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_000059.4(BRCA2):c.2045del (p.Ile682fs)	BRCA2	Pathogenic	13	32910537	32910537	AT	A	reviewed by expert panel	ClinGen:CA10584440
Deletion	NM_000059.4(BRCA2):c.2677del (p.Gln893fs)	BRCA2	Pathogenic	13	32911168	32911168	TC	T	reviewed by expert panel	ClinGen:CA10584441
Deletion	NM_000059.4(BRCA2):c.4594_4598del (p.Val1532fs)	BRCA2	Pathogenic	13	32913084	32913088	AAAGTT	A	reviewed by expert panel	ClinGen:CA10584446
Deletion	NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)	BRCA2	Pathogenic	13	32915250	32915250	CT	C	reviewed by expert panel	ClinGen:CA10584450
single nucleotide variant	NM_000059.4(BRCA2):c.7617+1G>C	BRCA2	Pathogenic	13	32930747	32930747	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584451
single nucleotide variant	NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614849	23614849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584499
single nucleotide variant	NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614850	23614850	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584500
Deletion	NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)	PALB2	Pathogenic/Likely pathogenic	16	23619295	23619296	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584503
Duplication	NM_024675.4(PALB2):c.2961dup (p.Gln988fs)	PALB2	Pathogenic	16	23634324	23634325	G	GT	criteria provided, single submitter	ClinGen:CA10584508
single nucleotide variant	NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)	PALB2	Pathogenic	16	23634426	23634426	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584509