GTF3C2-AS2 (GTF3C2 antisense RNA 2) - Rat Genome Database

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Gene: GTF3C2-AS2 (GTF3C2 antisense RNA 2) Homo sapiens
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Symbol: GTF3C2-AS2
Name: GTF3C2 antisense RNA 2
RGD ID: 38669658
HGNC Page HGNC:55699
Description: ASSOCIATED WITH genetic disease; Leukoencephalopathies; leukoencephalopathy with vanishing white matter
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC105374363; uncharacterized LOC105374363
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38227,356,765 - 27,367,880 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl227,356,246 - 27,367,881 (+)EnsemblGRCh38hg38GRCh38
GRCh37227,579,632 - 27,590,747 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2p23.3NCBI
CHM1_1227,509,058 - 27,511,476 (+)NCBICHM1_1
T2T-CHM13v2.0227,399,148 - 27,410,277 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:14702039  


Genomics

Variants

.
Variants in GTF3C2-AS2
218 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001034116.2(EIF2B4):c.1014-7A>G single nucleotide variant Vanishing white matter disease [RCV000296534]|not provided [RCV000711605]|not specified [RCV000081778] Chr2:27366943 [GRCh38]
Chr2:27589810 [GRCh37]
Chr2:2p23.3		 benign
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2		 pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
NM_001034116.2(EIF2B4):c.1457A>G (p.Asn486Ser) single nucleotide variant not provided [RCV003126360] Chr2:27364515 [GRCh38]
Chr2:27587382 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.828C>T (p.Ala276=) single nucleotide variant not provided [RCV003666180] Chr2:27367514 [GRCh38]
Chr2:27590381 [GRCh37]
Chr2:2p23.3		 likely benign
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2		 pathogenic
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_001034116.2(EIF2B4):c.1448G>A (p.Arg483Gln) single nucleotide variant not provided [RCV002048885] Chr2:27364524 [GRCh38]
Chr2:27587391 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.916C>G (p.Arg306Gly) single nucleotide variant Vanishing white matter disease [RCV000288347]|not provided [RCV000711604]|not specified [RCV000116972] Chr2:27367171 [GRCh38]
Chr2:27590038 [GRCh37]
Chr2:2p23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001034116.2(EIF2B4):c.1233C>T (p.Asn411=) single nucleotide variant Vanishing white matter disease [RCV001139872]|not provided [RCV001519223]|not specified [RCV000081779] Chr2:27364857 [GRCh38]
Chr2:27587724 [GRCh37]
Chr2:2p23.3		 benign
NM_001034116.2(EIF2B4):c.1136C>T (p.Ala379Val) single nucleotide variant Vanishing white matter disease [RCV000386106] Chr2:27366814 [GRCh38]
Chr2:27589681 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.938T>C (p.Val313Ala) single nucleotide variant EIF2B4-related disorder [RCV003922449]|Vanishing white matter disease [RCV000407563]|not provided [RCV000883611] Chr2:27367149 [GRCh38]
Chr2:27590016 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_001034116.2(EIF2B4):c.1365T>A (p.Asn455Lys) single nucleotide variant not provided [RCV000722988] Chr2:27364725 [GRCh38]
Chr2:27587592 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1191+2T>C single nucleotide variant not provided [RCV000722229] Chr2:27366757 [GRCh38]
Chr2:27589624 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_001034116.2(EIF2B4):c.1416G>A (p.Ala472=) single nucleotide variant not provided [RCV000905344] Chr2:27364556 [GRCh38]
Chr2:27587423 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV005025428]|Vanishing white matter disease [RCV000765662]|not provided [RCV000339634] Chr2:27364573 [GRCh38]
Chr2:27587440 [GRCh37]
Chr2:2p23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001034116.2(EIF2B4):c.1383T>C (p.Asp461=) single nucleotide variant Vanishing white matter disease [RCV000316266]|not provided [RCV002519964] Chr2:27364589 [GRCh38]
Chr2:27587456 [GRCh37]
Chr2:2p23.3		 benign|uncertain significance
NM_001034116.2(EIF2B4):c.1098G>T (p.Trp366Cys) single nucleotide variant not provided [RCV002003165] Chr2:27366852 [GRCh38]
Chr2:27589719 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.961C>T (p.Arg321Cys) single nucleotide variant Inborn genetic diseases [RCV002523130]|Vanishing white matter disease [RCV000351370]|not provided [RCV002263608] Chr2:27367126 [GRCh38]
Chr2:27589993 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1192-158del deletion not provided [RCV001616986] Chr2:27365056 [GRCh38]
Chr2:27587923 [GRCh37]
Chr2:2p23.3		 benign
NM_001034116.2(EIF2B4):c.904G>A (p.Ala302Thr) single nucleotide variant not provided [RCV003238545] Chr2:27367183 [GRCh38]
Chr2:27590050 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.726A>G (p.Thr242=) single nucleotide variant not provided [RCV002034127] Chr2:27367802 [GRCh38]
Chr2:27590669 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.728C>T (p.Pro243Leu) single nucleotide variant Leukoencephalopathy with vanishing white matter 1 [RCV004787777]|Leukoencephalopathy with vanishing white matter 4 [RCV003492070]|Vanishing white matter disease [RCV001782965]|not provided [RCV000482195] Chr2:27367800 [GRCh38]
Chr2:27590667 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_001034116.2(EIF2B4):c.866G>T (p.Ser289Ile) single nucleotide variant Vanishing white matter disease [RCV001281377] Chr2:27367476 [GRCh38]
Chr2:27590343 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_001034116.2(EIF2B4):c.724A>G (p.Thr242Ala) single nucleotide variant Vanishing white matter disease [RCV000401908] Chr2:27367804 [GRCh38]
