| GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 |
copy number gain |
See cases [RCV000050683] |
Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1 |
pathogenic |
| GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 |
copy number gain |
See cases [RCV000051771] |
Chr4:51831622..66991489 [GRCh38]
Chr4:52697788..67857207 [GRCh37]
Chr4:52392545..67539802 [NCBI36]
Chr4:4q12-13.2 |
pathogenic |
| GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 |
copy number gain |
See cases [RCV000051772] |
Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3 |
pathogenic |
| GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 |
copy number gain |
See cases [RCV000051773] |
Chr4:51899860..59984479 [GRCh38]
Chr4:52766026..60850197 [GRCh37]
Chr4:52460783..60532792 [NCBI36]
Chr4:4q12-13.1 |
pathogenic |
| GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 |
copy number loss |
See cases [RCV000053265] |
Chr4:52639018..59984479 [GRCh38]
Chr4:53505185..60850197 [GRCh37]
Chr4:53199942..60532792 [NCBI36]
Chr4:4q12-13.1 |
pathogenic |
| GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 |
copy number loss |
See cases [RCV000053266] |
Chr4:54198601..62270115 [GRCh38]
Chr4:55064768..63135833 [GRCh37]
Chr4:54759525..62818428 [NCBI36]
Chr4:4q12-13.1 |
pathogenic |
| NM_005612.4(REST):c.2254C>A (p.Pro752Thr) |
single nucleotide variant |
Malignant melanoma [RCV000066466] |
Chr4:56931112 [GRCh38]
Chr4:57797278 [GRCh37]
Chr4:57492035 [NCBI36]
Chr4:4q12 |
not provided |
| NM_005612.5(REST):c.2938G>A (p.Glu980Lys) |
single nucleotide variant |
not provided [RCV003682879] |
Chr4:56931796 [GRCh38]
Chr4:57797962 [GRCh37]
Chr4:57492719 [NCBI36]
Chr4:4q12 |
uncertain significance|not provided |
| NM_005612.4(REST):c.2957C>T (p.Ser986Phe) |
single nucleotide variant |
Malignant melanoma [RCV000061017] |
Chr4:56931815 [GRCh38]
Chr4:57797981 [GRCh37]
Chr4:57492738 [NCBI36]
Chr4:4q12 |
not provided |
| NM_005612.4(REST):c.2962A>C (p.Thr988Pro) |
single nucleotide variant |
Malignant melanoma [RCV000061018] |
Chr4:56931820 [GRCh38]
Chr4:57797986 [GRCh37]
Chr4:57492743 [NCBI36]
Chr4:4q12 |
not provided |
| NM_005612.5(REST):c.238G>A (p.Gly80Arg) |
single nucleotide variant |
Fibromatosis, gingival, 5 [RCV001294083] |
Chr4:56910876 [GRCh38]
Chr4:57777042 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3110C>A (p.Pro1037Gln) |
single nucleotide variant |
not provided [RCV001945043] |
Chr4:56931968 [GRCh38]
Chr4:57798134 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2533G>T (p.Val845Phe) |
single nucleotide variant |
not provided [RCV001348713] |
Chr4:56931391 [GRCh38]
Chr4:57797557 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1688G>T (p.Ser563Ile) |
single nucleotide variant |
not provided [RCV001348097] |
Chr4:56930546 [GRCh38]
Chr4:57796712 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh38/hg38 4q12(chr4:56248102-57218522)x4 |
copy number gain |
See cases [RCV000137649] |
Chr4:56248102..57218522 [GRCh38]
Chr4:57114268..58084688 [GRCh37]
Chr4:56809025..57779445 [NCBI36]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.965A>G (p.His322Arg) |
single nucleotide variant |
Wilms tumor 6 [RCV000207458] |
Chr4:56919853 [GRCh38]
Chr4:57786019 [GRCh37]
Chr4:4q12 |
risk factor |
| NM_005612.5(REST):c.831_832del (p.Cys278fs) |
deletion |
Wilms tumor 6 [RCV000207462]|not provided [RCV001230375] |
Chr4:56911469..56911470 [GRCh38]
Chr4:57777635..57777636 [GRCh37]
Chr4:4q12 |
pathogenic|risk factor |
| NM_005612.5(REST):c.773_776del (p.Val258fs) |
deletion |
Wilms tumor 6 [RCV000207468] |
Chr4:56911409..56911412 [GRCh38]
Chr4:57777575..57777578 [GRCh37]
Chr4:4q12 |
pathogenic|risk factor |
| GRCh37/hg19 4q12(chr4:57759221-57795328)x3 |
copy number gain |
Premature ovarian failure [RCV000225294] |
Chr4:57759221..57795328 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2048C>A (p.Ala683Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003266590] |
Chr4:56930906 [GRCh38]
Chr4:57797072 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2771_2793dup (p.Glu932delinsLysThrTer) |
duplication |
Fibromatosis, gingival, 5 [RCV001549285] |
Chr4:56931628..56931629 [GRCh38]
Chr4:57797794..57797795 [GRCh37]
Chr4:4q12 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_005612.5(REST):c.2865_2866del (p.Asn958fs) |
deletion |
Fibromatosis, gingival, 1 [RCV000516014]|Fibromatosis, gingival, 5 [RCV000497680]|not provided [RCV001851328] |
Chr4:56931723..56931724 [GRCh38]
Chr4:57797889..57797890 [GRCh37]
Chr4:4q12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_005612.5(REST):c.1310T>A (p.Leu437Ter) |
single nucleotide variant |
Fibromatosis, gingival, 1 [RCV000516150]|Fibromatosis, gingival, 5 [RCV000498225] |
Chr4:56930168 [GRCh38]
Chr4:57796334 [GRCh37]
Chr4:4q12 |
pathogenic|likely pathogenic |
| NM_005612.5(REST):c.2413del (p.Leu805fs) |
deletion |
Fibromatosis, gingival, 1 [RCV000515908]|Fibromatosis, gingival, 5 [RCV000498949] |
Chr4:56931268 [GRCh38]
Chr4:57797434 [GRCh37]
Chr4:4q12 |
pathogenic|likely pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 |
copy number gain |
See cases [RCV000511193] |
Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1 |
pathogenic |
| NM_005612.5(REST):c.2104G>T (p.Gly702Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003288192] |
Chr4:56930962 [GRCh38]
Chr4:57797128 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2515G>T (p.Glu839Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624224] |
Chr4:56931373 [GRCh38]
Chr4:57797539 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_005612.5(REST):c.2464del (p.Glu822fs) |
deletion |
not provided [RCV000677291] |
Chr4:56931321 [GRCh38]
Chr4:57797487 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2 |
pathogenic |
| NM_005612.5(REST):c.2449C>T (p.Arg817Ter) |
single nucleotide variant |
Fibromatosis, gingival, 5 [RCV001549284] |
Chr4:56931307 [GRCh38]
Chr4:57797473 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.*151A>G |
single nucleotide variant |
not provided [RCV001534896] |
Chr4:56932303 [GRCh38]
Chr4:57798469 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2227G>T (p.Glu743Ter) |
single nucleotide variant |
not provided [RCV000760805] |
Chr4:56931085 [GRCh38]
Chr4:57797251 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.595A>G (p.Arg199Gly) |
single nucleotide variant |
not provided [RCV001053987] |
Chr4:56911233 [GRCh38]
Chr4:57777399 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.983-2247C>G |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 27 [RCV000855719] |
Chr4:56927594 [GRCh38]
Chr4:57793760 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.1101T>C (p.Asp367=) |
single nucleotide variant |
not provided [RCV000923893] |
Chr4:56929959 [GRCh38]
Chr4:57796125 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1974G>A (p.Gln658=) |
single nucleotide variant |
not provided [RCV000970927] |
Chr4:56930832 [GRCh38]
Chr4:57796998 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2229_2276del (p.Gln746_Val761del) |
deletion |
not provided [RCV000949906] |
Chr4:56931052..56931099 [GRCh38]
Chr4:57797218..57797265 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1996C>T (p.Leu666=) |
single nucleotide variant |
not provided [RCV000958930] |
Chr4:56930854 [GRCh38]
Chr4:57797020 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2556G>A (p.Lys852=) |
single nucleotide variant |
not provided [RCV000968576] |
Chr4:56931414 [GRCh38]
Chr4:57797580 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.2557G>C (p.Glu853Gln) |
single nucleotide variant |
REST-related disorder [RCV003940457]|not provided [RCV000882604] |
Chr4:56931415 [GRCh38]
Chr4:57797581 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1146A>G (p.Leu382=) |
single nucleotide variant |
not provided [RCV000921273] |
Chr4:56930004 [GRCh38]
Chr4:57796170 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2855A>G (p.Asp952Gly) |
single nucleotide variant |
not provided [RCV000923812] |
Chr4:56931713 [GRCh38]
Chr4:57797879 [GRCh37]
Chr4:4q12 |
likely benign|conflicting interpretations of pathogenicity |
| NM_005612.5(REST):c.2248T>A (p.Ser750Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002540995]|REST-related disorder [RCV003960408]|not provided [RCV000922186] |
Chr4:56931106 [GRCh38]
Chr4:57797272 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.2229G>A (p.Glu743=) |
single nucleotide variant |
not provided [RCV000971702] |
Chr4:56931087 [GRCh38]
Chr4:57797253 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.1520G>A (p.Gly507Glu) |
single nucleotide variant |
not provided [RCV001050392] |
Chr4:56930378 [GRCh38]
Chr4:57796544 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2491G>T (p.Ala831Ser) |
single nucleotide variant |
not provided [RCV001037851] |
Chr4:56931349 [GRCh38]
Chr4:57797515 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.422C>G (p.Pro141Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002553235]|REST-related disorder [RCV003396666]|not provided [RCV001050838] |
Chr4:56911060 [GRCh38]
Chr4:57777226 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2055G>A (p.Met685Ile) |
single nucleotide variant |
not provided [RCV001040286] |
Chr4:56930913 [GRCh38]
Chr4:57797079 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1933C>T (p.Arg645Trp) |
single nucleotide variant |
not provided [RCV001045626] |
Chr4:56930791 [GRCh38]
Chr4:57796957 [GRCh37]
Chr4:4q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005612.5(REST):c.2263G>T (p.Val755Leu) |
single nucleotide variant |
not provided [RCV003312606] |
Chr4:56931121 [GRCh38]
Chr4:57797287 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2770C>T (p.Gln924Ter) |
single nucleotide variant |
Fibromatosis, gingival, 5 [RCV000995854] |
Chr4:56931628 [GRCh38]
Chr4:57797794 [GRCh37]
Chr4:4q12 |
likely pathogenic |
| NM_005612.5(REST):c.367C>G (p.Pro123Ala) |
single nucleotide variant |
REST-related disorder [RCV003920622]|not provided [RCV000884953] |
Chr4:56911005 [GRCh38]
Chr4:57777171 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.2341T>C (p.Leu781=) |
single nucleotide variant |
not provided [RCV000942479] |
Chr4:56931199 [GRCh38]
Chr4:57797365 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1453G>A (p.Val485Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003362997]|REST-related disorder [RCV003950455]|not provided [RCV000895645] |
Chr4:56930311 [GRCh38]
Chr4:57796477 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2206C>T (p.Pro736Ser) |
single nucleotide variant |
REST-related disorder [RCV003913259]|not provided [RCV000948680]|not specified [RCV001354442] |
Chr4:56931064 [GRCh38]
Chr4:57797230 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.1011C>T (p.Cys337=) |
single nucleotide variant |
not provided [RCV000895757] |
Chr4:56929869 [GRCh38]
Chr4:57796035 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.618A>C (p.Ala206=) |
single nucleotide variant |
REST-related disorder [RCV003930678]|not provided [RCV000886787] |
Chr4:56911256 [GRCh38]
Chr4:57777422 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2008G>A (p.Val670Met) |
single nucleotide variant |
REST-related disorder [RCV003940560]|not provided [RCV000886788] |
Chr4:56930866 [GRCh38]
Chr4:57797032 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.3293A>G (p.Ter1098=) |
single nucleotide variant |
not provided [RCV000918426] |
Chr4:56932151 [GRCh38]
Chr4:57798317 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2729C>T (p.Ala910Val) |
single nucleotide variant |
not provided [RCV000937214] |
Chr4:56931587 [GRCh38]
Chr4:57797753 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1884G>T (p.Val628=) |
single nucleotide variant |
not provided [RCV000982746] |
Chr4:56930742 [GRCh38]
Chr4:57796908 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.265dup (p.Glu89fs) |
duplication |
not provided [RCV000818840] |
Chr4:56910902..56910903 [GRCh38]
Chr4:57777068..57777069 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.2486A>G (p.Glu829Gly) |
single nucleotide variant |
REST-related disorder [RCV003953448]|not provided [RCV001054651] |
Chr4:56931344 [GRCh38]
Chr4:57797510 [GRCh37]
Chr4:4q12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_005612.5(REST):c.2941G>C (p.Glu981Gln) |
single nucleotide variant |
not provided [RCV001058230] |
Chr4:56931799 [GRCh38]
Chr4:57797965 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1342A>G (p.Ile448Val) |
single nucleotide variant |
not provided [RCV001053637] |
Chr4:56930200 [GRCh38]
Chr4:57796366 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4q12(chr4:57708847-57780602)x1 |
copy number loss |
not provided [RCV000846156] |
Chr4:57708847..57780602 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2340G>T (p.Glu780Asp) |
single nucleotide variant |
not provided [RCV001229697] |
Chr4:56931198 [GRCh38]
Chr4:57797364 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.527A>G (p.His176Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003163631]|not provided [RCV001213984] |
Chr4:56911165 [GRCh38]
Chr4:57777331 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1889C>T (p.Pro630Leu) |
single nucleotide variant |
not provided [RCV001243115] |
Chr4:56930747 [GRCh38]
Chr4:57796913 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.593C>T (p.Ala198Val) |
single nucleotide variant |
not provided [RCV001241448] |
Chr4:56911231 [GRCh38]
Chr4:57777397 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2680C>T (p.Leu894Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002563960]|not provided [RCV001239828] |
Chr4:56931538 [GRCh38]
Chr4:57797704 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1721G>C (p.Cys574Ser) |
single nucleotide variant |
not provided [RCV001210246] |
Chr4:56930579 [GRCh38]
Chr4:57796745 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2783C>T (p.Thr928Met) |
single nucleotide variant |
not provided [RCV001248568] |
