"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128144	NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 126745	NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 460993	NM_024675.4(PALB2):c.3394T>C (p.Leu1132=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1205957	NM_024675.4(PALB2):c.2996+1del	PALB2	Deletion (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 126683	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	PALB2 (L939W)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 138575	NM_024675.4(PALB2):c.2742C>T (p.Phe914=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +5 more	GBenign/Likely benign
Select item 126669	NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)	PALB2 (P864S)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 225863	NM_024675.4(PALB2):c.2328C>T (p.Phe776=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GLikely benign
Select item 136133	NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)	PALB2 (L763F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126608	NM_024675.4(PALB2):c.1572A>G (p.Ser524=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 126592	NM_024675.4(PALB2):c.1194G>A (p.Val398=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 126769	NM_024675.4(PALB2):c.758dup (p.Ser254fs)	PALB2 (S254fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	not specified +10 more	GPathogenic
Select item 185108	NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)	PALB2 (R37S)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 141256	NM_024675.4(PALB2):c.101G>A (p.Arg34His)	PALB2 (R34H)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance