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	NC_000011.10:g.(?_108365072)_(108365518_?)del	ATM	Pathogenic	11	108235799	108236245	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.497-1G>C	ATM	Likely pathogenic	11	108114679	108114679	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.947_951del (p.Tyr316fs)	ATM	Pathogenic	11	108117734	108117738	TATATG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.2250+1G>A	ATM	Pathogenic/Likely pathogenic	11	108127068	108127068	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.2270del (p.Gly757fs)	ATM	Pathogenic	11	108128226	108128226	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)	ATM	Pathogenic	11	108143462	108143462	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4611+1G>A	ATM	Likely pathogenic	11	108163521	108163521	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4909+1G>T	ATM	Pathogenic/Likely pathogenic	11	108165787	108165787	G	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)	ATM	Pathogenic	11	108196791	108196791	G	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.7629+1G>A	ATM	Pathogenic/Likely pathogenic	11	108202285	108202285	G	A	criteria provided, multiple submitters, no conflicts	-