NM_182894.3(VSX2):c.66G>C (p.Ser22=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000554268] |
Chr14:74239627 [GRCh38] Chr14:74706330 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.599G>A (p.Arg200Gln) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001851882]|Microphthalmia, cataracts, and iris abnormalities [RCV000015985] |
Chr14:74259621 [GRCh38] Chr14:74726324 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000015987]|Microphthalmia, cataracts, and iris abnormalities [RCV000015986]|Microphthalmia, isolated, with coloboma 3 [RCV001330573]|not provided [RCV000413928] |
Chr14:74259621 [GRCh38] Chr14:74726324 [GRCh37] Chr14:14q24.3 |
pathogenic|likely pathogenic |
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000015988]|Microphthalmia [RCV000786019]|Microphthalmia, isolated, with coloboma 3 [RCV000714543] |
Chr14:74259701 [GRCh38] Chr14:74726404 [GRCh37] Chr14:14q24.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NG_013092.1:g.(7926_9509)_(12624_14744)del |
deletion |
Isolated microphthalmia 2 [RCV000015989] |
Chr14:14q24.3 |
pathogenic |
CHX10, IVS1, G-A, -1 |
single nucleotide variant |
Microphthalmia, isolated, with coloboma 3 [RCV000015990] |
Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.821G>A (p.Arg274His) |
single nucleotide variant |
Inborn genetic diseases [RCV002535103]|Isolated microphthalmia 2 [RCV001240477]|not provided [RCV000729037] |
Chr14:74260654 [GRCh38] Chr14:74727357 [GRCh37] Chr14:14q24.3 |
uncertain significance |
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 |
copy number loss |
See cases [RCV000051548] |
Chr14:73877072..78042422 [GRCh38] Chr14:74343775..78508765 [GRCh37] Chr14:73413528..77578518 [NCBI36] Chr14:14q24.3 |
pathogenic |
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] |
Chr14:72787506..99596719 [GRCh38] Chr14:73254214..100063056 [GRCh37] Chr14:72323967..99132809 [NCBI36] Chr14:14q24.2-32.2 |
pathogenic |
NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) |
single nucleotide variant |
Microphthalmia, isolated, with coloboma 3 [RCV000673950]|not provided [RCV000058885] |
Chr14:74260699 [GRCh38] Chr14:74727402 [GRCh37] Chr14:14q24.3 |
uncertain significance|not provided |
NM_182894.3(VSX2):c.371-6T>C |
single nucleotide variant |
not provided [RCV000082717] |
Chr14:74241176 [GRCh38] Chr14:74707879 [GRCh37] Chr14:14q24.3 |
uncertain significance |
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) |
deletion |
Intellectual disability, mild [RCV000190520] |
Chr14:73152115..77698582 [GRCh37] Chr14:14q24.2-24.3 |
pathogenic|likely pathogenic |
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000530264]|Microphthalmia, isolated, with coloboma 3 [RCV000394769]|not provided [RCV000828982]|not specified [RCV000179037] |
Chr14:74260704 [GRCh38] Chr14:74727407 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.831G>A (p.Leu277=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000394774]|Microphthalmia [RCV001826913]|Microphthalmia, isolated, with coloboma 3 [RCV000349216]|not provided [RCV001618334]|not specified [RCV000179038] |
Chr14:74260664 [GRCh38] Chr14:74727367 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.336G>A (p.Ser112=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001087653]|Microphthalmia [RCV001275440]|not provided [RCV000173584] |
Chr14:74239897 [GRCh38] Chr14:74706600 [GRCh37] Chr14:14q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 |
copy number loss |
See cases [RCV000134154] |
Chr14:69562099..81975384 [GRCh38] Chr14:70028816..82441728 [GRCh37] Chr14:69098569..81511481 [NCBI36] Chr14:14q24.1-31.1 |
pathogenic |
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 |
copy number gain |
See cases [RCV000134000] |
Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 |
copy number gain |
See cases [RCV000135543] |
Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 |
copy number gain |
See cases [RCV000143373] |
Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33 |
pathogenic |
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 |
copy number loss |
See cases [RCV000143265] |
Chr14:73343213..78835059 [GRCh38] Chr14:73809921..79301402 [GRCh37] Chr14:72879674..78371155 [NCBI36] Chr14:14q24.3-31.1 |
pathogenic|likely pathogenic |
NM_182894.3(VSX2):c.299C>A (p.Pro100Gln) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000525664]|Microphthalmia [RCV001277211]|Microphthalmia, isolated, with coloboma 3 [RCV001117921]|not provided [RCV001682871]|not specified [RCV000154136] |
Chr14:74239860 [GRCh38] Chr14:74706563 [GRCh37] Chr14:14q24.3 |
benign|likely benign|uncertain significance |
NM_182894.3(VSX2):c.471C>T (p.Ser157=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000276080]|Microphthalmia [RCV001835694]|Microphthalmia, isolated, with coloboma 3 [RCV000368201]|not provided [RCV001651025]|not specified [RCV000154137] |
Chr14:74245180 [GRCh38] Chr14:74711883 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.576A>G (p.Ile192Met) |
single nucleotide variant |
not provided [RCV000154138] |
Chr14:74245285 [GRCh38] Chr14:74711988 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg) |
single nucleotide variant |
Anophthalmia-microphthalmia syndrome [RCV000207355]|Isolated microphthalmia 2 [RCV001378265]|Microphthalmia [RCV001828043]|VSX2-related Microphthalmia [RCV000778906] |
Chr14:74259689 [GRCh38] Chr14:74726392 [GRCh37] Chr14:14q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.71dup (p.Ala25fs) |
duplication |
Anophthalmia-microphthalmia syndrome [RCV000207414] |
Chr14:74239626..74239627 [GRCh38] Chr14:74706329..74706330 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.166C>T (p.Leu56=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001494899] |
Chr14:74239727 [GRCh38] Chr14:74706430 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001085005]|Microphthalmia, isolated, with coloboma 3 [RCV000307977]|not provided [RCV000350100] |
Chr14:74239805 [GRCh38] Chr14:74706508 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*156G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000281917]|Microphthalmia, isolated, with coloboma 3 [RCV000339327] |
Chr14:74261075 [GRCh38] Chr14:74727778 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.-54G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000339371]|Microphthalmia, isolated, with coloboma 3 [RCV000281971] |
Chr14:74239508 [GRCh38] Chr14:74706211 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1565G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000282273]|Microphthalmia, isolated, with coloboma 3 [RCV000337211] |
Chr14:74262484 [GRCh38] Chr14:74729187 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1029T>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000283312]|Microphthalmia, isolated, with coloboma 3 [RCV000375525] |
Chr14:74261948 [GRCh38] Chr14:74728651 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.750G>A (p.Pro250=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000877377]|Microphthalmia [RCV001277213]|Microphthalmia, isolated, with coloboma 3 [RCV000376639] |
Chr14:74259772 [GRCh38] Chr14:74726475 [GRCh37] Chr14:14q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.921G>T (p.Ala307=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000359545]|Microphthalmia, isolated, with coloboma 3 [RCV000302651] |
Chr14:74260754 [GRCh38] Chr14:74727457 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*250C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000396643]|Microphthalmia, isolated, with coloboma 3 [RCV000304032] |
Chr14:74261169 [GRCh38] Chr14:74727872 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.939T>A (p.Ala313=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000543008]|Microphthalmia [RCV001275947]|Microphthalmia, isolated, with coloboma 3 [RCV000324740] |
Chr14:74260772 [GRCh38] Chr14:74727475 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*11G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000270557]|Microphthalmia, isolated, with coloboma 3 [RCV000381669] |
Chr14:74260930 [GRCh38] Chr14:74727633 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1803A>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000363383]|Microphthalmia, isolated, with coloboma 3 [RCV000268739] |
Chr14:74262722 [GRCh38] Chr14:74729425 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.*1161C>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000344440]|Microphthalmia, isolated, with coloboma 3 [RCV000286976]|not provided [RCV003324743] |
Chr14:74262080 [GRCh38] Chr14:74728783 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.777G>T (p.Ser259=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000345660]|Microphthalmia, isolated, with coloboma 3 [RCV000288252] |
Chr14:74260610 [GRCh38] Chr14:74727313 [GRCh37] Chr14:14q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*1511C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000325791]|Microphthalmia, isolated, with coloboma 3 [RCV000289733] |
Chr14:74262430 [GRCh38] Chr14:74729133 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*579C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000330134]|Microphthalmia, isolated, with coloboma 3 [RCV000272644] |
Chr14:74261498 [GRCh38] Chr14:74728201 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.*1212G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000309454]|Microphthalmia, isolated, with coloboma 3 [RCV000396428] |
Chr14:74262131 [GRCh38] Chr14:74728834 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.*1347G>A |
single nucleotide variant |
Isolated microphthalmia 6 [RCV000333109]|VSX2-related Microphthalmia [RCV000259328] |
Chr14:74262266 [GRCh38] Chr14:74728969 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1377C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000369121]|Microphthalmia, isolated, with coloboma 3 [RCV000274415]|not provided [RCV002285311] |
Chr14:74262296 [GRCh38] Chr14:74728999 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.810C>G (p.Pro270=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000383842]|Microphthalmia, isolated, with coloboma 3 [RCV000291925] |
