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	PALB2:c.2515-1G>T	PALB2	Likely pathogenic	16	23640597	23640597	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA114879,OMIM:610355.0008
single nucleotide variant	NM_024675.4(PALB2):c.2559C>T (p.Gly853=)	PALB2	Likely pathogenic	16	23640552	23640552	G	A	reviewed by expert panel	ClinGen:CA269540
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.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
single nucleotide variant	NM_024675.4(PALB2):c.3201+1G>T	PALB2	Likely pathogenic	16	23625324	23625324	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165631
single nucleotide variant	NM_024675.4(PALB2):c.3350+5G>A	PALB2	Likely pathogenic	16	23619180	23619180	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA168760
single nucleotide variant	NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)	PALB2	Likely pathogenic	16	23641401	23641401	G	A	reviewed by expert panel	ClinGen:CA294556
single nucleotide variant	NM_024675.4(PALB2):c.109-2A>G	PALB2	Likely pathogenic	16	23649275	23649275	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA299762
Deletion	NM_024675.3(PALB2):c.3114-?_3350+?del	PALB2	Likely pathogenic	16	23619185	23625412	na	na	criteria provided, single submitter	-