:94598906 [GRCh38]
Chr7:94228218 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.147T>G (p.Asn49Lys) single nucleotide variant Myoclonic dystonia 11 [RCV001072021] Chr7:94629804 [GRCh38]
Chr7:94259116 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.452T>A (p.Met151Lys) single nucleotide variant Myoclonic dystonia 11 [RCV001202405] Chr7:94623336 [GRCh38]
Chr7:94252648 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.584G>A (p.Arg195His) single nucleotide variant Inborn genetic diseases [RCV002568633]|Myoclonic dystonia 11 [RCV001245785] Chr7:94618836 [GRCh38]
Chr7:94248148 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.941A>C (p.Tyr314Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001214929] Chr7:94600742 [GRCh38]
Chr7:94230054 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.3(chr7:93516132-95668733) copy number loss Myoclonic dystonia 11 [RCV001254167] Chr7:93516132..95668733 [GRCh37]
Chr7:7q21.3		 pathogenic
GRCh37/hg19 7q21.3(chr7:93209718-94202220)x3 copy number gain not provided [RCV001258809] Chr7:93209718..94202220 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.391-1G>C single nucleotide variant not provided [RCV001268466] Chr7:94623398 [GRCh38]
Chr7:94252710 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.241A>G (p.Ser81Gly) single nucleotide variant Myoclonic dystonia 11 [RCV001348324] Chr7:94628351 [GRCh38]
Chr7:94257663 [GRCh37]
Chr7:7q21.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_003919.3(SGCE):c.358G>A (p.Ala120Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001313920] Chr7:94628234 [GRCh38]
Chr7:94257546 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.967G>A (p.Val323Met) single nucleotide variant Myoclonic dystonia 11 [RCV001350761] Chr7:94600716 [GRCh38]
Chr7:94230028 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+6T>G single nucleotide variant Myoclonic dystonia 11 [RCV001351010] Chr7:94623319 [GRCh38]
Chr7:94252631 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1121T>C (p.Met374Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001316644] Chr7:94598907 [GRCh38]
Chr7:94228219 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1153T>C (p.Ser385Pro) single nucleotide variant Myoclonic dystonia 11 [RCV001341207] Chr7:94598875 [GRCh38]
Chr7:94228187 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.763G>A (p.Val255Ile) single nucleotide variant Myoclonic dystonia 11 [RCV001306344] Chr7:94603352 [GRCh38]
Chr7:94232664 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.895G>A (p.Gly299Arg) single nucleotide variant Myoclonic dystonia 11 [RCV001321675] Chr7:94600788 [GRCh38]
Chr7:94230100 [GRCh37]
Chr7:7q21.3		 uncertain significance
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
NM_003919.3(SGCE):c.909C>T (p.Pro303=) single nucleotide variant Myoclonic dystonia 11 [RCV001396641] Chr7:94600774 [GRCh38]
Chr7:94230086 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1058C>A (p.Thr353Lys) single nucleotide variant Myoclonic dystonia 11 [RCV001361558] Chr7:94599703 [GRCh38]
Chr7:94229015 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.287A>G (p.Asp96Gly) single nucleotide variant Myoclonic dystonia 11 [RCV001338512] Chr7:94628305 [GRCh38]
Chr7:94257617 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer) deletion Myoclonic dystonia 11 [RCV001375674] Chr7:94600672 [GRCh38]
Chr7:94229984 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.623_650del (p.Gly208fs) deletion Myoclonic dystonia 11 [RCV001382930] Chr7:94618770..94618797 [GRCh38]
Chr7:94248082..94248109 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1104C>A (p.Thr368=) single nucleotide variant Myoclonic dystonia 11 [RCV001433657] Chr7:94598924 [GRCh38]
Chr7:94228236 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.410G>A (p.Arg137His) single nucleotide variant Myoclonic dystonia 11 [RCV001421985]|SGCE-related condition [RCV003946103] Chr7:94623378 [GRCh38]
Chr7:94252690 [GRCh37]
Chr7:7q21.3		 likely benign|conflicting interpretations of pathogenicity
NM_003919.3(SGCE):c.874G>C (p.Glu292Gln) single nucleotide variant Myoclonic dystonia 11 [RCV001348636] Chr7:94600809 [GRCh38]
Chr7:94230121 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1063G>C (p.Asp355His) single nucleotide variant Myoclonic dystonia 11 [RCV001305416] Chr7:94599698 [GRCh38]
Chr7:94229010 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+5G>C single nucleotide variant Myoclonic dystonia 11 [RCV001344049] Chr7:94623320 [GRCh38]
Chr7:94252632 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.741A>T (p.Arg247Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001302298] Chr7:94603374 [GRCh38]
Chr7:94232686 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1186G>A (p.Glu396Lys) single nucleotide variant Myoclonic dystonia 11 [RCV001322365] Chr7:94598842 [GRCh38]
Chr7:94228154 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.475C>T (p.Pro159Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001341406] Chr7:94618945 [GRCh38]
Chr7:94248257 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.692C>T (p.Pro231Leu) single nucleotide variant Myoclonic dystonia 11 [RCV001363723] Chr7:94603423 [GRCh38]
Chr7:94232735 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1195C>G (p.Pro399Ala) single nucleotide variant Myoclonic dystonia 11 [RCV001373249] Chr7:94598833 [GRCh38]
Chr7:94228145 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1198C>T (p.Pro400Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001368574] Chr7:94598830 [GRCh38]
Chr7:94228142 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.259T>C (p.Phe87Leu) single nucleotide variant Myoclonic dystonia 11 [RCV001329783] Chr7:94628333 [GRCh38]
Chr7:94257645 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.305G>A (p.Arg102Gln) single nucleotide variant Myoclonic dystonia 11 [RCV001366833] Chr7:94628287 [GRCh38]
Chr7:94257599 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.662+6C>T single nucleotide variant Myoclonic dystonia 11 [RCV001366974] Chr7:94618752 [GRCh38]
Chr7:94248064 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.646A>G (p.Asn216Asp) single nucleotide variant Myoclonic dystonia 11 [RCV001367787] Chr7:94618774 [GRCh38]
Chr7:94248086 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1016T>C (p.Met339Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001365587] Chr7:94600667 [GRCh38]
Chr7:94229979 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.440T>G (p.Ile147Arg) single nucleotide variant Myoclonic dystonia 11 [RCV001317721] Chr7:94623348 [GRCh38]
Chr7:94252660 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1064+9C>T single nucleotide variant Myoclonic dystonia 11 [RCV001502650] Chr7:94599688 [GRCh38]
Chr7:94229000 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1248G>C (p.Thr416=) single nucleotide variant Myoclonic dystonia 11 [RCV001404777] Chr7:94598780 [GRCh38]
Chr7:94228092 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.135C>T (p.His45=) single nucleotide variant Myoclonic dystonia 11 [RCV001440380] Chr7:94629816 [GRCh38]
Chr7:94259128 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.130_134del (p.Val44fs) deletion Myoclonic dystonia 11 [RCV001381959] Chr7:94629817..94629821 [GRCh38]
Chr7:94259129..94259133 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.390+39GT[14] microsatellite not provided [RCV001643507] Chr7:94628137..94628138 [GRCh38]
Chr7:94257449..94257450 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.232+291T>G single nucleotide variant not provided [RCV001537091] Chr7:94629428 [GRCh38]
Chr7:94258740 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.942C>A (p.Tyr314Ter) single nucleotide variant Myoclonic dystonia 11 [RCV001381224] Chr7:94600741 [GRCh38]
Chr7:94230053 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.233-5T>A single nucleotide variant Myoclonic dystonia 11 [RCV001444281] Chr7:94628364 [GRCh38]
Chr7:94257676 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.600C>T (p.Asn200=) single nucleotide variant Myoclonic dystonia 11 [RCV001444563] Chr7:94618820 [GRCh38]
Chr7:94248132 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.604dup (p.Thr202fs) duplication Myoclonic dystonia 11 [RCV001388179] Chr7:94618815..94618816 [GRCh38]
Chr7:94248127..94248128 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1038-7T>C single nucleotide variant Myoclonic dystonia 11 [RCV001428129] Chr7:94599730 [GRCh38]
Chr7:94229042 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1101T>A (p.Ser367=) single nucleotide variant Myoclonic dystonia 11 [RCV001496630] Chr7:94598927 [GRCh38]
Chr7:94228239 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.225A>T (p.Pro75=) single nucleotide variant Myoclonic dystonia 11 [RCV001499488] Chr7:94629726 [GRCh38]
Chr7:94259038 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.139G>A (p.Asp47Asn) single nucleotide variant Inborn genetic diseases [RCV003246967]|Myoclonic dystonia 11 [RCV001436706] Chr7:94629812 [GRCh38]
Chr7:94259124 [GRCh37]
Chr7:7q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003919.3(SGCE):c.405C>T (p.Asn135=) single nucleotide variant Myoclonic dystonia 11 [RCV001427289] Chr7:94623383 [GRCh38]
