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_001330368.2(C11orf65):c.641-34150del	ATM	Pathogenic	11	108213948	108213948	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656235
Deletion	NM_000051.4(ATM):c.6133del (p.Ala2045fs)	ATM	Pathogenic	11	108186775	108186775	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656190
Duplication	NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)	ATM	Pathogenic	11	108235882	108235883	A	AAGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656277
single nucleotide variant	NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)	ATM	Pathogenic/Likely pathogenic	11	108188190	108188190	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382552045
Deletion	NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)	ATM	Pathogenic	11	108190702	108190703	GTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656219
Duplication	NM_000051.4(ATM):c.6748dup (p.Ile2250fs)	ATM	Pathogenic	11	108196211	108196212	C	CA	criteria provided, single submitter	ClinGen:CA658656266
Deletion	NM_000051.4(ATM):c.7044_7047del (p.Thr2348_Cys2349insTer)	ATM	Pathogenic	11	108198439	108198442	ACGTG	A	criteria provided, single submitter	ClinGen:CA658656287
single nucleotide variant	NM_000051.4(ATM):c.7089+1G>A	ATM	Likely pathogenic	11	108198486	108198486	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228414402
single nucleotide variant	NM_000051.4(ATM):c.7308-1G>C	ATM	Likely pathogenic	11	108200940	108200940	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382559857
single nucleotide variant	NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)	CHEK2	Pathogenic	22	29090046	29090046	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411094167