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.1003G>T (p.Gly335Ter)	ATM	Pathogenic/Likely pathogenic	11	108117792	108117792	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382531372
single nucleotide variant	NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)	ATM	Pathogenic	11	108119772	108119772	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532540
Deletion	NM_000051.4(ATM):c.1464del (p.Trp488fs)	ATM	Pathogenic	11	108121655	108121655	TG	T	criteria provided, single submitter	ClinGen:CA658656146
single nucleotide variant	NM_000051.4(ATM):c.73-1G>A	ATM	Pathogenic/Likely pathogenic	11	108098502	108098502	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382519448
Duplication	NM_000051.4(ATM):c.2749dup (p.Ser917fs)	ATM	Pathogenic	11	108139246	108139247	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656142
single nucleotide variant	NM_000051.4(ATM):c.2838+1G>T	ATM	Likely pathogenic	11	108139337	108139337	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382545873
single nucleotide variant	NM_000051.4(ATM):c.186-1G>A	ATM	Likely pathogenic	11	108099904	108099904	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520987
Deletion	NM_000051.4(ATM):c.3419del (p.Asn1140fs)	ATM	Pathogenic	11	108151737	108151737	GA	G	criteria provided, single submitter	ClinGen:CA658656198
Deletion	NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)	ATM	Pathogenic	11	108151857	108151857	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656214
single nucleotide variant	NM_000051.4(ATM):c.392C>A (p.Ser131Ter)	ATM	Pathogenic	11	108106457	108106457	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382524896