Chr14:74260643 [GRCh38] Chr14:74727346 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*39C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000350224]|Microphthalmia, isolated, with coloboma 3 [RCV000292782]|not provided [RCV001712021] |
Chr14:74260958 [GRCh38] Chr14:74727661 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
Isolated microphthalmia 6 [RCV000313331]|VSX2-related Microphthalmia [RCV000351791]|not provided [RCV003165846] |
Chr14:74260696 [GRCh38] Chr14:74727399 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*670G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000276005]|Microphthalmia, isolated, with coloboma 3 [RCV000368438] |
Chr14:74261589 [GRCh38] Chr14:74728292 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.874G>C (p.Ala292Pro) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000356303]|Microphthalmia [RCV001278145]|Microphthalmia, isolated, with coloboma 3 [RCV000263880] |
Chr14:74260707 [GRCh38] Chr14:74727410 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*45T>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000296506]|Microphthalmia, isolated, with coloboma 3 [RCV000388454] |
Chr14:74260964 [GRCh38] Chr14:74727667 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.579G>A (p.Gln193=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000877376]|Microphthalmia [RCV001277212]|Microphthalmia, isolated, with coloboma 3 [RCV000262234] |
Chr14:74245288 [GRCh38] Chr14:74711991 [GRCh37] Chr14:14q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*1585A>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000403891]|Microphthalmia, isolated, with coloboma 3 [RCV000297637] |
Chr14:74262504 [GRCh38] Chr14:74729207 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.*1311G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000354163]|Microphthalmia, isolated, with coloboma 3 [RCV000299353]|not provided [RCV002244796] |
Chr14:74262230 [GRCh38] Chr14:74728933 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.*855G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000318631]|Microphthalmia, isolated, with coloboma 3 [RCV000279656] |
Chr14:74261774 [GRCh38] Chr14:74728477 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1302G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000396422]|Microphthalmia, isolated, with coloboma 3 [RCV000366501]|not provided [RCV001690044] |
Chr14:74262221 [GRCh38] Chr14:74728924 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.650C>T (p.Ala217Val) |
single nucleotide variant |
VSX2-related condition [RCV003391038]|not provided [RCV000378514] |
Chr14:74259672 [GRCh38] Chr14:74726375 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.777G>A (p.Ser259=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000323426]|Microphthalmia, isolated, with coloboma 3 [RCV000380249] |
Chr14:74260610 [GRCh38] Chr14:74727313 [GRCh37] Chr14:14q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*1764A>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000272424]|Microphthalmia, isolated, with coloboma 3 [RCV000308747] |
Chr14:74262683 [GRCh38] Chr14:74729386 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.522C>T (p.Asp174=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000644623]|Microphthalmia [RCV001833394]|not provided [RCV001531809]|not specified [RCV000278619] |
Chr14:74245231 [GRCh38] Chr14:74711934 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.*455C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000364917]|Microphthalmia, isolated, with coloboma 3 [RCV000307443]|not provided [RCV001690043] |
Chr14:74261374 [GRCh38] Chr14:74728077 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.714G>A (p.Lys238=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001087322]|Microphthalmia [RCV001275443]|not provided [RCV000394016] |
Chr14:74259736 [GRCh38] Chr14:74726439 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*54G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000335074]|Microphthalmia, isolated, with coloboma 3 [RCV000406172]|not provided [RCV001597072] |
Chr14:74260973 [GRCh38] Chr14:74727676 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.*261G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000396750]|Microphthalmia, isolated, with coloboma 3 [RCV000361050]|not provided [RCV001556963] |
Chr14:74261180 [GRCh38] Chr14:74727883 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.*1074C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000340696]|Microphthalmia, isolated, with coloboma 3 [RCV000403192]|not provided [RCV001597073] |
Chr14:74261993 [GRCh38] Chr14:74728696 [GRCh37] Chr14:14q24.3 |
benign|likely benign |
NM_182894.3(VSX2):c.456-165G>C |
single nucleotide variant |
not provided [RCV001571854] |
Chr14:74245000 [GRCh38] Chr14:74711703 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.93G>A (p.Gly31=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000555435] |
Chr14:74239654 [GRCh38] Chr14:74706357 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.862C>T (p.Arg288Trp) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002504392]|Isolated microphthalmia 2 [RCV002542873]|Microphthalmia [RCV001277624] |
Chr14:74260695 [GRCh38] Chr14:74727398 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*8C>T |
single nucleotide variant |
Microphthalmia [RCV001278147] |
Chr14:74260927 [GRCh38] Chr14:74727630 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1447C>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000329415]|Microphthalmia, isolated, with coloboma 3 [RCV000384103] |
Chr14:74262366 [GRCh38] Chr14:74729069 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.533G>A (p.Arg178Gln) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000314806]|Microphthalmia, isolated, with coloboma 3 [RCV000354772] |
Chr14:74245242 [GRCh38] Chr14:74711945 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.-68G>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000374133]|Microphthalmia, isolated, with coloboma 3 [RCV000317090] |
Chr14:74239494 [GRCh38] Chr14:74706197 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*775A>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000333419]|Microphthalmia, isolated, with coloboma 3 [RCV000371788] |
Chr14:74261694 [GRCh38] Chr14:74728397 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.-43dup |
duplication |
Isolated microphthalmia 6 [RCV000285124]|VSX2-related Microphthalmia [RCV000403381] |
Chr14:74239513..74239514 [GRCh38] Chr14:74706216..74706217 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1753C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000394653]|Microphthalmia, isolated, with coloboma 3 [RCV000352460] |
Chr14:74262672 [GRCh38] Chr14:74729375 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1521T>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000380397]|Microphthalmia, isolated, with coloboma 3 [RCV000286194] |
Chr14:74262440 [GRCh38] Chr14:74729143 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.306C>A (p.Ser102Arg) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000311268]|Microphthalmia, isolated, with coloboma 3 [RCV000394955] |
Chr14:74239867 [GRCh38] Chr14:74706570 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1548_*1549del |
deletion |
Isolated microphthalmia 6 [RCV000341114]|VSX2-related Microphthalmia [RCV000376730] |
Chr14:74262464..74262465 [GRCh38] Chr14:74729167..74729168 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000553919]|Microphthalmia [RCV001277210]|Microphthalmia, isolated, with coloboma 3 [RCV001116467] |
Chr14:74239723 [GRCh38] Chr14:74706426 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*1757A>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000367064]|Microphthalmia, isolated, with coloboma 3 [RCV000312950] |
Chr14:74262676 [GRCh38] Chr14:74729379 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*13T>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000327924]|Microphthalmia, isolated, with coloboma 3 [RCV000384758] |
Chr14:74260932 [GRCh38] Chr14:74727635 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.175G>A (p.Gly59Arg) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000342420]|Microphthalmia, isolated, with coloboma 3 [RCV000394911] |
Chr14:74239736 [GRCh38] Chr14:74706439 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.798G>A (p.Ser266=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001086778]|not provided [RCV000593716] |
Chr14:74260631 [GRCh38] Chr14:74727334 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.504C>T (p.Asn168=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000542654]|Microphthalmia, isolated, with coloboma 3 [RCV001121468] |
Chr14:74245213 [GRCh38] Chr14:74711916 [GRCh37] Chr14:14q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 |
copy number gain |
See cases [RCV000446256] |
Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 |
copy number gain |
See cases [RCV000448557] |
Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) |
copy number gain |
See cases [RCV000512041] |
Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_182894.3(VSX2):c.91G>A (p.Gly31Arg) |
single nucleotide variant |
not provided [RCV000498525] |
Chr14:74239652 [GRCh38] Chr14:74706355 [GRCh37] Chr14:14q24.3 |
likely pathogenic |
GRCh37/hg19 14q24.3(chr14:74040231-76368547) |
copy number loss |
not provided [RCV000767572] |
Chr14:74040231..76368547 [GRCh37] Chr14:14q24.3 |
likely pathogenic |
NM_182894.3(VSX2):c.1013AGG[5] (p.Glu341dup) |
microsatellite |
Isolated microphthalmia 2 [RCV000644622]|Microphthalmia [RCV001277214]|not provided [RCV001672912] |
Chr14:74260844..74260845 [GRCh38] Chr14:74727547..74727548 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.226A>G (p.Met76Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003243548] |
Chr14:74239787 [GRCh38] Chr14:74706490 [GRCh37] Chr14:14q24.3 |
uncertain significance |
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 |
copy number gain |
See cases [RCV000512497] |
Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33 |
pathogenic |
NM_182894.3(VSX2):c.803G>A (p.Arg268Lys) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000644621] |
Chr14:74260636 [GRCh38] Chr14:74727339 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.455G>A (p.Arg152Lys) |
