| GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 |
copy number gain |
See cases [RCV000050830] |
Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3 |
pathogenic |
| GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 |
copy number gain |
See cases [RCV000050638] |
Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 |
copy number gain |
See cases [RCV000051206] |
Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] |
Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000053678] |
Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] |
Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000053602] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] |
Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 |
copy number gain |
See cases [RCV000134353] |
Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:143329374-143531855)x3 |
copy number gain |
See cases [RCV000134350] |
Chr8:143329374..143531855 [GRCh38]
Chr8:144411544..144614025 [GRCh37]
Chr8:144482919..144685168 [NCBI36]
Chr8:8q24.3 |
uncertain significance |
| GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 |
copy number loss |
See cases [RCV000135981] |
Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3 |
pathogenic |
| GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 |
copy number gain |
See cases [RCV000137644] |
Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 |
copy number gain |
See cases [RCV000137466] |
Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3 |
likely pathogenic |
| GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 |
copy number gain |
See cases [RCV000137340] |
Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3 |
likely pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 |
copy number gain |
See cases [RCV000137346] |
Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 |
copy number gain |
See cases [RCV000138643] |
Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 |
copy number gain |
See cases [RCV000138551] |
Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 |
copy number gain |
See cases [RCV000139036] |
Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 |
copy number gain |
See cases [RCV000140447] |
Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 |
copy number loss |
See cases [RCV000140913] |
Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 |
copy number gain |
See cases [RCV000141808] |
Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 |
copy number gain |
See cases [RCV000141694] |
Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3 |
pathogenic |
| GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 |
copy number gain |
See cases [RCV000142021] |
Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 |
copy number gain |
See cases [RCV000142810] |
Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3 |
pathogenic|likely pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 |
copy number gain |
See cases [RCV000142858] |
Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 |
copy number gain |
See cases [RCV000142597] |
Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3 |
pathogenic |
| GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 |
copy number gain |
See cases [RCV000148092] |
Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 |
copy number gain |
See cases [RCV000143659] |
Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3 |
pathogenic |
| GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 |
copy number gain |
See cases [RCV000148117] |
Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) |
single nucleotide variant |
Islet cell adenomatosis [RCV000590882] |
Chr8:143430216 [GRCh38]
Chr8:144512386 [GRCh37]
Chr8:8q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 8q24.3(chr8:142840194-146280020) |
copy number gain |
Intellectual disability [RCV000626547] |
Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 |
copy number gain |
See cases [RCV000447507] |
Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 |
copy number gain |
See cases [RCV000448954] |
Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 |
copy number gain |
See cases [RCV000448348] |
Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) |
copy number gain |
See cases [RCV000510234] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 |
copy number gain |
See cases [RCV000512003] |
Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 |
copy number gain |
See cases [RCV000511095] |
Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 |
copy number gain |
See cases [RCV000511002] |
Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.697G>T (p.Val233Leu) |
single nucleotide variant |
not specified [RCV004294228] |
Chr8:143429710 [GRCh38]
Chr8:144511880 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.289C>G (p.Pro97Ala) |
single nucleotide variant |
not specified [RCV004332971] |
Chr8:143430118 [GRCh38]
