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.1368dup (p.Arg457fs)	ATM	Pathogenic	11	108121559	108121560	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.1608-1G>A	ATM	Likely pathogenic	11	108122563	108122563	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1608-1G>C	ATM	Likely pathogenic	11	108122563	108122563	G	C	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.2938del (p.Tyr980fs)	ATM	Pathogenic	11	108141994	108141994	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3261del (p.Met1087fs)	ATM	Pathogenic	11	108143556	108143556	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3281del (p.Asn1094fs)	ATM	Pathogenic	11	108143575	108143575	CA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)	ATM	Pathogenic	11	108151755	108151755	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.4988del (p.Gly1663fs)	ATM	Pathogenic	11	108168091	108168091	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)	ATM	Pathogenic	11	108188212	108188212	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.6975+1G>T	ATM	Likely pathogenic	11	108196953	108196953	G	T	criteria provided, multiple submitters, no conflicts	-