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.7194C>A (p.Tyr2398Ter)	ATM	Pathogenic	11	108199852	108199852	C	A	criteria provided, single submitter	-
Insertion	NM_000051.4(ATM):c.7261_7262insT (p.Lys2421fs)	ATM	Pathogenic	11	108199919	108199920	A	AT	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)	ATM	Pathogenic	11	108199925	108199928	GAAG	TAC	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.7510dup (p.Met2504fs)	ATM	Pathogenic	11	108201142	108201143	G	GA	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.7549_7562delinsATG (p.Leu2517fs)	ATM	Pathogenic	11	108202204	108202217	TTGCCTCTTATGTA	ATG	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7631del (p.Leu2544fs)	ATM	Pathogenic	11	108202607	108202607	CT	C	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)	ATM	Pathogenic	11	108202739	108202740	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.7792del (p.Arg2598fs)	ATM	Pathogenic	11	108203492	108203492	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)	ATM	Pathogenic	11	108203589	108203589	T	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7978del (p.Glu2660fs)	ATM	Pathogenic	11	108204663	108204663	AG	A	criteria provided, single submitter	-