Chr4:56931641 [GRCh38]
Chr4:57797807 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3263A>G (p.Tyr1088Cys) |
single nucleotide variant |
not provided [RCV001212116] |
Chr4:56932121 [GRCh38]
Chr4:57798287 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2809A>T (p.Lys937Ter) |
single nucleotide variant |
Fibromatosis, gingival, 5 [RCV003127327] |
Chr4:56931667 [GRCh38]
Chr4:57797833 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.898+118A>T |
single nucleotide variant |
not provided [RCV001695361] |
Chr4:56911654 [GRCh38]
Chr4:57777820 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.*292T>A |
single nucleotide variant |
not provided [RCV001671289] |
Chr4:56932444 [GRCh38]
Chr4:57798610 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.983-223_983-218del |
deletion |
not provided [RCV001688705] |
Chr4:56929613..56929618 [GRCh38]
Chr4:57795779..57795784 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.274G>A (p.Gly92Arg) |
single nucleotide variant |
REST-related disorder [RCV003940552]|not provided [RCV000886566] |
Chr4:56910912 [GRCh38]
Chr4:57777078 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.2331T>G (p.Val777=) |
single nucleotide variant |
not provided [RCV000886196] |
Chr4:56931189 [GRCh38]
Chr4:57797355 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1615T>C (p.Ser539Pro) |
single nucleotide variant |
not provided [RCV000948276] |
Chr4:56930473 [GRCh38]
Chr4:57796639 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1431A>G (p.Lys477=) |
single nucleotide variant |
not provided [RCV000929161] |
Chr4:56930289 [GRCh38]
Chr4:57796455 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3003G>A (p.Glu1001=) |
single nucleotide variant |
not provided [RCV000898574] |
Chr4:56931861 [GRCh38]
Chr4:57798027 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1542T>G (p.Ser514Arg) |
single nucleotide variant |
not provided [RCV001244389] |
Chr4:56930400 [GRCh38]
Chr4:57796566 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2277_2324del (p.Lys762_Val777del) |
deletion |
not provided [RCV001235982] |
Chr4:56931118..56931165 [GRCh38]
Chr4:57797284..57797331 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1582C>T (p.His528Tyr) |
single nucleotide variant |
not provided [RCV001213554] |
Chr4:56930440 [GRCh38]
Chr4:57796606 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2259_2306del (p.Met753_Pro768del) |
deletion |
not provided [RCV001224630] |
Chr4:56931095..56931142 [GRCh38]
Chr4:57797261..57797308 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3164C>T (p.Ala1055Val) |
single nucleotide variant |
REST-related disorder [RCV003973155]|not provided [RCV001235209] |
Chr4:56932022 [GRCh38]
Chr4:57798188 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.351C>T (p.Ser117=) |
single nucleotide variant |
not provided [RCV000889469] |
Chr4:56910989 [GRCh38]
Chr4:57777155 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1946A>G (p.Asp649Gly) |
single nucleotide variant |
not provided [RCV000956215] |
Chr4:56930804 [GRCh38]
Chr4:57796970 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2103G>A (p.Met701Ile) |
single nucleotide variant |
not provided [RCV000956216] |
Chr4:56930961 [GRCh38]
Chr4:57797127 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.899-167A>T |
single nucleotide variant |
not provided [RCV001678389] |
Chr4:56919620 [GRCh38]
Chr4:57785786 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.983-2070A>G |
single nucleotide variant |
not provided [RCV001689346] |
Chr4:56927771 [GRCh38]
Chr4:57793937 [GRCh37]
Chr4:4q12 |
benign |
| GRCh37/hg19 4q12(chr4:57067953-57957651)x3 |
copy number gain |
not provided [RCV001005548] |
Chr4:57067953..57957651 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2873A>C (p.Asn958Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002553354]|not provided [RCV001055429] |
Chr4:56931731 [GRCh38]
Chr4:57797897 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.983-2256G>A |
single nucleotide variant |
REST-related disorder [RCV003941067]|not provided [RCV001668008] |
Chr4:56927585 [GRCh38]
Chr4:57793751 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.-9-281G>A |
single nucleotide variant |
not provided [RCV001708513] |
Chr4:56910349 [GRCh38]
Chr4:57776515 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1637A>G (p.Lys546Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003363100]|not provided [RCV001069474] |
Chr4:56930495 [GRCh38]
Chr4:57796661 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2327C>T (p.Pro776Leu) |
single nucleotide variant |
not provided [RCV001058129] |
Chr4:56931185 [GRCh38]
Chr4:57797351 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1344A>G (p.Ile448Met) |
single nucleotide variant |
Wilms tumor 6 [RCV001526813]|not provided [RCV001212714] |
Chr4:56930202 [GRCh38]
Chr4:57796368 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1324A>G (p.Thr442Ala) |
single nucleotide variant |
not provided [RCV001213709] |
Chr4:56930182 [GRCh38]
Chr4:57796348 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.302G>A (p.Gly101Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003243440]|not provided [RCV001051855] |
Chr4:56910940 [GRCh38]
Chr4:57777106 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2259G>A (p.Met753Ile) |
single nucleotide variant |
not provided [RCV001213261] |
Chr4:56931117 [GRCh38]
Chr4:57797283 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2179G>A (p.Glu727Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002554548]|not provided [RCV001068521] |
Chr4:56931037 [GRCh38]
Chr4:57797203 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3098A>G (p.His1033Arg) |
single nucleotide variant |
not provided [RCV001215115] |
Chr4:56931956 [GRCh38]
Chr4:57798122 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.440_441dup (p.Glu148fs) |
duplication |
not provided [RCV001041844] |
Chr4:56911076..56911077 [GRCh38]
Chr4:57777242..57777243 [GRCh37]
Chr4:4q12 |
pathogenic |
| GRCh37/hg19 4q12(chr4:57588857-57872994)x3 |
copy number gain |
not provided [RCV001258646] |
Chr4:57588857..57872994 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2813A>G (p.His938Arg) |
single nucleotide variant |
not provided [RCV001313088] |
Chr4:56931671 [GRCh38]
Chr4:57797837 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2824A>G (p.Ser942Gly) |
single nucleotide variant |
not provided [RCV001319263] |
Chr4:56931682 [GRCh38]
Chr4:57797848 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2347C>T (p.Pro783Ser) |
single nucleotide variant |
not provided [RCV001305547] |
Chr4:56931205 [GRCh38]
Chr4:57797371 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2225A>G (p.Lys742Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003355366]|not provided [RCV001299646] |
Chr4:56931083 [GRCh38]
Chr4:57797249 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.70A>G (p.Met24Val) |
single nucleotide variant |
not provided [RCV001348285] |
Chr4:56910708 [GRCh38]
Chr4:57776874 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2494C>T (p.Arg832Trp) |
single nucleotide variant |
not provided [RCV001303688] |
Chr4:56931352 [GRCh38]
Chr4:57797518 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1343T>C (p.Ile448Thr) |
single nucleotide variant |
REST-related disorder [RCV003426041]|not provided [RCV001313302] |
Chr4:56930201 [GRCh38]
Chr4:57796367 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.843C>T (p.Cys281=) |
single nucleotide variant |
not provided [RCV001318758] |
Chr4:56911481 [GRCh38]
Chr4:57777647 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.1639G>T (p.Val547Leu) |
single nucleotide variant |
Wilms tumor 6 [RCV002254722]|not provided [RCV001325863] |
Chr4:56930497 [GRCh38]
Chr4:57796663 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1652C>G (p.Ser551Cys) |
single nucleotide variant |
not provided [RCV001337405] |
Chr4:56930510 [GRCh38]
Chr4:57796676 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2992G>A (p.Ala998Thr) |
single nucleotide variant |
not provided [RCV001296645] |
Chr4:56931850 [GRCh38]
Chr4:57798016 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1879C>G (p.Gln627Glu) |
single nucleotide variant |
not provided [RCV001340513] |
Chr4:56930737 [GRCh38]
Chr4:57796903 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3137A>G (p.Asn1046Ser) |
single nucleotide variant |
not provided [RCV001306516] |
Chr4:56931995 [GRCh38]
Chr4:57798161 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.679C>T (p.Arg227Ter) |
single nucleotide variant |
not provided [RCV003690896] |
Chr4:56911317 [GRCh38]
Chr4:57777483 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.1656A>C (p.Lys552Asn) |
single nucleotide variant |
not provided [RCV001372196] |
Chr4:56930514 [GRCh38]
Chr4:57796680 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.556T>C (p.Phe186Leu) |
single nucleotide variant |
not provided [RCV001372586] |
Chr4:56911194 [GRCh38]
Chr4:57777360 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.659G>A (p.Arg220His) |
single nucleotide variant |
not provided [RCV001369307] |
Chr4:56911297 [GRCh38]
Chr4:57777463 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1284G>A (p.Lys428=) |
single nucleotide variant |
not provided [RCV001421761] |
Chr4:56930142 [GRCh38]
Chr4:57796308 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.111C>G (p.Ser37=) |
single nucleotide variant |
not provided [RCV001415326] |
Chr4:56910749 [GRCh38]
Chr4:57776915 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1747A>G (p.Thr583Ala) |
single nucleotide variant |
not provided [RCV001312298] |
Chr4:56930605 [GRCh38]
Chr4:57796771 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3156A>G (p.Ala1052=) |
single nucleotide variant |
not provided [RCV001423132] |
Chr4:56932014 [GRCh38]
Chr4:57798180 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.296T>C (p.Ile99Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004036389]|not provided [RCV001343405] |
Chr4:56910934 [GRCh38]
Chr4:57777100 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2182C>G (p.Pro728Ala) |
single nucleotide variant |
not provided [RCV001364099] |
Chr4:56931040 [GRCh38]
Chr4:57797206 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.419T>G (p.Leu140Arg) |
single nucleotide variant |
not provided [RCV001344821] |
Chr4:56911057 [GRCh38]
Chr4:57777223 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2083C>G (p.Gln695Glu) |
single nucleotide variant |
not provided [RCV001340762] |
Chr4:56930941 [GRCh38]
Chr4:57797107 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2087C>T (p.Thr696Met) |
single nucleotide variant |
not provided [RCV001373963] |
Chr4:56930945 [GRCh38]
Chr4:57797111 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2735A>C (p.Asn912Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002546092]|not provided [RCV001322230] |
Chr4:56931593 [GRCh38]
Chr4:57797759 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2909T>A (p.Val970Asp) |
single nucleotide variant |
not provided [RCV001347368] |
Chr4:56931767 [GRCh38]
Chr4:57797933 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2774A>G (p.Asn925Ser) |
single nucleotide variant |
not provided [RCV001374217] |
Chr4:56931632 [GRCh38]
Chr4:57797798 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2581TCACCACCA[1] (p.861SPP[1]) |
microsatellite |
not provided [RCV001307048] |
Chr4:56931439..56931447 [GRCh38]
Chr4:57797605..57797613 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2065C>T (p.Pro689Ser) |
single nucleotide variant |
not provided [RCV001320823] |
Chr4:56930923 [GRCh38]
Chr4:57797089 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.147G>A (p.Leu49=) |
single nucleotide variant |
not provided [RCV001370756] |
Chr4:56910785 [GRCh38]
Chr4:57776951 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2318A>G (p.Gln773Arg) |
single nucleotide variant |
not provided [RCV001323699] |
Chr4:56931176 [GRCh38]
Chr4:57797342 [GRCh37]
Chr4:4q12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_005612.5(REST):c.1925C>T (p.Ala642Val) |
single nucleotide variant |
not provided [RCV001315343] |
Chr4:56930783 [GRCh38]
Chr4:57796949 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.92A>G (p.Tyr31Cys) |
single nucleotide variant |
not provided [RCV001341699] |
Chr4:56910730 [GRCh38]
Chr4:57776896 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2560A>G (p.Ser854Gly) |
single nucleotide variant |
not provided [RCV001366190] |
Chr4:56931418 [GRCh38]
Chr4:57797584 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.457A>G (p.Ser153Gly) |
single nucleotide variant |
not provided [RCV001295758] |
Chr4:56911095 [GRCh38]
Chr4:57777261 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1640T>C (p.Val547Ala) |
single nucleotide variant |
REST-related disorder [RCV003945983]|not provided [RCV001305378] |
Chr4:56930498 [GRCh38]
Chr4:57796664 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.222A>G (p.Ala74=) |
single nucleotide variant |
not provided [RCV001395357] |
Chr4:56910860 [GRCh38]
Chr4:57777026 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2068C>T (p.Pro690Ser) |
single nucleotide variant |
not provided [RCV001351997] |
Chr4:56930926 [GRCh38]
Chr4:57797092 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.239G>A (p.Gly80Glu) |
single nucleotide variant |
not provided [RCV001368214] |
Chr4:56910877 [GRCh38]
Chr4:57777043 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1900A>G (p.Met634Val) |
single nucleotide variant |
not provided [RCV001316501] |
Chr4:56930758 [GRCh38]
Chr4:57796924 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2018C>T (p.Ala673Val) |
single nucleotide variant |
not provided [RCV001300634] |
Chr4:56930876 [GRCh38]
Chr4:57797042 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2443C>T (p.Pro815Ser) |
single nucleotide variant |
REST-related disorder [RCV003973217]|not provided [RCV001357093] |
