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
single nucleotide variant	NM_000051.4(ATM):c.8431A>T (p.Lys2811Ter)	ATM	Pathogenic	11	108216482	108216482	A	T	criteria provided, single submitter	ClinGen:CA382517770
single nucleotide variant	NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro)	ATM	Likely pathogenic	11	108216546	108216546	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA382518107
single nucleotide variant	NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)	ATM	Pathogenic	11	108235837	108235837	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382529659
Duplication	NM_000051.4(ATM):c.5784dup (p.Asn1929Ter)	ATM	Pathogenic	11	108180903	108180904	A	AT	criteria provided, single submitter	ClinGen:CA645369432
single nucleotide variant	NM_000051.4(ATM):c.6312G>A (p.Trp2104Ter)	ATM	Pathogenic/Likely pathogenic	11	108188213	108188213	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA382552161
single nucleotide variant	NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	CHEK2	Pathogenic	22	29121258	29121258	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411107953
Duplication	NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs)	ATM	Pathogenic	11	108153526	108153526	T	TAA	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	ATM	Pathogenic/Likely pathogenic	11	108114835	108114835	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382528550
single nucleotide variant	NM_000051.4(ATM):c.664C>T (p.Gln222Ter)	ATM	Pathogenic/Likely pathogenic	11	108115516	108115516	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382528913
single nucleotide variant	NM_000051.4(ATM):c.1066-2A>T	ATM	Likely pathogenic	11	108119658	108119658	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532304