Chr8:144512288 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.319A>G (p.Thr107Ala) |
single nucleotide variant |
not specified [RCV004297162] |
Chr8:143430088 [GRCh38]
Chr8:144512258 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_201589.4(MAFA):c.205T>C (p.Cys69Arg) |
single nucleotide variant |
not specified [RCV004301218] |
Chr8:143430202 [GRCh38]
Chr8:144512372 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 |
copy number gain |
See cases [RCV000512401] |
Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3 |
pathogenic |
| GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 |
copy number gain |
See cases [RCV000512169] |
Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 |
copy number gain |
not provided [RCV000683044] |
Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 |
copy number gain |
not provided [RCV000683020] |
Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 |
copy number gain |
not provided [RCV000747248] |
Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 |
copy number gain |
not provided [RCV000747254] |
Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:144056476-144733805)x1 |
copy number loss |
not provided [RCV000747921] |
Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3 |
benign |
| GRCh37/hg19 8q24.3(chr8:144411767-144510467)x3 |
copy number gain |
not provided [RCV000747934] |
Chr8:144411767..144510467 [GRCh37]
Chr8:8q24.3 |
benign |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not provided [RCV000848478] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 |
copy number loss |
not provided [RCV001006152] |
Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 |
copy number gain |
not provided [RCV000846814] |
Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3 |
pathogenic |
| GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 |
copy number gain |
not provided [RCV000849762] |
Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 |
copy number gain |
not provided [RCV000847171] |
Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 |
copy number gain |
not provided [RCV000847854] |
Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 |
copy number gain |
not provided [RCV000848192] |
Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 |
copy number gain |
not provided [RCV000845705] |
Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.275G>C (p.Gly92Ala) |
single nucleotide variant |
not specified [RCV004332970] |
Chr8:143430132 [GRCh38]
Chr8:144512302 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.506C>A (p.Pro169Gln) |
single nucleotide variant |
not specified [RCV004332972] |
Chr8:143429901 [GRCh38]
Chr8:144512071 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 |
copy number loss |
not provided [RCV001006150] |
Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 |
copy number gain |
not provided [RCV001006146] |
Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| Single allele |
duplication |
Recombinant 8 syndrome [RCV004801486] |
Chr8:141711312..145138635 [GRCh38]
Chr8:8q24.3 |
likely pathogenic |
| GRCh37/hg19 8q24.3(chr8:144320365-144624272)x3 |
copy number gain |
not provided [RCV001006154] |
Chr8:144320365..144624272 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 |
copy number gain |
not provided [RCV001006140] |
Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 |
copy number gain |
not provided [RCV001259034] |
Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3 |
likely pathogenic |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) |
copy number gain |
Polydactyly [RCV002280629] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 |
copy number gain |
not provided [RCV001259511] |
Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 |
copy number gain |
See cases [RCV002285066] |
Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.451C>T (p.His151Tyr) |
single nucleotide variant |
not specified [RCV001819259] |
Chr8:143429956 [GRCh38]
Chr8:144512126 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.445GGCGCGCACCAC[1] (p.149GAHH[1]) |
microsatellite |
not specified [RCV001822220] |
Chr8:143429939..143429950 [GRCh38]
Chr8:144512109..144512120 [GRCh37]
Chr8:8q24.3 |
likely benign |
| GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) |
copy number gain |
not specified [RCV002053772] |
Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) |
copy number gain |
not specified [RCV002053797] |
Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3 |
pathogenic |
| NC_000008.10:g.(?_144295143)_(145701139_?)del |
deletion |
Brown-Vialetto-van Laere syndrome 2 [RCV001939634]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001962911] |
Chr8:144295143..145701139 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NC_000008.10:g.(?_143822561)_(145743168_?)dup |
duplication |
Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003107890]|Holoprosencephaly sequence [RCV003107891]|not provided [RCV001922894] |