Chr7:94252695 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1038-236C>T single nucleotide variant not provided [RCV001717373] Chr7:94599959 [GRCh38]
Chr7:94229271 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.233-325T>C single nucleotide variant not provided [RCV001715920] Chr7:94628684 [GRCh38]
Chr7:94257996 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.1038-245C>T single nucleotide variant not provided [RCV001619450] Chr7:94599968 [GRCh38]
Chr7:94229280 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu) single nucleotide variant Myoclonic dystonia 11 [RCV003136124]|not provided [RCV001665520] Chr7:94628257 [GRCh38]
Chr7:94257569 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1162A>G (p.Asn388Asp) single nucleotide variant not specified [RCV004137076] Chr7:94537790 [GRCh38]
Chr7:94167102 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.751G>T (p.Glu251Ter) single nucleotide variant Myoclonic dystonia 11 [RCV002544228]|not provided [RCV001777094] Chr7:94603364 [GRCh38]
Chr7:94232676 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.500A>C (p.Lys167Thr) single nucleotide variant not provided [RCV001758473] Chr7:94618920 [GRCh38]
Chr7:94248232 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.920C>A (p.Ser307Tyr) single nucleotide variant not provided [RCV001771110] Chr7:94600763 [GRCh38]
Chr7:94230075 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.322C>A (p.Pro108Thr) single nucleotide variant not provided [RCV001752846] Chr7:94628270 [GRCh38]
Chr7:94257582 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.772T>A (p.Cys258Ser) single nucleotide variant not provided [RCV001774544] Chr7:94603343 [GRCh38]
Chr7:94232655 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.597A>G (p.Ile199Met) single nucleotide variant Myoclonic dystonia 11 [RCV003136137]|not provided [RCV001758615] Chr7:94618823 [GRCh38]
Chr7:94248135 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.521del (p.Met174fs) deletion Myoclonic dystonia 11 [RCV001799575] Chr7:94618899 [GRCh38]
Chr7:94248211 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.662G>T (p.Gly221Val) single nucleotide variant Myoclonic dystonia 11 [RCV001796910] Chr7:94618758 [GRCh38]
Chr7:94248070 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.461A>G (p.Glu154Gly) single nucleotide variant not provided [RCV001758383] Chr7:94623327 [GRCh38]
Chr7:94252639 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1139T>G (p.Ile380Arg) single nucleotide variant Myoclonic dystonia 11 [RCV001779351] Chr7:94598889 [GRCh38]
Chr7:94228201 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.535G>A (p.Val179Ile) single nucleotide variant Myoclonic dystonia 11 [RCV001870663] Chr7:94618885 [GRCh38]
Chr7:94248197 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.895G>T (p.Gly299Ter) single nucleotide variant Myoclonic dystonia 11 [RCV001985370] Chr7:94600788 [GRCh38]
Chr7:94230100 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.704_707del (p.Cys235fs) deletion Myoclonic dystonia 11 [RCV001969833] Chr7:94603408..94603411 [GRCh38]
Chr7:94232720..94232723 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.716T>C (p.Val239Ala) single nucleotide variant Myoclonic dystonia 11 [RCV001874074] Chr7:94603399 [GRCh38]
Chr7:94232711 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter) duplication Myoclonic dystonia 11 [RCV001946866] Chr7:94629753..94629754 [GRCh38]
Chr7:94259065..94259066 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.662+2T>A single nucleotide variant Myoclonic dystonia 11 [RCV002025803] Chr7:94618756 [GRCh38]
Chr7:94248068 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.429G>T (p.Arg143Ser) single nucleotide variant Inborn genetic diseases [RCV002557687]|Myoclonic dystonia 11 [RCV001945392] Chr7:94623359 [GRCh38]
Chr7:94252671 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.413C>A (p.Thr138Asn) single nucleotide variant Myoclonic dystonia 11 [RCV001895507] Chr7:94623375 [GRCh38]
Chr7:94252687 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter) single nucleotide variant Myoclonic dystonia 11 [RCV001967209] Chr7:94600741 [GRCh38]
Chr7:94230053 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.938A>G (p.Tyr313Cys) single nucleotide variant Myoclonic dystonia 11 [RCV001894236] Chr7:94600745 [GRCh38]
Chr7:94230057 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.802dup (p.Ile268fs) duplication Myoclonic dystonia 11 [RCV001783738] Chr7:94603312..94603313 [GRCh38]
Chr7:94232624..94232625 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.1010A>G (p.Tyr337Cys) single nucleotide variant Myoclonic dystonia 11 [RCV001947102] Chr7:94600673 [GRCh38]
Chr7:94229985 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.391-1G>A single nucleotide variant Myoclonic dystonia 11 [RCV002034705]|not provided [RCV001837661] Chr7:94623398 [GRCh38]
Chr7:94252710 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.777T>G (p.Asp259Glu) single nucleotide variant Myoclonic dystonia 11 [RCV001893884] Chr7:94603338 [GRCh38]
Chr7:94232650 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1296dup (p.Gly433fs) duplication Myoclonic dystonia 11 [RCV001785868] Chr7:94588689..94588690 [GRCh38]
Chr7:94218001..94218002 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.974C>T (p.Ser325Leu) single nucleotide variant Myoclonic dystonia 11 [RCV001928316] Chr7:94600709 [GRCh38]
Chr7:94230021 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.813C>A (p.Cys271Ter) single nucleotide variant Myoclonic dystonia 11 [RCV002007424] Chr7:94603302 [GRCh38]
Chr7:94232614 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.580del (p.Glu194fs) deletion Myoclonic dystonia 11 [RCV001965458] Chr7:94618840 [GRCh38]
Chr7:94248152 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer) insertion Myoclonic dystonia 11 [RCV001908922] Chr7:94600817..94600818 [GRCh38]
Chr7:94230129..94230130 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.547T>C (p.Phe183Leu) single nucleotide variant Myoclonic dystonia 11 [RCV001967289] Chr7:94618873 [GRCh38]
Chr7:94248185 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys) single nucleotide variant Myoclonic dystonia 11 [RCV001941900] Chr7:94628248 [GRCh38]
Chr7:94257560 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.651C>A (p.Asp217Glu) single nucleotide variant Myoclonic dystonia 11 [RCV002011913] Chr7:94618769 [GRCh38]
Chr7:94248081 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.830A>C (p.Asp277Ala) single nucleotide variant Myoclonic dystonia 11 [RCV001918378] Chr7:94600853 [GRCh38]
Chr7:94230165 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.743G>A (p.Cys248Tyr) single nucleotide variant Myoclonic dystonia 11 [RCV002039203] Chr7:94603372 [GRCh38]
Chr7:94232684 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.495_498del (p.Phe165fs) deletion Myoclonic dystonia 11 [RCV002035484] Chr7:94618922..94618925 [GRCh38]
Chr7:94248234..94248237 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.943A>G (p.Thr315Ala) single nucleotide variant Myoclonic dystonia 11 [RCV001934761] Chr7:94600740 [GRCh38]
Chr7:94230052 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.193_194del (p.Glu65fs) microsatellite Myoclonic dystonia 11 [RCV001923616] Chr7:94629757..94629758 [GRCh38]
Chr7:94259069..94259070 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.571_572del (p.Trp191fs) microsatellite Myoclonic dystonia 11 [RCV001941839] Chr7:94618848..94618849 [GRCh38]
Chr7:94248160..94248161 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.218C>T (p.Pro73Leu) single nucleotide variant Myoclonic dystonia 11 [RCV001922311] Chr7:94629733 [GRCh38]
Chr7:94259045 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.904_908dup (p.Pro304fs) duplication Myoclonic dystonia 11 [RCV002014465] Chr7:94600774..94600775 [GRCh38]
Chr7:94230086..94230087 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.458C>T (p.Ala153Val) single nucleotide variant Myoclonic dystonia 11 [RCV001866404] Chr7:94623330 [GRCh38]
Chr7:94252642 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.663-3C>G single nucleotide variant Myoclonic dystonia 11 [RCV002010981] Chr7:94603455 [GRCh38]
Chr7:94232767 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.663-4_666del deletion Myoclonic dystonia 11 [RCV002011072] Chr7:94603449..94603456 [GRCh38]
Chr7:94232761..94232768 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.448_452del (p.Ile150fs) deletion Myoclonic dystonia 11 [RCV001993234] Chr7:94623336..94623340 [GRCh38]
Chr7:94252648..94252652 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter) single nucleotide variant Myoclonic dystonia 11 [RCV001901477] Chr7:94629798 [GRCh38]
Chr7:94259110 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.391-19G>A single nucleotide variant Myoclonic dystonia 11 [RCV001951651] Chr7:94623416 [GRCh38]
Chr7:94252728 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.142C>T (p.Arg48Trp) single nucleotide variant Myoclonic dystonia 11 [RCV001952995] Chr7:94629809 [GRCh38]
Chr7:94259121 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1065-2A>G single nucleotide variant Myoclonic dystonia 11 [RCV002033823] Chr7:94598965 [GRCh38]
