MVP-DT (MVP divergent transcript) - Rat Genome Database

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Gene: MVP-DT (MVP divergent transcript) Homo sapiens
Analyze
Symbol: MVP-DT
Name: MVP divergent transcript
RGD ID: 38612027
HGNC Page HGNC:56029
Description: ASSOCIATED WITH Autism; autism spectrum disorder; Autistic behavior
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC112268170; oleosin-B6; oleosin-B6-like; translation initiation factor IF-2; translation initiation factor IF-2-like; uncharacterized LOC112268170
RGD Orthologs
Bonobo
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,808,644 - 29,820,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,808,636 - 29,821,252 (-)EnsemblGRCh38hg38GRCh38
Cytogenetic Map16p11.2NCBI
T2T-CHM13v2.01630,090,810 - 30,102,527 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:14702039  


Genomics

Comparative Map Data
MVP-DT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381629,808,644 - 29,820,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1629,808,636 - 29,821,252 (-)EnsemblGRCh38hg38GRCh38
Cytogenetic Map16p11.2NCBI
T2T-CHM13v2.01630,090,810 - 30,102,527 (-)NCBIT2T-CHM13v2.0
MVP-DT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11635,663,837 - 35,665,972 (+)NCBINHGRI_mPanPan1

Variants

.
Variants in MVP-DT
515 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1 copy number loss See cases [RCV000134460] Chr16:29634999..30185969 [GRCh38]
Chr16:29646320..30197290 [GRCh37]
Chr16:29553821..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3 copy number gain See cases [RCV000137618] Chr16:29427948..30320693 [GRCh38]
Chr16:29439269..30332014 [GRCh37]
Chr16:29346770..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1 copy number loss See cases [RCV000138036] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1 copy number loss See cases [RCV000138443] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1 copy number loss See cases [RCV000138508] Chr16:29581470..30179272 [GRCh38]
Chr16:29592791..30190593 [GRCh37]
Chr16:29500292..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
NM_002383.4(MAZ):c.1280-385G>A single nucleotide variant Inborn genetic diseases [RCV003267035] Chr16:29809692 [GRCh38]
Chr16:29821013 [GRCh37]
Chr16:16p11.2		 uncertain significance
Single allele deletion Chromosome 16p11.2 duplication syndrome [RCV002280356] Chr16:29663598..30188229 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1 copy number loss See cases [RCV000134450] Chr16:29645363..30185969 [GRCh38]
Chr16:29656684..30197290 [GRCh37]
Chr16:29564185..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1 copy number loss See cases [RCV000135589] Chr16:29581462..30691912 [GRCh38]
Chr16:29592783..30703233 [GRCh37]
Chr16:29500284..30610734 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1 copy number loss See cases [RCV000136137] Chr16:29662633..30186020 [GRCh38]
Chr16:29673954..30197341 [GRCh37]
Chr16:29581455..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3 copy number gain See cases [RCV000140341] Chr16:27311746..31193406 [GRCh38]
Chr16:27323067..31204727 [GRCh37]
Chr16:27230568..31112228 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3 copy number gain See cases [RCV000140510] Chr16:29581462..30185969 [GRCh38]
Chr16:29592783..30197290 [GRCh37]
Chr16:29500284..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1 copy number loss See cases [RCV000141749] Chr16:29568699..30166678 [GRCh38]
Chr16:29580020..30177999 [GRCh37]
Chr16:29487521..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3 copy number gain See cases [RCV000142335] Chr16:29555975..30180527 [GRCh38]
Chr16:29567296..30191848 [GRCh37]
Chr16:29474797..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3 copy number gain See cases [RCV000143305] Chr16:29598613..30165919 [GRCh38]
Chr16:29609934..30177240 [GRCh37]
Chr16:29517435..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3 copy number gain See cases [RCV000143364] Chr16:29579757..30228906 [GRCh38]
Chr16:29591078..30240227 [GRCh37]
Chr16:29498579..30147728 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000148096] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
NC_000016.10:g.(?_29506378)_(30180574_?)del deletion Autism spectrum disorder [RCV000208742] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754184] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Autism [RCV000754189] Chr16:29640511..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30162533)x1 copy number loss See cases [RCV000054264] Chr16:29581462..30162533 [GRCh38]
Chr16:29592783..30173854 [GRCh37]
Chr16:29500284..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3 copy number gain See cases [RCV000054299] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3 copy number gain See cases [RCV000054302] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3 copy number gain See cases [RCV000054367] Chr16:29441012..30323310 [GRCh38]
Chr16:29452333..30334631 [GRCh37]
Chr16:29359834..30242132 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1 copy number loss See cases [RCV000133991] Chr16:29466738..30179247 [GRCh38]
Chr16:29478059..30190568 [GRCh37]
Chr16:29385560..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3 copy number gain See cases [RCV000050432] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000050652] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1 copy number loss See cases [RCV000052520] Chr16:28456967..30295107 [GRCh38]
Chr16:28468288..30306428 [GRCh37]
Chr16:28375789..30213929 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3 copy number gain See cases [RCV000137446] Chr16:29645363..30321270 [GRCh38]
Chr16:29656684..30332591 [GRCh37]
Chr16:29564185..30240092 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3 copy number gain See cases [RCV000138342] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1 copy number loss See cases [RCV000142087] Chr16:29513831..30206791 [GRCh38]
Chr16:29525152..30218112 [GRCh37]
Chr16:29432653..30125613 [NCBI36]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29662646-30179272)x1 copy number loss See cases [RCV000142500] Chr16:29662646..30179272 [GRCh38]
Chr16:29673967..30190593 [GRCh37]
Chr16:29581468..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1 copy number loss See cases [RCV000143457] Chr16:29555974..30167085 [GRCh38]
Chr16:29567295..30178406 [GRCh37]
Chr16:29474796..30085907 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3 copy number gain See cases [RCV000148125] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del deletion See cases [RCV002227010] Chr16:29595531..30188533 [GRCh38]
Chr16:16p11.2		 likely pathogenic|low penetrance
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000050433] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3 copy number gain See cases [RCV000051168] Chr16:29227272..30321260 [GRCh38]
Chr16:29238593..30332581 [GRCh37]
Chr16:29146094..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
NC_000016.10:g.29640592_30187862del deletion Proximal 16p11.2 microdeletion syndrome [RCV003313807] Chr16:29640592..30187862 [GRCh38]
Chr16:16p11.2		 pathogenic|likely pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3 copy number gain See cases [RCV000135284] Chr16:29609368..30179188 [GRCh38]
Chr16:29620689..30190509 [GRCh37]
Chr16:29528190..30098010 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3 copy number gain See cases [RCV000135765] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3 copy number gain See cases [RCV000137516] Chr16:29466738..30320693 [GRCh38]
Chr16:29478059..30332014 [GRCh37]
Chr16:29385560..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1 copy number loss See cases [RCV000137580] Chr16:28392832..30186020 [GRCh38]
Chr16:28404153..30197341 [GRCh37]
Chr16:28311654..30104842 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3 copy number gain See cases [RCV000138440] Chr16:29466738..30186020 [GRCh38]
Chr16:29478059..30197341 [GRCh37]
Chr16:29385560..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000050431] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000050653] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 copy number gain See cases [RCV000052401] Chr16:23047969..30632245 [GRCh38]
Chr16:23059290..30643566 [GRCh37]
Chr16:22966791..30551067 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3 copy number gain See cases [RCV000139248] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1 copy number loss See cases [RCV000140452] Chr16:29555974..30308986 [GRCh38]
Chr16:29567295..30320307 [GRCh37]
Chr16:29474796..30227808 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3 copy number gain See cases [RCV000141141] Chr16:23752047..31943755 [GRCh38]
Chr16:23763368..31955076 [GRCh37]
Chr16:23670869..31862577 [NCBI36]
Chr16:16p12.2-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1 copy number loss See cases [RCV000143363] Chr16:29555974..30166595 [GRCh38]
Chr16:29567295..30177916 [GRCh37]
Chr16:29474796..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1 copy number loss See cases [RCV000143478] Chr16:29555974..30166678 [GRCh38]
Chr16:29567295..30177999 [GRCh37]
Chr16:29474796..30085500 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1 copy number loss See cases [RCV000054256] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1 copy number loss See cases [RCV000054258] Chr16:29566441..30187279 [GRCh38]
Chr16:29577762..30198600 [GRCh37]
Chr16:29485263..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x3 copy number gain See cases [RCV000054266] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29645363-30183432)x1 copy number loss See cases [RCV000054267] Chr16:29645363..30183432 [GRCh38]
Chr16:29656684..30194753 [GRCh37]
Chr16:29564185..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x1 copy number loss See cases [RCV000054290] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29663527-30183432)x1 copy number loss See cases [RCV000054307] Chr16:29663527..30183432 [GRCh38]
Chr16:29674848..30194753 [GRCh37]
Chr16:29582349..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3 copy number gain See cases [RCV000054346] Chr16:28366111..30183432 [GRCh38]
Chr16:28377432..30194753 [GRCh37]
Chr16:28284933..30102254 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30179188)x1 copy number loss See cases [RCV000134452] Chr16:29662633..30179188 [GRCh38]
Chr16:29673954..30190509 [GRCh37]
Chr16:29581455..30098010 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1 copy number loss See cases [RCV000135768] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1 copy number loss See cases [RCV000138343] Chr16:29645363..30186020 [GRCh38]
Chr16:29656684..30197341 [GRCh37]
Chr16:29564185..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3 copy number gain See cases [RCV000138501] Chr16:29318115..30321248 [GRCh38]
Chr16:29329436..30332569 [GRCh37]
Chr16:29236937..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3 copy number gain See cases [RCV000138442] Chr16:29579233..30186020 [GRCh38]
Chr16:29590554..30197341 [GRCh37]
Chr16:29498055..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1 copy number loss See cases [RCV000141992] Chr16:29568699..30166595 [GRCh38]
Chr16:29580020..30177916 [GRCh37]
Chr16:29487521..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3 copy number gain See cases [RCV000143386] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:29474796..30228821 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1 copy number loss See cases [RCV000143670] Chr16:29555974..30166486 [GRCh38]
Chr16:29567295..30177807 [GRCh37]
Chr16:29474796..30085308 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1 copy number loss See cases [RCV000148288] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29390980)_(30215610_?)dup duplication Autism spectrum disorder [RCV000208728] Chr16:29390980..30215610 [GRCh38]
Chr16:29402301..30226931 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NC_000016.10:g.(?_29506378)_(30180574_?)dup duplication Autism spectrum disorder [RCV000208737] Chr16:29506378..30180574 [GRCh38]
Chr16:29517699..30191895 [GRCh37]
Chr16:16p11.2		 likely pathogenic
Single allele duplication Autism [RCV000754185] Chr16:29553914..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1 copy number loss See cases [RCV000054253] Chr16:28531783..30183432 [GRCh38]
Chr16:28543104..30194753 [GRCh37]
Chr16:28450605..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29653208-30162533)x3 copy number gain See cases [RCV000054288] Chr16:29653208..30162533 [GRCh38]
Chr16:29664529..30173854 [GRCh37]
Chr16:29572030..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29808232-30162533)x1 copy number loss See cases [RCV000054309] Chr16:29808232..30162533 [GRCh38]
Chr16:29819553..30173854 [GRCh37]
Chr16:29727054..30081355 [NCBI36]
Chr16:16p11.2		 pathogenic
16p11.2 recurrent region (BP4-BP5) deletion Proximal 16p11.2 microdeletion syndrome [RCV000034307] Chr16:29638676..30188531 [GRCh38]
Chr16:29649997..30199852 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3 copy number gain See cases [RCV000135445] Chr16:29581462..30321260 [GRCh38]
Chr16:29592783..30332581 [GRCh37]
Chr16:29500284..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3 copy number gain See cases [RCV000138032] Chr16:29579233..30179247 [GRCh38]
Chr16:29590554..30190568 [GRCh37]
Chr16:29498055..30098069 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3 copy number gain See cases [RCV000139032] Chr16:29609368..30320693 [GRCh38]
Chr16:29620689..30332014 [GRCh37]
Chr16:29528190..30239515 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1 copy number loss See cases [RCV000141685] Chr16:29555974..30309999 [GRCh38]
Chr16:29567295..30321320 [GRCh37]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3 copy number gain See cases [RCV000141947] Chr16:29568699..30295634 [GRCh38]
Chr16:29580020..30306955 [GRCh37]
Chr16:29487521..30214456 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3 copy number gain See cases [RCV000141993] Chr16:29506377..30180527 [GRCh38]
Chr16:29517698..30191848 [GRCh37]
Chr16:29425199..30099349 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3 copy number gain See cases [RCV000142063] Chr16:29506377..30165919 [GRCh38]
Chr16:29517698..30177240 [GRCh37]
Chr16:29425199..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000148157] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.-66+1G>A single nucleotide variant not provided [RCV000188776] Chr16:29812324 [GRCh38]
Chr16:29823645 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.10:g.(?_29602174)_(30178709_?)dup duplication Autism spectrum disorder [RCV000208719] Chr16:29602174..30178709 [GRCh38]
Chr16:29613495..30190030 [GRCh37]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29662635-30108438)x1 copy number loss See cases [RCV000054305] Chr16:29662635..30108438 [GRCh38]
Chr16:29673956..30119759 [GRCh37]
Chr16:29581457..30027260 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3 copy number gain See cases [RCV000054371] Chr16:29645363..30323310 [GRCh38]
Chr16:29656684..30334631 [GRCh37]
Chr16:29564185..30242132 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3 copy number gain See cases [RCV000054372] Chr16:29662633..30321260 [GRCh38]
Chr16:29673954..30332581 [GRCh37]
Chr16:29581455..30240082 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
NM_145239.3(PRRT2):c.970G>T (p.Gly324Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001911347] Chr16:29814423 [GRCh38]
Chr16:29825744 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1013-30C>G single nucleotide variant not provided [RCV001571371] Chr16:29814598 [GRCh38]
Chr16:29825919 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3 copy number gain See cases [RCV000050591] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3 copy number gain See cases [RCV000139095] Chr16:29466739..30321248 [GRCh38]
Chr16:29478060..30332569 [GRCh37]
Chr16:29385561..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1 copy number loss See cases [RCV000139916] Chr16:28392832..30320693 [GRCh38]
Chr16:28404153..30332014 [GRCh37]
Chr16:28311654..30239515 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1 copy number loss See cases [RCV000141120] Chr16:29609368..30185969 [GRCh38]
Chr16:29620689..30197290 [GRCh37]
Chr16:29528190..30104791 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3 copy number gain See cases [RCV000143581] Chr16:29627319..30165919 [GRCh38]
Chr16:29638640..30177240 [GRCh37]
Chr16:29546141..30084741 [NCBI36]
Chr16:16p11.2		 likely pathogenic
NC_000016.10:g.(?_29685652)_(30180586_?)dup duplication Autism spectrum disorder [RCV000208725] Chr16:29685652..30180586 [GRCh38]
Chr16:29696973..30191907 [GRCh37]
Chr16:16p11.2		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754186] Chr16:29614026..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3 copy number gain See cases [RCV000054364] Chr16:29170820..30179247 [GRCh38]
Chr16:29182141..30190568 [GRCh37]
