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.3491G>A (p.Trp1164Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614850	23614850	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584500
Duplication	NM_024675.4(PALB2):c.3473_3476dup (p.Trp1159Ter)	PALB2	Pathogenic	16	23614864	23614865	C	CCAAT	criteria provided, single submitter	ClinGen:CA10579912
single nucleotide variant	NM_024675.4(PALB2):c.3477G>A (p.Trp1159Ter)	PALB2	Pathogenic	16	23614864	23614864	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)	PALB2	Pathogenic	16	23614865	23614865	C	T	criteria provided, single submitter	ClinGen:CA166575
Duplication	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2	Pathogenic	16	23614884	23614885	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA288484
Deletion	NM_024675.4(PALB2):c.3455del (p.Pro1152fs)	PALB2	Pathogenic	16	23614886	23614886	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)	PALB2	Pathogenic	16	23614900	23614900	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)	PALB2	Pathogenic	16	23614905	23614905	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395138158
Duplication	NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)	PALB2	Pathogenic	16	23614914	23614915	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA294563
Deletion	NM_024675.4(PALB2):c.3425del (p.Leu1142fs)	PALB2	Pathogenic/Likely pathogenic	16	23614916	23614916	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042144