Chr7:94228277 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.627C>T (p.Gly209=) single nucleotide variant Myoclonic dystonia 11 [RCV001937453] Chr7:94618793 [GRCh38]
Chr7:94248105 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.704G>C (p.Cys235Ser) single nucleotide variant Myoclonic dystonia 11 [RCV002033933] Chr7:94603411 [GRCh38]
Chr7:94232723 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1033G>A (p.Gly345Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001939306] Chr7:94600650 [GRCh38]
Chr7:94229962 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.884T>C (p.Leu295Ser) single nucleotide variant Myoclonic dystonia 11 [RCV001866764] Chr7:94600799 [GRCh38]
Chr7:94230111 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter) single nucleotide variant Myoclonic dystonia 11 [RCV001993233] Chr7:94600780 [GRCh38]
Chr7:94230092 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.663C>G (p.Gly221=) single nucleotide variant Inborn genetic diseases [RCV003375520]|Myoclonic dystonia 11 [RCV001994383] Chr7:94603452 [GRCh38]
Chr7:94232764 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.1078C>T (p.His360Tyr) single nucleotide variant Myoclonic dystonia 11 [RCV001870220] Chr7:94598950 [GRCh38]
Chr7:94228262 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.677T>C (p.Val226Ala) single nucleotide variant Myoclonic dystonia 11 [RCV001883643] Chr7:94603438 [GRCh38]
Chr7:94232750 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1151T>G (p.Leu384Arg) single nucleotide variant Inborn genetic diseases [RCV003264337]|Myoclonic dystonia 11 [RCV001954059] Chr7:94598877 [GRCh38]
Chr7:94228189 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.288C>A (p.Asp96Glu) single nucleotide variant Myoclonic dystonia 11 [RCV001877299] Chr7:94628304 [GRCh38]
Chr7:94257616 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.321del (p.Pro108fs) deletion Myoclonic dystonia 11 [RCV002049207] Chr7:94628271 [GRCh38]
Chr7:94257583 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.300G>C (p.Trp100Cys) single nucleotide variant Myoclonic dystonia 11 [RCV001906941] Chr7:94628292 [GRCh38]
Chr7:94257604 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.663-2A>T single nucleotide variant Myoclonic dystonia 11 [RCV001939401] Chr7:94603454 [GRCh38]
Chr7:94232766 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1046G>C (p.Arg349Thr) single nucleotide variant Myoclonic dystonia 11 [RCV001998744] Chr7:94599715 [GRCh38]
Chr7:94229027 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.656A>T (p.Lys219Met) single nucleotide variant Myoclonic dystonia 11 [RCV001932422] Chr7:94618764 [GRCh38]
Chr7:94248076 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1065-22_1065-18del deletion Myoclonic dystonia 11 [RCV001994648] Chr7:94598981..94598985 [GRCh38]
Chr7:94228293..94228297 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.463+2T>A single nucleotide variant Myoclonic dystonia 11 [RCV001933476] Chr7:94623323 [GRCh38]
Chr7:94252635 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.658del (p.Glu220fs) deletion Myoclonic dystonia 11 [RCV001951331] Chr7:94618762 [GRCh38]
Chr7:94248074 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1038-4C>T single nucleotide variant Myoclonic dystonia 11 [RCV001878585] Chr7:94599727 [GRCh38]
Chr7:94229039 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1065-22_1065-20del microsatellite Myoclonic dystonia 11 [RCV002207283] Chr7:94598983..94598985 [GRCh38]
Chr7:94228295..94228297 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.555C>T (p.Gly185=) single nucleotide variant Myoclonic dystonia 11 [RCV002166230] Chr7:94618865 [GRCh38]
Chr7:94248177 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1038-18A>G single nucleotide variant Myoclonic dystonia 11 [RCV002209121] Chr7:94599741 [GRCh38]
Chr7:94229053 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.391-18G>C single nucleotide variant Myoclonic dystonia 11 [RCV002209235] Chr7:94623415 [GRCh38]
Chr7:94252727 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1141G>C (p.Ala381Pro) single nucleotide variant Myoclonic dystonia 11 [RCV002225228]|not provided [RCV002300652] Chr7:94598887 [GRCh38]
Chr7:94228199 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1237T>C (p.Leu413=) single nucleotide variant Myoclonic dystonia 11 [RCV002210217] Chr7:94598791 [GRCh38]
Chr7:94228103 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.825+1G>A single nucleotide variant not provided [RCV002226072] Chr7:94603289 [GRCh38]
Chr7:94232601 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1297+18T>C single nucleotide variant Myoclonic dystonia 11 [RCV002109983] Chr7:94588671 [GRCh38]
Chr7:94217983 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1064+16C>A single nucleotide variant Myoclonic dystonia 11 [RCV002109253] Chr7:94599681 [GRCh38]
Chr7:94228993 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.864G>A (p.Val288=) single nucleotide variant Myoclonic dystonia 11 [RCV002111024] Chr7:94600819 [GRCh38]
Chr7:94230131 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.912T>G (p.Pro304=) single nucleotide variant Myoclonic dystonia 11 [RCV002113215] Chr7:94600771 [GRCh38]
Chr7:94230083 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.232+14G>A single nucleotide variant Myoclonic dystonia 11 [RCV002210131] Chr7:94629705 [GRCh38]
Chr7:94259017 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.464-14T>A single nucleotide variant Myoclonic dystonia 11 [RCV002215726] Chr7:94618970 [GRCh38]
Chr7:94248282 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.463+19T>G single nucleotide variant Myoclonic dystonia 11 [RCV002074676] Chr7:94623306 [GRCh38]
Chr7:94252618 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.1253+15A>G single nucleotide variant Myoclonic dystonia 11 [RCV002110112] Chr7:94598760 [GRCh38]
Chr7:94228072 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.825+19T>A single nucleotide variant Myoclonic dystonia 11 [RCV002132796] Chr7:94603271 [GRCh38]
Chr7:94232583 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1037+10T>G single nucleotide variant Myoclonic dystonia 11 [RCV002100105] Chr7:94600636 [GRCh38]
Chr7:94229948 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1176T>C (p.Pro392=) single nucleotide variant Myoclonic dystonia 11 [RCV002218212] Chr7:94598852 [GRCh38]
Chr7:94228164 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs) duplication Myoclonic dystonia 11 [RCV002250346] Chr7:94603390..94603391 [GRCh38]
Chr7:94232702..94232703 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.561G>A (p.Val187=) single nucleotide variant Myoclonic dystonia 11 [RCV002163383] Chr7:94618859 [GRCh38]
Chr7:94248171 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.567T>C (p.Asn189=) single nucleotide variant Myoclonic dystonia 11 [RCV002163514] Chr7:94618853 [GRCh38]
Chr7:94248165 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.945G>A (p.Thr315=) single nucleotide variant Myoclonic dystonia 11 [RCV002154585] Chr7:94600738 [GRCh38]
Chr7:94230050 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.663-5T>C single nucleotide variant Myoclonic dystonia 11 [RCV002122504] Chr7:94603457 [GRCh38]
Chr7:94232769 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.463+19T>C single nucleotide variant Myoclonic dystonia 11 [RCV002103618] Chr7:94623306 [GRCh38]
Chr7:94252618 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1298-18C>T single nucleotide variant Myoclonic dystonia 11 [RCV002104034] Chr7:94585533 [GRCh38]
Chr7:94214845 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.879G>A (p.Gly293=) single nucleotide variant Myoclonic dystonia 11 [RCV002180746] Chr7:94600804 [GRCh38]
Chr7:94230116 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.351C>T (p.Ser117=) single nucleotide variant Myoclonic dystonia 11 [RCV002204022] Chr7:94628241 [GRCh38]
Chr7:94257553 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1012A>G (p.Ile338Val) single nucleotide variant Myoclonic dystonia 11 [RCV003110491] Chr7:94600671 [GRCh38]
Chr7:94229983 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.906A>C (p.Lys302Asn) single nucleotide variant Myoclonic dystonia 11 [RCV003115026] Chr7:94600777 [GRCh38]
Chr7:94230089 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.232+15A>G single nucleotide variant Myoclonic dystonia 11 [RCV003121243] Chr7:94629704 [GRCh38]
Chr7:94259016 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.334G>A (p.Gly112Arg) single nucleotide variant not provided [RCV003154113] Chr7:94628258 [GRCh38]
Chr7:94257570 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.868C>A (p.Arg290Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003094189]|not provided [RCV002255208] Chr7:94600815 [GRCh38]
Chr7:94230127 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1254-33del deletion not provided [RCV002290939] Chr7:94588765 [GRCh38]
Chr7:94218077 [GRCh37]
Chr7:7q21.3		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_003919.3(SGCE):c.811_812del (p.Cys271fs) deletion not provided [RCV002293174] Chr7:94603303..94603304 [GRCh38]
Chr7:94232615..94232616 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.483del (p.Ala162fs) deletion Myoclonic dystonia 11 [RCV002289463] Chr7:94618937 [GRCh38]
