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.1212dup (p.Pro405fs)	PALB2	Pathogenic	16	23646654	23646655	G	GA	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.1152del (p.Ala385fs)	PALB2	Pathogenic	16	23646715	23646715	CT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.995_996del (p.Leu332fs)	PALB2	Pathogenic	16	23646871	23646872	TGA	T	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.532del (p.Glu178fs)	PALB2	Pathogenic	16	23647335	23647335	TC	T	reviewed by expert panel	-
Deletion	NC_000013.11:g.(?_32319057)_(32319345_?)del	BRCA2	Pathogenic	13	32893194	32893482	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.91del (p.Trp31fs)	BRCA2	Pathogenic	13	32893236	32893236	AT	A	criteria provided, single submitter	-
Duplication	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2	Pathogenic/Likely pathogenic	13	32900726	32900727	A	AC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.1774del (p.Tyr592fs)	BRCA2	Pathogenic/Likely pathogenic	13	32907387	32907387	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.2400_2401del (p.Asn801fs)	BRCA2	Pathogenic	13	32910892	32910893	GTA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.4723del (p.Asp1575fs)	BRCA2	Pathogenic	13	32913215	32913215	AG	A	criteria provided, single submitter	-