ClinVar (all) for Orgtrack (Select 505793) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 460972	NM_024675.4(PALB2):c.2959_2966dup (p.Glu990fs)	PALB2 (E990fs)	Duplication (frameshift variant)	Familial cancer of breast	GPathogenic/Likely pathogenic
Select item 225864	NM_024675.4(PALB2):c.2484C>T (p.Cys828=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely 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 225862	NM_024675.4(PALB2):c.2091C>A (p.Gly697=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 225861	NM_024675.4(PALB2):c.1194G>T (p.Val398=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +1 more	GLikely benign
Select item 225860	NM_024675.3:c.3495T>G	PALB2	Single nucleotide variant	Familial cancer of breast	GLikely benign
Select item 225859	NM_024675.4(PALB2):c.3294G>A (p.Lys1098=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign
Select item 225858	NM_024675.4(PALB2):c.1242A>C (p.Arg414=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 225857	NM_024675.4(PALB2):c.3366C>A (p.Asp1122Glu)	PALB2 (D1122E)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 225856	NM_024675.4(PALB2):c.2755G>A (p.Val919Ile)	PALB2 (V919I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 225855	NM_024675.4(PALB2):c.2606C>G (p.Ser869Cys)	PALB2 (S869C)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 225854	NM_024675.4(PALB2):c.1931G>A (p.Gly644Glu)	PALB2 (G644E)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GUncertain significance
Select item 225853	NM_024675.4(PALB2):c.1478C>T (p.Pro493Leu)	PALB2 (P493L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 225852	NM_024675.4(PALB2):c.1085T>C (p.Leu362Pro)	PALB2 (L362P)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 225850	NM_024675.4(PALB2):c.1947_1966dup (p.Pro656fs)	PALB2 (P656fs)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 225849	NM_024675.4(PALB2):c.693dup (p.Gly232fs)	PALB2 (G232fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 225848	NM_024675.4(PALB2):c.577dup (p.Thr193fs)	PALB2 (T193fs)	Duplication (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 225847	NM_024675.4(PALB2):c.522_523del (p.Arg175fs)	PALB2 (R175fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 224539	NM_024675.4(PALB2):c.2391del (p.Gln797fs)	PALB2 (Q797fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 220654	NM_024675.4(PALB2):c.508A>G (p.Arg170Gly)	PALB2 (R170G)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 219897	NM_024675.4(PALB2):c.860dup (p.Ser288fs)	PALB2 (S288fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 216755	NM_024675.4(PALB2):c.3448C>T (p.Leu1150Phe)	PALB2 (L1150F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 216745	NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)	PALB2 (T787I)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 188131	NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu)	PALB2 (V1036L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 185889	NM_024675.4(PALB2):c.2067G>A (p.Ser689=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 185518	NM_024675.4(PALB2):c.3367G>A (p.Val1123Met)	PALB2 (V1123M)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 185041	NM_024675.4(PALB2):c.2478C>T (p.Asn826=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related condition +3 more	GBenign/Likely benign
Select item 184735	NM_024675.4(PALB2):c.2337A>C (p.Ser779=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 184708	NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys)	PALB2 (Y743C)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +6 more	GConflicting classifications of pathogenicity
Select item 184338	NM_024675.4(PALB2):c.768C>T (p.Ser256=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 183967	NM_024675.4(PALB2):c.2244A>G (p.Thr748=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 183889	NM_024675.4(PALB2):c.2082A>G (p.Thr694=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 183745	NM_024675.4(PALB2):c.1623G>A (p.Arg541=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 182791	NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)	PALB2 (S537L)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 182790	NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr)	PALB2 (D498Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182764	NM_024675.4(PALB2):c.2106A>G (p.Ile702Met)	PALB2 (I702M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 142706	NM_024675.4(PALB2):c.740C>G (p.Thr247Arg)	PALB2 (T247R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 142048	NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)	PALB2 (T397S)	Single nucleotide variant (missense variant)	Familial ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 141993	NM_024675.4(PALB2):c.557A>T (p.Asn186Ile)	PALB2 (N186I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +5 more	GConflicting classifications of pathogenicity
Select item 141936	NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg)	PALB2 (L1150R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141785	NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	PALB2 (M1049T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 5 +7 more	GConflicting classifications of pathogenicity
Select item 141063	NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu)	PALB2 (P806L)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 140978	NM_024675.4(PALB2):c.3507_3508del (p.His1170fs)	PALB2 (H1170fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group N +5 more	GPathogenic/Likely pathogenic
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 136133	NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)	PALB2 (L763F)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 136128	NM_024675.4(PALB2):c.12T>C (p.Pro4=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 136126	NM_024675.4(PALB2):c.1188C>T (p.Cys396=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 128146	NM_024675.4(PALB2):c.571C>G (p.Pro191Ala)	PALB2 (P191A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128143	NM_024675.4(PALB2):c.353T>C (p.Ile118Thr)	PALB2 (I118T)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 128130	NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
Select item 128124	NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)	PALB2 (P65L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 126781	NM_024675.4(PALB2):c.94C>G (p.Leu32Val)	PALB2 (L32V)	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 126777	NM_024675.4(PALB2):c.899C>T (p.Thr300Ile)	PALB2 (T300I)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 126769	NM_024675.4(PALB2):c.758dup (p.Ser254fs)	PALB2 (S254fs)	Duplication (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 126763	NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)	PALB2 (D219G)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
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 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 126749	NM_024675.4(PALB2):c.400G>A (p.Asp134Asn)	PALB2 (D134N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126743	NM_024675.4(PALB2):c.344G>T (p.Gly115Val)	PALB2 (G115V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 126739	NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	PALB2	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 126732	NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)	PALB2 (V1103M)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
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 126729	NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)	PALB2 (R1086*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 5 +9 more	GPathogenic/Likely pathogenic
Select item 126716	NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala)	PALB2 (G1043A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 126715	NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	PALB2	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +6 more	GPathogenic/Likely pathogenic
Select item 126711	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	PALB2 (W1038*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 126708	NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp)	PALB2 (E1018D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
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 126698	NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	PALB2 (L100F)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +6 more	GConflicting classifications of pathogenicity
Select item 126697	NM_024675.4(PALB2):c.2982dup (p.Ala995fs)	PALB2 (A995fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 126672	NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	PALB2 (E892K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +4 more	GConflicting classifications of pathogenicity
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 126649	NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	PALB2 (G796*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 126647	NM_024675.4(PALB2):c.232G>A (p.Val78Ile)	PALB2 (V78I)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 126640	NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser)	PALB2 (T734S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 126629	NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)	PALB2 (Q66*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 126628	NM_024675.4(PALB2):c.1947dup (p.Glu650fs)	PALB2 (E650fs)	Duplication (frameshift variant)	Breast and/or ovarian cancer +2 more	GPathogenic/Likely pathogenic
Select item 126623	NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	PALB2 (Q60fs)	Microsatellite (frameshift variant)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 126622	NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)	PALB2 (H567Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
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 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 126607	NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)	PALB2 (K515R)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 126604	NM_024675.4(PALB2):c.1470C>T (p.Pro490=)	PALB2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group N +6 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 126595	NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)	PALB2 (S417Y)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 126593	NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)	PALB2 (P4L)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
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 126591	NM_024675.4(PALB2):c.1145G>T (p.Ser382Ile)	PALB2 (S382I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 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 1245	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic

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Items: 96