Chr16:29089642..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3 copy number gain See cases [RCV000054370] Chr16:29600893..30187279 [GRCh38]
Chr16:29612214..30198600 [GRCh37]
Chr16:29519715..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3 copy number gain See cases [RCV000054374] Chr16:29662635..30186020 [GRCh38]
Chr16:29673956..30197341 [GRCh37]
Chr16:29581457..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3 copy number gain See cases [RCV000135976] Chr16:29662646..30321248 [GRCh38]
Chr16:29673967..30332569 [GRCh37]
Chr16:29581468..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3 copy number gain See cases [RCV000136065] Chr16:29318115..30179272 [GRCh38]
Chr16:29329436..30190593 [GRCh37]
Chr16:29236937..30098094 [NCBI36]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.-66+19G>A single nucleotide variant not provided [RCV000827337] Chr16:29812342 [GRCh38]
Chr16:29823663 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.-88_-66+6del deletion not specified [RCV000611207] Chr16:29812299..29812327 [GRCh38]
Chr16:29823620..29823648 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1 copy number loss See cases [RCV000140887] Chr16:29555974..30215609 [GRCh38]
Chr16:29567295..30226930 [GRCh37]
Chr16:29474796..30134431 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1 copy number loss See cases [RCV000141285] Chr16:29427948..30186020 [GRCh38]
Chr16:29439269..30197341 [GRCh37]
Chr16:29346770..30104842 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3 copy number gain See cases [RCV000141682] Chr16:29569779..30228906 [GRCh38]
Chr16:29581100..30240227 [GRCh37]
Chr16:29488601..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1 copy number loss See cases [RCV000142045] Chr16:29555974..30178708 [GRCh38]
Chr16:29567295..30190029 [GRCh37]
Chr16:29474796..30097530 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3 copy number gain See cases [RCV000142875] Chr16:29682770..30186020 [GRCh38]
Chr16:29694091..30197341 [GRCh37]
Chr16:29601592..30104842 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3 copy number gain See cases [RCV000142929] Chr16:29581470..30321248 [GRCh38]
Chr16:29592791..30332569 [GRCh37]
Chr16:29500292..30240070 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1 copy number loss See cases [RCV000143228] Chr16:29420891..30166595 [GRCh38]
Chr16:29432212..30177916 [GRCh37]
Chr16:29339713..30085417 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3 copy number gain See cases [RCV000143431] Chr16:29568699..30228906 [GRCh38]
Chr16:29580020..30240227 [GRCh37]
Chr16:29487521..30147728 [NCBI36]
Chr16:16p11.2		 likely pathogenic
GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1 copy number loss See cases [RCV000148095] Chr16:29227272..30179247 [GRCh38]
Chr16:29238593..30190568 [GRCh37]
Chr16:29146094..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000148097] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x1 copy number loss See cases [RCV000148134] Chr16:29662633..30179247 [GRCh38]
Chr16:29673954..30190568 [GRCh37]
Chr16:29581455..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1 copy number loss See cases [RCV000054252] Chr16:28492482..30179247 [GRCh38]
Chr16:28503803..30190568 [GRCh37]
Chr16:28411304..30098069 [NCBI36]
Chr16:16p12.1-11.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3 copy number gain See cases [RCV000054255] Chr16:29441012..30183432 [GRCh38]
Chr16:29452333..30194753 [GRCh37]
Chr16:29359834..30102254 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3 copy number gain See cases [RCV000054347] Chr16:29086504..30333716 [GRCh38]
Chr16:29097825..30345037 [GRCh37]
Chr16:29005326..30252538 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29566440-30187279)x3 copy number gain See cases [RCV000054369] Chr16:29566440..30187279 [GRCh38]
Chr16:29577761..30198600 [GRCh37]
Chr16:29485262..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|uncertain significance
GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1 copy number loss See cases [RCV000139249] Chr16:29579233..30320693 [GRCh38]
Chr16:29590554..30332014 [GRCh37]
Chr16:29498055..30239515 [NCBI36]
Chr16:16p11.2		 pathogenic|likely pathogenic
Single allele duplication Autism [RCV000754182] Chr16:29401125..30312960 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29480853)_(30254620_?)del deletion Autism [RCV000754183] Chr16:29480853..30254620 [GRCh38]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29627836)_(30184960_?)del deletion Schizophrenia [RCV000754187] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754188] Chr16:29627836..30184960 [GRCh38]
Chr16:16p11.2		 pathogenic
GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1 copy number loss See cases [RCV000054300] Chr16:29662633..30187279 [GRCh38]
Chr16:29673954..30198600 [GRCh37]
Chr16:29581455..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1 copy number loss See cases [RCV000054303] Chr16:29662635..30187279 [GRCh38]
Chr16:29673956..30198600 [GRCh37]
Chr16:29581457..30106101 [NCBI36]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.29812021T>C single nucleotide variant not provided [RCV001678291] Chr16:29812021 [GRCh38]
Chr16:29823342 [GRCh37]
Chr16:16p11.2		 benign
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1 copy number loss See cases [RCV000050595] Chr16:29581462..30179247 [GRCh38]
Chr16:29592783..30190568 [GRCh37]
Chr16:29500284..30098069 [NCBI36]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_145239.3(PRRT2):c.602A>C (p.His201Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003852789] Chr16:29813656 [GRCh38]
Chr16:29824977 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_002383.4(MAZ):c.1280-426C>T single nucleotide variant Inborn genetic diseases [RCV002778776] Chr16:29809651 [GRCh38]
Chr16:29820972 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_002383.4(MAZ):c.1280-347G>C single nucleotide variant Inborn genetic diseases [RCV002759233] Chr16:29809730 [GRCh38]
Chr16:29821051 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_002383.4(MAZ):c.1280-353G>C single nucleotide variant Inborn genetic diseases [RCV002769297] Chr16:29809724 [GRCh38]
Chr16:29821045 [GRCh37]
Chr16:16p11.2		 uncertain significance
GRCh38/hg38 16p11.2(chr16:29653297-30181026) copy number loss See cases [RCV003223561] Chr16:29653297..30181026 [GRCh38]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.751= (p.Leu251=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001082307]|not provided [RCV000468034]|not specified [RCV000127623] Chr16:29813805 [GRCh38]
Chr16:29825126 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.*55C>A single nucleotide variant not provided [RCV001564960]|not specified [RCV001699816] Chr16:29814693 [GRCh38]
Chr16:29826014 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.*13C>T single nucleotide variant not provided [RCV001584664] Chr16:29814651 [GRCh38]
Chr16:29825972 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.304G>A (p.Glu102Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001930202]|not specified [RCV003479359] Chr16:29813358 [GRCh38]
Chr16:29824679 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002248752]|Episodic kinesigenic dyskinesia [RCV000644948]|not provided [RCV000519798] Chr16:29814375 [GRCh38]
Chr16:29825696 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.597G>C (p.Glu199Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001944921] Chr16:29813651 [GRCh38]
Chr16:29824972 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) duplication Episodic kinesigenic dyskinesia 1 [RCV000055991]|Episodic kinesigenic dyskinesia [RCV000791409]|Inborn genetic diseases [RCV002313738]|Infantile convulsions and choreoathetosis [RCV000153783]|Neurodevelopmental delay [RCV002273952]|PRRT2 insufficiency [RCV001264813]|PRRT2-Associated Paroxysmal Movement Disorders [RCV001563615]|PRRT2-Related Disorders [RCV003335084]|PRRT2-related condition [RCV003952479]|PRRT2-related disorder [RCV002280097]|Paroxysmal nonkinesigenic dyskinesia 1 [RCV000991298]|Seizure [RCV000193894]|Seizures, benign familial infantile, 2 [RCV000585818]|Seizures, benign familial infantile, 2 [RCV000768059]|Self-limited familial infantile epilepsy [RCV002470742]|not provided [RCV000188779] Chr16:29813694..29813695 [GRCh38]
Chr16:29825015..29825016 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.498C>T (p.Pro166=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001958660] Chr16:29813552 [GRCh38]
Chr16:29824873 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.731G>A (p.Ser244Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001961669] Chr16:29813785 [GRCh38]
Chr16:29825106 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.896A>C (p.Gln299Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001961929] Chr16:29814349 [GRCh38]
Chr16:29825670 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.982A>G (p.Ile328Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001969702] Chr16:29814435 [GRCh38]
Chr16:29825756 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001084603]|Inborn genetic diseases [RCV002381638]|PRRT2-related condition [RCV003955126]|not provided [RCV000514138]|not specified [RCV000188757] Chr16:29813187 [GRCh38]
Chr16:29824508 [GRCh37]
Chr16:16p11.2		 benign|likely benign|uncertain significance
NM_145239.3(PRRT2):c.528G>A (p.Gly176=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000866603]|Inborn genetic diseases [RCV002345972] Chr16:29813582 [GRCh38]
Chr16:29824903 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002008593]|Seizures, benign familial infantile, 2 [RCV002471210]|not provided [RCV002466730] Chr16:29814408 [GRCh38]
Chr16:29825729 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.957G>A (p.Val319=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002082730] Chr16:29814410 [GRCh38]
Chr16:29825731 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.751T>C (p.Leu251=) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV001789222]|Episodic kinesigenic dyskinesia [RCV001510040]|Infantile convulsions and choreoathetosis [RCV001789223]|Seizures, benign familial infantile, 2 [RCV001789224]|not specified [RCV000153784] Chr16:29813805 [GRCh38]
Chr16:29825126 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.1010G>A (p.Gly337Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001211176] Chr16:29814463 [GRCh38]
Chr16:29825784 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) microsatellite Episodic kinesigenic dyskinesia [RCV000802861]|Inborn genetic diseases [RCV002356774]|not provided [RCV000485009] Chr16:29813653..29813656 [GRCh38]
Chr16:29824974..29824977 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.319G>A (p.Glu107Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002296581] Chr16:29813373 [GRCh38]
Chr16:29824694 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.432C>T (p.Pro144=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000644959]|Inborn genetic diseases [RCV002331198]|PRRT2-related condition [RCV003965367] Chr16:29813486 [GRCh38]
Chr16:29824807 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.651A>G (p.Arg217=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001403398]|Inborn genetic diseases [RCV002368265] Chr16:29813705 [GRCh38]
Chr16:29825026 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.64G>A (p.Gly22Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002040621]|not specified [RCV003987956] Chr16:29813118 [GRCh38]
Chr16:29824439 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.710del (p.Gly237fs) deletion Inborn genetic diseases [RCV002367398] Chr16:29813763 [GRCh38]
Chr16:29825084 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.598C>T (p.Pro200Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001917235] Chr16:29813652 [GRCh38]
Chr16:29824973 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000477236]|Inborn genetic diseases [RCV002314749]|PRRT2-related condition [RCV003955127]|Seizures, benign familial infantile, 2 [RCV002492868]|not provided [RCV001711483] Chr16:29813698 [GRCh38]
Chr16:29825019 [GRCh37]
Chr16:16p11.2		 benign|likely benign|uncertain significance
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu) single nucleotide variant Seizures, benign familial infantile, 2 [RCV002286491] Chr16:29814367 [GRCh38]
Chr16:29825688 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.-65-1G>A single nucleotide variant Seizures, benign familial infantile, 2 [RCV001808942] Chr16:29812989 [GRCh38]
Chr16:29824310 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.629del (p.Pro210fs) deletion Episodic kinesigenic dyskinesia 1 [RCV002247412]|Seizures, benign familial infantile, 2 [RCV000032972] Chr16:29813677 [GRCh38]
Chr16:29824998 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly) single nucleotide variant Global developmental delay [RCV000415382]|Infantile convulsions and choreoathetosis [RCV001197506] Chr16:29813728 [GRCh38]
Chr16:29825049 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.653_660dup (p.Gln221fs) duplication Episodic kinesigenic dyskinesia [RCV001215342] Chr16:29813704..29813705 [GRCh38]
Chr16:29825025..29825026 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.112C>A (p.Leu38Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001987912] Chr16:29813166 [GRCh38]
Chr16:29824487 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala) single nucleotide variant Infantile convulsions and choreoathetosis [RCV001198439] Chr16:29813578 [GRCh38]
Chr16:29824899 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.52C>A (p.Pro18Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003096687]|Inborn genetic diseases [RCV002344578] Chr16:29813106 [GRCh38]
Chr16:29824427 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1012+5G>A single nucleotide variant not provided [RCV002267281] Chr16:29814470 [GRCh38]
Chr16:29825791 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn) single nucleotide variant Infantile convulsions and choreoathetosis [RCV001199300] Chr16:29814363 [GRCh38]
Chr16:29825684 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.272C>T (p.Pro91Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001209353]|Inborn genetic diseases [RCV002561708] Chr16:29813326 [GRCh38]
Chr16:29824647 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.834C>T (p.Cys278=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002064064]|not specified [RCV000600351] Chr16:29813888 [GRCh38]
Chr16:29825209 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001067788]|Infantile convulsions and choreoathetosis [RCV000024170] Chr16:29814403 [GRCh38]
Chr16:29825724 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.879+5G>A single nucleotide variant Seizures, benign familial infantile, 2 [RCV000024171] Chr16:29813938 [GRCh38]
Chr16:29825259 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) duplication Episodic kinesigenic dyskinesia [RCV001386018]|Infantile convulsions and choreoathetosis [RCV000024173] Chr16:29813569..29813570 [GRCh38]
Chr16:29824890..29824891 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.47A>G (p.Glu16Gly) single nucleotide variant not provided [RCV001566617] Chr16:29813101 [GRCh38]
Chr16:29824422 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.976C>A (p.Leu326Ile) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002225140]|not provided [RCV001770803] Chr16:29814429 [GRCh38]
Chr16:29825750 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.171C>T (p.Ala57=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000895364]|not provided [RCV001704303] Chr16:29813225 [GRCh38]
Chr16:29824546 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1013T>A (p.Val338Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002539912]|not provided [RCV001751866] Chr16:29814628 [GRCh38]
Chr16:29825949 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.884_885delinsCT (p.Arg295Pro) indel not provided [RCV001772483] Chr16:29814337..29814338 [GRCh38]
Chr16:29825658..29825659 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.880-1G>C single nucleotide variant Episodic kinesigenic dyskinesia [RCV001931737] Chr16:29814332 [GRCh38]
Chr16:29825653 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001081520]|Inborn genetic diseases [RCV002312241]|PRRT2-related condition [RCV003905126]|Seizures, benign familial infantile, 2 [RCV003224153]|not provided [RCV000118066] Chr16:29813121 [GRCh38]
Chr16:29824442 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) deletion Episodic kinesigenic dyskinesia 1 [RCV002248505]|Episodic kinesigenic dyskinesia [RCV001045357]|not provided [RCV000378110] Chr16:29813378..29813379 [GRCh38]
Chr16:29824699..29824700 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001086994]|Inborn genetic diseases [RCV002526586]|not provided [RCV000478458] Chr16:29813634 [GRCh38]
Chr16:29824955 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV000471449]|Episodic kinesigenic dyskinesia [RCV001080628]|Inborn genetic diseases [RCV002312240]|not provided [RCV000426092]|not specified [RCV000118065] Chr16:29813466 [GRCh38]
