NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007378]|not provided [RCV000254974] |
Chr16:89935235 [GRCh38] Chr16:90001643 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007379]|not provided [RCV000386199] |
Chr16:89935355 [GRCh38] Chr16:90001763 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007380] |
Chr16:89935700 [GRCh38] Chr16:90002108 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV004689411]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007381]|TUBB3-related tubulinopathy [RCV003982830]|not provided [RCV001851720] |
Chr16:89935700 [GRCh38] Chr16:90002108 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000194090]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000007382]|TUBB3-Releated Disorders [RCV001267650]|TUBB3-related disorder [RCV004547462]|not provided [RCV001539529] |
Chr16:89935679 [GRCh38] Chr16:90002087 [GRCh37] Chr16:16q24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 |
copy number gain |
See cases [RCV000050840] |
Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 |
copy number loss |
See cases [RCV000050374] |
Chr16:89830573..90044855 [GRCh38] Chr16:89896981..90111263 [GRCh37] Chr16:88424482..88638764 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 |
copy number gain |
See cases [RCV000052422] |
Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 |
copy number gain |
See cases [RCV000052421] |
Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1 |
copy number loss |
See cases [RCV000052022] |
Chr16:89730086..90081985 [GRCh38] Chr16:89796494..90148393 [GRCh37] Chr16:88323995..88675894 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1 |
copy number loss |
See cases [RCV000052023] |
Chr16:89791645..90000807 [GRCh38] Chr16:89858053..90067215 [GRCh37] Chr16:88385554..88594716 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 |
copy number gain |
See cases [RCV000052423] |
Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 |
copy number gain |
See cases [RCV000052424] |
Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] |
Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 |
copy number gain |
See cases [RCV000052428] |
Chr16:87853401..90081985 [GRCh38] Chr16:87887007..90148393 [GRCh37] Chr16:86444508..88675894 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3 |
copy number gain |
See cases [RCV000053937] |
Chr16:89665706..90081985 [GRCh38] Chr16:89732114..90148393 [GRCh37] Chr16:88259615..88675894 [NCBI36] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.716C>T (p.Ser239Phe) |
single nucleotide variant |
not provided [RCV000657952] |
Chr16:89935167 [GRCh38] Chr16:90001575 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.967A>G (p.Met323Val) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000023202]|not provided [RCV002513183] |
Chr16:89935418 [GRCh38] Chr16:90001826 [GRCh37] Chr16:16q24.3 |
pathogenic|uncertain significance |
TUBB3, THR178MET |
single nucleotide variant |
Cortical dysplasia, complex, with other brain malformations 1 [RCV000023203]|Cortical dysplasia, complex, with other brain malformations [RCV000023203] |
Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000023204]|not provided [RCV001092320] |
Chr16:89935064 [GRCh38] Chr16:90001472 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000023205] |
Chr16:89935356 [GRCh38] Chr16:90001764 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.277+8C>T |
single nucleotide variant |
not provided [RCV002055630]|not specified [RCV000147850] |
Chr16:89933586 [GRCh38] Chr16:89999994 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.702C>T (p.Ser234=) |
single nucleotide variant |
not provided [RCV001727587]|not specified [RCV000147855] |
Chr16:89935153 [GRCh38] Chr16:90001561 [GRCh37] Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006086.4(TUBB3):c.1215G>A (p.Glu405=) |
single nucleotide variant |
not provided [RCV000953364]|not specified [RCV000147847] |
Chr16:89935666 [GRCh38] Chr16:90002074 [GRCh37] Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006086.4(TUBB3):c.1170G>A (p.Arg390=) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000147846] |
Chr16:89935621 [GRCh38] Chr16:90002029 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu) |
single nucleotide variant |
not provided [RCV002515991]|not specified [RCV000147848] |
Chr16:89935782 [GRCh38] Chr16:90002190 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NM_006086.4(TUBB3):c.167-6C>T |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000147849]|TUBB3-related disorder [RCV004551286]|not provided [RCV002514849] |
Chr16:89933462 [GRCh38] Chr16:89999870 [GRCh37] Chr16:16q24.3 |
benign|likely benign|uncertain significance |
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000147851]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203608]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003457644]|TUBB3-related disorder [RCV004724928]|not provided [RCV000255388] |
Chr16:89934743 [GRCh38] Chr16:90001151 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_006086.4(TUBB3):c.58-22C>T |
single nucleotide variant |
not provided [RCV001610453]|not specified [RCV000147852] |
Chr16:89932549 [GRCh38] Chr16:89998957 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.58-49C>T |
single nucleotide variant |
not provided [RCV001640186]|not specified [RCV000147853] |
Chr16:89932522 [GRCh38] Chr16:89998930 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=) |
single nucleotide variant |
TUBB3-related disorder [RCV004551287]|not provided [RCV000900037]|not specified [RCV000147854] |
Chr16:89935117 [GRCh38] Chr16:90001525 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000147856]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000764099]|not provided [RCV001550956] |
Chr16:89935179 [GRCh38] Chr16:90001587 [GRCh37] Chr16:16q24.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.740A>G (p.Asn247Ser) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000147857] |
Chr16:89935191 [GRCh38] Chr16:90001599 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.993G>A (p.Leu331=) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000147858] |
Chr16:89935444 [GRCh38] Chr16:90001852 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 |
copy number gain |
See cases [RCV000135659] |
Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 |
copy number gain |
See cases [RCV000136898] |
Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 |
copy number gain |
See cases [RCV000137495] |
Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 |
copy number gain |
See cases [RCV000138161] |
Chr16:87848216..90096995 [GRCh38] Chr16:87881822..90163403 [GRCh37] Chr16:86439323..88690904 [NCBI36] Chr16:16q24.2-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 |
copy number gain |
See cases [RCV000137980] |
Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 |
copy number gain |
See cases [RCV000139426] |
Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 |
copy number gain |
See cases [RCV000139302] |
Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 |
copy number gain |
See cases [RCV000139658] |
Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 |
copy number gain |
See cases [RCV000141128] |
Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 |
copy number gain |
See cases [RCV000141700] |
Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 |
copy number gain |
See cases [RCV000142578] |
Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 |
copy number gain |
See cases [RCV000142698] |
Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
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 16q24.3(chr16:89830573-90044855)x1 |
copy number loss |
See cases [RCV000148110] |
Chr16:89830573..90044855 [GRCh38] Chr16:89896981..90111263 [GRCh37] Chr16:88424482..88638764 [NCBI36] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1172G>T (p.Arg391Leu) |
single nucleotide variant |
not provided [RCV000254819] |
Chr16:89935623 [GRCh38] Chr16:90002031 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.921C>T (p.His307=) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001335375]|TUBB3-related disorder [RCV004553005]|not provided [RCV000724458]|not specified [RCV001818437] |
