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.8249dup (p.Leu2750fs)	ATM	Pathogenic	11	108206667	108206668	A	AT	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108243943)_(108365518_?)del	ATM	Pathogenic	11	108114670	108236245	na	na	criteria provided, single submitter	-
Duplication	NC_000011.9:g.(?_108137888)_(108225611_?)dup	ATM	Pathogenic	11	108137888	108225611	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.496G>T (p.Glu166Ter)	ATM	Pathogenic	11	108106561	108106561	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.680C>G (p.Ser227Ter)	ATM	Pathogenic	11	108115532	108115532	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1036del (p.Ile346fs)	ATM	Pathogenic	11	108117825	108117825	GA	G	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.1045_1052del (p.Met349fs)	ATM	Pathogenic	11	108117834	108117841	GATGGCAGA	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)	ATM	Pathogenic	11	108121739	108121739	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)	ATM	Pathogenic	11	108121765	108121765	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)	ATM	Pathogenic	11	108128258	108128261	CAAAT	C	criteria provided, multiple submitters, no conflicts	-