Chr16:29824787 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_145239.3(PRRT2):c.446A>C (p.Gln149Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001929295] Chr16:29813500 [GRCh38]
Chr16:29824821 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.880-14C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV002055760]|not specified [RCV000127624] Chr16:29814319 [GRCh38]
Chr16:29825640 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.733C>T (p.Arg245Cys) single nucleotide variant See cases [RCV002252938] Chr16:29813787 [GRCh38]
Chr16:29825108 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.971del (p.Gly324fs) deletion Episodic kinesigenic dyskinesia 1 [RCV002247606]|Episodic kinesigenic dyskinesia [RCV000544016]|Seizures, benign familial infantile, 2 [RCV002510567]|not provided [RCV000188780] Chr16:29814419 [GRCh38]
Chr16:29825740 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.923G>A (p.Arg308His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000476052]|Inborn genetic diseases [RCV002374744]|not provided [RCV001591063] Chr16:29814376 [GRCh38]
Chr16:29825697 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002248643]|Episodic kinesigenic dyskinesia [RCV000807992]|not specified [RCV000413489] Chr16:29814464 [GRCh38]
Chr16:29825785 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002248745]|Episodic kinesigenic dyskinesia [RCV001857289]|Seizures, benign familial infantile, 2 [RCV000515468] Chr16:29814412 [GRCh38]
Chr16:29825733 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002273272] Chr16:29813823 [GRCh38]
Chr16:29825144 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.870T>G (p.Tyr290Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001939356] Chr16:29813924 [GRCh38]
Chr16:29825245 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002234539]|not provided [RCV003313122] Chr16:29814369 [GRCh38]
Chr16:29825690 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_145239.3(PRRT2):c.161C>G (p.Thr54Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002302927] Chr16:29813215 [GRCh38]
Chr16:29824536 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.221C>T (p.Thr74Ile) single nucleotide variant not provided [RCV001760926] Chr16:29813275 [GRCh38]
Chr16:29824596 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.76G>T (p.Gly26Cys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001955685] Chr16:29813130 [GRCh38]
Chr16:29824451 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.971G>T (p.Gly324Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001959350]|Infantile convulsions and choreoathetosis [RCV003152784] Chr16:29814424 [GRCh38]
Chr16:29825745 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.459G>A (p.Lys153=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002103029]|Inborn genetic diseases [RCV002337265] Chr16:29813513 [GRCh38]
Chr16:29824834 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1012+6T>C single nucleotide variant Episodic kinesigenic dyskinesia [RCV002003605] Chr16:29814471 [GRCh38]
Chr16:29825792 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.650G>A (p.Arg217Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002003664] Chr16:29813704 [GRCh38]
Chr16:29825025 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.425C>T (p.Pro142Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002299418] Chr16:29813479 [GRCh38]
Chr16:29824800 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.167C>T (p.Ala56Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001235545]|not provided [RCV001664772] Chr16:29813221 [GRCh38]
Chr16:29824542 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000463630]|Inborn genetic diseases [RCV002401988]|Seizures, benign familial infantile, 2 [RCV001249313]|not provided [RCV001711857]|not specified [RCV000368601] Chr16:29813827 [GRCh38]
Chr16:29825148 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_145239.3(PRRT2):c.215C>T (p.Thr72Ile) single nucleotide variant not provided [RCV001754645] Chr16:29813269 [GRCh38]
Chr16:29824590 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.880-13G>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV002064008]|not provided [RCV001712641] Chr16:29814320 [GRCh38]
Chr16:29825641 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.430C>T (p.Pro144Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001979639] Chr16:29813484 [GRCh38]
Chr16:29824805 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) single nucleotide variant Infantile convulsions and choreoathetosis [RCV000032971] Chr16:29813616 [GRCh38]
Chr16:29824937 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.802_804del (p.Tyr268del) deletion Episodic kinesigenic dyskinesia [RCV002534978]|Inborn genetic diseases [RCV002318176] Chr16:29813854..29813856 [GRCh38]
Chr16:29825175..29825177 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.303C>T (p.Pro101=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000644957]|not provided [RCV001683623] Chr16:29813357 [GRCh38]
Chr16:29824678 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000471881]|Inborn genetic diseases [RCV002316400]|not specified [RCV000127621] Chr16:29813666 [GRCh38]
Chr16:29824987 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_145239.3(PRRT2):c.879+57G>A single nucleotide variant not provided [RCV001680656] Chr16:29813990 [GRCh38]
Chr16:29825311 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.653T>G (p.Val218Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001999392] Chr16:29813707 [GRCh38]
Chr16:29825028 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.932G>C (p.Arg311Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000458954]|not provided [RCV001764369] Chr16:29814385 [GRCh38]
Chr16:29825706 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.535C>T (p.Gln179Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002039934] Chr16:29813589 [GRCh38]
Chr16:29824910 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002034711]|Seizures, benign familial infantile, 2 [RCV001839305] Chr16:29813490 [GRCh38]
Chr16:29824811 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001088021]|Inborn genetic diseases [RCV002365477]|not provided [RCV000712864]|not specified [RCV000440798] Chr16:29813699 [GRCh38]
Chr16:29825020 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV000055990]|Episodic kinesigenic dyskinesia [RCV000791448]|Inborn genetic diseases [RCV002354247]|Infantile convulsions and choreoathetosis [RCV001332952]|not provided [RCV001719806] Chr16:29813701 [GRCh38]
Chr16:29825022 [GRCh37]
Chr16:16p11.2		 pathogenic|likely benign|uncertain significance
NM_145239.3(PRRT2):c.460C>T (p.Pro154Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002054223]|not provided [RCV000188763] Chr16:29813514 [GRCh38]
Chr16:29824835 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.973G>A (p.Val325Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001958157] Chr16:29814426 [GRCh38]
Chr16:29825747 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001371068]|Infantile convulsions and choreoathetosis [RCV001197119] Chr16:29814441 [GRCh38]
Chr16:29825762 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.764G>A (p.Gly255Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001207813] Chr16:29813818 [GRCh38]
Chr16:29825139 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV000024174]|Infantile convulsions and choreoathetosis [RCV000024175] Chr16:29813541 [GRCh38]
Chr16:29824862 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV000989591]|Episodic kinesigenic dyskinesia [RCV000456838]|Inborn genetic diseases [RCV002326837]|Seizures, benign familial infantile, 2 [RCV002505095]|not provided [RCV001704051]|not specified [RCV000175976] Chr16:29813493 [GRCh38]
Chr16:29824814 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.503C>T (p.Pro168Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001213401] Chr16:29813557 [GRCh38]
Chr16:29824878 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000229187]|Inborn genetic diseases [RCV002362987]|PRRT2-related condition [RCV003937667]|Seizures, benign familial infantile, 2 [RCV002492869]|not provided [RCV001535419]|not specified [RCV000188770] Chr16:29813701 [GRCh38]
Chr16:29825022 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000528840]|Inborn genetic diseases [RCV002372095]|not provided [RCV000724051]|not specified [RCV000188783] Chr16:29814628 [GRCh38]
Chr16:29825949 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.974T>C (p.Val325Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001203292] Chr16:29814427 [GRCh38]
Chr16:29825748 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001206176]|Seizures, benign familial infantile, 2 [RCV001262975]|not provided [RCV000597212] Chr16:29814366 [GRCh38]
Chr16:29825687 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter) single nucleotide variant Infantile convulsions and choreoathetosis [RCV002086748] Chr16:29813418 [GRCh38]
Chr16:29824739 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.880-11C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV002061478]|not specified [RCV000434266] Chr16:29814322 [GRCh38]
Chr16:29825643 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.375G>C (p.Arg125Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001214044] Chr16:29813429 [GRCh38]
Chr16:29824750 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.369G>T (p.Gly123=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002064975]|not specified [RCV000423885] Chr16:29813423 [GRCh38]
Chr16:29824744 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.429C>G (p.Asp143Glu) single nucleotide variant not provided [RCV001755143] Chr16:29813483 [GRCh38]
Chr16:29824804 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.621dup (p.Ser208fs) duplication not provided [RCV001784883] Chr16:29813668..29813669 [GRCh38]
Chr16:29824989..29824990 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.270C>A (p.Ser90Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001210009] Chr16:29813324 [GRCh38]
Chr16:29824645 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.603C>T (p.His201=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002088142] Chr16:29813657 [GRCh38]
Chr16:29824978 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1013-16C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV002062950]|not specified [RCV000604305] Chr16:29814612 [GRCh38]
Chr16:29825933 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.916G>T (p.Ala306Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001209198]|not provided [RCV000520264] Chr16:29814369 [GRCh38]
Chr16:29825690 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000554439]|Infantile convulsions and choreoathetosis [RCV001332953]|Seizures, benign familial infantile, 2 [RCV002289762]|not provided [RCV001545693] Chr16:29813703 [GRCh38]
Chr16:29825024 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.907G>A (p.Val303Met) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001040644]|Inborn genetic diseases [RCV002372770] Chr16:29814360 [GRCh38]
Chr16:29825681 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.639_640insC (p.Ala214fs) insertion Episodic kinesigenic dyskinesia [RCV001912605] Chr16:29813693..29813694 [GRCh38]
Chr16:29825014..29825015 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.493G>A (p.Asp165Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000698680]|Inborn genetic diseases [RCV002343504] Chr16:29813547 [GRCh38]
Chr16:29824868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.268A>G (p.Ser90Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001211067] Chr16:29813322 [GRCh38]
Chr16:29824643 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.404_427del (p.Ala135_Pro142del) deletion Episodic kinesigenic dyskinesia [RCV001041514]|Inborn genetic diseases [RCV002320251] Chr16:29813452..29813475 [GRCh38]
Chr16:29824773..29824796 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000811192]|Inborn genetic diseases [RCV002336500]|not provided [RCV000725684] Chr16:29813406 [GRCh38]
Chr16:29824727 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.742del (p.Ser248fs) deletion Episodic kinesigenic dyskinesia [RCV002007216] Chr16:29813796 [GRCh38]
Chr16:29825117 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000690827]|not provided [RCV001756178] Chr16:29814337 [GRCh38]
Chr16:29825658 [GRCh37]
Chr16:16p11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV000024176]|Episodic kinesigenic dyskinesia [RCV003593864]|not specified [RCV002281719] Chr16:29813850 [GRCh38]
Chr16:29825171 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002250268] Chr16:29814636 [GRCh38]
Chr16:29825957 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.641C>A (p.Ala214Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002042695] Chr16:29813695 [GRCh38]
Chr16:29825016 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.859G>C (p.Ala287Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001218488]|not provided [RCV001570824] Chr16:29813913 [GRCh38]
Chr16:29825234 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000873099]|not provided [RCV002225757] Chr16:29813677 [GRCh38]
Chr16:29824998 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity
NM_145239.3(PRRT2):c.224dup (p.Ala76fs) duplication Episodic kinesigenic dyskinesia [RCV001917425] Chr16:29813274..29813275 [GRCh38]
Chr16:29824595..29824596 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.599C>G (p.Pro200Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001917490] Chr16:29813653 [GRCh38]
Chr16:29824974 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.370T>A (p.Ser124Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002001944] Chr16:29813424 [GRCh38]
Chr16:29824745 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001080802]|Inborn genetic diseases [RCV002317150]|PRRT2-related condition [RCV003927747]|not provided [RCV000725346]|not specified [RCV000188768] Chr16:29813694 [GRCh38]
Chr16:29825015 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.291del (p.Asn98fs) deletion Seizures, benign familial infantile, 2 [RCV000032973] Chr16:29813344 [GRCh38]
Chr16:29824665 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002247392]|Episodic kinesigenic dyskinesia [RCV000817890]|Infantile convulsions and choreoathetosis [RCV000024172]|Seizures, benign familial infantile, 2 [RCV002288519]|not provided [RCV000431690] Chr16:29813772 [GRCh38]
Chr16:29825093 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001082873]|Inborn genetic diseases [RCV002311740]|Seizure [RCV002274919]|Seizures, benign familial infantile, 2 [RCV002505010]|not provided [RCV000224146]|not specified [RCV000082646] Chr16:29813701 [GRCh38]
Chr16:29825022 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_145239.3(PRRT2):c.955G>A (p.Val319Met) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594173]|not provided [RCV002254978] Chr16:29814408 [GRCh38]
Chr16:29825729 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.183A>G (p.Ser61=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000644954]|not provided [RCV001613421] Chr16:29813237 [GRCh38]
Chr16:29824558 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.506A>G (p.Glu169Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002004712]|not provided [RCV003418245] Chr16:29813560 [GRCh38]
Chr16:29824881 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.519G>A (p.Glu173=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001394420]|Inborn genetic diseases [RCV002339030]|not specified [RCV000442657] Chr16:29813573 [GRCh38]
Chr16:29824894 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.997G>T (p.Val333Phe) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001945922] Chr16:29814450 [GRCh38]
Chr16:29825771 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.921G>C (p.Gln307His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001946042] Chr16:29814374 [GRCh38]
Chr16:29825695 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.808A>G (p.Ile270Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002009609]|not provided [RCV002281208] Chr16:29813862 [GRCh38]
Chr16:29825183 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.12C>A (p.Ser4Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001897266] Chr16:29813066 [GRCh38]
Chr16:29824387 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.37G>A (p.Gly13Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001395746] Chr16:29813091 [GRCh38]
Chr16:29824412 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.273A>G (p.Pro91=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002801231] Chr16:29813327 [GRCh38]
Chr16:29824648 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.268dup (p.Ser90fs) duplication Episodic kinesigenic dyskinesia [RCV001884038] Chr16:29813320..29813321 [GRCh38]
Chr16:29824641..29824642 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000824577]|Inborn genetic diseases [RCV002363177]|PRRT2-related condition [RCV003413661]|not provided [RCV001556843] Chr16:29813697 [GRCh38]
