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.1685-2A>G	PALB2	Likely pathogenic	16	23641792	23641792	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963669
single nucleotide variant	NM_007294.4(BRCA1):c.5333-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41201213	41201213	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10590803
Indel	NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)	BRCA1	Pathogenic/Likely pathogenic	17	41209108	41209114	GTGGTTT	CTCGCTTTGGAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656663
Deletion	NC_000009.12:g.(?_21994140)_(21994331_?)del	CDKN2A	Pathogenic	9	21994139	21994330	na	na	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.283del (p.Val95fs)	CDKN2A	Pathogenic	9	21971075	21971075	AC	A	criteria provided, single submitter	ClinGen:CA658656027
single nucleotide variant	NM_000077.5(CDKN2A):c.79G>T (p.Glu27Ter)	CDKN2A	Pathogenic	9	21974748	21974748	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA373086600
Deletion	NC_000009.12:g.(?_21970896)_(21974833_?)del	CDKN2A	Pathogenic	9	21970895	21974832	na	na	criteria provided, single submitter	-
Deletion	NM_000077.5(CDKN2A):c.30del (p.Glu10fs)	CDKN2A	Pathogenic	9	21974797	21974797	GC	G	criteria provided, single submitter	ClinGen:CA658656038
Indel	NM_000077.5(CDKN2A):c.381_393delinsGATGCG (p.Arg128fs)	CDKN2A	Likely pathogenic	9	21970965	21970977	GCGCAGGTACCGT	CGCATC	criteria provided, single submitter	ClinGen:CA658656022
Deletion	NM_000077.5(CDKN2A):c.340_355del (p.Pro114fs)	CDKN2A	Likely pathogenic	9	21971003	21971018	TCAGCCAGGTCCACGGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656026