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_024675.4(PALB2):c.3116del (p.Asn1039fs)	PALB2	Pathogenic/Likely pathogenic	16	23625410	23625410	AT	A	criteria provided, multiple submitters, no conflicts	OMIM:610355.0009,OMIM:610355.0005,ClinGen:CA151245
single nucleotide variant	NM_024675.4(PALB2):c.3202-1G>C	PALB2	Likely pathogenic	16	23619334	23619334	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269608
single nucleotide variant	NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619279	23619279	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211207,OMIM:610355.0010
Deletion	NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)	PALB2	Pathogenic	16	23619212	23619212	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA169555
single nucleotide variant	NM_024675.4(PALB2):c.3350+4A>G	PALB2	Likely pathogenic	16	23619181	23619181	T	C	reviewed by expert panel	ClinGen:CA269618
Deletion	NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	PALB2	Likely pathogenic	16	23614979	23614979	AC	A	reviewed by expert panel	ClinGen:CA167019
Deletion	NM_024675.4(PALB2):c.3497del (p.Gly1166fs)	PALB2	Pathogenic	16	23614844	23614844	AC	A	criteria provided, single submitter	ClinGen:CA151249
Deletion	NM_024675.4(PALB2):c.395del (p.Val132fs)	PALB2	Pathogenic	16	23647472	23647472	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269628
single nucleotide variant	NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647364	23647364	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA269633
Deletion	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Pathogenic	16	23647357	23647358	ATC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA214889