| NM_001080432.3(FTO):c.947G>A (p.Arg316Gln) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000001110] |
Chr16:53873837 [GRCh38]
Chr16:53907749 [GRCh37]
Chr16:16q12.2 |
pathogenic |
| NM_001080432.2(FTO):c.1364+34038T>A |
single nucleotide variant |
Lung cancer [RCV000100000] |
Chr16:53968147 [GRCh38]
Chr16:54002059 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.2(FTO):c.1365-29472A>T |
single nucleotide variant |
Lung cancer [RCV000100001] |
Chr16:54082290 [GRCh38]
Chr16:54116202 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 |
copy number loss |
See cases [RCV000053329] |
Chr16:47250644..54121476 [GRCh38]
Chr16:47284555..54155388 [GRCh37]
Chr16:45842056..52712889 [NCBI36]
Chr16:16q12.1-12.2 |
pathogenic |
| GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1 |
copy number loss |
See cases [RCV000053332] |
Chr16:50784329..55566715 [GRCh38]
Chr16:50818240..55600627 [GRCh37]
Chr16:49375741..54158128 [NCBI36]
Chr16:16q12.1-12.2 |
pathogenic |
| GRCh38/hg38 16q12.2(chr16:53849442-54109066)x1 |
copy number loss |
See cases [RCV000137928] |
Chr16:53849442..54109066 [GRCh38]
Chr16:53883354..54142978 [GRCh37]
Chr16:52440855..52700479 [NCBI36]
Chr16:16q12.2 |
uncertain significance |
| GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3 |
pathogenic |
| GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 |
copy number gain |
See cases [RCV000143752] |
Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1 |
pathogenic |
| NM_001080432.3(FTO):c.956C>T (p.Ser319Phe) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000190415] |
Chr16:53873846 [GRCh38]
Chr16:53907758 [GRCh37]
Chr16:16q12.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001080432.3(FTO):c.46-43098T>C |
single nucleotide variant |
OBESITY (BMIQ14), SUSCEPTIBILITY TO [RCV000201907] |
Chr16:53767042 [GRCh38]
Chr16:53800954 [GRCh37]
Chr16:16q12.2 |
risk factor |
| GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3 |
uncertain significance |
| GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 |
copy number loss |
Ductal breast carcinoma [RCV000207292] |
Chr16:48543083..53879916 [GRCh38]
Chr16:48576994..53913828 [GRCh37]
Chr16:16q12.1-12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1365G>T (p.Arg455Ser) |
single nucleotide variant |
not provided [RCV000224338] |
Chr16:54111762 [GRCh38]
Chr16:54145674 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.99C>T (p.Pro33=) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000301092]|not provided [RCV000957415] |
Chr16:53810193 [GRCh38]
Chr16:53844105 [GRCh37]
Chr16:16q12.2 |
benign|likely benign|uncertain significance |
| NM_001080432.3(FTO):c.487G>A (p.Ala163Thr) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000302311]|not provided [RCV000973053] |
Chr16:53826227 [GRCh38]
Chr16:53860139 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.*2210A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000266685] |
Chr16:54114125 [GRCh38]
Chr16:54148037 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.*1724A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000288733] |
Chr16:54113639 [GRCh38]
Chr16:54147551 [GRCh37]
Chr16:16q12.2 |
likely benign|uncertain significance |
| NM_001080432.3(FTO):c.*2333C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000288821] |
Chr16:54114248 [GRCh38]
Chr16:54148160 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1195T>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000277820] |
Chr16:54113110 [GRCh38]
Chr16:54147022 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.-4del |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000296143] |
Chr16:53704181 [GRCh38]
Chr16:53738093 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2108G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000262237] |
Chr16:54114023 [GRCh38]
Chr16:54147935 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.*2039C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000297463] |
Chr16:54113954 [GRCh38]
Chr16:54147866 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*116C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000280237] |
Chr16:54112031 [GRCh38]
Chr16:54145943 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.*322T>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000281291] |
Chr16:54112237 [GRCh38]
Chr16:54146149 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1057G>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000366327] |
Chr16:54112972 [GRCh38]
Chr16:54146884 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1944G>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000260903] |
Chr16:54113859 [GRCh38]
Chr16:54147771 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2180C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000322133] |
Chr16:54114095 [GRCh38]
Chr16:54148007 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.*1745G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000344039] |
Chr16:54113660 [GRCh38]
Chr16:54147572 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1082G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000367527] |
Chr16:54112997 [GRCh38]
Chr16:54146909 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*1061C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000271706] |
Chr16:54112976 [GRCh38]
Chr16:54146888 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1119+25dup |
duplication |
Growth retardation, developmental delay, coarse facies, and early death [RCV000272344] |
Chr16:53879999..53880000 [GRCh38]
Chr16:53913911..53913912 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1911del |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000369548] |
Chr16:54113812 [GRCh38]
Chr16:54147724 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.*1550C>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000282763] |
Chr16:54113465 [GRCh38]
Chr16:54147377 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2249A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000324121] |
Chr16:54114164 [GRCh38]
Chr16:54148076 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*2334G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000346181] |
