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.8879G>A (p.Trp2960Ter)	ATM	Pathogenic	11	108235837	108235837	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382529659
Duplication	NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)	ATM	Pathogenic	11	108180903	108180904	A	AT	criteria provided, single submitter	ClinGen:CA645369432
single nucleotide variant	NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter)	ATM	Pathogenic/Likely pathogenic	11	108188213	108188213	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382552161
Duplication	NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs)	ATM	Pathogenic	11	108153526	108153526	T	TAA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	ATM	Pathogenic/Likely pathogenic	11	108114835	108114835	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382528550
single nucleotide variant	NM_000051.4(ATM):c.664C>T (p.Gln222Ter)	ATM	Pathogenic/Likely pathogenic	11	108115516	108115516	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382528913
single nucleotide variant	NM_000051.4(ATM):c.1066-2A>T	ATM	Likely pathogenic	11	108119658	108119658	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532304
single nucleotide variant	NM_000051.4(ATM):c.1264A>T (p.Lys422Ter)	ATM	Pathogenic/Likely pathogenic	11	108121456	108121456	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382533357
single nucleotide variant	NM_000051.4(ATM):c.2124+1G>T	ATM	Likely pathogenic	11	108124767	108124767	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382537818
single nucleotide variant	NM_000051.4(ATM):c.3532A>T (p.Lys1178Ter)	ATM	Pathogenic/Likely pathogenic	11	108151851	108151851	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520194