"PreventionGenetics, part of Exact Sciences"[submitter] AND "BRCA1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054341	NM_007294.4(BRCA1):c.*721G>A	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GLikely benign
Select item 1337343	NM_007294.4(BRCA1):c.*713C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3038363	NM_007294.4(BRCA1):c.*536A>G	BRCA1	Single nucleotide variant (3 prime UTR variant)	BRCA1-related disorder	GLikely benign
Select item 1332042	NM_007294.4(BRCA1):c.*106C>T	BRCA1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 185343	NM_007294.4(BRCA1):c.5586C>T (p.His1862=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 187111	NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del)	BRCA1	Deletion (inframe_indel +3 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 55634	NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg)	BRCA1 (P1859R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 184051	NM_007294.4(BRCA1):c.5514G>T (p.Val1838=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 225731	NM_007294.4(BRCA1):c.5485G>A (p.Glu1829Lys)	BRCA1 (E1829K +80 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 55589	NM_007294.4(BRCA1):c.5468-10C>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 3034892	NM_007294.4(BRCA1):c.5468-30C>G	BRCA1	Single nucleotide variant (intron variant)	BRCA1-related disorder	GLikely benign
Select item 3041934	NM_007294.4(BRCA1):c.5468-41A>G	BRCA1	Single nucleotide variant (intron variant)	BRCA1-related disorder	GLikely benign
Select item 182098	NM_007294.4(BRCA1):c.5412C>T (p.Val1804=)	BRCA1 (P676S +9 more)	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55568	NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)	BRCA1 (V1804D +90 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 371817	NM_007294.4(BRCA1):c.5407-25T>A	BRCA1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 125843	NM_007294.4(BRCA1):c.5406+8T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 865677	NM_007294.4(BRCA1):c.5380G>A (p.Glu1794Lys)	BRCA1 (E690K +79 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 186289	NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 55539	NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly)	BRCA1 (D1778G +79 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 125831	NM_007294.4(BRCA1):c.5333-8C>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3032864	NM_007294.4(BRCA1):c.5333-21A>C	BRCA1	Single nucleotide variant (intron variant)	BRCA1-related disorder	GLikely benign
Select item 1697599	NM_007294.4(BRCA1):c.5333-46G>A	BRCA1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 220900	NM_007294.4(BRCA1):c.5332+13G>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 182097	NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 509994	NM_007294.4(BRCA1):c.5289G>A (p.Gly1763=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 264859	NM_007294.4(BRCA1):c.5277+2938T>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 17677	NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	BRCA1 (Q1756fs +3 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 560856	NM_007294.4(BRCA1):c.5234A>G (p.Asn1745Ser)	BRCA1 (N1745S +79 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 55463	NM_007294.4(BRCA1):c.5210GAG[1] (p.Gly1738del)	BRCA1 (G1738del +79 more)	Microsatellite (inframe_indel +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 55453	NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly)	BRCA1 (D1733G +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125803	NM_007294.4(BRCA1):c.5194-18G>T	BRCA1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 136552	NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55438	NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)	BRCA1 (T1720A +79 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55428	NM_007294.4(BRCA1):c.5152+66G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37642	NM_007294.4(BRCA1):c.5152+1G>C	BRCA1	Single nucleotide variant (splice donor variant +1 more)	not provided +4 more	GPathogenic
Select item 55407	NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)	BRCA1 (A1708E +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37636	NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	BRCA1 (R1699Q +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55395	NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55387	NM_007294.4(BRCA1):c.5080G>T (p.Glu1694Ter)	BRCA1 (E1694* +78 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 125761	NM_007294.4(BRCA1):c.5075-9A>T	BRCA1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 37628	NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)	BRCA1 (T1691I +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +5 more	GPathogenic/Likely pathogenic
Select item 37625	NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg)	BRCA1 (M1689R +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GPathogenic/Likely pathogenic
Select item 187617	NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 136551	NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55349	NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys)	BRCA1 (M1663K +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GUncertain significance
Select item 91635	NM_007294.4(BRCA1):c.4987-20A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41830	NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	BRCA1 (M1652I +76 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 142312	NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)	BRCA1 (R1645T +77 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 55314	NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)	BRCA1 (P1637L +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41828	NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)	BRCA1 (M1628T +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 971555	NM_007294.4(BRCA1):c.4846G>A (p.Ala1616Thr)	BRCA1 (A1569T +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 55301	NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser)	BRCA1 (P1614S +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41827	NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly)	BRCA1 (S1613G +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37613	NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys)	BRCA1 (S1613C +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +4 more	GBenign/Likely benign
