"PALB2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	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 183868	NM_024675.4(PALB2):c.3525A>G (p.Gln1175=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 128142	NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)	PALB2 (P1153fs)	Duplication (frameshift variant)	PALB2-related disorder +4 more	GPathogenic
Select item 571430	NM_024675.4(PALB2):c.3433G>T (p.Gly1145Cys)	PALB2 (G1145C)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 415976	NM_024675.4(PALB2):c.3432C>T (p.Leu1144=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +6 more	GLikely benign
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 220669	NM_024675.4(PALB2):c.3373G>T (p.Asp1125Tyr)	PALB2 (D1125Y)	Single nucleotide variant (missense variant)	PALB2-related disorder +3 more	GUncertain significance
Select item 136137	NM_024675.4(PALB2):c.3366C>T (p.Asp1122=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 126737	NM_024675.4(PALB2):c.3350+4A>G	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 184415	NM_024675.4(PALB2):c.3297G>A (p.Thr1099=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 410162	NM_024675.4(PALB2):c.3296C>T (p.Thr1099Met)	PALB2 (T1099M)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GUncertain significance
Select item 3032310	NM_024675.4(PALB2):c.3291T>G (p.Pro1097=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	PALB2-related disorder	GLikely benign
Select item 229871	NM_024675.4(PALB2):c.3276C>T (p.Leu1092=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 126726	NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp)	PALB2 (E1083D)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 265368	NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)	PALB2	Microsatellite (nonsense)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic
Select item 187105	NM_024675.4(PALB2):c.3204G>A (p.Gly1068=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 141785	NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr)	PALB2 (M1049T)	Single nucleotide variant (missense variant)	PALB2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 460977	NM_024675.4(PALB2):c.3132A>T (p.Gln1044His)	PALB2 (Q1044H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 419928	NM_024675.4(PALB2):c.3025C>T (p.Pro1009Ser)	PALB2 (P1009S)	Single nucleotide variant (missense variant)	PALB2-related disorder +5 more	GUncertain significance
Select item 246286	NM_024675.4(PALB2):c.2996+5G>T	PALB2	Single nucleotide variant (intron variant)	PALB2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 188163	NM_024675.4(PALB2):c.2835-1G>A	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	PALB2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 126683	NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)	PALB2 (L939W)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 182742	NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)	PALB2	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 230867	NM_024675.4(PALB2):c.2673C>T (p.Cys891=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 136135	NM_024675.4(PALB2):c.2607C>T (p.Ser869=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +5 more	GBenign/Likely benign
Select item 128133	NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)	PALB2 (E837K)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 241545	NM_024675.4(PALB2):c.2508C>T (p.Val836=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +3 more	GLikely benign
Select item 187271	NM_024675.4(PALB2):c.2508C>G (p.Val836=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 185041	NM_024675.4(PALB2):c.2478C>T (p.Asn826=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 220617	NM_024675.4(PALB2):c.2469C>G (p.Leu823=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +3 more	GBenign/Likely benign
Select item 574699	NM_024675.4(PALB2):c.2458G>A (p.Glu820Lys)	PALB2 (E820K)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 410141	NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)	PALB2 (I813T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 460941	NM_024675.4(PALB2):c.2418G>T (p.Pro806=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 128130	NM_024675.4(PALB2):c.2379C>T (p.Gly793=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 186458	NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)	PALB2 (S779*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 232803	NM_024675.4(PALB2):c.2325dup (p.Phe776fs)	PALB2 (F776fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 136133	NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)	PALB2 (L763F)	Single nucleotide variant (missense variant)	PALB2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 185872	NM_024675.4(PALB2):c.2277A>G (p.Gln759=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 577747	NM_024675.4(PALB2):c.2273C>T (p.Pro758Leu)	PALB2 (P758L)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 232654	NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser)	PALB2 (N716S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 126638	NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)	PALB2 (D715fs)	Deletion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 182765	NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala)	PALB2 (T710A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 184830	NM_024675.4(PALB2):c.2100A>T (p.Ser700=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 136131	NM_024675.4(PALB2):c.2087C>T (p.Thr696Met)	PALB2 (T696M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 183889	NM_024675.4(PALB2):c.2082A>G (p.Thr694=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 185889	NM_024675.4(PALB2):c.2067G>A (p.Ser689=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 241537	NM_024675.4(PALB2):c.2066C>T (p.Ser689Leu)	PALB2 (S689L)	Single nucleotide variant (missense variant)	PALB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 80060	NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys)	PALB2 (R686K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 221122	NM_024675.4(PALB2):c.2031T>C (p.Val677=)	PALB2	Single nucleotide variant (synonymous variant)	PALB2-related disorder +4 more	GLikely benign