single nucleotide variant |
Retinitis pigmentosa [RCV000678660] |
Chr14:74241266 [GRCh38] Chr14:74707969 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.609G>A (p.Trp203Ter) |
single nucleotide variant |
Retinitis pigmentosa [RCV000678661] |
Chr14:74259631 [GRCh38] Chr14:74726334 [GRCh37] Chr14:14q24.3 |
pathogenic |
GRCh37/hg19 14q24.3(chr14:74219440-74883692)x3 |
copy number gain |
not provided [RCV000683615] |
Chr14:74219440..74883692 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.1013AGG[3] (p.Glu341del) |
microsatellite |
Isolated microphthalmia 2 [RCV000696969] |
Chr14:74260845..74260847 [GRCh38] Chr14:74727548..74727550 [GRCh37] Chr14:14q24.3 |
uncertain significance |
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 |
copy number gain |
not provided [RCV000738412] |
Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 |
copy number gain |
not provided [RCV000738413] |
Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 |
copy number gain |
not provided [RCV000738414] |
Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33 |
pathogenic |
NM_182894.3(VSX2):c.456-244_456-243insAAA |
insertion |
not provided [RCV001571124] |
Chr14:74244921..74244922 [GRCh38] Chr14:74711624..74711625 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-163G>C |
single nucleotide variant |
not provided [RCV001534898] |
Chr14:74245002 [GRCh38] Chr14:74711705 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.371-99G>A |
single nucleotide variant |
not provided [RCV001567038] |
Chr14:74241083 [GRCh38] Chr14:74707786 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.171C>G (p.Ala57=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000877246]|Microphthalmia [RCV001275438]|Microphthalmia, isolated, with coloboma 3 [RCV001116468] |
Chr14:74239732 [GRCh38] Chr14:74706435 [GRCh37] Chr14:14q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.858C>T (p.Asp286=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000937687]|Microphthalmia [RCV001275946] |
Chr14:74260691 [GRCh38] Chr14:74727394 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.90T>C (p.Thr30=) |
single nucleotide variant |
not provided [RCV000981060] |
Chr14:74239651 [GRCh38] Chr14:74706354 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1014G>A (p.Glu338=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001475503] |
Chr14:74260847 [GRCh38] Chr14:74727550 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.249G>A (p.Gly83=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000877147]|Microphthalmia [RCV001275439]|Microphthalmia, isolated, with coloboma 3 [RCV001117920] |
Chr14:74239810 [GRCh38] Chr14:74706513 [GRCh37] Chr14:14q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.72C>T (p.Gly24=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000900029] |
Chr14:74239633 [GRCh38] Chr14:74706336 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.267del (p.Gln90fs) |
deletion |
Isolated microphthalmia 2 [RCV001052936] |
Chr14:74239828 [GRCh38] Chr14:74706531 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.308T>C (p.Val103Ala) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000970596] |
Chr14:74239869 [GRCh38] Chr14:74706572 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1046C>T (p.Ala349Val) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000876336]|Microphthalmia [RCV001275949] |
Chr14:74260879 [GRCh38] Chr14:74727582 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.210C>A (p.Pro70=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000979052] |
Chr14:74239771 [GRCh38] Chr14:74706474 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.276C>A (p.Thr92=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001418957] |
Chr14:74239837 [GRCh38] Chr14:74706540 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1065G>A (p.Pro355=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000920163]|Microphthalmia [RCV001275950] |
Chr14:74260898 [GRCh38] Chr14:74727601 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.651G>A (p.Ala217=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000920161]|Microphthalmia [RCV001275442] |
Chr14:74259673 [GRCh38] Chr14:74726376 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.351C>T (p.Thr117=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001418474] |
Chr14:74239912 [GRCh38] Chr14:74706615 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.699C>T (p.Pro233=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000876079]|Microphthalmia, isolated, with coloboma 3 [RCV001116576] |
Chr14:74259721 [GRCh38] Chr14:74726424 [GRCh37] Chr14:14q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.638G>A (p.Ser213Asn) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000817859]|Microphthalmia [RCV001830794] |
Chr14:74259660 [GRCh38] Chr14:74726363 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.564G>A (p.Pro188=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000914221]|Microphthalmia [RCV001275441]|Microphthalmia, isolated, with coloboma 3 [RCV001116573] |
Chr14:74245273 [GRCh38] Chr14:74711976 [GRCh37] Chr14:14q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.760+74C>G |
single nucleotide variant |
not provided [RCV000834535] |
Chr14:74259856 [GRCh38] Chr14:74726559 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.*962G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118237]|Microphthalmia, isolated, with coloboma 3 [RCV001118236] |
Chr14:74261881 [GRCh38] Chr14:74728584 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1537G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001115196]|Microphthalmia, isolated, with coloboma 3 [RCV001115197] |
Chr14:74262456 [GRCh38] Chr14:74729159 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.-46G>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001116466]|Microphthalmia, isolated, with coloboma 3 [RCV001116465] |
Chr14:74239516 [GRCh38] Chr14:74706219 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.370+3A>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001119466]|Microphthalmia, isolated, with coloboma 3 [RCV001119465] |
Chr14:74239934 [GRCh38] Chr14:74706637 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*782C>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001116785]|Microphthalmia, isolated, with coloboma 3 [RCV001116786] |
Chr14:74261701 [GRCh38] Chr14:74728404 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NC_000014.8:g.(?_74111723)_(74727642_?)dup |
duplication |
Primary ciliary dyskinesia 16 [RCV000812680] |
Chr14:73645020..74260939 [GRCh38] Chr14:74111723..74727642 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NC_000014.9:g.(?_74239552)_(74245298_?)del |
deletion |
Isolated microphthalmia 2 [RCV000799426] |
Chr14:74239552..74245298 [GRCh38] Chr14:74706255..74712001 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.570C>T (p.Asp190=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001498495] |
Chr14:74245279 [GRCh38] Chr14:74711982 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.78G>A (p.Pro26=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001501058] |
Chr14:74239639 [GRCh38] Chr14:74706342 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.210del (p.Ala71fs) |
deletion |
Isolated microphthalmia 2 [RCV001206613] |
Chr14:74239768 [GRCh38] Chr14:74706471 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.539T>C (p.Met180Thr) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001242286]|Microphthalmia [RCV001835124] |
Chr14:74245248 [GRCh38] Chr14:74711951 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*250C>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118132]|Microphthalmia, isolated, with coloboma 3 [RCV001118131] |
Chr14:74261169 [GRCh38] Chr14:74727872 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1073G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118238]|Microphthalmia, isolated, with coloboma 3 [RCV001118239] |
Chr14:74261992 [GRCh38] Chr14:74728695 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.456-283GT[23] |
microsatellite |
not provided [RCV001641464] |
Chr14:74244882..74244883 [GRCh38] Chr14:74711585..74711586 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.649G>C (p.Ala217Pro) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001116575]|Microphthalmia, isolated, with coloboma 3 [RCV001116574] |
Chr14:74259671 [GRCh38] Chr14:74726374 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.456-219GT[14] |
microsatellite |
not provided [RCV001689416] |
Chr14:74244946..74244953 [GRCh38] Chr14:74711649..74711656 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-233A>C |
single nucleotide variant |
not provided [RCV001569453] |
Chr14:74244932 [GRCh38] Chr14:74711635 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-161G>C |
single nucleotide variant |
not provided [RCV001547983] |
Chr14:74245004 [GRCh38] Chr14:74711707 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.580-45A>C |
single nucleotide variant |
not provided [RCV001548130] |
Chr14:74259557 [GRCh38] Chr14:74726260 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-283GT[20] |
microsatellite |
not provided [RCV001635730] |
Chr14:74244882..74244889 [GRCh38] Chr14:74711585..74711592 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-219GT[17] |
microsatellite |
not provided [RCV001667924] |
Chr14:74244946..74244947 [GRCh38] Chr14:74711649..74711650 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-219GT[10] |
microsatellite |
not provided [RCV001560543] |
Chr14:74244946..74244961 [GRCh38] Chr14:74711649..74711664 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+86G>A |
single nucleotide variant |
not provided [RCV001615522] |
Chr14:74259868 [GRCh38] Chr14:74726571 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-283GT[22] |
microsatellite |
not provided [RCV001695347] |
Chr14:74244882..74244885 [GRCh38] Chr14:74711585..74711588 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-212T>A |
single nucleotide variant |
not provided [RCV001560966] |
Chr14:74244953 [GRCh38] Chr14:74711656 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-183GA[12] |
microsatellite |
not provided [RCV001639147] |
