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.211+1G>T	PALB2	Pathogenic/Likely pathogenic	16	23649170	23649170	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_024675.4(PALB2):c.76del (p.Arg26fs)	PALB2	Pathogenic/Likely pathogenic	16	23649423	23649423	CT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)	PALB2	Pathogenic/Likely pathogenic	16	23640545	23640545	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647106	23647106	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641463	23641463	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)	PALB2	Pathogenic/Likely pathogenic	16	23635405	23635405	A	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)	PALB2	Pathogenic/Likely pathogenic	16	23619237	23619238	T	TA	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2	Pathogenic/Likely pathogenic	16	23641283	23641283	A	C	criteria provided, multiple submitters, no conflicts	-
Indel	NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)	PALB2	Pathogenic/Likely pathogenic	16	23646825	23646828	GTTC	TTTTTT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)	PALB2	Pathogenic/Likely pathogenic	16	23647392	23647392	C	A	criteria provided, multiple submitters, no conflicts	-