Chr2:27590671 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1192-20C>A single nucleotide variant not provided [RCV002146273] Chr2:27364918 [GRCh38]
Chr2:27587785 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1218T>C (p.His406=) single nucleotide variant not provided [RCV002125195] Chr2:27364872 [GRCh38]
Chr2:27587739 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln) single nucleotide variant Vanishing white matter disease [RCV001139871]|not provided [RCV001856793]|not specified [RCV003323799] Chr2:27364572 [GRCh38]
Chr2:27587439 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_001034116.2(EIF2B4):c.1339G>A (p.Val447Met) single nucleotide variant not provided [RCV001919219] Chr2:27364751 [GRCh38]
Chr2:27587618 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1201G>A (p.Val401Met) single nucleotide variant not provided [RCV001889651] Chr2:27364889 [GRCh38]
Chr2:27587756 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1191+13G>A single nucleotide variant Vanishing white matter disease [RCV001139873]|not provided [RCV002070663] Chr2:27366746 [GRCh38]
Chr2:27589613 [GRCh37]
Chr2:2p23.3		 likely benign|uncertain significance
NM_001034116.2(EIF2B4):c.1191+81_1191+82insAA insertion not provided [RCV001679525] Chr2:27366677..27366678 [GRCh38]
Chr2:27589544..27589545 [GRCh37]
Chr2:2p23.3		 benign
NM_001034116.2(EIF2B4):c.1249C>T (p.Arg417Trp) single nucleotide variant not provided [RCV001923523] Chr2:27364841 [GRCh38]
Chr2:27587708 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.729G>A (p.Pro243=) single nucleotide variant Vanishing white matter disease [RCV001142529]|not provided [RCV001519623]|not specified [RCV000116971] Chr2:27367799 [GRCh38]
Chr2:27367799..27367800 [GRCh38]
Chr2:27590666 [GRCh37]
Chr2:27590666..27590667 [GRCh37]
Chr2:2p23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001034116.2(EIF2B4):c.1551A>C (p.Arg517=) single nucleotide variant not provided [RCV001958842] Chr2:27364421 [GRCh38]
Chr2:27587288 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.826G>A (p.Ala276Thr) single nucleotide variant not provided [RCV001904788] Chr2:27367516 [GRCh38]
Chr2:27590383 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1070G>A (p.Arg357Gln) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003221393]|Vanishing white matter disease [RCV000004333] Chr2:27366880 [GRCh38]
Chr2:27589747 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|uncertain significance
NM_001034116.2(EIF2B4):c.1191+1G>A single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003221395] Chr2:27366758 [GRCh38]
Chr2:27589625 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1438G>A (p.Ala480Thr) single nucleotide variant not provided [RCV001923186] Chr2:27364534 [GRCh38]
Chr2:27587401 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1322A>G (p.Tyr441Cys) single nucleotide variant not provided [RCV001909062]|not specified [RCV004770272] Chr2:27364768 [GRCh38]
Chr2:27587635 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1488T>C (p.Leu496=) single nucleotide variant Vanishing white matter disease [RCV001137649] Chr2:27364484 [GRCh38]
Chr2:27587351 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1143C>A (p.Val381=) single nucleotide variant not provided [RCV000936078] Chr2:27366807 [GRCh38]
Chr2:27589674 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.955A>G (p.Ile319Val) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003448918]|not provided [RCV002028917] Chr2:27367132 [GRCh38]
Chr2:27589999 [GRCh37]
Chr2:2p23.3		 pathogenic|uncertain significance
NM_001034116.2(EIF2B4):c.825C>A (p.Asn275Lys) single nucleotide variant not provided [RCV002029560] Chr2:27367517 [GRCh38]
Chr2:27590384 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.812C>T (p.Ala271Val) single nucleotide variant Vanishing white matter disease [RCV000348019] Chr2:27367530 [GRCh38]
Chr2:27590397 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.866G>A (p.Ser289Asn) single nucleotide variant Vanishing white matter disease [RCV001260956] Chr2:27367476 [GRCh38]
Chr2:27590343 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1392A>G (p.Gln464=) single nucleotide variant EIF2B4-related disorder [RCV003972420]|Vanishing white matter disease [RCV000261087]|not provided [RCV000958286]|not specified [RCV000516265] Chr2:27364580 [GRCh38]
Chr2:27587447 [GRCh37]
Chr2:2p23.3		 benign|likely benign|uncertain significance
NM_001034116.2(EIF2B4):c.*39C>T single nucleotide variant Vanishing white matter disease [RCV000320634] Chr2:27364361 [GRCh38]
Chr2:27587228 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.791C>A (p.Thr264Asn) single nucleotide variant Vanishing white matter disease [RCV001140652]|not provided [RCV002070685] Chr2:27367551 [GRCh38]
Chr2:27590418 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.880G>A (p.Glu294Lys) single nucleotide variant Inborn genetic diseases [RCV002562861]|not provided [RCV001955572] Chr2:27367462 [GRCh38]
Chr2:27590329 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1373-15C>T single nucleotide variant not provided [RCV002090104] Chr2:27364614 [GRCh38]
Chr2:27587481 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1372+13A>C single nucleotide variant Vanishing white matter disease [RCV000281030]|not provided [RCV001518917]|not specified [RCV000153194] Chr2:27364705 [GRCh38]
Chr2:27587572 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001034116.2(EIF2B4):c.930G>A (p.Glu310=) single nucleotide variant not provided [RCV002519893]|not specified [RCV000247737] Chr2:27367157 [GRCh38]
Chr2:27590024 [GRCh37]