Chr16:29825018 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.1012+5G>T single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV002052094] Chr16:29814470 [GRCh38]
Chr16:29825791 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) microsatellite Episodic kinesigenic dyskinesia 1 [RCV000024167]|Episodic kinesigenic dyskinesia [RCV002513223] Chr16:29813564..29813567 [GRCh38]
Chr16:29824885..29824888 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.972del (p.Val325fs) deletion Episodic kinesigenic dyskinesia 1 [RCV000024168] Chr16:29814425 [GRCh38]
Chr16:29825746 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.172C>T (p.Pro58Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001992586] Chr16:29813226 [GRCh38]
Chr16:29824547 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.325G>A (p.Val109Met) single nucleotide variant not provided [RCV002284829] Chr16:29813379 [GRCh38]
Chr16:29824700 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.985A>G (p.Ile329Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002032556]|not provided [RCV001545931] Chr16:29814438 [GRCh38]
Chr16:29825759 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-5C>G single nucleotide variant Episodic kinesigenic dyskinesia [RCV002048674] Chr16:29814623 [GRCh38]
Chr16:29825944 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.823T>C (p.Ser275Pro) single nucleotide variant not provided [RCV000482740] Chr16:29813877 [GRCh38]
Chr16:29825198 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic|not provided
NM_145239.3(PRRT2):c.879+6C>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV000531387]|not provided [RCV000727356] Chr16:29813939 [GRCh38]
Chr16:29825260 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV000032974]|Seizures, benign familial infantile, 2 [RCV000032975] Chr16:29813802 [GRCh38]
Chr16:29825123 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.189del (p.Lys64fs) deletion Episodic kinesigenic dyskinesia [RCV001218046] Chr16:29813241 [GRCh38]
Chr16:29824562 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.30G>A (p.Glu10=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002081720] Chr16:29813084 [GRCh38]
Chr16:29824405 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.772G>C (p.Gly258Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001242647]|Inborn genetic diseases [RCV002318094] Chr16:29813826 [GRCh38]
Chr16:29825147 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.521_530del (p.Ser174fs) deletion Episodic kinesigenic dyskinesia 1 [RCV002289507] Chr16:29813573..29813582 [GRCh38]
Chr16:29824894..29824903 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer) deletion Seizures, benign familial infantile, 2 [RCV002290208] Chr16:29813568..29813569 [GRCh38]
Chr16:29824889..29824890 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_024516.4(PAGR1):c.206G>C (p.Gly69Ala) single nucleotide variant Inborn genetic diseases [RCV002696521] Chr16:29816731 [GRCh38]
Chr16:29828052 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002231213]|not provided [RCV000523548] Chr16:29813485 [GRCh38]
Chr16:29824806 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.-20_18del (p.Met1fs) deletion Episodic kinesigenic dyskinesia [RCV002843452] Chr16:29813030..29813067 [GRCh38]
Chr16:29824351..29824388 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.834C>A (p.Cys278Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001887057] Chr16:29813888 [GRCh38]
Chr16:29825209 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_024516.4(PAGR1):c.154G>A (p.Gly52Arg) single nucleotide variant Inborn genetic diseases [RCV002680168] Chr16:29816679 [GRCh38]
Chr16:29828000 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.933G>C (p.Arg311=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002820364] Chr16:29814386 [GRCh38]
Chr16:29825707 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.435G>A (p.Arg145=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002766065] Chr16:29813489 [GRCh38]
Chr16:29824810 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.465C>T (p.Ala155=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002196396] Chr16:29813519 [GRCh38]
Chr16:29824840 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.860C>T (p.Ala287Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002838409] Chr16:29813914 [GRCh38]
Chr16:29825235 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.121del (p.Val41fs) deletion Episodic kinesigenic dyskinesia [RCV002856979] Chr16:29813172 [GRCh38]
Chr16:29824493 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1017T>C (p.Tyr339=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002731336] Chr16:29814632 [GRCh38]
Chr16:29825953 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.179A>C (p.Asp60Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001887862] Chr16:29813233 [GRCh38]
Chr16:29824554 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr) single nucleotide variant Seizures, benign familial infantile, 2 [RCV001225308] Chr16:29813893 [GRCh38]
Chr16:29825214 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) single nucleotide variant Complex febrile seizure [RCV000678832]|Episodic kinesigenic dyskinesia [RCV002232812] Chr16:29813227 [GRCh38]
Chr16:29824548 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024516.4(PAGR1):c.32C>T (p.Ala11Val) single nucleotide variant Inborn genetic diseases [RCV002764720] Chr16:29816557 [GRCh38]
Chr16:29827878 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.966G>T (p.Val322=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002184196] Chr16:29814419 [GRCh38]
Chr16:29825740 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002233522] Chr16:29813734 [GRCh38]
Chr16:29825055 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.729G>C (p.Leu243=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002216098] Chr16:29813783 [GRCh38]
Chr16:29825104 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.547G>T (p.Ala183Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001894572] Chr16:29813601 [GRCh38]
Chr16:29824922 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024516.4(PAGR1):c.238G>C (p.Ala80Pro) single nucleotide variant Inborn genetic diseases [RCV002821258] Chr16:29816763 [GRCh38]
Chr16:29828084 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002234540] Chr16:29814420 [GRCh38]
Chr16:29825741 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.483T>C (p.Pro161=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002234541] Chr16:29813537 [GRCh38]
Chr16:29824858 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.990C>T (p.Ala330=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002234542] Chr16:29814443 [GRCh38]
Chr16:29825764 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.98G>A (p.Gly33Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001878465] Chr16:29813152 [GRCh38]
Chr16:29824473 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.880-34G>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV001309110]|Infantile convulsions and choreoathetosis [RCV002051919]|Seizures, benign familial infantile, 2 [RCV003333135]|not provided [RCV001200407] Chr16:29814299 [GRCh38]
Chr16:29825620 [GRCh37]
Chr16:16p11.2		 pathogenic|uncertain significance
NM_145239.3(PRRT2):c.77G>C (p.Gly26Ala) single nucleotide variant not provided [RCV001840845] Chr16:29813131 [GRCh38]
Chr16:29824452 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.972_975del (p.Val325fs) deletion Episodic kinesigenic dyskinesia [RCV002233521] Chr16:29814425..29814428 [GRCh38]
Chr16:29825746..29825749 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.324A>T (p.Thr108=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002205987] Chr16:29813378 [GRCh38]
Chr16:29824699 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.944T>C (p.Leu315Pro) single nucleotide variant not provided [RCV003312338] Chr16:29814397 [GRCh38]
Chr16:29825718 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.789G>A (p.Gln263=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002766689] Chr16:29813843 [GRCh38]
Chr16:29825164 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.46G>C (p.Glu16Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001890232] Chr16:29813100 [GRCh38]
Chr16:29824421 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.571G>T (p.Asp191Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001892600] Chr16:29813625 [GRCh38]
Chr16:29824946 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.591C>T (p.Ala197=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002161212] Chr16:29813645 [GRCh38]
Chr16:29824966 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1013-18C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV002153611] Chr16:29814610 [GRCh38]
Chr16:29825931 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.210A>G (p.Glu70=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002216485] Chr16:29813264 [GRCh38]
Chr16:29824585 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.364C>A (p.Gln122Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002232312] Chr16:29813418 [GRCh38]
Chr16:29824739 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.381G>A (p.Glu127=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002548340] Chr16:29813435 [GRCh38]
Chr16:29824756 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.43G>A (p.Glu15Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002667500] Chr16:29813097 [GRCh38]
Chr16:29824418 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.569G>C (p.Gly190Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001221803] Chr16:29813623 [GRCh38]
Chr16:29824944 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) duplication Episodic kinesigenic dyskinesia 1 [RCV002247391]|Episodic kinesigenic dyskinesia [RCV002228054]|Infantile convulsions and choreoathetosis [RCV000024169]|not provided [RCV000188767] Chr16:29813676..29813677 [GRCh38]
Chr16:29824997..29824998 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.776dup (p.Gly259_Glu260insTer) duplication Episodic kinesigenic dyskinesia [RCV001223315] Chr16:29813824..29813825 [GRCh38]
Chr16:29825145..29825146 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.553G>C (p.Val185Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002711084] Chr16:29813607 [GRCh38]
Chr16:29824928 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.288G>A (p.Lys96=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002121030] Chr16:29813342 [GRCh38]
Chr16:29824663 [GRCh37]
Chr16:16p11.2		 likely benign
NM_024516.4(PAGR1):c.29C>T (p.Thr10Ile) single nucleotide variant Inborn genetic diseases [RCV002692843] Chr16:29816554 [GRCh38]
Chr16:29827875 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.689G>A (p.Arg230Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002700464] Chr16:29813743 [GRCh38]
Chr16:29825064 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.729G>A (p.Leu243=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002115272] Chr16:29813783 [GRCh38]
Chr16:29825104 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.987C>T (p.Ile329=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002109160] Chr16:29814440 [GRCh38]
Chr16:29825761 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.430C>G (p.Pro144Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001226874] Chr16:29813484 [GRCh38]
Chr16:29824805 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002228827]|not provided [RCV000188762] Chr16:29813469 [GRCh38]
Chr16:29824790 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.248A>C (p.Gln83Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759768]|Inborn genetic diseases [RCV002707698] Chr16:29813302 [GRCh38]
Chr16:29824623 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002232311] Chr16:29813347 [GRCh38]
Chr16:29824668 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.522T>G (p.Ser174Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001857940]|not provided [RCV000523026] Chr16:29813576 [GRCh38]
Chr16:29824897 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.546G>A (p.Gly182=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002666799] Chr16:29813600 [GRCh38]
Chr16:29824921 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.753G>A (p.Leu251=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001479708]|Inborn genetic diseases [RCV002396140] Chr16:29813807 [GRCh38]
Chr16:29825128 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.906C>T (p.Asp302=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002685630] Chr16:29814359 [GRCh38]
Chr16:29825680 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.649del (p.Arg217fs) deletion Episodic kinesigenic dyskinesia 1 [RCV000032970]|Episodic kinesigenic dyskinesia [RCV000820557]|Inborn genetic diseases [RCV003242966]|Infantile convulsions and choreoathetosis [RCV003389315]|PRRT2-related condition [RCV003415757]|Seizures, benign familial infantile, 2 [RCV001253175]|Seizures, benign familial infantile, 2 [RCV002496495]|not provided [RCV000188778] Chr16:29813695 [GRCh38]
Chr16:29825016 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.40G>A (p.Val14Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002966701] Chr16:29813094 [GRCh38]
Chr16:29824415 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1007del (p.Asn335_Leu336insTer) deletion Episodic kinesigenic dyskinesia [RCV002933300] Chr16:29814459 [GRCh38]
Chr16:29825780 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.885del (p.Asn296fs) deletion Episodic kinesigenic dyskinesia [RCV002890143] Chr16:29814337 [GRCh38]
Chr16:29825658 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.232G>C (p.Ala78Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001035651] Chr16:29813286 [GRCh38]
Chr16:29824607 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.422_432dup (p.Arg145fs) duplication Episodic kinesigenic dyskinesia [RCV003016735] Chr16:29813471..29813472 [GRCh38]
Chr16:29824792..29824793 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.115G>A (p.Ala39Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001034191] Chr16:29813169 [GRCh38]
Chr16:29824490 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.776del (p.Gly259fs) deletion Episodic kinesigenic dyskinesia [RCV001036192]|Seizure [RCV001255706] Chr16:29813825 [GRCh38]
Chr16:29825146 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.456del (p.Lys153fs) deletion Episodic kinesigenic dyskinesia [RCV003022750] Chr16:29813506 [GRCh38]
Chr16:29824827 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.259C>G (p.Leu87Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000800848]|not provided [RCV003322825] Chr16:29813313 [GRCh38]
Chr16:29824634 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.418C>T (p.Pro140Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001034040] Chr16:29813472 [GRCh38]
Chr16:29824793 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.916G>A (p.Ala306Thr) single nucleotide variant Inborn genetic diseases [RCV002372005]|not provided [RCV000153787] Chr16:29814369 [GRCh38]
Chr16:29825690 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.363C>G (p.Asp121Glu) single nucleotide variant not provided [RCV003321249] Chr16:29813417 [GRCh38]
Chr16:29824738 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.344G>A (p.Ser115Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002976376] Chr16:29813398 [GRCh38]
Chr16:29824719 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.648C>T (p.Pro216=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001450520]|Inborn genetic diseases [RCV002315297] Chr16:29813702 [GRCh38]
Chr16:29825023 [GRCh37]
Chr16:16p11.2		 likely benign
NM_024516.4(PAGR1):c.37A>T (p.Ser13Cys) single nucleotide variant Inborn genetic diseases [RCV002960593] Chr16:29816562 [GRCh38]
Chr16:29827883 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.961C>T (p.Leu321=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001436358] Chr16:29814414 [GRCh38]
Chr16:29825735 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.449C>G (p.Pro150Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002972641] Chr16:29813503 [GRCh38]
Chr16:29824824 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.932G>A (p.Arg311Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001368704]|not provided [RCV003313219] Chr16:29814385 [GRCh38]
Chr16:29825706 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001489666]|not provided [RCV000761932]|not specified [RCV000433887] Chr16:29814365 [GRCh38]
Chr16:29825686 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) deletion Episodic kinesigenic dyskinesia [RCV001386017]|not provided [RCV000278799] Chr16:29813376..29813377 [GRCh38]
Chr16:29824697..29824698 [GRCh37]
Chr16:16p11.2		 pathogenic|conflicting interpretations of pathogenicity
NM_145239.3(PRRT2):c.581A>C (p.Glu194Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002913568] Chr16:29813635 [GRCh38]
