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
Deletion	NM_000051.4(ATM):c.1446del (p.Lys482fs)	ATM	Pathogenic	11	108121635	108121635	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612986
single nucleotide variant	NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)	ATM	Pathogenic	11	108124581	108124581	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613019
Deletion	NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)	ATM	Pathogenic	11	108143535	108143538	ACAAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613033
Deletion	NC_000011.10:g.(?_108289602)_(108289801_?)del	ATM	Pathogenic	11	108160329	108160528	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_108292619)_(108299885_?)del	ATM	Likely pathogenic	11	108163346	108170612	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)	ATM	Pathogenic/Likely pathogenic	11	108160410	108160410	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613046
Indel	NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)	ATM	Pathogenic	11	108160422	108160425	CTGT	TAAAATAAA	criteria provided, single submitter	ClinGen:CA16613051
single nucleotide variant	NM_000051.4(ATM):c.662+1G>A	ATM	Likely pathogenic	11	108114846	108114846	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613056
Deletion	NM_000051.4(ATM):c.992del (p.Lys331fs)	ATM	Pathogenic	11	108117779	108117779	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613058
Deletion	NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)	ATM	Pathogenic	11	108165674	108165677	CAGTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613061