Chr2:2p23.3		 benign|likely benign
NM_001034116.2(EIF2B4):c.783-17T>C single nucleotide variant not provided [RCV002073541] Chr2:27367576 [GRCh38]
Chr2:27590443 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.902G>A (p.Arg301Gln) single nucleotide variant not provided [RCV002003043] Chr2:27367185 [GRCh38]
Chr2:27590052 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1310G>T (p.Cys437Phe) single nucleotide variant Vanishing white matter disease [RCV000331589]|not provided [RCV002519965] Chr2:27364780 [GRCh38]
Chr2:27587647 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1465T>C (p.Tyr489His) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003221398]|Vanishing white matter disease [RCV004585985] Chr2:27364507 [GRCh38]
Chr2:27587374 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic
NM_001034116.2(EIF2B4):c.*1C>T single nucleotide variant EIF2B4-related disorder [RCV003972419]|Vanishing white matter disease [RCV000361335]|not provided [RCV004708587] Chr2:27364399 [GRCh38]
Chr2:27587266 [GRCh37]
Chr2:2p23.3		 benign|uncertain significance
NM_001034116.2(EIF2B4):c.783-18A>G single nucleotide variant not provided [RCV002213726] Chr2:27367577 [GRCh38]
Chr2:27590444 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1373-4G>A single nucleotide variant Vanishing white matter disease [RCV000375500] Chr2:27364603 [GRCh38]
Chr2:27587470 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1505C>T (p.Thr502Met) single nucleotide variant Vanishing white matter disease [RCV000778612]|not provided [RCV004588240] Chr2:27364467 [GRCh38]
Chr2:27587334 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_001034116.2(EIF2B4):c.1303C>T (p.Leu435=) single nucleotide variant not provided [RCV000980537] Chr2:27364787 [GRCh38]
Chr2:27587654 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+26C>A single nucleotide variant not specified [RCV000252394] Chr2:27367720 [GRCh38]
Chr2:27590587 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1120C>T (p.Arg374Cys) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003221394]|not provided [RCV001650827] Chr2:27366830 [GRCh38]
Chr2:27589697 [GRCh37]
Chr2:2p23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001034116.2(EIF2B4):c.1393T>C (p.Cys465Arg) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003221397] Chr2:27364579 [GRCh38]
Chr2:27587446 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.885+8G>C single nucleotide variant not provided [RCV002108306] Chr2:27367449 [GRCh38]
Chr2:27590316 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1052C>T (p.Thr351Ile) single nucleotide variant Inborn genetic diseases [RCV004617011]|not provided [RCV002214141] Chr2:27366898 [GRCh38]
Chr2:27589765 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1014-12C>A single nucleotide variant not provided [RCV002153126] Chr2:27366948 [GRCh38]
Chr2:27589815 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1014-20del deletion not provided [RCV002150822] Chr2:27366956 [GRCh38]
Chr2:27589823 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1192-16T>C single nucleotide variant not provided [RCV002131569] Chr2:27364914 [GRCh38]
Chr2:27587781 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1129G>C (p.Val377Leu) single nucleotide variant Vanishing white matter disease [RCV001140651] Chr2:27366821 [GRCh38]
Chr2:27589688 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1155C>T (p.Tyr385=) single nucleotide variant not provided [RCV002108967] Chr2:27366795 [GRCh38]
Chr2:27589662 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1470T>C (p.Asp490=) single nucleotide variant not provided [RCV002157497] Chr2:27364502 [GRCh38]
Chr2:27587369 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1013+8C>T single nucleotide variant not provided [RCV002123924] Chr2:27367066 [GRCh38]
Chr2:27589933 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1014-8_1014-7inv inversion not provided [RCV002203811] Chr2:27366943..27366944 [GRCh38]
Chr2:27589810..27589811 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1017A>G (p.Ser339=) single nucleotide variant not provided [RCV002120736] Chr2:27366933 [GRCh38]
Chr2:27589800 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.891G>A (p.Lys297=) single nucleotide variant not provided [RCV002102988] Chr2:27367196 [GRCh38]
Chr2:27590063 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1346C>T (p.Thr449Ile) single nucleotide variant not specified [RCV002266483] Chr2:27364744 [GRCh38]
Chr2:27587611 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter) single nucleotide variant not provided [RCV003774933]|not specified [RCV002283414] Chr2:27364405 [GRCh38]
Chr2:27587272 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1291A>G (p.Asn431Asp) single nucleotide variant Vanishing white matter disease [RCV002466845] Chr2:27364799 [GRCh38]
Chr2:27587666 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1480C>T (p.Pro494Ser) single nucleotide variant not provided [RCV002301242] Chr2:27364492 [GRCh38]
Chr2:27587359 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1440A>G (p.Ala480=) single nucleotide variant not provided [RCV002971325] Chr2:27364532 [GRCh38]
Chr2:27587399 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1180G>A (p.Val394Met) single nucleotide variant not provided [RCV002882317] Chr2:27366770 [GRCh38]
Chr2:27589637 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.806del (p.Leu269fs) deletion not provided [RCV003032943] Chr2:27367536 [GRCh38]