Chr8:143822561..145743168 [GRCh37]
Chr8:8q24.3 |
uncertain significance|no classifications from unflagged records |
| GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) |
copy number gain |
not provided [RCV002221452] |
Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.796G>T (p.Gly266Cys) |
single nucleotide variant |
Islet cell adenomatosis [RCV003230250] |
Chr8:143429611 [GRCh38]
Chr8:144511781 [GRCh37]
Chr8:8q24.3 |
benign |
| GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 |
copy number gain |
See cases [RCV002292707] |
Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.259T>G (p.Ser87Ala) |
single nucleotide variant |
not specified [RCV004332968] |
Chr8:143430148 [GRCh38]
Chr8:144512318 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_201589.4(MAFA):c.262T>G (p.Ser88Ala) |
single nucleotide variant |
not specified [RCV004332969] |
Chr8:143430145 [GRCh38]
Chr8:144512315 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_201589.4(MAFA):c.594CCA[7] (p.His206_His208del) |
microsatellite |
MAFA-related disorder [RCV003919019]|not specified [RCV003151559] |
Chr8:143429784..143429792 [GRCh38]
Chr8:144511954..144511962 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_201589.4(MAFA):c.767A>C (p.Lys256Thr) |
single nucleotide variant |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome [RCV002466958] |
Chr8:143429640 [GRCh38]
Chr8:144511810 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.121T>G (p.Phe41Val) |
single nucleotide variant |
Islet cell adenomatosis [RCV002466888] |
Chr8:143430286 [GRCh38]
Chr8:144512456 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3 |
copy number gain |
not provided [RCV002472598] |
Chr8:143895666..144568446 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.708G>A (p.Ser236=) |
single nucleotide variant |
not specified [RCV003151558] |
Chr8:143429699 [GRCh38]
Chr8:144511869 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.841A>G (p.Ile281Val) |
single nucleotide variant |
not specified [RCV004223604] |
Chr8:143429566 [GRCh38]
Chr8:144511736 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.292A>C (p.Ser98Arg) |
single nucleotide variant |
not specified [RCV004083247] |
Chr8:143430115 [GRCh38]
Chr8:144512285 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.301C>A (p.Pro101Thr) |
single nucleotide variant |
not specified [RCV004236423] |
Chr8:143430106 [GRCh38]
Chr8:144512276 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.824G>A (p.Arg275Gln) |
single nucleotide variant |
not specified [RCV004145577] |
Chr8:143429583 [GRCh38]
Chr8:144511753 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.1053C>A (p.Phe351Leu) |
single nucleotide variant |
not specified [RCV004220714] |
Chr8:143429354 [GRCh38]
Chr8:144511524 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.398T>G (p.Leu133Arg) |
single nucleotide variant |
not specified [RCV004206933] |
Chr8:143430009 [GRCh38]
Chr8:144512179 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.747G>C (p.Lys249Asn) |
single nucleotide variant |
not specified [RCV004189155] |
Chr8:143429660 [GRCh38]
Chr8:144511830 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.131G>A (p.Arg44His) |
single nucleotide variant |
not specified [RCV004332610] |
Chr8:143430276 [GRCh38]
Chr8:144512446 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.473C>A (p.Ala158Glu) |
single nucleotide variant |
not specified [RCV004251135] |
Chr8:143429934 [GRCh38]
Chr8:144512104 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.170C>G (p.Thr57Arg) |
single nucleotide variant |
Islet cell adenomatosis [RCV003325633] |
Chr8:143430237 [GRCh38]
Chr8:144512407 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3 |
copy number gain |
not provided [RCV003484757] |
Chr8:144282591..144740223 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.41G>A (p.Ser14Asn) |
single nucleotide variant |
not specified [RCV004413433] |
Chr8:143430366 [GRCh38]
Chr8:144512536 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 |
copy number gain |
not provided [RCV003484752] |
Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3 |
pathogenic |
| NM_201589.4(MAFA):c.521G>A (p.Gly174Asp) |
single nucleotide variant |
not specified [RCV004413434] |
Chr8:143429886 [GRCh38]
Chr8:144512056 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.653G>A (p.Gly218Asp) |
single nucleotide variant |
not specified [RCV004413435] |
Chr8:143429754 [GRCh38]
Chr8:144511924 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.776G>C (p.Arg259Pro) |
single nucleotide variant |
not specified [RCV004413436] |
Chr8:143429631 [GRCh38]
Chr8:144511801 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.13C>G (p.Leu5Val) |
single nucleotide variant |
not specified [RCV004413431] |
Chr8:143430394 [GRCh38]
Chr8:144512564 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.293G>A (p.Ser98Asn) |
