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
single nucleotide variant	NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	ATM	Pathogenic/Likely pathogenic	11	108143283	108143283	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4007del (p.Phe1336fs)	ATM	Pathogenic/Likely pathogenic	11	108158339	108158339	AT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001330368.2(C11orf65):c.641-6751dup	ATM	Pathogenic/Likely pathogenic	11	108186548	108186549	A	AG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)	ATM	Pathogenic/Likely pathogenic	11	108199799	108199809	AAATGGAAAAAT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7708G>T (p.Glu2570Ter)	ATM	Pathogenic/Likely pathogenic	11	108202684	108202684	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.3146dup (p.Leu1049fs)	ATM	Likely pathogenic	11	108143324	108143325	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6452+1G>T	ATM	Pathogenic	11	108190786	108190786	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)	ATM	Pathogenic	11	108160524	108160524	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000011.10:g.(?_108246954)_(108247137_?)del	ATM	Pathogenic	11	108117681	108117864	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108327635)_(108331567_?)del	ATM	Pathogenic	11	108198362	108202294	na	na	criteria provided, single submitter	-