LRRC37A2 (leucine rich repeat containing 37 member A2) - Rat Genome Database

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Gene: LRRC37A2 (leucine rich repeat containing 37 member A2) Homo sapiens
Analyze
Symbol: LRRC37A2
Name: leucine rich repeat containing 37 member A2
RGD ID: 1602023
HGNC Page HGNC:32404
Description: Predicted to enable ATP binding activity; ATP hydrolysis activity; and metal ion binding activity. Predicted to be involved in Golgi to plasma membrane protein transport; SNARE complex disassembly; and intra-Golgi vesicle-mediated transport. Predicted to be located in Golgi stack and membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: c114 SLIT-like testicular protein; FLJ45049; leucine rich repeat containing 37, member A2; leucine-rich repeat containing 37 member A2; leucine-rich repeat-containing protein 37A2; LRRC37
RGD Orthologs
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: LRRC37A6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381746,372,792 - 47,049,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,511,508 - 46,556,910 (+)EnsemblGRCh38hg38GRCh38
GRCh371744,589,834 - 44,633,014 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361741,945,392 - 41,988,330 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map17q21.31-q21.32NCBI
HuRef1758,308,982 - 58,310,328 (-)NCBIHuRef
HuRef1758,292,353 - 58,303,948 (-)NCBIHuRef
CHM1_11744,654,469 - 44,697,431 (+)NCBICHM1_1
T2T-CHM13v2.01747,234,775 - 47,910,589 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
Golgi stack  (IEA)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16625196   PMID:16751776   PMID:22419166   PMID:23064749   PMID:29507755   PMID:30824926   PMID:32707033   PMID:33961781  


Genomics

Comparative Map Data
LRRC37A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381746,372,792 - 47,049,128 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1746,511,508 - 46,556,910 (+)EnsemblGRCh38hg38GRCh38
GRCh371744,589,834 - 44,633,014 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361741,945,392 - 41,988,330 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map17q21.31-q21.32NCBI
HuRef1758,308,982 - 58,310,328 (-)NCBIHuRef
HuRef1758,292,353 - 58,303,948 (-)NCBIHuRef
CHM1_11744,654,469 - 44,697,431 (+)NCBICHM1_1
T2T-CHM13v2.01747,234,775 - 47,910,589 (+)NCBIT2T-CHM13v2.0
LOC103243271
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11659,592,891 - 59,634,813 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607730,313,590 - 30,355,484 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in LRRC37A2
612 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_004287.5(GOSR2):c.*1115G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000367699] Chr17:46939875 [GRCh38]
Chr17:45017241 [GRCh37]
Chr17:17q21.32
benign
GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1 copy number loss See cases [RCV000050262] Chr17:46111075..46661960 [GRCh38]
Chr17:44223908..44694283 [GRCh37]
Chr17:41544224..42049599 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1 copy number loss See cases [RCV000050976] Chr17:46176989..46742963 [GRCh38]
Chr17:44305975..44820329 [GRCh37]
Chr17:41610132..42175497 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1 copy number loss See cases [RCV000050643] Chr17:45629520..46661960 [GRCh38]
Chr17:43706886..44694283 [GRCh37]
Chr17:41062669..42049599 [NCBI36]
Chr17:17q21.31
pathogenic
GRCh38/hg38 17q21.31(chr17:46444520-46742963)x1 copy number loss See cases [RCV000051036] Chr17:46444520..46742963 [GRCh38]
Chr17:44485771..44820329 [GRCh37]
Chr17:41841187..42175497 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q21.31(chr17:46061147-46661960)x1 copy number loss See cases [RCV000051174] Chr17:46061147..46661960 [GRCh38]
Chr17:44138513..44694283 [GRCh37]
Chr17:41494331..42049599 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33
pathogenic
GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3 copy number gain See cases [RCV000053135] Chr17:46444520..46990403 [GRCh38]
Chr17:44485771..45067769 [GRCh37]
Chr17:41841187..42422768 [NCBI36]
Chr17:17q21.31-21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3746A>C (p.Lys1249Thr) single nucleotide variant Inborn genetic diseases [RCV003174111] Chr17:46548885 [GRCh38]
Chr17:44626251 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) single nucleotide variant Inborn genetic diseases [RCV002390493]|Progressive myoclonic epilepsy [RCV000364005]|not provided [RCV000858536] Chr17:46931152 [GRCh38]
Chr17:45008518 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.248C>T (p.Ala83Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001348647] Chr17:46932111 [GRCh38]
Chr17:45009477 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh38/hg38 17q21.31(chr17:46273727-46661960)x1 copy number loss See cases [RCV000133806] Chr17:46273727..46661960 [GRCh38]
Chr17:44351093..44694283 [GRCh37]
Chr17:41706870..42049599 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46444520-46681549)x1 copy number loss See cases [RCV000136340] Chr17:46444520..46681549 [GRCh38]
Chr17:44485800..44758915 [GRCh37]
Chr17:41841216..42114094 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46247856-46681550)x1 copy number loss See cases [RCV000136200] Chr17:46247856..46681550 [GRCh38]
Chr17:44325222..44758916 [GRCh37]
Chr17:41680999..42114095 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46130519-46661960)x1 copy number loss See cases [RCV000136001] Chr17:46130519..46661960 [GRCh38]
Chr17:44223908..44694311 [GRCh37]
Chr17:41563662..42049627 [NCBI36]
Chr17:17q21.31
benign|likely benign|conflicting data from submitters
GRCh38/hg38 17q21.31(chr17:46273727-46661960)x3 copy number gain See cases [RCV000136988] Chr17:46273727..46661960 [GRCh38]
Chr17:44351093..44628150 [GRCh37]
Chr17:41706870..41983466 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46304332-46685375)x3 copy number gain See cases [RCV000137084] Chr17:46304332..46685375 [GRCh38]
Chr17:44381698..44762741 [GRCh37]
Chr17:41737475..42117921 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46347056-46661960)x1 copy number loss See cases [RCV000137087] Chr17:46347056..46661960 [GRCh38]
Chr17:44424422..44528251 [GRCh37]
Chr17:41780178..41883561 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3 copy number gain See cases [RCV000138747] Chr17:46161863..46661960 [GRCh38]
Chr17:44305975..44597336 [GRCh37]
Chr17:41595006..41952652 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46297929-46710337)x3 copy number gain See cases [RCV000138774] Chr17:46297929..46710337 [GRCh38]
Chr17:44375295..44787703 [GRCh37]
Chr17:41731072..42142886 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46273730-46661960)x1 copy number loss See cases [RCV000138430] Chr17:46273730..46661960 [GRCh38]
Chr17:44351096..44694311 [GRCh37]
Chr17:41706873..42049627 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1 copy number loss See cases [RCV000139406] Chr17:45579327..46661960 [GRCh38]
Chr17:43656693..44694311 [GRCh37]
Chr17:41012476..42049627 [NCBI36]
Chr17:17q21.31
pathogenic
GRCh38/hg38 17q21.31(chr17:46219761-46661960)x3 copy number gain See cases [RCV000139293] Chr17:46219761..46661960 [GRCh38]
Chr17:44305975..44544908 [GRCh37]
Chr17:41652904..41900224 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1 copy number loss See cases [RCV000139073] Chr17:46130519..46799417 [GRCh38]
Chr17:44223908..44873614 [GRCh37]
Chr17:41563662..42231947 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1 copy number loss See cases [RCV000138915] Chr17:46061149..46661960 [GRCh38]
Chr17:44138515..44694311 [GRCh37]
Chr17:41494333..42049627 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46348112-46661960)x3 copy number gain See cases [RCV000139492] Chr17:46348112..46661960 [GRCh38]
Chr17:44425478..44544908 [GRCh37]
Chr17:41781234..41900224 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3 copy number gain See cases [RCV000139676] Chr17:46322082..46661960 [GRCh38]
Chr17:44399448..44544908 [GRCh37]
Chr17:41755213..41900224 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3 copy number gain See cases [RCV000139692] Chr17:46322082..46661960 [GRCh38]
Chr17:44399448..44725843 [GRCh37]
Chr17:41755213..42081159 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46322082-46685236)x1 copy number loss See cases [RCV000139705] Chr17:46322082..46685236 [GRCh38]
Chr17:44399448..44762602 [GRCh37]
Chr17:41755213..42117782 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1 copy number loss See cases [RCV000141505] Chr17:46176989..46661960 [GRCh38]
Chr17:44305975..44694283 [GRCh37]
Chr17:41610132..42049599 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46133397-46710558)x3 copy number gain See cases [RCV000141569] Chr17:46133397..46710558 [GRCh38]
Chr17:44223908..44787924 [GRCh37]
Chr17:41566540..42143107 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46130611-46661960)x3 copy number gain See cases [RCV000142378] Chr17:46130611..46661960 [GRCh38]
Chr17:44223908..44694283 [GRCh37]
Chr17:41563754..42049599 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3 copy number gain See cases [RCV000142621] Chr17:46130519..46662118 [GRCh38]
Chr17:44207885..44739337 [GRCh37]
Chr17:41563662..42049627 [NCBI36]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46444520-46661960)x3 copy number gain See cases [RCV000142644] Chr17:46444520..46661960 [GRCh38]
Chr17:44485771..44694283 [GRCh37]
Chr17:41841187..42049599 [NCBI36]
Chr17:17q21.31
benign
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1 copy number loss See cases [RCV000148199] Chr17:46111075..46661960 [GRCh38]
Chr17:44223908..44694283 [GRCh37]
Chr17:41544224..42049599 [NCBI36]
Chr17:17q21.31
benign
NM_004287.5(GOSR2):c.249G>T (p.Ala83=) single nucleotide variant not specified [RCV000428421] Chr17:46932112 [GRCh38]
Chr17:45009478 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.29+8C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001088528]|Progressive myoclonic epilepsy type 6 [RCV001124181]|not provided [RCV000725870]|not specified [RCV000125252] Chr17:46923229 [GRCh38]
Chr17:45000595 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.203+3A>G single nucleotide variant Inborn genetic diseases [RCV002313046]|Progressive myoclonic epilepsy [RCV000794248]|not specified [RCV000430511] Chr17:46931210 [GRCh38]
Chr17:45008576 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_004287.5(GOSR2):c.-22C>G single nucleotide variant not specified [RCV000600820] Chr17:46923171 [GRCh38]
Chr17:45000537 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*1519T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000259803]|not provided [RCV001690072] Chr17:46940279 [GRCh38]
Chr17:45017645 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.*1703A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000265878] Chr17:46940463 [GRCh38]
Chr17:45017829 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.-53T>A single nucleotide variant Tetraamelia, autosomal recessive [RCV000281958] Chr17:46818650 [GRCh38]
Chr17:44896016 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) single nucleotide variant Inborn genetic diseases [RCV002336496]|Progressive myoclonic epilepsy [RCV000461893]|Progressive myoclonic epilepsy type 6 [RCV002485269]|not provided [RCV000187616] Chr17:46938630 [GRCh38]
Chr17:45015996 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.447T>C (p.Asp149=) single nucleotide variant Progressive myoclonic epilepsy [RCV001413887]|not provided [RCV000598129] Chr17:46935139 [GRCh38]
Chr17:45012505 [GRCh37]
Chr17:17q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.149G>A (p.Arg50His) single nucleotide variant Progressive myoclonic epilepsy [RCV001204969]|not provided [RCV000519596] Chr17:46931153 [GRCh38]
Chr17:45008519 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*18G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000279102]|not specified [RCV000423780] Chr17:46938778 [GRCh38]
Chr17:45016144 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_004287.5(GOSR2):c.336+1G>A single nucleotide variant Inborn genetic diseases [RCV002317685]|Muscular dystrophy, congenital, with or without seizures [RCV002478670]|Progressive myoclonic epilepsy [RCV000703812]|Progressive myoclonic epilepsy type 6 [RCV000194518]|not provided [RCV000439078] Chr17:46932200 [GRCh38]
Chr17:45009566 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV000475719] Chr17:46929567 [GRCh38]
Chr17:45006933 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) duplication GOSR2-Related Disorders [RCV003235216]|GOSR2-related condition [RCV003960021]|Inborn genetic diseases [RCV002429479]|Muscular dystrophy [RCV000509134]|Progressive myoclonic epilepsy [RCV000468851]|not provided [RCV003128943] Chr17:46923211..46923212 [GRCh38]
Chr17:45000577..45000578 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic|uncertain significance|not provided
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg) single nucleotide variant Inborn genetic diseases [RCV002413494]|Progressive myoclonic epilepsy [RCV001400542] Chr17:46923209 [GRCh38]
Chr17:45000575 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV000318881] Chr17:46935096 [GRCh38]
Chr17:45012462 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV001408579]|not provided [RCV000187615] Chr17:46935080 [GRCh38]
Chr17:45012446 [GRCh37]
Chr17:17q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*2293G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000298471] Chr17:46941053 [GRCh38]
Chr17:45018419 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*2342A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000299482] Chr17:46941102 [GRCh38]
Chr17:45018468 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*2068C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000326463] Chr17:46940828 [GRCh38]
Chr17:45018194 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1062A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000348049] Chr17:46939822 [GRCh38]
Chr17:45017188 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*2291C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000352296] Chr17:46941051 [GRCh38]
Chr17:45018417 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.50C>G (p.Thr17Ser) single nucleotide variant not provided [RCV000367585] Chr17:46818548 [GRCh38]
Chr17:44895914 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.429G>A (p.Ser143=) single nucleotide variant not provided [RCV002059191]|not specified [RCV000374818] Chr17:46769942 [GRCh38]
Chr17:44847308 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) single nucleotide variant Inborn genetic diseases [RCV002317105]|Progressive myoclonic epilepsy [RCV000307040]|not specified [RCV000187612] Chr17:46929530 [GRCh38]
Chr17:45006896 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.94+12A>G single nucleotide variant Progressive myoclonic epilepsy [RCV002059788]|not specified [RCV000442895] Chr17:46929596 [GRCh38]
Chr17:45006962 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.800A>G (p.Lys267Arg) single nucleotide variant Tetraamelia, autosomal recessive [RCV000349916] Chr17:46768588 [GRCh38]
Chr17:44845954 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.199_200delinsCA (p.Arg67Gln) indel Progressive myoclonic epilepsy [RCV001307620]|not provided [RCV000592294] Chr17:46931203..46931204 [GRCh38]
Chr17:45008569..45008570 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*2589T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000264351] Chr17:46941349 [GRCh38]
Chr17:45018715 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.204-22TC[3] microsatellite not specified [RCV000599170] Chr17:46932045..46932048 [GRCh38]
Chr17:45009411..45009414 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*2195C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000346352] Chr17:46940955 [GRCh38]
Chr17:45018321 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*2573G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000359070] Chr17:46941333 [GRCh38]
Chr17:45018699 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.619G>A (p.Val207Met) single nucleotide variant Progressive myoclonic epilepsy [RCV000638325] Chr17:46938740 [GRCh38]