Chr2:27590403 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1412T>A (p.Val471Asp) single nucleotide variant not provided [RCV002775156] Chr2:27364560 [GRCh38]
Chr2:27587427 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1145C>T (p.Pro382Leu) single nucleotide variant Inborn genetic diseases [RCV002794329] Chr2:27366805 [GRCh38]
Chr2:27589672 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1411G>T (p.Val471Phe) single nucleotide variant Inborn genetic diseases [RCV002782027]|Leukoencephalopathy with vanishing white matter 4 [RCV003492812] Chr2:27364561 [GRCh38]
Chr2:27587428 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1060C>T (p.Arg354Trp) single nucleotide variant Inborn genetic diseases [RCV004068908]|not provided [RCV002619206] Chr2:27366890 [GRCh38]
Chr2:27589757 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1236G>A (p.Gly412=) single nucleotide variant not provided [RCV002796234] Chr2:27364854 [GRCh38]
Chr2:27587721 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1415C>A (p.Ala472Glu) single nucleotide variant Inborn genetic diseases [RCV002797594] Chr2:27364557 [GRCh38]
Chr2:27587424 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1192-9G>A single nucleotide variant not provided [RCV002796663] Chr2:27364907 [GRCh38]
Chr2:27587774 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.829A>T (p.Ile277Phe) single nucleotide variant not provided [RCV002712031] Chr2:27367513 [GRCh38]
Chr2:27590380 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1462G>A (p.Val488Ile) single nucleotide variant Inborn genetic diseases [RCV002915719] Chr2:27364510 [GRCh38]
Chr2:27587377 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1191+17A>T single nucleotide variant not provided [RCV002594766] Chr2:27366742 [GRCh38]
Chr2:27589609 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1165C>G (p.Pro389Ala) single nucleotide variant Inborn genetic diseases [RCV002958137]|not provided [RCV002958136] Chr2:27366785 [GRCh38]
Chr2:27589652 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.902G>C (p.Arg301Pro) single nucleotide variant not provided [RCV003025949] Chr2:27367185 [GRCh38]
Chr2:27590052 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1298C>T (p.Pro433Leu) single nucleotide variant not provided [RCV002825760] Chr2:27364792 [GRCh38]
Chr2:27587659 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1561delinsTC (p.Ser521_Asp522insTer) indel not provided [RCV002894367] Chr2:27364411 [GRCh38]
Chr2:27587278 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1117C>T (p.Leu373=) single nucleotide variant not provided [RCV002829295] Chr2:27366833 [GRCh38]
Chr2:27589700 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.820C>T (p.His274Tyr) single nucleotide variant Inborn genetic diseases [RCV002826124] Chr2:27367522 [GRCh38]
Chr2:27590389 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1373-19G>A single nucleotide variant not provided [RCV002574924] Chr2:27364618 [GRCh38]
Chr2:27587485 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His) single nucleotide variant Vanishing white matter disease [RCV003485821]|not provided [RCV002651445] Chr2:27364753 [GRCh38]
Chr2:27587620 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_001034116.2(EIF2B4):c.1069C>T (p.Arg357Trp) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV005028320]|not provided [RCV002651446] Chr2:27366881 [GRCh38]
Chr2:27589748 [GRCh37]
Chr2:2p23.3		 likely pathogenic|uncertain significance
NM_001034116.2(EIF2B4):c.1061G>A (p.Arg354Gln) single nucleotide variant not provided [RCV002599631] Chr2:27366889 [GRCh38]
Chr2:27589756 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1204C>T (p.Leu402=) single nucleotide variant not provided [RCV002746105] Chr2:27364886 [GRCh38]
Chr2:27587753 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-3T>C single nucleotide variant not provided [RCV003088958] Chr2:27367825 [GRCh38]
Chr2:27590692 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1072G>T (p.Val358Leu) single nucleotide variant not provided [RCV002720399] Chr2:27366878 [GRCh38]
Chr2:27589745 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1311C>T (p.Cys437=) single nucleotide variant not provided [RCV003052546] Chr2:27364779 [GRCh38]
Chr2:27587646 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.972C>T (p.Tyr324=) single nucleotide variant not provided [RCV002586109] Chr2:27367115 [GRCh38]
Chr2:27589982 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1506G>A (p.Thr502=) single nucleotide variant not provided [RCV003067399] Chr2:27364466 [GRCh38]
Chr2:27587333 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.805_806del (p.Leu269fs) deletion not provided [RCV002607406] Chr2:27367536..27367537 [GRCh38]
Chr2:27590403..27590404 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1373-18G>A single nucleotide variant not provided [RCV003852785] Chr2:27364617 [GRCh38]
Chr2:27587484 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1564G>A (p.Asp522Asn) single nucleotide variant Inborn genetic diseases [RCV003195728] Chr2:27364408 [GRCh38]
Chr2:27587275 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1447C>T (p.Arg483Trp) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003448660] Chr2:27364525 [GRCh38]
Chr2:27587392 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1172C>A (p.Ala391Asp) single nucleotide variant Leukoencephalopathy with vanishing white matter 4 [RCV003448661] Chr2:27366778 [GRCh38]
Chr2:27589645 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.940C>T (p.Leu314=) single nucleotide variant not provided [RCV003571192] Chr2:27367147 [GRCh38]
