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_024675.4(PALB2):c.1037_1041del (p.Lys346fs)	PALB2	Pathogenic	16	23646826	23646830	GTTCTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA165692
Deletion	NM_007294.4(BRCA1):c.5310_5311del (p.Pro1771fs)	BRCA1	Pathogenic	17	41203101	41203102	GGC	G	reviewed by expert panel	ClinGen:CA003463
Deletion	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	PALB2	Pathogenic	16	23634322	23634322	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165782
Duplication	NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)	BRCA2	Pathogenic	13	32913849	32913850	G	GT	reviewed by expert panel	ClinGen:CA165826
Duplication	NM_000059.4(BRCA2):c.3411dup (p.Gln1138fs)	BRCA2	Pathogenic	13	32911902	32911903	T	TG	reviewed by expert panel	ClinGen:CA165831
Deletion	NM_000059.4(BRCA2):c.429del (p.Val144fs)	BRCA2	Pathogenic	13	32900241	32900241	CT	C	reviewed by expert panel	ClinGen:CA019934
single nucleotide variant	NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	PALB2	Pathogenic	16	23647443	23647443	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166400
single nucleotide variant	NM_000059.4(BRCA2):c.8608C>T (p.Gln2870Ter)	BRCA2	Pathogenic	13	32945213	32945213	C	T	reviewed by expert panel	ClinGen:CA025733
Deletion	NM_000059.4(BRCA2):c.5557del (p.Cys1853fs)	BRCA2	Pathogenic	13	32914047	32914047	GT	G	reviewed by expert panel	ClinGen:CA022568
Deletion	NM_000059.4(BRCA2):c.3176_3177del (p.Leu1059fs)	BRCA2	Pathogenic	13	32911668	32911669	CTG	C	reviewed by expert panel	ClinGen:CA017476