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.1451T>A (p.Leu484Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646416	23646416	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA197580
Deletion	NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)	PALB2	Pathogenic	16	23646781	23646782	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196485
single nucleotide variant	NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646927	23646927	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197949
Indel	NM_007294.4(BRCA1):c.5359_5363delinsAGTGA (p.Cys1787_Gly1788delinsSerAsp)	BRCA1	Pathogenic	17	41201181	41201185	CCACA	TCACT	reviewed by expert panel	ClinGen:CA003524
Deletion	NM_007294.4(BRCA1):c.5269_5273del (p.Asp1757fs)	BRCA1	Pathogenic	17	41209073	41209077	TCTGTC	T	reviewed by expert panel	ClinGen:CA003412
single nucleotide variant	NM_007294.4(BRCA1):c.5153-2A>G	BRCA1	Pathogenic/Likely pathogenic	17	41215392	41215392	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA003300
single nucleotide variant	NM_007294.4(BRCA1):c.5027T>G (p.Leu1676Ter)	BRCA1	Pathogenic	17	41219672	41219672	A	C	reviewed by expert panel	ClinGen:CA003160
single nucleotide variant	NM_007294.4(BRCA1):c.4834C>T (p.Gln1612Ter)	BRCA1	Pathogenic	17	41223097	41223097	G	A	reviewed by expert panel	ClinGen:CA003041
single nucleotide variant	NM_007294.4(BRCA1):c.4675+1G>T	BRCA1	Pathogenic	17	41226347	41226347	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA002958
single nucleotide variant	NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)	BRCA1	Pathogenic	17	41226500	41226500	C	T	reviewed by expert panel	ClinGen:CA002892