ClinVar for MedGen (Select 325420) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062039	NM_000059.4(BRCA2):c.4125_4138del (p.Glu1375fs)	BRCA2 (E1375fs)	Deletion (frameshift variant +2 more)	Fanconi anemia complementation group D1 +1 more	GPathogenic
Select item 1706564	NM_000059.4(BRCA2):c.658dup (p.Val220fs)	BRCA2 (V220fs)	Duplication (frameshift variant)	Fanconi anemia complementation group D1	GPathogenic
Select item 1456139	NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)	BRCA2 (L1598fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +8 more	GPathogenic
Select item 1332800	NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)	BRCA2 (L1578*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group D1 +1 more	GPathogenic/Likely pathogenic
Select item 1171246	NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)	BRCA2 (E1812K)	Single nucleotide variant (missense variant)	Medulloblastoma +8 more	GConflicting classifications of pathogenicity
Select item 949451	NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)	BRCA2 (M1272I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 884015	NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)	BRCA2 (F62L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 883704	NM_000059.4(BRCA2):c.*623C>T	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 883272	NM_000059.4(BRCA2):c.844C>G (p.His282Asp)	BRCA2 (H282D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 883271	NM_000059.4(BRCA2):c.632-3C>T	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 882430	NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)	BRCA2 (M408I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 882070	NC_000013.11:g.32315487G>T	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Fanconi anemia complementation group D1 +4 more	GConflicting classifications of pathogenicity
Select item 881706	NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)	BRCA2 (K3254E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 881309	NM_000059.4(BRCA2):c.*271C>A	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 881308	NM_000059.4(BRCA2):c.*134C>T	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 823246	NM_000059.4(BRCA2):c.942A>G (p.Lys314=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 663831	NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)	BRCA2 (D750V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +9 more	GConflicting classifications of pathogenicity
Select item 645189	NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)	BRCA2 (N1596fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 643446	NM_000059.4(BRCA2):c.-40+2T>C	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group D1 +2 more	GConflicting classifications of pathogenicity
Select item 632715	NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)	BRCA2 (S1437T)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 629768	NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)	BRCA2	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group D1 +3 more	GConflicting classifications of pathogenicity
Select item 623177	NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)	BRCA2 (S1818*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 576367	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2 (L204fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +10 more	GPathogenic/Likely pathogenic
Select item 570422	NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)	BRCA2 (G1007V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 569483	NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)	BRCA2 (I210V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GUncertain significance
Select item 559592	NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)	BRCA2 (L3232fs)	Deletion (frameshift variant)	Fanconi anemia complementation group D1	GPathogenic
Select item 549717	NM_000059.4(BRCA2):c.7163C>T (p.Thr2388Ile)	BRCA2 (T2388I)	Single nucleotide variant (missense variant)	Familial cancer of breast +8 more	GUncertain significance
Select item 531429	NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)	BRCA2 (K1108T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +2 more	GConflicting classifications of pathogenicity
Select item 531316	NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)	BRCA2 (F506S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 531308	NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)	BRCA2 (L1466I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 491326	NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)	BRCA2	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 481607	NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)	BRCA2 (V2818F)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 481559	NM_000059.4(BRCA2):c.9295A>G (p.Asn3099Asp)	BRCA2 (N3099D)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GUncertain significance
Select item 481515	NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)	BRCA2 (E866K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 462490	NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)	BRCA2 (T2891R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 462460	NM_000059.4(BRCA2):c.7954G>A (p.Val2652Met)	BRCA2 (V2652M)	Single nucleotide variant (missense variant)	not specified +11 more	GUncertain significance
Select item 462394	NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)	BRCA2 (T1980P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 462246	NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)	BRCA2 (D635E)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 441448	NM_000059.4(BRCA2):c.7693G>A (p.Glu2565Lys)	BRCA2 (E2565K)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 441322	NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)	BRCA2 (D1868N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
Select item 438975	NM_000059.4(BRCA2):c.-40+7G>T	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 427494	NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 427477	NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 421342	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 409549	NM_000059.4(BRCA2):c.6530T>C (p.Ile2177Thr)	BRCA2 (I2177T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 385943	NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=)	BRCA2	Single nucleotide variant (synonymous variant)	Hereditary breast ovarian cancer syndrome +10 more	GLikely benign
Select item 311677	NM_000059.4(BRCA2):c.*854T>C	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 311676	NM_000059.4(BRCA2):c.*839T>C	BRCA2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GLikely benign