single nucleotide variant |
not specified [RCV004413432] |
Chr8:143430114 [GRCh38]
Chr8:144512284 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 |
copy number gain |
not specified [RCV003986742] |
Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3 |
pathogenic |
| GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3 |
copy number gain |
not specified [RCV003986763] |
Chr8:144090414..145900544 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.115G>A (p.Glu39Lys) |
single nucleotide variant |
not specified [RCV004413430] |
Chr8:143430292 [GRCh38]
Chr8:144512462 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.997C>T (p.Arg333Trp) |
single nucleotide variant |
not specified [RCV004413439] |
Chr8:143429410 [GRCh38]
Chr8:144511580 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.594CCA[8] (p.His207_His208del) |
microsatellite |
MAFA-related disorder [RCV003981345] |
Chr8:143429784..143429789 [GRCh38]
Chr8:144511954..144511959 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.971G>T (p.Gly324Val) |
single nucleotide variant |
not specified [RCV004413438] |
Chr8:143429436 [GRCh38]
Chr8:144511606 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 |
copy number gain |
not provided [RCV003885521] |
Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.*2C>T |
single nucleotide variant |
MAFA-related disorder [RCV003926961] |
Chr8:143429343 [GRCh38]
Chr8:144511513 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_201589.4(MAFA):c.393C>T (p.Leu131=) |
single nucleotide variant |
MAFA-related disorder [RCV003976734] |
Chr8:143430014 [GRCh38]
Chr8:144512184 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.822G>A (p.Lys274=) |
single nucleotide variant |
MAFA-related disorder [RCV003922218] |
Chr8:143429585 [GRCh38]
Chr8:144511755 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.582T>C (p.His194=) |
single nucleotide variant |
MAFA-related disorder [RCV003979776] |
Chr8:143429825 [GRCh38]
Chr8:144511995 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.1039G>T (p.Gly347Cys) |
single nucleotide variant |
MAFA-related disorder [RCV003976602] |
Chr8:143429368 [GRCh38]
Chr8:144511538 [GRCh37]
Chr8:8q24.3 |
benign |
| NM_201589.4(MAFA):c.631G>A (p.Ala211Thr) |
single nucleotide variant |
Islet cell adenomatosis [RCV004577299] |
Chr8:143429776 [GRCh38]
Chr8:144511946 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.275G>A (p.Gly92Asp) |
single nucleotide variant |
not specified [RCV004640474] |
Chr8:143430132 [GRCh38]
Chr8:144512302 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.469C>T (p.Pro157Ser) |
single nucleotide variant |
not specified [RCV004640472] |
Chr8:143429938 [GRCh38]
Chr8:144512108 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.621C>G (p.His207Gln) |
single nucleotide variant |
not specified [RCV004640473] |
Chr8:143429786 [GRCh38]
Chr8:144511956 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.582_602del (p.Ala197_His203del) |
deletion |
MAFA-related disorder [RCV004759118] |
Chr8:143429805..143429825 [GRCh38]
Chr8:144511975..144511995 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.867C>G (p.Leu289=) |
single nucleotide variant |
MAFA-related disorder [RCV004759268] |
Chr8:143429540 [GRCh38]
Chr8:144511710 [GRCh37]
Chr8:8q24.3 |
likely benign |
| NM_201589.4(MAFA):c.545C>G (p.Ala182Gly) |
single nucleotide variant |
not specified [RCV004942554] |
Chr8:143429862 [GRCh38]
Chr8:144512032 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.653G>T (p.Gly218Val) |
single nucleotide variant |
not specified [RCV004942559] |
Chr8:143429754 [GRCh38]
Chr8:144511924 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.593C>A (p.Ala198Asp) |
single nucleotide variant |
not specified [RCV004942561] |
Chr8:143429814 [GRCh38]
Chr8:144511984 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3 |
copy number gain |
not provided [RCV004819306] |
Chr8:111432348..146295771 [GRCh37]
Chr8:8q23.2-24.3 |
pathogenic |
| NM_201589.4(MAFA):c.382C>T (p.Pro128Ser) |
single nucleotide variant |
not specified [RCV004942558] |
Chr8:143430025 [GRCh38]
Chr8:144512195 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.413C>A (p.Ala138Glu) |
single nucleotide variant |
Islet cell adenomatosis [RCV004819936] |
Chr8:143429994 [GRCh38]
Chr8:144512164 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.652G>C (p.Gly218Arg) |
single nucleotide variant |
not specified [RCV004942557] |
Chr8:143429755 [GRCh38]
Chr8:144511925 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.476C>T (p.Ala159Val) |
single nucleotide variant |
not specified [RCV004942560] |
Chr8:143429931 [GRCh38]
Chr8:144512101 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
| NM_201589.4(MAFA):c.118C>G (p.Arg40Gly) |
single nucleotide variant |
not specified [RCV004942556] |
Chr8:143430289 [GRCh38]
Chr8:144512459 [GRCh37]
Chr8:8q24.3 |
uncertain significance |
