家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Indel	NM_000059.4(BRCA2):c.8566_8567delinsC (p.Glu2856fs)	BRCA2	Pathogenic	13	32945171	32945172	GA	C	reviewed by expert panel	ClinGen:CA10576074
Deletion	NM_000059.4(BRCA2):c.8930del (p.Tyr2977fs)	BRCA2	Pathogenic	13	32953629	32953629	TA	T	reviewed by expert panel	ClinGen:CA10576075
Deletion	NM_000059.4(BRCA2):c.9053_9057del (p.Ser3018fs)	BRCA2	Pathogenic	13	32953983	32953987	AAAAGT	A	reviewed by expert panel	ClinGen:CA10576076
Deletion	NM_000059.4(BRCA2):c.9117+1del	BRCA2	Pathogenic/Likely pathogenic	13	32954050	32954050	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576077
Deletion	NM_007294.4(BRCA1):c.1600del (p.Gln534fs)	BRCA1	Pathogenic	17	41245948	41245948	TG	T	reviewed by expert panel	ClinGen:CA10576086
Deletion	NM_007294.4(BRCA1):c.886del (p.Arg296fs)	BRCA1	Pathogenic	17	41246662	41246662	CT	C	reviewed by expert panel	ClinGen:CA10576089
Duplication	NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs)	PALB2	Likely pathogenic	16	23641508	23641509	G	GGAAAAATACAGCTTCCCTCT	criteria provided, single submitter	ClinGen:CA10576111
Duplication	NM_024675.4(PALB2):c.693dup (p.Gly232fs)	PALB2	Pathogenic/Likely pathogenic	16	23647173	23647174	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576116
Duplication	NM_024675.4(PALB2):c.577dup (p.Thr193fs)	PALB2	Likely pathogenic	16	23647289	23647290	G	GT	criteria provided, single submitter	ClinGen:CA10576117
Deletion	NM_024675.4(PALB2):c.522_523del (p.Arg175fs)	PALB2	Likely pathogenic	16	23647344	23647345	CTT	C	criteria provided, single submitter	ClinGen:CA10576118