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.642del (p.Lys215fs)	ATM	Pathogenic	11	108114824	108114824	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578969
single nucleotide variant	NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	ATM	Pathogenic/Likely pathogenic	11	108115681	108115681	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578979
single nucleotide variant	NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	ATM	Pathogenic/Likely pathogenic	11	108115727	108115727	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q13315#VAR_010802,ClinGen:CA6264689
single nucleotide variant	NM_000051.4(ATM):c.901+1G>T	ATM	Pathogenic/Likely pathogenic	11	108115754	108115754	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578981
single nucleotide variant	NM_000051.4(ATM):c.1066-1G>A	ATM	Likely pathogenic	11	108119659	108119659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578992
Deletion	NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)	ATM	Pathogenic/Likely pathogenic	11	108119772	108119773	TGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579000
single nucleotide variant	NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)	ATM	Pathogenic	11	108121588	108121588	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579008
Deletion	NM_000051.4(ATM):c.1439_1448del (p.Leu480fs)	ATM	Pathogenic	11	108121630	108121639	TTTATTAAAAC	T	criteria provided, single submitter	ClinGen:CA10579011
Deletion	NM_000051.4(ATM):c.1660del (p.Thr554fs)	ATM	Pathogenic	11	108122615	108122615	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579019
single nucleotide variant	NM_000051.4(ATM):c.1768G>T (p.Glu590Ter)	ATM	Pathogenic	11	108122724	108122724	G	T	criteria provided, single submitter	ClinGen:CA10579025