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
Deletion	NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)	ATM	Pathogenic/Likely pathogenic	11	108175414	108175415	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656259
single nucleotide variant	NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)	ATM	Pathogenic	11	108183190	108183190	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548737
single nucleotide variant	NM_000051.4(ATM):c.6198+2T>C	ATM	Pathogenic	11	108186842	108186842	T	C	criteria provided, single submitter	ClinGen:CA382550826
Deletion	NC_000011.10:g.(?_108365076)_(108365514_?)del	ATM	Pathogenic	11	108235803	108236241	na	na	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.6404dup (p.Arg2136fs)	ATM	Pathogenic	11	108190736	108190737	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656227
Deletion	NM_000051.4(ATM):c.6399del (p.Gln2133fs)	ATM	Pathogenic	11	108190731	108190731	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656225
single nucleotide variant	NM_000051.4(ATM):c.6573-2A>G	ATM	Likely pathogenic	11	108196035	108196035	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265987
Deletion	NM_000051.4(ATM):c.6839del (p.Gln2280fs)	ATM	Pathogenic	11	108196816	108196816	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656273
Deletion	NM_000051.4(ATM):c.6910del (p.Glu2304fs)	ATM	Pathogenic	11	108196886	108196886	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656278
single nucleotide variant	NM_000051.4(ATM):c.7308-2A>C	ATM	Likely pathogenic	11	108200939	108200939	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382559855