Related gene-specific medical variations for Gene (Select 675) - 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)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 2865755	NM_000059.4(BRCA2):c.-59G>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2829868	NM_000059.4(BRCA2):c.-40+4_-40+6del	BRCA2, LOC106721785	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2822681	NM_000059.4(BRCA2):c.-60A>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2761421	NM_000059.4(BRCA2):c.-143_-142insCGTCTTTTAGCATACAGGTCTTGTGCAGCTTTTATCAGATTTCTTCCTCTAAGTCTTGATACTTTTTTTTTTTTTAATAATACTTTAAGTTCCGCAATACATGTGCAGAACCTGCAGGTTTGTTACATAGGTATACACGTGCCATGGTGGTTTGCTACACCCATCAACCTGTCATCTACATTAGATATTTCTCCTAATGCTATCCCTTCCCTAGCCCCCCATCCCCCAATAGCCCCCGGTGTGTGATGTTCCCTGCCCTGTGTCCACGTGTTCTCATTGTTCAACTCCCACTTATCAGTGAGAACACGCGGTGTTTGTTTTTCTGTTCTCGTGTTATTTTTCTGAGAATGATATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATTCTTTTTTATGGCCACATAGTATTCTGTGGTGTATATGGGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGGTAGGTTCCAAGTCTTTGCTAATTTTGAAATTATCATTTCACAGCTTAATTTCTGATGGTTCCTTGCTAGTATTTAGAAATACAATTGATTTTTTTATGTTGATCTTAAAAAATTGCAAGCTTACCTATCTTGTTTATTAGATCTAGTAACTTATTTGTAGATTCCATTGGGTTTTCTACAAATAGACTCATGTTGCCTAAGAATAAAGGCTTACTTTTTTCCCACTATGAATCCTTTTTATTTGTATTTTTTTCCTTGCCTTATTGCACTGGCTAGAATCTAAAGTATAATGTTGAACAGACATGGTGAGAGCAGATATTCTTACAACTGACCCACACTTAGGTTTGTGGAGAAAGCACTCAGTCTTTCACCATTAAGTATGTTAACTGTACTTAGTTAACTGTAGGGC	BRCA2, LOC106721785	Insertion (non-coding transcript variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2748055	NM_000059.4(BRCA2):c.-40+15T>C	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2738444	NM_000059.4(BRCA2):c.-40+2T>A	BRCA2, LOC106721785	Single nucleotide variant (splice donor variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2733506	NM_000059.4(BRCA2):c.-45G>T	LOC106721785, BRCA2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2731294	NM_000059.4(BRCA2):c.-40+17G>C	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2715935	NM_000059.4(BRCA2):c.-40+5G>C	BRCA2, LOC106721785	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2700378	NM_000059.4(BRCA2):c.-48C>T	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2690994	NM_000059.4(BRCA2):c.7288G>T (p.Glu2430Ter)	BRCA2 (E2398* +3 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of breast	GLikely pathogenic
Select item 2688678	NM_000059.4(BRCA2):c.2057T>C (p.Leu686Pro)	BRCA2 (L686P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681848	NM_000059.4(BRCA2):c.9819_9821del (p.Phe3273del)	BRCA2 (F1134del +4 more)	Deletion (inframe_indel +2 more)	not provided	GUncertain significance
Select item 2681847	NM_000059.4(BRCA2):c.9502-41del	BRCA2	Deletion (intron variant)	not provided	GLikely benign
Select item 2681846	NM_000059.4(BRCA2):c.9471G>C (p.Glu3157Asp)	BRCA2 (E1018D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681844	NM_000059.4(BRCA2):c.8642C>G (p.Thr2881Arg)	BRCA2 (T1237R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681843	NM_000059.4(BRCA2):c.8633-36C>G	BRCA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2681842	NM_000059.4(BRCA2):c.8559A>C (p.Lys2853Asn)	BRCA2 (K1209N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681841	NM_000059.4(BRCA2):c.8373del (p.Lys2791fs)	BRCA2 (K1147fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2681840	NM_000059.4(BRCA2):c.8093C>T (p.Ala2698Val)	BRCA2 (A1054V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681839	NM_000059.4(BRCA2):c.7761C>G (p.Leu2587=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2681838	NM_000059.4(BRCA2):c.7692T>G (p.Thr2564=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2681836	NM_000059.4(BRCA2):c.7038T>C (p.Asn2346=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2681835	NM_000059.4(BRCA2):c.7013C>G (p.Thr2338Ser)	BRCA2 (T199S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2681832	NM_000059.4(BRCA2):c.6233G>C (p.Gly2078Ala)	BRCA2 (G2078A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681831	NM_000059.4(BRCA2):c.5897A>C (p.His1966Pro)	BRCA2 (H1966P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681830	NM_000059.4(BRCA2):c.5087del (p.Gly1696fs)	BRCA2 (G1696fs)	Deletion (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2681829	NM_000059.4(BRCA2):c.4867C>G (p.Gln1623Glu)	BRCA2 (Q1623E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681827	