Chr16:89935372 [GRCh38] Chr16:90001780 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=) |
single nucleotide variant |
not provided [RCV000891842]|not specified [RCV000194746] |
Chr16:89935738 [GRCh38] Chr16:90002146 [GRCh37] Chr16:16q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1 |
copy number loss |
See cases [RCV000240112] |
Chr16:89836157..90127980 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.190A>G (p.Ile64Val) |
single nucleotide variant |
not specified [RCV000192764] |
Chr16:89933491 [GRCh38] Chr16:89999899 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.946G>A (p.Val316Met) |
single nucleotide variant |
not provided [RCV002304204]|not specified [RCV000193882] |
Chr16:89935397 [GRCh38] Chr16:90001805 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 |
copy number gain |
See cases [RCV000240108] |
Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3 |
pathogenic |
t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1200C>T (p.Gly400=) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000258316]|not provided [RCV002518793] |
Chr16:89935651 [GRCh38] Chr16:90002059 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NM_006086.4(TUBB3):c.1288G>C (p.Ala430Pro) |
single nucleotide variant |
Malignant tumor of prostate [RCV000206304] |
Chr16:89935739 [GRCh38] Chr16:90002147 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203606]|TUBB3-related disorder [RCV004554750]|TUBB3-related tubulinopathy [RCV003982950]|not provided [RCV000301357] |
Chr16:89933512 [GRCh38] Chr16:89999920 [GRCh37] Chr16:16q24.3 |
pathogenic|not provided |
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203607]|TUBB3-related disorder [RCV004553109]|TUBB3-related tubulinopathy [RCV001270742]|not provided [RCV000519071] |
Chr16:89935236 [GRCh38] Chr16:90001644 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic |
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203610] |
Chr16:89933486 [GRCh38] Chr16:89999894 [GRCh37] Chr16:16q24.3 |
pathogenic|uncertain significance|not provided |
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001804943]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000203611]|Inborn genetic diseases [RCV001267589]|not provided [RCV000255747] |
Chr16:89935589 [GRCh38] Chr16:90001997 [GRCh37] Chr16:16q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207182] |
Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3 |
uncertain significance |
c.1228G>A |
variation |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000210368] |
Chr16:16q24.3 |
pathogenic |
Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000225239]|not provided [RCV001782715] |
Chr16:89935613 [GRCh38] Chr16:90002021 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic |
GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3 |
copy number gain |
See cases [RCV000240330] |
Chr16:89696893..90103214 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000023203]|Inborn genetic diseases [RCV000624084]|not provided [RCV000254864] |
Chr16:89934984 [GRCh38] Chr16:90001392 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.1169G>C (p.Arg390Pro) |
single nucleotide variant |
not provided [RCV000315449] |
Chr16:89935620 [GRCh38] Chr16:90002028 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001526950]|not provided [RCV000386583] |
Chr16:89935140 [GRCh38] Chr16:90001548 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic |
NM_006086.4(TUBB3):c.357G>A (p.Val119=) |
single nucleotide variant |
TUBB3-related disorder [RCV004547670]|not provided [RCV000725127] |
Chr16:89934808 [GRCh38] Chr16:90001216 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.507C>T (p.Val169=) |
single nucleotide variant |
TUBB3-related disorder [RCV004549618]|not provided [RCV000331671] |
Chr16:89934958 [GRCh38] Chr16:90001366 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.606C>T (p.Ile202=) |
single nucleotide variant |
TUBB3-related disorder [RCV004547664]|not provided [RCV000725014]|not specified [RCV000370232] |
Chr16:89935057 [GRCh38] Chr16:90001465 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.834C>G (p.Ser278Arg) |
single nucleotide variant |
not provided [RCV000489711] |
Chr16:89935285 [GRCh38] Chr16:90001693 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.278-175C>G |
single nucleotide variant |
not provided [RCV001566419] |
Chr16:89934554 [GRCh38] Chr16:90000962 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.557C>T (p.Thr186Met) |
single nucleotide variant |
not provided [RCV003224006] |
Chr16:89935008 [GRCh38] Chr16:90001416 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.200A>T (p.Asp67Val) |
single nucleotide variant |
not provided [RCV003314781] |
Chr16:89933501 [GRCh38] Chr16:89999909 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.166+12C>T |
single nucleotide variant |
not provided [RCV002529482]|not specified [RCV000606763] |
Chr16:89932691 [GRCh38] Chr16:89999099 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.1156A>T (p.Thr386Ser) |
single nucleotide variant |
not provided [RCV001092321] |
Chr16:89935607 [GRCh38] Chr16:90002015 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000415062]|not provided [RCV002524671] |
Chr16:89935433 [GRCh38] Chr16:90001841 [GRCh37] Chr16:16q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001843359]|TUBB3-related disorder [RCV001788210]|not provided [RCV000412886] |
Chr16:89935214 [GRCh38] Chr16:90001622 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|not provided |
NM_006086.4(TUBB3):c.614A>C (p.Glu205Ala) |
single nucleotide variant |
not provided [RCV000413256] |
Chr16:89935065 [GRCh38] Chr16:90001473 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.71T>C (p.Ile24Thr) |
single nucleotide variant |
not provided [RCV000729110] |
Chr16:89932584 [GRCh38] Chr16:89998992 [GRCh37] Chr16:16q24.3 |
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 |
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) |
single nucleotide variant |
Abnormal cerebral morphology [RCV002275022]|Complex cortical dysplasia with other brain malformations 1 [RCV000824822]|not provided [RCV000422965] |
Chr16:89935313 [GRCh38] Chr16:90001721 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic |
NM_006086.4(TUBB3):c.1113C>T (p.Ser371=) |
single nucleotide variant |
not specified [RCV000442957] |
Chr16:89935564 [GRCh38] Chr16:90001972 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.741C>T (p.Asn247=) |
single nucleotide variant |
not provided [RCV002062720]|not specified [RCV000429003] |
Chr16:89935192 [GRCh38] Chr16:90001600 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.109G>A (p.Val37Met) |
single nucleotide variant |
not provided [RCV000432537] |
Chr16:89932622 [GRCh38] Chr16:89999030 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.167-5C>G |
single nucleotide variant |
TUBB3-related disorder [RCV004551500]|not provided [RCV000887231]|not specified [RCV000443702] |
Chr16:89933463 [GRCh38] Chr16:89999871 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.1317C>T (p.Asp439=) |
single nucleotide variant |
not provided [RCV000974543]|not specified [RCV000440247] |
Chr16:89935768 [GRCh38] Chr16:90002176 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.855C>T (p.Thr285=) |
single nucleotide variant |
TUBB3-related disorder [RCV004551497]|not provided [RCV000919203] |
Chr16:89935306 [GRCh38] Chr16:90001714 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3 |
copy number gain |
See cases [RCV000448757] |
Chr16:89880964..90133246 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.766A>T (p.Asn256Tyr) |
single nucleotide variant |
not provided [RCV000479424] |
Chr16:89935217 [GRCh38] Chr16:90001625 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1081C>A (p.Leu361Ile) |
single nucleotide variant |
not provided [RCV000486752] |
Chr16:89935532 [GRCh38] Chr16:90001940 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.845G>C (p.Arg282Pro) |
single nucleotide variant |
not provided [RCV000480489] |
