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.6289G>T (p.Glu2097Ter)	ATM	Pathogenic/Likely pathogenic	11	108188190	108188190	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382552045
Deletion	NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)	ATM	Pathogenic	11	108190702	108190703	GTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656219
Duplication	NM_000051.4(ATM):c.6748dup (p.Ile2250fs)	ATM	Pathogenic	11	108196211	108196212	C	CA	criteria provided, single submitter	ClinGen:CA658656266
Deletion	NM_000051.4(ATM):c.7044_7047del (p.Thr2348_Cys2349insTer)	ATM	Pathogenic	11	108198439	108198442	ACGTG	A	criteria provided, single submitter	ClinGen:CA658656287
single nucleotide variant	NM_000051.4(ATM):c.7089+1G>A	ATM	Likely pathogenic	11	108198486	108198486	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228414402
single nucleotide variant	NM_000051.4(ATM):c.7308-1G>C	ATM	Likely pathogenic	11	108200940	108200940	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382559857
single nucleotide variant	NM_000051.4(ATM):c.331+1G>A	ATM	Pathogenic/Likely pathogenic	11	108100051	108100051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382521837
Deletion	NM_000051.4(ATM):c.495_496+16del	ATM	Pathogenic/Likely pathogenic	11	108106556	108106573	TGGTTAGGTATGTTTTGAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656163
Deletion	NM_000051.4(ATM):c.1215del (p.Asn405fs)	ATM	Pathogenic/Likely pathogenic	11	108119809	108119809	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656221
Duplication	NM_000051.4(ATM):c.2966dup (p.Ile990fs)	ATM	Pathogenic/Likely pathogenic	11	108142021	108142022	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656165