Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_001961.4(EEF2):c.2241G>A (p.Val747=) | 1938 | EEF2 | Conflicting interpretations of pathogenicity | rs772173797 | RCV000711580|RCV001809777; | N | MedGen:CN517202|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112 | 19 | 3977435 | 3977435 | C | T | NC_000019.9:g.3977435C>T | - | | |
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) | 1938 | EEF2 | Benign | rs36527 | RCV000116940|RCV000991947|RCV001657724; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112 | 19 | 3977486 | 3977486 | A | G | NC_000019.9:g.3977486A>G | ClinGen:CA214488 | CN169374 not specified; | |
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) | 1938 | EEF2 | not provided | rs945307250 | RCV000509395; | N | MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112 | 19 | 3977905 | 3977905 | T | C | NC_000019.9:g.3977905T>C | ClinGen:CA304442033 | C1836395 609306 Spinocerebellar ataxia 26; | |
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) | 1938 | EEF2 | Pathogenic | rs587777052 | RCV000056312|RCV001288169; | N | MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112|MedGen:CN517202 | 19 | 3978097 | 3978097 | G | T | 19:g.3978097G>T | ClinGen:CA264797,UniProtKB:P13639#VAR_070792,OMIM:130610.0001 | C1836395 609306 Spinocerebellar ataxia 26; | |
NM_001961.4(EEF2):c.1632T>C (p.His544=) | 1938 | EEF2 | Benign | rs36526 | RCV000116939|RCV000991944|RCV001657723; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112 | 19 | 3979408 | 3979408 | A | G | NC_000019.9:g.3979408A>G | ClinGen:CA214486 | CN169374 not specified; | |
NM_001961.4(EEF2):c.1150+15T>C | 1938 | EEF2 | Benign | -1 | RCV001661269|RCV001694150; | N | MONDO:MONDO:0012246,MedGen:C1836395,OMIM:609306, Orphanet:101112|MedGen:CN517202 | 19 | 3980824 | 3980824 | A | G | 3980824 | - | | |