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.9146del (p.Phe3049fs)	ATM	Likely pathogenic	11	108236207	108236207	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	ATM	Pathogenic	11	108236203	108236203	C	T	reviewed by expert panel	ClinGen:CA115937,OMIM:607585.0012
Duplication	NM_000051.4(ATM):c.9131dup (p.Asn3044fs)	ATM	Pathogenic	11	108236190	108236191	C	CA	criteria provided, single submitter	-
Deletion	NM_000051.4(ATM):c.9112del (p.Gln3038fs)	ATM	Pathogenic	11	108236176	108236176	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA287048
single nucleotide variant	NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)	ATM	Likely pathogenic	11	108236173	108236173	C	T	criteria provided, single submitter	-
Duplication	NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	ATM	Pathogenic/Likely pathogenic	11	108236142	108236143	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA332369
Deletion	NM_000051.4(ATM):c.9073del (p.Val3025fs)	ATM	Pathogenic	11	108236137	108236137	TG	T	criteria provided, single submitter	ClinGen:CA658797746
Duplication	NM_000051.4(ATM):c.9064dup (p.Glu3022fs)	ATM	Pathogenic/Likely pathogenic	11	108236127	108236128	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041432
Insertion	NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs)	ATM	Pathogenic	11	108236114	108236115	T	TTTCA	criteria provided, single submitter	ClinGen:CA658656281
Deletion	NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)	ATM	Pathogenic/Likely pathogenic	11	108236109	108236119	AGAAACTGAAAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA169859