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_007294.4(BRCA1):c.2621del (p.Asn874fs)	BRCA1	Pathogenic	17	41244927	41244927	AT	A	reviewed by expert panel	ClinGen:CA001724
Duplication	NM_007294.4(BRCA1):c.485dup (p.Arg163fs)	BRCA1	Pathogenic	17	41251853	41251854	C	CA	reviewed by expert panel	ClinGen:CA164173
Deletion	NM_000059.4(BRCA2):c.3351del (p.Ile1117_Leu1118insTer)	BRCA2	Pathogenic	13	32911843	32911843	TA	T	reviewed by expert panel	ClinGen:CA017828
single nucleotide variant	NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)	PALB2	Pathogenic	16	23637593	23637593	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA164329
Deletion	NM_000059.4(BRCA2):c.6331_6332del (p.Lys2111fs)	BRCA2	Pathogenic	13	32914823	32914824	TAA	T	reviewed by expert panel	ClinGen:CA023923
single nucleotide variant	NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	BRCA2	Pathogenic	13	32910831	32910831	C	G	reviewed by expert panel	ClinGen:CA014999
Indel	NM_000059.4(BRCA2):c.6836_6837delinsCTTTGTGGTAAGTTT (p.Leu2279delinsSerLeuTrpTer)	BRCA2	Pathogenic	13	32915328	32915329	TA	CTTTGTGGTAAGTTT	reviewed by expert panel	ClinGen:CA024478
Duplication	NM_000059.4(BRCA2):c.681+2dup	BRCA2	Pathogenic/Likely pathogenic	13	32903631	32903631	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA024430
Duplication	NM_007294.4(BRCA1):c.512dup (p.Gln172fs)	BRCA1	Pathogenic	17	41251826	41251827	T	TA	reviewed by expert panel	ClinGen:CA164433
single nucleotide variant	NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter)	BRCA2	Pathogenic	13	32936731	32936731	G	A	reviewed by expert panel	ClinGen:CA025317