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
Duplication	NM_024675.3(PALB2):c.3114-?_3201+?dup88	PALB2	Likely pathogenic	16	23625325	23625412	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.2515-1G>C	PALB2	Likely pathogenic	16	23640597	23640597	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337588
Duplication	NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs)	PALB2	Likely pathogenic	16	23641508	23641509	G	GGAAAAATACAGCTTCCCTCT	criteria provided, single submitter	ClinGen:CA10576111
Duplication	NM_024675.4(PALB2):c.577dup (p.Thr193fs)	PALB2	Likely pathogenic	16	23647289	23647290	G	GT	criteria provided, single submitter	ClinGen:CA10576117
Deletion	NM_024675.4(PALB2):c.522_523del (p.Arg175fs)	PALB2	Likely pathogenic	16	23647344	23647345	CTT	C	criteria provided, single submitter	ClinGen:CA10576118
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
Deletion	NM_024675.4(PALB2):c.1714del (p.Ser572fs)	PALB2	Likely pathogenic	16	23641761	23641761	GA	G	criteria provided, single submitter	ClinGen:CA10584515
single nucleotide variant	NM_024675.4(PALB2):c.1A>G (p.Met1Val)	PALB2	Likely pathogenic	16	23652478	23652478	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584527
Deletion	NM_024675.4(PALB2):c.3295_3301del (p.Thr1099fs)	PALB2	Likely pathogenic	16	23619234	23619240	AGAGTCGT	A	criteria provided, single submitter	ClinGen:CA10588599
single nucleotide variant	NM_024675.4(PALB2):c.3114-1G>A	PALB2	Likely pathogenic	16	23625413	23625413	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588602