Chr2:27590014 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1021C>T (p.Leu341=) single nucleotide variant not provided [RCV003873082] Chr2:27366929 [GRCh38]
Chr2:27589796 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1095A>G (p.Pro365=) single nucleotide variant not provided [RCV003873135] Chr2:27366855 [GRCh38]
Chr2:27589722 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1331_1344del (p.Cys444fs) deletion not provided [RCV003543179] Chr2:27364746..27364759 [GRCh38]
Chr2:27587613..27587626 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1192-14C>T single nucleotide variant not provided [RCV003686388] Chr2:27364912 [GRCh38]
Chr2:27587779 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1374T>C (p.Asp458=) single nucleotide variant not provided [RCV003570218] Chr2:27364598 [GRCh38]
Chr2:27587465 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1476T>G (p.Thr492=) single nucleotide variant not provided [RCV003570779] Chr2:27364496 [GRCh38]
Chr2:27587363 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.886-11A>G single nucleotide variant not provided [RCV003714493] Chr2:27367212 [GRCh38]
Chr2:27590079 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.783-12G>A single nucleotide variant not provided [RCV003577157] Chr2:27367571 [GRCh38]
Chr2:27590438 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1192-19C>T single nucleotide variant not provided [RCV003659834] Chr2:27364917 [GRCh38]
Chr2:27587784 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1536A>G (p.Val512=) single nucleotide variant not provided [RCV003696135] Chr2:27364436 [GRCh38]
Chr2:27587303 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1035T>C (p.Ile345=) single nucleotide variant not provided [RCV003694418] Chr2:27366915 [GRCh38]
Chr2:27589782 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.783-7A>G single nucleotide variant not provided [RCV003739865] Chr2:27367566 [GRCh38]
Chr2:27590433 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-10dup duplication not provided [RCV003694327] Chr2:27367831..27367832 [GRCh38]
Chr2:27590698..27590699 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1372+9G>A single nucleotide variant not provided [RCV003578295] Chr2:27364709 [GRCh38]
Chr2:27587576 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1372+19A>G single nucleotide variant not provided [RCV003574419] Chr2:27364699 [GRCh38]
Chr2:27587566 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1030C>T (p.Arg344Ter) single nucleotide variant not provided [RCV003716363] Chr2:27366920 [GRCh38]
Chr2:27589787 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.706-8C>T single nucleotide variant not provided [RCV003714771] Chr2:27367830 [GRCh38]
Chr2:27590697 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1008T>C (p.Tyr336=) single nucleotide variant not provided [RCV003661248] Chr2:27367079 [GRCh38]
Chr2:27589946 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1146A>G (p.Pro382=) single nucleotide variant not provided [RCV003687510] Chr2:27366804 [GRCh38]
Chr2:27589671 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1257G>A (p.Gly419=) single nucleotide variant not provided [RCV003715846] Chr2:27364833 [GRCh38]
Chr2:27587700 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1459C>T (p.Leu487=) single nucleotide variant not provided [RCV003713763] Chr2:27364513 [GRCh38]
Chr2:27587380 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1389G>A (p.Leu463=) single nucleotide variant not provided [RCV003577881] Chr2:27364583 [GRCh38]
Chr2:27587450 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1013+13C>T single nucleotide variant not provided [RCV003880324] Chr2:27367061 [GRCh38]
Chr2:27589928 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.951G>A (p.Gln317=) single nucleotide variant not provided [RCV003877928] Chr2:27367136 [GRCh38]
Chr2:27590003 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+12A>G single nucleotide variant not provided [RCV003688749] Chr2:27367734 [GRCh38]
Chr2:27590601 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1373-7A>T single nucleotide variant not provided [RCV003715342] Chr2:27364606 [GRCh38]
Chr2:27587473 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1221A>G (p.Ala407=) single nucleotide variant not provided [RCV003827897] Chr2:27364869 [GRCh38]
Chr2:27587736 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.752dup (p.Asp251fs) duplication not provided [RCV003825444] Chr2:27367775..27367776 [GRCh38]
Chr2:27590642..27590643 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.873G>A (p.Lys291=) single nucleotide variant not provided [RCV003699836] Chr2:27367469 [GRCh38]
Chr2:27590336 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.731C>T (p.Pro244Leu) single nucleotide variant Vanishing white matter disease [RCV004800766] Chr2:27367797 [GRCh38]
Chr2:27590664 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1373-14G>A single nucleotide variant not provided [RCV003811010] Chr2:27364613 [GRCh38]
Chr2:27587480 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1275G>A (p.Leu425=) single nucleotide variant not provided [RCV003814123] Chr2:27364815 [GRCh38]
Chr2:27587682 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1422T>C (p.Ala474=) single nucleotide variant not provided [RCV003717454] Chr2:27364550 [GRCh38]
Chr2:27587417 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.783-20G>A single nucleotide variant not provided [RCV003723462] Chr2:27367579 [GRCh38]
Chr2:27590446 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1188A>G (p.Pro396=) single nucleotide variant not provided [RCV003851515] Chr2:27366762 [GRCh38]