Chr16:89935296 [GRCh38] Chr16:90001704 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1195A>T (p.Thr399Ser) |
single nucleotide variant |
not specified [RCV000503348] |
Chr16:89935646 [GRCh38] Chr16:90002054 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=) |
single nucleotide variant |
not provided [RCV002524323]|not specified [RCV000503382] |
Chr16:89935657 [GRCh38] Chr16:90002065 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NM_006086.4(TUBB3):c.435C>T (p.Ser145=) |
single nucleotide variant |
TUBB3-related disorder [RCV004551637]|not provided [RCV000905556]|not specified [RCV000499837] |
Chr16:89934886 [GRCh38] Chr16:90001294 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.1023C>T (p.Phe341=) |
single nucleotide variant |
not specified [RCV000501947] |
Chr16:89935474 [GRCh38] Chr16:90001882 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.856G>A (p.Val286Met) |
single nucleotide variant |
not specified [RCV000500275] |
Chr16:89935307 [GRCh38] Chr16:90001715 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.536T>C (p.Val179Ala) |
single nucleotide variant |
not specified [RCV000500305] |
Chr16:89934987 [GRCh38] Chr16:90001395 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1209G>C (p.Met403Ile) |
single nucleotide variant |
not provided [RCV000493628] |
Chr16:89935660 [GRCh38] Chr16:90002068 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1139G>A (p.Arg380His) |
single nucleotide variant |
not provided [RCV000493675] |
Chr16:89935590 [GRCh38] Chr16:90001998 [GRCh37] Chr16:16q24.3 |
pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.1165T>G (p.Phe389Val) |
single nucleotide variant |
not provided [RCV000493707] |
Chr16:89935616 [GRCh38] Chr16:90002024 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV002056825]|Congenital fibrosis of extraocular muscles [RCV002264946]|not provided [RCV000493980] |
Chr16:89934875 [GRCh38] Chr16:90001283 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|not provided |
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 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
NM_006086.4(TUBB3):c.447G>A (p.Thr149=) |
single nucleotide variant |
TUBB3-related disorder [RCV004547755]|not provided [RCV000913451]|not specified [RCV000612358] |
Chr16:89934898 [GRCh38] Chr16:90001306 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.278-7T>G |
single nucleotide variant |
not provided [RCV002528721]|not specified [RCV000615760] |
Chr16:89934722 [GRCh38] Chr16:90001130 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.882C>T (p.Phe294=) |
single nucleotide variant |
not provided [RCV002531665]|not specified [RCV000600386] |
Chr16:89935333 [GRCh38] Chr16:90001741 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.58-19del |
deletion |
not provided [RCV003767544]|not specified [RCV000608131] |
Chr16:89932552 [GRCh38] Chr16:89998960 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.523G>C (p.Val175Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000623368] |
Chr16:89934974 [GRCh38] Chr16:90001382 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.90C>T (p.Ile30=) |
single nucleotide variant |
not provided [RCV000882270] |
Chr16:89932603 [GRCh38] Chr16:89999011 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV000656083]|Developmental disorder [RCV003126774]|Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV001824143]|not provided [RCV002461261] |
Chr16:89932649 [GRCh38] Chr16:89999057 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_006086.4(TUBB3):c.1197G>A (p.Thr399=) |
single nucleotide variant |
not provided [RCV001704755] |
Chr16:89935648 [GRCh38] Chr16:90002056 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity |
NM_006086.4(TUBB3):c.210C>T (p.Pro70=) |
single nucleotide variant |
not provided [RCV000996420]|not specified [RCV000605354] |
Chr16:89933511 [GRCh38] Chr16:89999919 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 |
copy number gain |
See cases [RCV000512440] |
Chr16:85838574..90155062 [GRCh37] Chr16:16q24.1-24.3 |
pathogenic |
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 |
copy number gain |
See cases [RCV000512468] |
Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
NM_006086.4(TUBB3):c.1307T>C (p.Met436Thr) |
single nucleotide variant |
not provided [RCV000658065] |
Chr16:89935758 [GRCh38] Chr16:90002166 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3 |
copy number gain |
not provided [RCV000683861] |
Chr16:89828398..90155062 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 |
copy number gain |
not provided [RCV000683845] |
Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 |
copy number gain |
not provided [RCV000683831] |
Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3 |
pathogenic |
NM_006086.4(TUBB3):c.752G>A (p.Arg251His) |
single nucleotide variant |
not provided [RCV001573752] |
Chr16:89935203 [GRCh38] Chr16:90001611 [GRCh37] Chr16:16q24.3 |
uncertain significance |
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 |
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 |
NM_006086.4(TUBB3):c.*213C>T |
single nucleotide variant |
not provided [RCV001612387] |
Chr16:89936017 [GRCh38] Chr16:90002425 [GRCh37] Chr16:16q24.3 |
benign |
NM_001197181.2(TUBB3):c.-160+799G>A |
single nucleotide variant |
not provided [RCV001667716] |
Chr16:89923044 [GRCh38] Chr16:89989452 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.1291G>T (p.Glu431Ter) |
single nucleotide variant |
not provided [RCV003239254] |
Chr16:89935742 [GRCh38] Chr16:90002150 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1024G>A (p.Val342Met) |
single nucleotide variant |
Spastic ataxia [RCV001647245] |
Chr16:89935475 [GRCh38] Chr16:90001883 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV000754774] |
Chr16:89935082 [GRCh38] Chr16:90001490 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89970520-90027489)x1 |
copy number loss |
not provided [RCV000751840] |
Chr16:89970520..90027489 [GRCh37] Chr16:16q24.3 |
benign |
GRCh37/hg19 16q24.3(chr16:89979494-90015976)x3 |
copy number gain |
not provided [RCV000751843] |
Chr16:89979494..90015976 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.1336G>A (p.Ala446Thr) |
single nucleotide variant |
not provided [RCV000903349] |
Chr16:89935787 [GRCh38] Chr16:90002195 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.1257G>T (p.Val419=) |
single nucleotide variant |
not provided [RCV000904419] |
Chr16:89935708 [GRCh38] Chr16:90002116 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.972G>A (p.Lys324=) |
single nucleotide variant |
not provided [RCV000898909] |
Chr16:89935423 [GRCh38] Chr16:90001831 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.993G>C (p.Leu331=) |
single nucleotide variant |
not provided [RCV000926097] |
Chr16:89935444 [GRCh38] Chr16:90001852 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1158G>A (p.Thr386=) |
single nucleotide variant |
not provided [RCV000916792] |
Chr16:89935609 [GRCh38] Chr16:90002017 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1233C>T (p.Ala411=) |
single nucleotide variant |
not provided [RCV000979156] |
Chr16:89935684 [GRCh38] Chr16:90002092 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.903C>T (p.Ala301=) |
single nucleotide variant |
not provided [RCV000908593] |
Chr16:89935354 [GRCh38] Chr16:90001762 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.99C>T (p.Ser33=) |
single nucleotide variant |
not provided [RCV000909519] |
Chr16:89932612 [GRCh38] Chr16:89999020 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1260C>T (p.Ser420=) |
single nucleotide variant |
not provided [RCV000917144] |
Chr16:89935711 [GRCh38] Chr16:90002119 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) |
copy number gain |
not provided [RCV000767619] |
Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
NM_006086.4(TUBB3):c.-30G>T |
single nucleotide variant |
not provided [RCV000827499] |
Chr16:89923372 [GRCh38] Chr16:89989780 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.278-212T>C |
single nucleotide variant |
not provided [RCV000829404] |
Chr16:89934517 [GRCh38] Chr16:90000925 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.58-185G>A |