Chr17:45016106 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.390C>G (p.Ser130=) single nucleotide variant not provided [RCV000591585] Chr17:46769981 [GRCh38]
Chr17:44847347 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.309C>A (p.Pro103=) single nucleotide variant not provided [RCV000730146] Chr17:46773681 [GRCh38]
Chr17:44851047 [GRCh37]
Chr17:17q21.31
conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*1377G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000314008] Chr17:46940137 [GRCh38]
Chr17:45017503 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.638G>A (p.Gly213Asp) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000172906] Chr17:46768750 [GRCh38]
Chr17:44846116 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_004287.5(GOSR2):c.636A>G (p.Thr212=) single nucleotide variant Progressive myoclonic epilepsy [RCV000551466] Chr17:46938757 [GRCh38]
Chr17:45016123 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001204175]|not provided [RCV000187621] Chr17:46932069 [GRCh38]
Chr17:45009435 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1711G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000321031]|not provided [RCV001683302] Chr17:46940471 [GRCh38]
Chr17:45017837 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.485AGA[2] (p.Lys164del) microsatellite Progressive myoclonic epilepsy type 6 [RCV000190901] Chr17:46938606..46938608 [GRCh38]
Chr17:45015972..45015974 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.205C>T (p.Arg69Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV000557503] Chr17:46932068 [GRCh38]
Chr17:45009434 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.29+13C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002521112]|Progressive myoclonic epilepsy type 6 [RCV000273022]|not specified [RCV000418567] Chr17:46923234 [GRCh38]
Chr17:45000600 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_004287.5(GOSR2):c.-12G>C single nucleotide variant Progressive myoclonic epilepsy [RCV000394196]|Progressive myoclonic epilepsy type 6 [RCV000604039]|not provided [RCV001618323]|not specified [RCV000173331] Chr17:46923181 [GRCh38]
Chr17:45000547 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.-23C>A single nucleotide variant not specified [RCV000187611] Chr17:46923170 [GRCh38]
Chr17:45000536 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) deletion Progressive myoclonic epilepsy [RCV000818051]|not provided [RCV000187620] Chr17:46938676..46938703 [GRCh38]
Chr17:45016042..45016069 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1655A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000319920]|not provided [RCV001718675] Chr17:46940415 [GRCh38]
Chr17:45017781 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) single nucleotide variant Progressive myoclonic epilepsy [RCV001241668]|not provided [RCV000493461] Chr17:46923200 [GRCh38]
Chr17:45000566 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.95-17T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002059611]|not specified [RCV000422258] Chr17:46931082 [GRCh38]
Chr17:45008448 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_004287.5(GOSR2):c.*301T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000287401]|not provided [RCV001653581] Chr17:46939061 [GRCh38]
Chr17:45016427 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.*2253C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000292161] Chr17:46941013 [GRCh38]
Chr17:45018379 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.*29T>C single nucleotide variant Tetraamelia, autosomal recessive [RCV000292663] Chr17:46764601 [GRCh38]
Chr17:44841967 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.*2292C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000395162] Chr17:46941052 [GRCh38]
Chr17:45018418 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*412C>A single nucleotide variant Progressive myoclonic epilepsy [RCV000396609] Chr17:46939172 [GRCh38]
Chr17:45016538 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.358A>G (p.Met120Val) single nucleotide variant Progressive myoclonic epilepsy [RCV000538083] Chr17:46935050 [GRCh38]
Chr17:45012416 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*804A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000307323] Chr17:46939564 [GRCh38]
Chr17:45016930 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) single nucleotide variant Inborn genetic diseases [RCV002312566]|Progressive myoclonic epilepsy [RCV000227553]|not specified [RCV000173332] Chr17:46923199 [GRCh38]
Chr17:45000565 [GRCh37]
Chr17:17q21.32
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001006607.3(LRRC37A2):c.4073C>A (p.Ala1358Asp) single nucleotide variant Inborn genetic diseases [RCV003199433] Chr17:46549212 [GRCh38]
Chr17:44626578 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17q21.31(chr17:44225819-44784639)x1 copy number loss See cases [RCV000446269] Chr17:44225819..44784639 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17q21.31(chr17:44190670-44785669)x3 copy number gain See cases [RCV000448709] Chr17:44190670..44785669 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_006178.4(NSF):c.1039C>T (p.His347Tyr) single nucleotide variant Inborn genetic diseases [RCV003290442] Chr17:46692996 [GRCh38]
Chr17:44770362 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.5050C>A (p.Pro1684Thr) single nucleotide variant Inborn genetic diseases [RCV003279705] Chr17:46555420 [GRCh38]
Chr17:44632786 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.*1277C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000277618] Chr17:46940037 [GRCh38]
Chr17:45017403 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001224909]|not provided [RCV000520046] Chr17:46932123 [GRCh38]
Chr17:45009489 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*332A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000342329] Chr17:46939092 [GRCh38]
Chr17:45016458 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1733A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000379876]|not provided [RCV001636912] Chr17:46940493 [GRCh38]
Chr17:45017859 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.*2057C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000285387] Chr17:46940817 [GRCh38]
Chr17:45018183 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) single nucleotide variant Progressive myoclonic epilepsy [RCV000526568]|not specified [RCV000249540] Chr17:46935097 [GRCh38]
Chr17:45012463 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.546C>T (p.Ile182=) single nucleotide variant Progressive myoclonic epilepsy [RCV001435757]|not specified [RCV000442952] Chr17:46938667 [GRCh38]
Chr17:45016033 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*1446A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000354845] Chr17:46940206 [GRCh38]
Chr17:45017572 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1067G>A single nucleotide variant Progressive myoclonic epilepsy [RCV000396621] Chr17:46939827 [GRCh38]
Chr17:45017193 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.-7C>G single nucleotide variant Progressive myoclonic epilepsy [RCV000303520] Chr17:46923186 [GRCh38]
Chr17:45000552 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.29+3G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001852109]|not provided [RCV000173333] Chr17:46923224 [GRCh38]
Chr17:45000590 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1105A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000313103] Chr17:46939865 [GRCh38]
Chr17:45017231 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.369A>G (p.Ser123=) single nucleotide variant Inborn genetic diseases [RCV002348148]|Progressive myoclonic epilepsy [RCV001439808]|not specified [RCV000430962] Chr17:46935061 [GRCh38]
Chr17:45012427 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_004287.5(GOSR2):c.55A>G (p.Met19Val) single nucleotide variant Inborn genetic diseases [RCV003278940]|Progressive myoclonic epilepsy [RCV001867989]|not provided [RCV000595274] Chr17:46929545 [GRCh38]
Chr17:45006911 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.205C>T (p.Arg69Trp) single nucleotide variant Inborn genetic diseases [RCV003244302] Chr17:46512917 [GRCh38]
Chr17:44590283 [GRCh37]
Chr17:17q21.31
likely benign
NM_001006607.3(LRRC37A2):c.2237C>T (p.Thr746Ile) single nucleotide variant Inborn genetic diseases [RCV003258011] Chr17:46514949 [GRCh38]
Chr17:44592315 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.650G>T (p.Gly217Val) single nucleotide variant Inborn genetic diseases [RCV003292128] Chr17:46876294 [GRCh38]
Chr17:44953660 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_203400.5(RPRML):c.344C>G (p.Ala115Gly) single nucleotide variant Inborn genetic diseases [RCV003304113] Chr17:46978664 [GRCh38]
Chr17:45056030 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.*128C>T single nucleotide variant Tetraamelia, autosomal recessive [RCV000332487] Chr17:46764502 [GRCh38]
Chr17:44841868 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.-29C>T single nucleotide variant not specified [RCV000427292] Chr17:46923164 [GRCh38]
Chr17:45000530 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.4(WNT3):c.-112T>C single nucleotide variant Tetraamelia, autosomal recessive [RCV000334691] Chr17:46818709 [GRCh38]
Chr17:44896075 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.29+9C>T single nucleotide variant Progressive myoclonic epilepsy [RCV000896695]|not specified [RCV000434019] Chr17:46923230 [GRCh38]
Chr17:45000596 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.-20T>G single nucleotide variant Progressive myoclonic epilepsy [RCV000343191] Chr17:46923173 [GRCh38]
Chr17:45000539 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.-29G>A single nucleotide variant Tetraamelia, autosomal recessive [RCV000374159] Chr17:46818626 [GRCh38]
Chr17:44895992 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) single nucleotide variant Inborn genetic diseases [RCV002379296]|Progressive myoclonic epilepsy [RCV001456329]|not provided [RCV000461587] Chr17:46929562 [GRCh38]
Chr17:45006928 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.336+9G>A single nucleotide variant GOSR2-related condition [RCV003940279]|Progressive myoclonic epilepsy [RCV000386264]|Progressive myoclonic epilepsy type 6 [RCV001094534]|not specified [RCV000438604] Chr17:46932208 [GRCh38]
Chr17:45009574 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_030753.5(WNT3):c.*97G>A single nucleotide variant Tetraamelia, autosomal recessive [RCV000388784] Chr17:46764533 [GRCh38]
Chr17:44841899 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.99A>G (p.Val33=) single nucleotide variant Progressive myoclonic epilepsy [RCV000539946] Chr17:46931103 [GRCh38]
Chr17:45008469 [GRCh37]
Chr17:17q21.32
likely benign
NM_001006607.3(LRRC37A2):c.2676G>C (p.Glu892Asp) single nucleotide variant Inborn genetic diseases [RCV003261307] Chr17:46517428 [GRCh38]
Chr17:44594794 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV000534466]|not provided [RCV000711831] Chr17:46929547 [GRCh38]
Chr17:45006913 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.-1C>T single nucleotide variant Inborn genetic diseases [RCV002415805]|not provided [RCV000187617] Chr17:46923192 [GRCh38]
Chr17:45000558 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94+4A>G single nucleotide variant Inborn genetic diseases [RCV002372148]|Progressive myoclonic epilepsy [RCV001857616]|not provided [RCV000187618] Chr17:46929588 [GRCh38]
Chr17:45006954 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) single nucleotide variant Inborn genetic diseases [RCV002312117]|Myoclonic epilepsy, progressive, X-linked [RCV000989942]|Progressive myoclonic epilepsy [RCV000276471]|Progressive myoclonic epilepsy type 6 [RCV001701753]|not provided [RCV000711830]|not specified [RCV000117154] Chr17:46931204 [GRCh38]
Chr17:45008570 [GRCh37]
Chr17:17q21.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_004287.5(GOSR2):c.478-4C>G single nucleotide variant Progressive myoclonic epilepsy [RCV001414306]|not provided [RCV000179432] Chr17:46938595 [GRCh38]
Chr17:45015961 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_030753.5(WNT3):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV003263398] Chr17:46818591 [GRCh38]
Chr17:44895957 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) single nucleotide variant Progressive myoclonic epilepsy [RCV000275507] Chr17:46935055 [GRCh38]
Chr17:45012421 [GRCh37]
Chr17:17q21.32
conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*286G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000379477] Chr17:46939046 [GRCh38]
Chr17:45016412 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.4322C>G (p.Thr1441Ser) single nucleotide variant Inborn genetic diseases [RCV003290506] Chr17:46549461 [GRCh38]
Chr17:44626827 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.95-6G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001465756] Chr17:46931093 [GRCh38]
Chr17:45008459 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.*2192T>G single nucleotide variant Progressive myoclonic epilepsy [RCV000291424] Chr17:46940952 [GRCh38]
Chr17:45018318 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.4(GOSR2):c.-64G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000394195] Chr17:46923129 [GRCh38]
Chr17:45000495 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV000475527]|not provided [RCV003313068] Chr17:46931137 [GRCh38]
Chr17:45008503 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.83A>C (p.Gln28Pro) single nucleotide variant not provided [RCV000439569] Chr17:46929573 [GRCh38]
Chr17:45006939 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*2337T>C single nucleotide variant Progressive myoclonic epilepsy [RCV000402004] Chr17:46941097 [GRCh38]
Chr17:45018463 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.*2213G>T single nucleotide variant Progressive myoclonic epilepsy [RCV000404196] Chr17:46940973 [GRCh38]
Chr17:45018339 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.478-20dup duplication not specified [RCV000187610] Chr17:46938570..46938571 [GRCh38]
Chr17:45015936..45015937 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) single nucleotide variant Inborn genetic diseases [RCV002444759]|Progressive myoclonic epilepsy [RCV001478495]|not provided [RCV000187619] Chr17:46932185 [GRCh38]
Chr17:45009551 [GRCh37]
Chr17:17q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.105C>T (p.Asn35=) single nucleotide variant Progressive myoclonic epilepsy [RCV001474237]|not specified [RCV000608229] Chr17:46931109 [GRCh38]
Chr17:45008475 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+18del deletion not provided [RCV002064320]|not specified [RCV000614235] Chr17:46773650 [GRCh38]
Chr17:44851016 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_004287.5(GOSR2):c.*1823C>T single nucleotide variant GOSR2-related condition [RCV003902534]|not provided [RCV001531270]|not specified [RCV000429179] Chr17:46940583 [GRCh38]
Chr17:45017949 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_004287.5(GOSR2):c.-26G>C single nucleotide variant not specified [RCV000437525] Chr17:46923167 [GRCh38]
Chr17:45000533 [GRCh37]
Chr17:17q21.32
benign
NM_001006607.3(LRRC37A2):c.5010C>A (p.His1670Gln) single nucleotide variant Inborn genetic diseases [RCV003257846] Chr17:46555380 [GRCh38]
Chr17:44632746 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) single nucleotide variant Inborn genetic diseases [RCV002317840]|Progressive myoclonic epilepsy [RCV000334065]|not provided [RCV001553153] Chr17:46932109 [GRCh38]
Chr17:45009475 [GRCh37]
Chr17:17q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.*288_*296dup duplication Progressive myoclonic epilepsy [RCV000336542]|not provided [RCV001675820] Chr17:46939046..46939047 [GRCh38]
Chr17:45016412..45016413 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_004287.5(GOSR2):c.*1679A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000374521] Chr17:46940439 [GRCh38]