Chr16:54114249 [GRCh38]
Chr16:54148161 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*2442A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000396272] |
Chr16:54114357 [GRCh38]
Chr16:54148269 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.1306A>C (p.Thr436Pro) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000292139] |
Chr16:53934051 [GRCh38]
Chr16:53967963 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1331G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000371675] |
Chr16:54113246 [GRCh38]
Chr16:54147158 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.*301G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000398068] |
Chr16:54112216 [GRCh38]
Chr16:54146128 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1829G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000308907] |
Chr16:54113744 [GRCh38]
Chr16:54147656 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*619A>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000306118] |
Chr16:54112534 [GRCh38]
Chr16:54146446 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*931C>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000306816] |
Chr16:54112846 [GRCh38]
Chr16:54146758 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.1179T>G (p.Thr393=) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000327460] |
Chr16:53888891 [GRCh38]
Chr16:53922803 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1860A>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000349733] |
Chr16:54113775 [GRCh38]
Chr16:54147687 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001363891.1(FTO):c.-186C>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000349937] |
Chr16:53703999 [GRCh38]
Chr16:53737911 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000398676]|not provided [RCV000895438] |
Chr16:53826140 [GRCh38]
Chr16:53860052 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.959C>T (p.Thr320Ile) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000326322] |
Chr16:53873849 [GRCh38]
Chr16:53907761 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*361C>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000341234] |
Chr16:54112276 [GRCh38]
Chr16:54146188 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1379del |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000263015] |
Chr16:54113289 [GRCh38]
Chr16:54147201 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.*1592G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000342393] |
Chr16:54113507 [GRCh38]
Chr16:54147419 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1403C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000377378] |
Chr16:54113318 [GRCh38]
Chr16:54147230 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.751+3A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000361718] |
Chr16:53826494 [GRCh38]
Chr16:53860406 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1315C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000332812] |
Chr16:54113230 [GRCh38]
Chr16:54147142 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*39G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000333237] |
Chr16:54111954 [GRCh38]
Chr16:54145866 [GRCh37]
Chr16:16q12.2 |
likely benign|uncertain significance |
| NM_001080432.3(FTO):c.174T>C (p.Ser58=) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000355842] |
Chr16:53825914 [GRCh38]
Chr16:53859826 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2301G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000380978] |
Chr16:54114216 [GRCh38]
Chr16:54148128 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*1071G>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000312822] |
Chr16:54112986 [GRCh38]
Chr16:54146898 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*2080A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000356946] |
Chr16:54113995 [GRCh38]
Chr16:54147907 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001363891.1(FTO):c.-137G>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000395096] |
Chr16:53704048 [GRCh38]
Chr16:53737960 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1767del |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000396026] |
Chr16:54113680 [GRCh38]
Chr16:54147592 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*298C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000335333] |
Chr16:54112213 [GRCh38]
Chr16:54146125 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2362G>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000384288] |
Chr16:54114277 [GRCh38]
Chr16:54148189 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.783T>A (p.His261Gln) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000266601] |
Chr16:53844186 [GRCh38]
Chr16:53878098 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2551G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000314521] |
Chr16:54114466 [GRCh38]
Chr16:54148378 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*658A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000360909] |
Chr16:54112573 [GRCh38]
Chr16:54146485 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1240-4G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000386511] |
Chr16:53933981 [GRCh38]
Chr16:53967893 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*88C>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000387682] |
Chr16:54112003 [GRCh38]
Chr16:54145915 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1380del |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000318090] |
Chr16:54113295 [GRCh38]
Chr16:54147207 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.*721T>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000390533] |
Chr16:54112636 [GRCh38]
Chr16:54146548 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| NM_001080432.3(FTO):c.*1911dup |
duplication |
Growth retardation, developmental delay, coarse facies, and early death [RCV000314974] |
Chr16:54113811..54113812 [GRCh38]
Chr16:54147723..54147724 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1119+12_1119+15del |
microsatellite |
Growth retardation, developmental delay, coarse facies, and early death [RCV000362348] |
