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
Deletion	NM_000059.4(BRCA2):c.8808del (p.Asn2937fs)	BRCA2	Likely pathogenic	13	32953507	32953507	TG	T	criteria provided, single submitter	-
Duplication	NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)	PALB2	Likely pathogenic	16	23625361	23625362	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641283	23641283	A	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.4(BRCA1):c.121dup (p.His41fs)	BRCA1	Likely pathogenic	17	41267755	41267756	T	TG	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.8218_8222del (p.Leu2740fs)	BRCA2	Likely pathogenic	13	32937557	32937561	CTTAAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)	PALB2	Pathogenic	16	23641556	23641556	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.3235dup (p.Ser1079fs)	BRCA2	Pathogenic	13	32911724	32911725	G	GT	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.4333_4337del (p.Lys1445fs)	BRCA2	Pathogenic/Likely pathogenic	13	32912822	32912826	TAATAA	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.5385dup (p.Asp1796fs)	BRCA2	Pathogenic	13	32913873	32913874	T	TA	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.5618_5622del (p.Val1873fs)	BRCA2	Pathogenic	13	32914110	32914114	GTAATT	G	criteria provided, single submitter	-