NM_000059.4(BRCA2):c.4272T>C (p.Ser1424=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2681826	NM_000059.4(BRCA2):c.4215T>A (p.Asn1405Lys)	BRCA2 (N1405K)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681825	NM_000059.4(BRCA2):c.4052A>C (p.Lys1351Thr)	BRCA2 (K1351T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681823	NM_000059.4(BRCA2):c.3198T>C (p.Asn1066=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2681821	NM_000059.4(BRCA2):c.2367A>G (p.Lys789=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2681820	NM_000059.4(BRCA2):c.1880C>A (p.Ala627Glu)	BRCA2 (A627E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2681819	NM_000059.4(BRCA2):c.1374A>T (p.Pro458=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2681818	NM_000059.4(BRCA2):c.1059A>T (p.Ser353=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2680305	NM_000059.4(BRCA2):c.6259del (p.Arg2087fs)	BRCA2 (R2087fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680303	NM_000059.4(BRCA2):c.1045A>T (p.Lys349Ter)	BRCA2 (K349*)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680302	NM_000059.4(BRCA2):c.7659del (p.Asn2553fs)	BRCA2 (N2521fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680301	NM_000059.4(BRCA2):c.9414_9417dup (p.Ala3140fs)	BRCA2 (A1001fs +4 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680300	NM_000059.4(BRCA2):c.7439T>A (p.Leu2480Ter)	BRCA2 (L2448* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680298	NM_000059.4(BRCA2):c.2515dup (p.Tyr839fs)	BRCA2 (Y839fs)	Duplication (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680297	NM_000059.4(BRCA2):c.2033_2036del (p.Asn678fs)	BRCA2 (N678fs)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680296	NM_000059.4(BRCA2):c.9409dup (p.Thr3137fs)	BRCA2 (T3137fs)	Duplication (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 2680295	NM_000059.4(BRCA2):c.1910-2A>C	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680294	NM_000059.4(BRCA2):c.6417_6418insT (p.Gly2140fs)	BRCA2 (G2140fs)	Insertion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680293	NM_000059.4(BRCA2):c.9252_9253del (p.Lys3084fs)	BRCA2 (K3084fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680292	NM_000059.4(BRCA2):c.9502-1G>C	BRCA2	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast	GLikely pathogenic
Select item 2680291	NM_000059.4(BRCA2):c.2872del (p.Ser958fs)	BRCA2 (S958fs)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680290	NM_000059.4(BRCA2):c.192_193insATTTT (p.Pro65fs)	BRCA2 (P65fs)	Insertion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680289	NM_000059.4:c.5007_5008insAlu	BRCA2	Insertion	Familial cancer of breast	GPathogenic
Select item 2680288	NM_000059.4(BRCA2):c.8917del (p.Arg2973fs)	BRCA2 (R1329fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680286	NM_000059.4(BRCA2):c.2973del (p.Asn991fs)	BRCA2 (N991fs)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680284	NM_000059.4(BRCA2):c.9569del (p.Lys3190fs)	BRCA2 (K1051fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680282	NM_000059.4(BRCA2):c.2390del (p.Lys797fs)	BRCA2 (K797fs)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680281	NM_000059.4(BRCA2):c.4688G>A (p.Trp1563Ter)	BRCA2 (W1563*)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680279	NM_000059.4(BRCA2):c.6972T>G (p.His2324Gln)	BRCA2 (H185Q +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680278	NM_000059.4(BRCA2):c.9628G>T (p.Gly3210Cys)	BRCA2 (G1071C +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680276	NM_000059.4(BRCA2):c.4068_4086dup (p.Asn1363delinsAlaIleTyrTer)	BRCA2	Duplication (nonsense +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680274	NM_000059.4(BRCA2):c.8633-1259A>G	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680272	NM_000059.4(BRCA2):c.9258_9262del (p.Leu3087fs)	BRCA2 (L1443fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680271	NM_000059.4(BRCA2):c.7514C>A (p.Pro2505Gln)	BRCA2 (P2473Q +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680270	NM_000059.4(BRCA2):c.6622_6623del (p.Asn2208fs)	BRCA2 (N2208fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic
Select item 2680269	NM_000059.4(BRCA2):c.5647A>G (p.Lys1883Glu)	BRCA2 (K1883E)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast	GUncertain significance
