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.3627del (p.Phe1209fs)	ATM	Pathogenic	11	108153485	108153485	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA169922
single nucleotide variant	NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)	ATM	Pathogenic	11	108153533	108153533	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382523231
Deletion	NM_000051.4(ATM):c.3747-3_3751del	ATM	Likely pathogenic	11	108154949	108154956	TTTTAGATC	T	criteria provided, single submitter	ClinGen:CA658656246
Deletion	NM_000051.4(ATM):c.4087del (p.Thr1363fs)	ATM	Pathogenic	11	108158420	108158420	CA	C	criteria provided, single submitter	ClinGen:CA658656282
single nucleotide variant	NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)	ATM	Pathogenic	11	108163518	108163518	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382534097
Deletion	NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)	ATM	Pathogenic/Likely pathogenic	11	108170534	108170538	CTTAAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656233
Deletion	NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)	ATM	Pathogenic	11	108178666	108178667	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656268
single nucleotide variant	NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)	ATM	Pathogenic	11	108183163	108183163	C	T	criteria provided, single submitter	ClinGen:CA382548683
single nucleotide variant	NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)	ATM	Pathogenic/Likely pathogenic	11	108200944	108200944	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA228418043
single nucleotide variant	NM_000051.4(ATM):c.8671+1G>T	ATM	Likely pathogenic	11	108218093	108218093	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382521374