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_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	PALB2	Pathogenic	16	23614792	23614792	G	T	reviewed by expert panel	ClinGen:CA288488
Deletion	NM_000059.3(BRCA2):c.(?_-1)_67+?del	BRCA2	Pathogenic	13	32890470	32890470	na	na	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2006del (p.Glu669fs)	PALB2	Pathogenic	16	23641469	23641469	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA161342
Deletion	NM_007294.4(BRCA1):c.2506del (p.Glu836fs)	BRCA1	Pathogenic	17	41245042	41245042	TC	T	reviewed by expert panel	ClinGen:CA001659
Deletion	NM_007294.4(BRCA1):c.3874del (p.Ser1292fs)	BRCA1	Pathogenic	17	41243674	41243674	GA	G	reviewed by expert panel	ClinGen:CA002496
single nucleotide variant	NM_007294.4(BRCA1):c.81-2A>C	BRCA1	Pathogenic/Likely pathogenic	17	41267798	41267798	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003911
Deletion	NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)	PALB2	Pathogenic	16	23641307	23641308	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA164353
Deletion	NM_007294.4(BRCA1):c.5205del (p.Val1736fs)	BRCA1	Pathogenic	17	41209141	41209141	CT	C	reviewed by expert panel	ClinGen:CA003355
single nucleotide variant	NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val)	BRCA2	Pathogenic/Likely pathogenic	13	32937507	32937507	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA025485
Indel	NM_000059.4(BRCA2):c.9256_9256+1delinsTA	BRCA2	Pathogenic/Likely pathogenic	13	32954282	32954283	GG	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA164149