遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

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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.6867dup (p.Glu2290Ter)	ATM	Pathogenic	11	108196843	108196844	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656276
Duplication	NM_000051.4(ATM):c.6908dup (p.Glu2304fs)	ATM	Pathogenic	11	108196879	108196880	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266030
Deletion	NC_000011.9:g.(?_108098171)_(108124564_?)del	ATM	Pathogenic	11	108098171	108124564	na	na	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.311del (p.Phe104fs)	ATM	Pathogenic	11	108100029	108100029	CT	C	criteria provided, single submitter	ClinGen:CA658656145
single nucleotide variant	NM_000051.4(ATM):c.557T>G (p.Leu186Ter)	ATM	Pathogenic	11	108114740	108114740	T	G	criteria provided, single submitter	ClinGen:CA382527749
single nucleotide variant	NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)	ATM	Pathogenic	11	108121634	108121634	T	G	reviewed by expert panel	ClinGen:CA382534080
Deletion	NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer)	ATM	Pathogenic	11	108123578	108123581	TGTGA	T	criteria provided, single submitter	ClinGen:CA658656174
single nucleotide variant	NM_000051.4(ATM):c.1898+1G>T	ATM	Pathogenic/Likely pathogenic	11	108123640	108123640	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382536128
single nucleotide variant	NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)	ATM	Pathogenic	11	108127010	108127010	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382538927
Deletion	NM_000051.4(ATM):c.2922-50_2938del	ATM	Pathogenic	11	108141927	108141993	ATGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTG	A	criteria provided, single submitter	ClinGen:CA658656157