Chr7:94248249 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.946del (p.Asp316fs) deletion Myoclonic dystonia 11 [RCV002289498] Chr7:94600737 [GRCh38]
Chr7:94230049 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.463+698_463+699del microsatellite not provided [RCV002263446] Chr7:94622626..94622627 [GRCh38]
Chr7:94251938..94251939 [GRCh37]
Chr7:7q21.3		 benign|likely benign
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter) single nucleotide variant Myoclonic dystonia 11 [RCV002468786] Chr7:94603337 [GRCh38]
Chr7:94232649 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1285C>T (p.Gln429Ter) single nucleotide variant not provided [RCV003152132] Chr7:94588701 [GRCh38]
Chr7:94218013 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.703dup (p.Cys235fs) duplication Myoclonic dystonia 11 [RCV002468787] Chr7:94603411..94603412 [GRCh38]
Chr7:94232723..94232724 [GRCh37]
Chr7:7q21.3		 pathogenic
GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1 copy number loss not provided [RCV002474498] Chr7:92721627..98311537 [GRCh37]
Chr7:7q21.2-22.1		 pathogenic
NM_003919.3(SGCE):c.898_899del (p.Glu300fs) microsatellite Myoclonic dystonia 11 [RCV002468785] Chr7:94600784..94600785 [GRCh38]
Chr7:94230096..94230097 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser) single nucleotide variant Myoclonic dystonia 11 [RCV002468788] Chr7:94618929 [GRCh38]
Chr7:94248241 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter) single nucleotide variant Myoclonic dystonia 11 [RCV002468789] Chr7:94628320 [GRCh38]
Chr7:94257632 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.878G>C (p.Gly293Ala) single nucleotide variant Myoclonic dystonia 11 [RCV003138163]|not provided [RCV002306083] Chr7:94600805 [GRCh38]
Chr7:94230117 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.391-82_405del deletion Myoclonic dystonia 11 [RCV000006127] Chr7:94623383..94623479 [GRCh38]
Chr7:94252695..94252791 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.827T>C (p.Val276Ala) single nucleotide variant Myoclonic dystonia 11 [RCV002301104] Chr7:94600856 [GRCh38]
Chr7:94230168 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+799G>A single nucleotide variant Myoclonic dystonia 11 [RCV002295365]|SGCE-related condition [RCV003926359] Chr7:94597976 [GRCh38]
Chr7:94227288 [GRCh37]
Chr7:7q21.3		 likely benign|uncertain significance
NM_003919.3(SGCE):c.663-6109_825+550del deletion Myoclonic dystonia 11 [RCV000006134] Chr7:94602740..94609561 [GRCh38]
Chr7:94232052..94238873 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1135G>A (p.Glu379Lys) single nucleotide variant Myoclonic dystonia 11 [RCV002302025] Chr7:94598893 [GRCh38]
Chr7:94228205 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.320C>T (p.Thr107Ile) single nucleotide variant Myoclonic dystonia 11 [RCV002303236] Chr7:94628272 [GRCh38]
Chr7:94257584 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1065-6A>G single nucleotide variant Myoclonic dystonia 11 [RCV002614956] Chr7:94598969 [GRCh38]
Chr7:94228281 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.927A>T (p.Lys309Asn) single nucleotide variant Myoclonic dystonia 11 [RCV002904208] Chr7:94600756 [GRCh38]
Chr7:94230068 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.632C>G (p.Pro211Arg) single nucleotide variant not specified [RCV004086994] Chr7:94535312 [GRCh38]
Chr7:94164624 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.828A>C (p.Glu276Asp) single nucleotide variant not specified [RCV004127935] Chr7:94535508 [GRCh38]
Chr7:94164820 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.674T>C (p.Met225Thr) single nucleotide variant Myoclonic dystonia 11 [RCV002727180] Chr7:94603441 [GRCh38]
Chr7:94232753 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1271C>G (p.Thr424Ser) single nucleotide variant Myoclonic dystonia 11 [RCV002615688] Chr7:94588715 [GRCh38]
Chr7:94218027 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.579del (p.Glu194fs) deletion Myoclonic dystonia 11 [RCV003034993] Chr7:94618841 [GRCh38]
Chr7:94248153 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1064+17C>T single nucleotide variant Myoclonic dystonia 11 [RCV002690292] Chr7:94599680 [GRCh38]
Chr7:94228992 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.169C>T (p.Leu57Phe) single nucleotide variant Myoclonic dystonia 11 [RCV002730862] Chr7:94629782 [GRCh38]
Chr7:94259094 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.185T>C (p.Leu62Ser) single nucleotide variant not provided [RCV002475410] Chr7:94629766 [GRCh38]
Chr7:94259078 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1221T>C (p.Asp407=) single nucleotide variant Myoclonic dystonia 11 [RCV002616079] Chr7:94598807 [GRCh38]
Chr7:94228119 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.390+14A>C single nucleotide variant Myoclonic dystonia 11 [RCV002771499] Chr7:94628188 [GRCh38]
Chr7:94257500 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.871G>A (p.Gly291Arg) single nucleotide variant Myoclonic dystonia 11 [RCV002861562] Chr7:94600812 [GRCh38]
Chr7:94230124 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.754A>G (p.Met252Val) single nucleotide variant Myoclonic dystonia 11 [RCV002750844] Chr7:94603361 [GRCh38]
Chr7:94232673 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1728G>T (p.Lys576Asn) single nucleotide variant not specified [RCV004151111] Chr7:94549547 [GRCh38]
Chr7:94178859 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1045A>G (p.Arg349Gly) single nucleotide variant not provided [RCV002512338] Chr7:94599716 [GRCh38]
Chr7:94229028 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.826-1G>A single nucleotide variant not provided [RCV002475407] Chr7:94600858 [GRCh38]
Chr7:94230170 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_022900.5(CASD1):c.2074G>A (p.Ala692Thr) single nucleotide variant not specified [RCV004111704] Chr7:94554522 [GRCh38]
Chr7:94183834 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.826-6T>C single nucleotide variant Myoclonic dystonia 11 [RCV002996286] Chr7:94600863 [GRCh38]
Chr7:94230175 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.158C>A (p.Ser53Ter) single nucleotide variant Myoclonic dystonia 11 [RCV002881919] Chr7:94629793 [GRCh38]
Chr7:94259105 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.609G>A (p.Ser203=) single nucleotide variant Myoclonic dystonia 11 [RCV002727161] Chr7:94618811 [GRCh38]
Chr7:94248123 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.774_775del (p.Cys258_Asp259delinsTer) microsatellite Myoclonic dystonia 11 [RCV002815217] Chr7:94603340..94603341 [GRCh38]
Chr7:94232652..94232653 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1195C>T (p.Pro399Ser) single nucleotide variant Myoclonic dystonia 11 [RCV002908695] Chr7:94598833 [GRCh38]
Chr7:94228145 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463G>A (p.Asp155Asn) single nucleotide variant not provided [RCV002475408] Chr7:94623325 [GRCh38]
Chr7:94252637 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.903C>G (p.Tyr301Ter) single nucleotide variant not provided [RCV002475409] Chr7:94600780 [GRCh38]
Chr7:94230092 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.825+1G>T single nucleotide variant Myoclonic dystonia 11 [RCV002889814] Chr7:94603289 [GRCh38]
Chr7:94232601 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.390+3A>C single nucleotide variant Myoclonic dystonia 11 [RCV003039394] Chr7:94628199 [GRCh38]
Chr7:94257511 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1255A>G (p.Asn419Asp) single nucleotide variant not specified [RCV004218533] Chr7:94537883 [GRCh38]
Chr7:94167195 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1202T>C (p.Leu401Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003055241] Chr7:94598826 [GRCh38]
Chr7:94228138 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.783A>G (p.Lys261=) single nucleotide variant Myoclonic dystonia 11 [RCV003055446] Chr7:94603332 [GRCh38]
Chr7:94232644 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.729G>C (p.Gln243His) single nucleotide variant Myoclonic dystonia 11 [RCV003055634] Chr7:94603386 [GRCh38]
Chr7:94232698 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.944C>T (p.Thr315Met) single nucleotide variant Myoclonic dystonia 11 [RCV002639707] Chr7:94600739 [GRCh38]
Chr7:94230051 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.381A>G (p.Thr127=) single nucleotide variant Myoclonic dystonia 11 [RCV002760731] Chr7:94628211 [GRCh38]
Chr7:94257523 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.246T>G (p.Asn82Lys) single nucleotide variant Myoclonic dystonia 11 [RCV002820759] Chr7:94628346 [GRCh38]
Chr7:94257658 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.898_925del (p.Glu300fs) deletion Myoclonic dystonia 11 [RCV002979306] Chr7:94600758..94600785 [GRCh38]
Chr7:94230070..94230097 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1151del (p.Leu384fs) deletion Inborn genetic diseases [RCV004070134]|Myoclonic dystonia 11 [RCV003037245] Chr7:94598877 [GRCh38]
Chr7:94228189 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.734_737del (p.Gln245fs) deletion Myoclonic dystonia 11 [RCV003037247] Chr7:94603378..94603381 [GRCh38]