Select item 2680268	NM_000059.4(BRCA2):c.7284G>T (p.Leu2428Phe)	BRCA2 (L2396F +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680265	NM_000059.4(BRCA2):c.8074del (p.Asp2692fs)	BRCA2 (D1048fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680264	NM_000059.4(BRCA2):c.334_335dup (p.Ser112fs)	BRCA2 (S112fs)	Duplication (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680263	NM_000059.4(BRCA2):c.7525_7526delinsGACT (p.Ser2509fs)	BRCA2 (S2477fs +3 more)	Indel (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680262	NM_000059.4(BRCA2):c.3748del (p.Glu1250fs)	BRCA2 (E1250fs)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680260	NM_000059.4(BRCA2):c.6567_6574del (p.Val2190fs)	BRCA2 (V2190fs)	Deletion (frameshift variant +2 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680259	NM_000059.4(BRCA2):c.8396G>A (p.Arg2799Lys)	BRCA2 (R1155K +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680257	NM_000059.4(BRCA2):c.67+225G>A	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 2680255	NM_000059.4(BRCA2):c.9906G>C (p.Arg3302Ser)	BRCA2 (R1163S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680253	NM_000059.4(BRCA2):c.2517del (p.Lys838_Tyr839insTer)	BRCA2	Deletion (nonsense +2 more)	Familial cancer of breast	GPathogenic
Select item 2680250	NM_000059.4(BRCA2):c.9502A>T (p.Asn3168Tyr)	BRCA2 (N1029Y +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680248	NM_000059.4(BRCA2):c.-152T>C	BRCA2, LOC106721785	Single nucleotide variant (5 prime UTR variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680243	NM_000059.4(BRCA2):c.410C>T (p.Ser137Phe)	BRCA2 (S137F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680240	NM_000059.4(BRCA2):c.9221dup (p.Ile3075fs)	BRCA2 (I1431fs +4 more)	Duplication (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 2680239	NM_000059.4(BRCA2):c.9668A>G (p.Glu3223Gly)	BRCA2 (E1084G +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680238	NM_000059.4(BRCA2):c.8498A>C (p.Lys2833Thr)	BRCA2 (K1189T +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2680237	NM_000059.4(BRCA2):c.7125A>T (p.Leu2375Phe)	BRCA2 (L2343F +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 2664064	NM_000059.4(BRCA2):c.4117_4127delinsT (p.Phe1372_Met1373insTer)	BRCA2	Indel (intron variant +3 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2627040	NM_000059.4(BRCA2):c.6135_6139del (p.Phe2045fs)	BRCA2 (F2045fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2586297	NM_000059.3:c.5990_5991insL1	BRCA2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2586296	NM_000059.3:c.8814_8815insALU	BRCA2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2582745	NM_000059.4(BRCA2):c.7384T>C (p.Ser2462Pro)	BRCA2 (S2430P +3 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2582701	NM_000059.4(BRCA2):c.8977T>A (p.Ser2993Thr)	BRCA2 (S1349T +3 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 2575193	NM_000059.4(BRCA2):c.6492_6493insACT (p.Gln2164_Leu2165insThr)	BRCA2	Insertion (inframe_insertion +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575192	NM_000059.4(BRCA2):c.6490_6491del (p.Gln2164fs)	BRCA2 (Q2164fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575190	NM_000059.4(BRCA2):c.84T>A (p.Ser28Arg)	BRCA2 (S28R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575189	NM_000059.4(BRCA2):c.82del (p.Ser28fs)	BRCA2 (S28fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575188	NM_000059.4(BRCA2):c.73_77del (p.Gly25fs)	BRCA2 (G25fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575187	NM_000059.4(BRCA2):c.69_71dup (p.Asp23_Leu24insPhe)	BRCA2	Duplication (inframe_insertion +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575183	NM_000059.4(BRCA2):c.1864_1865dup (p.Asn623fs)	BRCA2 (N623fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2575182	NM_000059.4(BRCA2):c.1861_1862del (p.Glu621fs)	BRCA2 (E621fs)	Deletion (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2573226	NM_000059.4(BRCA2):c.6938-120T>A	BRCA2	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 2566032	NM_000059.3:c.4993_4994insALU	BRCA2	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 2503423	NM_000059.4(BRCA2):c.7300_7301del (p.Lys2434fs)	BRCA2 (K2402fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 2502890	NM_000059.4(BRCA2):c.5653T>C (p.Cys1885Arg)	BRCA2 (C1885R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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