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.6352del (p.Glu2118fs)	ATM	Pathogenic/Likely pathogenic	11	108190685	108190685	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.6384del (p.Leu2128fs)	ATM	Likely pathogenic	11	108190717	108190717	TG	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.7253_7266del (p.Lys2418fs)	ATM	Likely pathogenic	11	108199911	108199924	AAAAGAGCCAAAGAG	A	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.8076dup (p.Ala2693fs)	ATM	Likely pathogenic	11	108205760	108205761	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)	ATM	Pathogenic	11	108216470	108216470	G	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.8695dup (p.Ile2899fs)	ATM	Pathogenic	11	108224512	108224513	C	CA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29085155	29085155	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085169	29085173	CAGAAG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.1096del (p.Ile366fs)	CHEK2	Pathogenic/Likely pathogenic	22	29091861	29091861	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007194.4(CHEK2):c.836del (p.Lys279fs)	CHEK2	Pathogenic/Likely pathogenic	22	29106004	29106004	CT	C	criteria provided, multiple submitters, no conflicts	-