Chr4:56931301 [GRCh38]
Chr4:57797467 [GRCh37]
Chr4:4q12 |
benign|likely benign|uncertain significance |
| NM_005612.5(REST):c.2541T>C (p.Asp847=) |
single nucleotide variant |
REST-related disorder [RCV003920898]|not provided [RCV001412802] |
Chr4:56931399 [GRCh38]
Chr4:57797565 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2305A>G (p.Ile769Val) |
single nucleotide variant |
not provided [RCV001312545] |
Chr4:56931163 [GRCh38]
Chr4:57797329 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2996C>G (p.Ala999Gly) |
single nucleotide variant |
not provided [RCV001326110] |
Chr4:56931854 [GRCh38]
Chr4:57798020 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1948G>A (p.Glu650Lys) |
single nucleotide variant |
not provided [RCV001324993] |
Chr4:56930806 [GRCh38]
Chr4:57796972 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.858C>G (p.Asp286Glu) |
single nucleotide variant |
not provided [RCV001313216] |
Chr4:56911496 [GRCh38]
Chr4:57777662 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2603C>T (p.Pro868Leu) |
single nucleotide variant |
not provided [RCV001358314] |
Chr4:56931461 [GRCh38]
Chr4:57797627 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2413C>G (p.Leu805Val) |
single nucleotide variant |
not provided [RCV001366058] |
Chr4:56931271 [GRCh38]
Chr4:57797437 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1279C>T (p.Leu427=) |
single nucleotide variant |
REST-related disorder [RCV003946252]|not provided [RCV001481341] |
Chr4:56930137 [GRCh38]
Chr4:57796303 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1902G>A (p.Met634Ile) |
single nucleotide variant |
REST-related disorder [RCV003965941]|not provided [RCV001470203] |
Chr4:56930760 [GRCh38]
Chr4:57796926 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2013G>T (p.Glu671Asp) |
single nucleotide variant |
not provided [RCV001520164] |
Chr4:56930871 [GRCh38]
Chr4:57797037 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.663C>T (p.Cys221=) |
single nucleotide variant |
not provided [RCV001399513] |
Chr4:56911301 [GRCh38]
Chr4:57777467 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2844A>G (p.Lys948=) |
single nucleotide variant |
not provided [RCV001473565] |
Chr4:56931702 [GRCh38]
Chr4:57797868 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.528T>C (p.His176=) |
single nucleotide variant |
not provided [RCV001496445] |
Chr4:56911166 [GRCh38]
Chr4:57777332 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2442T>G (p.Pro814=) |
single nucleotide variant |
not provided [RCV001491145] |
Chr4:56931300 [GRCh38]
Chr4:57797466 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2284A>C (p.Lys762Gln) |
single nucleotide variant |
not provided [RCV001511562] |
Chr4:56931142 [GRCh38]
Chr4:57797308 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1719T>G (p.Thr573=) |
single nucleotide variant |
not provided [RCV001488578] |
Chr4:56930577 [GRCh38]
Chr4:57796743 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2236C>A (p.Gln746Lys) |
single nucleotide variant |
REST-related disorder [RCV003908809]|not provided [RCV001511744] |
Chr4:56931094 [GRCh38]
Chr4:57797260 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.2958C>A (p.Ser986=) |
single nucleotide variant |
not provided [RCV001512165] |
Chr4:56931816 [GRCh38]
Chr4:57797982 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2826T>C (p.Ser942=) |
single nucleotide variant |
not provided [RCV001415906] |
Chr4:56931684 [GRCh38]
Chr4:57797850 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1875C>T (p.Pro625=) |
single nucleotide variant |
REST-related disorder [RCV003908820]|not provided [RCV001513811] |
Chr4:56930733 [GRCh38]
Chr4:57796899 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.3225C>T (p.Tyr1075=) |
single nucleotide variant |
not provided [RCV001467371] |
Chr4:56932083 [GRCh38]
Chr4:57798249 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2390C>T (p.Pro797Leu) |
single nucleotide variant |
not provided [RCV001518010] |
Chr4:56931248 [GRCh38]
Chr4:57797414 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2644T>A (p.Leu882Ile) |
single nucleotide variant |
not provided [RCV001419507] |
Chr4:56931502 [GRCh38]
Chr4:57797668 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.183CTG[1] (p.Cys63del) |
microsatellite |
REST-related disorder [RCV003938889]|not provided [RCV001493653] |
Chr4:56910820..56910822 [GRCh38]
Chr4:57776986..57776988 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1947C>T (p.Asp649=) |
single nucleotide variant |
not provided [RCV001443260] |
Chr4:56930805 [GRCh38]
Chr4:57796971 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2955G>A (p.Val985=) |
single nucleotide variant |
not provided [RCV001443749] |
Chr4:56931813 [GRCh38]
Chr4:57797979 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1452A>G (p.Ser484=) |
single nucleotide variant |
not provided [RCV001428886] |
Chr4:56930310 [GRCh38]
Chr4:57796476 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.873T>C (p.Tyr291=) |
single nucleotide variant |
not provided [RCV001449430] |
Chr4:56911511 [GRCh38]
Chr4:57777677 [GRCh37]
Chr4:4q12 |
likely benign |
| GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 |
copy number loss |
Piebaldism [RCV001420508] |
Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1 |
pathogenic |
| NM_005612.5(REST):c.2287A>G (p.Ile763Val) |
single nucleotide variant |
REST-related disorder [RCV003963292]|not provided [RCV001407794] |
Chr4:56931145 [GRCh38]
Chr4:57797311 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3258G>A (p.Val1086=) |
single nucleotide variant |
not provided [RCV001436310] |
Chr4:56932116 [GRCh38]
Chr4:57798282 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1071G>T (p.Gly357=) |
single nucleotide variant |
not provided [RCV001401688] |
Chr4:56929929 [GRCh38]
Chr4:57796095 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2571A>G (p.Thr857=) |
single nucleotide variant |
not provided [RCV001430061] |
Chr4:56931429 [GRCh38]
Chr4:57797595 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3171G>A (p.Lys1057=) |
single nucleotide variant |
not provided [RCV001514958] |
Chr4:56932029 [GRCh38]
Chr4:57798195 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2326C>G (p.Pro776Ala) |
single nucleotide variant |
not provided [RCV001519630] |
Chr4:56931184 [GRCh38]
Chr4:57797350 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.1266C>T (p.Val422=) |
single nucleotide variant |
not provided [RCV001473274] |
Chr4:56930124 [GRCh38]
Chr4:57796290 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3267T>G (p.Leu1089=) |
single nucleotide variant |
not provided [RCV001491240] |
Chr4:56932125 [GRCh38]
Chr4:57798291 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2778G>A (p.Leu926=) |
single nucleotide variant |
REST-related disorder [RCV003900582]|not provided [RCV001458835] |
Chr4:56931636 [GRCh38]
Chr4:57797802 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.898+243C>T |
single nucleotide variant |
not provided [RCV001695860] |
Chr4:56911779 [GRCh38]
Chr4:57777945 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.3165G>A (p.Ala1055=) |
single nucleotide variant |
not provided [RCV001522085] |
Chr4:56932023 [GRCh38]
Chr4:57798189 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.234G>T (p.Pro78=) |
single nucleotide variant |
not provided [RCV001512767] |
Chr4:56910872 [GRCh38]
Chr4:57777038 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.354C>T (p.Val118=) |
single nucleotide variant |
not provided [RCV001504320] |
Chr4:56910992 [GRCh38]
Chr4:57777158 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.150A>T (p.Ala50=) |
single nucleotide variant |
not provided [RCV001498708] |
Chr4:56910788 [GRCh38]
Chr4:57776954 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1095C>T (p.His365=) |
single nucleotide variant |
REST-related disorder [RCV003931109]|not provided [RCV001518589] |
Chr4:56929953 [GRCh38]
Chr4:57796119 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.2333A>G (p.Gln778Arg) |
single nucleotide variant |
not provided [RCV001436061] |
Chr4:56931191 [GRCh38]
Chr4:57797357 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.753C>T (p.Ile251=) |
single nucleotide variant |
not provided [RCV001457506] |
Chr4:56911391 [GRCh38]
Chr4:57777557 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.441G>A (p.Ala147=) |
single nucleotide variant |
not provided [RCV001477516] |
Chr4:56911079 [GRCh38]
Chr4:57777245 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.720A>G (p.Arg240=) |
single nucleotide variant |
not provided [RCV001502643] |
Chr4:56911358 [GRCh38]
Chr4:57777524 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2457T>C (p.Asp819=) |
single nucleotide variant |
not provided [RCV001521484] |
Chr4:56931315 [GRCh38]
Chr4:57797481 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.1876G>A (p.Val626Ile) |
single nucleotide variant |
not provided [RCV001514928] |
Chr4:56930734 [GRCh38]
Chr4:57796900 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.3150C>G (p.Ala1050=) |
single nucleotide variant |
not provided [RCV001514929] |
Chr4:56932008 [GRCh38]
Chr4:57798174 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.3120A>G (p.Gln1040=) |
single nucleotide variant |
REST-related disorder [RCV003921170]|not provided [RCV001521787] |
Chr4:56931978 [GRCh38]
Chr4:57798144 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2076G>T (p.Glu692Asp) |
single nucleotide variant |
not provided [RCV001511561] |
Chr4:56930934 [GRCh38]
Chr4:57797100 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2907A>G (p.Pro969=) |
single nucleotide variant |
not provided [RCV001400723] |
Chr4:56931765 [GRCh38]
Chr4:57797931 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2203C>T (p.Pro735Ser) |
single nucleotide variant |
not provided [RCV001515494] |
Chr4:56931061 [GRCh38]
Chr4:57797227 [GRCh37]
Chr4:4q12 |
benign|conflicting interpretations of pathogenicity |
| NM_005612.5(REST):c.612C>T (p.Ser204=) |
single nucleotide variant |
not provided [RCV001517741] |
Chr4:56911250 [GRCh38]
Chr4:57777416 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.324C>T (p.Asn108=) |
single nucleotide variant |
REST-related disorder [RCV003908695]|not provided [RCV001463581] |
Chr4:56910962 [GRCh38]
Chr4:57777128 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3150C>T (p.Ala1050=) |
single nucleotide variant |
not provided [RCV003104798] |
Chr4:56932008 [GRCh38]
Chr4:57798174 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2675C>G (p.Ala892Gly) |
single nucleotide variant |
not provided [RCV003108634] |
Chr4:56931533 [GRCh38]
Chr4:57797699 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.645dup (p.Ile216fs) |
duplication |
REST-related disorder [RCV003394242]|not provided [RCV001756897] |
Chr4:56911279..56911280 [GRCh38]
Chr4:57777445..57777446 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1778G>A (p.Ser593Asn) |
single nucleotide variant |
not provided [RCV001771444] |
Chr4:56930636 [GRCh38]
Chr4:57796802 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2989A>G (p.Met997Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004040841]|Wilms tumor 6 [RCV001789831]|not provided [RCV003560849] |
Chr4:56931847 [GRCh38]
Chr4:57798013 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2416C>T (p.His806Tyr) |
single nucleotide variant |
not provided [RCV001982648] |
Chr4:56931274 [GRCh38]
Chr4:57797440 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1826_1840del (p.Asp609_Met613del) |
deletion |
not provided [RCV001800101] |
Chr4:56930675..56930689 [GRCh38]
Chr4:57796841..57796855 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1825G>C (p.Asp609His) |
single nucleotide variant |
not provided [RCV001988781] |
Chr4:56930683 [GRCh38]
Chr4:57796849 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.352G>A (p.Val118Ile) |
single nucleotide variant |
not provided [RCV001893728] |
Chr4:56910990 [GRCh38]
Chr4:57777156 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1250A>G (p.Asn417Ser) |
single nucleotide variant |
not provided [RCV001950717] |
Chr4:56930108 [GRCh38]
Chr4:57796274 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2780A>G (p.Asn927Ser) |
single nucleotide variant |
not provided [RCV001987716] |
Chr4:56931638 [GRCh38]
Chr4:57797804 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1370T>C (p.Val457Ala) |
single nucleotide variant |
not provided [RCV002023551] |
Chr4:56930228 [GRCh38]
Chr4:57796394 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1318A>G (p.Asn440Asp) |
single nucleotide variant |
not provided [RCV001911314] |
Chr4:56930176 [GRCh38]
Chr4:57796342 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1595G>A (p.Gly532Asp) |
single nucleotide variant |
not provided [RCV001987991] |
Chr4:56930453 [GRCh38]
Chr4:57796619 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2558A>G (p.Glu853Gly) |
single nucleotide variant |
not provided [RCV001915302] |
Chr4:56931416 [GRCh38]
Chr4:57797582 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2354T>C (p.Met785Thr) |
single nucleotide variant |
REST-related disorder [RCV003394294]|not provided [RCV001863346] |
Chr4:56931212 [GRCh38]
Chr4:57797378 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.425del (p.Pro142fs) |
deletion |
not provided [RCV001928792] |
Chr4:56911059 [GRCh38]
Chr4:57777225 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.1784C>G (p.Pro595Arg) |
single nucleotide variant |
not provided [RCV001982737] |
Chr4:56930642 [GRCh38]
Chr4:57796808 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2392C>T (p.Pro798Ser) |
single nucleotide variant |
not provided [RCV001987554] |
Chr4:56931250 [GRCh38]
Chr4:57797416 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2025G>C (p.Met675Ile) |
single nucleotide variant |
not provided [RCV002021898] |
Chr4:56930883 [GRCh38]
