家族性膵がん - MGenReviews

家族性膵がん

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_007294.4(BRCA1):c.5362G>T (p.Gly1788Cys)	BRCA1	Likely pathogenic	17	41201182	41201182	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA003528
single nucleotide variant	NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg)	BRCA1	Likely pathogenic	17	41199695	41199695	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003594
single nucleotide variant	NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)	BRCA1	Likely pathogenic	17	41197760	41197760	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003697
Insertion	NM_000059.4(BRCA2):c.5343_5344insA (p.Gln1782fs)	BRCA2	Likely pathogenic	13	32913835	32913836	T	TA	criteria provided, single submitter	ClinGen:CA022051
single nucleotide variant	NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro)	BRCA1	Likely pathogenic	17	41215379	41215379	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA003317
single nucleotide variant	NM_007294.4(BRCA1):c.5467+2T>G	BRCA1	Likely pathogenic	17	41199658	41199658	A	C	criteria provided, multiple submitters, no conflicts	Breast Cancer Information Core (BIC) (BRCA1):5586+2&base_change=T to G,ClinGen:CA003612
single nucleotide variant	PALB2:c.2515-1G>T	PALB2	Likely pathogenic	16	23640597	23640597	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114879,OMIM:610355.0008
single nucleotide variant	NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	PALB2	Likely pathogenic	16	23640552	23640552	G	A	reviewed by expert panel	ClinGen:CA269540
single nucleotide variant	NM_024675.4(PALB2):c.3202-1G>C	PALB2	Likely pathogenic	16	23619334	23619334	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269608
single nucleotide variant	NM_024675.4(PALB2):c.3350+4A>G	PALB2	Likely pathogenic	16	23619181	23619181	T	C	reviewed by expert panel	ClinGen:CA269618