NM_001113348.2(ECE1):c.4-596C>A |
single nucleotide variant |
Hypertension, essential, susceptibility to [RCV000009705] |
Chr1:21290752 [GRCh38] Chr1:21617245 [GRCh37] Chr1:1p36.12 |
risk factor |
NM_001113348.2(ECE1):c.4-1097T>G |
single nucleotide variant |
Hypertension, essential, susceptibility to [RCV000009706] |
Chr1:21291253 [GRCh38] Chr1:21617746 [GRCh37] Chr1:1p36.12 |
risk factor |
NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys) |
single nucleotide variant |
Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV000009704] |
Chr1:21220008 [GRCh38] Chr1:21546501 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_001113348.1(ECE1):c.3+14170C>T |
single nucleotide variant |
Lung cancer [RCV000090476] |
Chr1:21331206 [GRCh38] Chr1:21657699 [GRCh37] Chr1:1p36.12 |
uncertain significance |
GRCh38/hg38 1p36.12(chr1:21341595-21861116)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051800]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051800]|See cases [RCV000051800] |
Chr1:21341595..21861116 [GRCh38] Chr1:21668088..22187609 [GRCh37] Chr1:21540675..22060196 [NCBI36] Chr1:1p36.12 |
pathogenic |
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 |
copy number loss |
See cases [RCV000053760] |
Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12 |
pathogenic |
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 |
copy number loss |
See cases [RCV000053789] |
Chr1:18347821..22512894 [GRCh38] Chr1:18674315..22839387 [GRCh37] Chr1:18546902..22711974 [NCBI36] Chr1:1p36.13-36.12 |
pathogenic |
GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1 |
copy number loss |
See cases [RCV000053796] |
Chr1:20482657..21271999 [GRCh38] Chr1:20809150..21598492 [GRCh37] Chr1:20681737..21471079 [NCBI36] Chr1:1p36.12 |
pathogenic |
NM_001113348.1(ECE1):c.700A>T (p.Ser234Cys) |
single nucleotide variant |
Malignant melanoma [RCV000060085] |
Chr1:21258707 [GRCh38] Chr1:21585200 [GRCh37] Chr1:21457787 [NCBI36] Chr1:1p36.12 |
not provided |
Single allele |
complex |
Ductal breast carcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
chr1:17555508-24706269 complex variant |
complex |
Ductal breast carcinoma [RCV000207266] |
Chr1:17555508..24706269 [GRCh37] Chr1:1p36.13-36.11 |
uncertain significance |
NM_001397.3(ECE1):c.1278+7C>T |
single nucleotide variant |
not specified [RCV000253604] |
Chr1:21244982 [GRCh38] Chr1:21571475 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1164-5C>T |
single nucleotide variant |
not specified [RCV000248868] |
Chr1:21245108 [GRCh38] Chr1:21571601 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1155C>T (p.Thr385=) |
single nucleotide variant |
not specified [RCV000244888] |
Chr1:21247229 [GRCh38] Chr1:21573722 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1641T>C (p.Asp547=) |
single nucleotide variant |
not provided [RCV001610617]|not specified [RCV000242717] |
Chr1:21233587 [GRCh38] Chr1:21560080 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1546C>T (p.Leu516=) |
single nucleotide variant |
not provided [RCV000906948]|not specified [RCV000250169] |
Chr1:21235870 [GRCh38] Chr1:21562363 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) |
single nucleotide variant |
not provided [RCV000514478]|not specified [RCV000245427] |
Chr1:21238138 [GRCh38] Chr1:21564631 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_001397.3(ECE1):c.1782-4C>A |
single nucleotide variant |
not specified [RCV000250654] |
Chr1:21227230 [GRCh38] Chr1:21553723 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1022C>T (p.Thr341Ile) |
single nucleotide variant |
not specified [RCV000253112] |
Chr1:21247362 [GRCh38] Chr1:21573855 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1671-21_1671-20delinsGG |
indel |
not specified [RCV000245899] |
Chr1:21228061..21228062 [GRCh38] Chr1:21554554..21554555 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1020+15G>A |
single nucleotide variant |
not provided [RCV001618418]|not specified [RCV000248327] |
Chr1:21255932 [GRCh38] Chr1:21582425 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp) |
single nucleotide variant |
Aganglionic megacolon [RCV000736044] |
Chr1:21225411 [GRCh38] Chr1:21551904 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 |
copy number loss |
See cases [RCV000447314] |
Chr1:20067124..22537862 [GRCh37] Chr1:1p36.13-36.12 |
pathogenic |
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_001397.3(ECE1):c.130G>C (p.Gly44Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003281183] |
Chr1:21290078 [GRCh38] Chr1:21616571 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1112A>G (p.Asp371Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003275292] |
