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.1323del (p.Ser442fs)	CHEK2	Pathogenic	22	29091167	29091167	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656821
Deletion	NM_007194.4(CHEK2):c.1451del (p.Pro484fs)	CHEK2	Pathogenic	22	29090030	29090030	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656817
Deletion	NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)	CHEK2	Pathogenic/Likely pathogenic	22	29091719	29091719	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10167705
Deletion	NM_007194.4(CHEK2):c.974del (p.Lys325fs)	CHEK2	Pathogenic	22	29095860	29095860	CT	C	criteria provided, single submitter	ClinGen:CA658656839
single nucleotide variant	NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29091719	29091719	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA411096601
single nucleotide variant	NM_007194.4(CHEK2):c.1008+2T>G	CHEK2	Likely pathogenic	22	29095824	29095824	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA411099208
Deletion	NM_007194.4(CHEK2):c.879del (p.Asp293fs)	CHEK2	Pathogenic	22	29099522	29099522	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656847
single nucleotide variant	NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)	CHEK2	Pathogenic/Likely pathogenic	22	29095873	29095873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA411099812
single nucleotide variant	NM_007194.4(CHEK2):c.909-1G>A	CHEK2	Likely pathogenic	22	29095926	29095926	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA411100223
Indel	NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)	CHEK2	Pathogenic/Likely pathogenic	22	29091711	29091719	TAACTCCTA	CTCCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656826