Select item 37612	NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)	BRCA1 (K1606E +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55294	NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55293	NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55284	NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)	BRCA1 (R1589H +77 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GLikely benign
Select item 409298	NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr)	BRCA1 (S1566Y +77 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 55262	NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)	BRCA1 (L1564P +77 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37607	NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	BRCA1 (Y1563* +77 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 491084	NM_007294.4(BRCA1):c.4683C>A (p.Thr1561=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 55259	NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)	BRCA1 (T1561I +77 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 142627	NM_007294.4(BRCA1):c.4679G>T (p.Gly1560Val)	BRCA1 (G1560V +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 55245	NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)	BRCA1 (D1546N +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 377572	NM_007294.4(BRCA1):c.4635C>T (p.His1545=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55235	NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met)	BRCA1 (V1534M +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55229	NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs)	BRCA1 (Q1546fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 41826	NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)	BRCA1 (S1512I +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55224	NM_007294.4(BRCA1):c.4534A>T (p.Ser1512Cys)	BRCA1 (S1512C +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GUncertain significance
Select item 55221	NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	BRCA1 (W1508* +75 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 824937	NM_007294.4(BRCA1):c.4492C>T (p.Pro1498Ser)	BRCA1 (P1498S +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 55214	NM_007294.4(BRCA1):c.4485-2A>G	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +4 more	GPathogenic/Likely pathogenic
Select item 215874	NM_007294.4(BRCA1):c.4485-10A>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome +6 more	GConflicting classifications of pathogenicity
Select item 431186	NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr)	BRCA1 (A1481T +75 more)	Single nucleotide variant (missense variant +1 more)	BRCA1-related disorder +4 more	GUncertain significance
Select item 55193	NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His)	BRCA1 (N1171H +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125710	NM_007294.4(BRCA1):c.4358-10C>T	BRCA1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 371860	NM_007294.4(BRCA1):c.4358-2715C>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GLikely benign
Select item 2635525	NM_007294.4(BRCA1):c.4358-2755C>G	BRCA1 (S1392C +9 more)	Single nucleotide variant (missense variant +1 more)	BRCA1-related disorder	GUncertain significance
Select item 1315515	NM_007294.4(BRCA1):c.4358-2789A>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 125709	NM_007294.4(BRCA1):c.4357+17A>G	BRCA1	Single nucleotide variant (intron variant)	Familial cancer of breast +6 more	GBenign/Likely benign
Select item 55176	NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 427343	NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 17676	NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly)	BRCA1 (R1443G +58 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 125703	NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55156	NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)	BRCA1 (H1421Y +58 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 55151	NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 37575	NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val)	BRCA1 (I1405V +58 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 184015	NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55140	NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr)	BRCA1 (H1402Y +58 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55133	NM_007294.4(BRCA1):c.4186-10G>A	BRCA1	Single nucleotide variant (intron variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 125686	NM_007294.4(BRCA1):c.4185+11TG[5]	BRCA1	Microsatellite (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 125685	NM_007294.4(BRCA1):c.4185+10G>C	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 55111	NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)	BRCA1 (V1378I +48 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 136547	NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)	BRCA1	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 55085	NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met)	BRCA1, LOC126862571 (T1349M +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 41821	NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)	BRCA1, LOC126862571 (R1347G +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37561	NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys)	BRCA1, LOC126862571 (E1346K +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 427262	NM_007294.4(BRCA1):c.4026A>C (p.Ser1342=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign

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