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.2336C>G (p.Ser779Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641139	23641139	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA194883
single nucleotide variant	NM_024675.4(PALB2):c.1930G>T (p.Gly644Ter)	PALB2	Pathogenic	16	23641545	23641545	C	A	criteria provided, single submitter	ClinGen:CA192870
Deletion	NM_024675.4(PALB2):c.1914_1929del (p.Phe638fs)	PALB2	Pathogenic	16	23641546	23641561	CAAACATTTTTGACTCA	C	criteria provided, single submitter	ClinGen:CA195964
Duplication	NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)	PALB2	Pathogenic	16	23646249	23646250	T	TAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA196319
single nucleotide variant	NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646416	23646416	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA197580
Deletion	NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)	PALB2	Pathogenic	16	23646781	23646782	CAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196485
single nucleotide variant	NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)	PALB2	Pathogenic/Likely pathogenic	16	23646927	23646927	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA197949
Deletion	NM_024675.3(PALB2):c.3351-?_*(1_?)del	PALB2	Pathogenic	16	23614779	23614990	na	na	criteria provided, single submitter	-
Deletion	NM_024675.3(PALB2):c.3114-?_3350+?del	PALB2	Likely pathogenic	16	23619185	23625412	na	na	criteria provided, single submitter	-
Deletion	NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs)	PALB2	Pathogenic	16	23634363	23634366	CTCTT	C	criteria provided, single submitter	ClinGen:CA334224