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_024675.4(PALB2):c.2267_2283dup (p.His762fs)	PALB2	Pathogenic	16	23641191	23641192	G	GAGCAAGTTGGGGTGTGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963600
single nucleotide variant	NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)	PALB2	Pathogenic	16	23641409	23641409	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584512
Deletion	NM_024675.4(PALB2):c.1714del (p.Ser572fs)	PALB2	Likely pathogenic	16	23641761	23641761	GA	G	criteria provided, single submitter	ClinGen:CA10584515
Deletion	NM_024675.4(PALB2):c.1538del (p.Thr513fs)	PALB2	Pathogenic/Likely pathogenic	16	23646329	23646329	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584518
single nucleotide variant	NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647395	23647395	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584523
Duplication	NM_024675.4(PALB2):c.12dup (p.Pro5fs)	PALB2	Pathogenic	16	23652466	23652467	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584526
single nucleotide variant	NM_024675.4(PALB2):c.1A>G (p.Met1Val)	PALB2	Likely pathogenic	16	23652478	23652478	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584527
Deletion	NM_007294.4(BRCA1):c.5368del (p.Ser1790fs)	BRCA1	Pathogenic	17	41201176	41201176	GA	G	reviewed by expert panel	ClinGen:CA10584545
Deletion	NM_007294.4(BRCA1):c.5249del (p.Lys1750fs)	BRCA1	Pathogenic	17	41209097	41209097	CT	C	reviewed by expert panel	ClinGen:CA10584547
Duplication	NM_007294.4(BRCA1):c.5054_5057dup (p.Val1687fs)	BRCA1	Pathogenic	17	41219641	41219642	A	ATGAG	reviewed by expert panel	ClinGen:CA10584549