Chr7:94232690..94232693 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.441_443del (p.Ile148del) deletion Myoclonic dystonia 11 [RCV003019190] Chr7:94623345..94623347 [GRCh38]
Chr7:94252657..94252659 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.561G>C (p.Val187=) single nucleotide variant Myoclonic dystonia 11 [RCV002886197] Chr7:94618859 [GRCh38]
Chr7:94248171 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1075G>C (p.Val359Leu) single nucleotide variant Myoclonic dystonia 11 [RCV003054745] Chr7:94598953 [GRCh38]
Chr7:94228265 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1037+19A>T single nucleotide variant Myoclonic dystonia 11 [RCV002705461] Chr7:94600627 [GRCh38]
Chr7:94229939 [GRCh37]
Chr7:7q21.3		 likely benign
NM_022900.5(CASD1):c.1192A>G (p.Thr398Ala) single nucleotide variant not specified [RCV004185331] Chr7:94537820 [GRCh38]
Chr7:94167132 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1052T>C (p.Met351Thr) single nucleotide variant Myoclonic dystonia 11 [RCV002824246] Chr7:94599709 [GRCh38]
Chr7:94229021 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.232+16G>A single nucleotide variant Myoclonic dystonia 11 [RCV003054776] Chr7:94629703 [GRCh38]
Chr7:94259015 [GRCh37]
Chr7:7q21.3		 likely benign
NM_022900.5(CASD1):c.1105C>A (p.Gln369Lys) single nucleotide variant not specified [RCV004086274] Chr7:94537733 [GRCh38]
Chr7:94167045 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.434A>G (p.Asn145Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003052969] Chr7:94623354 [GRCh38]
Chr7:94252666 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.110-10T>G single nucleotide variant Myoclonic dystonia 11 [RCV002706022] Chr7:94629851 [GRCh38]
Chr7:94259163 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.933A>C (p.Arg311Ser) single nucleotide variant Myoclonic dystonia 11 [RCV002706274] Chr7:94600750 [GRCh38]
Chr7:94230062 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.391-1G>T single nucleotide variant Myoclonic dystonia 11 [RCV003019713] Chr7:94623398 [GRCh38]
Chr7:94252710 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1253+16G>C single nucleotide variant Myoclonic dystonia 11 [RCV002912776] Chr7:94598759 [GRCh38]
Chr7:94228071 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.736T>C (p.Leu246=) single nucleotide variant Myoclonic dystonia 11 [RCV003100297] Chr7:94603379 [GRCh38]
Chr7:94232691 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1062A>G (p.Pro354=) single nucleotide variant Myoclonic dystonia 11 [RCV003054127] Chr7:94599699 [GRCh38]
Chr7:94229011 [GRCh37]
Chr7:7q21.3		 likely benign
NM_022900.5(CASD1):c.1567G>A (p.Val523Ile) single nucleotide variant not specified [RCV004119668] Chr7:94545635 [GRCh38]
Chr7:94174947 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.496A>G (p.Ile166Val) single nucleotide variant Inborn genetic diseases [RCV002826834] Chr7:94618924 [GRCh38]
Chr7:94248236 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.2343T>G (p.Phe781Leu) single nucleotide variant not specified [RCV004107641] Chr7:94555707 [GRCh38]
Chr7:94185019 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.251T>C (p.Val84Ala) single nucleotide variant not specified [RCV004161425] Chr7:94518223 [GRCh38]
Chr7:94147535 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.662+1G>C single nucleotide variant Myoclonic dystonia 11 [RCV003005907] Chr7:94618757 [GRCh38]
Chr7:94248069 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.1037+3del deletion Myoclonic dystonia 11 [RCV002928845] Chr7:94600643 [GRCh38]
Chr7:94229955 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.637T>C (p.Tyr213His) single nucleotide variant not specified [RCV004185724] Chr7:94535317 [GRCh38]
Chr7:94164629 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1064+11T>A single nucleotide variant Myoclonic dystonia 11 [RCV002852659] Chr7:94599686 [GRCh38]
Chr7:94228998 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1218T>C (p.Tyr406=) single nucleotide variant Myoclonic dystonia 11 [RCV002595502] Chr7:94598810 [GRCh38]
Chr7:94228122 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.463+17G>A single nucleotide variant Myoclonic dystonia 11 [RCV003085604] Chr7:94623308 [GRCh38]
Chr7:94252620 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.384C>T (p.Ile128=) single nucleotide variant Myoclonic dystonia 11 [RCV002664182] Chr7:94628208 [GRCh38]
Chr7:94257520 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1038-13G>A single nucleotide variant Myoclonic dystonia 11 [RCV002917248] Chr7:94599736 [GRCh38]
Chr7:94229048 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.836C>T (p.Thr279Ile) single nucleotide variant Myoclonic dystonia 11 [RCV002573657] Chr7:94600847 [GRCh38]
Chr7:94230159 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.731A>C (p.Asn244Thr) single nucleotide variant Myoclonic dystonia 11 [RCV002928390] Chr7:94603384 [GRCh38]
Chr7:94232696 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.2029G>T (p.Val677Leu) single nucleotide variant not specified [RCV004226418] Chr7:94552422 [GRCh38]
Chr7:94181734 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+16G>A single nucleotide variant Myoclonic dystonia 11 [RCV003039934] Chr7:94598759 [GRCh38]
Chr7:94228071 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.252C>T (p.Pro84=) single nucleotide variant Myoclonic dystonia 11 [RCV003023044] Chr7:94628340 [GRCh38]
Chr7:94257652 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.207G>A (p.Gly69=) single nucleotide variant Myoclonic dystonia 11 [RCV002625757] Chr7:94629744 [GRCh38]
Chr7:94259056 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.521T>A (p.Met174Lys) single nucleotide variant Myoclonic dystonia 11 [RCV002829415] Chr7:94618899 [GRCh38]
Chr7:94248211 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.466A>C (p.Ile156Leu) single nucleotide variant not specified [RCV004230654] Chr7:94533211 [GRCh38]
Chr7:94162523 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.492C>A (p.Phe164Leu) single nucleotide variant Myoclonic dystonia 11 [RCV003064817] Chr7:94618928 [GRCh38]
Chr7:94248240 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1012C>T (p.His338Tyr) single nucleotide variant not specified [RCV004219153] Chr7:94537640 [GRCh38]
Chr7:94166952 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1075G>A (p.Val359Ile) single nucleotide variant Myoclonic dystonia 11 [RCV002900504] Chr7:94598953 [GRCh38]
Chr7:94228265 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.790A>G (p.Thr264Ala) single nucleotide variant Myoclonic dystonia 11 [RCV002597753] Chr7:94603325 [GRCh38]
Chr7:94232637 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1283A>G (p.Gln428Arg) single nucleotide variant Inborn genetic diseases [RCV002878784] Chr7:94588703 [GRCh38]
Chr7:94218015 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1297+12G>T single nucleotide variant Myoclonic dystonia 11 [RCV002627779] Chr7:94588677 [GRCh38]
Chr7:94217989 [GRCh37]
Chr7:7q21.3		 likely benign
NM_022900.5(CASD1):c.25G>A (p.Gly9Ser) single nucleotide variant not specified [RCV004182986] Chr7:94510109 [GRCh38]
Chr7:94139421 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.577C>T (p.Pro193Ser) single nucleotide variant Myoclonic dystonia 11 [RCV002810063] Chr7:94618843 [GRCh38]
Chr7:94248155 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.583C>T (p.Arg195Cys) single nucleotide variant Myoclonic dystonia 11 [RCV002576818] Chr7:94618837 [GRCh38]
Chr7:94248149 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.809G>A (p.Trp270Ter) single nucleotide variant Myoclonic dystonia 11 [RCV003047235] Chr7:94603306 [GRCh38]
Chr7:94232618 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.831T>C (p.Asp277=) single nucleotide variant Myoclonic dystonia 11 [RCV002898585] Chr7:94600852 [GRCh38]
Chr7:94230164 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.133C>A (p.His45Asn) single nucleotide variant Myoclonic dystonia 11 [RCV002810861] Chr7:94629818 [GRCh38]
Chr7:94259130 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.663-19G>T single nucleotide variant Myoclonic dystonia 11 [RCV002857424] Chr7:94603471 [GRCh38]
Chr7:94232783 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.686A>T (p.Asp229Val) single nucleotide variant Myoclonic dystonia 11 [RCV002647651] Chr7:94603429 [GRCh38]
Chr7:94232741 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1297+19A>G single nucleotide variant Myoclonic dystonia 11 [RCV002633311] Chr7:94588670 [GRCh38]
Chr7:94217982 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.579A>G (p.Pro193=) single nucleotide variant Myoclonic dystonia 11 [RCV003069043] Chr7:94618841 [GRCh38]
Chr7:94248153 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.996T>C (p.Phe332=) single nucleotide variant Myoclonic dystonia 11 [RCV003071372] Chr7:94600687 [GRCh38]
Chr7:94229999 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.632T>G (p.Val211Gly) single nucleotide variant Myoclonic dystonia 11 [RCV003066753] Chr7:94618788 [GRCh38]
Chr7:94248100 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.876G>A (p.Glu292=) single nucleotide variant Myoclonic dystonia 11 [RCV002607150] Chr7:94600807 [GRCh38]