Chr1:21247272 [GRCh38] Chr1:21573765 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys) |
single nucleotide variant |
Aganglionic megacolon [RCV000736043] |
Chr1:21247317 [GRCh38] Chr1:21573810 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.12(chr1:21627370-21785981)x3 |
copy number gain |
not provided [RCV000748939] |
Chr1:21627370..21785981 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1966G>A (p.Gly656Arg) |
single nucleotide variant |
Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV001647332] |
Chr1:21225324 [GRCh38] Chr1:21551817 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
NM_001397.3(ECE1):c.131G>A (p.Gly44Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003245472] |
Chr1:21290077 [GRCh38] Chr1:21616570 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.828+8T>C |
single nucleotide variant |
not provided [RCV000968820] |
Chr1:21257517 [GRCh38] Chr1:21584010 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.2187C>T (p.Thr729=) |
single nucleotide variant |
not provided [RCV000927743] |
Chr1:21220081 [GRCh38] Chr1:21546574 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1884A>C (p.Pro628=) |
single nucleotide variant |
not provided [RCV000968973] |
Chr1:21225406 [GRCh38] Chr1:21551899 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.504G>A (p.Thr168=) |
single nucleotide variant |
not provided [RCV000882996] |
Chr1:21260382 [GRCh38] Chr1:21586875 [GRCh37] Chr1:1p36.12 |
benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_001397.3(ECE1):c.807G>A (p.Leu269=) |
single nucleotide variant |
not provided [RCV000898333] |
Chr1:21257546 [GRCh38] Chr1:21584039 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1190A>G (p.Asn397Ser) |
single nucleotide variant |
not provided [RCV000938857] |
Chr1:21245077 [GRCh38] Chr1:21571570 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1866G>A (p.Lys622=) |
single nucleotide variant |
not provided [RCV000942260] |
Chr1:21225424 [GRCh38] Chr1:21551917 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1911C>G (p.Ala637=) |
single nucleotide variant |
not provided [RCV000925908] |
Chr1:21225379 [GRCh38] Chr1:21551872 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.138+7G>A |
single nucleotide variant |
not provided [RCV000895228] |
Chr1:21290063 [GRCh38] Chr1:21616556 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.828+9G>A |
single nucleotide variant |
not provided [RCV000907681] |
Chr1:21257516 [GRCh38] Chr1:21584009 [GRCh37] Chr1:1p36.12 |
likely benign |
NC_000001.10:g.(?_19199339)_(22987879_?)dup |
duplication |
Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] |
Chr1:19199339..22987879 [GRCh37] Chr1:1p36.13-36.12 |
uncertain significance |
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 |
copy number loss |
1p36.1 deletion syndrome [RCV001614471] |
Chr1:16785250..23491592 [GRCh37] Chr1:1p36.13-36.12 |
pathogenic |
NM_001397.3(ECE1):c.1566C>T (p.Asp522=) |
single nucleotide variant |
not provided [RCV000902602] |
Chr1:21235850 [GRCh38] Chr1:21562343 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.517G>A (p.Glu173Lys) |
single nucleotide variant |
not provided [RCV000911051] |
Chr1:21260369 [GRCh38] Chr1:21586862 [GRCh37] Chr1:1p36.12 |
likely benign |
GRCh37/hg19 1p36.12(chr1:21616227-21617357) |
copy number loss |
Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV001195141] |
Chr1:21616227..21617357 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1163+9A>C |
single nucleotide variant |
not provided [RCV000890426] |
Chr1:21247212 [GRCh38] Chr1:21573705 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.729C>T (p.Ala243=) |
single nucleotide variant |
not provided [RCV000911355] |
Chr1:21258726 [GRCh38] Chr1:21585219 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1710G>A (p.Ser570=) |
single nucleotide variant |
not provided [RCV000889615] |
Chr1:21228002 [GRCh38] Chr1:21554495 [GRCh37] Chr1:1p36.12 |
benign |
NM_001397.3(ECE1):c.1686G>A (p.Pro562=) |
single nucleotide variant |
not provided [RCV000912519] |
Chr1:21228026 [GRCh38] Chr1:21554519 [GRCh37] Chr1:1p36.12 |
likely benign |
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 |
copy number loss |
not provided [RCV001259567] |
Chr1:17284906..21778495 [GRCh37] Chr1:1p36.13-36.12 |
pathogenic |
NM_001397.3(ECE1):c.1960G>A (p.Val654Met) |
single nucleotide variant |
not provided [RCV001466250] |
Chr1:21225330 [GRCh38] Chr1:21551823 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.1072C>A (p.Pro358Thr) |
single nucleotide variant |
not provided [RCV001726740] |
