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.4280del (p.Ala1427fs)	ATM	Pathogenic	11	108160372	108160372	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)	ATM	Pathogenic	11	108160475	108160475	G	A	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs)	ATM	Pathogenic	11	108160494	108160495	GT	A	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.4669del (p.Ile1557fs)	ATM	Pathogenic	11	108164097	108164097	TA	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5076del (p.Asp1693fs)	ATM	Pathogenic	11	108170509	108170509	TA	T	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs)	ATM	Pathogenic	11	108172482	108172489	GCCTATCTA	G	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)	ATM	Pathogenic	11	108173612	108173615	ACCCT	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000051.4(ATM):c.5395dup (p.Ser1799fs)	ATM	Pathogenic	11	108173653	108173654	T	TA	criteria provided, single submitter	-
Indel	NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)	ATM	Pathogenic	11	108180929	108180939	TTTAAATTATC	ATT	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000051.3(ATM):c.5902_5903insSVAelement	ATM	Pathogenic	11	108181026	108181027	na	na	criteria provided, single submitter	-