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.8432del (p.Lys2811fs)	ATM	Pathogenic	11	108216477	108216477	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA168737
Deletion	NM_000051.4(ATM):c.1236-3_1236-2del	ATM	Pathogenic	11	108121425	108121426	TTA	T	criteria provided, single submitter	ClinGen:CA168774
single nucleotide variant	NM_007194.4(CHEK2):c.1462-2A>G	CHEK2	Likely pathogenic	22	29085205	29085205	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA168786
single nucleotide variant	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM	Pathogenic/Likely pathogenic	11	108205832	108205832	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294465
Deletion	NM_000051.4(ATM):c.717_720del (p.Phe239fs)	ATM	Pathogenic	11	108115569	108115572	TCCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA169212
Duplication	NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)	CHEK2	Pathogenic/Likely pathogenic	22	29085161	29085162	C	CCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA169372
single nucleotide variant	NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	ATM	Pathogenic/Likely pathogenic	11	108205807	108205807	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169419
Deletion	NM_007194.4(CHEK2):c.247del (p.Gln83fs)	CHEK2	Pathogenic/Likely pathogenic	22	29130463	29130463	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA169575
Deletion	NM_000051.4(ATM):c.5396del (p.Ser1799fs)	ATM	Pathogenic	11	108173656	108173656	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169727
single nucleotide variant	NM_007194.4(CHEK2):c.445-1G>C	CHEK2	Likely pathogenic	22	29121113	29121113	C	G	criteria provided, single submitter	ClinGen:CA169805