Chr14:74244982..74244983 [GRCh38] Chr14:74711685..74711686 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-186_456-181del |
deletion |
not provided [RCV001546554] |
Chr14:74244978..74244983 [GRCh38] Chr14:74711681..74711686 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.105G>A (p.Gln35=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001416156] |
Chr14:74239666 [GRCh38] Chr14:74706369 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.117C>T (p.Gly39=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001395429] |
Chr14:74239678 [GRCh38] Chr14:74706381 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1002C>T (p.Thr334=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000930236]|Microphthalmia [RCV001275948] |
Chr14:74260835 [GRCh38] Chr14:74727538 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.411A>G (p.Lys137=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000942611] |
Chr14:74241222 [GRCh38] Chr14:74707925 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1047G>A (p.Ala349=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV000877016] |
Chr14:74260880 [GRCh38] Chr14:74727583 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.*10C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001121564]|Microphthalmia, isolated, with coloboma 3 [RCV001121563] |
Chr14:74260929 [GRCh38] Chr14:74727632 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.456-214T>A |
single nucleotide variant |
not provided [RCV001563306] |
Chr14:74244951 [GRCh38] Chr14:74711654 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-219GT[16] |
microsatellite |
not provided [RCV001570646] |
Chr14:74244946..74244949 [GRCh38] Chr14:74711649..74711652 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-188_456-177del |
deletion |
not provided [RCV001578174] |
Chr14:74244976..74244987 [GRCh38] Chr14:74711679..74711690 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+216C>T |
single nucleotide variant |
not provided [RCV001677734] |
Chr14:74241482 [GRCh38] Chr14:74708185 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-283GT[15] |
microsatellite |
not provided [RCV001594212] |
Chr14:74244882..74244899 [GRCh38] Chr14:74711585..74711602 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-157_456-154del |
deletion |
not provided [RCV001561364] |
Chr14:74245005..74245008 [GRCh38] Chr14:74711708..74711711 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-183GA[14] |
microsatellite |
not provided [RCV001659066] |
Chr14:74244981..74244982 [GRCh38] Chr14:74711684..74711685 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+225A>G |
single nucleotide variant |
not provided [RCV001660897] |
Chr14:74260007 [GRCh38] Chr14:74726710 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-140_456-139insCA |
insertion |
not provided [RCV001639184] |
Chr14:74245024..74245025 [GRCh38] Chr14:74711727..74711728 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-157C>G |
single nucleotide variant |
not provided [RCV001676397] |
Chr14:74245008 [GRCh38] Chr14:74711711 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-221A>G |
single nucleotide variant |
not provided [RCV001640828] |
Chr14:74244944 [GRCh38] Chr14:74711647 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.579+276G>A |
single nucleotide variant |
not provided [RCV001649987] |
Chr14:74245564 [GRCh38] Chr14:74712267 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-162_456-161insCA |
insertion |
not provided [RCV001674001] |
Chr14:74245002..74245003 [GRCh38] Chr14:74711705..74711706 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-219GT[15] |
microsatellite |
not provided [RCV001676697] |
Chr14:74244946..74244951 [GRCh38] Chr14:74711649..74711654 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-283GT[21] |
microsatellite |
not provided [RCV001635825] |
Chr14:74244882..74244887 [GRCh38] Chr14:74711585..74711590 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-190_456-177del |
deletion |
not provided [RCV001588248] |
Chr14:74244974..74244987 [GRCh38] Chr14:74711677..74711690 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+149C>T |
single nucleotide variant |
not provided [RCV001710396] |
Chr14:74259931 [GRCh38] Chr14:74726634 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.*1718T>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118341]|Microphthalmia, isolated, with coloboma 3 [RCV001118342] |
Chr14:74262637 [GRCh38] Chr14:74729340 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.371-14C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001119467]|Microphthalmia, isolated, with coloboma 3 [RCV001119468] |
Chr14:74241168 [GRCh38] Chr14:74707871 [GRCh37] Chr14:14q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*430C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001119671]|Microphthalmia, isolated, with coloboma 3 [RCV001119670] |
Chr14:74261349 [GRCh38] Chr14:74728052 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1252C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001119778]|Microphthalmia, isolated, with coloboma 3 [RCV001119779]|not provided [RCV002285445] |
Chr14:74262171 [GRCh38] Chr14:74728874 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.*1396C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001121758]|Microphthalmia, isolated, with coloboma 3 [RCV001121759] |
Chr14:74262315 [GRCh38] Chr14:74729018 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*602T>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001121659]|Microphthalmia, isolated, with coloboma 3 [RCV001121658] |
Chr14:74261521 [GRCh38] Chr14:74728224 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.456-246_456-173del |
deletion |
not provided [RCV001590250] |
Chr14:74244918..74244991 [GRCh38] Chr14:74711621..74711694 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+209A>C |
single nucleotide variant |
not provided [RCV001615000] |
Chr14:74259991 [GRCh38] Chr14:74726694 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-190_456-181del |
deletion |
not provided [RCV001615004] |
Chr14:74244974..74244983 [GRCh38] Chr14:74711677..74711686 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-184T>A |
single nucleotide variant |
not provided [RCV001647929] |
Chr14:74244981 [GRCh38] Chr14:74711684 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-157_456-156del |
deletion |
not provided [RCV001710860] |
Chr14:74245007..74245008 [GRCh38] Chr14:74711710..74711711 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-246T>A |
single nucleotide variant |
not provided [RCV001546331] |
Chr14:74244919 [GRCh38] Chr14:74711622 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-233A>G |
single nucleotide variant |
not provided [RCV001641096] |
Chr14:74244932 [GRCh38] Chr14:74711635 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.370+301G>A |
single nucleotide variant |
not provided [RCV001586161] |
Chr14:74240232 [GRCh38] Chr14:74706935 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.580-44G>A |
single nucleotide variant |
not provided [RCV001546947] |
Chr14:74259558 [GRCh38] Chr14:74726261 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-218T>A |
single nucleotide variant |
not provided [RCV001574720] |
Chr14:74244947 [GRCh38] Chr14:74711650 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.*641C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001116783]|Microphthalmia, isolated, with coloboma 3 [RCV001116784] |
Chr14:74261560 [GRCh38] Chr14:74728263 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.1025C>T (p.Ala342Val) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001247142]|Microphthalmia [RCV001278146] |
Chr14:74260858 [GRCh38] Chr14:74727561 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.760+11G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118026]|Microphthalmia, isolated, with coloboma 3 [RCV001118025] |
Chr14:74259793 [GRCh38] Chr14:74726496 [GRCh37] Chr14:14q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_182894.3(VSX2):c.*70C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118127]|Microphthalmia, isolated, with coloboma 3 [RCV001118128] |
Chr14:74260989 [GRCh38] Chr14:74727692 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*150G>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118129]|Microphthalmia, isolated, with coloboma 3 [RCV001118130] |
Chr14:74261069 [GRCh38] Chr14:74727772 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*1640T>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001118340]|Microphthalmia, isolated, with coloboma 3 [RCV001118339] |
Chr14:74262559 [GRCh38] Chr14:74729262 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.455+3G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001119470]|Microphthalmia, isolated, with coloboma 3 [RCV001119469] |
Chr14:74241269 [GRCh38] Chr14:74707972 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*291A>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001119669]|Microphthalmia, isolated, with coloboma 3 [RCV001119668]|not provided [RCV001546598] |
Chr14:74261210 [GRCh38] Chr14:74727913 [GRCh37] Chr14:14q24.3 |
likely benign|uncertain significance |
NM_182894.3(VSX2):c.505G>A (p.Glu169Lys) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001121469]|Microphthalmia, isolated, with coloboma 3 [RCV001121470]|not provided [RCV001358316] |
Chr14:74245214 [GRCh38] Chr14:74711917 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.*590C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001121657]|Microphthalmia, isolated, with coloboma 3 [RCV001121656] |
Chr14:74261509 [GRCh38] Chr14:74728212 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.397C>T (p.Arg133Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001201789] |
Chr14:74241208 [GRCh38] Chr14:74707911 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.421A>T (p.Asn141Tyr) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001034815]|Microphthalmia [RCV001832367] |
Chr14:74241232 [GRCh38] Chr14:74707935 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.173C>A (p.Pro58His) |
single nucleotide variant |
Microphthalmia [RCV001277621] |
