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
Duplication	NM_000051.4(ATM):c.2524dup (p.Thr842fs)	ATM	Pathogenic	11	108137954	108137955	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656232
single nucleotide variant	NM_000051.4(ATM):c.2466+1G>A	ATM	Pathogenic/Likely pathogenic	11	108129803	108129803	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228399971
Duplication	NM_000051.4(ATM):c.2700dup (p.Leu901fs)	ATM	Pathogenic	11	108139197	108139198	T	TG	criteria provided, single submitter	ClinGen:CA658656253
Deletion	NM_000051.4(ATM):c.2521del (p.Asp841fs)	ATM	Pathogenic	11	108137952	108137952	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16622059
single nucleotide variant	NM_000051.4(ATM):c.2654T>G (p.Leu885Ter)	ATM	Pathogenic	11	108139152	108139152	T	G	criteria provided, single submitter	ClinGen:CA382545038
single nucleotide variant	NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)	ATM	Pathogenic	11	108150315	108150315	C	T	criteria provided, single submitter	ClinGen:CA382517750
Duplication	NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)	ATM	Pathogenic	11	108151794	108151795	G	GCTGTGGTTTTATC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656206
Deletion	NM_000051.4(ATM):c.3577-9_3583del	ATM	Pathogenic	11	108153427	108153442	GGTTCGTGCAGGTTTTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656220
Deletion	NM_000051.4(ATM):c.4056_4065del (p.His1352fs)	ATM	Pathogenic	11	108158387	108158396	ACATGAGCCAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656280
Duplication	NM_000051.4(ATM):c.5405dup (p.His1802fs)	ATM	Pathogenic	11	108173664	108173665	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656255