Chr17:45017805 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.-30G>C single nucleotide variant Progressive myoclonic epilepsy [RCV000304282]|Progressive myoclonic epilepsy type 6 [RCV001701609]|not specified [RCV000125250] Chr17:46923163 [GRCh38]
Chr17:45000529 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) single nucleotide variant Progressive myoclonic epilepsy [RCV000375914]|not provided [RCV001575029] Chr17:46938662 [GRCh38]
Chr17:45016028 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*2190TC[2] microsatellite Progressive myoclonic epilepsy [RCV000381049] Chr17:46940949..46940950 [GRCh38]
Chr17:45018315..45018316 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*2336A>T single nucleotide variant Progressive myoclonic epilepsy [RCV000353392] Chr17:46941096 [GRCh38]
Chr17:45018462 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV000467105] Chr17:46929558 [GRCh38]
Chr17:45006924 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.29+1G>A single nucleotide variant not provided [RCV000255066] Chr17:46923222 [GRCh38]
Chr17:45000588 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_004287.5(GOSR2):c.94+16_94+17del microsatellite Progressive myoclonic epilepsy [RCV002526558]|not specified [RCV000485917] Chr17:46929598..46929599 [GRCh38]
Chr17:45006964..45006965 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000172899] Chr17:46773719 [GRCh38]
Chr17:44851085 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_004287.5(GOSR2):c.111C>T (p.Ile37=) single nucleotide variant Inborn genetic diseases [RCV002433843]|Progressive myoclonic epilepsy [RCV001418293]|Progressive myoclonic epilepsy type 6 [RCV002500573]|not provided [RCV002054203]|not specified [RCV000187613] Chr17:46931115 [GRCh38]
Chr17:45008481 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_030753.5(WNT3):c.247C>T (p.Gln83Ter) single nucleotide variant Tetraamelia syndrome 1 [RCV000014823] Chr17:46773743 [GRCh38]
Chr17:44851109 [GRCh37]
Chr17:17q21.31
pathogenic
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) single nucleotide variant Muscular dystrophy [RCV000509417]|Muscular dystrophy, congenital, with or without seizures [RCV002472356]|Progressive myoclonic epilepsy [RCV001068291]|Progressive myoclonic epilepsy type 6 [RCV000023359]|not provided [RCV000478768] Chr17:46935122 [GRCh38]
Chr17:45012488 [GRCh37]
Chr17:17q21.32
pathogenic|not provided
NM_004287.4(GOSR2):c.-34C>T single nucleotide variant not specified [RCV000425113] Chr17:46923159 [GRCh38]
Chr17:45000525 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002536324]|not provided [RCV000658311] Chr17:46931108 [GRCh38]
Chr17:45008474 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94+2T>G single nucleotide variant developmental delay with absent seizures [RCV000678801] Chr17:46929586 [GRCh38]
Chr17:45006952 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.337-2A>G single nucleotide variant Progressive myoclonic epilepsy [RCV000701758] Chr17:46935027 [GRCh38]
Chr17:45012393 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met) single nucleotide variant Progressive myoclonic epilepsy [RCV000688411] Chr17:46929561 [GRCh38]
Chr17:45006927 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.235C>T (p.His79Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV000706976] Chr17:46932098 [GRCh38]
Chr17:45009464 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.*1795G>C single nucleotide variant not provided [RCV000711832] Chr17:46940555 [GRCh38]
Chr17:45017921 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV000705655] Chr17:46932194 [GRCh38]
Chr17:45009560 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_006178.4(NSF):c.1289C>T (p.Ala430Val) single nucleotide variant not provided [RCV000709927] Chr17:46694577 [GRCh38]
Chr17:44771943 [GRCh37]
Chr17:17q21.31
not provided
NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu) single nucleotide variant Inborn genetic diseases [RCV002313680]|Progressive myoclonic epilepsy [RCV001523407]|not provided [RCV001692275] Chr17:46932076 [GRCh38]
Chr17:45009442 [GRCh37]
Chr17:17q21.32
benign|likely benign|uncertain significance
NM_004287.5(GOSR2):c.269G>A (p.Arg90Gln) single nucleotide variant Inborn genetic diseases [RCV002318073]|Progressive myoclonic epilepsy [RCV001862053] Chr17:46932132 [GRCh38]
Chr17:45009498 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) single nucleotide variant Inborn genetic diseases [RCV002318134]|Progressive myoclonic epilepsy [RCV001868368]|not provided [RCV003141725] Chr17:46935056 [GRCh38]
Chr17:45012422 [GRCh37]
Chr17:17q21.32
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q21.31(chr17:44165803-44791322)x3 copy number gain not provided [RCV000739573] Chr17:44165803..44791322 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17q21.31(chr17:44436494-44849188)x1 copy number loss not provided [RCV000739608] Chr17:44436494..44849188 [GRCh37]
Chr17:17q21.31
benign
NM_004287.5(GOSR2):c.29+149C>T single nucleotide variant not provided [RCV001610231] Chr17:46923370 [GRCh38]
Chr17:45000736 [GRCh37]
Chr17:17q21.32
benign
GRCh37/hg19 17q21.31(chr17:44213187-44800046)x3 copy number gain not provided [RCV000752112] Chr17:44213187..44800046 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17q21.31(chr17:44628880-44782177)x1 copy number loss not provided [RCV000752126] Chr17:44628880..44782177 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17q21.31(chr17:44629166-44870255)x1 copy number loss not provided [RCV000752127] Chr17:44629166..44870255 [GRCh37]
Chr17:17q21.31
benign
NM_004287.5(GOSR2):c.435C>T (p.His145=) single nucleotide variant Progressive myoclonic epilepsy [RCV001432406] Chr17:46935127 [GRCh38]
Chr17:45012493 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.414G>A (p.Gly138=) single nucleotide variant not provided [RCV000937168] Chr17:46875180 [GRCh38]
Chr17:44952546 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.627G>A (p.Thr209=) single nucleotide variant not provided [RCV000966030] Chr17:46876271 [GRCh38]
Chr17:44953637 [GRCh37]
Chr17:17q21.32
benign
NM_003396.3(WNT9B):c.168C>T (p.Asp56=) single nucleotide variant not provided [RCV000971651] Chr17:46872607 [GRCh38]
Chr17:44949973 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.6T>C (p.Asp2=) single nucleotide variant Inborn genetic diseases [RCV002372444]|Progressive myoclonic epilepsy [RCV001459004] Chr17:46923198 [GRCh38]
Chr17:45000564 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile) single nucleotide variant Inborn genetic diseases [RCV002553125]|Progressive myoclonic epilepsy [RCV001045568] Chr17:46938700 [GRCh38]
Chr17:45016066 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001045623]|not provided [RCV001664640] Chr17:46938659 [GRCh38]
Chr17:45016025 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94+257C>G single nucleotide variant not provided [RCV000827796] Chr17:46929841 [GRCh38]
Chr17:45007207 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.177C>T (p.Pro59=) single nucleotide variant Progressive myoclonic epilepsy [RCV001406027] Chr17:46931181 [GRCh38]
Chr17:45008547 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.237C>T (p.His79=) single nucleotide variant Progressive myoclonic epilepsy [RCV001450567] Chr17:46932100 [GRCh38]
Chr17:45009466 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) single nucleotide variant Progressive myoclonic epilepsy [RCV001416953]|not provided [RCV000865149] Chr17:46929554 [GRCh38]
Chr17:45006920 [GRCh37]
Chr17:17q21.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004287.5(GOSR2):c.302G>C (p.Arg101Pro) single nucleotide variant Inborn genetic diseases [RCV003290192] Chr17:46932165 [GRCh38]
Chr17:45009531 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.154G>A (p.Glu52Lys) single nucleotide variant Inborn genetic diseases [RCV002535950]|Progressive myoclonic epilepsy [RCV000822416] Chr17:46931158 [GRCh38]
Chr17:45008524 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.203+153C>G single nucleotide variant not provided [RCV000837761] Chr17:46931360 [GRCh38]
Chr17:45008726 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.266A>G (p.His89Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000803440] Chr17:46932129 [GRCh38]
Chr17:45009495 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94+263A>G single nucleotide variant not provided [RCV000843435] Chr17:46929847 [GRCh38]
Chr17:45007213 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.258C>G (p.Asn86Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV000807840] Chr17:46932121 [GRCh38]
Chr17:45009487 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV000808372] Chr17:46929537 [GRCh38]
Chr17:45006903 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.637T>C (p.Ter213Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000808947] Chr17:46938758 [GRCh38]
Chr17:45016124 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.128A>G (p.Gln43Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV000819708] Chr17:46931132 [GRCh38]
Chr17:45008498 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.39C>T (p.His13=) single nucleotide variant Inborn genetic diseases [RCV002372374]|Progressive myoclonic epilepsy [RCV001398750]|not provided [RCV000828421] Chr17:46929529 [GRCh38]
Chr17:45006895 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.203+169G>C single nucleotide variant not provided [RCV000841738] Chr17:46931376 [GRCh38]
Chr17:45008742 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV000813453] Chr17:46935042 [GRCh38]
Chr17:45012408 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.337-308A>G single nucleotide variant not provided [RCV000827797] Chr17:46934721 [GRCh38]
Chr17:45012087 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.101A>G (p.Glu34Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV000812177] Chr17:46931105 [GRCh38]
Chr17:45008471 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.337-147T>G single nucleotide variant not provided [RCV000841223] Chr17:46934882 [GRCh38]
Chr17:45012248 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.272G>A (p.Arg91His) single nucleotide variant Progressive myoclonic epilepsy [RCV000794554] Chr17:46932135 [GRCh38]
Chr17:45009501 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.231C>T (p.Val77=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746558]|not provided [RCV000834541] Chr17:46932094 [GRCh38]
Chr17:45009460 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV000816740] Chr17:46931188 [GRCh38]
Chr17:45008554 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.336+45G>T single nucleotide variant not provided [RCV000829989] Chr17:46932244 [GRCh38]
Chr17:45009610 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.205C>A (p.Arg69=) single nucleotide variant Progressive myoclonic epilepsy [RCV000814368] Chr17:46932068 [GRCh38]
Chr17:45009434 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.336C>T (p.Asn112=) single nucleotide variant Inborn genetic diseases [RCV002451421]|Progressive myoclonic epilepsy [RCV001203086]|Progressive myoclonic epilepsy type 6 [RCV002071860] Chr17:46932199 [GRCh38]
Chr17:45009565 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001209018] Chr17:46923202 [GRCh38]
Chr17:45000568 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.103A>G (p.Asn35Asp) single nucleotide variant Progressive myoclonic epilepsy [RCV001221710] Chr17:46931107 [GRCh38]
Chr17:45008473 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3592G>C (p.Glu1198Gln) single nucleotide variant Inborn genetic diseases [RCV003241227] Chr17:46548731 [GRCh38]
Chr17:44626097 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_203400.5(RPRML):c.334G>C (p.Val112Leu) single nucleotide variant Inborn genetic diseases [RCV003251939] Chr17:46978674 [GRCh38]
Chr17:45056040 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.4823G>A (p.Arg1608Gln) single nucleotide variant Inborn genetic diseases [RCV003274996] Chr17:46553413 [GRCh38]
Chr17:44630779 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.618_623delinsACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAACTTTGAG (p.Val207_Val208delinsProArgGlyAsnLysMetTer) indel not provided [RCV003126975] Chr17:46938739..46938744 [GRCh38]
Chr17:45016105..45016110 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.336+45G>A single nucleotide variant not provided [RCV001596108] Chr17:46932244 [GRCh38]
Chr17:45009610 [GRCh37]
Chr17:17q21.32
likely benign
NC_000017.11:g.46922868C>T single nucleotide variant not provided [RCV001645336] Chr17:46922868 [GRCh38]
Chr17:45000234 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.322+18A>G single nucleotide variant not provided [RCV001715158] Chr17:46773650 [GRCh38]
Chr17:44851016 [GRCh37]
Chr17:17q21.31
benign
NM_006178.4(NSF):c.1731T>C (p.Ser577=) single nucleotide variant not provided [RCV000955216] Chr17:46713956 [GRCh38]
Chr17:44791322 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_004287.5(GOSR2):c.94+7A>C single nucleotide variant Progressive myoclonic epilepsy [RCV000862008]|Progressive myoclonic epilepsy type 6 [RCV001124182]|not provided [RCV001644844] Chr17:46929591 [GRCh38]
Chr17:45006957 [GRCh37]
Chr17:17q21.32
benign|uncertain significance
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001207457] Chr17:46935032 [GRCh38]
Chr17:45012398 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.563A>G (p.Gln188Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001217382] Chr17:46938684 [GRCh38]
Chr17:45016050 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.262del (p.Gln88fs) deletion Progressive myoclonic epilepsy [RCV001065400] Chr17:46932124 [GRCh38]
Chr17:45009490 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.576T>C (p.Phe192=) single nucleotide variant Progressive myoclonic epilepsy [RCV001485217] Chr17:46938697 [GRCh38]
Chr17:45016063 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+19dup duplication not provided [RCV001659370] Chr17:46773640..46773641 [GRCh38]
Chr17:44851006..44851007 [GRCh37]
Chr17:17q21.31
benign
NM_004287.5(GOSR2):c.204-7A>G single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV003152623]|Progressive myoclonic epilepsy [RCV003746589]|Progressive myoclonic epilepsy type 6 [RCV001563703] Chr17:46932060 [GRCh38]
Chr17:45009426 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic|likely benign
NM_004287.5(GOSR2):c.319C>T (p.Arg107Ter) single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV003152624]|Progressive myoclonic epilepsy type 6 [RCV001563704] Chr17:46932182 [GRCh38]
Chr17:45009548 [GRCh37]
Chr17:17q21.32
pathogenic
NM_001006607.3(LRRC37A2):c.3446A>G (p.Asn1149Ser) single nucleotide variant Inborn genetic diseases [RCV003304902] Chr17:46548585 [GRCh38]
Chr17:44625951 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.216C>T (p.Gly72=) single nucleotide variant not provided [RCV003106664] Chr17:46773774 [GRCh38]
Chr17:44851140 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.478-130T>C single nucleotide variant not provided [RCV001540879] Chr17:46938469 [GRCh38]
Chr17:45015835 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.-16C>G single nucleotide variant not provided [RCV001618937] Chr17:46923177 [GRCh38]
Chr17:45000543 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.94+153T>G single nucleotide variant not provided [RCV001597721] Chr17:46929737 [GRCh38]
Chr17:45007103 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.322+28A>G single nucleotide variant not provided [RCV001662986] Chr17:46773640 [GRCh38]
Chr17:44851006 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.322+38T>G single nucleotide variant not provided [RCV001715572] Chr17:46773630 [GRCh38]
Chr17:44850996 [GRCh37]
Chr17:17q21.31
benign
NM_030753.5(WNT3):c.323-293G>C single nucleotide variant not provided [RCV001635840] Chr17:46770341 [GRCh38]
Chr17:44847707 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17q21.31(chr17:43655356-44784639)x3 copy number gain not provided [RCV001006904] Chr17:43655356..44784639 [GRCh37]
Chr17:17q21.31
pathogenic
NM_030753.5(WNT3):c.323-252C>G single nucleotide variant not provided [RCV001647989] Chr17:46770300 [GRCh38]
Chr17:44847666 [GRCh37]
Chr17:17q21.31
benign