Chr14:74239734 [GRCh38] Chr14:74706437 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.294C>G (p.Ser98=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001392520] |
Chr14:74239855 [GRCh38] Chr14:74706558 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.135G>A (p.Pro45=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001396742] |
Chr14:74239696 [GRCh38] Chr14:74706399 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.470C>T (p.Ser157Phe) |
single nucleotide variant |
Microphthalmia [RCV001277622] |
Chr14:74245179 [GRCh38] Chr14:74711882 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.456-244T>A |
single nucleotide variant |
not provided [RCV001538256] |
Chr14:74244921 [GRCh38] Chr14:74711624 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.552A>G (p.Lys184=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001396452] |
Chr14:74245261 [GRCh38] Chr14:74711964 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+7G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001423154] |
Chr14:74259789 [GRCh38] Chr14:74726492 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+9C>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001423167] |
Chr14:74245297 [GRCh38] Chr14:74712000 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.859G>C (p.Glu287Gln) |
single nucleotide variant |
Microphthalmia [RCV001277623] |
Chr14:74260692 [GRCh38] Chr14:74727395 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.598C>T (p.Arg200Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001915878] |
Chr14:74259620 [GRCh38] Chr14:74726323 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.757C>T (p.Leu253=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001395048] |
Chr14:74259779 [GRCh38] Chr14:74726482 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.396T>C (p.Asp132=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001421558] |
Chr14:74241207 [GRCh38] Chr14:74707910 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.327C>T (p.Gly109=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001474961] |
Chr14:74239888 [GRCh38] Chr14:74706591 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.132C>G (p.Pro44=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001404491] |
Chr14:74239693 [GRCh38] Chr14:74706396 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1056C>T (p.Leu352=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001465012] |
Chr14:74260889 [GRCh38] Chr14:74727592 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.6G>A (p.Thr2=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001490516] |
Chr14:74239567 [GRCh38] Chr14:74706270 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.78G>T (p.Pro26=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001492320] |
Chr14:74239639 [GRCh38] Chr14:74706342 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.618G>A (p.Arg206=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001454831] |
Chr14:74259640 [GRCh38] Chr14:74726343 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.972G>T (p.Val324=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001475253] |
Chr14:74260805 [GRCh38] Chr14:74727508 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+10C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001499935] |
Chr14:74241276 [GRCh38] Chr14:74707979 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.448C>A (p.Arg150=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001458775] |
Chr14:74241259 [GRCh38] Chr14:74707962 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.669G>A (p.Gly223=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001476170] |
Chr14:74259691 [GRCh38] Chr14:74726394 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.204C>G (p.Leu68=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001451640] |
Chr14:74239765 [GRCh38] Chr14:74706468 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+8C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001454426] |
Chr14:74241274 [GRCh38] Chr14:74707977 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.564G>T (p.Pro188=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001451798] |
Chr14:74245273 [GRCh38] Chr14:74711976 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.360G>A (p.Thr120=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001431137] |
Chr14:74239921 [GRCh38] Chr14:74706624 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.213G>C (p.Ala71=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001471638] |
Chr14:74239774 [GRCh38] Chr14:74706477 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.531C>A (p.Ala177=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001491530] |
Chr14:74245240 [GRCh38] Chr14:74711943 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+33dup |
duplication |
not provided [RCV001536423] |
Chr14:74259812..74259813 [GRCh38] Chr14:74726515..74726516 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.531C>T (p.Ala177=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001499834] |
Chr14:74245240 [GRCh38] Chr14:74711943 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+175G>C |
single nucleotide variant |
not provided [RCV001538662] |
Chr14:74241441 [GRCh38] Chr14:74708144 [GRCh37] Chr14:14q24.3 |
benign |
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 |
copy number gain |
14q22.2q24.3 duplication [RCV001506967] |
Chr14:54654001..75828024 [GRCh37] Chr14:14q22.2-24.3 |
likely pathogenic |
NM_182894.3(VSX2):c.948C>T (p.His316=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001469551] |
Chr14:74260781 [GRCh38] Chr14:74727484 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.810C>T (p.Pro270=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001439938] |
Chr14:74260643 [GRCh38] Chr14:74727346 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.792C>T (p.Ala264=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001429260] |
Chr14:74260625 [GRCh38] Chr14:74727328 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-7C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001500833] |
Chr14:74245158 [GRCh38] Chr14:74711861 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.18G>A (p.Gly6=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001460938] |
Chr14:74239579 [GRCh38] Chr14:74706282 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1083T>A (p.Ala361=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001504991] |
Chr14:74260916 [GRCh38] Chr14:74727619 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.906G>A (p.Arg302=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001426976] |
Chr14:74260739 [GRCh38] Chr14:74727442 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.804G>A (p.Arg268=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001437859] |
Chr14:74260637 [GRCh38] Chr14:74727340 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.580-7C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001506465] |
Chr14:74259595 [GRCh38] Chr14:74726298 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.231G>T (p.Gly77=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001486293] |
Chr14:74239792 [GRCh38] Chr14:74706495 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.994C>A (p.Arg332=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001456716] |
Chr14:74260827 [GRCh38] Chr14:74727530 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.267G>T (p.Thr89=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001498924] |
Chr14:74239828 [GRCh38] Chr14:74706531 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.584G>A (p.Trp195Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001384317] |
Chr14:74259606 [GRCh38] Chr14:74726309 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.222C>A (p.Gly74=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001448464] |
Chr14:74239783 [GRCh38] Chr14:74706486 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.603C>T (p.Ala201=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001432619] |
Chr14:74259625 [GRCh38] Chr14:74726328 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.318G>A (p.Gln106=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001446015] |
Chr14:74239879 [GRCh38] Chr14:74706582 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.222C>T (p.Gly74=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001411901] |
Chr14:74239783 [GRCh38] Chr14:74706486 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.156G>T (p.Ala52=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001420071] |
Chr14:74239717 [GRCh38] Chr14:74706420 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.666C>T (p.Tyr222=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001432796] |
Chr14:74259688 [GRCh38] Chr14:74726391 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.6G>C (p.Thr2=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001430715] |
Chr14:74239567 [GRCh38] Chr14:74706270 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.822C>G (p.Arg274=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001407342] |
Chr14:74260655 [GRCh38] Chr14:74727358 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.780G>A (p.Leu260=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001425751] |
Chr14:74260613 [GRCh38] Chr14:74727316 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.322T>C (p.Leu108=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001430640] |
Chr14:74239883 [GRCh38] Chr14:74706586 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.69G>A (p.Gly23=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001434409] |
Chr14:74239630 [GRCh38] Chr14:74706333 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1086G>A (p.Ter362=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001410445] |
Chr14:74260919 [GRCh38] Chr14:74727622 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-9T>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001410346] |
Chr14:74245156 [GRCh38] Chr14:74711859 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.921G>A (p.Ala307=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001417512] |
Chr14:74260754 [GRCh38] Chr14:74727457 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.525C>T (p.Val175=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001397819] |