single nucleotide variant |
not provided [RCV000829401] |
Chr16:89932386 [GRCh38] Chr16:89932386..89932387 [GRCh38] Chr16:89998794 [GRCh37] Chr16:89998794..89998795 [GRCh37] Chr16:16q24.3 |
benign |
GRCh37/hg19 16q24.3(chr16:89991078-90155062)x3 |
copy number gain |
not provided [RCV000847889] |
Chr16:89991078..90155062 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.277+58C>T |
single nucleotide variant |
not provided [RCV000833280] |
Chr16:89933636 [GRCh38] Chr16:90000044 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.1312G>C (p.Glu438Gln) |
single nucleotide variant |
not provided [RCV000798971] |
Chr16:89935763 [GRCh38] Chr16:90002171 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.228C>T (p.Val76=) |
single nucleotide variant |
not provided [RCV000919258] |
Chr16:89933529 [GRCh38] Chr16:89999937 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.1057G>A (p.Val353Met) |
single nucleotide variant |
not provided [RCV000996421] |
Chr16:89935508 [GRCh38] Chr16:90001916 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_001197181.2(TUBB3):c.-160+1028C>T |
single nucleotide variant |
not provided [RCV001548568] |
Chr16:89923273 [GRCh38] Chr16:89989681 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.189C>T (p.Ala63=) |
single nucleotide variant |
not provided [RCV001638586] |
Chr16:89933490 [GRCh38] Chr16:89999898 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.277+198C>T |
single nucleotide variant |
not provided [RCV001652775] |
Chr16:89933776 [GRCh38] Chr16:90000184 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.1070C>T (p.Pro357Leu) |
single nucleotide variant |
not provided [RCV001554947] |
Chr16:89935521 [GRCh38] Chr16:90001929 [GRCh37] Chr16:16q24.3 |
pathogenic|conflicting interpretations of pathogenicity |
NM_006086.4(TUBB3):c.205G>A (p.Glu69Lys) |
single nucleotide variant |
not provided [RCV002284680] |
Chr16:89933506 [GRCh38] Chr16:89999914 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.278-97G>C |
single nucleotide variant |
not provided [RCV001615885] |
Chr16:89934632 [GRCh38] Chr16:90001040 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.805G>A (p.Gly269Ser) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV004762161]|not provided [RCV001563193] |
Chr16:89935256 [GRCh38] Chr16:90001664 [GRCh37] Chr16:16q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.1056C>T (p.Ala352=) |
single nucleotide variant |
not provided [RCV000925370] |
Chr16:89935507 [GRCh38] Chr16:90001915 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.381C>T (p.Cys127=) |
single nucleotide variant |
not provided [RCV000931203] |
Chr16:89934832 [GRCh38] Chr16:90001240 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.657G>A (p.Thr219=) |
single nucleotide variant |
not provided [RCV000916700] |
Chr16:89935108 [GRCh38] Chr16:90001516 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.783G>C (p.Pro261=) |
single nucleotide variant |
not provided [RCV000929348] |
Chr16:89935234 [GRCh38] Chr16:90001642 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.221A>G (p.Asp74Gly) |
single nucleotide variant |
not provided [RCV001092319] |
Chr16:89933522 [GRCh38] Chr16:89999930 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.166+4A>C |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003233249] |
Chr16:89932683 [GRCh38] Chr16:89999091 [GRCh37] Chr16:16q24.3 |
not provided |
NM_006086.4(TUBB3):c.638G>A (p.Arg213His) |
single nucleotide variant |
not provided [RCV003235869] |
Chr16:89935089 [GRCh38] Chr16:90001497 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.33G>C (p.Gln11His) |
single nucleotide variant |
X-linked hydrocephalus syndrome [RCV001723250] |
Chr16:89923434 [GRCh38] Chr16:89989842 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.728C>G (p.Pro243Arg) |
single nucleotide variant |
not provided [RCV001594139] |
Chr16:89935179 [GRCh38] Chr16:90001587 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.936G>A (p.Thr312=) |
single nucleotide variant |
not provided [RCV001598584] |
Chr16:89935387 [GRCh38] Chr16:90001795 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.58-21C>G |
single nucleotide variant |
not provided [RCV001611550] |
Chr16:89932550 [GRCh38] Chr16:89998958 [GRCh37] Chr16:16q24.3 |
benign |
NM_001197181.2(TUBB3):c.-160+868T>A |
single nucleotide variant |
not provided [RCV001587739] |
Chr16:89923113 [GRCh38] Chr16:89989521 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1091C>T (p.Ser364Phe) |
single nucleotide variant |
not provided [RCV001584576] |
Chr16:89935542 [GRCh38] Chr16:90001950 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.58-235C>G |
single nucleotide variant |
not provided [RCV001649957] |
Chr16:89932336 [GRCh38] Chr16:89998744 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.225T>C (p.Ser75=) |
single nucleotide variant |
not provided [RCV001647945] |
Chr16:89933526 [GRCh38] Chr16:89999934 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.*78T>C |
single nucleotide variant |
not provided [RCV001671633] |
Chr16:89935882 [GRCh38] Chr16:90002290 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.58-331T>G |
single nucleotide variant |
not provided [RCV001694620] |
Chr16:89932240 [GRCh38] Chr16:89998648 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.46A>T (p.Ile16Phe) |
single nucleotide variant |
not provided [RCV001575554] |
Chr16:89923447 [GRCh38] Chr16:89989855 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.167-21C>G |
single nucleotide variant |
not provided [RCV001567168]|not specified [RCV001699587] |
Chr16:89933447 [GRCh38] Chr16:89999855 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_006086.4(TUBB3):c.58-20dup |
duplication |
not provided [RCV001530652] |
Chr16:89932544..89932545 [GRCh38] Chr16:89998952..89998953 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001198782] |
Chr16:89935314 [GRCh38] Chr16:90001722 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 |
copy number gain |
not provided [RCV001249359] |
Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3 |
not provided |
NM_006086.4(TUBB3):c.577G>A (p.Val193Met) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001252385] |
Chr16:89935028 [GRCh38] Chr16:90001436 [GRCh37] Chr16:16q24.3 |
pathogenic |
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 |
copy number gain |
not provided [RCV001259286] |
Chr16:89499489..90125146 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 |
copy number gain |
not provided [RCV001258663] |
Chr16:88222732..90155062 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 |
copy number gain |
not provided [RCV001258667] |
Chr16:89156662..90023446 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1071G>A (p.Pro357=) |
single nucleotide variant |
not provided [RCV001572488] |
Chr16:89935522 [GRCh38] Chr16:90001930 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.730G>T (p.Gly244Cys) |
single nucleotide variant |
TUBB3-related tubulinopathy [RCV001270741]|not provided [RCV001760316] |
Chr16:89935181 [GRCh38] Chr16:90001589 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.446C>T (p.Thr149Met) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001332737]|not provided [RCV001760431] |
Chr16:89934897 [GRCh38] Chr16:90001305 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1318G>C (p.Asp440His) |
single nucleotide variant |
not provided [RCV001342419] |
Chr16:89935769 [GRCh38] Chr16:90002177 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1163T>C (p.Met388Thr) |
single nucleotide variant |
Lissencephaly [RCV001291309] |
Chr16:89935614 [GRCh38] Chr16:90002022 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.836A>G (p.Gln279Arg) |
single nucleotide variant |
not provided [RCV001296111] |
Chr16:89935287 [GRCh38] Chr16:90001695 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.436G>A (p.Gly146Ser) |
single nucleotide variant |
not provided [RCV001509542] |
Chr16:89934887 [GRCh38] Chr16:90001295 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.*148G>A |
single nucleotide variant |
not provided [RCV001608984] |
