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.5441dup (p.Leu1814fs)	ATM	Pathogenic	11	108173695	108173696	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656256
Duplication	NM_000051.4(ATM):c.1467dup (p.Ile490fs)	ATM	Pathogenic	11	108121658	108121659	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656147
single nucleotide variant	NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)	ATM	Pathogenic	11	108121729	108121729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA228391108
single nucleotide variant	NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)	ATM	Pathogenic	11	108142099	108142099	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382547577
single nucleotide variant	NM_000051.4(ATM):c.3340A>T (p.Lys1114Ter)	ATM	Pathogenic	11	108150273	108150273	A	T	criteria provided, single submitter	ClinGen:CA382517596
Deletion	NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)	ATM	Pathogenic	11	108124560	108124563	TAAAG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656178
single nucleotide variant	NM_000051.4(ATM):c.3451A>T (p.Lys1151Ter)	ATM	Pathogenic	11	108151770	108151770	A	T	criteria provided, single submitter	ClinGen:CA382519325
Indel	NM_000051.4(ATM):c.6270delinsTT (p.Trp2091fs)	ATM	Pathogenic	11	108188171	108188171	C	TT	criteria provided, single submitter	ClinGen:CA658656207
single nucleotide variant	NM_000051.4(ATM):c.3576+1G>T	ATM	Likely pathogenic	11	108151896	108151896	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520835
Duplication	NM_000051.4(ATM):c.7026dup (p.Asn2343fs)	ATM	Pathogenic	11	108198421	108198422	G	GC	criteria provided, single submitter	ClinGen:CA658656286