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.3549C>G (p.Tyr1183Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614792	23614792	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA151250,OMIM:610355.0003
single nucleotide variant	NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	PALB2	Pathogenic	16	23614792	23614792	G	T	reviewed by expert panel	ClinGen:CA288488
Duplication	NM_024675.4(PALB2):c.3542_3543dup (p.Val1182fs)	PALB2	Pathogenic	16	23614797	23614798	C	CAA	criteria provided, single submitter	-
single nucleotide variant	NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)	PALB2	Pathogenic	16	23614818	23614818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395137833
Deletion	NM_024675.4(PALB2):c.3497del (p.Gly1166fs)	PALB2	Pathogenic	16	23614844	23614844	AC	A	criteria provided, single submitter	ClinGen:CA151249
single nucleotide variant	NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)	PALB2	Pathogenic/Likely pathogenic	16	23614847	23614847	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA395137923
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
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