遺伝性乳がん (ATM/CHEK2)

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1093G>T (p.Glu365Ter)	ATM	Pathogenic/Likely pathogenic	11	108119687	108119687	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382532369
Deletion	NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)	ATM	Pathogenic	11	108119733	108119734	TAC	T	criteria provided, single submitter	ClinGen:CA658656212
Insertion	NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs)	ATM	Pathogenic	11	108236114	108236115	T	TTTCA	criteria provided, single submitter	ClinGen:CA658656281
single nucleotide variant	NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)	ATM	Pathogenic	11	108235861	108235861	T	A	criteria provided, single submitter	ClinGen:CA382529828
single nucleotide variant	NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)	ATM	Pathogenic	11	108128229	108128229	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382539621
single nucleotide variant	NM_000051.4(ATM):c.2466+2T>G	ATM	Likely pathogenic	11	108129804	108129804	T	G	criteria provided, single submitter	ClinGen:CA382541438
single nucleotide variant	NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)	ATM	Pathogenic	11	108139191	108139191	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA382545194
Duplication	NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs)	ATM	Pathogenic	11	108151828	108151829	A	AAC	criteria provided, single submitter	ClinGen:CA658656210
Deletion	NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)	ATM	Pathogenic	11	108153550	108153554	ACTTAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656236
single nucleotide variant	NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)	ATM	Pathogenic	11	108163402	108163402	T	G	criteria provided, single submitter	ClinGen:CA382533389