NC_000017.11:g.46922988C>T single nucleotide variant not provided [RCV001614602] Chr17:46922988 [GRCh38]
Chr17:45000354 [GRCh37]
Chr17:17q21.32
benign
NM_001012511.3(GOSR2):c.-32_-31insCCAGAGCCAG duplication not provided [RCV001692820] Chr17:46923155..46923156 [GRCh38]
Chr17:45000521..45000522 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.29+114A>G single nucleotide variant not provided [RCV001680624] Chr17:46923335 [GRCh38]
Chr17:45000701 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.*8+232T>C single nucleotide variant not provided [RCV001724435] Chr17:46768080 [GRCh38]
Chr17:44845446 [GRCh37]
Chr17:17q21.31
benign
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001215511] Chr17:46932183 [GRCh38]
Chr17:45009549 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV001040373] Chr17:46938631 [GRCh38]
Chr17:45015997 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg) single nucleotide variant Inborn genetic diseases [RCV002563699]|Progressive myoclonic epilepsy [RCV001228380] Chr17:46929570 [GRCh38]
Chr17:45006936 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001218407] Chr17:46923212 [GRCh38]
Chr17:45000578 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.393G>T (p.Gln131His) single nucleotide variant Progressive myoclonic epilepsy [RCV001218533]|not provided [RCV001751415] Chr17:46935085 [GRCh38]
Chr17:45012451 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV001038615] Chr17:46938689 [GRCh38]
Chr17:45016055 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV001046772] Chr17:46938755 [GRCh38]
Chr17:45016121 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001236559] Chr17:46935063 [GRCh38]
Chr17:45012429 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.229G>A (p.Val77Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001201822]|not provided [RCV003130179] Chr17:46932092 [GRCh38]
Chr17:45009458 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001313895] Chr17:46935131 [GRCh38]
Chr17:45012497 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.136A>G (p.Ser46Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV002001950] Chr17:46931140 [GRCh38]
Chr17:45008506 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV002472358]|Progressive myoclonic epilepsy [RCV001880060]|not provided [RCV001263455] Chr17:46929572 [GRCh38]
Chr17:45006938 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV001339513]|not provided [RCV003442859] Chr17:46923199 [GRCh38]
Chr17:45000565 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001317171] Chr17:46938740 [GRCh38]
Chr17:45016106 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.140G>A (p.Arg47His) single nucleotide variant Progressive myoclonic epilepsy [RCV001337639] Chr17:46931144 [GRCh38]
Chr17:45008510 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV001337369] Chr17:46929569 [GRCh38]
Chr17:45006935 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.300G>C (p.Gln100His) single nucleotide variant Progressive myoclonic epilepsy [RCV001307435] Chr17:46932163 [GRCh38]
Chr17:45009529 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV002420834]|Progressive myoclonic epilepsy [RCV001371323]|not provided [RCV001537382] Chr17:46923193 [GRCh38]
Chr17:45000559 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic|uncertain significance
NM_004287.5(GOSR2):c.100G>T (p.Glu34Ter) single nucleotide variant Epilepsy, progressive myoclonic 6 [RCV001333217] Chr17:46931104 [GRCh38]
Chr17:45008470 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001296293] Chr17:46932114 [GRCh38]
Chr17:45009480 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.167G>T (p.Ser56Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001363631] Chr17:46931171 [GRCh38]
Chr17:45008537 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001343068] Chr17:46929584 [GRCh38]
Chr17:45006950 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001299403] Chr17:46931126 [GRCh38]
Chr17:45008492 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV001366283] Chr17:46923206 [GRCh38]
Chr17:45000572 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001366490] Chr17:46938760 [GRCh38]
Chr17:45016126 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001296001] Chr17:46932131 [GRCh38]
Chr17:45009497 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001309629] Chr17:46935120 [GRCh38]
Chr17:45012486 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV001366953] Chr17:46923195 [GRCh38]
Chr17:45000561 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn) single nucleotide variant Progressive myoclonic epilepsy [RCV001365429] Chr17:46938673 [GRCh38]
Chr17:45016039 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.95-7T>C single nucleotide variant Progressive myoclonic epilepsy [RCV001435773] Chr17:46931092 [GRCh38]
Chr17:45008458 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.204-1G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001377171] Chr17:46932066 [GRCh38]
Chr17:45009432 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_004287.5(GOSR2):c.95-7T>G single nucleotide variant Progressive myoclonic epilepsy [RCV001407168] Chr17:46931092 [GRCh38]
Chr17:45008458 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.9C>G (p.Pro3=) single nucleotide variant Progressive myoclonic epilepsy [RCV001423621] Chr17:46923201 [GRCh38]
Chr17:45000567 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) microsatellite Progressive myoclonic epilepsy [RCV001386521] Chr17:46929577..46929578 [GRCh38]
Chr17:45006943..45006944 [GRCh37]
Chr17:17q21.32
pathogenic
NM_006178.4(NSF):c.1688C>T (p.Pro563Leu) single nucleotide variant Developmental and epileptic encephalopathy 96 [RCV001449912]|not provided [RCV002292639] Chr17:46713913 [GRCh38]
Chr17:44791279 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_004287.5(GOSR2):c.519C>T (p.Gly173=) single nucleotide variant Progressive myoclonic epilepsy [RCV001479025] Chr17:46938640 [GRCh38]
Chr17:45016006 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.249G>A (p.Ala83=) single nucleotide variant Inborn genetic diseases [RCV002432393]|Progressive myoclonic epilepsy [RCV001495899] Chr17:46932112 [GRCh38]
Chr17:45009478 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) single nucleotide variant Inborn genetic diseases [RCV002343772]|Progressive myoclonic epilepsy [RCV002592490]|not provided [RCV001592117] Chr17:46938668 [GRCh38]
Chr17:45016034 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.773G>A (p.Arg258His) single nucleotide variant not provided [RCV001523517] Chr17:46876417 [GRCh38]
Chr17:44953783 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.30-10C>T single nucleotide variant Progressive myoclonic epilepsy [RCV001481654] Chr17:46929510 [GRCh38]
Chr17:45006876 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.186A>G (p.Lys62=) single nucleotide variant Progressive myoclonic epilepsy [RCV001454529] Chr17:46931190 [GRCh38]
Chr17:45008556 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.631C>T (p.Leu211=) single nucleotide variant Progressive myoclonic epilepsy [RCV001417665] Chr17:46938752 [GRCh38]
Chr17:45016118 [GRCh37]
Chr17:17q21.32
likely benign
NM_006178.4(NSF):c.1375G>A (p.Ala459Thr) single nucleotide variant Developmental and epileptic encephalopathy 96 [RCV001449911] Chr17:46704759 [GRCh38]
Chr17:44782125 [GRCh37]
Chr17:17q21.31
pathogenic
NM_030753.5(WNT3):c.969G>A (p.Thr323=) single nucleotide variant not provided [RCV003108293] Chr17:46768419 [GRCh38]
Chr17:44845785 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.463A>G (p.Arg155Gly) single nucleotide variant not provided [RCV001755061] Chr17:46935155 [GRCh38]
Chr17:45012521 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.322+15C>G single nucleotide variant not provided [RCV001759335] Chr17:46773653 [GRCh38]
Chr17:44851019 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.53G>C (p.Cys18Ser) single nucleotide variant not provided [RCV001764007] Chr17:46929543 [GRCh38]
Chr17:45006909 [GRCh37]
Chr17:17q21.32
uncertain significance
NC_000017.11:g.46819047G>T single nucleotide variant not provided [RCV001769841] Chr17:46819047 [GRCh38]
Chr17:44896413 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.587G>C (p.Gly196Ala) single nucleotide variant not provided [RCV001763313] Chr17:46938708 [GRCh38]
Chr17:45016074 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.80+53G>T single nucleotide variant not provided [RCV001768186] Chr17:46818465 [GRCh38]
Chr17:44895831 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+33C>G single nucleotide variant not provided [RCV001752976] Chr17:46773635 [GRCh38]
Chr17:44851001 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.322+16T>G single nucleotide variant not provided [RCV001776532] Chr17:46773652 [GRCh38]
Chr17:44851018 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.322+34T>G single nucleotide variant not provided [RCV001769823] Chr17:46773634 [GRCh38]
Chr17:44851000 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV002544120]|not provided [RCV001774309] Chr17:46932110 [GRCh38]
Chr17:45009476 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.80+72G>C single nucleotide variant not provided [RCV001753179] Chr17:46818446 [GRCh38]
Chr17:44895812 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.*8+140G>A single nucleotide variant not provided [RCV001752884] Chr17:46768172 [GRCh38]
Chr17:44845538 [GRCh37]
Chr17:17q21.31
likely benign
NC_000017.11:g.46819041C>A single nucleotide variant not provided [RCV001766180] Chr17:46819041 [GRCh38]
Chr17:44896407 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.322+33_322+34del deletion not provided [RCV001753114] Chr17:46773634..46773635 [GRCh38]
Chr17:44851000..44851001 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.81-194dup duplication not provided [RCV001766179] Chr17:46774102..46774103 [GRCh38]
Chr17:44851468..44851469 [GRCh37]
Chr17:17q21.31
likely benign
NM_006178.4(NSF):c.1275C>T (p.Asp425=) single nucleotide variant not provided [RCV001815828] Chr17:46694563 [GRCh38]
Chr17:44771929 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg) single nucleotide variant not provided [RCV001758230] Chr17:46935140 [GRCh38]
Chr17:45012506 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_006178.4(NSF):c.1359G>A (p.Met453Ile) single nucleotide variant Developmental and epileptic encephalopathy 96 [RCV001779406] Chr17:46694647 [GRCh38]
Chr17:44772013 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.589-210G>A single nucleotide variant not provided [RCV001759302] Chr17:46769009 [GRCh38]
Chr17:44846375 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.283G>A (p.Glu95Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV002008708] Chr17:46932146 [GRCh38]
Chr17:45009512 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala) single nucleotide variant Progressive myoclonic epilepsy [RCV001929908] Chr17:46923199 [GRCh38]
Chr17:45000565 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.298C>A (p.Gln100Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV002009228] Chr17:46932161 [GRCh38]
Chr17:45009527 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.1051G>A (p.Val351Met) single nucleotide variant Inborn genetic diseases [RCV003170308]|not provided [RCV001971335] Chr17:46768337 [GRCh38]
Chr17:44845703 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.661G>A (p.Val221Met) single nucleotide variant not provided [RCV001914549] Chr17:46876305 [GRCh38]
Chr17:44953671 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.254G>A (p.Arg85Gln) single nucleotide variant not provided [RCV001874015] Chr17:46773736 [GRCh38]
Chr17:44851102 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.285G>C (p.Glu95Asp) single nucleotide variant Progressive myoclonic epilepsy [RCV001929989] Chr17:46932148 [GRCh38]
Chr17:45009514 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94+5G>A single nucleotide variant Progressive myoclonic epilepsy [RCV001894636] Chr17:46929589 [GRCh38]
Chr17:45006955 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn) single nucleotide variant Progressive myoclonic epilepsy [RCV001988580] Chr17:46923196 [GRCh38]
Chr17:45000562 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.226G>C (p.Asp76His) single nucleotide variant Progressive myoclonic epilepsy [RCV002006284] Chr17:46932089 [GRCh38]
Chr17:45009455 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.425dup (p.Leu142fs) duplication Progressive myoclonic epilepsy type 6 [RCV001783394] Chr17:46935113..46935114 [GRCh38]
Chr17:45012479..45012480 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.170A>G (p.Lys57Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001965047] Chr17:46931174 [GRCh38]
Chr17:45008540 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.11dup (p.Pro5fs) duplication Renal hypoplasia [RCV001849869] Chr17:46851643..46851644 [GRCh38]
Chr17:44929009..44929010 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_003396.3(WNT9B):c.949G>A (p.Gly317Arg) single nucleotide variant Cystic renal dysplasia [RCV001849868] Chr17:46876593 [GRCh38]
Chr17:44953959 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_004287.5(GOSR2):c.210del (p.Asp71fs) deletion Progressive myoclonic epilepsy [RCV001908913] Chr17:46932072 [GRCh38]
Chr17:45009438 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.96A>G (p.Ile32Met) single nucleotide variant Progressive myoclonic epilepsy [RCV001890594] Chr17:46931100 [GRCh38]
Chr17:45008466 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.301C>T (p.Arg101Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV001907923] Chr17:46932164 [GRCh38]
Chr17:45009530 [GRCh37]
Chr17:17q21.32
pathogenic
NM_030753.5(WNT3):c.510G>T (p.Arg170Ser) single nucleotide variant not provided [RCV002044537] Chr17:46769861 [GRCh38]
Chr17:44847227 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.477+20A>T single nucleotide variant Progressive myoclonic epilepsy [RCV001895321] Chr17:46935189 [GRCh38]
Chr17:45012555 [GRCh37]
Chr17:17q21.32
likely benign|uncertain significance
NM_030753.5(WNT3):c.511G>C (p.Glu171Gln) single nucleotide variant not provided [RCV002040949] Chr17:46769860 [GRCh38]
Chr17:44847226 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.477+6G>T single nucleotide variant Progressive myoclonic epilepsy [RCV001894407] Chr17:46935175 [GRCh38]
Chr17:45012541 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.161del (p.Leu54fs) deletion Progressive myoclonic epilepsy [RCV002007368] Chr17:46931162 [GRCh38]
Chr17:45008528 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.2T>G (p.Met1Arg) single nucleotide variant Muscular dystrophy, congenital, with or without seizures [RCV002478011] Chr17:46923194 [GRCh38]
Chr17:45000560 [GRCh37]
Chr17:17q21.32
pathogenic|likely pathogenic
NM_004287.5(GOSR2):c.278C>T (p.Ala93Val) single nucleotide variant Inborn genetic diseases [RCV002553662]|Progressive myoclonic epilepsy [RCV001891377] Chr17:46932141 [GRCh38]
Chr17:45009507 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.139C>T (p.Arg47Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001892583] Chr17:46931143 [GRCh38]
Chr17:45008509 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.539G>A (p.Arg180Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002038831] Chr17:46938660 [GRCh38]
Chr17:45016026 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del) deletion Progressive myoclonic epilepsy [RCV001925767] Chr17:46935113..46935130 [GRCh38]
Chr17:45012479..45012496 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.176C>T (p.Pro59Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001961838] Chr17:46931180 [GRCh38]
Chr17:45008546 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.271C>T (p.Arg91Cys) single nucleotide variant Progressive myoclonic epilepsy [RCV001958007] Chr17:46932134 [GRCh38]
Chr17:45009500 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.872G>A (p.Gly291Asp) single nucleotide variant not provided [RCV001888814] Chr17:46768516 [GRCh38]
Chr17:44845882 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.389C>A (p.Thr130Asn) single nucleotide variant not provided [RCV001921671] Chr17:46875155 [GRCh38]
