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.1653T>A (p.Tyr551Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646214	23646214	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA251717,OMIM:610355.0001
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.2962C>T (p.Gln988Ter)	PALB2	Pathogenic	16	23634324	23634324	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA164468,OMIM:610355.0004
single nucleotide variant	NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)	PALB2	Pathogenic	16	23646840	23646840	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA151215,OMIM:610355.0011
Deletion	NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)	PALB2	Pathogenic	16	23646814	23646817	CTGTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA151218
Deletion	NM_024675.4(PALB2):c.1317del (p.Phe440fs)	PALB2	Pathogenic	16	23646550	23646550	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA294076
Deletion	NM_024675.4(PALB2):c.1479del (p.Thr494fs)	PALB2	Pathogenic	16	23646388	23646388	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA165295
Deletion	NM_024675.4(PALB2):c.1592del (p.Leu531fs)	PALB2	Pathogenic	16	23646275	23646275	CA	C	reviewed by expert panel	ClinGen:CA250432,OMIM:610355.0006
single nucleotide variant	NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)	PALB2	Pathogenic	16	23646234	23646234	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA167823
Indel	NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)	PALB2	Pathogenic	16	23646190	23646191	TT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA269504