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.3214G>T (p.Glu1072Ter)	ATM	Pathogenic	11	108143509	108143509	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613125
Deletion	NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)	ATM	Pathogenic	11	108151769	108151773	GAAAAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613131
single nucleotide variant	NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)	ATM	Pathogenic	11	108158369	108158369	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613138
Duplication	NM_000051.4(ATM):c.4522dup (p.Tyr1508fs)	ATM	Pathogenic	11	108163429	108163430	C	CT	criteria provided, single submitter	ClinGen:CA16613145
single nucleotide variant	NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)	ATM	Pathogenic/Likely pathogenic	11	108165783	108165783	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613152
Duplication	NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)	ATM	Pathogenic	11	108213997	108213998	A	ACTGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613162
Indel	NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs)	ATM	Pathogenic	11	108214001	108214002	TC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613164
single nucleotide variant	NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)	ATM	Pathogenic	11	108196122	108196122	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613190
Deletion	NM_000051.4(ATM):c.6729_6730del (p.Glu2245fs)	ATM	Pathogenic	11	108196192	108196193	CAA	C	criteria provided, single submitter	ClinGen:CA16613193
Deletion	NC_000011.10:g.(?_108243953)_(108369099_?)del	ATM	Pathogenic	11	108114680	108239826	na	na	criteria provided, single submitter	-