Chr16:89935952 [GRCh38] Chr16:89935952..89935953 [GRCh38] Chr16:90002360 [GRCh37] Chr16:90002360..90002361 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.278-242C>T |
single nucleotide variant |
not provided [RCV001612167] |
Chr16:89934487 [GRCh38] Chr16:90000895 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.813C>T (p.Ala271=) |
single nucleotide variant |
not provided [RCV001755237] |
Chr16:89935264 [GRCh38] Chr16:90001672 [GRCh37] Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_006086.4(TUBB3):c.330G>A (p.Ala110=) |
single nucleotide variant |
TUBB3-related disorder [RCV004551995]|not provided [RCV001762828] |
Chr16:89934781 [GRCh38] Chr16:90001189 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NC_000016.9:g.(?_87636753)_(90109753_?)dup |
duplication |
Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] |
Chr16:87636753..90109753 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.952C>T (p.Arg318Trp) |
single nucleotide variant |
not provided [RCV001763485] |
Chr16:89935403 [GRCh38] Chr16:90001811 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.178G>T (p.Val60Leu) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001775244] |
Chr16:89933479 [GRCh38] Chr16:89999887 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1261G>A (p.Glu421Lys) |
single nucleotide variant |
not provided [RCV001772811] |
Chr16:89935712 [GRCh38] Chr16:90002120 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.386G>A (p.Cys129Tyr) |
single nucleotide variant |
not provided [RCV001765377] |
Chr16:89934837 [GRCh38] Chr16:90001245 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003128274]|not provided [RCV001786720] |
Chr16:89935376 [GRCh38] Chr16:90001784 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.1267C>T (p.Gln423Ter) |
single nucleotide variant |
not provided [RCV001774403]|not specified [RCV003317525] |
Chr16:89935718 [GRCh38] Chr16:90002126 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.963G>A (p.Met321Ile) |
single nucleotide variant |
not provided [RCV001751946] |
Chr16:89935414 [GRCh38] Chr16:90001822 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1139G>C (p.Arg380Pro) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV001775403] |
Chr16:89935590 [GRCh38] Chr16:90001998 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.9G>C (p.Glu3Asp) |
single nucleotide variant |
not provided [RCV001752651] |
Chr16:89923410 [GRCh38] Chr16:89989818 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.515C>T (p.Ser172Leu) |
single nucleotide variant |
not provided [RCV001765563] |
Chr16:89934966 [GRCh38] Chr16:90001374 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.318C>G (p.Tyr106Ter) |
single nucleotide variant |
not provided [RCV001760660] |
Chr16:89934769 [GRCh38] Chr16:90001177 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1147G>A (p.Glu383Lys) |
single nucleotide variant |
not provided [RCV001771495] |
Chr16:89935598 [GRCh38] Chr16:90002006 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.677A>G (p.Asn226Ser) |
single nucleotide variant |
not provided [RCV001816184] |
Chr16:89935128 [GRCh38] Chr16:90001536 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 |
copy number gain |
not provided [RCV001795551] |
Chr16:80386595..90163348 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
NM_006086.4(TUBB3):c.1337C>T (p.Ala446Val) |
single nucleotide variant |
not provided [RCV001758151] |
Chr16:89935788 [GRCh38] Chr16:90002196 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.935C>T (p.Thr312Met) |
single nucleotide variant |
Arrhythmogenic right ventricular dysplasia 8 [RCV001849564]|Complex cortical dysplasia with other brain malformations 1 [RCV004555883]|not provided [RCV001757952] |
Chr16:89935386 [GRCh38] Chr16:90001794 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance|not provided |
NM_006086.4(TUBB3):c.534G>A (p.Thr178=) |
single nucleotide variant |
TUBB3-related disorder [RCV004552041]|not provided [RCV003728023]|not specified [RCV001819511] |
Chr16:89934985 [GRCh38] Chr16:90001393 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.212G>C (p.Gly71Ala) |
single nucleotide variant |
not provided [RCV001817699] |
Chr16:89933513 [GRCh38] Chr16:89999921 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 |
copy number gain |
not provided [RCV001829158] |
Chr16:88000389..90155062 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.137G>A (p.Arg46Gln) |
single nucleotide variant |
not provided [RCV001843614] |
Chr16:89932650 [GRCh38] Chr16:89999058 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.845G>A (p.Arg282Gln) |
single nucleotide variant |
not provided [RCV001837670] |
Chr16:89935296 [GRCh38] Chr16:90001704 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.508G>A (p.Val170Met) |
single nucleotide variant |
Congenital fibrosis of extraocular muscles type 1 [RCV001844430] |
Chr16:89934959 [GRCh38] Chr16:90001367 [GRCh37] Chr16:16q24.3 |
not provided |
NM_006086.4(TUBB3):c.198G>A (p.Val66=) |
single nucleotide variant |
not provided [RCV001927343] |
Chr16:89933499 [GRCh38] Chr16:89999907 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3 |
copy number gain |
not provided [RCV001827759] |
Chr16:89337891..90155062 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1239C>G (p.Ser413Arg) |
single nucleotide variant |
not provided [RCV001886817] |
Chr16:89935690 [GRCh38] Chr16:90002098 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.815C>A (p.Pro272His) |
single nucleotide variant |
not provided [RCV002027010] |
Chr16:89935266 [GRCh38] Chr16:90001674 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.860C>T (p.Pro287Leu) |
single nucleotide variant |
not provided [RCV001898600] |
Chr16:89935311 [GRCh38] Chr16:90001719 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1116G>A (p.Thr372=) |
single nucleotide variant |
TUBB3-related disorder [RCV004738528]|not provided [RCV002091157] |
Chr16:89935567 [GRCh38] Chr16:90001975 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.717C>G (p.Ser239=) |
single nucleotide variant |
not provided [RCV002095978] |
Chr16:89935168 [GRCh38] Chr16:90001576 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.759G>A (p.Leu253=) |
single nucleotide variant |
not provided [RCV002193560] |
Chr16:89935210 [GRCh38] Chr16:90001618 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.762C>T (p.Ala254=) |
single nucleotide variant |
not provided [RCV002137807] |
Chr16:89935213 [GRCh38] Chr16:90001621 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1332G>A (p.Ser444=) |
single nucleotide variant |
not provided [RCV002098859] |
Chr16:89935783 [GRCh38] Chr16:90002191 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1077C>T (p.Arg359=) |
single nucleotide variant |
not provided [RCV002136019] |
Chr16:89935528 [GRCh38] Chr16:90001936 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NM_006086.4(TUBB3):c.861C>T (p.Pro287=) |
single nucleotide variant |
not provided [RCV002101536] |
Chr16:89935312 [GRCh38] Chr16:90001720 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.975G>A (p.Glu325=) |
single nucleotide variant |
not provided [RCV002154437] |
Chr16:89935426 [GRCh38] Chr16:90001834 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.929A>G (p.Tyr310Cys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV002226820] |
Chr16:89935380 [GRCh38] Chr16:90001788 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NC_000016.9:g.(?_89611036)_(90106937_?)dup |
duplication |
Fanconi anemia [RCV003119385] |
Chr16:89611036..90106937 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.467G>A (p.Arg156His) |
single nucleotide variant |
not provided [RCV004593212]|not specified [RCV003123455] |
Chr16:89934918 [GRCh38] Chr16:90001326 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.377A>C (p.Asn126Thr) |
single nucleotide variant |
not provided [RCV003129251] |
Chr16:89934828 [GRCh38] Chr16:90001236 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.644T>A (p.Leu215His) |
single nucleotide variant |
See cases [RCV002253110] |
Chr16:89935095 [GRCh38] Chr16:90001503 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.970A>C (p.Lys324Gln) |