Chr14:74245234 [GRCh38] Chr14:74711937 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.870C>T (p.Pro290=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001444868] |
Chr14:74260703 [GRCh38] Chr14:74727406 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.288G>T (p.Val96=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001447731] |
Chr14:74239849 [GRCh38] Chr14:74706552 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.606G>A (p.Lys202=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001411314] |
Chr14:74259628 [GRCh38] Chr14:74726331 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.720C>T (p.Ala240=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001448183] |
Chr14:74259742 [GRCh38] Chr14:74726445 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-216T>A |
single nucleotide variant |
not provided [RCV001581634] |
Chr14:74244949 [GRCh38] Chr14:74711652 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-156AG[11] |
microsatellite |
not provided [RCV001587875] |
Chr14:74245008..74245009 [GRCh38] Chr14:74711711..74711712 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-238T>A |
single nucleotide variant |
not provided [RCV001619438] |
Chr14:74244927 [GRCh38] Chr14:74711630 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.192G>A (p.Ala64=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001499482] |
Chr14:74239753 [GRCh38] Chr14:74706456 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-242T>A |
single nucleotide variant |
not provided [RCV001716539] |
Chr14:74244923 [GRCh38] Chr14:74711626 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.760+10C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001491399] |
Chr14:74259792 [GRCh38] Chr14:74726495 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-182A>T |
single nucleotide variant |
not provided [RCV001655510] |
Chr14:74244983 [GRCh38] Chr14:74711686 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.184C>T (p.Leu62=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001452149] |
Chr14:74239745 [GRCh38] Chr14:74706448 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.711C>T (p.Leu237=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001452283] |
Chr14:74259733 [GRCh38] Chr14:74726436 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.246G>A (p.Gly82=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001487629] |
Chr14:74239807 [GRCh38] Chr14:74706510 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-240T>A |
single nucleotide variant |
not provided [RCV001654899] |
Chr14:74244925 [GRCh38] Chr14:74711628 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.456-183GA[10] |
microsatellite |
not provided [RCV001589743] |
Chr14:74244982..74244987 [GRCh38] Chr14:74711685..74711690 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.612G>A (p.Arg204=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001454100] |
Chr14:74259634 [GRCh38] Chr14:74726337 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.162C>T (p.Asp54=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001477433] |
Chr14:74239723 [GRCh38] Chr14:74706426 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+7C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001502891] |
Chr14:74241273 [GRCh38] Chr14:74707976 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.819A>G (p.Glu273=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001487320] |
Chr14:74260652 [GRCh38] Chr14:74727355 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.762G>A (p.Gly254=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001464698] |
Chr14:74260595 [GRCh38] Chr14:74727298 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.240G>C (p.Gly80=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001467197] |
Chr14:74239801 [GRCh38] Chr14:74706504 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1017G>A (p.Glu339=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001478864] |
Chr14:74260850 [GRCh38] Chr14:74727553 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.654G>A (p.Glu218=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001465983] |
Chr14:74259676 [GRCh38] Chr14:74726379 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1002C>G (p.Thr334=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001498590] |
Chr14:74260835 [GRCh38] Chr14:74727538 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.873C>T (p.Asp291=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001434493] |
Chr14:74260706 [GRCh38] Chr14:74727409 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.165C>A (p.Gly55=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001400352] |
Chr14:74239726 [GRCh38] Chr14:74706429 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.267G>A (p.Thr89=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001419566] |
Chr14:74239828 [GRCh38] Chr14:74706531 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.336G>C (p.Ser112=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001437300] |
Chr14:74239897 [GRCh38] Chr14:74706600 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.42C>A (p.Ser14=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001416443] |
Chr14:74239603 [GRCh38] Chr14:74706306 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.177G>A (p.Gly59=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001504137] |
Chr14:74239738 [GRCh38] Chr14:74706441 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.117C>A (p.Gly39=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001416803] |
Chr14:74239678 [GRCh38] Chr14:74706381 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.294C>T (p.Ser98=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001466853] |
Chr14:74239855 [GRCh38] Chr14:74706558 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+8C>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001456698] |
Chr14:74245296 [GRCh38] Chr14:74711999 [GRCh37] Chr14:14q24.3 |
likely benign |
GRCh37/hg19 14q24.3(chr14:74490251-75116040)x3 |
copy number gain |
not provided [RCV001827622] |
Chr14:74490251..75116040 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.654G>T (p.Glu218Asp) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001946535] |
Chr14:74259676 [GRCh38] Chr14:74726379 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.179dup (p.His60fs) |
duplication |
Isolated microphthalmia 2 [RCV001910499] |
Chr14:74239739..74239740 [GRCh38] Chr14:74706442..74706443 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.224del (p.Gly75fs) |
deletion |
Isolated microphthalmia 2 [RCV001905978] |
Chr14:74239784 [GRCh38] Chr14:74706487 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.87C>A (p.Cys29Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001942909] |
Chr14:74239648 [GRCh38] Chr14:74706351 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.59del (p.Ser20fs) |
deletion |
Isolated microphthalmia 2 [RCV002000144] |
Chr14:74239620 [GRCh38] Chr14:74706323 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.51G>A (p.Val17=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001994972] |
Chr14:74239612 [GRCh38] Chr14:74706315 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.84del (p.Arg28fs) |
deletion |
Isolated microphthalmia 2 [RCV001879333] |
Chr14:74239644 [GRCh38] Chr14:74706347 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.608G>A (p.Trp203Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001993138] |
Chr14:74259630 [GRCh38] Chr14:74726333 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.589C>T (p.Gln197Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001931412] |
Chr14:74259611 [GRCh38] Chr14:74726314 [GRCh37] Chr14:14q24.3 |
pathogenic |
NC_000014.8:g.(?_74707875)_(74712001_?)del |
deletion |
Isolated microphthalmia 2 [RCV001956123] |
Chr14:74707875..74712001 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.50_51insAT (p.Ala18fs) |
insertion |
Isolated microphthalmia 2 [RCV001925563] |
Chr14:74239610..74239611 [GRCh38] Chr14:74706313..74706314 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.596G>A (p.Arg199His) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001955544] |
Chr14:74259618 [GRCh38] Chr14:74726321 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.371-1G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001884138]|Microphthalmia, isolated, with coloboma 3 [RCV002077342] |
Chr14:74241181 [GRCh38] Chr14:74707884 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.1017G>C (p.Glu339Asp) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV001976363] |
Chr14:74260850 [GRCh38] Chr14:74727553 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.201G>C (p.Val67=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002107141] |
Chr14:74239762 [GRCh38] Chr14:74706465 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.183G>A (p.Leu61=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002167925] |
Chr14:74239744 [GRCh38] Chr14:74706447 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.660G>A (p.Gly220=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002130487] |
Chr14:74259682 [GRCh38] Chr14:74726385 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.882G>A (p.Ala294=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002167320] |
Chr14:74260715 [GRCh38] Chr14:74727418 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1044G>A (p.Pro348=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002117210] |
Chr14:74260877 [GRCh38] Chr14:74727580 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.840C>T (p.Leu280=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002132642] |
Chr14:74260673 [GRCh38] Chr14:74727376 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1023G>A (p.Glu341=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002116528] |
Chr14:74260856 [GRCh38] Chr14:74727559 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.321A>G (p.Pro107=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002153277] |
Chr14:74239882 [GRCh38] Chr14:74706585 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.300G>A (p.Pro100=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002151616] |
