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.4303A>T (p.Lys1435Ter)	ATM	Pathogenic	11	108160395	108160395	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382531617
single nucleotide variant	NM_000051.4(ATM):c.5497-2A>C	ATM	Pathogenic/Likely pathogenic	11	108175400	108175400	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382545605
Indel	NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)	ATM	Pathogenic/Likely pathogenic	11	108186556	108186556	C	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656175
single nucleotide variant	NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter)	ATM	Pathogenic	11	108188228	108188228	G	A	criteria provided, single submitter	ClinGen:CA382552243
single nucleotide variant	NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)	ATM	Pathogenic/Likely pathogenic	11	108192065	108192065	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382554013
single nucleotide variant	NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)	ATM	Pathogenic/Likely pathogenic	11	108203565	108203565	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382561402
single nucleotide variant	NM_000051.4(ATM):c.8152-1G>A	ATM	Pathogenic/Likely pathogenic	11	108206571	108206571	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382562325
Deletion	NM_000051.4(ATM):c.8585-13_8598del	ATM	Pathogenic/Likely pathogenic	11	108217991	108218017	TTTCTTTTTTCTCCAGTTGGTTACATAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656263
single nucleotide variant	NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)	ATM	Pathogenic/Likely pathogenic	11	108225544	108225544	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382525570
Deletion	NC_000011.9:g.(?_108150212)_(108216641_?)del	ATM	Pathogenic	11	108150212	108216641	na	na	criteria provided, single submitter	-