Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys) | 7277 | TUBA4A | Uncertain significance | -1 | RCV003148361|RCV003317661; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803|MedGen:CN169374 | 2 | 220115178 | 220115178 | | | | - | | |
NM_006000.3(TUBA4A):c.1220G>A (p.Trp407Ter) | 7277 | TUBA4A | Pathogenic | 730880027 | RCV000157036; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803 | 2 | 220115201 | 220115201 | | | 2:g.220115201C>T | ClinGen:CA185901,OMIM:191110.0003 | C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; | |
NM_006000.3(TUBA4A):c.1147G>A (p.Ala383Thr) | 7277 | TUBA4A | Pathogenic | 368743618 | RCV000157038; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803 | 2 | 220115274 | 220115274 | | | 2:g.220115274C>T | ClinGen:CA185904,UniProtKB:P68366#VAR_072718,OMIM:191110.0005 | C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; | |
NM_006000.3(TUBA4A):c.1025A>G (p.Gln342Arg) | 7277 | TUBA4A | Uncertain significance | -1 | RCV003139184; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803 | 2 | 220115396 | 220115396 | | | NC_000002.11:g.220115396T>C | - | | |
NM_006000.3(TUBA4A):c.959G>A (p.Arg320His) | 7277 | TUBA4A | Pathogenic | 730880026 | RCV000157035; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803 | 2 | 220115462 | 220115462 | | | 2:g.220115462C>T | ClinGen:CA185900,UniProtKB:P68366#VAR_072717,OMIM:191110.0002 | C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; | |
NM_006000.3(TUBA4A):c.958C>T (p.Arg320Cys) | 7277 | TUBA4A | Likely pathogenic | 730880025 | RCV000157034|RCV003227679; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803|MedGen:C3661900 | 2 | 220115463 | 220115463 | | | 2:g.220115463G>A | ClinGen:CA185899,UniProtKB:P68366#VAR_072716,OMIM:191110.0001 | C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; | |
NM_006000.3(TUBA4A):c.842C>T (p.Ala281Val) | 7277 | TUBA4A | Uncertain significance | -1 | RCV003139185; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803 | 2 | 220115579 | 220115579 | | | NC_000002.11:g.220115579G>A | - | | |
NM_006000.3(TUBA4A):c.433A>C (p.Thr145Pro) | 7277 | TUBA4A | Pathogenic | 730880029 | RCV000157039; | N | MONDO:MONDO:0014531,MedGen:C4015512,OMIM:616208, Orphanet:803 | 2 | 220115988 | 220115988 | | | 2:g.220115988T>G | OMIM:191110.0006,ClinGen:CA185905,UniProtKB:P68366#VAR_072714 | C4015512 616208 Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; | |