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
single nucleotide variant	NM_000059.4(BRCA2):c.3106G>T (p.Glu1036Ter)	BRCA2	Pathogenic	13	32911598	32911598	G	T	reviewed by expert panel	ClinGen:CA16614263
Indel	NM_000059.4(BRCA2):c.3478_3481delinsTGAGGA (p.Arg1160_Asp1161delinsTer)	BRCA2	Pathogenic	13	32911970	32911973	AGAG	TGAGGA	reviewed by expert panel	ClinGen:CA16614286
single nucleotide variant	NM_000059.4(BRCA2):c.3515C>A (p.Ser1172Ter)	BRCA2	Pathogenic	13	32912007	32912007	C	A	reviewed by expert panel	ClinGen:CA16614291
Deletion	NM_000059.4(BRCA2):c.6074_6075del (p.Leu2025fs)	BRCA2	Pathogenic	13	32914565	32914566	GCT	G	reviewed by expert panel	ClinGen:CA16614332
Deletion	NM_000059.4(BRCA2):c.6574del (p.Met2192fs)	BRCA2	Pathogenic	13	32915062	32915062	TA	T	reviewed by expert panel	ClinGen:CA16614340
Indel	NM_000059.3(BRCA2):c.7115_7120delinsGC (p.Ser2372fs)	BRCA2	Pathogenic	13	32929105	32929110	CAAGCA	GC	reviewed by expert panel	ClinGen:CA16614348
Deletion	NC_000016.10:g.(?_23621362)_(23623130_?)del	PALB2	Likely pathogenic	16	23632683	23634451	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23621362)_(23626397_?)del	PALB2	Pathogenic	16	23632683	23637718	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_23626236)_(23630469_?)del	PALB2	Pathogenic	16	23637557	23641790	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3124dup (p.Thr1042fs)	PALB2	Pathogenic	16	23625401	23625402	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614812