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
Indel	NM_000051.4(ATM):c.1487_1495delinsTTTCTGAGT (p.Ser496_Gln499delinsIleSerGluTer)	ATM	Likely pathogenic	11	108121679	108121687	GTTCTGAGC	TTTCTGAGT	criteria provided, single submitter	ClinGen:CA16619118
Deletion	NM_000051.4(ATM):c.1658del (p.Gly553fs)	ATM	Pathogenic	11	108122613	108122613	AG	A	criteria provided, single submitter	ClinGen:CA16619121
Deletion	NM_000051.4(ATM):c.1697_1706del (p.Val566fs)	ATM	Likely pathogenic	11	108122649	108122658	TGAAGTAAATA	T	criteria provided, single submitter	ClinGen:CA16619123
Indel	NM_000051.4(ATM):c.1749_1750delinsAT (p.Tyr583_Gln584delinsTer)	ATM	Likely pathogenic	11	108122705	108122706	TC	AT	criteria provided, single submitter	ClinGen:CA16619126
Deletion	NM_000051.4(ATM):c.2167_2173del (p.Val723fs)	ATM	Pathogenic	11	108126982	108126988	TTGGTGGG	T	criteria provided, single submitter	ClinGen:CA16619134
Duplication	NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)	ATM	Pathogenic/Likely pathogenic	11	108127015	108127016	G	GTGTAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619135
Deletion	NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)	ATM	Pathogenic/Likely pathogenic	11	108128242	108128243	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619137
Deletion	NM_000051.4(ATM):c.2483del (p.Lys828fs)	ATM	Pathogenic	11	108137910	108137910	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619141
Insertion	NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)	ATM	Pathogenic/Likely pathogenic	11	108139228	108139229	T	TAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619147
Duplication	NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)	ATM	Pathogenic/Likely pathogenic	11	108139302	108139303	C	CGCTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA6265114