原発性免疫不全症候群

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter)	ATM	Pathogenic	11	108175454	108175454	T	A	criteria provided, single submitter	ClinGen:CA10582832
Deletion	NM_000051.4(ATM):c.6239_6240del (p.Tyr2080fs)	ATM	Pathogenic	11	108188139	108188140	CTA	C	criteria provided, single submitter	ClinGen:CA10582837
Deletion	NM_000051.4(ATM):c.6373del (p.His2125fs)	ATM	Pathogenic	11	108190705	108190705	AC	A	criteria provided, single submitter	ClinGen:CA10582838
Deletion	NM_000051.4(ATM):c.6667del (p.Ile2223fs)	ATM	Pathogenic	11	108196131	108196131	TA	T	criteria provided, single submitter	ClinGen:CA10582841
Deletion	NM_000051.4(ATM):c.7091del (p.Ala2364fs)	ATM	Pathogenic	11	108199749	108199749	GC	G	criteria provided, single submitter	ClinGen:CA10582846
single nucleotide variant	NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)	ATM	Pathogenic	11	108202218	108202218	C	G	criteria provided, single submitter	ClinGen:CA10582854
Deletion	NM_000051.4(ATM):c.8del (p.Leu3fs)	ATM	Pathogenic/Likely pathogenic	11	108098359	108098359	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584313
Deletion	NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)	ATM	Pathogenic/Likely pathogenic	11	108115532	108115532	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584316
single nucleotide variant	NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	ATM	Pathogenic	11	108121655	108121655	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584324
single nucleotide variant	NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)	ATM	Pathogenic/Likely pathogenic	11	108124560	108124560	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584327