"Clinical Genetics Laboratory, Department of Pathology, Netherlands Ca - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126745	NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 128142	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2 (P1153fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 126730	NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)	PALB2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 126714	NM_024675.4(PALB2):c.3114-51=	PALB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 231961	NM_024675.4(PALB2):c.3113+5G>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 126701	NM_024675.4(PALB2):c.2996+17T>C	PALB2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +6 more	GBenign/Likely benign
Select item 126699	NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)	PALB2 (G998E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 126683	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	PALB2 (L939W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 126682	NM_024675.4(PALB2):c.2794G>A (p.Val932Met)	PALB2 (V932M)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 1275853	NM_024675.4(PALB2):c.2749-72A>C	PALB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 142328	NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg)	PALB2 (S873R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136135	NM_024675.4(PALB2):c.2607C>T (p.Ser869=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 126669	NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)	PALB2 (P864S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GBenign/Likely benign
Select item 126666	NM_024675.4(PALB2):c.2587-38C>G	PALB2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 126663	NM_024675.4(PALB2):c.2586+58C>T	PALB2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 126648	NM_024675.4(PALB2):c.2365C>T (p.Leu789=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 126642	NM_024675.4(PALB2):c.2256A>G (p.Gly752=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 126637	NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)	PALB2 (A712V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +6 more	GBenign/Likely benign
Select item 126630	NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)	PALB2 (E672Q)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 128122	NM_024675.4(PALB2):c.1697G>A (p.Arg566His)	PALB2 (R566H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 126618	NM_024675.4(PALB2):c.1684+18TGA[9]	PALB2	Microsatellite (intron variant)	Breast and/or ovarian cancer +3 more	GBenign/Likely benign
Select item 126616	NM_024675.4(PALB2):c.1684+29A>G	PALB2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +4 more	GBenign
Select item 126613	NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg)	PALB2 (Q559R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +7 more	GBenign/Likely benign
Select item 126610	NM_024675.4(PALB2):c.1606C>T (p.Leu536=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 126608	NM_024675.4(PALB2):c.1572A>G (p.Ser524=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 126602	NM_024675.4(PALB2):c.1431C>T (p.Thr477=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 126601	NM_024675.4(PALB2):c.1419A>C (p.Pro473=)	PALB2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +6 more	GBenign/Likely benign
Select item 126592	NM_024675.4(PALB2):c.1194G>A (p.Val398=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 126582	NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)	PALB2 (L337S)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 126780	NM_024675.4(PALB2):c.925A>G (p.Ile309Val)	PALB2 (I309V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +6 more	GBenign/Likely benign
Select item 126770	NM_024675.4(PALB2):c.765T>C (p.Asp255=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia +7 more	GBenign/Likely benign
Select item 126765	NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)	PALB2 (N241D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 126761	NM_024675.4(PALB2):c.629C>T (p.Pro210Leu)	PALB2 (P210L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +11 more	GPathogenic
Select item 480271	NM_024675.4(PALB2):c.364G>A (p.Asp122Asn)	PALB2 (D122N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 126635	NM_024675.4(PALB2):c.212-58A>C	PALB2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 126758	NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)	PALB2 (K18R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
Select item 142432	NM_024675.4(PALB2):c.18G>T (p.Gly6=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 126578	NM_024675.4(PALB2):c.-47G>A	PALB2	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign

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Items: 40