Chr16:53879995..53879998 [GRCh38]
Chr16:53913907..53913910 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1896del |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000399067] |
Chr16:54113811 [GRCh38]
Chr16:54147723 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2401C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000292356] |
Chr16:54114316 [GRCh38]
Chr16:54148228 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2412C>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000349453] |
Chr16:54114327 [GRCh38]
Chr16:54148239 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.18T>C (p.Thr6=) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000336116]|Joubert syndrome [RCV000318257]|Meckel-Gruber syndrome [RCV000274776]|Nephronophthisis [RCV000375411] |
Chr16:53704202 [GRCh38]
Chr16:53738114 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.*2192G>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000376772] |
Chr16:54114107 [GRCh38]
Chr16:54148019 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.45+8G>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000395088] |
Chr16:53704237 [GRCh38]
Chr16:53738149 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1704T>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000378494] |
Chr16:54113619 [GRCh38]
Chr16:54147531 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*509G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000398089] |
Chr16:54112424 [GRCh38]
Chr16:54146336 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.154C>T (p.Arg52Ter) |
single nucleotide variant |
not provided [RCV000598325] |
Chr16:53825894 [GRCh38]
Chr16:53859806 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q12.2(chr16:53977023-54069147)x1 |
copy number loss |
See cases [RCV000448619] |
Chr16:53977023..54069147 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 |
copy number gain |
See cases [RCV000511791] |
Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
PARP Inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_001080432.3(FTO):c.545G>C (p.Gly182Ala) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116237]|not provided [RCV000514150] |
Chr16:53826285 [GRCh38]
Chr16:53860197 [GRCh37]
Chr16:16q12.2 |
benign|likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_001080432.3(FTO):c.263A>G (p.Lys88Arg) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000625863] |
Chr16:53826003 [GRCh38]
Chr16:53859915 [GRCh37]
Chr16:16q12.2 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
PARP Inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| GRCh37/hg19 16q12.2(chr16:53799506-53906307)x1 |
copy number loss |
not provided [RCV000683819] |
Chr16:53799506..53906307 [GRCh37]
Chr16:16q12.2 |
likely benign |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_001080432.3(FTO):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116239] |
Chr16:53826461 [GRCh38]
Chr16:53860373 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1073C>T (p.Ser358Phe) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117684] |
Chr16:53879941 [GRCh38]
Chr16:53913853 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.974A>T (p.Glu325Val) |
single nucleotide variant |
not provided [RCV000973740] |
Chr16:53873864 [GRCh38]
Chr16:53907776 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.1214C>T (p.Ala405Val) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117686]|not provided [RCV000966003] |
Chr16:53888926 [GRCh38]
Chr16:53922838 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.1384C>T (p.Arg462Ter) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV000779191] |
Chr16:54111781 [GRCh38]
Chr16:54145693 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.955del (p.Ser319fs) |
deletion |
Growth retardation, developmental delay, coarse facies, and early death [RCV000778469] |
Chr16:53873844 [GRCh38]
Chr16:53907756 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.767G>A (p.Ser256Asn) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116240]|not provided [RCV000886969] |
Chr16:53844170 [GRCh38]
Chr16:53878082 [GRCh37]
Chr16:16q12.2 |
benign|uncertain significance |
| NM_001080432.3(FTO):c.857C>T (p.Ala286Val) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117682] |
Chr16:53844260 [GRCh38]
Chr16:53878172 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2190A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117897] |
Chr16:54114105 [GRCh38]
Chr16:54148017 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*888G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116341] |
Chr16:54112803 [GRCh38]
Chr16:54146715 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.*789C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116340] |
Chr16:54112704 [GRCh38]
Chr16:54146616 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1281G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119352] |
Chr16:54113196 [GRCh38]
Chr16:54147108 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.*1378C>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119353] |
Chr16:54113293 [GRCh38]
Chr16:54147205 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 |
copy number gain |
not provided [RCV000848548] |
Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21 |
uncertain significance |
| NM_001363891.1(FTO):c.-168C>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119162] |
Chr16:53704017 [GRCh38]
Chr16:53737929 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001363891.1(FTO):c.-122C>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119164] |
Chr16:53704063 [GRCh38]
Chr16:53737975 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1282G>A (p.Val428Met) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119252] |
Chr16:53934027 [GRCh38]
Chr16:53967939 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1295A>G (p.Asn432Ser) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119253] |
Chr16:53934040 [GRCh38]
Chr16:53967952 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.696T>C (p.His232=) |
single nucleotide variant |
not provided [RCV000918212] |
Chr16:53826436 [GRCh38]
Chr16:53860348 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.601G>A (p.Val201Ile) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116238] |
Chr16:53826341 [GRCh38]
Chr16:53860253 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2058A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116441] |
Chr16:54113973 [GRCh38]
Chr16:54147885 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1215G>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117788] |
Chr16:54113130 [GRCh38]
Chr16:54147042 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.*2291G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117898] |
Chr16:54114206 [GRCh38]
Chr16:54148118 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001363891.1(FTO):c.-140T>C |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119163] |
Chr16:53704045 [GRCh38]
Chr16:53737957 [GRCh37]
Chr16:16q12.2 |
likely benign |
| GRCh37/hg19 16q12.2(chr16:53789151-54049153)x1 |
copy number loss |
not provided [RCV000846883] |
Chr16:53789151..54049153 [GRCh37]
Chr16:16q12.2 |
pathogenic |
| GRCh37/hg19 16q12.2(chr16:53906098-54003147)x1 |
copy number loss |
not provided [RCV000848140] |
Chr16:53906098..54003147 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1170A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117787] |
Chr16:54113085 [GRCh38]
Chr16:54146997 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001363891.1(FTO):c.-43G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119165] |
Chr16:53704142 [GRCh38]
Chr16:53738054 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.-6G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119166] |
Chr16:53704179 [GRCh38]
Chr16:53738091 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1002T>C (p.Ile334=) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117683]|not provided [RCV000952748] |
Chr16:53879870 [GRCh38]
Chr16:53913782 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.12C>G (p.Thr4=) |
single nucleotide variant |
not provided [RCV000931787] |
Chr16:53704196 [GRCh38]
Chr16:53738108 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.912C>T (p.Thr304=) |
single nucleotide variant |
not provided [RCV000910083] |
Chr16:53873802 [GRCh38]
Chr16:53907714 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.600C>T (p.Asn200=) |
single nucleotide variant |
not provided [RCV000909349] |
Chr16:53826340 [GRCh38]
Chr16:53860252 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.123+5G>A |
single nucleotide variant |
not provided [RCV000906625] |
Chr16:53810222 [GRCh38]
Chr16:53844134 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.1122C>T (p.Val374=) |
single nucleotide variant |
not provided [RCV000939023] |
Chr16:53888834 [GRCh38]
Chr16:53922746 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.*597G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116339] |
Chr16:54112512 [GRCh38]
Chr16:54146424 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.428A>G (p.Asn143Ser) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121158] |
Chr16:53826168 [GRCh38]
Chr16:53860080 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.142A>C (p.Lys48Gln) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121156] |
Chr16:53825882 [GRCh38]
Chr16:53859794 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*195A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121258] |
Chr16:54112110 [GRCh38]
Chr16:54146022 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1198A>G (p.Met400Val) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001117685] |
Chr16:53888910 [GRCh38]
Chr16:53922822 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001363891.1(FTO):c.-210A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119161] |
Chr16:53703975 [GRCh38]
Chr16:53737887 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1380G>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119356] |
Chr16:54113295 [GRCh38]
Chr16:54147207 [GRCh37]
Chr16:16q12.2 |
benign |
| NM_001080432.3(FTO):c.*1378C>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119354] |
Chr16:54113293 [GRCh38]
Chr16:54147205 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1379C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119355] |
Chr16:54113294 [GRCh38]
Chr16:54147206 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2366C>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119447] |
Chr16:54114281 [GRCh38]
Chr16:54148193 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*125A>G |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121257] |
Chr16:54112040 [GRCh38]
Chr16:54145952 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*568C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116338] |
Chr16:54112483 [GRCh38]
Chr16:54146395 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*281G>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121259] |
Chr16:54112196 [GRCh38]
Chr16:54146108 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.1477G>T (p.Val493Phe) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119254] |
Chr16:54111874 [GRCh38]
Chr16:54145786 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*101C>A |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119255] |
Chr16:54112016 [GRCh38]
Chr16:54145928 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*1280C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001119351] |
Chr16:54113195 [GRCh38]
Chr16:54147107 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.430G>A (p.Asp144Asn) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116236] |
Chr16:53826170 [GRCh38]
Chr16:53860082 [GRCh37]
Chr16:16q12.2 |
likely benign |
| NM_001080432.3(FTO):c.278C>G (p.Pro93Arg) |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121157] |
Chr16:53826018 [GRCh38]
Chr16:53859930 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*394A>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001121260] |
Chr16:54112309 [GRCh38]
Chr16:54146221 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
| NM_001080432.3(FTO):c.*2002C>T |
single nucleotide variant |
Growth retardation, developmental delay, coarse facies, and early death [RCV001116440] |
Chr16:54113917 [GRCh38]
Chr16:54147829 [GRCh37]
Chr16:16q12.2 |
uncertain significance |
