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
Insertion	NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)	ATM	Pathogenic/Likely pathogenic	11	108124557	108124558	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613347
Deletion	NM_000051.4(ATM):c.2125-15_2128del	ATM	Likely pathogenic	11	108126927	108126945	TGTGGTTTACTTTAAGATTA	T	criteria provided, single submitter	ClinGen:CA16613363
Indel	NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)	ATM	Pathogenic	11	108139152	108139154	TAG	AA	criteria provided, single submitter	ClinGen:CA16613374
Deletion	NM_000051.4(ATM):c.3206del (p.Pro1069fs)	ATM	Pathogenic	11	108143500	108143500	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613398
single nucleotide variant	NM_000051.4(ATM):c.3284+1G>C	ATM	Likely pathogenic	11	108143580	108143580	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613402
single nucleotide variant	NM_000051.4(ATM):c.4110-1G>A	ATM	Pathogenic/Likely pathogenic	11	108159703	108159703	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613418
single nucleotide variant	NM_000051.4(ATM):c.4910-1G>T	ATM	Likely pathogenic	11	108168013	108168013	G	T	criteria provided, single submitter	ClinGen:CA16613425
Deletion	NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)	ATM	Pathogenic/Likely pathogenic	11	108202673	108202676	GCAAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613433
single nucleotide variant	NM_000051.4(ATM):c.8585-2A>C	ATM	Pathogenic	11	108218004	108218004	A	C	reviewed by expert panel	ClinGen:CA16613454
Deletion	NM_000051.4(ATM):c.8786_8786+3del	ATM	Likely pathogenic	11	108224606	108224609	AAGGT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613455