single nucleotide variant |
not provided [RCV003149383] |
Chr16:89935421 [GRCh38] Chr16:90001829 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.328G>A (p.Ala110Thr) |
single nucleotide variant |
not provided [RCV003129335] |
Chr16:89934779 [GRCh38] Chr16:90001187 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.535G>C (p.Val179Leu) |
single nucleotide variant |
Abnormal cerebral morphology [RCV002275459] |
Chr16:89934986 [GRCh38] Chr16:90001394 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1271A>C (p.Gln424Pro) |
single nucleotide variant |
not provided [RCV002288170] |
Chr16:89935722 [GRCh38] Chr16:90002130 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.572_574del (p.Gln191del) |
deletion |
Complex cortical dysplasia with other brain malformations 1 [RCV002265527] |
Chr16:89935022..89935024 [GRCh38] Chr16:90001430..90001432 [GRCh37] Chr16:16q24.3 |
not provided |
NM_006086.4(TUBB3):c.817C>G (p.Leu273Val) |
single nucleotide variant |
See cases [RCV002287664] |
Chr16:89935268 [GRCh38] Chr16:90001676 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 |
copy number gain |
Syndromic anorectal malformation [RCV002286607] |
Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.683T>C (p.Leu228Pro) |
single nucleotide variant |
not provided [RCV002288005] |
Chr16:89935134 [GRCh38] Chr16:90001542 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.166+6T>C |
single nucleotide variant |
not provided [RCV002288189] |
Chr16:89932685 [GRCh38] Chr16:89999093 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.320C>T (p.Thr107Met) |
single nucleotide variant |
not provided [RCV002261560] |
Chr16:89934771 [GRCh38] Chr16:90001179 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.484C>T (p.Arg162Cys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV002291108] |
Chr16:89934935 [GRCh38] Chr16:90001343 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.313C>A (p.His105Asn) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV002291127] |
Chr16:89934764 [GRCh38] Chr16:90001172 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.271A>G (p.Ile91Val) |
single nucleotide variant |
not provided [RCV002291444] |
Chr16:89933572 [GRCh38] Chr16:89999980 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.578T>C (p.Val193Ala) |
single nucleotide variant |
not provided [RCV002265075] |
Chr16:89935029 [GRCh38] Chr16:90001437 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.895A>G (p.Met299Val) |
single nucleotide variant |
not provided [RCV003156680] |
Chr16:89935346 [GRCh38] Chr16:90001754 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1172G>A (p.Arg391His) |
single nucleotide variant |
not provided [RCV002469528] |
Chr16:89935623 [GRCh38] Chr16:90002031 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.492G>T (p.Met164Ile) |
single nucleotide variant |
not provided [RCV002474231] |
Chr16:89934943 [GRCh38] Chr16:90001351 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1343G>A (p.Gly448Asp) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003140401]|TUBB3-related disorder [RCV004554041] |
Chr16:89935794 [GRCh38] Chr16:90002202 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.926G>A (p.Arg309His) |
single nucleotide variant |
not provided [RCV002304497] |
Chr16:89935377 [GRCh38] Chr16:90001785 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter) |
single nucleotide variant |
Martsolf syndrome 1 [RCV002305666] |
Chr16:89935482 [GRCh38] Chr16:90001890 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1001A>G (p.Gln334Arg) |
single nucleotide variant |
not provided [RCV002301853] |
Chr16:89935452 [GRCh38] Chr16:90001860 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NM_006086.4(TUBB3):c.1013G>A (p.Ser338Asn) |
single nucleotide variant |
not provided [RCV002462708] |
Chr16:89935464 [GRCh38] Chr16:90001872 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1329G>A (p.Glu443=) |
single nucleotide variant |
not provided [RCV002690117] |
Chr16:89935780 [GRCh38] Chr16:90002188 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.189C>G (p.Ala63=) |
single nucleotide variant |
not provided [RCV002613756] |
Chr16:89933490 [GRCh38] Chr16:89999898 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.833G>A (p.Ser278Asn) |
single nucleotide variant |
not provided [RCV002839077] |
Chr16:89935284 [GRCh38] Chr16:90001692 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.58-17T>C |
single nucleotide variant |
not provided [RCV002842176] |
Chr16:89932554 [GRCh38] Chr16:89998962 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1080C>T (p.Gly360=) |
single nucleotide variant |
not provided [RCV002903982] |
Chr16:89935531 [GRCh38] Chr16:90001939 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.897G>T (p.Met299Ile) |
single nucleotide variant |
not provided [RCV002839330] |
Chr16:89935348 [GRCh38] Chr16:90001756 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.418G>T (p.Gly140Trp) |
single nucleotide variant |
not provided [RCV002462566] |
Chr16:89934869 [GRCh38] Chr16:90001277 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1146C>T (p.Ser382=) |
single nucleotide variant |
not provided [RCV002819329] |
Chr16:89935597 [GRCh38] Chr16:90002005 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003322637]|not provided [RCV003038132] |
Chr16:89923406 [GRCh38] Chr16:89989814 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.895A>T (p.Met299Leu) |
single nucleotide variant |
not provided [RCV003002497] |
Chr16:89935346 [GRCh38] Chr16:90001754 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.756G>C (p.Lys252Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002761898] |
Chr16:89935207 [GRCh38] Chr16:90001615 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.58-19T>C |
single nucleotide variant |
not provided [RCV002621592] |
Chr16:89932552 [GRCh38] Chr16:89998960 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.680A>G (p.His227Arg) |
single nucleotide variant |
not provided [RCV003021085] |
Chr16:89935131 [GRCh38] Chr16:90001539 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.277+6T>C |
single nucleotide variant |
not provided [RCV002639065] |
Chr16:89933584 [GRCh38] Chr16:89999992 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.609C>T (p.Asp203=) |
single nucleotide variant |
not provided [RCV002957166] |
Chr16:89935060 [GRCh38] Chr16:90001468 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.916C>T (p.Arg306Cys) |
single nucleotide variant |
not provided [RCV002700711] |
Chr16:89935367 [GRCh38] Chr16:90001775 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.783G>A (p.Pro261=) |
single nucleotide variant |
not provided [RCV002596650] |
Chr16:89935234 [GRCh38] Chr16:90001642 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.414G>A (p.Ser138=) |
single nucleotide variant |
not provided [RCV002596674] |
Chr16:89934865 [GRCh38] Chr16:90001273 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1286C>T (p.Thr429Met) |
single nucleotide variant |
not provided [RCV003043656] |
Chr16:89935737 [GRCh38] Chr16:90002145 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.854C>T (p.Thr285Ile) |
single nucleotide variant |
not provided [RCV003059863] |
Chr16:89935305 [GRCh38] Chr16:90001713 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.57+17C>T |
single nucleotide variant |
not provided [RCV002572605] |
Chr16:89923475 [GRCh38] Chr16:89989883 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.804C>T (p.Pro268=) |
single nucleotide variant |
not provided [RCV003083268] |
Chr16:89935255 [GRCh38] Chr16:90001663 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.826C>T (p.Arg276Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003059908]|not provided [RCV003059907] |
Chr16:89935277 [GRCh38] Chr16:90001685 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.915G>A (p.Pro305=) |
single nucleotide variant |
not provided [RCV002625476] |
Chr16:89935366 [GRCh38] Chr16:90001774 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.505G>A (p.Val169Ile) |
single nucleotide variant |
not provided [RCV003023078] |
