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
Duplication	NM_000051.4(ATM):c.1978dup (p.Met660fs)	ATM	Pathogenic	11	108124619	108124620	G	GA	criteria provided, single submitter	ClinGen:CA658656183
single nucleotide variant	NM_000051.4(ATM):c.2050C>T (p.Gln684Ter)	ATM	Pathogenic	11	108124692	108124692	C	T	criteria provided, single submitter	ClinGen:CA382537449
Deletion	NM_000051.4(ATM):c.5594_5595del (p.His1865fs)	ATM	Pathogenic	11	108175499	108175500	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656260
single nucleotide variant	NM_000051.4(ATM):c.2250+2T>C	ATM	Pathogenic/Likely pathogenic	11	108127069	108127069	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382539329
single nucleotide variant	NM_000051.4(ATM):c.5763-2A>G	ATM	Likely pathogenic	11	108180885	108180885	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548271
Deletion	NM_000051.4(ATM):c.708del (p.Thr237fs)	ATM	Pathogenic	11	108115559	108115559	CT	C	criteria provided, single submitter	ClinGen:CA658656180
Deletion	NM_000051.4(ATM):c.855del (p.Gln286fs)	ATM	Pathogenic	11	108115707	108115707	TG	T	criteria provided, single submitter	ClinGen:CA658656191
Deletion	NM_000051.4(ATM):c.900del (p.Gly301fs)	ATM	Pathogenic/Likely pathogenic	11	108115748	108115748	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656193
single nucleotide variant	NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)	ATM	Pathogenic	11	108186570	108186570	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382549871
single nucleotide variant	NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)	ATM	Pathogenic	11	108117852	108117852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382531853