Knowledge base for genomic medicine in Japanese
原発性免疫不全症候群
小児・神経疾患
Excelでダウンロード
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_000051.4(ATM):c.103C>T (p.Arg35Ter)ATMPathogenic/Likely pathogenic11108098533108098533CTcriteria provided, multiple submitters, no conflictsClinGen:CA166087,OMIM:607585.0008
single nucleotide variantNM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)ATMPathogenic11108236203108236203CTreviewed by expert panelClinGen:CA115937,OMIM:607585.0012
IndelNM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)ATMPathogenic/Likely pathogenic11108203575108203576TGGCcriteria provided, multiple submitters, no conflictsClinGen:CA211317,OMIM:607585.0013
IndelNM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)ATMPathogenic11108143540108143542ATCTGATreviewed by expert panelClinGen:CA298025,OMIM:607585.0016
single nucleotide variantNM_000051.4(ATM):c.3576G>A (p.Lys1192=)ATMPathogenic/Likely pathogenic11108151895108151895GAcriteria provided, multiple submitters, no conflictsOMIM:607585.0018,ClinGen:CA193897
single nucleotide variantNM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)ATMPathogenic/Likely pathogenic11108200960108200960CTcriteria provided, multiple submitters, no conflictsOMIM:607585.0019,ClinGen:CA325513
single nucleotide variantNM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)ATMPathogenic11108158414108158414CTcriteria provided, single submitterClinGen:CA249428,OMIM:607585.0024
single nucleotide variantNM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)ATMPathogenic11108172506108172506CGcriteria provided, multiple submitters, no conflictsClinGen:CA115949,OMIM:607585.0025
DeletionNM_000051.3(ATM):c.2839-579_2839-576delATMPathogenic/Likely pathogenic11108141210108141213GGTAAGcriteria provided, multiple submitters, no conflictsClinGen:CA252541,OMIM:607585.0026
single nucleotide variantNM_000051.4(ATM):c.2250G>A (p.Lys750=)ATMPathogenic/Likely pathogenic11108127067108127067GAcriteria provided, multiple submitters, no conflictsClinGen:CA286741,OMIM:607585.0027