Chr17:44952521 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV002029728] Chr17:46935138 [GRCh38]
Chr17:45012504 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.310G>A (p.Val104Ile) single nucleotide variant not provided [RCV001994157] Chr17:46773680 [GRCh38]
Chr17:44851046 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.665G>A (p.Arg222His) single nucleotide variant not provided [RCV001897618] Chr17:46876309 [GRCh38]
Chr17:44953675 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.665G>T (p.Arg222Leu) single nucleotide variant not provided [RCV001900068] Chr17:46876309 [GRCh38]
Chr17:44953675 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV001956894] Chr17:46929546 [GRCh38]
Chr17:45006912 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.23T>A (p.Leu8Gln) single nucleotide variant not provided [RCV001877416] Chr17:46818575 [GRCh38]
Chr17:44895941 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV001903753] Chr17:46938732 [GRCh38]
Chr17:45016098 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr) single nucleotide variant Inborn genetic diseases [RCV002352662]|Progressive myoclonic epilepsy [RCV001961076] Chr17:46938699 [GRCh38]
Chr17:45016065 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.136G>A (p.Gly46Ser) single nucleotide variant not provided [RCV002035996] Chr17:46773854 [GRCh38]
Chr17:44851220 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu) single nucleotide variant Progressive myoclonic epilepsy [RCV001955459] Chr17:46923207 [GRCh38]
Chr17:45000573 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.286G>C (p.Asp96His) single nucleotide variant not provided [RCV002034061] Chr17:46773704 [GRCh38]
Chr17:44851070 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.95-1G>C single nucleotide variant Progressive myoclonic epilepsy [RCV001959364] Chr17:46931098 [GRCh38]
Chr17:45008464 [GRCh37]
Chr17:17q21.32
likely pathogenic
NM_004287.5(GOSR2):c.206G>C (p.Arg69Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV001959258] Chr17:46932069 [GRCh38]
Chr17:45009435 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV002018125] Chr17:46923220 [GRCh38]
Chr17:45000586 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.451C>G (p.Leu151Val) single nucleotide variant Progressive myoclonic epilepsy [RCV001885477] Chr17:46935143 [GRCh38]
Chr17:45012509 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV001940185] Chr17:46923208 [GRCh38]
Chr17:45000574 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp) single nucleotide variant Progressive myoclonic epilepsy [RCV001976582] Chr17:46938674 [GRCh38]
Chr17:45016040 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.31C>G (p.Gln11Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV002029912] Chr17:46929521 [GRCh38]
Chr17:45006887 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly) single nucleotide variant Progressive myoclonic epilepsy [RCV001879116] Chr17:46938627 [GRCh38]
Chr17:45015993 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.337-6dup duplication Progressive myoclonic epilepsy [RCV002165182] Chr17:46935020..46935021 [GRCh38]
Chr17:45012386..45012387 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.30-15C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002085218] Chr17:46929505 [GRCh38]
Chr17:45006871 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.519G>A (p.Ala173=) single nucleotide variant not provided [RCV002105534] Chr17:46769852 [GRCh38]
Chr17:44847218 [GRCh37]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46130519-46380808)x1 copy number loss See cases [RCV000139149] Chr17:46130519..46380808 [GRCh38]
Chr17:44207885..44458174 [GRCh37]
Chr17:41563662..41841246 [NCBI36]
Chr17:17q21.31
benign|likely benign|conflicting data from submitters
NM_030753.5(WNT3):c.81-16C>A single nucleotide variant not provided [RCV002127922] Chr17:46773925 [GRCh38]
Chr17:44851291 [GRCh37]
Chr17:17q21.31
likely benign
GRCh38/hg38 17q21.31(chr17:46130519-46380808)x3 copy number gain See cases [RCV000139148] Chr17:46130519..46380808 [GRCh38]
Chr17:44223908..44485830 [GRCh37]
Chr17:41563662..41841246 [NCBI36]
Chr17:17q21.31
benign|likely benign|conflicting data from submitters
NM_030753.5(WNT3):c.792G>A (p.Ser264=) single nucleotide variant not provided [RCV002086779] Chr17:46768596 [GRCh38]
Chr17:44845962 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.281G>A (p.Arg94Gln) single nucleotide variant WNT9B-related condition [RCV003958826]|not provided [RCV002110010] Chr17:46872720 [GRCh38]
Chr17:44950086 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.478-14C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002125457] Chr17:46938585 [GRCh38]
Chr17:45015951 [GRCh37]
Chr17:17q21.32
likely benign
NC_000017.11:g.46096853_46403941del deletion Koolen-de Vries syndrome [RCV001255972] Chr17:46096853..46403941 [GRCh38]
Chr17:17q21.31
pathogenic
NM_004287.5(GOSR2):c.477+19del deletion Progressive myoclonic epilepsy [RCV002106717] Chr17:46935184 [GRCh38]
Chr17:45012550 [GRCh37]
Chr17:17q21.32
benign
NC_000017.11:g.46092442_46502770dup duplication Gestational diabetes mellitus uncontrolled [RCV000161819]|Large for gestational age [RCV000161818]|Normal pregnancy [RCV000161815]|Preeclampsia [RCV000161814] Chr17:46092442..46502770 [GRCh38]
Chr17:44169808..44580136 [GRCh37]
Chr17:17q21.31
not provided
NC_000017.11:g.46084075_46502770dup duplication Large for gestational age [RCV000161811] Chr17:46084075..46502770 [GRCh38]
Chr17:44161441..44580136 [GRCh37]
Chr17:17q21.31
not provided
NM_030753.5(WNT3):c.499T>C (p.Leu167=) single nucleotide variant not provided [RCV002186909] Chr17:46769872 [GRCh38]
Chr17:44847238 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.336+14G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002091605] Chr17:46932213 [GRCh38]
Chr17:45009579 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.843C>T (p.Pro281=) single nucleotide variant not provided [RCV002153670] Chr17:46768545 [GRCh38]
Chr17:44845911 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.588+9G>A single nucleotide variant not provided [RCV002078437] Chr17:46769774 [GRCh38]
Chr17:44847140 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.774C>T (p.Thr258=) single nucleotide variant not provided [RCV002195705] Chr17:46768614 [GRCh38]
Chr17:44845980 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.30-14T>C single nucleotide variant Progressive myoclonic epilepsy [RCV002188779] Chr17:46929506 [GRCh38]
Chr17:45006872 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.921C>T (p.Ile307=) single nucleotide variant WNT3-related condition [RCV003971108]|not provided [RCV002146670] Chr17:46768467 [GRCh38]
Chr17:44845833 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.375G>A (p.Gln125=) single nucleotide variant Progressive myoclonic epilepsy [RCV002117107] Chr17:46935067 [GRCh38]
Chr17:45012433 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.30-7T>A single nucleotide variant Progressive myoclonic epilepsy [RCV002087358] Chr17:46929513 [GRCh38]
Chr17:45006879 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.711G>A (p.Lys237=) single nucleotide variant not provided [RCV002213072] Chr17:46768677 [GRCh38]
Chr17:44846043 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.135C>T (p.Cys45=) single nucleotide variant WNT3-related condition [RCV003958862]|not provided [RCV002133102] Chr17:46773855 [GRCh38]
Chr17:44851221 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_004287.5(GOSR2):c.94+15G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002107824] Chr17:46929599 [GRCh38]
Chr17:45006965 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.29+15G>T single nucleotide variant Progressive myoclonic epilepsy [RCV002093215] Chr17:46923236 [GRCh38]
Chr17:45000602 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.144C>T (p.Gly48=) single nucleotide variant not provided [RCV002125115] Chr17:46872583 [GRCh38]
Chr17:44949949 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_030753.5(WNT3):c.588+13A>G single nucleotide variant not provided [RCV002196136] Chr17:46769770 [GRCh38]
Chr17:44847136 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.162G>A (p.Gln54=) single nucleotide variant WNT9B-related condition [RCV003950972]|not provided [RCV002215404] Chr17:46872601 [GRCh38]
Chr17:44949967 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.309C>G (p.Pro103=) single nucleotide variant not provided [RCV002076654] Chr17:46773681 [GRCh38]
Chr17:44851047 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.336+17G>T single nucleotide variant Progressive myoclonic epilepsy [RCV002174633] Chr17:46932216 [GRCh38]
Chr17:45009582 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.816G>A (p.Arg272=) single nucleotide variant not provided [RCV002172591] Chr17:46768572 [GRCh38]
Chr17:44845938 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.135G>A (p.Pro45=) single nucleotide variant not provided [RCV002118986] Chr17:46872574 [GRCh38]
Chr17:44949940 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.528C>T (p.Asn176=) single nucleotide variant Progressive myoclonic epilepsy [RCV002159538] Chr17:46938649 [GRCh38]
Chr17:45016015 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.30-8T>A single nucleotide variant Progressive myoclonic epilepsy [RCV002218735] Chr17:46929512 [GRCh38]
Chr17:45006878 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.399G>T (p.Arg133=) single nucleotide variant not provided [RCV002083662] Chr17:46875165 [GRCh38]
Chr17:44952531 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.336+13C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002122493] Chr17:46932212 [GRCh38]
Chr17:45009578 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.12C>T (p.His4=) single nucleotide variant not provided [RCV002164406] Chr17:46818586 [GRCh38]
Chr17:44895952 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.903T>C (p.Asn301=) single nucleotide variant not provided [RCV002144048] Chr17:46768485 [GRCh38]
Chr17:44845851 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.140A>G (p.Gln47Arg) single nucleotide variant not provided [RCV002122632] Chr17:46872579 [GRCh38]
Chr17:44949945 [GRCh37]
Chr17:17q21.32
benign
NM_003396.3(WNT9B):c.846G>C (p.Val282=) single nucleotide variant not provided [RCV002122925] Chr17:46876490 [GRCh38]
Chr17:44953856 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.915C>T (p.His305=) single nucleotide variant not provided [RCV002154332] Chr17:46768473 [GRCh38]
Chr17:44845839 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.18C>T (p.Leu6=) single nucleotide variant not provided [RCV002200196] Chr17:46818580 [GRCh38]
Chr17:44895946 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.381C>T (p.Asn127=) single nucleotide variant Progressive myoclonic epilepsy [RCV002183047] Chr17:46935073 [GRCh38]
Chr17:45012439 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.522C>A (p.Ser174Arg) single nucleotide variant WNT9B-related condition [RCV003933632]|not provided [RCV002158627] Chr17:46875288 [GRCh38]
Chr17:44952654 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_003396.3(WNT9B):c.317T>C (p.Met106Thr) single nucleotide variant WNT9B-related condition [RCV003978690]|not provided [RCV002122924] Chr17:46872756 [GRCh38]
Chr17:44950122 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.588+18C>T single nucleotide variant not provided [RCV002123639] Chr17:46769765 [GRCh38]
Chr17:44847131 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.589G>A (p.Val197Met) single nucleotide variant not provided [RCV002100722] Chr17:46875355 [GRCh38]
Chr17:44952721 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.525C>T (p.Ser175=) single nucleotide variant Progressive myoclonic epilepsy [RCV002163180] Chr17:46938646 [GRCh38]
Chr17:45016012 [GRCh37]
Chr17:17q21.32
likely benign
NM_001006607.3(LRRC37A2):c.3496A>G (p.Arg1166Gly) single nucleotide variant Inborn genetic diseases [RCV003302648] Chr17:46548635 [GRCh38]
Chr17:44626001 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.3962T>A (p.Val1321Asp) single nucleotide variant Inborn genetic diseases [RCV003309719] Chr17:46549101 [GRCh38]
Chr17:44626467 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer) duplication Developmental and epileptic encephalopathy 96 [RCV002272881] Chr17:46711081..46711082 [GRCh38]
Chr17:44788447..44788448 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.2907-1784C>T single nucleotide variant not provided [RCV002280039] Chr17:46538392 [GRCh38]
Chr17:44615758 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.260G>A (p.Arg87His) single nucleotide variant Inborn genetic diseases [RCV003287414]|not provided [RCV003779980] Chr17:46773730 [GRCh38]
Chr17:44851096 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser) single nucleotide variant Inborn genetic diseases [RCV002321454]|Progressive myoclonic epilepsy [RCV003102515] Chr17:46935098 [GRCh38]
Chr17:45012464 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.319C>G (p.Arg107Gly) single nucleotide variant Inborn genetic diseases [RCV002322936] Chr17:46932182 [GRCh38]
Chr17:45009548 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.536T>C (p.Met179Thr) single nucleotide variant Inborn genetic diseases [RCV002347060] Chr17:46938657 [GRCh38]
Chr17:45016023 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV002302942] Chr17:46935066 [GRCh38]
Chr17:45012432 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.13C>A (p.Leu5Met) single nucleotide variant Inborn genetic diseases [RCV002686616] Chr17:46818585 [GRCh38]
Chr17:44895951 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.204-8A>C single nucleotide variant Progressive myoclonic epilepsy [RCV002862917] Chr17:46932059 [GRCh38]
Chr17:45009425 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.390C>T (p.Leu130=) single nucleotide variant Progressive myoclonic epilepsy [RCV002776326] Chr17:46935082 [GRCh38]
Chr17:45012448 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.524C>T (p.Ser175Phe) single nucleotide variant Inborn genetic diseases [RCV002860121] Chr17:46938645 [GRCh38]
Chr17:45016011 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3337G>A (p.Glu1113Lys) single nucleotide variant Inborn genetic diseases [RCV002774456] Chr17:46548476 [GRCh38]
Chr17:44625842 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_006178.4(NSF):c.1246G>A (p.Gly416Arg) single nucleotide variant Inborn genetic diseases [RCV002901099] Chr17:46694534 [GRCh38]
Chr17:44771900 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.2329C>A (p.Pro777Thr) single nucleotide variant Inborn genetic diseases [RCV002754682] Chr17:46515041 [GRCh38]
Chr17:44592407 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.599G>A (p.Arg200Gln) single nucleotide variant Inborn genetic diseases [RCV003012861] Chr17:46513311 [GRCh38]
Chr17:44590677 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.710C>T (p.Ser237Leu) single nucleotide variant Inborn genetic diseases [RCV002779280] Chr17:46513422 [GRCh38]
Chr17:44590788 [GRCh37]
Chr17:17q21.31
likely benign
NM_001006607.3(LRRC37A2):c.3761G>A (p.Gly1254Asp) single nucleotide variant Inborn genetic diseases [RCV002816710] Chr17:46548900 [GRCh38]
Chr17:44626266 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.341_342del (p.Asp113_Ser114insTer) microsatellite Inborn genetic diseases [RCV002731716] Chr17:46935031..46935032 [GRCh38]
Chr17:45012397..45012398 [GRCh37]
Chr17:17q21.32
pathogenic
NM_001006607.3(LRRC37A2):c.3639G>C (p.Glu1213Asp) single nucleotide variant Inborn genetic diseases [RCV002883918] Chr17:46548778 [GRCh38]
Chr17:44626144 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV002816094] Chr17:46929540 [GRCh38]
Chr17:45006906 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV003015644] Chr17:46923195 [GRCh38]
Chr17:45000561 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.448C>G (p.Leu150Val) single nucleotide variant Inborn genetic diseases [RCV002859624] Chr17:46513160 [GRCh38]
Chr17:44590526 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.436A>G (p.Lys146Glu) single nucleotide variant not provided [RCV002755061] Chr17:46769935 [GRCh38]