Select item 311675	NM_000059.4(BRCA2):c.*753C>T	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 311674	NM_000059.4(BRCA2):c.*696G>A	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 311672	NM_000059.4(BRCA2):c.*545T>C	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 311670	NM_000059.4(BRCA2):c.*399T>C	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 311669	NM_000059.4(BRCA2):c.*382A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GLikely benign
Select item 311666	NM_000059.4(BRCA2):c.*292A>C	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 311665	NM_000059.4(BRCA2):c.*248T>C	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GLikely benign
Select item 311664	NM_000059.4(BRCA2):c.*172G>A	BRCA2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 311663	NM_000059.4(BRCA2):c.*50A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Fanconi anemia complementation group D1 +1 more	GUncertain significance
Select item 311662	NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)	BRCA2 (K1139Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 311660	NM_000059.4(BRCA2):c.561G>A (p.Glu187=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 311659	NM_000059.3(BRCA2):c.-210A>G	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GUncertain significance
Select item 279706	NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)	BRCA2 (S2705G)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +4 more	GConflicting classifications of pathogenicity
Select item 267696	NM_000059.4(BRCA2):c.8332-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +7 more	GPathogenic
Select item 264893	NM_000059.4(BRCA2):c.*841A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 264869	NM_000059.4(BRCA2):c.*842A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 254630	NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)	BRCA2 (K3083fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 254605	NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter)	BRCA2 (D2489*)	Insertion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 236846	NM_000059.4(BRCA2):c.316+13A>G	BRCA2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 234734	NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg)	BRCA2 (Q2345R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +2 more	GUncertain significance
Select item 234566	NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)	BRCA2 (N802S)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +10 more	GConflicting classifications of pathogenicity
Select item 234503	NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)	BRCA2 (N1742I)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 234138	NM_000059.4(BRCA2):c.7781A>G (p.Lys2594Arg)	BRCA2 (K2594R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +10 more	GUncertain significance
Select item 233784	NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)	BRCA2 (V1756E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +4 more	GConflicting classifications of pathogenicity
Select item 233535	NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)	BRCA2 (M1149I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 233187	NM_000059.4(BRCA2):c.7360A>T (p.Ile2454Phe)	BRCA2 (I2454F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +10 more	GUncertain significance
Select item 233024	NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)	BRCA2 (K169Q)	Single nucleotide variant (missense variant)	Wilms tumor 1 +9 more	GUncertain significance
Select item 232197	NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)	BRCA2 (H2116L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 231812	NM_000059.4(BRCA2):c.8331+3A>C	BRCA2	Single nucleotide variant (intron variant)	Wilms tumor 1 +11 more	GUncertain significance
Select item 231555	NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)	BRCA2 (E2476del)	Microsatellite (inframe_deletion)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 231512	NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)	BRCA2 (T1609A)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +11 more	GConflicting classifications of pathogenicity
Select item 231069	NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)	BRCA2 (V1270I)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 230864	NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)	BRCA2 (E425G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +3 more	GConflicting classifications of pathogenicity
Select item 230489	NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)	BRCA2 (E2844K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +4 more	GConflicting classifications of pathogenicity
Select item 230066	NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly)	BRCA2 (E3177G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GUncertain significance
Select item 229735	NM_000059.4(BRCA2):c.6030C>A (p.Val2010=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 219757	NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 216855	NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)	BRCA2 (F1506fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 216247	NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)	BRCA2 (I1664T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +3 more	GConflicting classifications of pathogenicity
Select item 215626	NM_000059.4(BRCA2):c.909T>G (p.Ser303=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 215608	NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 209928	NM_000059.4(BRCA2):c.*532A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209927	NM_000059.4(BRCA2):c.*397C>A	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209926	NM_000059.4(BRCA2):c.*390A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209924	NM_000059.4(BRCA2):c.*369A>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209923	NM_000059.4(BRCA2):c.*295C>G	BRCA2	Single nucleotide variant (3 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209600	NM_000059.4(BRCA2):c.-52A>G	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 209599	NM_000059.4(BRCA2):c.-175C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 187721	NM_000059.4(BRCA2):c.3495T>C (p.His1165=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 187437	NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)	BRCA2 (L428I)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 187129	NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)	BRCA2 (S744L)	Single nucleotide variant (missense variant)	Familial cancer of breast +10 more	GConflicting classifications of pathogenicity
Select item 187127	NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)	BRCA2 (V1639fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

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