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.3931C>T (p.Gln1311Ter)	ATM	Pathogenic	11	108155138	108155138	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286822
Deletion	NM_000051.4(ATM):c.5290del (p.Leu1764fs)	ATM	Pathogenic/Likely pathogenic	11	108172487	108172487	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286887
Indel	NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)	ATM	Pathogenic/Likely pathogenic	11	108180915	108180915	G	CCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA286903
single nucleotide variant	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	ATM	Pathogenic	11	108183151	108183151	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286910
single nucleotide variant	NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	ATM	Pathogenic/Likely pathogenic	11	108186742	108186742	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286916
single nucleotide variant	NM_000051.4(ATM):c.6572+1G>A	ATM	Pathogenic/Likely pathogenic	11	108192148	108192148	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286940
Deletion	NM_000051.4(ATM):c.6976-10_6989del	ATM	Pathogenic/Likely pathogenic	11	108198361	108198384	TTTCTTATACAGAACAATCCCAGCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286953
single nucleotide variant	NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)	ATM	Likely pathogenic	11	108199839	108199839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286966
single nucleotide variant	NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	ATM	Pathogenic/Likely pathogenic	11	108201089	108201089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286987
single nucleotide variant	NM_000051.4(ATM):c.7630-2A>C	ATM	Pathogenic	11	108202604	108202604	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA286993