Chr17:44847301 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.3640G>C (p.Val1214Leu) single nucleotide variant Inborn genetic diseases [RCV002774177] Chr17:46548779 [GRCh38]
Chr17:44626145 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.522_542dup (p.Arg183_Ser184insGluAsnArgProAspAlaArg) duplication not provided [RCV002731636] Chr17:46769828..46769829 [GRCh38]
Chr17:44847194..44847195 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.30-12T>C single nucleotide variant Progressive myoclonic epilepsy [RCV003076418] Chr17:46929508 [GRCh38]
Chr17:45006874 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.179T>G (p.Leu60Arg) single nucleotide variant not provided [RCV003017123] Chr17:46872618 [GRCh38]
Chr17:44949984 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3670G>A (p.Glu1224Lys) single nucleotide variant Inborn genetic diseases [RCV002727520] Chr17:46548809 [GRCh38]
Chr17:44626175 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.3712A>C (p.Thr1238Pro) single nucleotide variant Inborn genetic diseases [RCV002749825] Chr17:46548851 [GRCh38]
Chr17:44626217 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV002996172] Chr17:46935075 [GRCh38]
Chr17:45012441 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.396C>T (p.Ala132=) single nucleotide variant not provided [RCV002785828] Chr17:46769975 [GRCh38]
Chr17:44847341 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.323-7C>T single nucleotide variant not provided [RCV002695128] Chr17:46770055 [GRCh38]
Chr17:44847421 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.262C>T (p.Gln88Ter) single nucleotide variant Progressive myoclonic epilepsy [RCV003055173] Chr17:46932125 [GRCh38]
Chr17:45009491 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.300G>A (p.Gln100=) single nucleotide variant Progressive myoclonic epilepsy [RCV002889837] Chr17:46932163 [GRCh38]
Chr17:45009529 [GRCh37]
Chr17:17q21.32
likely benign
NM_006178.4(NSF):c.2071C>T (p.Arg691Cys) single nucleotide variant Inborn genetic diseases [RCV002888725] Chr17:46751530 [GRCh38]
Chr17:44828896 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.80+3A>C single nucleotide variant not provided [RCV002871172] Chr17:46818515 [GRCh38]
Chr17:44895881 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.464G>C (p.Trp155Ser) single nucleotide variant not provided [RCV002867789] Chr17:46769907 [GRCh38]
Chr17:44847273 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.234G>A (p.Leu78=) single nucleotide variant not provided [RCV002867595] Chr17:46872673 [GRCh38]
Chr17:44950039 [GRCh37]
Chr17:17q21.32
likely benign
NM_001006607.3(LRRC37A2):c.740C>T (p.Pro247Leu) single nucleotide variant Inborn genetic diseases [RCV002868894] Chr17:46513452 [GRCh38]
Chr17:44590818 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.253C>T (p.Arg85Trp) single nucleotide variant not provided [RCV003018263] Chr17:46773737 [GRCh38]
Chr17:44851103 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.161A>G (p.Lys54Arg) single nucleotide variant not provided [RCV002569725] Chr17:46773829 [GRCh38]
Chr17:44851195 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met) single nucleotide variant Progressive myoclonic epilepsy [RCV002622221] Chr17:46935046 [GRCh38]
Chr17:45012412 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.204-9C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002824952] Chr17:46932058 [GRCh38]
Chr17:45009424 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.203+8C>G single nucleotide variant Progressive myoclonic epilepsy [RCV003078260] Chr17:46931215 [GRCh38]
Chr17:45008581 [GRCh37]
Chr17:17q21.32
likely benign
NM_001006607.3(LRRC37A2):c.3953C>T (p.Thr1318Ile) single nucleotide variant Inborn genetic diseases [RCV002797842] Chr17:46549092 [GRCh38]
Chr17:44626458 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.323C>A (p.Pro108Gln) single nucleotide variant Inborn genetic diseases [RCV003001638] Chr17:46513035 [GRCh38]
Chr17:44590401 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.1979G>A (p.Arg660Gln) single nucleotide variant Inborn genetic diseases [RCV002868893] Chr17:46514691 [GRCh38]
Chr17:44592057 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.985T>C (p.Phe329Leu) single nucleotide variant Inborn genetic diseases [RCV002870042] Chr17:46876629 [GRCh38]
Chr17:44953995 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.94+12A>T single nucleotide variant Progressive myoclonic epilepsy [RCV002795653] Chr17:46929596 [GRCh38]
Chr17:45006962 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.106G>A (p.Glu36Lys) single nucleotide variant Progressive myoclonic epilepsy [RCV002948904] Chr17:46931110 [GRCh38]
Chr17:45008476 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.4274C>A (p.Ala1425Glu) single nucleotide variant Inborn genetic diseases [RCV002704189] Chr17:46549413 [GRCh38]
Chr17:44626779 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.642C>T (p.Ser214=) single nucleotide variant not provided [RCV002621889] Chr17:46768746 [GRCh38]
Chr17:44846112 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.29+13C>A single nucleotide variant Progressive myoclonic epilepsy [RCV002570890] Chr17:46923234 [GRCh38]
Chr17:45000600 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.413T>C (p.Ile138Thr) single nucleotide variant Inborn genetic diseases [RCV002888160] Chr17:46769958 [GRCh38]
Chr17:44847324 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.121A>G (p.Ile41Val) single nucleotide variant Progressive myoclonic epilepsy [RCV002700616]|not provided [RCV003134480] Chr17:46931125 [GRCh38]
Chr17:45008491 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.260T>C (p.Leu87Pro) single nucleotide variant Inborn genetic diseases [RCV002986520] Chr17:46512972 [GRCh38]
Chr17:44590338 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.259C>T (p.Arg87Cys) single nucleotide variant Inborn genetic diseases [RCV003005780]|not provided [RCV003005779] Chr17:46773731 [GRCh38]
Chr17:44851097 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.322+20G>T single nucleotide variant not provided [RCV002786501] Chr17:46773648 [GRCh38]
Chr17:44851014 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.29+17G>A single nucleotide variant Progressive myoclonic epilepsy [RCV002745404] Chr17:46923238 [GRCh38]
Chr17:45000604 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.528C>A (p.Arg176=) single nucleotide variant not provided [RCV003026206] Chr17:46769843 [GRCh38]
Chr17:44847209 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV002597312] Chr17:46938599 [GRCh38]
Chr17:45015965 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.169A>G (p.Lys57Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV002801097] Chr17:46931173 [GRCh38]
Chr17:45008539 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.518C>T (p.Ala173Val) single nucleotide variant Inborn genetic diseases [RCV002955179]|not provided [RCV003777991] Chr17:46769853 [GRCh38]
Chr17:44847219 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002853276] Chr17:46935129 [GRCh38]
Chr17:45012495 [GRCh37]
Chr17:17q21.32
benign
NM_004287.5(GOSR2):c.162G>T (p.Leu54Phe) single nucleotide variant Progressive myoclonic epilepsy [RCV002918161] Chr17:46931166 [GRCh38]
Chr17:45008532 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.5072C>T (p.Thr1691Met) single nucleotide variant Inborn genetic diseases [RCV003006856] Chr17:46555548 [GRCh38]
Chr17:44632914 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser) single nucleotide variant Progressive myoclonic epilepsy [RCV002801979] Chr17:46935072 [GRCh38]
Chr17:45012438 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3073G>A (p.Ala1025Thr) single nucleotide variant Inborn genetic diseases [RCV002708620] Chr17:46546274 [GRCh38]
Chr17:44623640 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.15C>T (p.Phe5=) single nucleotide variant Progressive myoclonic epilepsy [RCV002917354] Chr17:46923207 [GRCh38]
Chr17:45000573 [GRCh37]
Chr17:17q21.32
likely benign
NM_001006607.3(LRRC37A2):c.4348G>A (p.Val1450Met) single nucleotide variant Inborn genetic diseases [RCV002709180] Chr17:46549487 [GRCh38]
Chr17:44626853 [GRCh37]
Chr17:17q21.31
likely benign
NM_006178.4(NSF):c.2009T>C (p.Ile670Thr) single nucleotide variant Inborn genetic diseases [RCV002929793] Chr17:46749873 [GRCh38]
Chr17:44827239 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_203400.5(RPRML):c.5A>T (p.Asn2Ile) single nucleotide variant Inborn genetic diseases [RCV002788543] Chr17:46979003 [GRCh38]
Chr17:45056369 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.484G>T (p.Ala162Ser) single nucleotide variant not provided [RCV002852076] Chr17:46769887 [GRCh38]
Chr17:44847253 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.731C>T (p.Ser244Leu) single nucleotide variant WNT9B-related condition [RCV003961251]|not provided [RCV002957498] Chr17:46876375 [GRCh38]
Chr17:44953741 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_001006607.3(LRRC37A2):c.2466C>G (p.His822Gln) single nucleotide variant Inborn genetic diseases [RCV002789597] Chr17:46515178 [GRCh38]
Chr17:44592544 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG microsatellite Progressive myoclonic epilepsy [RCV002852904] Chr17:46938591..46938592 [GRCh38]
Chr17:45015957..45015958 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.376G>A (p.Ala126Thr) single nucleotide variant not provided [RCV003057382] Chr17:46875142 [GRCh38]
Chr17:44952508 [GRCh37]
Chr17:17q21.32
benign
NM_030753.5(WNT3):c.322+20G>C single nucleotide variant not provided [RCV002625425] Chr17:46773648 [GRCh38]
Chr17:44851014 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.573C>T (p.Asp191=) single nucleotide variant not provided [RCV002623985] Chr17:46875339 [GRCh38]
Chr17:44952705 [GRCh37]
Chr17:17q21.32
benign
NM_001006607.3(LRRC37A2):c.3091T>C (p.Phe1031Leu) single nucleotide variant Inborn genetic diseases [RCV002957079] Chr17:46546292 [GRCh38]
Chr17:44623658 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.478-6C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002875740] Chr17:46938593 [GRCh38]
Chr17:45015959 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.81-10C>T single nucleotide variant not provided [RCV002741781] Chr17:46773919 [GRCh38]
Chr17:44851285 [GRCh37]
Chr17:17q21.31
likely benign
NM_001006607.3(LRRC37A2):c.3028A>G (p.Met1010Val) single nucleotide variant Inborn genetic diseases [RCV002699497] Chr17:46540856 [GRCh38]
Chr17:44618222 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.3469G>C (p.Val1157Leu) single nucleotide variant Inborn genetic diseases [RCV003004574] Chr17:46548608 [GRCh38]
Chr17:44625974 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr) single nucleotide variant Progressive myoclonic epilepsy [RCV002741716] Chr17:46938645 [GRCh38]
Chr17:45016011 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.4269T>G (p.His1423Gln) single nucleotide variant Inborn genetic diseases [RCV002699361] Chr17:46549408 [GRCh38]
Chr17:44626774 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.122T>G (p.Ile41Arg) single nucleotide variant not provided [RCV002508696] Chr17:46931126 [GRCh38]
Chr17:45008492 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.588+20C>T single nucleotide variant not provided [RCV002594908] Chr17:46769763 [GRCh38]
Chr17:44847129 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.831C>T (p.Tyr277=) single nucleotide variant not provided [RCV002575718] Chr17:46768557 [GRCh38]
Chr17:44845923 [GRCh37]
Chr17:17q21.31
likely benign
NM_001006607.3(LRRC37A2):c.4777A>T (p.Thr1593Ser) single nucleotide variant Inborn genetic diseases [RCV002956934] Chr17:46550487 [GRCh38]
Chr17:44627853 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile) single nucleotide variant Progressive myoclonic epilepsy [RCV002931827] Chr17:46935089 [GRCh38]
Chr17:45012455 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.5079G>T (p.Glu1693Asp) single nucleotide variant Inborn genetic diseases [RCV002939466] Chr17:46555555 [GRCh38]
Chr17:44632921 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.398G>A (p.Arg133Gln) single nucleotide variant not provided [RCV003089891] Chr17:46875164 [GRCh38]
Chr17:44952530 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.92A>G (p.His31Arg) single nucleotide variant Progressive myoclonic epilepsy [RCV003047407] Chr17:46929582 [GRCh38]
Chr17:45006948 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.680A>T (p.Gln227Leu) single nucleotide variant Inborn genetic diseases [RCV002940741] Chr17:46876324 [GRCh38]
Chr17:44953690 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.701C>T (p.Thr234Met) single nucleotide variant not provided [RCV002921911] Chr17:46876345 [GRCh38]
Chr17:44953711 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.688A>G (p.Ile230Val) single nucleotide variant not provided [RCV002716190] Chr17:46768700 [GRCh38]
Chr17:44846066 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.594C>T (p.Gly198=) single nucleotide variant WNT9B-related condition [RCV003936406]|not provided [RCV002938116] Chr17:46875360 [GRCh38]
Chr17:44952726 [GRCh37]
Chr17:17q21.32
benign|likely benign
NM_001006607.3(LRRC37A2):c.3791C>A (p.Ala1264Asp) single nucleotide variant Inborn genetic diseases [RCV002746838] Chr17:46548930 [GRCh38]
Chr17:44626296 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.405C>G (p.Cys135Trp) single nucleotide variant not provided [RCV003028549] Chr17:46875171 [GRCh38]
Chr17:44952537 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.588+8del deletion not provided [RCV002857477] Chr17:46769775 [GRCh38]
Chr17:44847141 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.10C>T (p.Leu4=) single nucleotide variant Progressive myoclonic epilepsy [RCV002650335] Chr17:46923202 [GRCh38]
Chr17:45000568 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.378C>T (p.Ala126=) single nucleotide variant not provided [RCV002601097] Chr17:46769993 [GRCh38]
Chr17:44847359 [GRCh37]
Chr17:17q21.31
likely benign
NM_001006607.3(LRRC37A2):c.5013G>T (p.Lys1671Asn) single nucleotide variant Inborn genetic diseases [RCV002835943] Chr17:46555383 [GRCh38]
Chr17:44632749 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu) single nucleotide variant Progressive myoclonic epilepsy [RCV003047612] Chr17:46923198 [GRCh38]
Chr17:45000564 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro) single nucleotide variant Progressive myoclonic epilepsy [RCV002746620] Chr17:46938717 [GRCh38]
Chr17:45016083 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.710A>G (p.Lys237Arg) single nucleotide variant not provided [RCV002857486] Chr17:46768678 [GRCh38]
Chr17:44846044 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_203400.5(RPRML):c.55G>A (p.Gly19Ser) single nucleotide variant Inborn genetic diseases [RCV002808290] Chr17:46978953 [GRCh38]
Chr17:45056319 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3917G>A (p.Arg1306His) single nucleotide variant Inborn genetic diseases [RCV002855964] Chr17:46549056 [GRCh38]
Chr17:44626422 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.589-7C>G single nucleotide variant not provided [RCV003027074] Chr17:46768806 [GRCh38]
Chr17:44846172 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.30-20C>T single nucleotide variant Progressive myoclonic epilepsy [RCV002676071] Chr17:46929500 [GRCh38]
Chr17:45006866 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.454G>A (p.Glu152Lys) single nucleotide variant not provided [RCV002962932] Chr17:46875220 [GRCh38]
Chr17:44952586 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.2610-131G>C single nucleotide variant Inborn genetic diseases [RCV002713886] Chr17:46517231 [GRCh38]
Chr17:44594597 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_203400.5(RPRML):c.31T>G (p.Leu11Val) single nucleotide variant Inborn genetic diseases [RCV002940418] Chr17:46978977 [GRCh38]
Chr17:45056343 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.3242C>T (p.Thr1081Ile) single nucleotide variant Inborn genetic diseases [RCV002652405] Chr17:46548381 [GRCh38]
Chr17:44625747 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.552G>C (p.Ser184=) single nucleotide variant not provided [RCV002606383] Chr17:46769819 [GRCh38]
