"deCODE genetics, Amgen"[submitter] AND "PALB2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126729	NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	PALB2 (R1086*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic/Likely pathogenic
Select item 933181	NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)	PALB2 (S1084*)	Single nucleotide variant (nonsense)	Malignant tumor of breast	GLikely pathogenic
Select item 2574091	NM_024675.4(PALB2):c.2835-1G>T	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 126675	NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)	PALB2 (W906*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 2574090	NM_024675.4(PALB2):c.1933del (p.Glu645fs)	PALB2 (E350fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2574089	NM_024675.4(PALB2):c.1916_1926del (p.Glu639fs)	PALB2 (E344fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 481027	NM_024675.4(PALB2):c.1684+1G>T	PALB2	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast +2 more	GLikely pathogenic
Select item 560018	NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)	PALB2 (Q260*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2574092	NM_024675.4(PALB2):c.373C>T (p.Gln125Ter)	PALB2 (Q105* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast	GPathogenic/Likely pathogenic