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.5102_5106del (p.Lys1701fs)	ATM	Pathogenic/Likely pathogenic	11	108170534	108170538	CTTAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656233
Deletion	NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)	ATM	Pathogenic	11	108178666	108178667	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656268
single nucleotide variant	NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)	ATM	Pathogenic	11	108183163	108183163	C	T	criteria provided, single submitter	ClinGen:CA382548683
single nucleotide variant	NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)	ATM	Pathogenic/Likely pathogenic	11	108200944	108200944	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228418043
single nucleotide variant	NM_000051.4(ATM):c.8671+1G>T	ATM	Likely pathogenic	11	108218093	108218093	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382521374
single nucleotide variant	NM_000051.4(ATM):c.73-3C>G	ATM	Pathogenic/Likely pathogenic	11	108098500	108098500	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656135
single nucleotide variant	NM_000051.4(ATM):c.362T>A (p.Leu121Ter)	ATM	Pathogenic	11	108106427	108106427	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264593
Deletion	NM_000051.4(ATM):c.964_968del (p.Glu322fs)	ATM	Pathogenic	11	108117751	108117755	AATGAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656195
Duplication	NM_000051.4(ATM):c.441dup (p.Asp148fs)	ATM	Pathogenic	11	108106503	108106504	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656155
Duplication	NM_000051.4(ATM):c.442dup (p.Asp148fs)	ATM	Pathogenic	11	108106506	108106507	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656156