Chr4:57797049 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2810A>C (p.Lys937Thr) |
single nucleotide variant |
not provided [RCV001911282] |
Chr4:56931668 [GRCh38]
Chr4:57797834 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.532A>T (p.Ile178Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003289184]|not provided [RCV001912455] |
Chr4:56911170 [GRCh38]
Chr4:57777336 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1624A>G (p.Lys542Glu) |
single nucleotide variant |
not provided [RCV002040368] |
Chr4:56930482 [GRCh38]
Chr4:57796648 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2984C>G (p.Ala995Gly) |
single nucleotide variant |
not provided [RCV001968223] |
Chr4:56931842 [GRCh38]
Chr4:57798008 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2428A>G (p.Ile810Val) |
single nucleotide variant |
not provided [RCV001964834] |
Chr4:56931286 [GRCh38]
Chr4:57797452 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.524T>C (p.Val175Ala) |
single nucleotide variant |
not provided [RCV001946279] |
Chr4:56911162 [GRCh38]
Chr4:57777328 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1865A>G (p.Gln622Arg) |
single nucleotide variant |
not provided [RCV001945938] |
Chr4:56930723 [GRCh38]
Chr4:57796889 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1 |
copy number loss |
not provided [RCV001829079] |
Chr4:52685685..58104722 [GRCh37]
Chr4:4q11-12 |
pathogenic |
| NM_005612.5(REST):c.2050C>G (p.His684Asp) |
single nucleotide variant |
not provided [RCV002041746] |
Chr4:56930908 [GRCh38]
Chr4:57797074 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2917A>G (p.Met973Val) |
single nucleotide variant |
not provided [RCV001893964] |
Chr4:56931775 [GRCh38]
Chr4:57797941 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2419A>G (p.Met807Val) |
single nucleotide variant |
not provided [RCV001969842] |
Chr4:56931277 [GRCh38]
Chr4:57797443 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1402G>A (p.Ala468Thr) |
single nucleotide variant |
not provided [RCV001945162] |
Chr4:56930260 [GRCh38]
Chr4:57796426 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1876G>C (p.Val626Leu) |
single nucleotide variant |
not provided [RCV001914018] |
Chr4:56930734 [GRCh38]
Chr4:57796900 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1289C>G (p.Thr430Ser) |
single nucleotide variant |
not provided [RCV002043088] |
Chr4:56930147 [GRCh38]
Chr4:57796313 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3152T>C (p.Leu1051Ser) |
single nucleotide variant |
not provided [RCV001910181] |
Chr4:56932010 [GRCh38]
Chr4:57798176 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3269AAG[1] (p.Glu1091del) |
microsatellite |
not provided [RCV001871218] |
Chr4:56932126..56932128 [GRCh38]
Chr4:57798292..57798294 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2567G>A (p.Ser856Asn) |
single nucleotide variant |
not provided [RCV002042058] |
Chr4:56931425 [GRCh38]
Chr4:57797591 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1169A>G (p.Asn390Ser) |
single nucleotide variant |
not provided [RCV001946363] |
Chr4:56930027 [GRCh38]
Chr4:57796193 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 |
copy number gain |
not provided [RCV001827738] |
Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21 |
pathogenic |
| NM_005612.5(REST):c.2817G>C (p.Gln939His) |
single nucleotide variant |
not provided [RCV002004481] |
Chr4:56931675 [GRCh38]
Chr4:57797841 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2483G>A (p.Ser828Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002545577]|not provided [RCV002022894] |
Chr4:56931341 [GRCh38]
Chr4:57797507 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1043C>T (p.Thr348Ile) |
single nucleotide variant |
not provided [RCV002007063] |
Chr4:56929901 [GRCh38]
Chr4:57796067 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2040T>G (p.Ile680Met) |
single nucleotide variant |
not provided [RCV002021403] |
Chr4:56930898 [GRCh38]
Chr4:57797064 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1939_1940delinsTT (p.Ala647Phe) |
indel |
not provided [RCV002023267] |
Chr4:56930797..56930798 [GRCh38]
Chr4:57796963..57796964 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2249C>G (p.Ser750Cys) |
single nucleotide variant |
not provided [RCV002004549] |
Chr4:56931107 [GRCh38]
Chr4:57797273 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2193_2240del (p.Met731_Gln746del) |
deletion |
not provided [RCV001989714] |
Chr4:56931023..56931070 [GRCh38]
Chr4:57797189..57797236 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1658A>G (p.Asn553Ser) |
single nucleotide variant |
not provided [RCV001999438] |
Chr4:56930516 [GRCh38]
Chr4:57796682 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.637A>C (p.Lys213Gln) |
single nucleotide variant |
not provided [RCV001922287] |
Chr4:56911275 [GRCh38]
Chr4:57777441 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2743G>A (p.Glu915Lys) |
single nucleotide variant |
not provided [RCV001887787] |
Chr4:56931601 [GRCh38]
Chr4:57797767 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2708A>G (p.Asp903Gly) |
single nucleotide variant |
not provided [RCV002014686] |
Chr4:56931566 [GRCh38]
Chr4:57797732 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.124G>A (p.Ala42Thr) |
single nucleotide variant |
not provided [RCV001942738] |
Chr4:56910762 [GRCh38]
Chr4:57776928 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NC_000004.11:g.(?_55124936)_(57798318_?)dup |
duplication |
TMEM165-congenital disorder of glycosylation [RCV003120758]|not provided [RCV001944395] |
Chr4:55124936..57798318 [GRCh37]
Chr4:4q12 |
uncertain significance|no classifications from unflagged records |
| NM_005612.5(REST):c.1723A>G (p.Met575Val) |
single nucleotide variant |
not provided [RCV001963441] |
Chr4:56930581 [GRCh38]
Chr4:57796747 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2477T>C (p.Met826Thr) |
single nucleotide variant |
not provided [RCV001923297] |
Chr4:56931335 [GRCh38]
Chr4:57797501 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2348C>T (p.Pro783Leu) |
single nucleotide variant |
not provided [RCV001958169] |
Chr4:56931206 [GRCh38]
Chr4:57797372 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2492C>T (p.Ala831Val) |
single nucleotide variant |
not provided [RCV001959831] |
Chr4:56931350 [GRCh38]
Chr4:57797516 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1798C>G (p.Pro600Ala) |
single nucleotide variant |
not provided [RCV001952416] |
Chr4:56930656 [GRCh38]
Chr4:57796822 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1649A>G (p.Lys550Arg) |
single nucleotide variant |
not provided [RCV001981514] |
Chr4:56930507 [GRCh38]
Chr4:57796673 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3131G>C (p.Arg1044Thr) |
single nucleotide variant |
not provided [RCV001936272] |
Chr4:56931989 [GRCh38]
Chr4:57798155 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.919G>A (p.Glu307Lys) |
single nucleotide variant |
not provided [RCV002046760] |
Chr4:56919807 [GRCh38]
Chr4:57785973 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.96_98dup (p.Asp32_Leu33insPhe) |
duplication |
not provided [RCV001901769] |
Chr4:56910733..56910734 [GRCh38]
Chr4:57776899..57776900 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2032G>T (p.Ala678Ser) |
single nucleotide variant |
not provided [RCV002031528] |
Chr4:56930890 [GRCh38]
Chr4:57797056 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2689G>A (p.Val897Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002562917]|not provided [RCV001958248] |
Chr4:56931547 [GRCh38]
Chr4:57797713 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2092G>T (p.Val698Phe) |
single nucleotide variant |
not provided [RCV001935188] |
Chr4:56930950 [GRCh38]
Chr4:57797116 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2238G>T (p.Gln746His) |
single nucleotide variant |
Inborn genetic diseases [RCV002548985]|not provided [RCV002031169] |
Chr4:56931096 [GRCh38]
Chr4:57797262 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2161del (p.Met721fs) |
deletion |
not provided [RCV002031640] |
Chr4:56931019 [GRCh38]
Chr4:57797185 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.4G>A (p.Ala2Thr) |
single nucleotide variant |
not provided [RCV001973228] |
Chr4:56910642 [GRCh38]
Chr4:57776808 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2074G>A (p.Glu692Lys) |
single nucleotide variant |
not provided [RCV001917007] |
Chr4:56930932 [GRCh38]
Chr4:57797098 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.416A>G (p.Asp139Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004043631]|not provided [RCV001952255] |
Chr4:56911054 [GRCh38]
Chr4:57777220 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2503C>A (p.Gln835Lys) |
single nucleotide variant |
not provided [RCV001994228] |
Chr4:56931361 [GRCh38]
Chr4:57797527 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.614C>T (p.Thr205Ile) |
single nucleotide variant |
REST-related disorder [RCV003407966]|not provided [RCV001936174] |
Chr4:56911252 [GRCh38]
Chr4:57777418 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2611A>G (p.Asn871Asp) |
single nucleotide variant |
not provided [RCV001936774] |
Chr4:56931469 [GRCh38]
Chr4:57797635 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.982+3T>G |
single nucleotide variant |
not provided [RCV001897469] |
Chr4:56919873 [GRCh38]
Chr4:57786039 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2548C>G (p.Leu850Val) |
single nucleotide variant |
not provided [RCV001930860] |
Chr4:56931406 [GRCh38]
Chr4:57797572 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.425C>G (p.Pro142Arg) |
single nucleotide variant |
not provided [RCV001923909] |
Chr4:56911063 [GRCh38]
Chr4:57777229 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1114G>C (p.Asp372His) |
single nucleotide variant |
not provided [RCV001905214] |
Chr4:56929972 [GRCh38]
Chr4:57796138 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1573G>A (p.Val525Ile) |
single nucleotide variant |
not provided [RCV001906547] |
Chr4:56930431 [GRCh38]
Chr4:57796597 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2307A>G (p.Ile769Met) |
single nucleotide variant |
not provided [RCV002047323] |
Chr4:56931165 [GRCh38]
Chr4:57797331 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2073G>A (p.Met691Ile) |
single nucleotide variant |
not provided [RCV001994237] |
Chr4:56930931 [GRCh38]
Chr4:57797097 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3157G>A (p.Val1053Ile) |
single nucleotide variant |
not provided [RCV001884779] |
Chr4:56932015 [GRCh38]
Chr4:57798181 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2685G>C (p.Gln895His) |
single nucleotide variant |
not provided [RCV001904987] |
Chr4:56931543 [GRCh38]
Chr4:57797709 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.90G>T (p.Met30Ile) |
single nucleotide variant |
not provided [RCV001989552] |
Chr4:56910728 [GRCh38]
Chr4:57776894 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2636A>G (p.Asp879Gly) |
single nucleotide variant |
not provided [RCV001900607] |
Chr4:56931494 [GRCh38]
Chr4:57797660 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.621A>G (p.Glu207=) |
single nucleotide variant |
not provided [RCV001897834] |
Chr4:56911259 [GRCh38]
Chr4:57777425 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2141C>T (p.Ala714Val) |
single nucleotide variant |
not provided [RCV001925464] |
Chr4:56930999 [GRCh38]
Chr4:57797165 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3235C>T (p.Leu1079Phe) |
single nucleotide variant |
not provided [RCV001999272] |
Chr4:56932093 [GRCh38]
Chr4:57798259 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1943C>T (p.Pro648Leu) |
single nucleotide variant |
not provided [RCV001884709] |
Chr4:56930801 [GRCh38]
Chr4:57796967 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1621A>G (p.Thr541Ala) |
single nucleotide variant |
not provided [RCV001959642] |
Chr4:56930479 [GRCh38]
Chr4:57796645 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2886A>G (p.Ile962Met) |
single nucleotide variant |
not provided [RCV001939237] |
Chr4:56931744 [GRCh38]
Chr4:57797910 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2477T>G (p.Met826Arg) |
single nucleotide variant |
not provided [RCV001933951] |
Chr4:56931335 [GRCh38]
Chr4:57797501 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.308C>G (p.Pro103Arg) |
single nucleotide variant |
not provided [RCV001918610] |
Chr4:56910946 [GRCh38]
Chr4:57777112 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1362A>C (p.Lys454Asn) |
single nucleotide variant |
not provided [RCV002009598] |
Chr4:56930220 [GRCh38]
Chr4:57796386 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.88A>G (p.Met30Val) |
single nucleotide variant |
not provided [RCV001920405] |
Chr4:56910726 [GRCh38]
Chr4:57776892 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.274G>T (p.Gly92Ter) |
single nucleotide variant |
not provided [RCV001972138] |
Chr4:56910912 [GRCh38]
Chr4:57777078 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.649C>T (p.Arg217Cys) |
single nucleotide variant |
not provided [RCV001916024] |
Chr4:56911287 [GRCh38]
Chr4:57777453 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.863A>G (p.Lys288Arg) |
single nucleotide variant |
not provided [RCV002031963] |
Chr4:56911501 [GRCh38]
Chr4:57777667 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.43C>G (p.Leu15Val) |
single nucleotide variant |
not provided [RCV002046499] |
Chr4:56910681 [GRCh38]
Chr4:57776847 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1299A>G (p.Arg433=) |
single nucleotide variant |
not provided [RCV002075947] |
Chr4:56930157 [GRCh38]
Chr4:57796323 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1706A>T (p.Lys569Ile) |
single nucleotide variant |
REST-related disorder [RCV003951054]|not provided [RCV002111479] |