Chr16:29824956 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.871G>A (p.Ala291Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000792681]|not provided [RCV003317369] Chr16:29813925 [GRCh38]
Chr16:29825246 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.629C>T (p.Pro210Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002999907] Chr16:29813683 [GRCh38]
Chr16:29825004 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.961C>G (p.Leu321Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003008028] Chr16:29814414 [GRCh38]
Chr16:29825735 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.896A>G (p.Gln299Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003000115] Chr16:29814349 [GRCh38]
Chr16:29825670 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1014G>A (p.Val338=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002979533] Chr16:29814629 [GRCh38]
Chr16:29825950 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.417T>C (p.Ala139=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001431004] Chr16:29813471 [GRCh38]
Chr16:29824792 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001360334]|not provided [RCV000658377] Chr16:29813275 [GRCh38]
Chr16:29824596 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.520_521del (p.Ser174fs) microsatellite Episodic kinesigenic dyskinesia [RCV002889135] Chr16:29813571..29813572 [GRCh38]
Chr16:29824892..29824893 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.642C>A (p.Ala214=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001433554] Chr16:29813696 [GRCh38]
Chr16:29825017 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.998TCA[1] (p.Ile334del) microsatellite Episodic kinesigenic dyskinesia [RCV002949515] Chr16:29814451..29814453 [GRCh38]
Chr16:29825772..29825774 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1012+58_1013del deletion Episodic kinesigenic dyskinesia [RCV001067908] Chr16:29814522..29814627 [GRCh38]
Chr16:29825843..29825948 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.368G>T (p.Gly123Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001054294] Chr16:29813422 [GRCh38]
Chr16:29824743 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.674A>C (p.Glu225Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001063628] Chr16:29813728 [GRCh38]
Chr16:29825049 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.46G>A (p.Glu16Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001069135] Chr16:29813100 [GRCh38]
Chr16:29824421 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.525del (p.Glu177fs) deletion not provided [RCV000996249] Chr16:29813579 [GRCh38]
Chr16:29824900 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.811C>G (p.Leu271Val) single nucleotide variant not provided [RCV000996250] Chr16:29813865 [GRCh38]
Chr16:29825186 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.866C>T (p.Ala289Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001348530]|not provided [RCV000996251] Chr16:29813920 [GRCh38]
Chr16:29825241 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.895C>T (p.Gln299Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003032990] Chr16:29814348 [GRCh38]
Chr16:29825669 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.787C>T (p.Gln263Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003041252] Chr16:29813841 [GRCh38]
Chr16:29825162 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.182C>A (p.Ser61Ter) single nucleotide variant not provided [RCV001726990] Chr16:29813236 [GRCh38]
Chr16:29824557 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1013-74G>A single nucleotide variant not provided [RCV001726991] Chr16:29814554 [GRCh38]
Chr16:29825875 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.284C>G (p.Ser95Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003063190] Chr16:29813338 [GRCh38]
Chr16:29824659 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.201G>A (p.Leu67=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001464923] Chr16:29813255 [GRCh38]
Chr16:29824576 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.145C>G (p.Gln49Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003059492] Chr16:29813199 [GRCh38]
Chr16:29824520 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.407_408del (p.Pro136fs) deletion Episodic kinesigenic dyskinesia [RCV003029714] Chr16:29813461..29813462 [GRCh38]
Chr16:29824782..29824783 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.173del (p.Pro58fs) deletion not provided [RCV000188777] Chr16:29813224 [GRCh38]
Chr16:29824545 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001050069]|not provided [RCV001836935] Chr16:29814336 [GRCh38]
Chr16:29825657 [GRCh37]
Chr16:16p11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.1012G>A (p.Val338Met) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001862705]|not provided [RCV001092091] Chr16:29814465 [GRCh38]
Chr16:29825786 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.493G>T (p.Asp165Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003087559] Chr16:29813547 [GRCh38]
Chr16:29824868 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.698G>A (p.Ser233Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001040510] Chr16:29813752 [GRCh38]
Chr16:29825073 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.619_621del (p.Lys207del) deletion not provided [RCV000488058] Chr16:29813669..29813671 [GRCh38]
Chr16:29824990..29824992 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.745T>C (p.Ser249Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000555791]|PRRT2-Associated Paroxysmal Movement Disorders [RCV003329166]|not provided [RCV002483451] Chr16:29813799 [GRCh38]
Chr16:29825120 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.603C>G (p.His201Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000800897]|not provided [RCV001711482] Chr16:29813657 [GRCh38]
Chr16:29824978 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.963G>A (p.Leu321=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003029824] Chr16:29814416 [GRCh38]
Chr16:29825737 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.116C>T (p.Ala39Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003077378]|Inborn genetic diseases [RCV003085430] Chr16:29813170 [GRCh38]
Chr16:29824491 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.943C>T (p.Leu315Phe) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001046552] Chr16:29814396 [GRCh38]
Chr16:29825717 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.971G>C (p.Gly324Ala) single nucleotide variant not provided [RCV000188775] Chr16:29814424 [GRCh38]
Chr16:29825745 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.766G>A (p.Val256Met) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001067498] Chr16:29813820 [GRCh38]
Chr16:29825141 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.215_216del (p.Thr72fs) microsatellite not provided [RCV000188784] Chr16:29813267..29813268 [GRCh38]
Chr16:29824588..29824589 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1012+62A>T single nucleotide variant not provided [RCV003326938] Chr16:29814527 [GRCh38]
Chr16:29825848 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.401C>G (p.Pro134Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001058047] Chr16:29813455 [GRCh38]
Chr16:29824776 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1021T>A (p.Ter341Arg) single nucleotide variant not provided [RCV001815790] Chr16:29814636 [GRCh38]
Chr16:29825957 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001051614] Chr16:29813919 [GRCh38]
Chr16:29825240 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.128A>G (p.Asp43Gly) single nucleotide variant Episodic kinesigenic dyskinesia 1 [RCV003448476]|Episodic kinesigenic dyskinesia [RCV003058113] Chr16:29813182 [GRCh38]
Chr16:29824503 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.648C>G (p.Pro216=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001461188] Chr16:29813702 [GRCh38]
Chr16:29825023 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.296G>A (p.Cys99Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001052894] Chr16:29813350 [GRCh38]
Chr16:29824671 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.298del (p.Ser100fs) deletion Episodic kinesigenic dyskinesia [RCV003077774] Chr16:29813352 [GRCh38]
Chr16:29824673 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.679C>T (p.Arg227Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003074980] Chr16:29813733 [GRCh38]
Chr16:29825054 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.82T>C (p.Ser28Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001043752] Chr16:29813136 [GRCh38]
Chr16:29824457 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup) microsatellite Episodic kinesigenic dyskinesia 1 [RCV002471016]|Episodic kinesigenic dyskinesia [RCV001048090] Chr16:29813068..29813069 [GRCh38]
Chr16:29824389..29824390 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.71G>A (p.Gly24Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003067021] Chr16:29813125 [GRCh38]
Chr16:29824446 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.880-10C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV001505333]|not provided [RCV003130529] Chr16:29814323 [GRCh38]
Chr16:29825644 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.650del (p.Arg217fs) deletion Seizures, benign familial infantile, 2 [RCV000161142]|not provided [RCV001553390] Chr16:29813704 [GRCh38]
Chr16:29825025 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic|not provided
NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg) single nucleotide variant not provided [RCV001171909] Chr16:29814423 [GRCh38]
Chr16:29825744 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.106del (p.Gln36fs) deletion Episodic kinesigenic dyskinesia [RCV000819935] Chr16:29813157 [GRCh38]
Chr16:29824478 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter) duplication Episodic kinesigenic dyskinesia [RCV003594091]|not provided [RCV001092087] Chr16:29813080..29813081 [GRCh38]
Chr16:29824401..29824402 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1013-62T>G single nucleotide variant PRRT2-related condition [RCV003916425]|not provided [RCV002262512] Chr16:29814566 [GRCh38]
Chr16:29825887 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.649C>A (p.Arg217=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001370790]|not provided [RCV003132480] Chr16:29813703 [GRCh38]
Chr16:29825024 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000865807]|Inborn genetic diseases [RCV002426733]|PRRT2-related condition [RCV003907454]|not provided [RCV001537797]|not specified [RCV000153785] Chr16:29813882 [GRCh38]
Chr16:29825203 [GRCh37]
Chr16:16p11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.880-20A>T single nucleotide variant not provided [RCV000153786] Chr16:29814313 [GRCh38]
Chr16:29825634 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000791928]|not provided [RCV001311442] Chr16:29814631 [GRCh38]
Chr16:29825952 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.368G>A (p.Gly123Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000525650] Chr16:29813422 [GRCh38]
Chr16:29824743 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.14G>C (p.Ser5Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000467192] Chr16:29813068 [GRCh38]
Chr16:29824389 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.845C>T (p.Pro282Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000822741] Chr16:29813899 [GRCh38]
Chr16:29825220 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.757G>A (p.Gly253Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000699449] Chr16:29813811 [GRCh38]
Chr16:29825132 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.904_905delinsT (p.Asp302fs) indel not provided [RCV002276027] Chr16:29814357..29814358 [GRCh38]
Chr16:29825678..29825679 [GRCh37]
Chr16:16p11.2		 pathogenic
NC_000016.10:g.(?_29813045)_(29814648_?)del deletion Episodic kinesigenic dyskinesia [RCV000800041] Chr16:29813045..29814648 [GRCh38]
Chr16:29824366..29825969 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000694996] Chr16:29813601 [GRCh38]
Chr16:29824922 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs) deletion Episodic kinesigenic dyskinesia [RCV000816580] Chr16:29813751..29813752 [GRCh38]
Chr16:29825072..29825073 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.8C>G (p.Ala3Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001234649]|not specified [RCV000518225] Chr16:29813062 [GRCh38]
Chr16:29824383 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.66C>T (p.Gly22=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000530612]|not specified [RCV000600678] Chr16:29813120 [GRCh38]
Chr16:29824441 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.99C>T (p.Gly33=) single nucleotide variant not provided [RCV000903867] Chr16:29813153 [GRCh38]
Chr16:29824474 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.27T>G (p.Ser9=) single nucleotide variant not provided [RCV000923172] Chr16:29813081 [GRCh38]
Chr16:29824402 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.93A>G (p.Glu31=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594049] Chr16:29813147 [GRCh38]
Chr16:29824468 [GRCh37]
Chr16:16p11.2		 likely benign
NM_024516.4(PAGR1):c.566-9C>T single nucleotide variant not provided [RCV000889268] Chr16:29819546 [GRCh38]
Chr16:29830867 [GRCh37]
Chr16:16p11.2		 benign
NC_000016.10:g.(?_29813055)_(29904965_?)del deletion Episodic kinesigenic dyskinesia [RCV000708394] Chr16:29813055..29904965 [GRCh38]
Chr16:29824376..29916286 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.347A>T (p.Lys116Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758918]|not provided [RCV000731061] Chr16:29813401 [GRCh38]
Chr16:29824722 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.797G>A (p.Arg266Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000695121] Chr16:29813851 [GRCh38]
Chr16:29825172 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.734G>A (p.Arg245His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000543216] Chr16:29813788 [GRCh38]
Chr16:29825109 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.919C>A (p.Gln307Lys) single nucleotide variant not provided [RCV003135150] Chr16:29814372 [GRCh38]
Chr16:29825693 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.694C>T (p.His232Tyr) single nucleotide variant not provided [RCV002211347] Chr16:29813748 [GRCh38]
Chr16:29825069 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.309C>T (p.Asp103=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594043]|not provided [RCV000827342] Chr16:29813363 [GRCh38]
Chr16:29824684 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.10:g.(?_29813035)_(29814658_?)del deletion Episodic kinesigenic dyskinesia [RCV000534969] Chr16:29813035..29814658 [GRCh38]
Chr16:29824356..29825979 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.864C>A (p.Phe288Leu) single nucleotide variant not provided [RCV000519530] Chr16:29813918 [GRCh38]
Chr16:29825239 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-12C>T single nucleotide variant not provided [RCV000830400] Chr16:29814616 [GRCh38]
Chr16:29825937 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.85G>T (p.Glu29Ter) single nucleotide variant not provided [RCV000520994] Chr16:29813139 [GRCh38]
Chr16:29824460 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.878T>G (p.Met293Arg) single nucleotide variant not provided [RCV000521720] Chr16:29813932 [GRCh38]
Chr16:29825253 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.582G>C (p.Glu194Asp) single nucleotide variant not provided [RCV000175975] Chr16:29813636 [GRCh38]
Chr16:29824957 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.856G>A (p.Val286Met) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000811451] Chr16:29813910 [GRCh38]
Chr16:29825231 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.303del (p.Glu102fs) deletion Episodic kinesigenic dyskinesia [RCV000793404] Chr16:29813354 [GRCh38]
Chr16:29824675 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.848_863del (p.Val283fs) deletion Episodic kinesigenic dyskinesia [RCV000820861] Chr16:29813902..29813917 [GRCh38]
Chr16:29825223..29825238 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001439830]|not provided [RCV000178393] Chr16:29814635 [GRCh38]
Chr16:29825956 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.696C>T (p.His232=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000868469] Chr16:29813750 [GRCh38]
Chr16:29825071 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.433C>T (p.Arg145Trp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000794281] Chr16:29813487 [GRCh38]
Chr16:29824808 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.577dup (p.Glu193fs) duplication not provided [RCV000494260] Chr16:29813627..29813628 [GRCh38]
Chr16:29824948..29824949 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000554817]|Inborn genetic diseases [RCV002317799]|not provided [RCV001795478]|not specified [RCV000384612] Chr16:29813618 [GRCh38]