Chr2:27589629 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1192-20C>T single nucleotide variant not provided [RCV003674314] Chr2:27364918 [GRCh38]
Chr2:27587785 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1293T>C (p.Asn431=) single nucleotide variant not provided [RCV003674414] Chr2:27364797 [GRCh38]
Chr2:27587664 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1305G>A (p.Leu435=) single nucleotide variant not provided [RCV003700728] Chr2:27364785 [GRCh38]
Chr2:27587652 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1373-14G>T single nucleotide variant not provided [RCV003700925] Chr2:27364613 [GRCh38]
Chr2:27587480 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+20T>C single nucleotide variant not provided [RCV003672754] Chr2:27367726 [GRCh38]
Chr2:27590593 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.787C>T (p.Leu263=) single nucleotide variant not provided [RCV003699207] Chr2:27367555 [GRCh38]
Chr2:27590422 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.885+14G>C single nucleotide variant not provided [RCV003673190] Chr2:27367443 [GRCh38]
Chr2:27590310 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+15A>T single nucleotide variant not provided [RCV003671751] Chr2:27367731 [GRCh38]
Chr2:27590598 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1191+19del deletion not provided [RCV003673219] Chr2:27366740 [GRCh38]
Chr2:27589607 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1014-12C>T single nucleotide variant not provided [RCV003667933] Chr2:27366948 [GRCh38]
Chr2:27589815 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1159C>T (p.Leu387=) single nucleotide variant not provided [RCV003701974] Chr2:27366791 [GRCh38]
Chr2:27589658 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.720C>T (p.Tyr240=) single nucleotide variant not provided [RCV003673728] Chr2:27367808 [GRCh38]
Chr2:27590675 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+18_782+30del deletion not provided [RCV003557707] Chr2:27367716..27367728 [GRCh38]
Chr2:27590583..27590595 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+19G>A single nucleotide variant not provided [RCV003668090] Chr2:27367727 [GRCh38]
Chr2:27590594 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.783-16T>C single nucleotide variant not provided [RCV003665389] Chr2:27367575 [GRCh38]
Chr2:27590442 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1207T>C (p.Leu403=) single nucleotide variant not provided [RCV003672998] Chr2:27364883 [GRCh38]
Chr2:27587750 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1173C>G (p.Ala391=) single nucleotide variant not provided [RCV003672986] Chr2:27366777 [GRCh38]
Chr2:27589644 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.768A>C (p.Leu256=) single nucleotide variant not provided [RCV003549667] Chr2:27367760 [GRCh38]
Chr2:27590627 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1192-12_1192-10del deletion not provided [RCV003835543] Chr2:27364908..27364910 [GRCh38]
Chr2:27587775..27587777 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.777C>T (p.Tyr259=) single nucleotide variant not provided [RCV003671423] Chr2:27367751 [GRCh38]
Chr2:27590618 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.947C>G (p.Ala316Gly) single nucleotide variant not provided [RCV003834034] Chr2:27367140 [GRCh38]
Chr2:27590007 [GRCh37]
Chr2:2p23.3		 benign
NM_001034116.2(EIF2B4):c.879A>G (p.Glu293=) single nucleotide variant not provided [RCV003666689] Chr2:27367463 [GRCh38]
Chr2:27590330 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1119A>G (p.Leu373=) single nucleotide variant not provided [RCV003675364] Chr2:27366831 [GRCh38]
Chr2:27589698 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1372+12A>G single nucleotide variant not provided [RCV003866168] Chr2:27364706 [GRCh38]
Chr2:27587573 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.868del (p.Ser290fs) deletion not provided [RCV003845885] Chr2:27367474 [GRCh38]
Chr2:27590341 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.1437C>T (p.His479=) single nucleotide variant not provided [RCV003860232] Chr2:27364535 [GRCh38]
Chr2:27587402 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.783-15G>A single nucleotide variant not provided [RCV003711318] Chr2:27367574 [GRCh38]
Chr2:27590441 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1372+10C>G single nucleotide variant not provided [RCV003856890] Chr2:27364708 [GRCh38]
Chr2:27587575 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.711T>C (p.Ile237=) single nucleotide variant not provided [RCV003541905] Chr2:27367817 [GRCh38]
Chr2:27590684 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.927A>G (p.Gln309=) single nucleotide variant not provided [RCV003706933] Chr2:27367160 [GRCh38]
Chr2:27590027 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1302G>T (p.Val434=) single nucleotide variant not provided [RCV003568577] Chr2:27364788 [GRCh38]
Chr2:27587655 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1014-17C>T single nucleotide variant not provided [RCV003680568] Chr2:27366953 [GRCh38]
Chr2:27589820 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-8C>A single nucleotide variant not provided [RCV003704786] Chr2:27367830 [GRCh38]
Chr2:27590697 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.798C>T (p.Cys266=) single nucleotide variant not provided [RCV003675560] Chr2:27367544 [GRCh38]
Chr2:27590411 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+7A>G single nucleotide variant not provided [RCV003682439] Chr2:27367739 [GRCh38]