Chr4:56930564 [GRCh38]
Chr4:57796730 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2511T>C (p.Leu837=) |
single nucleotide variant |
not provided [RCV002091676] |
Chr4:56931369 [GRCh38]
Chr4:57797535 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1890G>A (p.Pro630=) |
single nucleotide variant |
not provided [RCV002188332] |
Chr4:56930748 [GRCh38]
Chr4:57796914 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.294T>A (p.Asp98Glu) |
single nucleotide variant |
not provided [RCV002109329] |
Chr4:56910932 [GRCh38]
Chr4:57777098 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.3018T>C (p.Asp1006=) |
single nucleotide variant |
not provided [RCV002205504] |
Chr4:56931876 [GRCh38]
Chr4:57798042 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.258T>C (p.Asp86=) |
single nucleotide variant |
not provided [RCV002088479] |
Chr4:56910896 [GRCh38]
Chr4:57777062 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.899-14T>C |
single nucleotide variant |
not provided [RCV002188960] |
Chr4:56919773 [GRCh38]
Chr4:57785939 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1638G>A (p.Lys546=) |
single nucleotide variant |
not provided [RCV002190493] |
Chr4:56930496 [GRCh38]
Chr4:57796662 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2151A>G (p.Glu717=) |
single nucleotide variant |
not provided [RCV002208881] |
Chr4:56931009 [GRCh38]
Chr4:57797175 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.129A>G (p.Ala43=) |
single nucleotide variant |
not provided [RCV002105890] |
Chr4:56910767 [GRCh38]
Chr4:57776933 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1758T>A (p.Asn586Lys) |
single nucleotide variant |
not provided [RCV002210253] |
Chr4:56930616 [GRCh38]
Chr4:57796782 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1935G>A (p.Arg645=) |
single nucleotide variant |
not provided [RCV002125198] |
Chr4:56930793 [GRCh38]
Chr4:57796959 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.618A>G (p.Ala206=) |
single nucleotide variant |
not provided [RCV002105099] |
Chr4:56911256 [GRCh38]
Chr4:57777422 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1860G>T (p.Ala620=) |
single nucleotide variant |
not provided [RCV002169320] |
Chr4:56930718 [GRCh38]
Chr4:57796884 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2034C>G (p.Ala678=) |
single nucleotide variant |
not provided [RCV002097499] |
Chr4:56930892 [GRCh38]
Chr4:57797058 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.495A>G (p.Gln165=) |
single nucleotide variant |
not provided [RCV002165476] |
Chr4:56911133 [GRCh38]
Chr4:57777299 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.899-12G>A |
single nucleotide variant |
not provided [RCV002194888] |
Chr4:56919775 [GRCh38]
Chr4:57785941 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2814T>C (p.His938=) |
single nucleotide variant |
not provided [RCV002113574] |
Chr4:56931672 [GRCh38]
Chr4:57797838 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.899-18A>G |
single nucleotide variant |
not provided [RCV002117331] |
Chr4:56919769 [GRCh38]
Chr4:57785935 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1509T>C (p.Asp503=) |
single nucleotide variant |
not provided [RCV002215770] |
Chr4:56930367 [GRCh38]
Chr4:57796533 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.426T>C (p.Pro142=) |
single nucleotide variant |
not provided [RCV002095729] |
Chr4:56911064 [GRCh38]
Chr4:57777230 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.96C>T (p.Asp32=) |
single nucleotide variant |
not provided [RCV002080690] |
Chr4:56910734 [GRCh38]
Chr4:57776900 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.336A>G (p.Arg112=) |
single nucleotide variant |
REST-related disorder [RCV003903529]|not provided [RCV002133635] |
Chr4:56910974 [GRCh38]
Chr4:57777140 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.282A>G (p.Glu94=) |
single nucleotide variant |
not provided [RCV002213838] |
Chr4:56910920 [GRCh38]
Chr4:57777086 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2226G>A (p.Lys742=) |
single nucleotide variant |
not provided [RCV002095392] |
Chr4:56931084 [GRCh38]
Chr4:57797250 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.42G>A (p.Gly14=) |
single nucleotide variant |
not provided [RCV002215301] |
Chr4:56910680 [GRCh38]
Chr4:57776846 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1860G>A (p.Ala620=) |
single nucleotide variant |
not provided [RCV002105761] |
Chr4:56930718 [GRCh38]
Chr4:57796884 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3036C>T (p.His1012=) |
single nucleotide variant |
not provided [RCV002093673] |
Chr4:56931894 [GRCh38]
Chr4:57798060 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.1434G>A (p.Lys478=) |
single nucleotide variant |
not provided [RCV002215625] |
Chr4:56930292 [GRCh38]
Chr4:57796458 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1758T>C (p.Asn586=) |
single nucleotide variant |
not provided [RCV002195121] |
Chr4:56930616 [GRCh38]
Chr4:57796782 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2801T>C (p.Leu934Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004045537]|not provided [RCV002197071] |
Chr4:56931659 [GRCh38]
Chr4:57797825 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.666C>T (p.Gly222=) |
single nucleotide variant |
not provided [RCV002172160] |
Chr4:56911304 [GRCh38]
Chr4:57777470 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2019T>A (p.Ala673=) |
single nucleotide variant |
not provided [RCV002220134] |
Chr4:56930877 [GRCh38]
Chr4:57797043 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.898+15C>T |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 27 [RCV002507965]|not provided [RCV002098145] |
Chr4:56911551 [GRCh38]
Chr4:57777717 [GRCh37]
Chr4:4q12 |
benign|likely benign |
| NM_005612.5(REST):c.2502G>A (p.Glu834=) |
single nucleotide variant |
not provided [RCV002119770] |
Chr4:56931360 [GRCh38]
Chr4:57797526 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.942T>G (p.Ser314=) |
single nucleotide variant |
not provided [RCV002181468] |
Chr4:56919830 [GRCh38]
Chr4:57785996 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2934A>G (p.Ala978=) |
single nucleotide variant |
not provided [RCV002098649] |
Chr4:56931792 [GRCh38]
Chr4:57797958 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3156A>T (p.Ala1052=) |
single nucleotide variant |
not provided [RCV002179893] |
Chr4:56932014 [GRCh38]
Chr4:57798180 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.2155G>C (p.Ala719Pro) |
single nucleotide variant |
not provided [RCV002181030] |
Chr4:56931013 [GRCh38]
Chr4:57797179 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.3159C>T (p.Val1053=) |
single nucleotide variant |
not provided [RCV002160045] |
Chr4:56932017 [GRCh38]
Chr4:57798183 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2653A>G (p.Thr885Ala) |
single nucleotide variant |
not provided [RCV002163905] |
Chr4:56931511 [GRCh38]
Chr4:57797677 [GRCh37]
Chr4:4q12 |
benign |
| NM_005612.5(REST):c.459C>T (p.Ser153=) |
single nucleotide variant |
REST-related disorder [RCV003893290]|not provided [RCV002101107] |
Chr4:56911097 [GRCh38]
Chr4:57777263 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.899-19T>C |
single nucleotide variant |
not provided [RCV002098150] |
Chr4:56919768 [GRCh38]
Chr4:57785934 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1980G>A (p.Gly660=) |
single nucleotide variant |
not provided [RCV002103632] |
Chr4:56930838 [GRCh38]
Chr4:57797004 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1628A>G (p.Lys543Arg) |
single nucleotide variant |
not provided [RCV002178492] |
Chr4:56930486 [GRCh38]
Chr4:57796652 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.363T>C (p.Pro121=) |
single nucleotide variant |
not provided [RCV002199813] |
Chr4:56911001 [GRCh38]
Chr4:57777167 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.651C>T (p.Arg217=) |
single nucleotide variant |
not provided [RCV002183397] |
Chr4:56911289 [GRCh38]
Chr4:57777455 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1635G>A (p.Lys545=) |
single nucleotide variant |
not provided [RCV002203448] |
Chr4:56930493 [GRCh38]
Chr4:57796659 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2553A>C (p.Leu851=) |
single nucleotide variant |
not provided [RCV002100651] |
Chr4:56931411 [GRCh38]
Chr4:57797577 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.300A>G (p.Lys100=) |
single nucleotide variant |
not provided [RCV002217657] |
Chr4:56910938 [GRCh38]
Chr4:57777104 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2823C>T (p.Asp941=) |
single nucleotide variant |
not provided [RCV002178794] |
Chr4:56931681 [GRCh38]
Chr4:57797847 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2362G>A (p.Val788Ile) |
single nucleotide variant |
not provided [RCV003111801] |
Chr4:56931220 [GRCh38]
Chr4:57797386 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NC_000004.11:g.(?_57776805)_(57798318_?)dup |
duplication |
not provided [RCV003116402] |
Chr4:57776805..57798318 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.89T>C (p.Met30Thr) |
single nucleotide variant |
not provided [RCV003118217] |
Chr4:56910727 [GRCh38]
Chr4:57776893 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1244G>C (p.Cys415Ser) |
single nucleotide variant |
Autosomal dominant nonsyndromic hearing loss 27 [RCV002248339] |
Chr4:56930102 [GRCh38]
Chr4:57796268 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.1881G>T (p.Gln627His) |
single nucleotide variant |
Wilms tumor 6 [RCV002254843] |
Chr4:56930739 [GRCh38]
Chr4:57796905 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2254C>T (p.Pro752Ser) |
single nucleotide variant |
not provided [RCV002265412] |
Chr4:56931112 [GRCh38]
Chr4:57797278 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.858C>T (p.Asp286=) |
single nucleotide variant |
not provided [RCV002290878] |
Chr4:56911496 [GRCh38]
Chr4:57777662 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1909G>T (p.Ala637Ser) |
single nucleotide variant |
not provided [RCV002285569] |
Chr4:56930767 [GRCh38]
Chr4:57796933 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.898+189G>C |
single nucleotide variant |
not provided [RCV002260746] |
Chr4:56911725 [GRCh38]
Chr4:57777891 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.880C>T (p.His294Tyr) |
single nucleotide variant |
not provided [RCV002297168] |
Chr4:56911518 [GRCh38]
Chr4:57777684 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2441C>T (p.Pro814Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003260369]|not provided [RCV003720822] |
Chr4:56931299 [GRCh38]
Chr4:57797465 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3 |
copy number gain |
not provided [RCV002473779] |
Chr4:52685980..59272025 [GRCh37]
Chr4:4q11-12 |
uncertain significance |
| NM_005612.5(REST):c.232C>T (p.Pro78Ser) |
single nucleotide variant |
not provided [RCV002467127] |
Chr4:56910870 [GRCh38]
Chr4:57777036 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.983-277T>C |
single nucleotide variant |
not provided [RCV002469834] |
Chr4:56929564 [GRCh38]
Chr4:57795730 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.613A>C (p.Thr205Pro) |
single nucleotide variant |
not specified [RCV002470070] |
Chr4:56911251 [GRCh38]
Chr4:57777417 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1319A>T (p.Asn440Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003287559] |
Chr4:56930177 [GRCh38]
Chr4:57796343 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2583A>C (p.Ser861=) |
single nucleotide variant |
not provided [RCV002902999] |
Chr4:56931441 [GRCh38]
Chr4:57797607 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1583A>G (p.His528Arg) |
single nucleotide variant |
Wilms tumor 6 [RCV003154609] |
Chr4:56930441 [GRCh38]
Chr4:57796607 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1316A>C (p.Asp439Ala) |
single nucleotide variant |
not provided [RCV002299437] |
Chr4:56930174 [GRCh38]
Chr4:57796340 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.352G>C (p.Val118Leu) |
single nucleotide variant |
not provided [RCV002295104] |
Chr4:56910990 [GRCh38]
Chr4:57777156 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3059G>T (p.Ser1020Ile) |
single nucleotide variant |
not provided [RCV002298148] |
Chr4:56931917 [GRCh38]
Chr4:57798083 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.851_866del (p.Phe284fs) |
deletion |
not provided [RCV002685974] |
Chr4:56911489..56911504 [GRCh38]
Chr4:57777655..57777670 [GRCh37]
Chr4:4q12 |
likely pathogenic |
| NM_005612.5(REST):c.845A>G (p.Asn282Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002945746]|not provided [RCV003730323] |
Chr4:56911483 [GRCh38]
Chr4:57777649 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2694A>G (p.Gly898=) |
single nucleotide variant |
not provided [RCV002681905] |
Chr4:56931552 [GRCh38]
Chr4:57797718 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.52A>C (p.Ser18Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002858844] |
Chr4:56910690 [GRCh38]
Chr4:57776856 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2741A>G (p.Asn914Ser) |
single nucleotide variant |
not provided [RCV003095542] |
Chr4:56931599 [GRCh38]
Chr4:57797765 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2950G>A (p.Ala984Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002683201] |
Chr4:56931808 [GRCh38]
Chr4:57797974 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2944C>A (p.Arg982Ser) |
single nucleotide variant |
not provided [RCV002756310] |
Chr4:56931802 [GRCh38]
Chr4:57797968 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2330_2377del (p.Val777_Pro792del) |
deletion |
not provided [RCV002618668] |
Chr4:56931175..56931222 [GRCh38]
Chr4:57797341..57797388 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1578C>T (p.Asp526=) |
single nucleotide variant |
not provided [RCV003014053] |
Chr4:56930436 [GRCh38]