Chr14:74239861 [GRCh38] Chr14:74706564 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.616C>A (p.Arg206=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002152833] |
Chr14:74259638 [GRCh38] Chr14:74726341 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.480A>G (p.Leu160=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002113946] |
Chr14:74245189 [GRCh38] Chr14:74711892 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1026C>T (p.Ala342=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002076055] |
Chr14:74260859 [GRCh38] Chr14:74727562 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.370+10G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002096186] |
Chr14:74239941 [GRCh38] Chr14:74706644 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.598C>A (p.Arg200=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002131571] |
Chr14:74259620 [GRCh38] Chr14:74726323 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.189G>T (p.Ala63=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002113518] |
Chr14:74239750 [GRCh38] Chr14:74706453 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.459A>T (p.Thr153=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002150226] |
Chr14:74245168 [GRCh38] Chr14:74711871 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.397C>A (p.Arg133=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002177388] |
Chr14:74241208 [GRCh38] Chr14:74707911 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.48A>T (p.Thr16=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002178422] |
Chr14:74239609 [GRCh38] Chr14:74706312 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.306C>T (p.Ser102=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002118795] |
Chr14:74239867 [GRCh38] Chr14:74706570 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1074G>A (p.Glu358=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002083660] |
Chr14:74260907 [GRCh38] Chr14:74727610 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.813G>A (p.Glu271=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002183778] |
Chr14:74260646 [GRCh38] Chr14:74727349 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.483G>A (p.Glu161=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002098127] |
Chr14:74245192 [GRCh38] Chr14:74711895 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.371-9G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002136111] |
Chr14:74241173 [GRCh38] Chr14:74707876 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.867C>T (p.Gly289=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002183032] |
Chr14:74260700 [GRCh38] Chr14:74727403 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+9C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002203203] |
Chr14:74259791 [GRCh38] Chr14:74726494 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.600A>C (p.Arg200=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002183592] |
Chr14:74259622 [GRCh38] Chr14:74726325 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.600A>G (p.Arg200=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002101160] |
Chr14:74259622 [GRCh38] Chr14:74726325 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.486G>A (p.Glu162=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002163088] |
Chr14:74245195 [GRCh38] Chr14:74711898 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.778C>T (p.Leu260=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002140590] |
Chr14:74260611 [GRCh38] Chr14:74727314 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.144C>T (p.His48=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002103050] |
Chr14:74239705 [GRCh38] Chr14:74706408 [GRCh37] Chr14:14q24.3 |
likely benign |
NC_000014.8:g.(?_74726295)_(74727632_?)del |
deletion |
Isolated microphthalmia 2 [RCV003113928] |
Chr14:74726295..74727632 [GRCh37] Chr14:14q24.3 |
pathogenic |
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 |
copy number gain |
See cases [RCV002286356] |
Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33 |
pathogenic |
NM_182894.3(VSX2):c.456-156AG[6] |
microsatellite |
not provided [RCV002286035] |
Chr14:74245009..74245016 [GRCh38] Chr14:74711712..74711719 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.274A>T (p.Thr92Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003261123] |
Chr14:74239835 [GRCh38] Chr14:74706538 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.474C>T (p.Tyr158=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002862740] |
Chr14:74245183 [GRCh38] Chr14:74711886 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.580G>A (p.Val194Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002836639] |
Chr14:74259602 [GRCh38] Chr14:74726305 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.104A>G (p.Gln35Arg) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002771115] |
Chr14:74239665 [GRCh38] Chr14:74706368 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.960G>T (p.Val320=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003017581] |
Chr14:74260793 [GRCh38] Chr14:74727496 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.669G>T (p.Gly223=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003017584] |
Chr14:74259691 [GRCh38] Chr14:74726394 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.148C>A (p.Arg50=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003033729] |
Chr14:74239709 [GRCh38] Chr14:74706412 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.84G>A (p.Arg28=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002770975] |
Chr14:74239645 [GRCh38] Chr14:74706348 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.240G>A (p.Gly80=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003034990] |
Chr14:74239801 [GRCh38] Chr14:74706504 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.134C>T (p.Pro45Leu) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002904315] |
Chr14:74239695 [GRCh38] Chr14:74706398 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.346G>A (p.Asp116Asn) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002696323] |
Chr14:74239907 [GRCh38] Chr14:74706610 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.201G>T (p.Val67=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002871503] |
Chr14:74239762 [GRCh38] Chr14:74706465 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.929G>C (p.Arg310Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002759709] |
Chr14:74260762 [GRCh38] Chr14:74727465 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.967A>G (p.Thr323Ala) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002695907] |
Chr14:74260800 [GRCh38] Chr14:74727503 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.419del (p.Ala139_Leu140insTer) |
deletion |
Isolated microphthalmia 2 [RCV002885006] |
Chr14:74241228 [GRCh38] Chr14:74707931 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.513del (p.Tyr172fs) |
deletion |
Isolated microphthalmia 2 [RCV002756871] |
Chr14:74245222 [GRCh38] Chr14:74711925 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.300G>T (p.Pro100=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002706572] |
Chr14:74239861 [GRCh38] Chr14:74706564 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.297C>T (p.Asp99=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002780692] |
Chr14:74239858 [GRCh38] Chr14:74706561 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.580-12G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002927579] |
Chr14:74259590 [GRCh38] Chr14:74726293 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.580-2A>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003035344] |
Chr14:74259600 [GRCh38] Chr14:74726303 [GRCh37] Chr14:14q24.3 |
likely pathogenic |
NM_182894.3(VSX2):c.696G>A (p.Leu232=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003059784] |
Chr14:74259718 [GRCh38] Chr14:74726421 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.15del (p.Glu7fs) |
deletion |
Isolated microphthalmia 2 [RCV002852768] |
Chr14:74239576 [GRCh38] Chr14:74706279 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.286G>C (p.Val96Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002664852] |
Chr14:74239847 [GRCh38] Chr14:74706550 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.174C>A (p.Pro58=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002872120] |
Chr14:74239735 [GRCh38] Chr14:74706438 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.885C>T (p.Ala295=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002623708] |
Chr14:74260718 [GRCh38] Chr14:74727421 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.126G>A (p.Lys42=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002871637] |
Chr14:74239687 [GRCh38] Chr14:74706390 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.8G>A (p.Gly3Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002644815] |
Chr14:74239569 [GRCh38] Chr14:74706272 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.471C>A (p.Ser157=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002872777] |
Chr14:74245180 [GRCh38] Chr14:74711883 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.135G>C (p.Pro45=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002623738] |
Chr14:74239696 [GRCh38] Chr14:74706399 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.684C>T (p.His228=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002575906] |
Chr14:74259706 [GRCh38] Chr14:74726409 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.582C>T (p.Val194=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003022196] |
Chr14:74259604 [GRCh38] Chr14:74726307 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.240G>T (p.Gly80=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002933628] |
Chr14:74239801 [GRCh38] Chr14:74706504 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+11del |
deletion |
Isolated microphthalmia 2 [RCV003063819] |
Chr14:74241273 [GRCh38] Chr14:74707976 [GRCh37] Chr14:14q24.3 |
benign |
NM_182894.3(VSX2):c.171C>T (p.Ala57=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002627534] |
Chr14:74239732 [GRCh38] Chr14:74706435 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-18C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002647847] |
