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.8269-1G>C	ATM	Pathogenic/Likely pathogenic	11	108213948	108213948	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4612-3_4616del	ATM	Pathogenic/Likely pathogenic	11	108164033	108164040	ATATTTAGG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.6273del (p.Trp2091fs)	ATM	Pathogenic/Likely pathogenic	11	108188173	108188173	TG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	ATM	Pathogenic/Likely pathogenic	11	108216476	108216476	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.6082del (p.Gln2028fs)	ATM	Pathogenic/Likely pathogenic	11	108186625	108186625	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	ATM	Pathogenic/Likely pathogenic	11	108119704	108119704	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)	ATM	Pathogenic/Likely pathogenic	11	108235869	108235869	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7629+1G>A	ATM	Pathogenic/Likely pathogenic	11	108202285	108202285	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4909+1G>T	ATM	Pathogenic/Likely pathogenic	11	108165787	108165787	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.2250+1G>A	ATM	Pathogenic/Likely pathogenic	11	108127068	108127068	G	A	criteria provided, multiple submitters, no conflicts	-