Chr16:29824939 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.742dup (p.Ser248fs) duplication Episodic kinesigenic dyskinesia [RCV000804400] Chr16:29813795..29813796 [GRCh38]
Chr16:29825116..29825117 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1012+20A>G single nucleotide variant Episodic kinesigenic dyskinesia [RCV002197183]|not provided [RCV002292683] Chr16:29814485 [GRCh38]
Chr16:29825806 [GRCh37]
Chr16:16p11.2		 likely benign
NC_000016.9:g.(?_29824366)_(29825969_?)dup duplication Episodic kinesigenic dyskinesia [RCV000802567] Chr16:29813045..29814648 [GRCh38]
Chr16:29824366..29825969 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000824097] Chr16:29813897 [GRCh38]
Chr16:29825218 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000864918]|Inborn genetic diseases [RCV002444765]|not provided [RCV001200406]|not specified [RCV000188758] Chr16:29813279 [GRCh38]
Chr16:29824600 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000815756]|Seizure [RCV000781986] Chr16:29813179 [GRCh38]
Chr16:29824500 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.239A>G (p.Glu80Gly) single nucleotide variant not provided [RCV000486778] Chr16:29813293 [GRCh38]
Chr16:29824614 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) duplication not provided [RCV000188785] Chr16:29813482..29813483 [GRCh38]
Chr16:29824803..29824804 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001215553]|not provided [RCV002511057] Chr16:29814424 [GRCh38]
Chr16:29825745 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000229650]|not provided [RCV001550399] Chr16:29813773 [GRCh38]
Chr16:29825094 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.299G>A (p.Ser100Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000809167] Chr16:29813353 [GRCh38]
Chr16:29824674 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000809721]|not provided [RCV000521537] Chr16:29813139 [GRCh38]
Chr16:29824460 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000705952]|not provided [RCV000175974] Chr16:29813278 [GRCh38]
Chr16:29824599 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.641_642insA (p.Arg217fs) insertion not provided [RCV001092089] Chr16:29813695..29813696 [GRCh38]
Chr16:29825016..29825017 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.-65-28_-65-7dup duplication not specified [RCV000478231] Chr16:29812954..29812955 [GRCh38]
Chr16:29824275..29824276 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs) microsatellite Episodic kinesigenic dyskinesia 1 [RCV001004741] Chr16:29813100..29813101 [GRCh38]
Chr16:29824421..29824422 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala) single nucleotide variant Seizures, benign familial infantile, 2 [RCV001004750] Chr16:29813889 [GRCh38]
Chr16:29825210 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.227C>T (p.Ala76Val) single nucleotide variant not specified [RCV003226886] Chr16:29813281 [GRCh38]
Chr16:29824602 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.618A>T (p.Lys206Asn) single nucleotide variant not provided [RCV000592351] Chr16:29813672 [GRCh38]
Chr16:29824993 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1012+7G>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV001395762] Chr16:29814472 [GRCh38]
Chr16:29825793 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.222C>G (p.Thr74=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001477522]|not provided [RCV000595241] Chr16:29813276 [GRCh38]
Chr16:29824597 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001230304]|not provided [RCV002480756] Chr16:29814344 [GRCh38]
Chr16:29825665 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.997G>A (p.Val333Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000644949]|not provided [RCV001558744] Chr16:29814450 [GRCh38]
Chr16:29825771 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.709G>A (p.Gly237Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000644955] Chr16:29813763 [GRCh38]
Chr16:29825084 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) deletion Episodic kinesigenic dyskinesia [RCV002519065]|not provided [RCV000331026] Chr16:29813817..29813826 [GRCh38]
Chr16:29825138..29825147 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.966G>A (p.Val322=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001370781] Chr16:29814419 [GRCh38]
Chr16:29825740 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.143C>T (p.Pro48Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001361704] Chr16:29813197 [GRCh38]
Chr16:29824518 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.543_544del (p.Asn181fs) deletion Episodic kinesigenic dyskinesia [RCV001388476] Chr16:29813597..29813598 [GRCh38]
Chr16:29824918..29824919 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_024516.4(PAGR1):c.217A>C (p.Ser73Arg) single nucleotide variant Inborn genetic diseases [RCV003279986] Chr16:29816742 [GRCh38]
Chr16:29828063 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer) deletion Episodic kinesigenic dyskinesia [RCV001381944]|not provided [RCV002504638] Chr16:29814365..29814383 [GRCh38]
Chr16:29825686..29825704 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.503del (p.Pro168fs) deletion Episodic kinesigenic dyskinesia [RCV001382475] Chr16:29813554 [GRCh38]
Chr16:29824875 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.279G>A (p.Gly93=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000982617]|Inborn genetic diseases [RCV002434363] Chr16:29813333 [GRCh38]
Chr16:29824654 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.87A>G (p.Glu29=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002524894]|not specified [RCV000423338] Chr16:29813141 [GRCh38]
Chr16:29824462 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.397del (p.Glu133fs) deletion Seizures, benign familial infantile, 2 [RCV003225995] Chr16:29813451 [GRCh38]
Chr16:29824772 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.32T>C (p.Met11Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001230081] Chr16:29813086 [GRCh38]
Chr16:29824407 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.855C>T (p.Ile285=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001439912] Chr16:29813909 [GRCh38]
Chr16:29825230 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.723T>C (p.Gly241=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001456640] Chr16:29813777 [GRCh38]
Chr16:29825098 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.359C>T (p.Ala120Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002615571] Chr16:29813413 [GRCh38]
Chr16:29824734 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) deletion Episodic kinesigenic dyskinesia [RCV003758742]|not provided [RCV000334772] Chr16:29813263..29813264 [GRCh38]
Chr16:29824584..29824585 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn) single nucleotide variant Seizures, benign familial infantile, 2 [RCV003225612] Chr16:29814454 [GRCh38]
Chr16:29825775 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.624C>T (p.Ser208=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001457067] Chr16:29813678 [GRCh38]
Chr16:29824999 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.136G>A (p.Glu46Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002615767] Chr16:29813190 [GRCh38]
Chr16:29824511 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.774G>T (p.Gly258=) single nucleotide variant not provided [RCV001288688] Chr16:29813828 [GRCh38]
Chr16:29825149 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.192G>A (p.Lys64=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001487532] Chr16:29813246 [GRCh38]
Chr16:29824567 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.34A>G (p.Lys12Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002618518] Chr16:29813088 [GRCh38]
Chr16:29824409 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.761C>G (p.Pro254Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002646439] Chr16:29813815 [GRCh38]
Chr16:29825136 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.921del (p.Gln307fs) deletion Episodic kinesigenic dyskinesia [RCV001238673] Chr16:29814374 [GRCh38]
Chr16:29825695 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.879+8C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV001467931] Chr16:29813941 [GRCh38]
Chr16:29825262 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.168G>A (p.Ala56=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001359621]|PRRT2-related condition [RCV003928862] Chr16:29813222 [GRCh38]
Chr16:29824543 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.39G>A (p.Gly13=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001490327] Chr16:29813093 [GRCh38]
Chr16:29824414 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.960G>A (p.Ala320=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001521517]|Inborn genetic diseases [RCV002372425]|not provided [RCV003456442] Chr16:29814413 [GRCh38]
Chr16:29825734 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.464C>G (p.Ala155Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001240880] Chr16:29813518 [GRCh38]
Chr16:29824839 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.176T>A (p.Val59Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001247164] Chr16:29813230 [GRCh38]
Chr16:29824551 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.-65-15CTC[2] microsatellite not provided [RCV002464268] Chr16:29812975..29812977 [GRCh38]
Chr16:29824296..29824298 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.-30T>C single nucleotide variant not provided [RCV000992708] Chr16:29813025 [GRCh38]
Chr16:29824346 [GRCh37]
Chr16:16p11.2		 benign|likely benign
NM_145239.3(PRRT2):c.880-6C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV002110054] Chr16:29814327 [GRCh38]
Chr16:29825648 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.194C>G (p.Ala65Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002866122] Chr16:29813248 [GRCh38]
Chr16:29824569 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002233245] Chr16:29813895 [GRCh38]
Chr16:29825216 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.1013-10T>C single nucleotide variant Episodic kinesigenic dyskinesia [RCV002213042] Chr16:29814618 [GRCh38]
Chr16:29825939 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.655C>T (p.Leu219=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002151473] Chr16:29813709 [GRCh38]
Chr16:29825030 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.545G>A (p.Gly182Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001901276] Chr16:29813599 [GRCh38]
Chr16:29824920 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.867T>A (p.Ala289=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002217817] Chr16:29813921 [GRCh38]
Chr16:29825242 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002233441] Chr16:29813539 [GRCh38]
Chr16:29824860 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.323C>G (p.Thr108Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002801528] Chr16:29813377 [GRCh38]
Chr16:29824698 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.658C>T (p.Gln220Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001904201] Chr16:29813712 [GRCh38]
Chr16:29825033 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.733_744del (p.Arg245_Ser248del) deletion Episodic kinesigenic dyskinesia [RCV001223807] Chr16:29813784..29813795 [GRCh38]
Chr16:29825105..29825116 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.19G>A (p.Glu7Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001870172] Chr16:29813073 [GRCh38]
Chr16:29824394 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.427G>T (p.Asp143Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002895820] Chr16:29813481 [GRCh38]
Chr16:29824802 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.879+4A>C single nucleotide variant Episodic kinesigenic dyskinesia [RCV001038844] Chr16:29813937 [GRCh38]
Chr16:29825258 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024516.4(PAGR1):c.404G>A (p.Arg135Gln) single nucleotide variant Inborn genetic diseases [RCV002873219] Chr16:29816929 [GRCh38]
Chr16:29828250 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.880-1G>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV000803890]|Infantile convulsions and choreoathetosis [RCV003313980] Chr16:29814332 [GRCh38]
Chr16:29825653 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.1023A>G (p.Ter341Trp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002876409] Chr16:29814638 [GRCh38]
Chr16:29825959 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.696C>G (p.His232Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002913967]|not provided [RCV003427525] Chr16:29813750 [GRCh38]
Chr16:29825071 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-34C>A single nucleotide variant not provided [RCV001816172] Chr16:29814594 [GRCh38]
Chr16:29825915 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.457_458del (p.Lys153fs) deletion Episodic kinesigenic dyskinesia 1 [RCV003335790] Chr16:29813511..29813512 [GRCh38]
Chr16:29824832..29824833 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.1013-29C>T single nucleotide variant not provided [RCV000996252]|not specified [RCV000188760] Chr16:29814599 [GRCh38]
Chr16:29825920 [GRCh37]
Chr16:16p11.2		 benign|uncertain significance
NM_145239.3(PRRT2):c.638G>A (p.Gly213Glu) single nucleotide variant not specified [RCV000188766] Chr16:29813692 [GRCh38]
Chr16:29825013 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.872C>A (p.Ala291Asp) single nucleotide variant not provided [RCV000188772] Chr16:29813926 [GRCh38]
Chr16:29825247 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001307468]|Seizures, benign familial infantile, 2 [RCV001358685]|not provided [RCV000188773] Chr16:29814384 [GRCh38]
Chr16:29825705 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.455C>T (p.Pro152Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003081377] Chr16:29813509 [GRCh38]
Chr16:29824830 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.844C>T (p.Pro282Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003103182]|not provided [RCV002464903] Chr16:29813898 [GRCh38]
Chr16:29825219 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.138G>A (p.Glu46=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003055743] Chr16:29813192 [GRCh38]
Chr16:29824513 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs) insertion Episodic kinesigenic dyskinesia [RCV001058348]|Inborn genetic diseases [RCV002436628] Chr16:29813336..29813337 [GRCh38]
Chr16:29824657..29824658 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.32T>G (p.Met11Arg) single nucleotide variant not provided [RCV000188781] Chr16:29813086 [GRCh38]
Chr16:29824407 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.623C>G (p.Ser208Cys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003071396] Chr16:29813677 [GRCh38]
Chr16:29824998 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.971dup (p.Val325fs) duplication Episodic kinesigenic dyskinesia 1 [RCV002249678]|Episodic kinesigenic dyskinesia [RCV001208461]|PRRT2-related condition [RCV003983836]|Seizures, benign familial infantile, 2 [RCV001644913]|not provided [RCV001092090] Chr16:29814418..29814419 [GRCh38]
Chr16:29825739..29825740 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001363224]|not provided [RCV000188782] Chr16:29813677 [GRCh38]
Chr16:29824998 [GRCh37]
Chr16:16p11.2		 uncertain significance
NC_000016.9:g.(?_29824311)_(29827202_?)dup duplication Episodic kinesigenic dyskinesia 1 [RCV000475685] Chr16:29812990..29815881 [GRCh38]
Chr16:29824311..29827202 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.-15dup duplication not provided [RCV000841479] Chr16:29813036..29813037 [GRCh38]
Chr16:29824357..29824358 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000699393] Chr16:29813715 [GRCh38]
Chr16:29825036 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.449dup (p.Thr151fs) duplication Episodic kinesigenic dyskinesia [RCV001215131]|not provided [RCV001092088] Chr16:29813501..29813502 [GRCh38]
Chr16:29824822..29824823 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000468258]|Seizures, benign familial infantile, 2 [RCV000765286]|not provided [RCV003884544] Chr16:29813689 [GRCh38]
Chr16:29825010 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.250del (p.Ala84fs) deletion Seizures, benign familial infantile, 2 [RCV002290855]|not provided [RCV002262511] Chr16:29813303 [GRCh38]
Chr16:29824624 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.455C>A (p.Pro152His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000476515]|not specified [RCV000413274] Chr16:29813509 [GRCh38]
Chr16:29824830 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.914G>C (p.Gly305Ala) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001372496] Chr16:29814367 [GRCh38]
Chr16:29825688 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.354C>T (p.Ala118=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001407622] Chr16:29813408 [GRCh38]
