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_007194.4(CHEK2):c.893_897del (p.Tyr298fs)	CHEK2	Pathogenic	22	29099504	29099508	CAATAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684248
single nucleotide variant	NM_007194.4(CHEK2):c.792+1G>A	CHEK2	Likely pathogenic	22	29107896	29107896	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411103030
single nucleotide variant	NM_007194.4(CHEK2):c.1095+1G>T	CHEK2	Likely pathogenic	22	29092888	29092888	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411097406
Deletion	NM_007194.4(CHEK2):c.847-14_847-2del	CHEK2	Likely pathogenic	22	29099556	29099568	CTAAGAAGAGGGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684249
single nucleotide variant	NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29107932	29107932	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411103191
Deletion	NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)	CHEK2	Pathogenic	22	29121085	29121106	GCAATGTAAGAGTTTTTAGGACC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684263
single nucleotide variant	NM_007194.4(CHEK2):c.1461+1G>T	CHEK2	Likely pathogenic	22	29090019	29090019	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411093852
single nucleotide variant	NM_007194.4(CHEK2):c.1375+2T>A	CHEK2	Likely pathogenic	22	29091113	29091113	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411095305
single nucleotide variant	NM_000051.4(ATM):c.157A>T (p.Lys53Ter)	ATM	Pathogenic/Likely pathogenic	11	108098587	108098587	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA382520363
single nucleotide variant	NM_007194.4(CHEK2):c.908+1G>C	CHEK2	Likely pathogenic	22	29099492	29099492	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA411100868