Chr7:94230119 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1298-14C>A single nucleotide variant Myoclonic dystonia 11 [RCV003069378] Chr7:94585529 [GRCh38]
Chr7:94214841 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+15_463+16del microsatellite Myoclonic dystonia 11 [RCV003069432] Chr7:94623309..94623310 [GRCh38]
Chr7:94252621..94252622 [GRCh37]
Chr7:7q21.3		 likely benign
NM_022900.5(CASD1):c.917G>A (p.Arg306Gln) single nucleotide variant not specified [RCV004077588] Chr7:94537545 [GRCh38]
Chr7:94166857 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.374A>G (p.Lys125Arg) single nucleotide variant not provided [RCV003223259] Chr7:94628218 [GRCh38]
Chr7:94257530 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.413C>T (p.Thr138Ile) single nucleotide variant not provided [RCV003223258] Chr7:94623375 [GRCh38]
Chr7:94252687 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1513T>A (p.Cys505Ser) single nucleotide variant not specified [RCV004247982] Chr7:94545581 [GRCh38]
Chr7:94174893 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.2315T>C (p.Leu772Ser) single nucleotide variant not specified [RCV004255165] Chr7:94555679 [GRCh38]
Chr7:94184991 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.934G>A (p.Asp312Asn) single nucleotide variant Myoclonic dystonia 11 [RCV003136655] Chr7:94600749 [GRCh38]
Chr7:94230061 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1013T>C (p.Ile338Thr) single nucleotide variant Myoclonic dystonia 11 [RCV003136656] Chr7:94600670 [GRCh38]
Chr7:94229982 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.907C>T (p.Pro303Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003136657] Chr7:94600776 [GRCh38]
Chr7:94230088 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs) deletion Myoclonic dystonia 11 [RCV003134001] Chr7:94599699..94599703 [GRCh38]
Chr7:94229011..94229015 [GRCh37]
Chr7:7q21.3		 pathogenic|likely pathogenic
NM_003919.3(SGCE):c.521T>C (p.Met174Thr) single nucleotide variant Myoclonic dystonia 11 [RCV003136658] Chr7:94618899 [GRCh38]
Chr7:94248211 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.589A>T (p.Asn197Tyr) single nucleotide variant Inborn genetic diseases [RCV003205509] Chr7:94618831 [GRCh38]
Chr7:94248143 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.847del (p.Ser283fs) deletion not provided [RCV003327184] Chr7:94600836 [GRCh38]
Chr7:94230148 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.463+695del deletion not provided [RCV003327185] Chr7:94622630 [GRCh38]
Chr7:94251942 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.880A>T (p.Ile294Phe) single nucleotide variant Myoclonic dystonia 11 [RCV003340743] Chr7:94600803 [GRCh38]
Chr7:94230115 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.464-10C>G single nucleotide variant not specified [RCV003331696] Chr7:94618966 [GRCh38]
Chr7:94248278 [GRCh37]
Chr7:7q21.3		 likely benign
NM_022900.5(CASD1):c.1171A>G (p.Met391Val) single nucleotide variant not specified [RCV004357090] Chr7:94537799 [GRCh38]
Chr7:94167111 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1630A>G (p.Asn544Asp) single nucleotide variant not specified [RCV004349207] Chr7:94545698 [GRCh38]
Chr7:94175010 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.128A>G (p.Lys43Arg) single nucleotide variant Inborn genetic diseases [RCV003374508] Chr7:94629823 [GRCh38]
Chr7:94259135 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.639dup (p.Pro214fs) duplication Myoclonic dystonia 11 [RCV003479592] Chr7:94618780..94618781 [GRCh38]
Chr7:94248092..94248093 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.837A>T (p.Thr279=) single nucleotide variant Myoclonic dystonia 11 [RCV003505496] Chr7:94600846 [GRCh38]
Chr7:94230158 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.306A>G (p.Arg102=) single nucleotide variant Myoclonic dystonia 11 [RCV003505791] Chr7:94628286 [GRCh38]
Chr7:94257598 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.252_253del (p.Ile85fs) deletion Myoclonic dystonia 11 [RCV003505792] Chr7:94628339..94628340 [GRCh38]
Chr7:94257651..94257652 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.390+4A>G single nucleotide variant Myoclonic dystonia 11 [RCV003506222] Chr7:94628198 [GRCh38]
Chr7:94257510 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.828T>G (p.Val276=) single nucleotide variant Myoclonic dystonia 11 [RCV003505840] Chr7:94600855 [GRCh38]
Chr7:94230167 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.825+12T>C single nucleotide variant Myoclonic dystonia 11 [RCV003506115] Chr7:94603278 [GRCh38]
Chr7:94232590 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1265A>C (p.His422Pro) single nucleotide variant Myoclonic dystonia 11 [RCV003506211] Chr7:94588721 [GRCh38]
Chr7:94218033 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.770C>T (p.Thr257Ile) single nucleotide variant Myoclonic dystonia 11 [RCV003504728] Chr7:94603345 [GRCh38]
Chr7:94232657 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+20G>T single nucleotide variant Myoclonic dystonia 11 [RCV003505922] Chr7:94623305 [GRCh38]
Chr7:94252617 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.410G>C (p.Arg137Pro) single nucleotide variant Myoclonic dystonia 11 [RCV003506131] Chr7:94623378 [GRCh38]
Chr7:94252690 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.390+2T>C single nucleotide variant Myoclonic dystonia 11 [RCV003504698] Chr7:94628200 [GRCh38]
Chr7:94257512 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.304C>A (p.Arg102=) single nucleotide variant Myoclonic dystonia 11 [RCV003505053] Chr7:94628288 [GRCh38]
Chr7:94257600 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.742dup (p.Cys248fs) duplication Myoclonic dystonia 11 [RCV003505959] Chr7:94603372..94603373 [GRCh38]
Chr7:94232684..94232685 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1042_1043del (p.Lys348fs) deletion Myoclonic dystonia 11 [RCV003505960] Chr7:94599718..94599719 [GRCh38]
Chr7:94229030..94229031 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.464-14T>C single nucleotide variant Myoclonic dystonia 11 [RCV003506267] Chr7:94618970 [GRCh38]
Chr7:94248282 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.464-20C>T single nucleotide variant Myoclonic dystonia 11 [RCV003504752] Chr7:94618976 [GRCh38]
Chr7:94248288 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.749A>G (p.Gln250Arg) single nucleotide variant Myoclonic dystonia 11 [RCV003505354] Chr7:94603366 [GRCh38]
Chr7:94232678 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.133C>T (p.His45Tyr) single nucleotide variant Myoclonic dystonia 11 [RCV003505361] Chr7:94629818 [GRCh38]
Chr7:94259130 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.353dup (p.Thr119fs) duplication Myoclonic dystonia 11 [RCV003506034] Chr7:94628238..94628239 [GRCh38]
Chr7:94257550..94257551 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1107G>A (p.Lys369=) single nucleotide variant Myoclonic dystonia 11 [RCV003506069] Chr7:94598921 [GRCh38]
Chr7:94228233 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1206C>T (p.His402=) single nucleotide variant not provided [RCV003423647] Chr7:94598822 [GRCh38]
Chr7:94228134 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.363A>T (p.Glu121Asp) single nucleotide variant SGCE-related condition [RCV003399466] Chr7:94628229 [GRCh38]
Chr7:94257541 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1234C>T (p.Pro412Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003506671] Chr7:94598794 [GRCh38]
Chr7:94228106 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+12A>T single nucleotide variant Myoclonic dystonia 11 [RCV003824645] Chr7:94623313 [GRCh38]
Chr7:94252625 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.868C>G (p.Arg290Gly) single nucleotide variant Myoclonic dystonia 11 [RCV003506461] Chr7:94600815 [GRCh38]
Chr7:94230127 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.390+10A>G single nucleotide variant Myoclonic dystonia 11 [RCV003506367] Chr7:94628192 [GRCh38]
Chr7:94257504 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1024C>T (p.Arg342Ter) single nucleotide variant Myoclonic dystonia 11 [RCV003880423] Chr7:94600659 [GRCh38]
Chr7:94229971 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1157C>T (p.Thr386Met) single nucleotide variant Myoclonic dystonia 11 [RCV003506682] Chr7:94598871 [GRCh38]
Chr7:94228183 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.380C>G (p.Thr127Arg) single nucleotide variant Myoclonic dystonia 11 [RCV003880343] Chr7:94628212 [GRCh38]
Chr7:94257524 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.822A>T (p.Ser274=) single nucleotide variant Myoclonic dystonia 11 [RCV003506544] Chr7:94603293 [GRCh38]
Chr7:94232605 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.110-15C>T single nucleotide variant Myoclonic dystonia 11 [RCV003506331] Chr7:94629856 [GRCh38]
Chr7:94259168 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1295C>T (p.Thr432Ile) single nucleotide variant Myoclonic dystonia 11 [RCV003506635] Chr7:94588691 [GRCh38]
Chr7:94218003 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1038-12T>C single nucleotide variant Myoclonic dystonia 11 [RCV003506452] Chr7:94599735 [GRCh38]