Chr16:29824729 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.945C>G (p.Leu315=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001422480] Chr16:29814398 [GRCh38]
Chr16:29825719 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.15C>T (p.Ser5=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001424591] Chr16:29813069 [GRCh38]
Chr16:29824390 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.322A>T (p.Thr108Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001231146] Chr16:29813376 [GRCh38]
Chr16:29824697 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.708A>G (p.Pro236=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001426540] Chr16:29813762 [GRCh38]
Chr16:29825083 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.702G>A (p.Gly234=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001486294] Chr16:29813756 [GRCh38]
Chr16:29825077 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.495C>T (p.Asp165=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002640305] Chr16:29813549 [GRCh38]
Chr16:29824870 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.31A>T (p.Met11Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001371955] Chr16:29813085 [GRCh38]
Chr16:29824406 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024516.4(PAGR1):c.185C>T (p.Ser62Phe) single nucleotide variant Inborn genetic diseases [RCV003381255] Chr16:29816710 [GRCh38]
Chr16:29828031 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn) single nucleotide variant Infantile convulsions and choreoathetosis [RCV001253390] Chr16:29814439 [GRCh38]
Chr16:29825760 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.353C>A (p.Ala118Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002631137] Chr16:29813407 [GRCh38]
Chr16:29824728 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.341_342del (p.Val114fs) deletion Seizures, benign familial infantile, 2 [RCV001253590] Chr16:29813394..29813395 [GRCh38]
Chr16:29824715..29824716 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003770320]|Infantile convulsions and choreoathetosis [RCV001253623] Chr16:29813847 [GRCh38]
Chr16:29825168 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.58G>A (p.Val20Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002592314] Chr16:29813112 [GRCh38]
Chr16:29824433 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.597G>A (p.Glu199=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002624637] Chr16:29813651 [GRCh38]
Chr16:29824972 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.879+1_879+2insGGTCCCA insertion Episodic kinesigenic dyskinesia [RCV001378291] Chr16:29813934..29813935 [GRCh38]
Chr16:29825255..29825256 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.880-5C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV001448112] Chr16:29814328 [GRCh38]
Chr16:29825649 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.435G>T (p.Arg145=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001450637] Chr16:29813489 [GRCh38]
Chr16:29824810 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.880-1G>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV001385717] Chr16:29814332 [GRCh38]
Chr16:29825653 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000688995]|Inborn genetic diseases [RCV002544836]|Seizures, benign familial infantile, 2 [RCV000765285] Chr16:29813488 [GRCh38]
Chr16:29824809 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.667G>A (p.Val223Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001359644] Chr16:29813721 [GRCh38]
Chr16:29825042 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.219G>A (p.Glu73=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002587622] Chr16:29813273 [GRCh38]
Chr16:29824594 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.584G>A (p.Gly195Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759802]|Inborn genetic diseases [RCV003291827] Chr16:29813638 [GRCh38]
Chr16:29824959 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.186G>T (p.Gly62=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002570125] Chr16:29813240 [GRCh38]
Chr16:29824561 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.31A>C (p.Met11Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002588220] Chr16:29813085 [GRCh38]
Chr16:29824406 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.649C>G (p.Arg217Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001303040]|Inborn genetic diseases [RCV002539515] Chr16:29813703 [GRCh38]
Chr16:29825024 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.-65-2dup duplication not provided [RCV000658274] Chr16:29812987..29812988 [GRCh38]
Chr16:29824308..29824309 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.996C>T (p.Cys332=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001422893] Chr16:29814449 [GRCh38]
Chr16:29825770 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.46G>T (p.Glu16Ter) single nucleotide variant Seizures, benign familial infantile, 2 [RCV003232633] Chr16:29813100 [GRCh38]
Chr16:29824421 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.923G>C (p.Arg308Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001227778] Chr16:29814376 [GRCh38]
Chr16:29825697 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.274G>A (p.Gly92Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001237847] Chr16:29813328 [GRCh38]
Chr16:29824649 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.663G>C (p.Gln221His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV002573934] Chr16:29813717 [GRCh38]
Chr16:29825038 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.55A>C (p.Lys19Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001228756] Chr16:29813109 [GRCh38]
Chr16:29824430 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.739_740delinsAT (p.Pro247Ile) indel Episodic kinesigenic dyskinesia [RCV001370816] Chr16:29813793..29813794 [GRCh38]
Chr16:29825114..29825115 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.280G>A (p.Glu94Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001371229] Chr16:29813334 [GRCh38]
Chr16:29824655 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.842G>A (p.Trp281Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001390493] Chr16:29813896 [GRCh38]
Chr16:29825217 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.579dup (p.Glu194fs) duplication Episodic kinesigenic dyskinesia [RCV001228908] Chr16:29813631..29813632 [GRCh38]
Chr16:29824952..29824953 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.641C>G (p.Ala214Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001344558]|Inborn genetic diseases [RCV002547433] Chr16:29813695 [GRCh38]
Chr16:29825016 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.936A>T (p.Val312=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001469251]|not specified [RCV000420197] Chr16:29814389 [GRCh38]
Chr16:29825710 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV000644951]|Inborn genetic diseases [RCV002529372]|not provided [RCV000992709] Chr16:29813809 [GRCh38]
Chr16:29825130 [GRCh37]
Chr16:16p11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs) duplication not provided [RCV000311228] Chr16:29813241..29813242 [GRCh38]
Chr16:29824562..29824563 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) single nucleotide variant lethal neurodevelopmental disorder [RCV001526669]|not provided [RCV002468258] Chr16:29816799 [GRCh38]
Chr16:29828120 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_024516.4(PAGR1):c.374T>C (p.Leu125Pro) single nucleotide variant Inborn genetic diseases [RCV003195930] Chr16:29816899 [GRCh38]
Chr16:29828220 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.304del (p.Glu102fs) deletion Seizures, benign familial infantile, 2 [RCV000768058] Chr16:29813358 [GRCh38]
Chr16:29824679 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.799del (p.Asp267fs) deletion Infantile convulsions and choreoathetosis [RCV000761542] Chr16:29813851 [GRCh38]
Chr16:29825172 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) deletion Episodic kinesigenic dyskinesia [RCV001389771]|not provided [RCV001009279] Chr16:29813647..29813648 [GRCh38]
Chr16:29824968..29824969 [GRCh37]
Chr16:16p11.2		 pathogenic|likely pathogenic
NM_145239.3(PRRT2):c.776G>T (p.Gly259Val) single nucleotide variant not provided [RCV003228313] Chr16:29813830 [GRCh38]
Chr16:29825151 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) deletion Episodic kinesigenic dyskinesia 1 [RCV000625699] Chr16:29813586..29813589 [GRCh38]
Chr16:29824907..29824910 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.471A>G (p.Gln157=) single nucleotide variant not specified [RCV000609239] Chr16:29813525 [GRCh38]
Chr16:29824846 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.879+20A>G single nucleotide variant not specified [RCV000609296] Chr16:29813953 [GRCh38]
Chr16:29825274 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.267A>G (p.Leu89=) single nucleotide variant Inborn genetic diseases [RCV002428875] Chr16:29813321 [GRCh38]
Chr16:29824642 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.471A>C (p.Gln157His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594635]|Inborn genetic diseases [RCV003204332] Chr16:29813525 [GRCh38]
Chr16:29824846 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.264C>T (p.Ser88=) single nucleotide variant not specified [RCV000600763] Chr16:29813318 [GRCh38]
Chr16:29824639 [GRCh37]
Chr16:16p11.2		 likely benign
NM_024516.4(PAGR1):c.11C>T (p.Ala4Val) single nucleotide variant Inborn genetic diseases [RCV003345404] Chr16:29816536 [GRCh38]
Chr16:29827857 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.357T>G (p.Thr119=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001423996]|Inborn genetic diseases [RCV002460074]|not specified [RCV000444424] Chr16:29813411 [GRCh38]
Chr16:29824732 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.640delinsCC (p.Ala214fs) indel not provided [RCV003232967] Chr16:29813694 [GRCh38]
Chr16:29825015 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.170C>A (p.Ala57Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001302598] Chr16:29813224 [GRCh38]
Chr16:29824545 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.165T>G (p.Thr55=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594138]|not provided [RCV001552599] Chr16:29813219 [GRCh38]
Chr16:29824540 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.472C>T (p.Pro158Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001307709] Chr16:29813526 [GRCh38]
Chr16:29824847 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.281A>T (p.Glu94Val) single nucleotide variant not provided [RCV001508780] Chr16:29813335 [GRCh38]
Chr16:29824656 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.510dup (p.Leu171fs) duplication Episodic kinesigenic dyskinesia 1 [RCV000055989] Chr16:29813562..29813563 [GRCh38]
Chr16:29824883..29824884 [GRCh37]
Chr16:16p11.2		 pathogenic|not provided
NM_145239.3(PRRT2):c.922C>G (p.Arg308Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001337201] Chr16:29814375 [GRCh38]
Chr16:29825696 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.809T>A (p.Ile270Asn) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001342282] Chr16:29813863 [GRCh38]
Chr16:29825184 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.926T>C (p.Leu309Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001351654] Chr16:29814379 [GRCh38]
Chr16:29825700 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1012+19C>T single nucleotide variant not specified [RCV000424023] Chr16:29814484 [GRCh38]
Chr16:29825805 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.-32C>T single nucleotide variant not specified [RCV000429257] Chr16:29813023 [GRCh38]
Chr16:29824344 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.455C>G (p.Pro152Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001320099] Chr16:29813509 [GRCh38]
Chr16:29824830 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-61C>T single nucleotide variant not provided [RCV001558858] Chr16:29814567 [GRCh38]
Chr16:29825888 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.349G>C (p.Glu117Gln) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001302189] Chr16:29813403 [GRCh38]
Chr16:29824724 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001324218]|not specified [RCV003387996] Chr16:29813544 [GRCh38]
Chr16:29824865 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.144G>A (p.Pro48=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001499927] Chr16:29813198 [GRCh38]
Chr16:29824519 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.-25G>C single nucleotide variant not specified [RCV000434250] Chr16:29813030 [GRCh38]
Chr16:29824351 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.108G>C (p.Gln36His) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001298184] Chr16:29813162 [GRCh38]
Chr16:29824483 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.*11C>T single nucleotide variant not specified [RCV000441485] Chr16:29814649 [GRCh38]
Chr16:29825970 [GRCh37]
Chr16:16p11.2		 benign
NM_145239.3(PRRT2):c.-58C>T single nucleotide variant not specified [RCV000443599] Chr16:29812997 [GRCh38]
Chr16:29824318 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1013-2A>G single nucleotide variant Episodic kinesigenic dyskinesia [RCV001303488] Chr16:29814626 [GRCh38]
Chr16:29825947 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.232G>A (p.Ala78Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001323024] Chr16:29813286 [GRCh38]
Chr16:29824607 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_024516.4(PAGR1):c.388G>A (p.Glu130Lys) single nucleotide variant Inborn genetic diseases [RCV003377053] Chr16:29816913 [GRCh38]
Chr16:29828234 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.679C>G (p.Arg227Gly) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001326196] Chr16:29813733 [GRCh38]
Chr16:29825054 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_002383.4(MAZ):c.1280-528C>A single nucleotide variant Inborn genetic diseases [RCV003367012] Chr16:29809549 [GRCh38]
Chr16:29820870 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.879+10A>G single nucleotide variant Episodic kinesigenic dyskinesia [RCV001504077] Chr16:29813943 [GRCh38]
Chr16:29825264 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs) indel not provided [RCV001508781] Chr16:29814416..29814431 [GRCh38]
Chr16:29825737..29825752 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.211A>T (p.Thr71Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001348369] Chr16:29813265 [GRCh38]
Chr16:29824586 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.226G>A (p.Ala76Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001349058] Chr16:29813280 [GRCh38]
Chr16:29824601 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.118G>A (p.Gly40Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001347316] Chr16:29813172 [GRCh38]
Chr16:29824493 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.721G>A (p.Gly241Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001337275] Chr16:29813775 [GRCh38]
Chr16:29825096 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.83C>G (p.Ser28Cys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001348313] Chr16:29813137 [GRCh38]
Chr16:29824458 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.979ATC[2] (p.Ile329del) microsatellite not specified [RCV000414104] Chr16:29814430..29814432 [GRCh38]
Chr16:29825751..29825753 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.-57G>A single nucleotide variant not specified [RCV000433230] Chr16:29812998 [GRCh38]
Chr16:29824319 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.767T>A (p.Val256Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001304934] Chr16:29813821 [GRCh38]
Chr16:29825142 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.917C>T (p.Ala306Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001309672] Chr16:29814370 [GRCh38]
Chr16:29825691 [GRCh37]
Chr16:16p11.2		 likely pathogenic|uncertain significance
NM_145239.3(PRRT2):c.236C>T (p.Ser79Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001307085] Chr16:29813290 [GRCh38]
Chr16:29824611 [GRCh37]
Chr16:16p11.2		 likely benign|uncertain significance
NM_145239.3(PRRT2):c.509T>G (p.Ile170Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV001317612] Chr16:29813563 [GRCh38]
Chr16:29824884 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.224C>G (p.Pro75Arg) single nucleotide variant PRRT2-related condition [RCV003391589] Chr16:29813278 [GRCh38]
Chr16:29824599 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.504T>G (p.Pro168=) single nucleotide variant not provided [RCV003426650] Chr16:29813558 [GRCh38]
Chr16:29824879 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.739_740delinsG (p.Pro247fs) indel Episodic kinesigenic dyskinesia 1 [RCV003479635] Chr16:29813793..29813794 [GRCh38]
Chr16:29825114..29825115 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1013-41T>C single nucleotide variant not provided [RCV003426653] Chr16:29814587 [GRCh38]
