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
Duplication	NM_000059.4(BRCA2):c.2570dup (p.Arg858fs)	BRCA2	Pathogenic	13	32911061	32911062	C	CT	reviewed by expert panel	ClinGen:CA167960
single nucleotide variant	NM_000059.4(BRCA2):c.3296C>A (p.Ser1099Ter)	BRCA2	Pathogenic	13	32911788	32911788	C	A	reviewed by expert panel	ClinGen:CA017728
Deletion	NM_000059.4(BRCA2):c.9194_9195del (p.Phe3065fs)	BRCA2	Pathogenic	13	32954219	32954220	CTT	C	reviewed by expert panel	ClinGen:CA026025
Duplication	NM_007294.4(BRCA1):c.4799dup (p.Leu1600fs)	BRCA1	Pathogenic	17	41223131	41223132	C	CA	reviewed by expert panel	ClinGen:CA003027
single nucleotide variant	NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)	PALB2	Pathogenic	16	23641218	23641218	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168247
Deletion	NM_024675.4(PALB2):c.226del (p.Ile76fs)	PALB2	Pathogenic/Likely pathogenic	16	23647641	23647641	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294388
single nucleotide variant	NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)	PALB2	Pathogenic	16	23646609	23646609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA168278
Indel	NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)	PALB2	Pathogenic	16	23647205	23647206	AC	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA168666
single nucleotide variant	NM_024675.4(PALB2):c.3350+5G>A	PALB2	Likely pathogenic	16	23619180	23619180	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168760
Duplication	NM_024675.4(PALB2):c.2931dup (p.Val978fs)	PALB2	Pathogenic	16	23634354	23634355	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA168770