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.9648+1G>C	BRCA2	Pathogenic/Likely pathogenic	13	32971182	32971182	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA026248
Deletion	NM_000059.4(BRCA2):c.9728del (p.Pro3243fs)	BRCA2	Pathogenic	13	32972377	32972377	AC	A	reviewed by expert panel	ClinGen:CA026286
Duplication	NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)	BRCA2	Pathogenic	13	32972540	32972541	C	CATTT	reviewed by expert panel	ClinGen:CA026323
single nucleotide variant	NM_024675.4(PALB2):c.2834+1G>A	PALB2	Pathogenic/Likely pathogenic	16	23635329	23635329	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299740
Deletion	NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)	PALB2	Pathogenic/Likely pathogenic	16	23637577	23637578	TAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299664
Duplication	NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)	PALB2	Pathogenic	16	23637659	23637660	A	ACAAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA299663
single nucleotide variant	NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641246	23641246	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA299725
Deletion	NM_024675.4(PALB2):c.2154del (p.Arg718fs)	PALB2	Pathogenic	16	23641321	23641321	GC	G	criteria provided, single submitter	ClinGen:CA299662
Deletion	NM_024675.4(PALB2):c.2032del (p.Leu678fs)	PALB2	Pathogenic	16	23641443	23641443	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299661
Deletion	NM_024675.4(PALB2):c.1924del (p.Met642fs)	PALB2	Pathogenic/Likely pathogenic	16	23641551	23641551	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299660