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.48+2T>G	PALB2	Likely pathogenic	16	23652429	23652429	A	C	criteria provided, single submitter	ClinGen:CA10580057
single nucleotide variant	NM_024675.4(PALB2):c.49-1G>A	PALB2	Likely pathogenic	16	23649451	23649451	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)	PALB2	Pathogenic	16	23649449	23649449	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)	PALB2	Pathogenic	16	23649437	23649437	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA7963863
Deletion	NM_024675.4(PALB2):c.72del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649427	23649427	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA151253
single nucleotide variant	NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)	PALB2	Pathogenic	16	23649426	23649426	T	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.76del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649423	23649423	CT	C	criteria provided, multiple submitters, no conflicts	-
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
Duplication	NM_024675.4(PALB2):c.93dup (p.Leu32fs)	PALB2	Pathogenic/Likely pathogenic	16	23649405	23649406	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA348754
single nucleotide variant	NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)	PALB2	Pathogenic	16	23649393	23649393	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609607