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_007194.4(CHEK2):c.432dup (p.Arg145fs)	CHEK2	Pathogenic/Likely pathogenic	22	29121242	29121243	G	GA	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	-
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.1492_1496del (p.Leu498fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085169	29085173	CAGAAG	C	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_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.5745del (p.Asp1914_Tyr1915insTer)	ATM	Pathogenic/Likely pathogenic	11	108178694	108178694	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)	ATM	Pathogenic/Likely pathogenic	11	108175425	108175426	CTG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3996del (p.Ile1332fs)	ATM	Pathogenic/Likely pathogenic	11	108158328	108158328	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1367del (p.Leu456fs)	ATM	Pathogenic/Likely pathogenic	11	108121558	108121558	GT	G	criteria provided, multiple submitters, no conflicts	-