Chr7:94229047 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.390+12C>G single nucleotide variant Myoclonic dystonia 11 [RCV003811658] Chr7:94628190 [GRCh38]
Chr7:94257502 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1072C>G (p.Leu358Val) single nucleotide variant Myoclonic dystonia 11 [RCV003616079] Chr7:94598956 [GRCh38]
Chr7:94228268 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.463+13A>T single nucleotide variant Myoclonic dystonia 11 [RCV003616203] Chr7:94623312 [GRCh38]
Chr7:94252624 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.896dup (p.Glu300fs) duplication Myoclonic dystonia 11 [RCV003616775] Chr7:94600786..94600787 [GRCh38]
Chr7:94230098..94230099 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.1156A>G (p.Thr386Ala) single nucleotide variant Myoclonic dystonia 11 [RCV003617048] Chr7:94598872 [GRCh38]
Chr7:94228184 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.172T>A (p.Phe58Ile) single nucleotide variant Myoclonic dystonia 11 [RCV003616954] Chr7:94629779 [GRCh38]
Chr7:94259091 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.998T>C (p.Leu333Pro) single nucleotide variant Myoclonic dystonia 11 [RCV003617260] Chr7:94600685 [GRCh38]
Chr7:94229997 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.636A>G (p.Pro212=) single nucleotide variant Myoclonic dystonia 11 [RCV003816323] Chr7:94618784 [GRCh38]
Chr7:94248096 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.1064+19G>C single nucleotide variant Myoclonic dystonia 11 [RCV003616329] Chr7:94599678 [GRCh38]
Chr7:94228990 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.172T>C (p.Phe58Leu) single nucleotide variant Myoclonic dystonia 11 [RCV003616353] Chr7:94629779 [GRCh38]
Chr7:94259091 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1155A>G (p.Ser385=) single nucleotide variant Myoclonic dystonia 11 [RCV003856519] Chr7:94598873 [GRCh38]
Chr7:94228185 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1178T>C (p.Val393Ala) single nucleotide variant Myoclonic dystonia 11 [RCV003615719] Chr7:94598850 [GRCh38]
Chr7:94228162 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.826-4T>G single nucleotide variant Myoclonic dystonia 11 [RCV003615771] Chr7:94600861 [GRCh38]
Chr7:94230173 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.263A>G (p.Asn88Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003615735] Chr7:94628329 [GRCh38]
Chr7:94257641 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.693G>C (p.Pro231=) single nucleotide variant Myoclonic dystonia 11 [RCV003616141] Chr7:94603422 [GRCh38]
Chr7:94232734 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1217A>G (p.Tyr406Cys) single nucleotide variant Myoclonic dystonia 11 [RCV003617248] Chr7:94598811 [GRCh38]
Chr7:94228123 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.825+17T>C single nucleotide variant Myoclonic dystonia 11 [RCV003616095] Chr7:94603273 [GRCh38]
Chr7:94232585 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.677T>A (p.Val226Asp) single nucleotide variant Myoclonus-dystonia syndrome [RCV003994737] Chr7:94603438 [GRCh38]
Chr7:94232750 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+14T>C single nucleotide variant Myoclonic dystonia 11 [RCV003616324] Chr7:94598761 [GRCh38]
Chr7:94228073 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.722A>G (p.Asn241Ser) single nucleotide variant Myoclonic dystonia 11 [RCV003616609] Chr7:94603393 [GRCh38]
Chr7:94232705 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.852C>G (p.Thr284=) single nucleotide variant Myoclonic dystonia 11 [RCV003616630] Chr7:94600831 [GRCh38]
Chr7:94230143 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.235G>T (p.Glu79Ter) single nucleotide variant Myoclonic dystonia 11 [RCV003616698] Chr7:94628357 [GRCh38]
Chr7:94257669 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.757G>A (p.Glu253Lys) single nucleotide variant Myoclonic dystonia 11 [RCV003616783] Chr7:94603358 [GRCh38]
Chr7:94232670 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.301C>A (p.Leu101Ile) single nucleotide variant Myoclonic dystonia 11 [RCV003616108] Chr7:94628291 [GRCh38]
Chr7:94257603 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1064+14T>C single nucleotide variant Myoclonic dystonia 11 [RCV003617284] Chr7:94599683 [GRCh38]
Chr7:94228995 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.257C>G (p.Thr86Arg) single nucleotide variant Myoclonic dystonia 11 [RCV003616346] Chr7:94628335 [GRCh38]
Chr7:94257647 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.285A>G (p.Pro95=) single nucleotide variant Myoclonic dystonia 11 [RCV003616255] Chr7:94628307 [GRCh38]
Chr7:94257619 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1196C>G (p.Pro399Arg) single nucleotide variant Myoclonic dystonia 11 [RCV003616734] Chr7:94598832 [GRCh38]
Chr7:94228144 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.513A>G (p.Val171=) single nucleotide variant Myoclonic dystonia 11 [RCV003616838] Chr7:94618907 [GRCh38]
Chr7:94248219 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.643A>G (p.Ile215Val) single nucleotide variant Myoclonic dystonia 11 [RCV003615755] Chr7:94618777 [GRCh38]
Chr7:94248089 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1245A>G (p.Gln415=) single nucleotide variant Myoclonic dystonia 11 [RCV003616754] Chr7:94598783 [GRCh38]
Chr7:94228095 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.324A>G (p.Pro108=) single nucleotide variant Myoclonic dystonia 11 [RCV003616794] Chr7:94628268 [GRCh38]
Chr7:94257580 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.538C>A (p.Leu180Ile) single nucleotide variant Myoclonic dystonia 11 [RCV003617285] Chr7:94618882 [GRCh38]
Chr7:94248194 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.557C>T (p.Ala186Val) single nucleotide variant Myoclonic dystonia 11 [RCV003814103] Chr7:94618863 [GRCh38]
Chr7:94248175 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.110-1G>T single nucleotide variant Myoclonic dystonia 11 [RCV003616478] Chr7:94629842 [GRCh38]
Chr7:94259154 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_003919.3(SGCE):c.232+1G>C single nucleotide variant Myoclonic dystonia 11 [RCV003616507] Chr7:94629718 [GRCh38]
Chr7:94259030 [GRCh37]
Chr7:7q21.3		 pathogenic
NM_003919.3(SGCE):c.139G>T (p.Asp47Tyr) single nucleotide variant Myoclonic dystonia 11 [RCV003616607] Chr7:94629812 [GRCh38]
Chr7:94259124 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.557C>G (p.Ala186Gly) single nucleotide variant Myoclonic dystonia 11 [RCV003615629] Chr7:94618863 [GRCh38]
Chr7:94248175 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.825+12T>G single nucleotide variant Myoclonic dystonia 11 [RCV003616863] Chr7:94603278 [GRCh38]
Chr7:94232590 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.662+19C>T single nucleotide variant Myoclonic dystonia 11 [RCV003615984] Chr7:94618739 [GRCh38]
Chr7:94248051 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.232+18A>G single nucleotide variant Myoclonic dystonia 11 [RCV003617233] Chr7:94629701 [GRCh38]
Chr7:94259013 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1294A>G (p.Thr432Ala) single nucleotide variant Myoclonic dystonia 11 [RCV003822120] Chr7:94588692 [GRCh38]
Chr7:94218004 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.484G>A (p.Ala162Thr) single nucleotide variant Myoclonic dystonia 11 [RCV003870731] Chr7:94618936 [GRCh38]
Chr7:94248248 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+766_1253+767dup duplication SGCE-related condition [RCV003941466] Chr7:94598007..94598008 [GRCh38]
Chr7:94227319..94227320 [GRCh37]
Chr7:7q21.3		 benign
NM_003919.3(SGCE):c.246T>C (p.Asn82=) single nucleotide variant Myoclonic dystonia 11 [RCV003853147] Chr7:94628346 [GRCh38]
Chr7:94257658 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.890A>G (p.Asp297Gly) single nucleotide variant Myoclonic dystonia 11 [RCV003845071] Chr7:94600793 [GRCh38]
Chr7:94230105 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.1253+766_1253+767del deletion SGCE-related condition [RCV003981906] Chr7:94598008..94598009 [GRCh38]
Chr7:94227320..94227321 [GRCh37]
Chr7:7q21.3		 likely benign
NM_003919.3(SGCE):c.1163del (p.Pro388fs) deletion Myoclonic dystonia 11 [RCV003988925] Chr7:94598865 [GRCh38]
Chr7:94228177 [GRCh37]
Chr7:7q21.3		 likely pathogenic
NM_022900.5(CASD1):c.1817T>C (p.Val606Ala) single nucleotide variant not specified [RCV004427316] Chr7:94551339 [GRCh38]
Chr7:94180651 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1579G>C (p.Val527Leu) single nucleotide variant not specified [RCV004427315] Chr7:94545647 [GRCh38]
Chr7:94174959 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1984A>G (p.Lys662Glu) single nucleotide variant not specified [RCV004427320] Chr7:94552377 [GRCh38]
Chr7:94181689 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.2228T>C (p.Phe743Ser) single nucleotide variant not specified [RCV004427321] Chr7:94555592 [GRCh38]
Chr7:94184904 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1220T>C (p.Ile407Thr) single nucleotide variant not specified [RCV004427314] Chr7:94537848 [GRCh38]