Chr17:44847185 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs) duplication Progressive myoclonic epilepsy [RCV003051682] Chr17:46935151..46935152 [GRCh38]
Chr17:45012517..45012518 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.323-13G>T single nucleotide variant not provided [RCV002608431] Chr17:46770061 [GRCh38]
Chr17:44847427 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr) single nucleotide variant Progressive myoclonic epilepsy [RCV002654791] Chr17:46938615 [GRCh38]
Chr17:45015981 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.423G>A (p.Glu141=) single nucleotide variant not provided [RCV002633227] Chr17:46875189 [GRCh38]
Chr17:44952555 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.461G>C (p.Arg154Pro) single nucleotide variant not provided [RCV002590292] Chr17:46875227 [GRCh38]
Chr17:44952593 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_203400.5(RPRML):c.38A>C (p.Glu13Ala) single nucleotide variant Inborn genetic diseases [RCV002724957] Chr17:46978970 [GRCh38]
Chr17:45056336 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.302G>A (p.Arg101Gln) single nucleotide variant Progressive myoclonic epilepsy [RCV002606642] Chr17:46932165 [GRCh38]
Chr17:45009531 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.627G>C (p.Gln209His) single nucleotide variant not provided [RCV003154441] Chr17:46938748 [GRCh38]
Chr17:45016114 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.8C>T (p.Pro3Leu) single nucleotide variant Inborn genetic diseases [RCV003209533] Chr17:46923200 [GRCh38]
Chr17:45000566 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.176C>A (p.Pro59His) single nucleotide variant Inborn genetic diseases [RCV003217464] Chr17:46931180 [GRCh38]
Chr17:45008546 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.1A>C (p.Met1Leu) single nucleotide variant Hearing loss, autosomal recessive [RCV003226606]|not provided [RCV003882740] Chr17:46923193 [GRCh38]
Chr17:45000559 [GRCh37]
Chr17:17q21.32
likely pathogenic|uncertain significance
NM_001006607.3(LRRC37A2):c.5068C>T (p.Pro1690Ser) single nucleotide variant Inborn genetic diseases [RCV003176243] Chr17:46555544 [GRCh38]
Chr17:44632910 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.5A>C (p.Asp2Ala) single nucleotide variant not provided [RCV003135427] Chr17:46923197 [GRCh38]
Chr17:45000563 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001006607.3(LRRC37A2):c.97C>G (p.Leu33Val) single nucleotide variant Inborn genetic diseases [RCV003203562] Chr17:46512809 [GRCh38]
Chr17:44590175 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.53G>T (p.Cys18Phe) single nucleotide variant Inborn genetic diseases [RCV003282841] Chr17:46929543 [GRCh38]
Chr17:45006909 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_006178.4(NSF):c.1031C>T (p.Thr344Met) single nucleotide variant Inborn genetic diseases [RCV003203197] Chr17:46692988 [GRCh38]
Chr17:44770354 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.2275C>T (p.Pro759Ser) single nucleotide variant Inborn genetic diseases [RCV003218337] Chr17:46514987 [GRCh38]
Chr17:44592353 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_006178.4(NSF):c.1078G>T (p.Gly360Cys) single nucleotide variant Developmental and epileptic encephalopathy 96 [RCV003225009] Chr17:46693035 [GRCh38]
Chr17:44770401 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg) single nucleotide variant Developmental and epileptic encephalopathy 96 [RCV003133080] Chr17:46713913 [GRCh38]
Chr17:44791279 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_001321133.2(GOSR2):c.750A>G (p.Leu250=) single nucleotide variant not provided [RCV003334202] Chr17:46966700 [GRCh38]
Chr17:45044066 [GRCh37]
Chr17:17q21.32
benign
NM_001006607.3(LRRC37A2):c.3440C>T (p.Thr1147Ile) single nucleotide variant Inborn genetic diseases [RCV003371285] Chr17:46548579 [GRCh38]
Chr17:44625945 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.305C>T (p.Ser102Leu) single nucleotide variant Inborn genetic diseases [RCV003361264] Chr17:46513017 [GRCh38]
Chr17:44590383 [GRCh37]
Chr17:17q21.31
likely benign
NM_001006607.3(LRRC37A2):c.4390C>T (p.Pro1464Ser) single nucleotide variant Inborn genetic diseases [RCV003355060] Chr17:46549529 [GRCh38]
Chr17:44626895 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_001006607.3(LRRC37A2):c.3619G>A (p.Gly1207Arg) single nucleotide variant Inborn genetic diseases [RCV003353437] Chr17:46548758 [GRCh38]
Chr17:44626124 [GRCh37]
Chr17:17q21.31
likely benign
NM_003396.3(WNT9B):c.808C>T (p.Leu270Phe) single nucleotide variant Inborn genetic diseases [RCV003345575] Chr17:46876452 [GRCh38]
Chr17:44953818 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.320G>T (p.Gly107Val) single nucleotide variant Inborn genetic diseases [RCV003360212] Chr17:46872759 [GRCh38]
Chr17:44950125 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_006178.4(NSF):c.1937C>G (p.Thr646Ser) single nucleotide variant not provided [RCV003419761] Chr17:46749801 [GRCh38]
Chr17:44827167 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_003396.3(WNT9B):c.85G>A (p.Gly29Arg) single nucleotide variant not provided [RCV003419762] Chr17:46872524 [GRCh38]
Chr17:44949890 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.416G>A (p.Arg139His) single nucleotide variant Inborn genetic diseases [RCV003372071] Chr17:46875182 [GRCh38]
Chr17:44952548 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.875G>A (p.Arg292Gln) single nucleotide variant not provided [RCV003874937] Chr17:46876519 [GRCh38]
Chr17:44953885 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.94G>A (p.Gly32Ser) single nucleotide variant not provided [RCV003571135] Chr17:46773896 [GRCh38]
Chr17:44851262 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_006178.4(NSF):c.1296G>A (p.Glu432=) single nucleotide variant not provided [RCV003428316] Chr17:46694584 [GRCh38]
Chr17:44771950 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.258C>T (p.Gly86=) single nucleotide variant not provided [RCV003428319] Chr17:46773732 [GRCh38]
Chr17:44851098 [GRCh37]
Chr17:17q21.31
likely benign
NM_006178.4(NSF):c.2125A>C (p.Lys709Gln) single nucleotide variant not provided [RCV003428318] Chr17:46751584 [GRCh38]
Chr17:44828950 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_006178.4(NSF):c.951T>A (p.Gly317=) single nucleotide variant not provided [RCV003419760] Chr17:46692908 [GRCh38]
Chr17:44770274 [GRCh37]
Chr17:17q21.31
likely benign
NM_006178.4(NSF):c.1291G>A (p.Val431Met) single nucleotide variant not provided [RCV003428315] Chr17:46694579 [GRCh38]
Chr17:44771945 [GRCh37]
Chr17:17q21.31
likely benign
NM_006178.4(NSF):c.1825C>T (p.Leu609Phe) single nucleotide variant not provided [RCV003428317] Chr17:46726612 [GRCh38]
Chr17:44803978 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.80+10G>A single nucleotide variant not provided [RCV003689454] Chr17:46818508 [GRCh38]
Chr17:44895874 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.828C>T (p.Tyr276=) single nucleotide variant not provided [RCV003686707] Chr17:46768560 [GRCh38]
Chr17:44845926 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.318C>T (p.Asp106=) single nucleotide variant not provided [RCV003544011] Chr17:46773672 [GRCh38]
Chr17:44851038 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.877T>G (p.Phe293Val) single nucleotide variant not provided [RCV003580548] Chr17:46768511 [GRCh38]
Chr17:44845877 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.540G>A (p.Pro180=) single nucleotide variant not provided [RCV003697968] Chr17:46769831 [GRCh38]
Chr17:44847197 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.444G>T (p.Pro148=) single nucleotide variant not provided [RCV003833416] Chr17:46769927 [GRCh38]
Chr17:44847293 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.81-17C>A single nucleotide variant not provided [RCV003840360] Chr17:46773926 [GRCh38]
Chr17:44851292 [GRCh37]
Chr17:17q21.31
likely benign
NM_030753.5(WNT3):c.810G>A (p.Thr270=) single nucleotide variant not provided [RCV003561355] Chr17:46768578 [GRCh38]
Chr17:44845944 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.336+20A>C single nucleotide variant Progressive myoclonic epilepsy [RCV003855718] Chr17:46932219 [GRCh38]
Chr17:45009585 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.609C>T (p.Val203=) single nucleotide variant Progressive myoclonic epilepsy [RCV003817026] Chr17:46938730 [GRCh38]
Chr17:45016096 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.997A>G (p.Ile333Val) single nucleotide variant not provided [RCV003701085] Chr17:46768391 [GRCh38]
Chr17:44845757 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_004287.5(GOSR2):c.186_187del (p.Arg63fs) deletion Progressive myoclonic epilepsy [RCV003583787] Chr17:46931188..46931189 [GRCh38]
Chr17:45008554..45008555 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.480G>T (p.Gly160=) single nucleotide variant Progressive myoclonic epilepsy [RCV003583793] Chr17:46938601 [GRCh38]
Chr17:45015967 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.375C>T (p.Ala125=) single nucleotide variant not provided [RCV003816793] Chr17:46875141 [GRCh38]
Chr17:44952507 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.30-10_30-7del deletion Progressive myoclonic epilepsy [RCV003854485] Chr17:46929507..46929510 [GRCh38]
Chr17:45006873..45006876 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.355G>A (p.Ala119Thr) single nucleotide variant not provided [RCV003723549] Chr17:46770016 [GRCh38]
Chr17:44847382 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_030753.5(WNT3):c.690C>T (p.Ile230=) single nucleotide variant not provided [RCV003725144] Chr17:46768698 [GRCh38]
Chr17:44846064 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.336+7C>A single nucleotide variant Progressive myoclonic epilepsy [RCV003850709] Chr17:46932206 [GRCh38]
Chr17:45009572 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.30-4A>G single nucleotide variant Progressive myoclonic epilepsy [RCV003833272] Chr17:46929516 [GRCh38]
Chr17:45006882 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.565C>T (p.Arg189Trp) single nucleotide variant not provided [RCV003554293] Chr17:46875331 [GRCh38]
Chr17:44952697 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.221dup (p.Tyr75fs) duplication Progressive myoclonic epilepsy [RCV003746851] Chr17:46932081..46932082 [GRCh38]
Chr17:45009447..45009448 [GRCh37]
Chr17:17q21.32
pathogenic
NM_004287.5(GOSR2):c.204-17C>G single nucleotide variant Progressive myoclonic epilepsy [RCV003746340] Chr17:46932050 [GRCh38]
Chr17:45009416 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.16C>T (p.Leu6Phe) single nucleotide variant not provided [RCV003871070] Chr17:46818582 [GRCh38]
Chr17:44895948 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.597C>G (p.Ile199Met) single nucleotide variant not provided [RCV003737230] Chr17:46875363 [GRCh38]
Chr17:44952729 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_030753.5(WNT3):c.717C>T (p.Asp239=) single nucleotide variant not provided [RCV003684509] Chr17:46768671 [GRCh38]
Chr17:44846037 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.203+17G>T single nucleotide variant Progressive myoclonic epilepsy [RCV003747457] Chr17:46931224 [GRCh38]
Chr17:45008590 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.219A>G (p.Leu73=) single nucleotide variant Progressive myoclonic epilepsy [RCV003746911] Chr17:46932082 [GRCh38]
Chr17:45009448 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.766T>C (p.Leu256=) single nucleotide variant not provided [RCV003550432] Chr17:46876410 [GRCh38]
Chr17:44953776 [GRCh37]
Chr17:17q21.32
likely benign
NM_004287.5(GOSR2):c.618C>T (p.Leu206=) single nucleotide variant Progressive myoclonic epilepsy [RCV003823263] Chr17:46938739 [GRCh38]
Chr17:45016105 [GRCh37]
Chr17:17q21.32
likely benign
NM_030753.5(WNT3):c.73A>G (p.Ile25Val) single nucleotide variant not provided [RCV003860523] Chr17:46818525 [GRCh38]
Chr17:44895891 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.974G>A (p.Arg325His) single nucleotide variant not provided [RCV003556401] Chr17:46876618 [GRCh38]
Chr17:44953984 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_003396.3(WNT9B):c.588C>T (p.His196=) single nucleotide variant WNT9B-related condition [RCV003909121]|not provided [RCV003731209] Chr17:46875354 [GRCh38]
Chr17:44952720 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.188G>A (p.Arg63Gln) single nucleotide variant not provided [RCV003727513] Chr17:46872627 [GRCh38]
Chr17:44949993 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.337-13_337-12del microsatellite Progressive myoclonic epilepsy [RCV003861306] Chr17:46935013..46935014 [GRCh38]
Chr17:45012379..45012380 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.4C>A (p.Arg2Ser) single nucleotide variant not provided [RCV003683279] Chr17:46851642 [GRCh38]
Chr17:44929008 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_001320458.2(WNT9B):c.961G>A (p.Ala321Thr) single nucleotide variant WNT9B-related condition [RCV003973810] Chr17:46885090 [GRCh38]
Chr17:44962456 [GRCh37]
Chr17:17q21.32
benign
NM_006178.4(NSF):c.1516G>A (p.Gly506Ser) single nucleotide variant not provided [RCV003885994] Chr17:46711008 [GRCh38]
Chr17:44788374 [GRCh37]
Chr17:17q21.31
likely benign
NM_004287.5(GOSR2):c.477+27G>A single nucleotide variant GOSR2-related condition [RCV003909627] Chr17:46935196 [GRCh38]
Chr17:45012562 [GRCh37]
Chr17:17q21.32
likely benign
NM_001320458.2(WNT9B):c.905-5C>T single nucleotide variant WNT9B-related condition [RCV003907084] Chr17:46885029 [GRCh38]
Chr17:44962395 [GRCh37]
Chr17:17q21.32
benign
NM_003396.3(WNT9B):c.335-7G>C single nucleotide variant WNT9B-related condition [RCV003926782] Chr17:46875094 [GRCh38]
Chr17:44952460 [GRCh37]
Chr17:17q21.32
likely benign
NM_001320458.2(WNT9B):c.963G>A (p.Ala321=) single nucleotide variant WNT9B-related condition [RCV003926857] Chr17:46885092 [GRCh38]
Chr17:44962458 [GRCh37]
Chr17:17q21.32
likely benign
NM_001320458.2(WNT9B):c.905-4G>A single nucleotide variant WNT9B-related condition [RCV003944753] Chr17:46885030 [GRCh38]
Chr17:44962396 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.135G>C (p.Pro45=) single nucleotide variant WNT9B-related condition [RCV003934409] Chr17:46872574 [GRCh38]
Chr17:44949940 [GRCh37]
Chr17:17q21.32
likely benign
NM_001321133.2(GOSR2):c.584-4G>T single nucleotide variant GOSR2-related condition [RCV003954341] Chr17:46966530 [GRCh38]
Chr17:45043896 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.290G>A (p.Arg97His) single nucleotide variant WNT9B-related condition [RCV003943920] Chr17:46872729 [GRCh38]
Chr17:44950095 [GRCh37]
Chr17:17q21.32
likely benign
NM_001320458.2(WNT9B):c.981G>T (p.Leu327=) single nucleotide variant WNT9B-related condition [RCV003914513] Chr17:46885110 [GRCh38]
Chr17:44962476 [GRCh37]
Chr17:17q21.32
benign
NM_001321133.2(GOSR2):c.657C>T (p.Ser219=) single nucleotide variant GOSR2-related condition [RCV003914646] Chr17:46966607 [GRCh38]
Chr17:45043973 [GRCh37]
Chr17:17q21.32
benign
NM_001320458.2(WNT9B):c.912T>C (p.Ser304=) single nucleotide variant WNT9B-related condition [RCV003939591] Chr17:46885041 [GRCh38]
Chr17:44962407 [GRCh37]
Chr17:17q21.32
likely benign
NM_003396.3(WNT9B):c.668C>T (p.Thr223Ile) single nucleotide variant Inborn genetic diseases [RCV003359925] Chr17:46876312 [GRCh38]
Chr17:44953678 [GRCh37]
Chr17:17q21.32
uncertain significance
NM_004287.5(GOSR2):c.5A>G (p.Asp2Gly) single nucleotide variant Inborn genetic diseases [RCV003346036] Chr17:46923197 [GRCh38]
Chr17:45000563 [GRCh37]
Chr17:17q21.32
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:577
Count of miRNA genes:320
Interacting mature miRNAs:334
Transcripts:ENST00000333412, ENST00000572638, ENST00000576629
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-AA029927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371744,632,650 - 44,632,977UniSTSGRCh37
GRCh371744,414,794 - 44,415,121UniSTSGRCh37
Build 361741,770,552 - 41,770,879RGDNCBI36
Cytogenetic Map17q21.31UniSTS
GeneMap99-GB4 RH Map17332.29UniSTS
NCBI RH Map17595.9UniSTS
D10S16   No map positions available.