Chr2:27590606 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.813G>A (p.Ala271=) single nucleotide variant not provided [RCV003868021] Chr2:27367529 [GRCh38]
Chr2:27590396 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1014-17dup duplication not provided [RCV003710434] Chr2:27366952..27366953 [GRCh38]
Chr2:27589819..27589820 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1191+20A>G single nucleotide variant not provided [RCV003721478] Chr2:27366739 [GRCh38]
Chr2:27589606 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1192-5A>C single nucleotide variant not provided [RCV003718657] Chr2:27364903 [GRCh38]
Chr2:27587770 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1491G>A (p.Val497=) single nucleotide variant not provided [RCV003722571] Chr2:27364481 [GRCh38]
Chr2:27587348 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-18_706-17insTGTGTAC insertion not provided [RCV003551764] Chr2:27367839..27367840 [GRCh38]
Chr2:27590706..27590707 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1566C>T (p.Asp522=) single nucleotide variant not provided [RCV003721517] Chr2:27364406 [GRCh38]
Chr2:27587273 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1398G>A (p.Lys466=) single nucleotide variant not provided [RCV003738600] Chr2:27364574 [GRCh38]
Chr2:27587441 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1533T>C (p.Ser511=) single nucleotide variant not provided [RCV003722197] Chr2:27364439 [GRCh38]
Chr2:27587306 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1060C>A (p.Arg354=) single nucleotide variant not provided [RCV003721940] Chr2:27366890 [GRCh38]
Chr2:27589757 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1013+1G>T single nucleotide variant not provided [RCV003683563] Chr2:27367073 [GRCh38]
Chr2:27589940 [GRCh37]
Chr2:2p23.3		 likely pathogenic
NM_001034116.2(EIF2B4):c.1191+20A>C single nucleotide variant not provided [RCV003683565] Chr2:27366739 [GRCh38]
Chr2:27589606 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.782+16_782+17del microsatellite not provided [RCV003567252] Chr2:27367729..27367730 [GRCh38]
Chr2:27590596..27590597 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-4A>T single nucleotide variant not provided [RCV003864124] Chr2:27367826 [GRCh38]
Chr2:27590693 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1206A>G (p.Leu402=) single nucleotide variant not provided [RCV003676809] Chr2:27364884 [GRCh38]
Chr2:27587751 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.804C>G (p.Pro268=) single nucleotide variant not provided [RCV003843087] Chr2:27367538 [GRCh38]
Chr2:27590405 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1152C>T (p.Ser384=) single nucleotide variant not provided [RCV003551188] Chr2:27366798 [GRCh38]
Chr2:27589665 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-16C>T single nucleotide variant not provided [RCV003707234] Chr2:27367838 [GRCh38]
Chr2:27590705 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1510C>T (p.Leu504=) single nucleotide variant not provided [RCV003681205] Chr2:27364462 [GRCh38]
Chr2:27587329 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.706-18A>T single nucleotide variant not provided [RCV003551765] Chr2:27367840 [GRCh38]
Chr2:27590707 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1192-12C>T single nucleotide variant not provided [RCV003864304] Chr2:27364910 [GRCh38]
Chr2:27587777 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1230C>T (p.Ala410=) single nucleotide variant not provided [RCV003550360] Chr2:27364860 [GRCh38]
Chr2:27587727 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1569G>A (p.Gln523=) single nucleotide variant not provided [RCV003706469] Chr2:27364403 [GRCh38]
Chr2:27587270 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1248A>G (p.Ser416=) single nucleotide variant not provided [RCV003674881] Chr2:27364842 [GRCh38]
Chr2:27587709 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1143C>T (p.Val381=) single nucleotide variant not provided [RCV003705464] Chr2:27366807 [GRCh38]
Chr2:27589674 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1116A>G (p.Thr372=) single nucleotide variant not provided [RCV003676049] Chr2:27366834 [GRCh38]
Chr2:27589701 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.825C>T (p.Asn275=) single nucleotide variant not provided [RCV003729973] Chr2:27367517 [GRCh38]
Chr2:27590384 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.969T>C (p.Ala323=) single nucleotide variant not provided [RCV003553559] Chr2:27367118 [GRCh38]
Chr2:27589985 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.1013+16T>C single nucleotide variant not provided [RCV003821153] Chr2:27367058 [GRCh38]
Chr2:27589925 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.887C>T (p.Ala296Val) single nucleotide variant not provided [RCV003676743] Chr2:27367200 [GRCh38]
Chr2:27590067 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1013+67_1169del deletion not provided [RCV003564083] Chr2:27366781..27367007 [GRCh38]
Chr2:27589648..27589874 [GRCh37]
Chr2:2p23.3		 pathogenic
NM_001034116.2(EIF2B4):c.905C>T (p.Ala302Val) single nucleotide variant EIF2B4-related disorder [RCV003962312]|Inborn genetic diseases [RCV004369883] Chr2:27367182 [GRCh38]
Chr2:27590049 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1173C>T (p.Ala391=) single nucleotide variant not provided [RCV003887494] Chr2:27366777 [GRCh38]
Chr2:27589644 [GRCh37]
Chr2:2p23.3		 likely benign
