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
single nucleotide variant	NM_007194.4(CHEK2):c.683+1G>C	CHEK2	Likely pathogenic	22	29115382	29115382	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588722
Deletion	NM_007194.4(CHEK2):c.606del (p.Phe202fs)	CHEK2	Pathogenic/Likely pathogenic	22	29115460	29115460	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588723
single nucleotide variant	NM_000051.4(ATM):c.663-2A>G	ATM	Likely pathogenic	11	108115513	108115513	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603087
Deletion	NM_000051.4(ATM):c.4405del (p.Ile1469fs)	ATM	Likely pathogenic	11	108160497	108160497	TA	T	criteria provided, single submitter	ClinGen:CA10603089
single nucleotide variant	NM_000051.4(ATM):c.8672-1G>C	ATM	Pathogenic/Likely pathogenic	11	108224492	108224492	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603097
Duplication	NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)	ATM	Pathogenic	11	108119732	108119733	T	TACAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603226
Duplication	NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)	ATM	Pathogenic	11	108198405	108198406	T	TGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603232
Duplication	NM_007194.4(CHEK2):c.1209dup (p.Tyr404fs)	CHEK2	Likely pathogenic	22	29091747	29091748	A	AC	criteria provided, single submitter	ClinGen:CA10603388
Deletion	NM_000051.4(ATM):c.588del (p.Gly197fs)	ATM	Likely pathogenic	11	108114769	108114769	CA	C	criteria provided, single submitter	ClinGen:CA16041382
single nucleotide variant	NM_000051.4(ATM):c.877A>T (p.Lys293Ter)	ATM	Pathogenic/Likely pathogenic	11	108115729	108115729	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041383