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.5935G>T (p.Glu1979Ter)	ATM	Pathogenic	11	108183154	108183154	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548661
Duplication	NM_000051.4(ATM):c.5959dup (p.Ser1987fs)	ATM	Pathogenic	11	108183175	108183176	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656172
single nucleotide variant	NM_000051.4(ATM):c.6002T>G (p.Leu2001Ter)	ATM	Pathogenic	11	108183221	108183221	T	G	criteria provided, single submitter	ClinGen:CA382548810
Deletion	NM_000051.4(ATM):c.8615_8616del (p.His2872fs)	ATM	Pathogenic/Likely pathogenic	11	108218036	108218037	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA601698941
single nucleotide variant	NM_000051.4(ATM):c.8850+1G>A	ATM	Likely pathogenic	11	108225602	108225602	G	A	criteria provided, single submitter	ClinGen:CA382526127
Duplication	NM_000051.4(ATM):c.8874dup (p.Asp2959Ter)	ATM	Pathogenic	11	108235829	108235830	C	CT	criteria provided, single submitter	ClinGen:CA658656275
single nucleotide variant	NM_000051.4(ATM):c.4436+2T>C	ATM	Pathogenic/Likely pathogenic	11	108160530	108160530	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532302
Deletion	NM_000051.4(ATM):c.4451del (p.Met1484fs)	ATM	Pathogenic/Likely pathogenic	11	108163360	108163360	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656171
single nucleotide variant	NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)	ATM	Pathogenic/Likely pathogenic	11	108196050	108196050	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382554668
single nucleotide variant	NM_000051.4(ATM):c.4776+1G>T	ATM	Pathogenic/Likely pathogenic	11	108164205	108164205	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265538