Select item 630507	NM_024675.4(PALB2):c.1958G>T (p.Cys653Phe)	PALB2 (C653F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 126627	NM_024675.4(PALB2):c.1935G>A (p.Glu645=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +7 more	GBenign/Likely benign
Select item 219588	NM_024675.4(PALB2):c.1794G>A (p.Leu598=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast	GLikely benign FDA Recognized database
Select item 460911	NM_024675.4(PALB2):c.1785T>C (p.Asp595=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 230075	NM_024675.4(PALB2):c.1767G>A (p.Thr589=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126624	NM_024675.4(PALB2):c.1743A>G (p.Leu581=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GLikely benign
Select item 231775	NM_024675.4(PALB2):c.1702C>A (p.Gln568Lys)	PALB2 (Q568K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 126622	NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)	PALB2 (H567Y)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 486021	NM_024675.4(PALB2):c.1698T>C (p.Arg566=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GLikely benign
Select item 128122	NM_024675.4(PALB2):c.1697G>A (p.Arg566His)	PALB2 (R566H)	Single nucleotide variant (missense variant)	PALB2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 449968	NM_024675.4(PALB2):c.1685-2A>G	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 126611	NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)	PALB2 (E545*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 182791	NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)	PALB2 (S537L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +4 more	GConflicting classifications of pathogenicity
Select item 183798	NM_024675.4(PALB2):c.1599T>C (p.Thr533=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 126607	NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)	PALB2 (K515R)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 182789	NM_024675.4(PALB2):c.1471G>C (p.Ala491Pro)	PALB2 (A491P)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GConflicting classifications of pathogenicity
Select item 126602	NM_024675.4(PALB2):c.1431C>T (p.Thr477=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 460892	NM_024675.4(PALB2):c.1398T>G (p.Ser466=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 216742	NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)	PALB2 (D446V)	Single nucleotide variant (missense variant)	PALB2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 184531	NM_024675.4(PALB2):c.1311A>G (p.Lys437=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 187458	NM_024675.4(PALB2):c.1273G>A (p.Val425Met)	PALB2 (V425M)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 128117	NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)	PALB2 (R414*)	Single nucleotide variant (nonsense)	PALB2-related disorder +7 more	GPathogenic
Select item 410151	NM_024675.4(PALB2):c.1213C>G (p.Pro405Ala)	PALB2 (P405A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 410195	NM_024675.4(PALB2):c.1212T>G (p.Phe404Leu)	PALB2 (F404L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 185365	NM_024675.4(PALB2):c.1097A>G (p.Asn366Ser)	PALB2 (N366S)	Single nucleotide variant (missense variant)	PALB2-related disorder +2 more	GUncertain significance
Select item 232989	NM_024675.4(PALB2):c.1020T>C (p.Asn340=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 126581	NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)	PALB2 (Y334C)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 481119	NM_024675.4(PALB2):c.936T>C (p.Ser312=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 128149	NM_024675.4(PALB2):c.928A>G (p.Ser310Gly)	PALB2 (S310G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 187401	NM_024675.4(PALB2):c.900A>G (p.Thr300=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 480243	NM_024675.4(PALB2):c.839del (p.Asn280fs)	PALB2 (N280fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 134992	NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His)	PALB2 (L278H)	Indel (missense variant)	PALB2-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 230252	NM_024675.4(PALB2):c.831C>T (p.Asp277=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 136139	NM_024675.4(PALB2):c.769G>A (p.Gly257Ser)	PALB2 (G257S)	Single nucleotide variant (missense variant)	PALB2-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 184338	NM_024675.4(PALB2):c.768C>T (p.Ser256=)	PALB2	Single nucleotide variant (synonymous variant)	Breast and/or ovarian cancer +5 more	GBenign/Likely benign
Select item 1044990	NM_024675.4(PALB2):c.766A>G (p.Ser256Gly)	PALB2 (S256G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 126770	NM_024675.4(PALB2):c.765T>C (p.Asp255=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +7 more	GBenign/Likely benign
Select item 126763	NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)	PALB2 (D219G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 182785	NM_024675.4(PALB2):c.587G>A (p.Arg196Lys)	PALB2 (R196K)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	not specified +11 more	GPathogenic
Select item 186083	NM_024675.4(PALB2):c.423G>A (p.Gln141=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 185066	NM_024675.4(PALB2):c.372C>T (p.Thr124=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
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 187567	NM_024675.4(PALB2):c.339A>C (p.Pro113=)	PALB2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 484167	NM_024675.4(PALB2):c.336C>T (p.Gly112=)	PALB2	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GLikely benign
Select item 126718	NM_024675.4(PALB2):c.315G>C (p.Glu105Asp)	PALB2 (E105D)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 126698	NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	PALB2 (L100F)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 389287	NM_024675.4(PALB2):c.249C>T (p.His83=)	PALB2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
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 184751	NM_024675.4(PALB2):c.195G>A (p.Pro65=)	PALB2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign

<< First< Prev

Page of 2