Chr16:29825908 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.284C>A (p.Ser95Ter) single nucleotide variant Infantile convulsions and choreoathetosis [RCV003389297] Chr16:29813338 [GRCh38]
Chr16:29824659 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.840G>A (p.Met280Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003825269] Chr16:29813894 [GRCh38]
Chr16:29825215 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_002383.4(MAZ):c.1335A>G (p.Ala445=) single nucleotide variant not provided [RCV003411303] Chr16:29810132 [GRCh38]
Chr16:29821453 [GRCh37]
Chr16:16p11.2		 likely benign
NM_002383.4(MAZ):c.1314GGCAGCGGC[1] (p.Ala446_Ala448del) microsatellite not provided [RCV003419275] Chr16:29810109..29810117 [GRCh38]
Chr16:29821430..29821438 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.640del (p.Ala214fs) deletion PRRT2-related condition [RCV003412407] Chr16:29813691 [GRCh38]
Chr16:29825012 [GRCh37]
Chr16:16p11.2		 likely pathogenic
NM_145239.3(PRRT2):c.1012+42T>C single nucleotide variant not provided [RCV003426652] Chr16:29814507 [GRCh38]
Chr16:29825828 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.464C>T (p.Ala155Val) single nucleotide variant PRRT2-related condition [RCV003412473] Chr16:29813518 [GRCh38]
Chr16:29824839 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.741del (p.Ser248fs) deletion Episodic kinesigenic dyskinesia 1 [RCV003404870]|Episodic kinesigenic dyskinesia [RCV003594668] Chr16:29813792 [GRCh38]
Chr16:29825113 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1004A>G (p.Asn335Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003778250]|PRRT2-related condition [RCV003397704] Chr16:29814457 [GRCh38]
Chr16:29825778 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-29dup duplication PRRT2-related condition [RCV003417033] Chr16:29814593..29814594 [GRCh38]
Chr16:29825914..29825915 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.594T>C (p.Pro198=) single nucleotide variant not provided [RCV003426651] Chr16:29813648 [GRCh38]
Chr16:29824969 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.740C>G (p.Pro247Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759842]|not specified [RCV003404871] Chr16:29813794 [GRCh38]
Chr16:29825115 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.65G>A (p.Gly22Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003848762] Chr16:29813119 [GRCh38]
Chr16:29824440 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.650G>C (p.Arg217Pro) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003876776] Chr16:29813704 [GRCh38]
Chr16:29825025 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-14C>G single nucleotide variant Episodic kinesigenic dyskinesia [RCV003877691] Chr16:29814614 [GRCh38]
Chr16:29825935 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.846T>A (p.Pro282=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003881153] Chr16:29813900 [GRCh38]
Chr16:29825221 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.529G>A (p.Glu177Lys) single nucleotide variant not provided [RCV003491867] Chr16:29813583 [GRCh38]
Chr16:29824904 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.258C>T (p.Asp86=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003826104] Chr16:29813312 [GRCh38]
Chr16:29824633 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1 copy number loss Proximal 16p11.2 microdeletion syndrome [RCV003883244] Chr16:29329272..30178707 [GRCh38]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.74C>G (p.Pro25Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593658] Chr16:29813128 [GRCh38]
Chr16:29824449 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.500C>T (p.Thr167Ile) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595232] Chr16:29813554 [GRCh38]
Chr16:29824875 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.215C>G (p.Thr72Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595155] Chr16:29813269 [GRCh38]
Chr16:29824590 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.913G>C (p.Gly305Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595384] Chr16:29814366 [GRCh38]
Chr16:29825687 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.420C>G (p.Pro140=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595401] Chr16:29813474 [GRCh38]
Chr16:29824795 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.976_978del (p.Leu326del) deletion Episodic kinesigenic dyskinesia [RCV003594461] Chr16:29814427..29814429 [GRCh38]
Chr16:29825748..29825750 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.922_923del (p.Arg308fs) deletion Episodic kinesigenic dyskinesia [RCV003594497] Chr16:29814374..29814375 [GRCh38]
Chr16:29825695..29825696 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.170C>T (p.Ala57Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594831] Chr16:29813224 [GRCh38]
Chr16:29824545 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.300C>T (p.Ser100=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003761007] Chr16:29813354 [GRCh38]
Chr16:29824675 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.55A>T (p.Lys19Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594584] Chr16:29813109 [GRCh38]
Chr16:29824430 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.475G>A (p.Glu159Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003761042] Chr16:29813529 [GRCh38]
Chr16:29824850 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.17C>T (p.Ser6Phe) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003761169] Chr16:29813071 [GRCh38]
Chr16:29824392 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.342G>T (p.Val114=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595297]|PRRT2-related condition [RCV003939085] Chr16:29813396 [GRCh38]
Chr16:29824717 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1013-3C>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594844] Chr16:29814625 [GRCh38]
Chr16:29825946 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.907G>C (p.Val303Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593478] Chr16:29814360 [GRCh38]
Chr16:29825681 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.807C>A (p.Ile269=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594729] Chr16:29813861 [GRCh38]
Chr16:29825182 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.951C>G (p.Ser317Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594955] Chr16:29814404 [GRCh38]
Chr16:29825725 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.361G>T (p.Asp121Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594963] Chr16:29813415 [GRCh38]
Chr16:29824736 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1004A>C (p.Asn335Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595001] Chr16:29814457 [GRCh38]
Chr16:29825778 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.976del (p.Leu326fs) deletion Episodic kinesigenic dyskinesia [RCV003593651] Chr16:29814428 [GRCh38]
Chr16:29825749 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.466C>T (p.Leu156Phe) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593655] Chr16:29813520 [GRCh38]
Chr16:29824841 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.638G>T (p.Gly213Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003834303] Chr16:29813692 [GRCh38]
Chr16:29825013 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.772G>A (p.Gly258Arg) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595363] Chr16:29813826 [GRCh38]
Chr16:29825147 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.924T>A (p.Arg308=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594498] Chr16:29814377 [GRCh38]
Chr16:29825698 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.936_965del (p.Ala313_Val322del) deletion Episodic kinesigenic dyskinesia [RCV003761163] Chr16:29814386..29814415 [GRCh38]
Chr16:29825707..29825736 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.310C>T (p.Pro104Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003814331] Chr16:29813364 [GRCh38]
Chr16:29824685 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.483_487dup (p.Gln163fs) duplication Episodic kinesigenic dyskinesia [RCV003594931] Chr16:29813533..29813534 [GRCh38]
Chr16:29824854..29824855 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.567T>A (p.Ala189=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593832] Chr16:29813621 [GRCh38]
Chr16:29824942 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.434G>T (p.Arg145Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593406] Chr16:29813488 [GRCh38]
Chr16:29824809 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1012+15G>A single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595576] Chr16:29814480 [GRCh38]
Chr16:29825801 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.382T>A (p.Ser128Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594522] Chr16:29813436 [GRCh38]
Chr16:29824757 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.418C>A (p.Pro140Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593789] Chr16:29813472 [GRCh38]
Chr16:29824793 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.715C>T (p.Pro239Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003593383] Chr16:29813769 [GRCh38]
Chr16:29825090 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.854T>C (p.Ile285Thr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003594816] Chr16:29813908 [GRCh38]
Chr16:29825229 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.1013-17C>T single nucleotide variant Episodic kinesigenic dyskinesia [RCV003595492] Chr16:29814611 [GRCh38]
Chr16:29825932 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.905A>T (p.Asp302Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760892] Chr16:29814358 [GRCh38]
Chr16:29825679 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.713C>G (p.Ser238Cys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760088] Chr16:29813767 [GRCh38]
Chr16:29825088 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.765G>A (p.Gly255=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760129] Chr16:29813819 [GRCh38]
Chr16:29825140 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.645C>A (p.Pro215=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760339] Chr16:29813699 [GRCh38]
Chr16:29825020 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.810C>A (p.Ile270=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758650] Chr16:29813864 [GRCh38]
Chr16:29825185 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.991del (p.Ser331fs) deletion Episodic kinesigenic dyskinesia [RCV003760763] Chr16:29814444 [GRCh38]
Chr16:29825765 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.5C>A (p.Ala2Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758285] Chr16:29813059 [GRCh38]
Chr16:29824380 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.640dup (p.Ala214fs) duplication Episodic kinesigenic dyskinesia [RCV003758505] Chr16:29813690..29813691 [GRCh38]
Chr16:29825011..29825012 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.347_348del (p.Lys116fs) deletion Episodic kinesigenic dyskinesia [RCV003758589] Chr16:29813400..29813401 [GRCh38]
Chr16:29824721..29824722 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.1012+2T>G single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758630] Chr16:29814467 [GRCh38]
Chr16:29825788 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.105C>T (p.Pro35=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758421] Chr16:29813159 [GRCh38]
Chr16:29824480 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.741C>G (p.Pro247=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760469] Chr16:29813795 [GRCh38]
Chr16:29825116 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.102T>C (p.Pro34=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758432] Chr16:29813156 [GRCh38]
Chr16:29824477 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.251C>A (p.Ala84Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758633] Chr16:29813305 [GRCh38]
Chr16:29824626 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.819C>T (p.Ile273=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760688] Chr16:29813873 [GRCh38]
Chr16:29825194 [GRCh37]
Chr16:16p11.2		 likely benign
GRCh38/hg38 16p11.2(chr16:29642391-30204353) copy number loss Epilepsy syndrome [RCV003986077] Chr16:29642391..30204353 [GRCh38]
Chr16:16p11.2		 pathogenic|low penetrance
NM_145239.3(PRRT2):c.38G>A (p.Gly13Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759542] Chr16:29813092 [GRCh38]
Chr16:29824413 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.759T>C (p.Gly253=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003869954] Chr16:29813813 [GRCh38]
Chr16:29825134 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.411G>A (p.Glu137=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003844382] Chr16:29813465 [GRCh38]
Chr16:29824786 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1012+2T>C single nucleotide variant Episodic kinesigenic dyskinesia [RCV003842978] Chr16:29814467 [GRCh38]
Chr16:29825788 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.866C>A (p.Ala289Asp) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758219] Chr16:29813920 [GRCh38]
Chr16:29825241 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.29A>T (p.Glu10Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760093] Chr16:29813083 [GRCh38]
Chr16:29824404 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.886A>T (p.Asn296Tyr) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003843106] Chr16:29814339 [GRCh38]
Chr16:29825660 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.198G>C (p.Gly66=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760464] Chr16:29813252 [GRCh38]
Chr16:29824573 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.124C>T (p.Pro42Ser) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003853174] Chr16:29813178 [GRCh38]
Chr16:29824499 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.185G>T (p.Gly62Val) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758221] Chr16:29813239 [GRCh38]
Chr16:29824560 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.916_924del (p.Ala306_Arg308del) deletion Episodic kinesigenic dyskinesia [RCV003758673] Chr16:29814369..29814377 [GRCh38]
Chr16:29825690..29825698 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.275G>A (p.Gly92Glu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760446] Chr16:29813329 [GRCh38]
Chr16:29824650 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.106C>A (p.Gln36Lys) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003760459] Chr16:29813160 [GRCh38]
Chr16:29824481 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.101C>T (p.Pro34Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003758619] Chr16:29813155 [GRCh38]
Chr16:29824476 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.761C>T (p.Pro254Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759584] Chr16:29813815 [GRCh38]
Chr16:29825136 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.547dup (p.Ala183fs) duplication Episodic kinesigenic dyskinesia [RCV003760900] Chr16:29813597..29813598 [GRCh38]
Chr16:29824918..29824919 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.469C>T (p.Gln157Ter) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759234] Chr16:29813523 [GRCh38]
Chr16:29824844 [GRCh37]
Chr16:16p11.2		 pathogenic
NM_145239.3(PRRT2):c.74C>T (p.Pro25Leu) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759213] Chr16:29813128 [GRCh38]
Chr16:29824449 [GRCh37]
Chr16:16p11.2		 uncertain significance
NM_145239.3(PRRT2):c.549A>T (p.Ala183=) single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759405] Chr16:29813603 [GRCh38]
Chr16:29824924 [GRCh37]
Chr16:16p11.2		 likely benign
NM_145239.3(PRRT2):c.1012+11G>C single nucleotide variant Episodic kinesigenic dyskinesia [RCV003759963] Chr16:29814476 [GRCh38]
Chr16:29825797 [GRCh37]
Chr16:16p11.2		 likely benign

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_186424
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381629,808,644 - 29,820,367 (-)NCBI
T2T-CHM13v2.01630,090,810 - 30,102,527 (-)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC MVP-DT COSMIC
Ensembl Genes ENSG00000238045 Ensembl
GTEx ENSG00000238045 GTEx
HGNC ID HGNC:56029 ENTREZGENE
Human Proteome Map MVP-DT Human Proteome Map
NCBI Gene LOC112268170 ENTREZGENE
RNAcentral URS00026A1BDD RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-29 MVP-DT  MVP divergent transcript  MVP-DT  MVP divergent transcript  Data merged from RGD:150573746 737654 PROVISIONAL
2023-06-26 MVP-DT  MVP divergent transcript  LOC112268170  translation initiation factor IF-2  Symbol and/or name change 19259463 PROVISIONAL
2023-03-29 LOC112268170  translation initiation factor IF-2  LOC112268170  translation initiation factor IF-2-like  Symbol and/or name change 5135510 APPROVED
2022-04-12 LOC112268170  translation initiation factor IF-2-like  LOC112268170  uncharacterized LOC112268170  Symbol and/or name change 5135510 APPROVED