Chr1:21247312 [GRCh38] Chr1:21573805 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.877G>A (p.Gly293Ser) |
single nucleotide variant |
Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV001839276] |
Chr1:21256090 [GRCh38] Chr1:21582583 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NC_000001.10:g.(?_19199339)_(24690861_?)dup |
duplication |
Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] |
Chr1:19199339..24690861 [GRCh37] Chr1:1p36.13-36.11 |
uncertain significance |
NM_001397.3(ECE1):c.1093G>A (p.Glu365Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002902465] |
Chr1:21247291 [GRCh38] Chr1:21573784 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.548G>A (p.Arg183His) |
single nucleotide variant |
Inborn genetic diseases [RCV002753098] |
Chr1:21260338 [GRCh38] Chr1:21586831 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1753G>C (p.Ala585Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002793713] |
Chr1:21227959 [GRCh38] Chr1:21554452 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.43G>A (p.Ala15Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002783725] |
Chr1:21290372 [GRCh38] Chr1:21616865 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.104T>C (p.Leu35Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002738796] |
Chr1:21290104 [GRCh38] Chr1:21616597 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.157C>G (p.Arg53Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002697055] |
Chr1:21279314 [GRCh38] Chr1:21605807 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.70G>A (p.Ala24Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002930523] |
Chr1:21290138 [GRCh38] Chr1:21616631 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.2164A>G (p.Ser722Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002787352] |
Chr1:21220104 [GRCh38] Chr1:21546597 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1864A>C (p.Lys622Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002719438] |
Chr1:21225426 [GRCh38] Chr1:21551919 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.19C>T (p.Pro7Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002769881] |
Chr1:21290396 [GRCh38] Chr1:21616889 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.683C>T (p.Thr228Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002748013] |
Chr1:21258772 [GRCh38] Chr1:21585265 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1345C>G (p.Pro449Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002655260] |
Chr1:21238178 [GRCh38] Chr1:21564671 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.935C>T (p.Thr312Met) |
single nucleotide variant |
Hirschsprung disease, cardiac defects, and autonomic dysfunction [RCV003146997] |
Chr1:21256032 [GRCh38] Chr1:21582525 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.217G>A (p.Val73Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003371439] |
Chr1:21279254 [GRCh38] Chr1:21605747 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.861G>T (p.Gln287His) |
single nucleotide variant |
Inborn genetic diseases [RCV003384862] |
Chr1:21256106 [GRCh38] Chr1:21582599 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.1445T>C (p.Leu482Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003350337] |
Chr1:21236789 [GRCh38] Chr1:21563282 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.796G>T (p.Asp266Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003381862] |
Chr1:21257557 [GRCh38] Chr1:21584050 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.571A>G (p.Ile191Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003378170] |
Chr1:21260315 [GRCh38] Chr1:21586808 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.43G>T (p.Ala15Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003366910] |
Chr1:21290372 [GRCh38] Chr1:21616865 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_001397.3(ECE1):c.44C>T (p.Ala15Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003366911] |
Chr1:21290371 [GRCh38] Chr1:21616864 [GRCh37] Chr1:1p36.12 |
uncertain significance |
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 |
copy number gain |
not provided [RCV003485339] |
Chr1:17291707..23016395 [GRCh37] Chr1:1p36.13-36.12 |
likely pathogenic |
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1 |
pathogenic |
NM_001397.3(ECE1):c.*2220C>T |
single nucleotide variant |
not provided [RCV003412868] |
Chr1:21217735 [GRCh38] Chr1:21544228 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_001397.3(ECE1):c.139-35C>T |
single nucleotide variant |
not provided [RCV003412869] |
Chr1:21279367 [GRCh38] Chr1:21605860 [GRCh37] Chr1:1p36.12 |
likely benign |