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
single nucleotide variant	NM_024675.4(PALB2):c.2834+2T>G	PALB2	Pathogenic	16	23635328	23635328	A	C	criteria provided, single submitter	ClinGen:CA349966
Duplication	NM_024675.4(PALB2):c.860dup (p.Ser288fs)	PALB2	Pathogenic/Likely pathogenic	16	23647006	23647007	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA348706
single nucleotide variant	NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)	PALB2	Pathogenic	16	23647106	23647106	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA350807
Duplication	NM_024675.4(PALB2):c.93dup (p.Leu32fs)	PALB2	Pathogenic/Likely pathogenic	16	23649405	23649406	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA348754
Deletion	NM_007294.3(BRCA1):c.5407-?_*(1_?)del	BRCA1	Pathogenic	17	41197694	41199720	na	na	criteria provided, single submitter	-
Deletion	NM_007294.3(BRCA1):c.548-?_4185+?del	BRCA1	Pathogenic	17	41242961	41249306	na	na	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.5525del (p.Val1842fs)	BRCA1	Pathogenic	17	41197762	41197762	TA	T	reviewed by expert panel	ClinGen:CA348508
single nucleotide variant	NM_007294.4(BRCA1):c.5152+5G>C	BRCA1	Pathogenic	17	41215886	41215886	C	G	criteria provided, single submitter	ClinGen:CA348506
Duplication	NM_007294.4(BRCA1):c.4709dup (p.Phe1571fs)	BRCA1	Pathogenic	17	41223221	41223222	G	GA	reviewed by expert panel	ClinGen:CA348034
Duplication	NM_007294.4(BRCA1):c.2378dup (p.Ala794fs)	BRCA1	Pathogenic	17	41245169	41245170	C	CT	reviewed by expert panel	ClinGen:CA348790