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_000059.4(BRCA2):c.3600T>A (p.Cys1200Ter)	BRCA2	Pathogenic/Likely pathogenic	13	32912092	32912092	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000077.5(CDKN2A):c.47T>C (p.Leu16Pro)	CDKN2A	Pathogenic/Likely pathogenic	9	21974780	21974780	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.2295del (p.Ser766fs)	BRCA1	Pathogenic/Likely pathogenic	17	41245253	41245253	TC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)	BRCA1	Pathogenic/Likely pathogenic	17	41226489	41226489	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647106	23647106	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641463	23641463	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)	PALB2	Pathogenic/Likely pathogenic	16	23635405	23635405	A	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	PALB2	Pathogenic/Likely pathogenic	16	23619237	23619238	T	TA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)	BRCA2	Pathogenic/Likely pathogenic	13	32972419	32972420	GAA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)	BRCA2	Pathogenic/Likely pathogenic	13	32930696	32930697	C	CT	criteria provided, multiple submitters, no conflicts	-