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_000051.4(ATM):c.1120C>T (p.Gln374Ter)	ATM	Pathogenic/Likely pathogenic	11	108119714	108119714	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.6325dup (p.Trp2109fs)	ATM	Pathogenic/Likely pathogenic	11	108188225	108188226	G	GT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)	ATM	Pathogenic/Likely pathogenic	11	108172484	108172485	T	TAG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.5178-1G>A	ATM	Pathogenic/Likely pathogenic	11	108172374	108172374	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)	ATM	Pathogenic/Likely pathogenic	11	108122707	108122710	CAGTT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.1305del (p.Leu435fs)	ATM	Pathogenic/Likely pathogenic	11	108121497	108121497	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.1236-1G>A	ATM	Pathogenic/Likely pathogenic	11	108121427	108121427	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000051.4(ATM):c.3292del (p.Gln1098fs)	ATM	Pathogenic/Likely pathogenic	11	108150224	108150224	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.1754dup (p.Leu585fs)	ATM	Pathogenic/Likely pathogenic	11	108122708	108122709	G	GT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)	ATM	Pathogenic/Likely pathogenic	11	108159742	108159742	C	A	criteria provided, multiple submitters, no conflicts	-