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
Indel	NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)	ATM	Pathogenic	11	108202641	108202641	C	GTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656297
Deletion	NM_000051.4(ATM):c.72+2del	ATM	Likely pathogenic	11	108098425	108098425	GT	G	criteria provided, single submitter	ClinGen:CA658656134
single nucleotide variant	NM_000051.4(ATM):c.331+2T>G	ATM	Pathogenic	11	108100052	108100052	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382521846
single nucleotide variant	NM_000051.4(ATM):c.8011-1G>T	ATM	Pathogenic	11	108205695	108205695	G	T	criteria provided, single submitter	ClinGen:CA382561832
Duplication	NM_000051.4(ATM):c.492dup (p.Leu165fs)	ATM	Pathogenic	11	108106555	108106556	T	TG	criteria provided, single submitter	ClinGen:CA658656164
single nucleotide variant	NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)	ATM	Pathogenic/Likely pathogenic	11	108119687	108119687	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532369
Deletion	NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)	ATM	Pathogenic	11	108119733	108119734	TAC	T	criteria provided, single submitter	ClinGen:CA658656212
Insertion	NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs)	ATM	Pathogenic	11	108236114	108236115	T	TTTCA	criteria provided, single submitter	ClinGen:CA658656281
single nucleotide variant	NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)	ATM	Pathogenic	11	108235861	108235861	T	A	criteria provided, single submitter	ClinGen:CA382529828
single nucleotide variant	NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)	ATM	Pathogenic	11	108128229	108128229	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382539621