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_000011.10:g.(?_108297287)_(108335961_?)del	ATM	Pathogenic	11	108168014	108206688	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108325310)_(108369099_?)del	ATM	Pathogenic	11	108196037	108239826	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108327645)_(108331557_?)del	ATM	Likely pathogenic	11	108198372	108202284	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)	ATM	Pathogenic	11	108235838	108235838	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613231
Deletion	NM_000051.4(ATM):c.1783_1802+91del	ATM	Likely pathogenic	11	108122738	108122848	AAGTGCCTCCAATTCTTCACAGGTAATTTAAGTTCATTAGCATGCTGCTGTTTTTTTTGTTTGTTTTATCAGGCTCTCTCCACTTATTTGATGCCAGATGGCTTTATTTTAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613267
Deletion	NC_000011.10:g.(?_108280995)_(108289801_?)del	ATM	Pathogenic	11	108151722	108160528	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108343222)_(108369099_?)del	ATM	Pathogenic	11	108213949	108239826	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.710del (p.Thr237fs)	ATM	Pathogenic	11	108115562	108115562	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613298
single nucleotide variant	NM_000051.4(ATM):c.2839-2A>G	ATM	Pathogenic/Likely pathogenic	11	108141789	108141789	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613314
single nucleotide variant	NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)	ATM	Pathogenic	11	108150253	108150253	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613322