原発性免疫不全症候群

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1442T>G (p.Leu481Ter)	ATM	Pathogenic	11	108121634	108121634	T	G	reviewed by expert panel	ClinGen:CA382534080
Deletion	NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer)	ATM	Pathogenic	11	108123578	108123581	TGTGA	T	criteria provided, single submitter	ClinGen:CA658656174
single nucleotide variant	NM_000051.4(ATM):c.1898+1G>T	ATM	Pathogenic/Likely pathogenic	11	108123640	108123640	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382536128
single nucleotide variant	NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)	ATM	Pathogenic	11	108127010	108127010	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382538927
Deletion	NM_000051.4(ATM):c.2922-50_2938del	ATM	Pathogenic	11	108141927	108141993	ATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTG	A	criteria provided, single submitter	ClinGen:CA658656157
Deletion	NM_000051.4(ATM):c.3627del (p.Phe1209fs)	ATM	Pathogenic	11	108153485	108153485	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA169922
single nucleotide variant	NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)	ATM	Pathogenic	11	108153533	108153533	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382523231
Deletion	NM_000051.4(ATM):c.3747-3_3751del	ATM	Likely pathogenic	11	108154949	108154956	TTTTAGATC	T	criteria provided, single submitter	ClinGen:CA658656246
Deletion	NM_000051.4(ATM):c.4087del (p.Thr1363fs)	ATM	Pathogenic	11	108158420	108158420	CA	C	criteria provided, single submitter	ClinGen:CA658656282
single nucleotide variant	NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)	ATM	Pathogenic	11	108163518	108163518	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534097