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.496+5G>A	ATM	Pathogenic/Likely pathogenic	11	108106566	108106566	G	A	criteria provided, multiple submitters, no conflicts	OMIM:607585.0031,ClinGen:CA115952
single nucleotide variant	NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	ATM	Pathogenic/Likely pathogenic	11	108188101	108188101	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA130514,UniProtKB:Q13315#VAR_010840,OMIM:607585.0033
single nucleotide variant	NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)	ATM	Pathogenic/Likely pathogenic	11	108119829	108119829	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286720
single nucleotide variant	NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	ATM	Pathogenic/Likely pathogenic	11	108121531	108121531	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA274271
single nucleotide variant	NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	ATM	Pathogenic	11	108098600	108098600	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286735
Duplication	NM_000051.4(ATM):c.2502dup (p.Val835fs)	ATM	Pathogenic	11	108137931	108137932	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA286759
single nucleotide variant	NM_000051.4(ATM):c.2638+2T>C	ATM	Pathogenic/Likely pathogenic	11	108138071	108138071	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA286775
single nucleotide variant	NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	ATM	Pathogenic/Likely pathogenic	11	108150305	108150305	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274336
Deletion	NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	ATM	Pathogenic	11	108155008	108155008	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286815
single nucleotide variant	NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)	ATM	Pathogenic	11	108155043	108155043	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA286819