Chr16:89934956 [GRCh38] Chr16:90001364 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.107A>G (p.Tyr36Cys) |
single nucleotide variant |
not provided [RCV003006335] |
Chr16:89932620 [GRCh38] Chr16:89999028 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.922G>A (p.Gly308Ser) |
single nucleotide variant |
not provided [RCV003025682] |
Chr16:89935373 [GRCh38] Chr16:90001781 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys) |
single nucleotide variant |
not provided [RCV002918546]|not specified [RCV003403952] |
Chr16:89935772 [GRCh38] Chr16:90002180 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.474G>C (p.Glu158Asp) |
single nucleotide variant |
not provided [RCV002741175] |
Chr16:89934925 [GRCh38] Chr16:90001333 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1323G>C (p.Glu441Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002744106] |
Chr16:89935774 [GRCh38] Chr16:90002182 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.684G>C (p.Leu228=) |
single nucleotide variant |
not provided [RCV002624646] |
Chr16:89935135 [GRCh38] Chr16:90001543 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.342T>C (p.Asp114=) |
single nucleotide variant |
not provided [RCV002624645] |
Chr16:89934793 [GRCh38] Chr16:90001201 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.348C>G (p.Val116=) |
single nucleotide variant |
not provided [RCV002651245] |
Chr16:89934799 [GRCh38] Chr16:90001207 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.558G>A (p.Thr186=) |
single nucleotide variant |
not provided [RCV003011044] |
Chr16:89935009 [GRCh38] Chr16:90001417 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.120G>T (p.Ser40=) |
single nucleotide variant |
not provided [RCV002715647] |
Chr16:89932633 [GRCh38] Chr16:89999041 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.119C>T (p.Ser40Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002855786] |
Chr16:89932632 [GRCh38] Chr16:89999040 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1227C>T (p.Thr409=) |
single nucleotide variant |
not provided [RCV002631024] |
Chr16:89935678 [GRCh38] Chr16:90002086 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.588G>A (p.Thr196=) |
single nucleotide variant |
not provided [RCV003089344] |
Chr16:89935039 [GRCh38] Chr16:90001447 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.899del (p.Met300fs) |
deletion |
Inborn genetic diseases [RCV002717755] |
Chr16:89935350 [GRCh38] Chr16:90001758 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.960C>T (p.Arg320=) |
single nucleotide variant |
not provided [RCV002579916] |
Chr16:89935411 [GRCh38] Chr16:90001819 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.278-16T>C |
single nucleotide variant |
not provided [RCV002576878] |
Chr16:89934713 [GRCh38] Chr16:90001121 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.418G>A (p.Gly140Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002748626] |
Chr16:89934869 [GRCh38] Chr16:90001277 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.750G>A (p.Leu250=) |
single nucleotide variant |
not provided [RCV002658434] |
Chr16:89935201 [GRCh38] Chr16:90001609 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.167-20G>A |
single nucleotide variant |
not provided [RCV002612893] |
Chr16:89933448 [GRCh38] Chr16:89999856 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.114C>T (p.Gly38=) |
single nucleotide variant |
not provided [RCV002635039] |
Chr16:89932627 [GRCh38] Chr16:89999035 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.670G>A (p.Asp224Asn) |
single nucleotide variant |
not provided [RCV003327880] |
Chr16:89935121 [GRCh38] Chr16:90001529 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.439A>C (p.Met147Leu) |
single nucleotide variant |
not provided [RCV003159398] |
Chr16:89934890 [GRCh38] Chr16:90001298 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.50G>T (p.Gly17Val) |
single nucleotide variant |
not provided [RCV003159445] |
Chr16:89923451 [GRCh38] Chr16:89989859 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003223515] |
Chr16:89935589 [GRCh38] Chr16:90001997 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
not provided [RCV003139188] |
Chr16:89935031 [GRCh38] Chr16:90001439 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.958C>T (p.Arg320Cys) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003340863] |
Chr16:89935409 [GRCh38] Chr16:90001817 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.801G>A (p.Met267Ile) |
single nucleotide variant |
not provided [RCV003332655] |
Chr16:89935252 [GRCh38] Chr16:90001660 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.277+143C>T |
single nucleotide variant |
not provided [RCV003419540] |
Chr16:89933721 [GRCh38] Chr16:90000129 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.350T>C (p.Leu117Pro) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003333595] |
Chr16:89934801 [GRCh38] Chr16:90001209 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.802C>T (p.Pro268Ser) |
single nucleotide variant |
not provided [RCV003570870] |
Chr16:89935253 [GRCh38] Chr16:90001661 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.344C>T (p.Ser115Leu) |
single nucleotide variant |
Complex cortical dysplasia with other brain malformations 1 [RCV003482197] |
Chr16:89934795 [GRCh38] Chr16:90001203 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.291C>T (p.Ala97=) |
single nucleotide variant |
not provided [RCV003428018] |
Chr16:89934742 [GRCh38] Chr16:90001150 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.647A>G (p.Lys216Arg) |
single nucleotide variant |
TUBB3-related disorder [RCV004550721] |
Chr16:89935098 [GRCh38] Chr16:90001506 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1188C>G (p.His396Gln) |
single nucleotide variant |
Neurodevelopmental disorder [RCV003389173] |
Chr16:89935639 [GRCh38] Chr16:90002047 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.115G>A (p.Asp39Asn) |
single nucleotide variant |
not provided [RCV003428016] |
Chr16:89932628 [GRCh38] Chr16:89999036 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.844C>G (p.Arg282Gly) |
single nucleotide variant |
TUBB3-related disorder [RCV004550588] |
Chr16:89935295 [GRCh38] Chr16:90001703 [GRCh37] Chr16:16q24.3 |
likely pathogenic|uncertain significance |
NM_006086.4(TUBB3):c.278-404C>T |
single nucleotide variant |
not provided [RCV003413065] |
Chr16:89934325 [GRCh38] Chr16:90000733 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.277+155G>A |
single nucleotide variant |
not provided [RCV003428017] |
Chr16:89933733 [GRCh38] Chr16:90000141 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.58-3C>A |
single nucleotide variant |
not provided [RCV003828282] |
Chr16:89932568 [GRCh38] Chr16:89998976 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.49G>C (p.Gly17Arg) |
single nucleotide variant |
not provided [RCV003689760] |
Chr16:89923450 [GRCh38] Chr16:89989858 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.278-19C>T |
single nucleotide variant |
not provided [RCV003830514] |
Chr16:89934710 [GRCh38] Chr16:90001118 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.523G>T (p.Val175Leu) |
single nucleotide variant |
not provided [RCV003694757] |
Chr16:89934974 [GRCh38] Chr16:90001382 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.72C>T (p.Ile24=) |
single nucleotide variant |
not provided [RCV003825296] |
Chr16:89932585 [GRCh38] Chr16:89998993 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1326G>A (p.Glu442=) |
single nucleotide variant |
not provided [RCV003825471] |
Chr16:89935777 [GRCh38] Chr16:90002185 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.31C>A (p.Gln11Lys) |
single nucleotide variant |
not provided [RCV003716704] |
Chr16:89923432 [GRCh38] Chr16:89989840 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.5G>T (p.Arg2Met) |
single nucleotide variant |
not provided [RCV003578817] |
Chr16:89923406 [GRCh38] Chr16:89989814 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.167-19A>C |
single nucleotide variant |
not provided [RCV003715525] |
