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.4885dup (p.Val1629fs)	ATM	Pathogenic	11	108165760	108165761	T	TG	criteria provided, single submitter	ClinGen:CA658656208
single nucleotide variant	NM_000051.4(ATM):c.4909+1G>A	ATM	Pathogenic	11	108165787	108165787	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265571
Deletion	NM_000051.4(ATM):c.7858del (p.Val2620fs)	ATM	Pathogenic/Likely pathogenic	11	108203558	108203558	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656302
single nucleotide variant	NM_000051.4(ATM):c.5319+2T>C	ATM	Pathogenic/Likely pathogenic	11	108172518	108172518	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382542858
single nucleotide variant	NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)	ATM	Pathogenic/Likely pathogenic	11	108173586	108173586	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382543040
single nucleotide variant	NM_000051.4(ATM):c.8011-1G>C	ATM	Likely pathogenic	11	108205695	108205695	G	C	criteria provided, single submitter	ClinGen:CA382561831
Duplication	NM_000051.4(ATM):c.5402dup (p.Asn1801fs)	ATM	Pathogenic	11	108173658	108173659	G	GA	criteria provided, single submitter	ClinGen:CA658656254
Deletion	NM_001330368.2(C11orf65):c.641-34150del	ATM	Pathogenic	11	108213948	108213948	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656235
Deletion	NM_000051.4(ATM):c.6133del (p.Ala2045fs)	ATM	Pathogenic	11	108186775	108186775	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656190
Duplication	NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)	ATM	Pathogenic	11	108235882	108235883	A	AAGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656277