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.3350+1G>A	PALB2	Pathogenic	16	23619184	23619184	C	T	criteria provided, single submitter	ClinGen:CA348374
Indel	NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)	PALB2	Pathogenic	16	23619246	23619249	GGTT	TCATTAAC	criteria provided, multiple submitters, no conflicts	ClinGen:CA350767
single nucleotide variant	NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)	PALB2	Pathogenic/Likely pathogenic	16	23619264	23619264	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350661
single nucleotide variant	NM_024675.4(PALB2):c.2834+2T>G	PALB2	Pathogenic	16	23635328	23635328	A	C	criteria provided, single submitter	ClinGen:CA349966
Duplication	NM_024675.4(PALB2):c.860dup (p.Ser288fs)	PALB2	Pathogenic/Likely pathogenic	16	23647006	23647007	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA348706
single nucleotide variant	NM_024675.4(PALB2):c.761C>A (p.Ser254Ter)	PALB2	Pathogenic	16	23647106	23647106	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA350807
Duplication	NM_024675.4(PALB2):c.93dup (p.Leu32fs)	PALB2	Pathogenic/Likely pathogenic	16	23649405	23649406	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA348754
single nucleotide variant	NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646825	23646825	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575850
Deletion	NM_024675.4(PALB2):c.3186del (p.Ala1063fs)	PALB2	Pathogenic	16	23625340	23625340	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353510
Deletion	NM_024675.4(PALB2):c.2391del (p.Gln797fs)	PALB2	Pathogenic/Likely pathogenic	16	23641084	23641084	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA269532