Chr16:89933449 [GRCh38] Chr16:89999857 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.501C>T (p.Phe167=) |
single nucleotide variant |
not provided [RCV003811139] |
Chr16:89934952 [GRCh38] Chr16:90001360 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1303G>A (p.Glu435Lys) |
single nucleotide variant |
not provided [RCV003833785] |
Chr16:89935754 [GRCh38] Chr16:90002162 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.58-20C>T |
single nucleotide variant |
not provided [RCV003833100] |
Chr16:89932551 [GRCh38] Chr16:89998959 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.816C>G (p.Pro272=) |
single nucleotide variant |
not provided [RCV003559802] |
Chr16:89935267 [GRCh38] Chr16:90001675 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.278-5T>C |
single nucleotide variant |
not provided [RCV003664495] |
Chr16:89934724 [GRCh38] Chr16:90001132 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.345G>A (p.Ser115=) |
single nucleotide variant |
not provided [RCV003717085] |
Chr16:89934796 [GRCh38] Chr16:90001204 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.138G>A (p.Arg46=) |
single nucleotide variant |
not provided [RCV003816161] |
Chr16:89932651 [GRCh38] Chr16:89999059 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1128G>T (p.Glu376Asp) |
single nucleotide variant |
not provided [RCV003561700] |
Chr16:89935579 [GRCh38] Chr16:90001987 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.909C>T (p.Cys303=) |
single nucleotide variant |
not provided [RCV003835790] |
Chr16:89935360 [GRCh38] Chr16:90001768 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.156C>G (p.Asn52Lys) |
single nucleotide variant |
not provided [RCV003838427] |
Chr16:89932669 [GRCh38] Chr16:89999077 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.904G>T (p.Ala302Ser) |
single nucleotide variant |
not provided [RCV003565700] |
Chr16:89935355 [GRCh38] Chr16:90001763 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.1157C>T (p.Thr386Met) |
single nucleotide variant |
not provided [RCV003847110] |
Chr16:89935608 [GRCh38] Chr16:90002016 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.166+8C>A |
single nucleotide variant |
not provided [RCV003670849] |
Chr16:89932687 [GRCh38] Chr16:89999095 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.229C>T (p.Arg77Cys) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003984298] |
Chr16:89933530 [GRCh38] Chr16:89999938 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1044C>T (p.Asn348=) |
single nucleotide variant |
not provided [RCV003722000] |
Chr16:89935495 [GRCh38] Chr16:90001903 [GRCh37] Chr16:16q24.3 |
benign |
NM_006086.4(TUBB3):c.985C>G (p.Gln329Glu) |
single nucleotide variant |
not provided [RCV003684790] |
Chr16:89935436 [GRCh38] Chr16:90001844 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.371G>C (p.Cys124Ser) |
single nucleotide variant |
TUBB3-related tubulinopathy [RCV003983793] |
Chr16:89934822 [GRCh38] Chr16:90001230 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.552C>T (p.Asn184=) |
single nucleotide variant |
not provided [RCV003732650] |
Chr16:89935003 [GRCh38] Chr16:90001411 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.418G>C (p.Gly140Arg) |
single nucleotide variant |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement [RCV003991834] |
Chr16:89934869 [GRCh38] Chr16:90001277 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.596C>T (p.Thr199Ile) |
single nucleotide variant |
not provided [RCV003887324] |
Chr16:89935047 [GRCh38] Chr16:90001455 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1248C>T (p.Asn416=) |
single nucleotide variant |
TUBB3-related disorder [RCV004548862] |
Chr16:89935699 [GRCh38] Chr16:90002107 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.639C>T (p.Arg213=) |
single nucleotide variant |
TUBB3-related disorder [RCV004551037] |
Chr16:89935090 [GRCh38] Chr16:90001498 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.95C>G (p.Pro32Arg) |
single nucleotide variant |
not specified [RCV003988562] |
Chr16:89932608 [GRCh38] Chr16:89999016 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.325G>C (p.Gly109Arg) |
single nucleotide variant |
TUBB3-related disorder [RCV004548964] |
Chr16:89934776 [GRCh38] Chr16:90001184 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.953G>A (p.Arg318Gln) |
single nucleotide variant |
Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991633] |
Chr16:89935404 [GRCh38] Chr16:90001812 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.673C>T (p.Leu225Phe) |
single nucleotide variant |
TUBB3-related disorder [RCV004552873] |
Chr16:89935124 [GRCh38] Chr16:90001532 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 |
copy number gain |
not provided [RCV004577473] |
Chr16:82865402..90163542 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
NM_006086.4(TUBB3):c.1226C>T (p.Thr409Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004481626] |
Chr16:89935677 [GRCh38] Chr16:90002085 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.959G>T (p.Arg320Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004481627]|not provided [RCV004767555] |
Chr16:89935410 [GRCh38] Chr16:90001818 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_88717344)_(90106937_?)dup |
duplication |
KBG syndrome [RCV004581568] |
Chr16:88717344..90106937 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_89865554)_(90109753_?)del |
deletion |
Fanconi anemia [RCV004581468] |
Chr16:89865554..90109753 [GRCh37] Chr16:16q24.3 |
pathogenic |
NC_000016.9:g.(?_89874682)_(90002212_?)del |
deletion |
Fanconi anemia [RCV004581477] |
Chr16:89874682..90002212 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_006086.4(TUBB3):c.26C>A (p.Ala9Asp) |
single nucleotide variant |
not specified [RCV004689481] |
Chr16:89923427 [GRCh38] Chr16:89989835 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1016G>C (p.Ser339Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004682969] |
Chr16:89935467 [GRCh38] Chr16:90001875 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.387C>T (p.Cys129=) |
single nucleotide variant |
not provided [RCV004585430] |
Chr16:89934838 [GRCh38] Chr16:90001246 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_006086.4(TUBB3):c.1015A>T (p.Ser339Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004682968] |
Chr16:89935466 [GRCh38] Chr16:90001874 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.900G>A (p.Met300Ile) |
single nucleotide variant |
TUBB3-related disorder [RCV004736755] |
Chr16:89935351 [GRCh38] Chr16:90001759 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.772G>T (p.Val258Leu) |
single nucleotide variant |
not provided [RCV004725913] |
Chr16:89935223 [GRCh38] Chr16:90001631 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.83A>G (p.His28Arg) |
single nucleotide variant |
not provided [RCV004759914] |
|
uncertain significance |
NM_006086.4(TUBB3):c.358G>T (p.Val120Leu) |
single nucleotide variant |
not provided [RCV004760101] |
|
uncertain significance |
NM_006086.4(TUBB3):c.205G>C (p.Glu69Gln) |
single nucleotide variant |
not provided [RCV004760166] |
|
uncertain significance |
NM_006086.4(TUBB3):c.1282G>A (p.Ala428Thr) |
single nucleotide variant |
not provided [RCV004773523] |
Chr16:89935733 [GRCh38] Chr16:90002141 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1334A>G (p.Glu445Gly) |
single nucleotide variant |
not provided [RCV004761631] |
|
uncertain significance |
NM_006086.4(TUBB3):c.1213G>C (p.Glu405Gln) |
single nucleotide variant |
not provided [RCV004772569] |
Chr16:89935664 [GRCh38] Chr16:90002072 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_006086.4(TUBB3):c.1318G>T (p.Asp440Tyr) |
single nucleotide variant |
not provided [RCV004761234] |
|
uncertain significance |
NM_006086.4(TUBB3):c.74G>A (p.Ser25Asn) |
single nucleotide variant |
not provided [RCV004719479] |
Chr16:89932587 [GRCh38] Chr16:89998995 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_006086.4(TUBB3):c.1168C>T (p.Arg390Trp) |
single nucleotide variant |
TUBB3-related disorder [RCV004730045] |
Chr16:89935619 [GRCh38] Chr16:90002027 [GRCh37] Chr16:16q24.3 |
uncertain significance |