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.9045_9052dup (p.Lys3018delinsArgAsnTer)	ATM	Pathogenic	11	108236106	108236107	A	AGAGAAACT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619271
Duplication	NM_000051.4(ATM):c.741dup (p.Arg248fs)	ATM	Pathogenic	11	108115590	108115591	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369495
single nucleotide variant	NM_000051.4(ATM):c.850C>T (p.Gln284Ter)	ATM	Pathogenic	11	108115702	108115702	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264685
Duplication	NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)	ATM	Pathogenic	11	108121787	108121788	G	GCAGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369496
Deletion	NM_000051.4(ATM):c.2119_2123del (p.Ser707fs)	ATM	Pathogenic	11	108124760	108124764	CATCTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372904
Duplication	NM_000051.4(ATM):c.2494dup (p.Arg832fs)	ATM	Pathogenic	11	108137923	108137924	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369434
Deletion	NM_000051.4(ATM):c.2572_2575del (p.Phe858fs)	ATM	Pathogenic	11	108138001	108138004	CTATT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369498
Deletion	NM_000051.4(ATM):c.2638+1del	ATM	Likely pathogenic	11	108138069	108138069	AG	A	criteria provided, single submitter	ClinGen:CA645369499
single nucleotide variant	NM_000051.4(ATM):c.2639-384A>G	ATM	Pathogenic/Likely pathogenic	11	108138753	108138753	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA601698081
Duplication	NM_000051.4(ATM):c.3038dup (p.Asp1013fs)	ATM	Pathogenic	11	108142093	108142094	G	GA	criteria provided, single submitter	ClinGen:CA645369435