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.3626_3627del (p.Phe1209fs)	ATM	Pathogenic	11	108153485	108153486	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA197933
Indel	NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)	ATM	Pathogenic	11	108154961	108154963	TAT	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA190854
Deletion	NM_000051.4(ATM):c.3760del (p.Val1254fs)	ATM	Pathogenic	11	108154966	108154966	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA196848
Duplication	NM_000051.4(ATM):c.3780dup (p.Ile1261fs)	ATM	Pathogenic	11	108154986	108154987	T	TG	criteria provided, single submitter	ClinGen:CA193873
Deletion	NM_000051.4(ATM):c.3895del (p.Ala1299fs)	ATM	Pathogenic	11	108155102	108155102	TG	T	criteria provided, single submitter	ClinGen:CA196828
Deletion	NM_000051.4(ATM):c.4052del (p.Leu1351fs)	ATM	Pathogenic	11	108158384	108158384	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA192548
single nucleotide variant	NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	ATM	Pathogenic	11	108165729	108165729	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA197013
single nucleotide variant	NM_000051.4(ATM):c.5497-2A>G	ATM	Pathogenic/Likely pathogenic	11	108175400	108175400	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA197864
Deletion	NM_000051.4(ATM):c.5765del (p.Pro1922fs)	ATM	Pathogenic	11	108180888	108180888	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA194287
single nucleotide variant	NM_000051.4(ATM):c.6006+1G>A	ATM	Pathogenic/Likely pathogenic	11	108183226	108183226	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA191382