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
Deletion	NM_000051.4(ATM):c.6199-2del	ATM	Likely pathogenic	11	108188098	108188098	TA	T	criteria provided, single submitter	ClinGen:CA658797731
single nucleotide variant	NM_000051.4(ATM):c.6453-1G>C	ATM	Likely pathogenic	11	108192027	108192027	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382553804
single nucleotide variant	NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter)	ATM	Pathogenic	11	108198476	108198476	T	G	criteria provided, single submitter	ClinGen:CA382559168
single nucleotide variant	NM_000051.4(ATM):c.7927+1G>C	ATM	Likely pathogenic	11	108203628	108203628	G	C	criteria provided, single submitter	ClinGen:CA382561532
Deletion	NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)	ATM	Pathogenic	11	108206643	108206644	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA601727583
single nucleotide variant	NM_000051.4(ATM):c.8419-2A>G	ATM	Likely pathogenic	11	108216468	108216468	A	G	criteria provided, single submitter	ClinGen:CA382517699
single nucleotide variant	NM_000051.4(ATM):c.8786+2T>A	ATM	Pathogenic	11	108224609	108224609	T	A	criteria provided, single submitter	ClinGen:CA382524492
Deletion	NM_007194.4(CHEK2):c.1443_1444del (p.Arg482fs)	CHEK2	Pathogenic	22	29090037	29090038	CTT	C	criteria provided, single submitter	ClinGen:CA658799505
Deletion	NM_007194.4(CHEK2):c.1063del (p.Leu355fs)	CHEK2	Pathogenic	22	29092921	29092921	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799507
Deletion	NC_000022.11:g.(?_28699832)_(28699943_?)del	CHEK2	Pathogenic	22	29095820	29095931	na	na	criteria provided, single submitter	-