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 68 31 172 6 125 6 205 31 315 41 371 185 1 16 121
Low 2355 2787 1511 577 1583 420 4126 2030 3314 354 1066 1417 168 1184 2646 4
Below cutoff 9 166 39 38 232 37 24 132 79 23 11 6 1 4 21

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001006607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047436147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC217769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC217777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC217778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC217780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW149940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY386262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC088375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ649697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ592082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ790764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000333412   ⟹   ENSP00000333071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,512,710 - 46,555,650 (+)Ensembl
RefSeq Acc Id: ENST00000572638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,547,225 - 46,555,643 (+)Ensembl
RefSeq Acc Id: ENST00000576629   ⟹   ENSP00000459551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,512,468 - 46,555,646 (+)Ensembl
RefSeq Acc Id: ENST00000705813   ⟹   ENSP00000516171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,511,508 - 46,556,910 (+)Ensembl
RefSeq Acc Id: ENST00000706058   ⟹   ENSP00000516210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,512,713 - 46,555,636 (+)Ensembl
RefSeq Acc Id: ENST00000706059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,517,359 - 46,556,910 (+)Ensembl
RefSeq Acc Id: ENST00000706060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,517,359 - 46,556,910 (+)Ensembl
RefSeq Acc Id: ENST00000706061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,523,130 - 46,556,910 (+)Ensembl
RefSeq Acc Id: ENST00000706062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,545,275 - 46,556,910 (+)Ensembl
RefSeq Acc Id: ENST00000706063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,545,383 - 46,555,634 (+)Ensembl
RefSeq Acc Id: ENST00000706064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,547,191 - 46,552,155 (+)Ensembl
RefSeq Acc Id: ENST00000706065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,547,197 - 46,555,647 (+)Ensembl
RefSeq Acc Id: ENST00000706066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1746,547,202 - 46,555,628 (+)Ensembl
RefSeq Acc Id: NM_001006607   ⟹   NP_001006608
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
GRCh371744,587,323 - 44,633,016 (+)NCBI
Build 361741,945,392 - 41,988,330 (+)NCBI Archive
CHM1_11744,654,469 - 44,697,431 (+)NCBI
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385803   ⟹   NP_001372732
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,710 - 46,555,648 (+)NCBI
T2T-CHM13v2.01747,374,359 - 47,417,298 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524841   ⟹   XP_011523143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524842   ⟹   XP_011523144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524843   ⟹   XP_011523145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524844   ⟹   XP_011523146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524846   ⟹   XP_011523148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524848   ⟹   XP_011523150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,646 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524849   ⟹   XP_011523151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,548,334 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011524850   ⟹   XP_011523152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,548,364 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450773   ⟹   XP_024306541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 47,049,128 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047436141   ⟹   XP_047292097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,368 (+)NCBI
RefSeq Acc Id: XM_047436142   ⟹   XP_047292098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,468 - 46,555,368 (+)NCBI
RefSeq Acc Id: XM_047436143   ⟹   XP_047292099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,511,689 - 46,555,646 (+)NCBI
RefSeq Acc Id: XM_047436144   ⟹   XP_047292100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,511,689 - 46,555,646 (+)NCBI
RefSeq Acc Id: XM_047436145   ⟹   XP_047292101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,487,045 - 46,555,646 (+)NCBI
RefSeq Acc Id: XM_047436146   ⟹   XP_047292102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,504,511 - 46,553,342 (+)NCBI
RefSeq Acc Id: XM_047436147   ⟹   XP_047292103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,372,792 - 46,513,730 (+)NCBI
RefSeq Acc Id: XM_054316252   ⟹   XP_054172227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316253   ⟹   XP_054172228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316254   ⟹   XP_054172229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316255   ⟹   XP_054172230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316256   ⟹   XP_054172231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316257   ⟹   XP_054172232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,373,338 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316258   ⟹   XP_054172233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316259   ⟹   XP_054172234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,373,338 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316260   ⟹   XP_054172235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,409,984 (+)NCBI
RefSeq Acc Id: XM_054316261   ⟹   XP_054172236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,410,263 (+)NCBI
RefSeq Acc Id: XM_054316262   ⟹   XP_054172237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,366,158 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316263   ⟹   XP_054172238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,348,692 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316264   ⟹   XP_054172239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,348,692 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316265   ⟹   XP_054172240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,348,692 - 47,417,296 (+)NCBI
RefSeq Acc Id: XM_054316266   ⟹   XP_054172241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,234,775 - 47,375,379 (+)NCBI
RefSeq Acc Id: XR_007065300
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,372,792 - 46,513,093 (+)NCBI
RefSeq Acc Id: XR_008484824
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,374,117 - 47,910,589 (+)NCBI
RefSeq Acc Id: XR_008484825
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01747,234,775 - 47,374,742 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001006608 (Get FASTA)   NCBI Sequence Viewer  
  NP_001372732 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523143 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523144 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523145 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523146 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523148 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523150 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523151 (Get FASTA)   NCBI Sequence Viewer  
  XP_011523152 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306541 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292097 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292098 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292099 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292100 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292101 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292102 (Get FASTA)   NCBI Sequence Viewer  
  XP_047292103 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172228 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172233 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172234 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172236 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172239 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054172241 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184548 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184549 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184553 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NM11 (Get FASTA)   NCBI Sequence Viewer  
  AAI44428 (Get FASTA)   NCBI Sequence Viewer  
  AAI44429 (Get FASTA)   NCBI Sequence Viewer  
  AAR28083 (Get FASTA)   NCBI Sequence Viewer  
  BAG52406 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000459551
  ENSP00000459551.1
  ENSP00000481827.1
  ENSP00000482650.1
  ENSP00000486567.1
  ENSP00000487340.1
  ENSP00000487612.1
  ENSP00000487663.1
  ENSP00000488106.1
  ENSP00000516171.1
  ENSP00000516210
  ENSP00000516210.1
RefSeq Acc Id: NP_001006608   ⟸   NM_001006607
- Peptide Label: isoform 1 precursor
- UniProtKB: B7ZMC3 (UniProtKB/Swiss-Prot),   A6NM11 (UniProtKB/Swiss-Prot),   A0A0G2JNC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523144   ⟸   XM_011524842
- Peptide Label: isoform X2
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523145   ⟸   XM_011524843
- Peptide Label: isoform X3
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523143   ⟸   XM_011524841
- Peptide Label: isoform X1
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523146   ⟸   XM_011524844
- Peptide Label: isoform X4
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523150   ⟸   XM_011524848
- Peptide Label: isoform X7
- UniProtKB: A0A994J7J8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523148   ⟸   XM_011524846
- Peptide Label: isoform X5
- UniProtKB: A0A994J7J8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011523151   ⟸   XM_011524849
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011523152   ⟸   XM_011524850
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_024306541   ⟸   XM_024450773
- Peptide Label: isoform X15
- UniProtKB: A8MUI5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000333071   ⟸   ENST00000333412
RefSeq Acc Id: ENSP00000459551   ⟸   ENST00000576629
RefSeq Acc Id: NP_001372732   ⟸   NM_001385803
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292103   ⟸   XM_047436147
- Peptide Label: isoform X12
- UniProtKB: A0A994J7T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292101   ⟸   XM_047436145
- Peptide Label: isoform X11
- UniProtKB: Q5YKG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292102   ⟸   XM_047436146
- Peptide Label: isoform X16
- UniProtKB: B4DSF2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292099   ⟸   XM_047436143
- Peptide Label: isoform X6
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292100   ⟸   XM_047436144
- Peptide Label: isoform X8
- UniProtKB: A0A994J7J8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292097   ⟸   XM_047436141
- Peptide Label: isoform X13
- UniProtKB: A8MUI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047292098   ⟸   XM_047436142
- Peptide Label: isoform X14
- UniProtKB: A8MUI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000516171   ⟸   ENST00000705813
RefSeq Acc Id: ENSP00000516210   ⟸   ENST00000706058
RefSeq Acc Id: XP_054172241   ⟸   XM_054316266
- Peptide Label: isoform X12
- UniProtKB: A0A994J7T3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172238   ⟸   XM_054316263
- Peptide Label: isoform X11
- UniProtKB: Q5YKG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172239   ⟸   XM_054316264
- Peptide Label: isoform X20
- UniProtKB: Q5YKG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172240   ⟸   XM_054316265
- Peptide Label: isoform X21
- UniProtKB: A0A994J7H6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172237   ⟸   XM_054316262
- Peptide Label: isoform X19
- UniProtKB: Q5YKG5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172232   ⟸   XM_054316257
- Peptide Label: isoform X6
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172234   ⟸   XM_054316259
- Peptide Label: isoform X8
- UniProtKB: A0A994J7J8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172228   ⟸   XM_054316253
- Peptide Label: isoform X2
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172229   ⟸   XM_054316254
- Peptide Label: isoform X3
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172227   ⟸   XM_054316252
- Peptide Label: isoform X1
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172230   ⟸   XM_054316255
- Peptide Label: isoform X4
- UniProtKB: A0A0G2JNC9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172233   ⟸   XM_054316258
- Peptide Label: isoform X7
- UniProtKB: A0A994J7J8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172231   ⟸   XM_054316256
- Peptide Label: isoform X5
- UniProtKB: A0A994J7J8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054172236   ⟸   XM_054316261
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054172235   ⟸   XM_054316260
- Peptide Label: isoform X9
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NM11-F1-model_v2 AlphaFold A6NM11 1-1700 view protein structure

Promoters
RGD ID:7235365
Promoter ID:EPDNEW_H23428
Type:initiation region
Name:LRRC37A2_3
Description:leucine rich repeat containing 37 member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23425  EPDNEW_H23429  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,487,070 - 46,487,130EPDNEW
RGD ID:7235367
Promoter ID:EPDNEW_H23429
Type:initiation region
Name:LRRC37A2_2
Description:leucine rich repeat containing 37 member A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23425  EPDNEW_H23428  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381746,512,710 - 46,512,770EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32404 AgrOrtholog
COSMIC LRRC37A2 COSMIC
Ensembl Genes ENSG00000238083 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274332 UniProtKB/TrEMBL
  ENSG00000277221 UniProtKB/TrEMBL
Ensembl Transcript ENST00000576629 ENTREZGENE
  ENST00000576629.6 UniProtKB/Swiss-Prot
  ENST00000611862.1 UniProtKB/TrEMBL
  ENST00000614665.3 UniProtKB/TrEMBL
  ENST00000629060.2 UniProtKB/TrEMBL
  ENST00000629709.1 UniProtKB/TrEMBL
  ENST00000631492.1 UniProtKB/TrEMBL
  ENST00000632864.1 UniProtKB/TrEMBL
  ENST00000633100.1 UniProtKB/TrEMBL
  ENST00000705813.1 UniProtKB/TrEMBL
  ENST00000706058 ENTREZGENE
  ENST00000706058.1 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000238083 GTEx
  ENSG00000274332 GTEx
  ENSG00000277221 GTEx
HGNC ID HGNC:32404 ENTREZGENE
Human Proteome Map LRRC37A2 Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37AB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:474170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 474170 ENTREZGENE
OMIM 616556 OMIM
PANTHER LEUCINE-RICH REPEAT-CONTAINING PROTEIN 37A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23045 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRRC37AB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162394530 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_TYP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP L domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JNC9 ENTREZGENE
  A0A0G2JNP1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JP19_HUMAN UniProtKB/TrEMBL
  A0A0G2JRA3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JS48_HUMAN UniProtKB/TrEMBL
  A0A0J9YVP4_HUMAN UniProtKB/TrEMBL
  A0A0J9YVT7_HUMAN UniProtKB/TrEMBL
  A0A0J9YWT4_HUMAN UniProtKB/TrEMBL
  A0A994J7H6 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J7J8 ENTREZGENE, UniProtKB/TrEMBL
  A0A994J7T3 ENTREZGENE
  A6NM11 ENTREZGENE
  A8MUI5 ENTREZGENE
  B4DSF2 ENTREZGENE
  B7ZMC3 ENTREZGENE
  B7ZMC4_HUMAN UniProtKB/TrEMBL
  L37A2_HUMAN UniProtKB/Swiss-Prot
  Q5YKG5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B7ZMC3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 LRRC37A2  leucine rich repeat containing 37 member A2    leucine-rich repeat containing 37 member A2  Symbol and/or name change 5135510 APPROVED
2015-11-24 LRRC37A2  leucine-rich repeat containing 37 member A2    leucine rich repeat containing 37, member A2  Symbol and/or name change 5135510 APPROVED