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
Deletion	NM_024675.4(PALB2):c.2079del (p.His693fs)	PALB2	Pathogenic	16	23641396	23641396	TA	T	criteria provided, single submitter	ClinGen:CA10583366
single nucleotide variant	NM_024675.4(PALB2):c.1369G>T (p.Glu457Ter)	PALB2	Pathogenic	16	23646498	23646498	C	A	criteria provided, single submitter	ClinGen:CA10583374
single nucleotide variant	NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)	PALB2	Pathogenic	16	23649420	23649420	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583387
single nucleotide variant	NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)	PALB2	Pathogenic	16	23652472	23652472	C	A	reviewed by expert panel	ClinGen:CA10583388
single nucleotide variant	NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614849	23614849	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584499
single nucleotide variant	NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614850	23614850	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584500
Deletion	NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)	PALB2	Pathogenic/Likely pathogenic	16	23619295	23619296	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584503
Duplication	NM_024675.4(PALB2):c.2961dup (p.Gln988fs)	PALB2	Pathogenic	16	23634324	23634325	G	GT	criteria provided, single submitter	ClinGen:CA10584508
single nucleotide variant	NM_024675.4(PALB2):c.2860G>T (p.Glu954Ter)	PALB2	Pathogenic	16	23634426	23634426	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584509
Duplication	NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)	PALB2	Pathogenic	16	23641191	23641192	G	GAGCAAGTTGGGGTGTGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963600