NM_001034116.2(EIF2B4):c.818T>C (p.Met273Thr) single nucleotide variant not specified [RCV004587688] Chr2:27367524 [GRCh38]
Chr2:27590391 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1088G>C (p.Ser363Thr) single nucleotide variant Inborn genetic diseases [RCV004622585] Chr2:27366862 [GRCh38]
Chr2:27589729 [GRCh37]
Chr2:2p23.3		 uncertain significance
NM_001034116.2(EIF2B4):c.1183C>T (p.Leu395Phe) single nucleotide variant Vanishing white matter disease [RCV004699843] Chr2:27366767 [GRCh38]
Chr2:27589634 [GRCh37]
Chr2:2p23.3		 likely pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597378665GWAS1474739_Halpha-hydroxybutyric acid measurement QTL GWAS1474739 (human)0.000002alpha-hydroxybutyric acid measurement22736179927361800Human
597521487GWAS1617561_Hbody fat percentage QTL GWAS1617561 (human)3e-08body fat mass (VT:0010482)body fat percentage (CMO:0000302)22736621227366213Human
597380369GWAS1476443_Hlactate measurement QTL GWAS1476443 (human)0.0000007blood lactate amount (VT:0010616)blood lactate level (CMO:0001303)22736179927361800Human
597504854GWAS1600928_Hdiabetes mellitus QTL GWAS1600928 (human)3e-08pancreas integrity trait (VT:0010560)22736179927361800Human
597511190GWAS1607264_HC-reactive protein measurement QTL GWAS1607264 (human)9e-12C-reactive protein measurementblood C-reactive protein level (CMO:0003160)22736779927367800Human
597424182GWAS1520256_Htriglyceride measurement QTL GWAS1520256 (human)6e-24triglyceride measurementblood triglyceride level (CMO:0000118)22736779927367800Human
406966879GWAS615855_Hserum IgG glycosylation measurement QTL GWAS615855 (human)0.000004serum IgG glycosylation measurement22736485727364858Human
597513666GWAS1609740_Hcomplex trait QTL GWAS1609740 (human)2e-12complex trait22735916827359169Human


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NR_183824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_183839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC074117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000412749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,357,151 - 27,367,881 (+)Ensembl
Ensembl Acc Id: ENST00000447070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,356,246 - 27,360,256 (+)Ensembl
Ensembl Acc Id: ENST00000453289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,357,140 - 27,358,190 (+)Ensembl
Ensembl Acc Id: ENST00000847761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl227,357,166 - 27,367,880 (+)Ensembl
RefSeq Acc Id: NR_183824
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,356,765 - 27,359,917 (+)NCBI
T2T-CHM13v2.0227,399,148 - 27,402,336 (+)NCBI
RefSeq Acc Id: NR_183825
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,356,765 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,148 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183826
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,356,765 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,148 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183827
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,356,765 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,148 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183828
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,356,765 - 27,365,884 (+)NCBI
T2T-CHM13v2.0227,399,148 - 27,408,292 (+)NCBI
RefSeq Acc Id: NR_183829
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,356,765 - 27,359,917 (+)NCBI
T2T-CHM13v2.0227,399,148 - 27,402,336 (+)NCBI
RefSeq Acc Id: NR_183830
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,359,917 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,402,336 (+)NCBI
RefSeq Acc Id: NR_183831
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183832
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,365,884 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,408,292 (+)NCBI
RefSeq Acc Id: NR_183833
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183834
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,359,917 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,402,336 (+)NCBI
RefSeq Acc Id: NR_183835
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183836
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,365,884 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,408,292 (+)NCBI
RefSeq Acc Id: NR_183837
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,359,917 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,402,336 (+)NCBI
RefSeq Acc Id: NR_183838
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,410,277 (+)NCBI
RefSeq Acc Id: NR_183839
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,357,140 - 27,367,880 (+)NCBI
T2T-CHM13v2.0227,399,523 - 27,410,277 (+)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC GTF3C2-AS2 COSMIC
Ensembl Genes ENSG00000234072 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000412749 ENTREZGENE
GTEx ENSG00000234072 GTEx
HGNC ID HGNC:55699 ENTREZGENE
Human Proteome Map GTF3C2-AS2 Human Proteome Map
NCBI Gene LOC105374363 ENTREZGENE
RNAcentral URS00026A1A23 RNACentral
  URS00026A1C62 RNACentral
  URS00026A1D8D RNACentral
  URS00026A1DA7 RNACentral
  URS00026A1E04 RNACentral
  URS00026A1E6C RNACentral
  URS00026A1F4C RNACentral
  URS00026A20EA RNACentral
  URS00026A2427 RNACentral
  URS00026A2499 RNACentral
  URS00026A24A6 RNACentral
  URS00026A24D0 RNACentral
  URS00026A2564 RNACentral
  URS00026A26DC RNACentral
  URS00026A270A RNACentral
  URS00026A2830 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-07-12 GTF3C2-AS2  GTF3C2 antisense RNA 2  LOC105374363  uncharacterized LOC105374363  Symbol and/or name change 19259463 PROVISIONAL