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
Deletion	NC_000011.9:g.(?_108178618)_(108236241_?)del	ATM	Pathogenic	11	108178618	108236241	na	na	criteria provided, single submitter	-
Deletion	NC_000011.9:g.(?_108098346)_(108138075_?)del	ATM	Pathogenic	11	108098346	108138075	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108235664)_(108235840_?)del	ATM	Likely pathogenic	11	108106391	108106567	na	na	criteria provided, single submitter	-
Deletion	NC_000011.9:g.(?_108206566)_(108206694_?)del	ATM	Likely pathogenic	11	108206566	108206694	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.432del (p.Leu145fs)	ATM	Pathogenic	11	108106497	108106497	TA	T	criteria provided, single submitter	ClinGen:CA658656154
Deletion	NM_000051.4(ATM):c.1017del (p.Ile339fs)	ATM	Pathogenic	11	108117805	108117805	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA602132501
single nucleotide variant	NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)	ATM	Pathogenic	11	108121687	108121687	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534219
single nucleotide variant	NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)	ATM	Pathogenic	11	108121739	108121739	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534329
single nucleotide variant	NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)	ATM	Pathogenic	11	108128265	108128265	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382539851
single nucleotide variant	NM_000051.4(ATM):c.2467-1G>A	ATM	Likely pathogenic	11	108137897	108137897	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382543080