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
Indel	NM_000059.3(BRCA2):c.5794_5800delinsT (p.His1932_Gln1934delinsTer)	BRCA2	Pathogenic	13	32914286	32914292	CATAACC	T	criteria provided, single submitter	ClinGen:CA658656403
Deletion	NM_000059.4(BRCA2):c.7215_7218del (p.Val2407fs)	BRCA2	Pathogenic	13	32929204	32929207	GTCTT	G	criteria provided, single submitter	ClinGen:CA658656407
single nucleotide variant	NM_000059.4(BRCA2):c.8548G>T (p.Glu2850Ter)	BRCA2	Pathogenic	13	32945153	32945153	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA387752774
Deletion	NM_000059.4(BRCA2):c.8886_8950del (p.Leu2962fs)	BRCA2	Pathogenic	13	32953583	32953647	TTTATCAAGGGATGTCACAACCGTGTGGAAGTTGCGTATTGTAAGCTATTCAAAAAAAGAAAAAGA	T	criteria provided, single submitter	ClinGen:CA658656406
single nucleotide variant	NM_000059.4(BRCA2):c.8909G>A (p.Trp2970Ter)	BRCA2	Pathogenic	13	32953608	32953608	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA387757254
Deletion	NM_000059.4(BRCA2):c.8945_8946del (p.Lys2982fs)	BRCA2	Pathogenic	13	32953641	32953642	GAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656412
Deletion	NC_000016.10:g.(?_23603453)_(23614097_?)del	PALB2	Pathogenic	16	23614774	23625418	na	na	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)	PALB2	Pathogenic	16	23619228	23619229	C	CGCTGAGAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658455
Duplication	NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)	PALB2	Pathogenic/Likely pathogenic	16	23634319	23634320	T	TACTTGTTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576108
Deletion	NM_024675.4(PALB2):c.1424del (p.Ser474_Ser475insTer)	PALB2	Pathogenic	16	23646443	23646443	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658425