PALB2変異陽性乳がん・膵臓がん

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.2761C>T (p.Gln921Ter)	PALB2	Pathogenic	16	23635403	23635403	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA269569
single nucleotide variant	NM_024675.4(PALB2):c.2835-1G>C	PALB2	Pathogenic/Likely pathogenic	16	23634452	23634452	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA331795
Deletion	NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)	PALB2	Pathogenic	16	23634365	23634366	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA294510
Duplication	NM_024675.4(PALB2):c.2982dup (p.Ala995fs)	PALB2	Pathogenic/Likely pathogenic	16	23634303	23634304	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA269588
Deletion	NM_024675.4(PALB2):c.3026del (p.Pro1009fs)	PALB2	Pathogenic	16	23632770	23632770	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294562
Deletion	NM_024675.4(PALB2):c.3048del (p.Phe1016fs)	PALB2	Pathogenic/Likely pathogenic	16	23632748	23632748	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA165090
single nucleotide variant	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	PALB2	Pathogenic	16	23632683	23632683	C	T	reviewed by expert panel	ClinGen:CA251004,OMIM:610355.0013
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