Chr14:74245147 [GRCh38] Chr14:74711850 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1051A>G (p.Arg351Gly) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002895686] |
Chr14:74260884 [GRCh38] Chr14:74727587 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.840C>G (p.Leu280=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002671584] |
Chr14:74260673 [GRCh38] Chr14:74727376 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.164G>A (p.Gly55Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002935472] |
Chr14:74239725 [GRCh38] Chr14:74706428 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.264C>G (p.Tyr88Ter) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002835089] |
Chr14:74239825 [GRCh38] Chr14:74706528 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.159C>T (p.Leu53=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003064071] |
Chr14:74239720 [GRCh38] Chr14:74706423 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.754C>T (p.Leu252=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002716310] |
Chr14:74259776 [GRCh38] Chr14:74726479 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.523G>A (p.Val175Ile) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002628668] |
Chr14:74245232 [GRCh38] Chr14:74711935 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.525C>G (p.Val175=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002715556] |
Chr14:74245234 [GRCh38] Chr14:74711937 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.667G>C (p.Gly223Arg) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003026986] |
Chr14:74259689 [GRCh38] Chr14:74726392 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.795G>A (p.Glu265=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002899252] |
Chr14:74260628 [GRCh38] Chr14:74727331 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.558G>A (p.Glu186=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002898623] |
Chr14:74245267 [GRCh38] Chr14:74711970 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.409A>G (p.Lys137Glu) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002649481] |
Chr14:74241220 [GRCh38] Chr14:74707923 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.617G>A (p.Arg206Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002633574]|Isolated microphthalmia 2 [RCV002633573] |
Chr14:74259639 [GRCh38] Chr14:74726342 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002655843] |
Chr14:74239754 [GRCh38] Chr14:74706457 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.580-8A>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV002583985] |
Chr14:74259594 [GRCh38] Chr14:74726297 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.1069C>G (p.Leu357Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003200638] |
Chr14:74260902 [GRCh38] Chr14:74727605 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.664dup (p.Tyr222fs) |
duplication |
not provided [RCV003134761] |
Chr14:74259685..74259686 [GRCh38] Chr14:74726388..74726389 [GRCh37] Chr14:14q24.3 |
likely pathogenic |
NM_182894.3(VSX2):c.994C>T (p.Arg332Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003185585] |
Chr14:74260827 [GRCh38] Chr14:74727530 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.881C>T (p.Ala294Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003359243] |
Chr14:74260714 [GRCh38] Chr14:74727417 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.775T>C (p.Ser259Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003363642] |
Chr14:74260608 [GRCh38] Chr14:74727311 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.690C>T (p.Ile230=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003873139] |
Chr14:74259712 [GRCh38] Chr14:74726415 [GRCh37] Chr14:14q24.3 |
likely benign |
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 |
copy number gain |
not provided [RCV003485036] |
Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33 |
pathogenic |
GRCh37/hg19 14q24.3(chr14:74386185-74726710)x3 |
copy number gain |
not provided [RCV003485043] |
Chr14:74386185..74726710 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.483G>T (p.Glu161Asp) |
single nucleotide variant |
VSX2-related condition [RCV003392734] |
Chr14:74245192 [GRCh38] Chr14:74711895 [GRCh37] Chr14:14q24.3 |
uncertain significance |
NM_182894.3(VSX2):c.579+14G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630249] |
Chr14:74245302 [GRCh38] Chr14:74712005 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.390C>T (p.Ser130=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630254] |
Chr14:74241201 [GRCh38] Chr14:74707904 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.961C>T (p.Leu321=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630383] |
Chr14:74260794 [GRCh38] Chr14:74727497 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.627C>T (p.Cys209=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629724] |
Chr14:74259649 [GRCh38] Chr14:74726352 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.760+15C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629751] |
Chr14:74259797 [GRCh38] Chr14:74726500 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+14G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003876817] |
Chr14:74245302 [GRCh38] Chr14:74712005 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.189G>A (p.Ala63=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629902] |
Chr14:74239750 [GRCh38] Chr14:74706453 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.255T>C (p.Pro85=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629636] |
Chr14:74239816 [GRCh38] Chr14:74706519 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.456-14C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003878495] |
Chr14:74245151 [GRCh38] Chr14:74711854 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+20C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629017] |
Chr14:74245308 [GRCh38] Chr14:74712011 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.4del (p.Thr2fs) |
deletion |
Isolated microphthalmia 2 [RCV003630329] |
Chr14:74239565 [GRCh38] Chr14:74706268 [GRCh37] Chr14:14q24.3 |
pathogenic |
NM_182894.3(VSX2):c.455+1G>A |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630373] |
Chr14:74241267 [GRCh38] Chr14:74707970 [GRCh37] Chr14:14q24.3 |
likely pathogenic |
NM_182894.3(VSX2):c.642T>C (p.Ser214=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003628998] |
Chr14:74259664 [GRCh38] Chr14:74726367 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.969T>C (p.Thr323=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630388] |
Chr14:74260802 [GRCh38] Chr14:74727505 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.444G>A (p.Lys148=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629825] |
Chr14:74241255 [GRCh38] Chr14:74707958 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+11T>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629911] |
Chr14:74245299 [GRCh38] Chr14:74712002 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.867C>A (p.Gly289=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629985] |
Chr14:74260700 [GRCh38] Chr14:74727403 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.414T>C (p.Ser138=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630174] |
Chr14:74241225 [GRCh38] Chr14:74707928 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.198A>G (p.Ser66=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630226] |
Chr14:74239759 [GRCh38] Chr14:74706462 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.96C>T (p.Phe32=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629635] |
Chr14:74239657 [GRCh38] Chr14:74706360 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.930G>A (p.Arg310=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629637] |
Chr14:74260763 [GRCh38] Chr14:74727466 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.370+13A>G |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630234] |
Chr14:74239944 [GRCh38] Chr14:74706647 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.371-18C>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003628913] |
Chr14:74241164 [GRCh38] Chr14:74707867 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.939T>G (p.Ala313=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629638] |
Chr14:74260772 [GRCh38] Chr14:74727475 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+12G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003876815] |
Chr14:74245300 [GRCh38] Chr14:74712003 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.370+20G>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629036] |
Chr14:74239951 [GRCh38] Chr14:74706654 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.579+13A>C |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003876816] |
Chr14:74245301 [GRCh38] Chr14:74712004 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.249G>T (p.Gly83=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629061] |
Chr14:74239810 [GRCh38] Chr14:74706513 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.636G>A (p.Arg212=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629074] |
Chr14:74259658 [GRCh38] Chr14:74726361 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.610A>C (p.Arg204=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003628997] |
Chr14:74259632 [GRCh38] Chr14:74726335 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.996G>C (p.Arg332=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630428] |
Chr14:74260829 [GRCh38] Chr14:74727532 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.371-13G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629936] |
Chr14:74241169 [GRCh38] Chr14:74707872 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.455+12G>T |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003629722] |
Chr14:74241278 [GRCh38] Chr14:74707981 [GRCh37] Chr14:14q24.3 |
likely benign |
NM_182894.3(VSX2):c.555G>T (p.Thr185=) |
single nucleotide variant |
Isolated microphthalmia 2 [RCV003630150] |
Chr14:74245264 [GRCh38] Chr14:74711967 [GRCh37] Chr14:14q24.3 |
likely benign |