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.2837del (p.Ala946fs)	PALB2	Pathogenic	16	23634449	23634449	TG	T	criteria provided, single submitter	ClinGen:CA658658398
single nucleotide variant	NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641230	23641230	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395125490
single nucleotide variant	NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641257	23641257	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395125558
single nucleotide variant	NM_024675.4(PALB2):c.2787T>G (p.Tyr929Ter)	PALB2	Pathogenic	16	23635377	23635377	A	C	criteria provided, single submitter	ClinGen:CA395145066
single nucleotide variant	NM_024675.4(PALB2):c.2749-2A>C	PALB2	Likely pathogenic	16	23635417	23635417	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA395145283
Deletion	NM_024675.4(PALB2):c.1972del (p.Glu658fs)	PALB2	Pathogenic	16	23641503	23641503	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658412
single nucleotide variant	NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)	PALB2	Pathogenic	16	23641530	23641530	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA395127417
single nucleotide variant	NM_024675.4(PALB2):c.3350+4A>C	PALB2	Likely pathogenic	16	23619181	23619181	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658454
Deletion	NM_024675.4(PALB2):c.1795del (p.Ser599fs)	PALB2	Pathogenic	16	23641680	23641680	CT	C	criteria provided, single submitter	ClinGen:CA658658416
single nucleotide variant	NM_024675.4(PALB2):c.2748+1G>A	PALB2	Pathogenic/Likely pathogenic	16	23637556	23637556	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279488993