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	NM_000051.4(ATM):c.4052del (p.Leu1351fs)	ATM	Pathogenic	11	108158384	108158384	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA192548
single nucleotide variant	NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	ATM	Pathogenic	11	108165729	108165729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA197013
single nucleotide variant	NM_000051.4(ATM):c.5497-2A>G	ATM	Pathogenic/Likely pathogenic	11	108175400	108175400	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA197864
Deletion	NM_000051.4(ATM):c.5765del (p.Pro1922fs)	ATM	Pathogenic	11	108180888	108180888	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA194287
single nucleotide variant	NM_000051.4(ATM):c.6006+1G>A	ATM	Pathogenic/Likely pathogenic	11	108183226	108183226	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA191382
Deletion	NM_000051.4(ATM):c.6228del (p.Leu2077fs)	ATM	Pathogenic	11	108188128	108188128	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA195069
Deletion	NM_000051.4(ATM):c.6433_6445del (p.Glu2145fs)	ATM	Pathogenic	11	108190764	108190776	TATGAAAGTCTCAA	T	criteria provided, single submitter	ClinGen:CA192250
Duplication	NM_000051.4(ATM):c.6436dup (p.Ser2146fs)	ATM	Pathogenic	11	108190766	108190767	G	GA	criteria provided, single submitter	ClinGen:CA192448
Deletion	NM_000051.4(ATM):c.7465_7466del (p.Ser2489fs)	ATM	Pathogenic	11	108201098	108201099	TTC	T	criteria provided, single submitter	ClinGen:CA197654
single nucleotide variant	NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)	ATM	Pathogenic/Likely pathogenic	11	108202225	108202225	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA198094