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.8835_8836del (p.Leu2946fs)	ATM	Pathogenic/Likely pathogenic	11	108225585	108225586	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA193313
Deletion	NM_000051.4(ATM):c.8942del (p.His2981fs)	ATM	Pathogenic	11	108235900	108235900	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196786
single nucleotide variant	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	ATM	Pathogenic/Likely pathogenic	11	108235935	108235935	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA194505
single nucleotide variant	NM_000051.4(ATM):c.8987+1G>C	ATM	Pathogenic	11	108235946	108235946	G	C	criteria provided, single submitter	ClinGen:CA197313
single nucleotide variant	NM_000051.4(ATM):c.8988-2A>G	ATM	Pathogenic/Likely pathogenic	11	108236050	108236050	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA191650
single nucleotide variant	NM_000051.4(ATM):c.72+1G>A	ATM	Pathogenic/Likely pathogenic	11	108098424	108098424	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA334106
single nucleotide variant	NM_000051.4(ATM):c.2921+1G>C	ATM	Pathogenic/Likely pathogenic	11	108141874	108141874	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334038
single nucleotide variant	NM_000051.4(ATM):c.3G>A (p.Met1Ile)	ATM	Pathogenic/Likely pathogenic	11	108098354	108098354	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274099
Deletion	NM_000051.4(ATM):c.640del (p.Ser214fs)	ATM	Pathogenic/Likely pathogenic	11	108114817	108114817	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA274091
single nucleotide variant	NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	ATM	Pathogenic/Likely pathogenic	11	108115654	108115654	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274188