Chr7:94167160 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1868G>A (p.Arg623His) single nucleotide variant not specified [RCV004427318] Chr7:94551390 [GRCh38]
Chr7:94180702 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_022900.5(CASD1):c.1949C>T (p.Ser650Phe) single nucleotide variant not specified [RCV004427319] Chr7:94551471 [GRCh38]
Chr7:94180783 [GRCh37]
Chr7:7q21.3		 uncertain significance
NM_003919.3(SGCE):c.868C>T (p.Arg290Cys) single nucleotide variant Inborn genetic diseases [RCV004455873] Chr7:94600815 [GRCh38]
Chr7:94230127 [GRCh37]
Chr7:7q21.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:782
Count of miRNA genes:524
Interacting mature miRNAs:579
Transcripts:ENST00000297273, ENST00000417387, ENST00000443644, ENST00000447923, ENST00000471944, ENST00000489196
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
STS-R16109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,182,866 - 94,183,092UniSTSGRCh37
GRCh37794,182,861 - 94,182,999UniSTSGRCh37
Build 36794,020,797 - 94,020,935RGDNCBI36
Celera788,881,100 - 88,881,326UniSTS
Celera788,881,095 - 88,881,233RGD
Cytogenetic Map7q21.3UniSTS
HuRef788,790,229 - 88,790,367UniSTS
HuRef788,790,234 - 88,790,460UniSTS
CRA_TCAGchr7v2793,512,013 - 93,512,239UniSTS
CRA_TCAGchr7v2793,512,008 - 93,512,146UniSTS
GeneMap99-GB4 RH Map7490.21UniSTS
NCBI RH Map71017.9UniSTS
D7S1434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,150,580 - 94,150,767UniSTSGRCh37
Build 36793,988,516 - 93,988,703RGDNCBI36
Celera788,848,820 - 88,849,007RGD
Cytogenetic Map7q21.3UniSTS
HuRef788,757,960 - 88,758,147UniSTS
CRA_TCAGchr7v2793,479,733 - 93,479,920UniSTS
G54776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,164,787 - 94,165,066UniSTSGRCh37
Celera788,863,026 - 88,863,305UniSTS
Cytogenetic Map7q21.3UniSTS
HuRef788,772,163 - 88,772,442UniSTS
CRA_TCAGchr7v2793,493,939 - 93,494,218UniSTS
STS-R16109  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q21.3UniSTS
GeneMap99-GB4 RH Map7506.0UniSTS
NCBI RH Map71017.9UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1897 1480 1314 216 996 83 2541 1073 3273 255 1295 1499 141 1075 1559 3
Low 541 1399 412 408 842 382 1815 1123 460 163 165 113 32 1 129 1229 3 2
Below cutoff 112 113 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001363426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007060140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC002528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC069292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF355594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF397424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297273   ⟹   ENSP00000297273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl794,509,809 - 94,557,019 (+)Ensembl
RefSeq Acc Id: ENST00000417387   ⟹   ENSP00000402708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl794,510,071 - 94,528,250 (+)Ensembl
RefSeq Acc Id: ENST00000443644   ⟹   ENSP00000389718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl794,510,068 - 94,535,522 (+)Ensembl
RefSeq Acc Id: ENST00000447923   ⟹   ENSP00000396261
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl794,509,219 - 94,533,758 (+)Ensembl
RefSeq Acc Id: ENST00000471944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl794,551,733 - 94,556,966 (+)Ensembl
RefSeq Acc Id: ENST00000489196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl794,553,852 - 94,556,966 (+)Ensembl
RefSeq Acc Id: NM_001363426   ⟹   NP_001350355
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,557,019 (+)NCBI
T2T-CHM13v2.0795,745,768 - 95,792,979 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363427   ⟹   NP_001350356
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,557,019 (+)NCBI
T2T-CHM13v2.0795,745,768 - 95,792,979 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363428   ⟹   NP_001350357
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,557,019 (+)NCBI
T2T-CHM13v2.0795,745,768 - 95,792,979 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022900   ⟹   NP_075051
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,557,019 (+)NCBI
GRCh37794,138,838 - 94,186,331 (+)NCBI
Build 36793,977,120 - 94,024,216 (+)NCBI Archive
Celera788,837,411 - 88,884,573 (+)RGD
HuRef788,746,553 - 88,793,707 (+)ENTREZGENE
CHM1_1794,069,254 - 94,116,405 (+)NCBI
T2T-CHM13v2.0795,745,768 - 95,792,979 (+)NCBI
CRA_TCAGchr7v2793,468,325 - 93,515,486 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006716093   ⟹   XP_006716156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,543,422 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516495   ⟹   XP_011514797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,634,172 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054358847   ⟹   XP_054214822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0795,745,768 - 95,875,261 (+)NCBI
RefSeq Acc Id: XM_054358848   ⟹   XP_054214823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0795,745,768 - 95,779,382 (+)NCBI
RefSeq Acc Id: XR_007060138
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,634,172 (+)NCBI
RefSeq Acc Id: XR_007060139
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,634,172 (+)NCBI
RefSeq Acc Id: XR_007060140
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,809 - 94,634,172 (+)NCBI
RefSeq Acc Id: XR_008487736
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0795,745,768 - 95,875,261 (+)NCBI
RefSeq Acc Id: XR_008487737
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0795,745,768 - 95,875,261 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_075051   ⟸   NM_022900
- Peptide Label: isoform 1
- UniProtKB: Q9H6T9 (UniProtKB/Swiss-Prot),   Q6P4R4 (UniProtKB/Swiss-Prot),   Q3LIE2 (UniProtKB/Swiss-Prot),   O14574 (UniProtKB/Swiss-Prot),   B3KW13 (UniProtKB/Swiss-Prot),   Q9H770 (UniProtKB/Swiss-Prot),   Q96PB1 (UniProtKB/Swiss-Prot),   Q8WZ77 (UniProtKB/TrEMBL),   B2RAS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716156   ⟸   XM_006716093
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011514797   ⟸   XM_011516495
- Peptide Label: isoform X1
- UniProtKB: B2RAS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350356   ⟸   NM_001363427
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001350355   ⟸   NM_001363426
- Peptide Label: isoform 2
- UniProtKB: B2RAS9 (UniProtKB/TrEMBL),   Q8WZ77 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350357   ⟸   NM_001363428
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000297273   ⟸   ENST00000297273
RefSeq Acc Id: ENSP00000402708   ⟸   ENST00000417387
RefSeq Acc Id: ENSP00000389718   ⟸   ENST00000443644
RefSeq Acc Id: ENSP00000396261   ⟸   ENST00000447923
RefSeq Acc Id: XP_054214822   ⟸   XM_054358847
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214823   ⟸   XM_054358848
- Peptide Label: isoform X2
Protein Domains
Cas1p 10 TM acyl transferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96PB1-F1-model_v2 AlphaFold Q96PB1 1-797 view protein structure

Promoters
RGD ID:6805543
Promoter ID:HG_KWN:58638
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000265739,   ENST00000394380,   OTTHUMT00000255216,   OTTHUMT00000340766,   OTTHUMT00000340767,   OTTHUMT00000340768,   UC003UNH.2,   UC003UNJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36793,976,926 - 93,977,442 (+)MPROMDB
RGD ID:7211101
Promoter ID:EPDNEW_H11296
Type:initiation region
Name:CASD1_1
Description:CAS1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11297  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,509,847 - 94,509,907EPDNEW
RGD ID:7211103
Promoter ID:EPDNEW_H11297
Type:initiation region
Name:CASD1_2
Description:CAS1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11296  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38794,510,060 - 94,510,120EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16014 AgrOrtholog
COSMIC CASD1 COSMIC
Ensembl Genes ENSG00000127995 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297273 ENTREZGENE
  ENST00000297273.9 UniProtKB/Swiss-Prot
  ENST00000443644.1 UniProtKB/TrEMBL
  ENST00000447923.5 UniProtKB/TrEMBL
GTEx ENSG00000127995 GTEx
HGNC ID HGNC:16014 ENTREZGENE
Human Proteome Map CASD1 Human Proteome Map
InterPro Cas1_AcylTrans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64921 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 64921 ENTREZGENE
OMIM 611686 OMIM
PANTHER N-ACETYLNEURAMINATE 9-O-ACETYLTRANSFERASE UniProtKB/Swiss-Prot
  N-ACETYLNEURAMINATE 9-O-ACETYLTRANSFERASE UniProtKB/Swiss-Prot
  N-ACETYLNEURAMINATE 9-O-ACETYLTRANSFERASE UniProtKB/TrEMBL
  N-ACETYLNEURAMINATE 9-O-ACETYLTRANSFERASE UniProtKB/TrEMBL
Pfam Cas1_AcylT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485408 PharmGKB
Superfamily-SCOP SSF47954 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RAS9 ENTREZGENE, UniProtKB/TrEMBL
  B3KW13 ENTREZGENE
  C9JDR3_HUMAN UniProtKB/TrEMBL
  CASD1_HUMAN UniProtKB/Swiss-Prot
  F8WDQ7_HUMAN UniProtKB/TrEMBL
  O14574 ENTREZGENE
  Q3LIE2 ENTREZGENE
  Q6P4R4 ENTREZGENE
  Q8WZ77 ENTREZGENE, UniProtKB/TrEMBL
  Q96PB1 ENTREZGENE
  Q9H6T9 ENTREZGENE
  Q9H770 ENTREZGENE
UniProt Secondary B3KW13 UniProtKB/Swiss-Prot
  O14574 UniProtKB/Swiss-Prot
  Q3LIE2 UniProtKB/Swiss-Prot
  Q6P4R4 UniProtKB/Swiss-Prot
  Q9H6T9 UniProtKB/Swiss-Prot
  Q9H770 UniProtKB/Swiss-Prot