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
Deletion	NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	PALB2	Likely pathogenic	16	23614979	23614979	AC	A	reviewed by expert panel	ClinGen:CA167019
Indel	NM_007294.4(BRCA1):c.5153-16_5156delinsAATA	BRCA1	Likely pathogenic	17	41215387	41215406	ACCCCTAAAGAGATCATAGA	TATT	criteria provided, single submitter	ClinGen:CA164592
single nucleotide variant	NM_024675.4(PALB2):c.3201+1G>T	PALB2	Likely pathogenic	16	23625324	23625324	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165631
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
single nucleotide variant	NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)	PALB2	Likely pathogenic	16	23641401	23641401	G	A	reviewed by expert panel	ClinGen:CA294556
single nucleotide variant	NM_007294.4(BRCA1):c.4358-2786G>A	BRCA1	Likely pathogenic	17	41231417	41231417	C	T	criteria provided, single submitter	ClinGen:CA002798
single nucleotide variant	NM_024675.4(PALB2):c.109-2A>G	PALB2	Likely pathogenic	16	23649275	23649275	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299762
single nucleotide variant	NM_000077.5(CDKN2A):c.179C>A (p.Ala60Glu)	CDKN2A	Likely pathogenic	9	21971179	21971179	G	T	criteria provided, single submitter	ClinGen:CA194216
single nucleotide variant	NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)	CDKN2A	Likely pathogenic	9	21974678	21974678	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA198385
single nucleotide variant	NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys)	BRCA2	Likely pathogenic	13	32932063	32932063	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA025278