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
single nucleotide variant	NM_000051.4(ATM):c.2639-384A>G	ATM	Pathogenic/Likely pathogenic	11	108138753	108138753	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA601698081
Duplication	NM_000051.4(ATM):c.3038dup (p.Asp1013fs)	ATM	Pathogenic	11	108142093	108142094	G	GA	criteria provided, single submitter	ClinGen:CA645369435
Insertion	NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)	ATM	Pathogenic	11	108143574	108143575	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369500
single nucleotide variant	NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)	ATM	Pathogenic	11	108155072	108155072	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382525312
single nucleotide variant	NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)	ATM	Pathogenic/Likely pathogenic	11	108163416	108163416	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382533561
single nucleotide variant	NM_000051.4(ATM):c.5177+1G>A	ATM	Pathogenic	11	108170613	108170613	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382541263
single nucleotide variant	NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)	ATM	Pathogenic	11	108180895	108180895	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382548290
Indel	NM_000051.4(ATM):c.5791_5793delinsCCTC (p.Ala1931fs)	ATM	Pathogenic	11	108180915	108180917	GCT	CCTC	criteria provided, single submitter	ClinGen:CA645369433
single nucleotide variant	NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)	ATM	Pathogenic/Likely pathogenic	11	108198428	108198428	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382558847
Deletion	NM_000051.4(ATM):c.7262_7263del (p.Lys2421fs)	ATM	Pathogenic	11	108199919	108199920	CAA	C	criteria provided, single submitter	ClinGen:CA645369502