Chr4:57796602 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2277A>G (p.Glu759=) |
single nucleotide variant |
not provided [RCV003097562] |
Chr4:56931135 [GRCh38]
Chr4:57797301 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1934G>A (p.Arg645Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002688753]|not provided [RCV003720736] |
Chr4:56930792 [GRCh38]
Chr4:57796958 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.1942C>T (p.Pro648Ser) |
single nucleotide variant |
not provided [RCV002996002] |
Chr4:56930800 [GRCh38]
Chr4:57796966 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2691A>G (p.Val897=) |
single nucleotide variant |
not provided [RCV002816577] |
Chr4:56931549 [GRCh38]
Chr4:57797715 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.408A>T (p.Ser136=) |
single nucleotide variant |
not provided [RCV002615153] |
Chr4:56911046 [GRCh38]
Chr4:57777212 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1663A>G (p.Ser555Gly) |
single nucleotide variant |
not provided [RCV002839470] |
Chr4:56930521 [GRCh38]
Chr4:57796687 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2157T>C (p.Ala719=) |
single nucleotide variant |
not provided [RCV003097513] |
Chr4:56931015 [GRCh38]
Chr4:57797181 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1907A>G (p.His636Arg) |
single nucleotide variant |
not provided [RCV003095555] |
Chr4:56930765 [GRCh38]
Chr4:57796931 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.85G>A (p.Asp29Asn) |
single nucleotide variant |
not provided [RCV002615093] |
Chr4:56910723 [GRCh38]
Chr4:57776889 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2851A>C (p.Thr951Pro) |
single nucleotide variant |
not provided [RCV002970742] |
Chr4:56931709 [GRCh38]
Chr4:57797875 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3181G>A (p.Val1061Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002882685] |
Chr4:56932039 [GRCh38]
Chr4:57798205 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3123A>G (p.Glu1041=) |
single nucleotide variant |
not provided [RCV002756048] |
Chr4:56931981 [GRCh38]
Chr4:57798147 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.983-13_983-10del |
deletion |
not provided [RCV002825283] |
Chr4:56929826..56929829 [GRCh38]
Chr4:57795992..57795995 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.983-7C>T |
single nucleotide variant |
not provided [RCV002780482] |
Chr4:56929834 [GRCh38]
Chr4:57796000 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2926C>A (p.Pro976Thr) |
single nucleotide variant |
not provided [RCV002619253] |
Chr4:56931784 [GRCh38]
Chr4:57797950 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1478G>A (p.Arg493Gln) |
single nucleotide variant |
not provided [RCV002785838] |
Chr4:56930336 [GRCh38]
Chr4:57796502 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2337G>A (p.Met779Ile) |
single nucleotide variant |
not provided [RCV002623263] |
Chr4:56931195 [GRCh38]
Chr4:57797361 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2413C>T (p.Leu805Phe) |
single nucleotide variant |
not provided [RCV002780962] |
Chr4:56931271 [GRCh38]
Chr4:57797437 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2670_2673del (p.Glu891fs) |
deletion |
not provided [RCV002760817] |
Chr4:56931526..56931529 [GRCh38]
Chr4:57797692..57797695 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.348C>T (p.Leu116=) |
single nucleotide variant |
not provided [RCV002756865] |
Chr4:56910986 [GRCh38]
Chr4:57777152 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2241A>G (p.Ile747Met) |
single nucleotide variant |
not provided [RCV003100675] |
Chr4:56931099 [GRCh38]
Chr4:57797265 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1639G>A (p.Val547Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002869055] |
Chr4:56930497 [GRCh38]
Chr4:57796663 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2745A>G (p.Glu915=) |
single nucleotide variant |
not provided [RCV002621031] |
Chr4:56931603 [GRCh38]
Chr4:57797769 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2866A>G (p.Arg956Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002948965]|not provided [RCV002948964] |
Chr4:56931724 [GRCh38]
Chr4:57797890 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.391C>A (p.Pro131Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002737827] |
Chr4:56911029 [GRCh38]
Chr4:57777195 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3239A>G (p.Asn1080Ser) |
single nucleotide variant |
REST-related disorder [RCV003420355]|not provided [RCV002591429] |
Chr4:56932097 [GRCh38]
Chr4:57798263 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1261G>A (p.Asp421Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002660197] |
Chr4:56930119 [GRCh38]
Chr4:57796285 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1905G>A (p.Glu635=) |
single nucleotide variant |
not provided [RCV002591714] |
Chr4:56930763 [GRCh38]
Chr4:57796929 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2819C>T (p.Thr940Ile) |
single nucleotide variant |
not provided [RCV003080503] |
Chr4:56931677 [GRCh38]
Chr4:57797843 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2307_2354del (p.Ile769_Pro784del) |
deletion |
not provided [RCV002620322] |
Chr4:56931152..56931199 [GRCh38]
Chr4:57797318..57797365 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2439G>A (p.Lys813=) |
single nucleotide variant |
not provided [RCV002639715] |
Chr4:56931297 [GRCh38]
Chr4:57797463 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2422G>A (p.Glu808Lys) |
single nucleotide variant |
not provided [RCV002592740] |
Chr4:56931280 [GRCh38]
Chr4:57797446 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.266A>G (p.Glu89Gly) |
single nucleotide variant |
not provided [RCV002591393] |
Chr4:56910904 [GRCh38]
Chr4:57777070 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1162C>T (p.Gln388Ter) |
single nucleotide variant |
not provided [RCV002847891] |
Chr4:56930020 [GRCh38]
Chr4:57796186 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1705A>G (p.Lys569Glu) |
single nucleotide variant |
not provided [RCV002592087] |
Chr4:56930563 [GRCh38]
Chr4:57796729 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2753A>G (p.His918Arg) |
single nucleotide variant |
not provided [RCV002622272] |
Chr4:56931611 [GRCh38]
Chr4:57797777 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2851A>G (p.Thr951Ala) |
single nucleotide variant |
not provided [RCV002975699] |
Chr4:56931709 [GRCh38]
Chr4:57797875 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.214C>A (p.Gln72Lys) |
single nucleotide variant |
not provided [RCV003080853] |
Chr4:56910852 [GRCh38]
Chr4:57777018 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1793_1837del (p.Lys598_Gln612del) |
deletion |
not provided [RCV002852984] |
Chr4:56930641..56930685 [GRCh38]
Chr4:57796807..57796851 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.171A>G (p.Glu57=) |
single nucleotide variant |
not provided [RCV003084886] |
Chr4:56910809 [GRCh38]
Chr4:57776975 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.2633G>T (p.Gly878Val) |
single nucleotide variant |
not provided [RCV003059384] |
Chr4:56931491 [GRCh38]
Chr4:57797657 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2649C>G (p.Leu883=) |
single nucleotide variant |
not provided [RCV003084915] |
Chr4:56931507 [GRCh38]
Chr4:57797673 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1251T>G (p.Asn417Lys) |
single nucleotide variant |
not provided [RCV002802078] |
Chr4:56930109 [GRCh38]
Chr4:57796275 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.136C>G (p.Leu46Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002873680] |
Chr4:56910774 [GRCh38]
Chr4:57776940 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1240A>G (p.Thr414Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002623931]|not provided [RCV002607930] |
Chr4:56930098 [GRCh38]
Chr4:57796264 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2053A>G (p.Met685Val) |
single nucleotide variant |
not provided [RCV002595746] |
Chr4:56930911 [GRCh38]
Chr4:57797077 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1597C>T (p.Pro533Ser) |
single nucleotide variant |
not provided [RCV002801756] |
Chr4:56930455 [GRCh38]
Chr4:57796621 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2229G>T (p.Glu743Asp) |
single nucleotide variant |
not provided [RCV002710457] |
Chr4:56931087 [GRCh38]
Chr4:57797253 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2677C>G (p.Pro893Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002767976] |
Chr4:56931535 [GRCh38]
Chr4:57797701 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1396G>A (p.Val466Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004073371]|not provided [RCV002574647] |
Chr4:56930254 [GRCh38]
Chr4:57796420 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1095C>G (p.His365Gln) |
single nucleotide variant |
not provided [RCV002825680] |
Chr4:56929953 [GRCh38]
Chr4:57796119 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.157G>T (p.Ala53Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002802478] |
Chr4:56910795 [GRCh38]
Chr4:57776961 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1777A>G (p.Ser593Gly) |
single nucleotide variant |
not provided [RCV003085243] |
Chr4:56930635 [GRCh38]
Chr4:57796801 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2140G>C (p.Ala714Pro) |
single nucleotide variant |
not provided [RCV002745420] |
Chr4:56930998 [GRCh38]
Chr4:57797164 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1586C>G (p.Ser529Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002892776] |
Chr4:56930444 [GRCh38]
Chr4:57796610 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2087_2131del (p.Thr696_Gln710del) |
deletion |
not provided [RCV002575929] |
Chr4:56930936..56930980 [GRCh38]
Chr4:57797102..57797146 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2024T>C (p.Met675Thr) |
single nucleotide variant |
not provided [RCV003084747] |
Chr4:56930882 [GRCh38]
Chr4:57797048 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1458C>T (p.Ile486=) |
single nucleotide variant |
REST-related disorder [RCV003898561]|not provided [RCV002894598] |
Chr4:56930316 [GRCh38]
Chr4:57796482 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2183C>G (p.Pro728Arg) |
single nucleotide variant |
not provided [RCV002786243] |
Chr4:56931041 [GRCh38]
Chr4:57797207 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2007C>T (p.Pro669=) |
single nucleotide variant |
not provided [RCV002581964] |
Chr4:56930865 [GRCh38]
Chr4:57797031 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2147T>C (p.Val716Ala) |
single nucleotide variant |
not provided [RCV003087244] |
Chr4:56931005 [GRCh38]
Chr4:57797171 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.613A>G (p.Thr205Ala) |
single nucleotide variant |
not provided [RCV003086872] |
Chr4:56911251 [GRCh38]
Chr4:57777417 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2994A>G (p.Ala998=) |
single nucleotide variant |
not provided [RCV002671520] |
Chr4:56931852 [GRCh38]
Chr4:57798018 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.293A>G (p.Asp98Gly) |
single nucleotide variant |
not provided [RCV002632571] |
Chr4:56910931 [GRCh38]
Chr4:57777097 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2551C>T (p.Leu851=) |
single nucleotide variant |
not provided [RCV002600676] |
Chr4:56931409 [GRCh38]
Chr4:57797575 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2398C>T (p.Pro800Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004071629]|not provided [RCV003065532] |
Chr4:56931256 [GRCh38]
Chr4:57797422 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2373G>C (p.Glu791Asp) |
single nucleotide variant |
not provided [RCV003086893] |
Chr4:56931231 [GRCh38]
Chr4:57797397 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.608C>G (p.Ser203Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002598884]|not provided [RCV002598883] |
Chr4:56911246 [GRCh38]
Chr4:57777412 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2125G>C (p.Ala709Pro) |
single nucleotide variant |
not provided [RCV002921941] |
Chr4:56930983 [GRCh38]
Chr4:57797149 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2586A>T (p.Pro862=) |
single nucleotide variant |
not provided [RCV002898744] |
Chr4:56931444 [GRCh38]
Chr4:57797610 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1391A>G (p.Lys464Arg) |
single nucleotide variant |
not provided [RCV002599491] |
Chr4:56930249 [GRCh38]
Chr4:57796415 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.675T>C (p.Thr225=) |
single nucleotide variant |
not provided [RCV003087257] |
Chr4:56911313 [GRCh38]
Chr4:57777479 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2233G>C (p.Val745Leu) |
single nucleotide variant |
not provided [RCV003090554] |
Chr4:56931091 [GRCh38]
Chr4:57797257 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2966C>T (p.Ala989Val) |
single nucleotide variant |
not provided [RCV002579987] |
Chr4:56931824 [GRCh38]
Chr4:57797990 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1474A>T (p.Thr492Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002673735] |
Chr4:56930332 [GRCh38]
Chr4:57796498 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2086A>G (p.Thr696Ala) |
single nucleotide variant |
not provided [RCV002580187] |
Chr4:56930944 [GRCh38]
Chr4:57797110 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2945G>T (p.Arg982Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004073364]|not provided [RCV002598574] |
Chr4:56931803 [GRCh38]
Chr4:57797969 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2258_2259insAGAGGTGGTCCAGAAGGAGCCTGTTCAGATGGAGTTGTCTCCTCCCAT (p.Pro752_Met753insIleGluValValGlnLysGluProValGlnMetGluLeuSerProPro) |
insertion |
not provided [RCV002671326] |
Chr4:56931103..56931104 [GRCh38]
Chr4:57797269..57797270 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1932A>G (p.Ile644Met) |
