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.1314dup (p.Leu439fs)	ATM	Pathogenic	11	108121505	108121506	T	TA	criteria provided, single submitter	ClinGen:CA658683697
single nucleotide variant	NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)	ATM	Likely pathogenic	11	108151895	108151895	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520816
Deletion	NM_000051.4(ATM):c.5853del (p.Phe1952fs)	ATM	Pathogenic	11	108180977	108180977	AC	A	criteria provided, single submitter	ClinGen:CA658683696
Deletion	NM_000051.4(ATM):c.5758_5759del (p.Lys1920fs)	ATM	Pathogenic	11	108178705	108178706	CAA	C	criteria provided, single submitter	ClinGen:CA658683128
single nucleotide variant	NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)	ATM	Pathogenic	11	108196079	108196079	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382554733
Deletion	NM_000051.4(ATM):c.6237_6238del (p.Tyr2080fs)	ATM	Pathogenic	11	108188137	108188138	GTC	G	criteria provided, single submitter	ClinGen:CA658683713
single nucleotide variant	NM_000051.4(ATM):c.2922-1G>T	ATM	Likely pathogenic	11	108141977	108141977	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382547064
Deletion	NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)	ATM	Pathogenic	11	108117846	108117847	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645597675
single nucleotide variant	NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)	ATM	Pathogenic	11	108202753	108202753	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266176
single nucleotide variant	NM_000051.4(ATM):c.1899-1G>A	ATM	Pathogenic/Likely pathogenic	11	108124540	108124540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382536246