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.5249G>A (p.Trp1750Ter)	ATM	Pathogenic	11	108172446	108172446	G	A	criteria provided, single submitter	ClinGen:CA16613066
Deletion	NM_000051.4(ATM):c.1333del (p.Gln445fs)	ATM	Pathogenic	11	108121522	108121522	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613069
Deletion	NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)	ATM	Pathogenic	11	108121705	108121706	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613075
Deletion	NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)	ATM	Pathogenic	11	108180993	108180994	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613082
single nucleotide variant	NM_000051.4(ATM):c.6199-2A>T	ATM	Pathogenic	11	108188098	108188098	A	T	criteria provided, single submitter	ClinGen:CA16613095
single nucleotide variant	NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)	ATM	Pathogenic	11	108188173	108188173	G	A	criteria provided, single submitter	ClinGen:CA16613098
single nucleotide variant	NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)	ATM	Pathogenic	11	108137985	108137985	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265059
Deletion	NM_000051.4(ATM):c.2775del (p.Lys926fs)	ATM	Pathogenic	11	108139272	108139272	AG	A	criteria provided, single submitter	ClinGen:CA16613110
Deletion	NM_000051.4(ATM):c.2922-50_2940del	ATM	Pathogenic/Likely pathogenic	11	108141926	108141994	GATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613114
Deletion	NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)	ATM	Pathogenic	11	108142040	108142043	CTTCA	C	criteria provided, single submitter	ClinGen:CA16613118