single nucleotide variant |
not provided [RCV002720880] |
Chr4:56930790 [GRCh38]
Chr4:57796956 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.75C>T (p.Ala25=) |
single nucleotide variant |
not provided [RCV002599176] |
Chr4:56910713 [GRCh38]
Chr4:57776879 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2540A>G (p.Asp847Gly) |
single nucleotide variant |
not provided [RCV002603129] |
Chr4:56931398 [GRCh38]
Chr4:57797564 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2092G>A (p.Val698Ile) |
single nucleotide variant |
not provided [RCV002587737] |
Chr4:56930950 [GRCh38]
Chr4:57797116 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2742C>T (p.Asn914=) |
single nucleotide variant |
not provided [RCV002610109] |
Chr4:56931600 [GRCh38]
Chr4:57797766 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2168T>C (p.Val723Ala) |
single nucleotide variant |
not provided [RCV002721828] |
Chr4:56931026 [GRCh38]
Chr4:57797192 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1937C>G (p.Pro646Arg) |
single nucleotide variant |
not provided [RCV002582220] |
Chr4:56930795 [GRCh38]
Chr4:57796961 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.315A>C (p.Gly105=) |
single nucleotide variant |
not provided [RCV002606149] |
Chr4:56910953 [GRCh38]
Chr4:57777119 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2364T>C (p.Val788=) |
single nucleotide variant |
not provided [RCV002587320] |
Chr4:56931222 [GRCh38]
Chr4:57797388 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.423C>T (p.Pro141=) |
single nucleotide variant |
not provided [RCV002588374] |
Chr4:56911061 [GRCh38]
Chr4:57777227 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3149_3150delinsTG (p.Ala1050Val) |
indel |
not provided [RCV002611315] |
Chr4:56932007..56932008 [GRCh38]
Chr4:57798173..57798174 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.290C>T (p.Ala97Val) |
single nucleotide variant |
not provided [RCV002611527] |
Chr4:56910928 [GRCh38]
Chr4:57777094 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1579A>G (p.Ser527Gly) |
single nucleotide variant |
not provided [RCV003093032] |
Chr4:56930437 [GRCh38]
Chr4:57796603 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1523G>A (p.Ser508Asn) |
single nucleotide variant |
not provided [RCV002608160] |
Chr4:56930381 [GRCh38]
Chr4:57796547 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2720C>G (p.Pro907Arg) |
single nucleotide variant |
not provided [RCV002589421] |
Chr4:56931578 [GRCh38]
Chr4:57797744 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.386G>T (p.Gly129Val) |
single nucleotide variant |
not provided [RCV002610226] |
Chr4:56911024 [GRCh38]
Chr4:57777190 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1882G>A (p.Val628Met) |
single nucleotide variant |
Wilms tumor 6 [RCV003154577] |
Chr4:56930740 [GRCh38]
Chr4:57796906 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1701G>C (p.Glu567Asp) |
single nucleotide variant |
Wilms tumor 6 [RCV003154584] |
Chr4:56930559 [GRCh38]
Chr4:57796725 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1367A>G (p.Asp456Gly) |
single nucleotide variant |
Wilms tumor 6 [RCV003154611] |
Chr4:56930225 [GRCh38]
Chr4:57796391 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1786C>T (p.Pro596Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003210563]|not provided [RCV003730467] |
Chr4:56930644 [GRCh38]
Chr4:57796810 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1613A>T (p.Glu538Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003281503] |
Chr4:56930471 [GRCh38]
Chr4:57796637 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3054C>A (p.Asp1018Glu) |
single nucleotide variant |
not provided [RCV003223163] |
Chr4:56931912 [GRCh38]
Chr4:57798078 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1322T>C (p.Ile441Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003287560] |
Chr4:56930180 [GRCh38]
Chr4:57796346 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 |
copy number gain |
Neurodevelopmental disorder [RCV003327613] |
Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12 |
pathogenic |
| NM_005612.5(REST):c.2906C>G (p.Pro969Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003357924] |
Chr4:56931764 [GRCh38]
Chr4:57797930 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.908del (p.Pro303fs) |
deletion |
REST-related disorder [RCV003419016] |
Chr4:56919794 [GRCh38]
Chr4:57785960 [GRCh37]
Chr4:4q12 |
likely pathogenic |
| NM_005612.5(REST):c.440C>T (p.Ala147Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003367568] |
Chr4:56911078 [GRCh38]
Chr4:57777244 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4q12-13.3(chr4:57584845-72430996)x1 |
copy number loss |
not provided [RCV003485417] |
Chr4:57584845..72430996 [GRCh37]
Chr4:4q12-13.3 |
pathogenic |
| NM_005612.5(REST):c.1246C>G (p.Pro416Ala) |
single nucleotide variant |
not provided [RCV003873879] |
Chr4:56930104 [GRCh38]
Chr4:57796270 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2045T>C (p.Leu682Pro) |
single nucleotide variant |
not provided [RCV003873821] |
Chr4:56930903 [GRCh38]
Chr4:57797069 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3291G>C (p.Glu1097Asp) |
single nucleotide variant |
not provided [RCV003570410] |
Chr4:56932149 [GRCh38]
Chr4:57798315 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2048C>T (p.Ala683Val) |
single nucleotide variant |
not provided [RCV003873923] |
Chr4:56930906 [GRCh38]
Chr4:57797072 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.730A>G (p.Asn244Asp) |
single nucleotide variant |
not provided [RCV003874486] |
Chr4:56911368 [GRCh38]
Chr4:57777534 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1685A>G (p.Asp562Gly) |
single nucleotide variant |
not provided [RCV003570745] |
Chr4:56930543 [GRCh38]
Chr4:57796709 [GRCh37]
Chr4:4q12 |
uncertain significance |
| GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1 |
copy number loss |
not provided [RCV003485416] |
Chr4:52685685..61903883 [GRCh37]
Chr4:4q11-13.1 |
pathogenic |
| NM_005612.5(REST):c.576A>G (p.Ala192=) |
single nucleotide variant |
not provided [RCV003873237] |
Chr4:56911214 [GRCh38]
Chr4:57777380 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.764del (p.Tyr255fs) |
deletion |
REST-related disorder [RCV003406182] |
Chr4:56911402 [GRCh38]
Chr4:57777568 [GRCh37]
Chr4:4q12 |
likely pathogenic |
| NM_005612.5(REST):c.1591C>T (p.His531Tyr) |
single nucleotide variant |
not provided [RCV003439323] |
Chr4:56930449 [GRCh38]
Chr4:57796615 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.831A>T (p.Thr277=) |
single nucleotide variant |
not provided [RCV003439321] |
Chr4:56911469 [GRCh38]
Chr4:57777635 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.843C>G (p.Cys281Trp) |
single nucleotide variant |
REST-related disorder [RCV003391579] |
Chr4:56911481 [GRCh38]
Chr4:57777647 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.533T>A (p.Ile178Asn) |
single nucleotide variant |
REST-related disorder [RCV003404551] |
Chr4:56911171 [GRCh38]
Chr4:57777337 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2374C>T (p.Pro792Ser) |
single nucleotide variant |
REST-related disorder [RCV003404580] |
Chr4:56931232 [GRCh38]
Chr4:57797398 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.380C>T (p.Ala127Val) |
single nucleotide variant |
REST-related disorder [RCV003397287] |
Chr4:56911018 [GRCh38]
Chr4:57777184 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.68G>A (p.Gly23Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004362805]|REST-related disorder [RCV003414243]|not provided [RCV003720890] |
Chr4:56910706 [GRCh38]
Chr4:57776872 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2945G>A (p.Arg982His) |
single nucleotide variant |
REST-related disorder [RCV003397620]|not provided [RCV003720894] |
Chr4:56931803 [GRCh38]
Chr4:57797969 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2164_2211del (p.Gln722_Met737del) |
deletion |
REST-related disorder [RCV003410424]|not provided [RCV003720902] |
Chr4:56931014..56931061 [GRCh38]
Chr4:57797180..57797227 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1355A>G (p.Lys452Arg) |
single nucleotide variant |
not provided [RCV003439322] |
Chr4:56930213 [GRCh38]
Chr4:57796379 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2925C>T (p.Pro975=) |
single nucleotide variant |
not provided [RCV003876712] |
Chr4:56931783 [GRCh38]
Chr4:57797949 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1416T>A (p.Asp472Glu) |
single nucleotide variant |
not provided [RCV003577536] |
Chr4:56930274 [GRCh38]
Chr4:57796440 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.611C>G (p.Ser204Cys) |
single nucleotide variant |
not provided [RCV003579537] |
Chr4:56911249 [GRCh38]
Chr4:57777415 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.52A>G (p.Ser18Gly) |
single nucleotide variant |
not provided [RCV003830899] |
Chr4:56910690 [GRCh38]
Chr4:57776856 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2627C>T (p.Ala876Val) |
single nucleotide variant |
not provided [RCV003689577] |
Chr4:56931485 [GRCh38]
Chr4:57797651 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.919G>C (p.Glu307Gln) |
single nucleotide variant |
not provided [RCV003880457] |
Chr4:56919807 [GRCh38]
Chr4:57785973 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3230A>G (p.Lys1077Arg) |
single nucleotide variant |
not provided [RCV003828778] |
Chr4:56932088 [GRCh38]
Chr4:57798254 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2609A>G (p.Glu870Gly) |
single nucleotide variant |
not provided [RCV003686661] |
Chr4:56931467 [GRCh38]
Chr4:57797633 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.983-7C>G |
single nucleotide variant |
not provided [RCV003576234] |
Chr4:56929834 [GRCh38]
Chr4:57796000 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.616G>C (p.Ala206Pro) |
single nucleotide variant |
not provided [RCV003825090] |
Chr4:56911254 [GRCh38]
Chr4:57777420 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3134A>G (p.Lys1045Arg) |
single nucleotide variant |
not provided [RCV003715571] |
Chr4:56931992 [GRCh38]
Chr4:57798158 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.830_831del (p.Thr277fs) |
microsatellite |
not provided [RCV003577618] |
Chr4:56911465..56911466 [GRCh38]
Chr4:57777631..57777632 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.2484_2485dup (p.Glu829fs) |
duplication |
not provided [RCV003573870] |
Chr4:56931340..56931341 [GRCh38]
Chr4:57797506..57797507 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2725C>G (p.Leu909Val) |
single nucleotide variant |
not provided [RCV003691768] |
Chr4:56931583 [GRCh38]
Chr4:57797749 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2095G>T (p.Ala699Ser) |
single nucleotide variant |
not provided [RCV003878494] |
Chr4:56930953 [GRCh38]
Chr4:57797119 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1651T>C (p.Ser551Pro) |
single nucleotide variant |
not provided [RCV003876640] |
Chr4:56930509 [GRCh38]
Chr4:57796675 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1423A>G (p.Lys475Glu) |
single nucleotide variant |
not provided [RCV003878788] |
Chr4:56930281 [GRCh38]
Chr4:57796447 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.370G>C (p.Val124Leu) |
single nucleotide variant |
not provided [RCV003717917] |
Chr4:56911008 [GRCh38]
Chr4:57777174 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1869G>A (p.Lys623=) |
single nucleotide variant |
REST-related disorder [RCV003939164]|not provided [RCV003717387] |
Chr4:56930727 [GRCh38]
Chr4:57796893 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.387T>C (p.Gly129=) |
single nucleotide variant |
not provided [RCV003549465] |
Chr4:56911025 [GRCh38]
Chr4:57777191 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1566G>A (p.Lys522=) |
single nucleotide variant |
not provided [RCV003840228] |
Chr4:56930424 [GRCh38]
Chr4:57796590 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.201C>A (p.Val67=) |
single nucleotide variant |
not provided [RCV003725004] |
Chr4:56910839 [GRCh38]
Chr4:57777005 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3033C>T (p.Ile1011=) |
single nucleotide variant |
not provided [RCV003725797] |
Chr4:56931891 [GRCh38]
Chr4:57798057 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2235T>G (p.Val745=) |
single nucleotide variant |
not provided [RCV003702165] |
Chr4:56931093 [GRCh38]
Chr4:57797259 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1160G>A (p.Arg387Gln) |
single nucleotide variant |
not provided [RCV003669510] |
Chr4:56930018 [GRCh38]
Chr4:57796184 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1921G>A (p.Gly641Ser) |
single nucleotide variant |
not provided [RCV003718031] |
Chr4:56930779 [GRCh38]
Chr4:57796945 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.62A>G (p.Asn21Ser) |
single nucleotide variant |
not provided [RCV003703430] |
Chr4:56910700 [GRCh38]
Chr4:57776866 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.307C>A (p.Pro103Thr) |
single nucleotide variant |
not provided [RCV003725312] |
Chr4:56910945 [GRCh38]
Chr4:57777111 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1197C>G (p.Ser399=) |
single nucleotide variant |
not provided [RCV003724287] |
Chr4:56930055 [GRCh38]
Chr4:57796221 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1454T>C (p.Val485Ala) |
single nucleotide variant |
not provided [RCV003725682] |
Chr4:56930312 [GRCh38]
Chr4:57796478 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.760A>T (p.Thr254Ser) |
single nucleotide variant |
not provided [RCV003814963] |
Chr4:56911398 [GRCh38]
Chr4:57777564 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.151A>G (p.Asn51Asp) |
single nucleotide variant |
not provided [RCV003659413] |
Chr4:56910789 [GRCh38]
