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.387del (p.Asp130fs)	ATM	Pathogenic/Likely pathogenic	11	108106450	108106450	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA6264597
single nucleotide variant	NM_000051.4(ATM):c.601C>T (p.Gln201Ter)	ATM	Pathogenic	11	108114784	108114784	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588488
Deletion	NM_000051.4(ATM):c.1235+1del	ATM	Likely pathogenic	11	108119829	108119829	TG	T	criteria provided, single submitter	ClinGen:CA10588489
single nucleotide variant	NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)	ATM	Pathogenic/Likely pathogenic	11	108122648	108122648	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588490
single nucleotide variant	NM_000051.4(ATM):c.1960C>T (p.Gln654Ter)	ATM	Pathogenic/Likely pathogenic	11	108124602	108124602	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588491
Deletion	NM_000051.4(ATM):c.2080_2081del (p.Leu694fs)	ATM	Likely pathogenic	11	108124721	108124722	GTC	G	criteria provided, single submitter	ClinGen:CA10588492
single nucleotide variant	NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)	ATM	Pathogenic/Likely pathogenic	11	108138014	108138014	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588494
Indel	NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)	ATM	Pathogenic/Likely pathogenic	11	108151754	108151755	TG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588495
single nucleotide variant	NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)	ATM	Pathogenic/Likely pathogenic	11	108154963	108154963	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588496
Deletion	NM_000051.4(ATM):c.3841del (p.Ser1281fs)	ATM	Pathogenic/Likely pathogenic	11	108155045	108155045	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588497