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.7088del (p.Lys2363fs)	ATM	Pathogenic	11	108198481	108198481	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579250
single nucleotide variant	NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)	ATM	Pathogenic	11	108199847	108199847	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579253
single nucleotide variant	NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)	ATM	Pathogenic/Likely pathogenic	11	108201041	108201041	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579258,UniProtKB:Q13315#VAR_010858
Deletion	NM_000051.4(ATM):c.7629_7629+4del	ATM	Pathogenic/Likely pathogenic	11	108202281	108202285	ATAATG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6266145
Deletion	NM_000051.4(ATM):c.8010+1del	ATM	Likely pathogenic	11	108204695	108204695	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579279
single nucleotide variant	NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)	ATM	Likely pathogenic	11	108205790	108205790	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579282,UniProtKB:Q13315#VAR_010870
single nucleotide variant	NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)	ATM	Pathogenic	11	108206638	108206638	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579289
single nucleotide variant	NM_000051.4(ATM):c.8268+1G>T	ATM	Likely pathogenic	11	108206689	108206689	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579293
single nucleotide variant	NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)	ATM	Pathogenic	11	108213967	108213967	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579294
Duplication	NM_000051.4(ATM):c.8514dup (p.Phe2839fs)	ATM	Pathogenic	11	108216560	108216561	G	GA	criteria provided, single submitter	ClinGen:CA10579301