"Center for Precision Medicine, Meizhou People's Hospital"[submitter] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 187296	NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala)	BRCA2 (G4A)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 51508	NM_000059.4(BRCA2):c.36del (p.Phe12fs)	BRCA2 (F12fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51251	NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser)	BRCA2 (N72S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 823201	NM_000059.4(BRCA2):c.320G>C (p.Arg107Thr)	BRCA2 (R107T)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 51430	NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	BRCA2 (N108S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +6 more	GConflicting classifications of pathogenicity
Select item 51644	NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	BRCA2 (Q147R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1687142	NM_000059.4(BRCA2):c.684del (p.Asn228fs)	BRCA2 (N228fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 38103	NM_000059.4(BRCA2):c.755_758del (p.Asp252fs)	BRCA2 (D252fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38241	NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	BRCA2	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 37727	NM_000059.4(BRCA2):c.1166C>T (p.Pro389Leu)	BRCA2 (P389L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1687143	NM_000059.4(BRCA2):c.1282del (p.Leu428fs)	BRCA2 (L428fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1687144	NM_000059.4(BRCA2):c.1313A>T (p.Asp438Val)	BRCA2 (D438V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 632703	NM_000059.4(BRCA2):c.1378A>C (p.Asn460His)	BRCA2 (N460H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 51139	NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	BRCA2 (E510*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96766	NM_000059.4(BRCA2):c.1568A>G (p.His523Arg)	BRCA2 (H523R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +7 more	GConflicting classifications of pathogenicity
Select item 141498	NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)	BRCA2 (N556D)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 482997	NM_000059.4(BRCA2):c.1732G>C (p.Gly578Arg)	BRCA2 (G578R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37753	NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)	BRCA2 (T582P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141070	NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)	BRCA2 (S780*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41544	NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)	BRCA2 (M784V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 441305	NM_000059.4(BRCA2):c.2444T>C (p.Met815Thr)	BRCA2 (M815T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1687120	NM_000059.4(BRCA2):c.2551_2555del (p.Phe851fs)	BRCA2 (F851fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 216241	NM_000059.4(BRCA2):c.2671G>C (p.Val891Leu)	BRCA2 (V891L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 91785	NM_000059.4(BRCA2):c.2758C>T (p.Pro920Ser)	BRCA2 (P920S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 142931	NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn)	BRCA2 (D974N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37810	NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)	BRCA2 (I982M)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 628303	NM_000059.4(BRCA2):c.3068A>C (p.Asn1023Thr)	BRCA2 (N1023T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37819	NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)	BRCA2 (Q1037*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252826	NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser)	BRCA2 (N1066S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 491235	NM_000059.4(BRCA2):c.3220A>T (p.Ser1074Cys)	BRCA2 (S1074C)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1687121	NM_000059.4(BRCA2):c.3233T>G (p.Val1078Gly)	BRCA2 (V1078G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1687122	NM_000059.4(BRCA2):c.3253C>T (p.His1085Tyr)	BRCA2 (H1085Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 51465	NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)	BRCA2 (M1149V)	Single nucleotide variant (missense variant)	Carcinoma of esophagus +7 more	GBenign/Likely benign
Select item 220061	NM_000059.4(BRCA2):c.3540G>C (p.Lys1180Asn)	BRCA2 (K1180N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1070128	NM_000059.4(BRCA2):c.3716_3717del (p.Lys1239fs)	BRCA2 (K1239fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 37862	NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 409510	NM_000059.4(BRCA2):c.4085A>G (p.His1362Arg)	BRCA2 (H1362R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 462335	NM_000059.4(BRCA2):c.4277C>T (p.Thr1426Ile)	BRCA2 (T1426I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 51636	NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr)	BRCA2 (H1458Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 37898	NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser)	BRCA2 (N1459S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +7 more	GConflicting classifications of pathogenicity
Select item 481533	NM_000059.4(BRCA2):c.4430T>C (p.Ile1477Thr)	BRCA2 (I1477T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GConflicting classifications of pathogenicity
Select item 51659	NM_000059.4(BRCA2):c.4525C>T (p.Gln1509Ter)	BRCA2 (Q1509*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 431191	NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro)	BRCA2 (H1525P)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1687123	NM_000059.4(BRCA2):c.4679G>A (p.Ser1560Asn)	BRCA2 (S1560N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GConflicting classifications of pathogenicity