Chr4:57776955 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2742C>G (p.Asn914Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004373968]|not provided [RCV003724370] |
Chr4:56931600 [GRCh38]
Chr4:57797766 [GRCh37]
Chr4:4q12 |
likely benign|uncertain significance |
| NM_005612.5(REST):c.1696G>A (p.Glu566Lys) |
single nucleotide variant |
not provided [RCV003723581] |
Chr4:56930554 [GRCh38]
Chr4:57796720 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1514A>T (p.His505Leu) |
single nucleotide variant |
not provided [RCV003723630] |
Chr4:56930372 [GRCh38]
Chr4:57796538 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1784C>T (p.Pro595Leu) |
single nucleotide variant |
not provided [RCV003561736] |
Chr4:56930642 [GRCh38]
Chr4:57796808 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.296T>G (p.Ile99Arg) |
single nucleotide variant |
not provided [RCV003724119] |
Chr4:56910934 [GRCh38]
Chr4:57777100 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2029G>C (p.Gly677Arg) |
single nucleotide variant |
not provided [RCV003816071] |
Chr4:56930887 [GRCh38]
Chr4:57797053 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2576A>T (p.Asp859Val) |
single nucleotide variant |
not provided [RCV003717674] |
Chr4:56931434 [GRCh38]
Chr4:57797600 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2579T>A (p.Leu860His) |
single nucleotide variant |
not provided [RCV003724503] |
Chr4:56931437 [GRCh38]
Chr4:57797603 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2193G>A (p.Met731Ile) |
single nucleotide variant |
not provided [RCV003724719] |
Chr4:56931051 [GRCh38]
Chr4:57797217 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2924C>A (p.Pro975His) |
single nucleotide variant |
not provided [RCV003725041] |
Chr4:56931782 [GRCh38]
Chr4:57797948 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.216G>T (p.Gln72His) |
single nucleotide variant |
not provided [RCV003669026] |
Chr4:56910854 [GRCh38]
Chr4:57777020 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1271A>C (p.Lys424Thr) |
single nucleotide variant |
not provided [RCV003724118] |
Chr4:56930129 [GRCh38]
Chr4:57796295 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.868A>C (p.Asn290His) |
single nucleotide variant |
not provided [RCV003700234] |
Chr4:56911506 [GRCh38]
Chr4:57777672 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.744C>T (p.Tyr248=) |
single nucleotide variant |
not provided [RCV003724855] |
Chr4:56911382 [GRCh38]
Chr4:57777548 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.975T>A (p.Thr325=) |
single nucleotide variant |
not provided [RCV003725506] |
Chr4:56919863 [GRCh38]
Chr4:57786029 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.983-1G>A |
single nucleotide variant |
not provided [RCV003813887] |
Chr4:56929840 [GRCh38]
Chr4:57796006 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2677C>T (p.Pro893Ser) |
single nucleotide variant |
not provided [RCV003734448] |
Chr4:56931535 [GRCh38]
Chr4:57797701 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2174A>G (p.Gln725Arg) |
single nucleotide variant |
not provided [RCV003818729] |
Chr4:56931032 [GRCh38]
Chr4:57797198 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.982+10A>C |
single nucleotide variant |
not provided [RCV003727509] |
Chr4:56919880 [GRCh38]
Chr4:57786046 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1524C>T (p.Ser508=) |
single nucleotide variant |
not provided [RCV003703913] |
Chr4:56930382 [GRCh38]
Chr4:57796548 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2396C>A (p.Pro799His) |
single nucleotide variant |
not provided [RCV003563168] |
Chr4:56931254 [GRCh38]
Chr4:57797420 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2390_2391inv (p.Pro797Leu) |
inversion |
not provided [RCV003728462] |
Chr4:56931248..56931249 [GRCh38]
Chr4:57797414..57797415 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2893A>G (p.Thr965Ala) |
single nucleotide variant |
not provided [RCV003736051] |
Chr4:56931751 [GRCh38]
Chr4:57797917 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1529C>T (p.Ser510Leu) |
single nucleotide variant |
not provided [RCV003676034] |
Chr4:56930387 [GRCh38]
Chr4:57796553 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.101A>G (p.His34Arg) |
single nucleotide variant |
not provided [RCV003733264] |
Chr4:56910739 [GRCh38]
Chr4:57776905 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1592A>G (p.His531Arg) |
single nucleotide variant |
not provided [RCV003859482] |
Chr4:56930450 [GRCh38]
Chr4:57796616 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2936T>C (p.Val979Ala) |
single nucleotide variant |
not provided [RCV003733347] |
Chr4:56931794 [GRCh38]
Chr4:57797960 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.322A>G (p.Asn108Asp) |
single nucleotide variant |
not provided [RCV003553373] |
Chr4:56910960 [GRCh38]
Chr4:57777126 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2155G>A (p.Ala719Thr) |
single nucleotide variant |
not provided [RCV003869244] |
Chr4:56931013 [GRCh38]
Chr4:57797179 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3143A>G (p.Lys1048Arg) |
single nucleotide variant |
not provided [RCV003720298] |
Chr4:56932001 [GRCh38]
Chr4:57798167 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2875C>T (p.Leu959Phe) |
single nucleotide variant |
not provided [RCV003729552] |
Chr4:56931733 [GRCh38]
Chr4:57797899 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1158A>T (p.Pro386=) |
single nucleotide variant |
not provided [RCV003731148] |
Chr4:56930016 [GRCh38]
Chr4:57796182 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2228A>T (p.Glu743Val) |
single nucleotide variant |
not provided [RCV003722323] |
Chr4:56931086 [GRCh38]
Chr4:57797252 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2006C>A (p.Pro669His) |
single nucleotide variant |
not provided [RCV003555808] |
Chr4:56930864 [GRCh38]
Chr4:57797030 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1641A>G (p.Val547=) |
single nucleotide variant |
not provided [RCV003731386] |
Chr4:56930499 [GRCh38]
Chr4:57796665 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1398C>T (p.Val466=) |
single nucleotide variant |
not provided [RCV003729894] |
Chr4:56930256 [GRCh38]
Chr4:57796422 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1836G>C (p.Gln612His) |
single nucleotide variant |
not provided [RCV003722706] |
Chr4:56930694 [GRCh38]
Chr4:57796860 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.289G>A (p.Ala97Thr) |
single nucleotide variant |
not provided [RCV003732085] |
Chr4:56910927 [GRCh38]
Chr4:57777093 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1835A>G (p.Gln612Arg) |
single nucleotide variant |
not provided [RCV003872135] |
Chr4:56930693 [GRCh38]
Chr4:57796859 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.413A>G (p.Lys138Arg) |
single nucleotide variant |
not provided [RCV003719890] |
Chr4:56911051 [GRCh38]
Chr4:57777217 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.685_687dup (p.Asp229_His230insAsp) |
duplication |
not provided [RCV003557044] |
Chr4:56911320..56911321 [GRCh38]
Chr4:57777486..57777487 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1477C>T (p.Arg493Ter) |
single nucleotide variant |
not provided [RCV003722151] |
Chr4:56930335 [GRCh38]
Chr4:57796501 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1137T>C (p.His379=) |
single nucleotide variant |
not provided [RCV003720367] |
Chr4:56929995 [GRCh38]
Chr4:57796161 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2897T>G (p.Val966Gly) |
single nucleotide variant |
not provided [RCV003723017] |
Chr4:56931755 [GRCh38]
Chr4:57797921 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3106C>T (p.Arg1036Trp) |
single nucleotide variant |
not provided [RCV003738576] |
Chr4:56931964 [GRCh38]
Chr4:57798130 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2490G>T (p.Arg830Ser) |
single nucleotide variant |
not provided [RCV003733557] |
Chr4:56931348 [GRCh38]
Chr4:57797514 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3284G>A (p.Gly1095Glu) |
single nucleotide variant |
not provided [RCV003858721] |
Chr4:56932142 [GRCh38]
Chr4:57798308 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1316A>G (p.Asp439Gly) |
single nucleotide variant |
not provided [RCV003870875] |
Chr4:56930174 [GRCh38]
Chr4:57796340 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1872G>T (p.Gly624=) |
single nucleotide variant |
not provided [RCV003685656] |
Chr4:56930730 [GRCh38]
Chr4:57796896 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2302C>T (p.Pro768Ser) |
single nucleotide variant |
not provided [RCV003677952] |
Chr4:56931160 [GRCh38]
Chr4:57797326 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2927del (p.Pro976fs) |
deletion |
not provided [RCV003711199] |
Chr4:56931781 [GRCh38]
Chr4:57797947 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2034C>A (p.Ala678=) |
single nucleotide variant |
not provided [RCV003567126] |
Chr4:56930892 [GRCh38]
Chr4:57797058 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.983-13G>A |
single nucleotide variant |
not provided [RCV003733657] |
Chr4:56929828 [GRCh38]
Chr4:57795994 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.412A>G (p.Lys138Glu) |
single nucleotide variant |
not provided [RCV003556942] |
Chr4:56911050 [GRCh38]
Chr4:57777216 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1116T>C (p.Asp372=) |
single nucleotide variant |
not provided [RCV003731128] |
Chr4:56929974 [GRCh38]
Chr4:57796140 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2200T>A (p.Ser734Thr) |
single nucleotide variant |
not provided [RCV003728515] |
Chr4:56931058 [GRCh38]
Chr4:57797224 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.968T>C (p.Met323Thr) |
single nucleotide variant |
not provided [RCV003728458] |
Chr4:56919856 [GRCh38]
Chr4:57786022 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.898+12T>A |
single nucleotide variant |
not provided [RCV003866184] |
Chr4:56911548 [GRCh38]
Chr4:57777714 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1986T>G (p.Ala662=) |
single nucleotide variant |
not provided [RCV003730972] |
Chr4:56930844 [GRCh38]
Chr4:57797010 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.177_181del (p.Asn59fs) |
deletion |
not provided [RCV003552207] |
Chr4:56910814..56910818 [GRCh38]
Chr4:57776980..57776984 [GRCh37]
Chr4:4q12 |
pathogenic |
| NM_005612.5(REST):c.264A>G (p.Glu88=) |
single nucleotide variant |
not provided [RCV003731836] |
Chr4:56910902 [GRCh38]
Chr4:57777068 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.898+3A>G |
single nucleotide variant |
not provided [RCV003861494] |
Chr4:56911539 [GRCh38]
Chr4:57777705 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1930_2145del (p.Ile644_Gln715del) |
deletion |
not provided [RCV003706777] |
Chr4:56930781..56930996 [GRCh38]
Chr4:57796947..57797162 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2209A>T (p.Met737Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004446023] |
Chr4:56931067 [GRCh38]
Chr4:57797233 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2340G>A (p.Glu780=) |
single nucleotide variant |
REST-related disorder [RCV003896892] |
Chr4:56931198 [GRCh38]
Chr4:57797364 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.87C>A (p.Asp29Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004446026] |
Chr4:56910725 [GRCh38]
Chr4:57776891 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2532T>C (p.Pro844=) |
single nucleotide variant |
REST-related disorder [RCV003982427] |
Chr4:56931390 [GRCh38]
Chr4:57797556 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.3287A>G (p.Gln1096Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004446024] |
Chr4:56932145 [GRCh38]
Chr4:57798311 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.3234C>T (p.His1078=) |
single nucleotide variant |
REST-related disorder [RCV003942079] |
Chr4:56932092 [GRCh38]
Chr4:57798258 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.1170T>A (p.Asn390Lys) |
single nucleotide variant |
REST-related disorder [RCV003942118] |
Chr4:56930028 [GRCh38]
Chr4:57796194 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.2088G>A (p.Thr696=) |
single nucleotide variant |
REST-related disorder [RCV003904500] |
Chr4:56930946 [GRCh38]
Chr4:57797112 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.983-2245A>G |
single nucleotide variant |
REST-related disorder [RCV003901357] |
Chr4:56927596 [GRCh38]
Chr4:57793762 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.385G>A (p.Gly129Ser) |
single nucleotide variant |
not provided [RCV003886272] |
Chr4:56911023 [GRCh38]
Chr4:57777189 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.131C>G (p.Pro44Arg) |
single nucleotide variant |
REST-related disorder [RCV003911506] |
Chr4:56910769 [GRCh38]
Chr4:57776935 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NM_005612.5(REST):c.1374T>C (p.Ala458=) |
single nucleotide variant |
REST-related disorder [RCV003964393] |
Chr4:56930232 [GRCh38]
Chr4:57796398 [GRCh37]
Chr4:4q12 |
likely benign |
| NM_005612.5(REST):c.2115C>G (p.Pro705=) |
single nucleotide variant |
REST-related disorder [RCV003982601] |
Chr4:56930973 [GRCh38]
Chr4:57797139 [GRCh37]
Chr4:4q12 |
likely benign |
| GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2 |
pathogenic |
| NC_000004.11:g.(?_57785933)_(57793760_?)del |
deletion |
not provided [RCV004580843] |
Chr4:57785933..57793760 [GRCh37] |
uncertain significance |
| NC_000004.11:g.(?_57795997)_(57798318_?)dup |
duplication |
not provided [RCV004580844] |
Chr4:57795997..57798318 [GRCh37] |
uncertain significance |
| NM_005612.5(REST):c.604G>T (p.Gly202Cys) |
single nucleotide variant |
not provided [RCV004575276] |
Chr4:56911242 [GRCh38]
Chr4:57777408 [GRCh37]
Chr4:4q12 |
uncertain significance |
| NC_000004.11:g.(?_55124936)_(57786056_?)del |
deletion |
Gastrointestinal stromal tumor [RCV004580693] |
Chr4:55124936..57786056 [GRCh37] |
pathogenic |
