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.1284_1291del (p.Asn429fs)	ATM	Pathogenic	11	108121476	108121483	CTAACTGTG	C	criteria provided, single submitter	ClinGen:CA338956
Deletion	NM_000051.4(ATM):c.2113del (p.Tyr705fs)	ATM	Pathogenic	11	108124754	108124754	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338409
single nucleotide variant	NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	ATM	Pathogenic	11	108129749	108129749	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338870
Duplication	NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)	ATM	Pathogenic	11	108196214	108196215	T	TCTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA338094
single nucleotide variant	NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)	ATM	Pathogenic	11	108199898	108199898	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339145
single nucleotide variant	NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)	ATM	Pathogenic/Likely pathogenic	11	108204670	108204670	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA339537
Deletion	NM_000051.3(ATM):c.3403-?_*(1_?)del	ATM	Pathogenic	11	108151722	108236236	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.185+1G>A	ATM	Likely pathogenic	11	108098616	108098616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349320
single nucleotide variant	NM_000051.4(ATM):c.785T>A (p.Leu262Ter)	ATM	Pathogenic/Likely pathogenic	11	108115637	108115637	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350365
Deletion	NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)	ATM	Pathogenic	11	108115674	108115674	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA349767