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_000059.3(BRCA2):c.517-?_631+?del	BRCA2	Pathogenic	13	32900636	32900750	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs)	BRCA2	Pathogenic	13	32913182	32913183	G	GC	reviewed by expert panel	ClinGen:CA020650
Deletion	NM_024675.3(PALB2):c.3351-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23614990	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3114-?_3350+?del	PALB2	Likely pathogenic	16	23619185	23625412	na	na	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs)	PALB2	Pathogenic	16	23634363	23634366	CTCTT	C	criteria provided, single submitter	ClinGen:CA334224
single nucleotide variant	NM_024675.4(PALB2):c.2835-1G>A	PALB2	Pathogenic/Likely pathogenic	16	23634452	23634452	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA334206
Deletion	NM_024675.4(PALB2):c.2597del (p.Gly866fs)	PALB2	Pathogenic	16	23637708	23637708	AC	A	criteria provided, single submitter	ClinGen:CA334362
Insertion	NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)	PALB2	Pathogenic	16	23641508	23641509	G	GGAAAAATACAGCTTCCTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA334264
Deletion	NM_007294.3(BRCA1):c.5278-?_5467+?del	BRCA1	Pathogenic	17	41199660	41203134	na	na	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007294.3(BRCA1):c.4186-?_4357+?dup172	BRCA1	Pathogenic	17	41234421	41234592	na	na	criteria provided, multiple submitters, no conflicts	-