家族性膵がん - MGenReviews

家族性膵がん

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
Duplication	NM_024675.4(PALB2):c.284dup (p.Thr96fs)	PALB2	Pathogenic	16	23647582	23647583	C	CT	criteria provided, single submitter	ClinGen:CA16614875
Deletion	NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)	PALB2	Pathogenic/Likely pathogenic	16	23641768	23641769	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614886
single nucleotide variant	NM_024675.4(PALB2):c.1435C>T (p.Gln479Ter)	PALB2	Pathogenic	16	23646432	23646432	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614893
Duplication	NM_024675.4(PALB2):c.1424dup (p.Arg476fs)	PALB2	Pathogenic	16	23646442	23646443	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614897
Insertion	NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)	PALB2	Pathogenic	16	23646934	23646935	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614904
single nucleotide variant	NM_024675.4(PALB2):c.3351-2A>G	PALB2	Likely pathogenic	16	23614992	23614992	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615066
Deletion	NC_000017.11:g.(?_43044295)_(43045802_?)del	BRCA1	Pathogenic	17	41196312	41197819	na	na	criteria provided, single submitter	-
Duplication	NM_007294.3(BRCA1):c.5075-?_5193+?dup119	BRCA1	Pathogenic	17	41215350	41215968	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43063333)_(43124115_?)del	BRCA1	Pathogenic	17	41215350	41276132	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_43047643)_(43124115_?)del	BRCA1	Pathogenic	17	41199660	41276132	na	na	criteria provided, single submitter	-