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_000022.4(ADA):c.219-1G>A	ADA	Likely pathogenic	20	43255241	43255241	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000022.4(ADA):c.478+6T>C	ADA	Likely pathogenic	20	43254204	43254204	A	G	criteria provided, single submitter	ClinVar:624582
single nucleotide variant	NM_000022.4(ADA):c.44A>T (p.His15Leu)	ADA	Likely pathogenic	20	43264919	43264919	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000022.4(ADA):c.479-2del	ADA	Likely pathogenic	20	43252972	43252972	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)	ATM	Likely pathogenic	11	108199839	108199839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA286966
single nucleotide variant	NM_000051.4(ATM):c.6095+1G>A	ATM	Likely pathogenic	11	108186639	108186639	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA164796
single nucleotide variant	NM_000051.4(ATM):c.3994-2A>G	ATM	Likely pathogenic	11	108158325	108158325	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167657
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
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.3137T>C (p.Leu1046Pro)	ATM	Likely pathogenic	11	108143318	108143318	T	C	reviewed by expert panel	ClinGen:CA195169,UniProtKB:Q13315#VAR_077237