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
Deletion	NM_000051.4(ATM):c.5712del (p.Lys1904fs)	ATM	Pathogenic/Likely pathogenic	11	108178656	108178656	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656267
Deletion	NM_000051.4(ATM):c.8586del (p.Gly2863fs)	ATM	Likely pathogenic	11	108218006	108218006	GT	G	criteria provided, single submitter	ClinGen:CA658656265
single nucleotide variant	NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)	ATM	Pathogenic/Likely pathogenic	11	108224546	108224546	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382523884
Deletion	NM_000051.4(ATM):c.172del (p.Asp58fs)	ATM	Pathogenic	11	108098600	108098600	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683702
Duplication	NM_000051.4(ATM):c.2195dup (p.Met732fs)	ATM	Pathogenic	11	108127011	108127012	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683735
single nucleotide variant	NM_000051.4(ATM):c.2376+1G>A	ATM	Likely pathogenic	11	108128334	108128334	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382540432
single nucleotide variant	NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)	ATM	Pathogenic	11	108129801	108129801	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382541426
single nucleotide variant	NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)	ATM	Pathogenic	11	108139232	108139232	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265104
single nucleotide variant	NM_000051.4(ATM):c.471T>A (p.Cys157Ter)	ATM	Pathogenic/Likely pathogenic	11	108106536	108106536	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382525531
single nucleotide variant	NM_000051.4(ATM):c.3994-2A>C	ATM	Likely pathogenic	11	108158325	108158325	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382527395