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.9633dup (p.Gly3212fs)	BRCA2	Pathogenic	13	32971165	32971166	C	CA	reviewed by expert panel	ClinGen:CA16619794
Deletion	NM_024675.4(PALB2):c.2878del (p.Leu960fs)	PALB2	Pathogenic/Likely pathogenic	16	23634408	23634408	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620122
Deletion	NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)	PALB2	Pathogenic/Likely pathogenic	16	23637670	23637671	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620128
Deletion	NM_024675.4(PALB2):c.2275del (p.Gln759fs)	PALB2	Pathogenic	16	23641200	23641200	TG	T	criteria provided, single submitter	ClinGen:CA16620136
Deletion	NM_024675.4(PALB2):c.1465del (p.Ser489fs)	PALB2	Pathogenic	16	23646402	23646402	GA	G	criteria provided, single submitter	ClinGen:CA16620144
Duplication	NM_024675.4(PALB2):c.1163dup (p.Leu389fs)	PALB2	Pathogenic/Likely pathogenic	16	23646703	23646704	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620152
Insertion	NM_024675.4(PALB2):c.1067_1068insTA (p.Lys356fs)	PALB2	Pathogenic	16	23646799	23646800	T	TTA	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620153
Deletion	NM_024675.4(PALB2):c.548del (p.Ser183fs)	PALB2	Pathogenic/Likely pathogenic	16	23647319	23647319	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620159
single nucleotide variant	NM_024675.4(PALB2):c.163C>T (p.Gln55Ter)	PALB2	Pathogenic	16	23649219	23649219	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620162
single nucleotide variant	NM_007294.4(BRCA1):c.5511G>C (p.Trp1837Cys)	BRCA1	Pathogenic/Likely pathogenic	17	41197776	41197776	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590294