Select item 580612	NM_000059.4(BRCA2):c.4712A>T (p.Glu1571Val)	BRCA2 (E1571V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1687124	NM_000059.4(BRCA2):c.4790del (p.Ser1597fs)	BRCA2 (S1597fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 51791	NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1687125	NM_000059.4(BRCA2):c.5165G>C (p.Ser1722Thr)	BRCA2 (S1722T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1687126	NM_000059.4(BRCA2):c.5242del (p.Ser1748fs)	BRCA2 (S1748fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 1687127	NM_000059.4(BRCA2):c.5467A>T (p.Lys1823Ter)	BRCA2 (K1823*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 224465	NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe)	BRCA2 (L1829F)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 825810	NM_000059.4(BRCA2):c.5534G>A (p.Arg1845Lys)	BRCA2 (R1845K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37975	NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	BRCA2 (I1859fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 638886	NM_000059.4(BRCA2):c.5624A>C (p.Lys1875Thr)	BRCA2 (K1875T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37997	NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)	BRCA2 (I1929V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51948	NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro)	BRCA2 (S1946P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51950	NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser)	BRCA2 (P1947S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 188433	NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr)	BRCA2 (S2006T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 52010	NM_000059.4(BRCA2):c.6096dup (p.Ile2033fs)	BRCA2 (I2033fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 479374	NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr)	BRCA2 (S2041T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 52019	NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile)	BRCA2 (V2050I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GConflicting classifications of pathogenicity
Select item 1044690	NM_000059.4(BRCA2):c.6307T>C (p.Ser2103Pro)	BRCA2 (S2103P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 41559	NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys)	BRCA2 (R2108C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 41560	NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile)	BRCA2 (V2109I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1377579	NM_000059.4(BRCA2):c.6582del (p.Ile2194fs)	BRCA2 (I2194fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 219680	NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe)	BRCA2 (S2213F)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 632716	NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr)	BRCA2 (I2297T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1499542	NM_000059.4(BRCA2):c.6941C>T (p.Thr2314Ile)	BRCA2 (T2314I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GUncertain significance
Select item 38081	NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)	BRCA2 (A2351G)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GBenign/Likely benign
Select item 52265	NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys)	BRCA2 (Y2363C)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GUncertain significance
Select item 38084	NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val)	BRCA2 (L2368V)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 1687129	NM_000059.4(BRCA2):c.7284G>C (p.Leu2428Phe)	BRCA2 (L2428F)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 96852	NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr)	BRCA2 (I2490T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 462441	NM_000059.4(BRCA2):c.7488G>C (p.Lys2496Asn)	BRCA2 (K2496N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 52347	NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)	BRCA2 (G2508S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +8 more	GConflicting classifications of pathogenicity
Select item 52353	NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter)	BRCA2 (R2520*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52373	NM_000059.4(BRCA2):c.7631G>A (p.Gly2544Asp)	BRCA2 (G2544D)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 419030	NM_000059.4(BRCA2):c.7670C>T (p.Ala2557Val)	BRCA2 (A2557V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 958262	NM_000059.4(BRCA2):c.7900A>G (p.Met2634Val)	BRCA2 (M2634V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1687130	NM_000059.4(BRCA2):c.7909G>C (p.Ala2637Pro)	BRCA2 (A2637P)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 52503	NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn)	BRCA2 (S2697N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 38142	NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	BRCA2 (K2729N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 38154	NM_000059.4(BRCA2):c.8331+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 409445	NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del)	BRCA2 (S2807del)	Microsatellite (inframe_deletion)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GUncertain significance
Select item 188108	NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His)	BRCA2 (Y2839H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 91730	NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys)	BRCA2 (E2878K)	Single nucleotide variant (missense variant)	Breast neoplasm +2 more	GPathogenic/Likely pathogenic
Select item 38180	NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)	BRCA2 (G2901D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GBenign/Likely benign
Select item 267712	NM_000059.4(BRCA2):c.8954-5A>G	BRCA2	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1687132	NM_000059.4(BRCA2):c.9073_9078del (p.Ile3025_Gln3026del)	BRCA2	Deletion (inframe_deletion)	Familial cancer of breast	GPathogenic
Select item 38212	NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)	BRCA2 (Q3036E)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 38239	NM_000059.4(BRCA2):c.9401del (p.Gly3134fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52910	NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)	BRCA2 (P3292L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51049	NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)	BRCA2 (R3384*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 41540	NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val)	BRCA2 (I3412V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign

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Items: 99