Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006009.3(TUBA1A):c.1274T>A (p.Met425Lys) | 7846 | TUBA1A | Likely pathogenic | 587784484 | RCV000147800; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578875 | 49578875 | NM_006009.3:c.1274T>A | NP_006000.2:p.Met425Lys | NC_000012.11:g.49578875A>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1265G>A (p.Arg422His) | 7846 | TUBA1A | Pathogenic | 137853050 | RCV000007493; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578884 | 49578884 | NM_006009.3:c.1265G>A | NP_006000.2:p.Arg422His | NC_000012.11:g.49578884C>T | OMIM Allelic Variant:602529.0008 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1264C>T (p.Arg422Cys) | 7846 | TUBA1A | Pathogenic | 137853049 | RCV000007492; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578885 | 49578885 | NM_006009.3:c.1264C>T | NP_006000.2:p.Arg422Cys | NC_000012.11:g.49578885G>A | OMIM Allelic Variant:602529.0007 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1256C>T (p.Ser419Leu) | 7846 | TUBA1A | Pathogenic | 137853047 | RCV000007490; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578893 | 49578893 | NM_006009.3:c.1256C>T | NP_006000.2:p.Ser419Leu | NC_000012.11:g.49578893G>A | OMIM Allelic Variant:602529.0005 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1226T>C (p.Val409Ala) | 7846 | TUBA1A | Pathogenic | 797045005 | RCV000190503; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578923 | 49578923 | NM_006009.3:c.1226T>C | NP_006000.2:p.Val409Ala | NC_000012.11:g.49578923A>G | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1224C>A (p.Tyr408Ter) | 7846 | TUBA1A | Pathogenic | 753719501 | RCV000191138; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578925 | 49578925 | NM_006009.3:c.1224C>A | NP_006000.2:p.Tyr408Ter | NC_000012.11:g.49578925G>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1205G>A (p.Arg402His) | 7846 | TUBA1A | Pathogenic | 137853044 | RCV000007487; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578944 | 49578944 | NM_006009.3:c.1205G>A | NP_006000.2:p.Arg402His | NC_000012.11:g.49578944C>A,NC_000012.11:g.49578944C>T | OMIM Allelic Variant:602529.0002 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1205G>T (p.Arg402Leu) | 7846 | TUBA1A | Pathogenic | 137853044 | RCV000147799; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578944 | 49578944 | NM_006009.3:c.1205G>T | NP_006000.2:p.Arg402Leu | NC_000012.11:g.49578944C>A,NC_000012.11:g.49578944C>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1204C>T (p.Arg402Cys) | 7846 | TUBA1A | Pathogenic | 587784483 | RCV000147798; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578945 | 49578945 | NM_006009.3:c.1204C>T | NP_006000.2:p.Arg402Cys | NC_000012.11:g.49578945G>A,NC_000012.11:g.49578945G>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1204C>A (p.Arg402Ser) | 7846 | TUBA1A | Likely pathogenic | 587784483 | RCV000147797; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578945 | 49578945 | NM_006009.3:c.1204C>A | NP_006000.2:p.Arg402Ser | NC_000012.11:g.49578945G>A,NC_000012.11:g.49578945G>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1190T>C (p.Leu397Pro) | 7846 | TUBA1A | Pathogenic | 137853048 | RCV000007491; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49578959 | 49578959 | NM_006009.3:c.1190T>C | NP_006000.2:p.Leu397Pro | NC_000012.11:g.49578959A>G | OMIM Allelic Variant:602529.0006 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1148C>T (p.Ala383Val) | 7846 | TUBA1A | Likely pathogenic;Pathogenic | 587784482 | RCV000147795; RCV000201372; | N | Human Phenotype Ontology:HP:0002269,Human Phenotype Ontology:HP:0007317,MedGen:CN002060; MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579001 | 49579001 | NM_006009.3:c.1148C>T | NP_006000.2:p.Ala383Val | NC_000012.11:g.49579001G>A | - | CN002060 Abnormality of neuronal migration; C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1129A>G (p.Met377Val) | 7846 | TUBA1A | Likely pathogenic | 587784481 | RCV000147794; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579020 | 49579020 | NM_006009.3:c.1129A>G | NP_006000.2:p.Met377Val | NC_000012.11:g.49579020T>C | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.1105G>A (p.Ala369Thr) | 7846 | TUBA1A | Likely pathogenic | 797046071 | RCV000194532; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579044 | 49579044 | NM_006009.3:c.1105G>A | NP_006000.2:p.Ala369Thr | NC_000012.11:g.49579044C>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.995T>C (p.Ile332Thr) | 7846 | TUBA1A | Likely pathogenic | 587784497 | RCV000147823; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579154 | 49579154 | NM_006009.3:c.995T>C | NP_006000.2:p.Ile332Thr | NC_000012.11:g.49579154A>G | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.991G>A (p.Ala331Thr) | 7846 | TUBA1A | Uncertain significance | 587784496 | RCV000147822; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579158 | 49579158 | NM_006009.3:c.991G>A | NP_006000.2:p.Ala331Thr | NC_000012.11:g.49579158C>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.986A>G (p.Asn329Ser) | 7846 | TUBA1A | Likely pathogenic | 587784495 | RCV000147821; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579163 | 49579163 | NM_006009.3:c.986A>G | NP_006000.2:p.Asn329Ser | NC_000012.11:g.49579163T>C | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.970G>C (p.Val324Leu) | 7846 | TUBA1A | Likely pathogenic | 797046073 | RCV000194600; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579179 | 49579179 | NM_006009.3:c.970G>C | NP_006000.2:p.Val324Leu | NC_000012.11:g.49579179C>G | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.966C>T (p.Asp322=) | 7846 | TUBA1A | Uncertain significance | 142641191 | RCV000147819; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579183 | 49579183 | NM_006009.3:c.966C>T | NP_006000.2:p.Asp322= | NC_000012.11:g.49579183G>A | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.808G>T (p.Ala270Ser) | 7846 | TUBA1A | Likely pathogenic | 587784494 | RCV000147818; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579341 | 49579341 | NM_006009.3:c.808G>T | NP_006000.2:p.Ala270Ser | NC_000012.11:g.49579341C>A | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.790C>T (p.Arg264Cys) | 7846 | TUBA1A | Pathogenic | 137853043 | RCV000007486; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579359 | 49579359 | NM_006009.3:c.790C>T | NP_006000.2:p.Arg264Cys | NC_000012.11:g.49579359G>A | OMIM Allelic Variant:602529.0001 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.787C>A (p.Pro263Thr) | 7846 | TUBA1A | Pathogenic | 137853046 | RCV000007489; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579362 | 49579362 | NM_006009.3:c.787C>A | NP_006000.2:p.Pro263Thr | NC_000012.11:g.49579362G>T | OMIM Allelic Variant:602529.0004 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.758C>G (p.Thr253Arg) | 7846 | TUBA1A | Uncertain significance | 587784493 | RCV000147817; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579391 | 49579391 | NM_006009.3:c.758C>G | NP_006000.2:p.Thr253Arg | NC_000012.11:g.49579391G>C | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.698A>G (p.Gln233Arg) | 7846 | TUBA1A | Likely pathogenic | 587784492 | RCV000147816; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579451 | 49579451 | NM_006009.3:c.698A>G | NP_006000.2:p.Gln233Arg | NC_000012.11:g.49579451T>C | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.562_564dupATC (p.Ile188_Leu189insIle) | 7846 | TUBA1A | Uncertain significance | 587784490 | RCV000147814; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579585 | 49579587 | NM_006009.3:c.562_564dupATC | NP_006000.2:p.Ile188_Leu189insIle | NC_000012.11:g.49579585_49579587dupGAT | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.562A>C (p.Ile188Leu) | 7846 | TUBA1A | Pathogenic | 137853045 | RCV000007488; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579587 | 49579587 | NM_006009.3:c.562A>C | NP_006000.2:p.Ile188Leu | NC_000012.11:g.49579587T>G | OMIM Allelic Variant:602529.0003 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val) | 7846 | TUBA1A | Uncertain significance | 587784489 | RCV000147812; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579628 | 49579628 | NM_006009.3:c.521C>T | NP_006000.2:p.Ala174Val | NC_000012.11:g.49579628G>A | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.481T>G (p.Tyr161Asp) | 7846 | TUBA1A | Pathogenic | 587784488 | RCV000147810; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49579668 | 49579668 | NM_006009.3:c.481T>G | NP_006000.2:p.Tyr161Asp | NC_000012.11:g.49579668A>C | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.352G>A (p.Val118Met) | 7846 | TUBA1A | Likely pathogenic | 863224938 | RCV000199824; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580116 | 49580116 | NM_006009.3:c.352G>A | NP_006000.2:p.Val118Met | NC_000012.11:g.49580116C>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.269A>G (p.Glu90Gly) | 7846 | TUBA1A | Likely pathogenic | 797046072 | RCV000194237; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580199 | 49580199 | NM_006009.3:c.269A>G | NP_006000.2:p.Glu90Gly | NC_000012.11:g.49580199T>C | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.189C>T (p.Pro63=) | 7846 | TUBA1A | Uncertain significance | 147273934 | RCV000147803; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580431 | 49580431 | NM_006009.3:c.189C>T | NP_006000.2:p.Pro63= | NC_000012.11:g.49580431G>A | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.162T>A (p.Ser54Arg) | 7846 | TUBA1A | Likely pathogenic | 587784486 | RCV000147802; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580458 | 49580458 | NM_006009.3:c.162T>A | NP_006000.2:p.Ser54Arg | NC_000012.11:g.49580458A>T | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.152C>T (p.Thr51Ile) | 7846 | TUBA1A | Likely pathogenic | 587784485 | RCV000147801; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580468 | 49580468 | NM_006009.3:c.152C>T | NP_006000.2:p.Thr51Ile | NC_000012.11:g.49580468G>A | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.96C>T (p.Pro32=) | 7846 | TUBA1A | Uncertain significance | 139102191 | RCV000147820; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580524 | 49580524 | NM_006009.3:c.96C>T | NP_006000.2:p.Pro32= | NC_000012.11:g.49580524G>A | - | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.13A>C (p.Ile5Leu) | 7846 | TUBA1A | Pathogenic | 387906840 | RCV000023197; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580607 | 49580607 | NM_006009.3:c.13A>C | NP_006000.2:p.Ile5Leu | NC_000012.11:g.49580607T>G | OMIM Allelic Variant:602529.0009 | C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.5G>A (p.Arg2His) | 7846 | TUBA1A | Likely pathogenic;Pathogenic | 587784491 | RCV000147815; RCV000190671; | N | MedGen:C0950123; MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580615 | 49580615 | NM_006009.3:c.5G>A | NP_006000.2:p.Arg2His | NC_000012.11:g.49580615C>T | - | C0950123 Inborn genetic diseases; C1969029 611603 Lissencephaly 3 | | |
NM_006009.3(TUBA1A):c.4-7C>T | 7846 | TUBA1A | Uncertain significance | 560491477 | RCV000147808; | N | MedGen:C1969029,OMIM:611603,ORPHA:171680 | 12 | 49580623 | 49580623 | NM_006009.3:c.4-7C>T | | NC_000012.11:g.49580623G>A | - | C1969029 611603 Lissencephaly 3 | | |