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_007294.4(BRCA1):c.212+1del	BRCA1	Likely pathogenic	17	41258472	41258472	AC	A	criteria provided, single submitter	ClinGen:CA001404
Deletion	NM_024675.3(PALB2):c.3114-?_3350+?del	PALB2	Likely pathogenic	16	23619185	23625412	na	na	criteria provided, single submitter	-
Deletion	NM_000059.4(BRCA2):c.67+2del	BRCA2	Likely pathogenic	13	32890666	32890666	GT	G	criteria provided, single submitter	ClinGen:CA335821
Duplication	NM_024675.3(PALB2):c.3114-?_3201+?dup88	PALB2	Likely pathogenic	16	23625325	23625412	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2515-1G>C	PALB2	Likely pathogenic	16	23640597	23640597	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337588
Duplication	NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs)	PALB2	Likely pathogenic	16	23641508	23641509	G	GGAAAAATACAGCTTCCCTCT	criteria provided, single submitter	ClinGen:CA10576111
Duplication	NM_024675.4(PALB2):c.577dup (p.Thr193fs)	PALB2	Likely pathogenic	16	23647289	23647290	G	GT	criteria provided, single submitter	ClinGen:CA10576117
Deletion	NM_024675.4(PALB2):c.522_523del (p.Arg175fs)	PALB2	Likely pathogenic	16	23647344	23647345	CTT	C	criteria provided, single submitter	ClinGen:CA10576118
Indel	NM_000077.5(CDKN2A):c.202_203delinsTT (p.Ala68Leu)	CDKN2A	Likely pathogenic	9	21971155	21971156	GC	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578845
single nucleotide variant	NM_000059.4(BRCA2):c.1909+2T>A	BRCA2	Likely pathogenic	13	32907526	32907526	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579514