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.3374_3395del (p.Asp1125fs)	PALB2	Pathogenic/Likely pathogenic	16	23614946	23614967	CAAGATTGCTGCTGCACAGTGAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579917
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.3358G>T (p.Glu1120Ter)	PALB2	Pathogenic	16	23614983	23614983	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10579919
Deletion	NM_024675.3(PALB2):c.3351-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23614990	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3351-?_*297del	PALB2	Pathogenic	16	23614483	23614990	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3351-2A>G	PALB2	Likely pathogenic	16	23614992	23614992	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615066
Deletion	NC_000016.10:g.(?_23603449)_(23603679_?)del	PALB2	Pathogenic	16	23614770	23615000	na	na	criteria provided, single submitter	-
Duplication	NM_024675.3(PALB2):c.3350+1090_*1278dup	PALB2	Likely pathogenic	16	23613502	23618095	na	na	criteria provided, single submitter	ClinGen:CA645372597
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.3350+4A>G	PALB2	Likely pathogenic	16	23619181	23619181	T	C	reviewed by expert panel	ClinGen:CA269618