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
single nucleotide variant	NM_000051.4(ATM):c.3747-1G>A	ATM	Likely pathogenic	11	108154953	108154953	G	A	criteria provided, single submitter	ClinGen:CA16044129
single nucleotide variant	NM_000051.4(ATM):c.6348-2A>G	ATM	Likely pathogenic	11	108190679	108190679	A	G	criteria provided, single submitter	ClinGen:CA348351
single nucleotide variant	NM_000051.4(ATM):c.3994-159A>G	ATM	Likely pathogenic	11	108158168	108158168	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349592
single nucleotide variant	NM_000051.4(ATM):c.3284+1G>A	ATM	Likely pathogenic	11	108143580	108143580	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350813
single nucleotide variant	NM_000051.4(ATM):c.3077+1G>A	ATM	Likely pathogenic	11	108142134	108142134	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350862
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.8711A>G (p.Glu2904Gly)	ATM	Likely pathogenic	11	108224532	108224532	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA194327,UniProtKB:Q13315#VAR_010889
single nucleotide variant	NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	ATM	Likely pathogenic	11	108143318	108143318	T	C	reviewed by expert panel	ClinGen:CA195169,UniProtKB:Q13315#VAR_077237
single nucleotide variant	NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	ATM	Likely pathogenic	11	108141801	108141801	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195209,UniProtKB:Q13315#VAR_010815
single nucleotide variant	NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	ATM	Likely pathogenic	11	108155055	108155055	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA298351