"Sema4, Sema4"[submitter] AND "BARD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 216443	NM_000465.4(BARD1):c.2328C>T (p.Asp776=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 530225	NM_000465.4(BARD1):c.2316G>A (p.Leu772=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +1 more	GLikely benign
Select item 230523	NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)	BARD1 (V254fs +4 more)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1521461	NM_000465.4(BARD1):c.2299G>A (p.Val767Met)	BARD1 (V316M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 479124	NM_000465.4(BARD1):c.2299G>T (p.Val767Leu)	BARD1 (V767L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127735	NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	BARD1 (S761N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 184291	NM_000465.4(BARD1):c.2280G>A (p.Ser760=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 479129	NM_000465.4(BARD1):c.2279C>T (p.Ser760Leu)	BARD1 (S760L +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 1466571	NM_000465.4(BARD1):c.2273C>T (p.Ala758Val)	BARD1 (A245V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 183946	NM_000465.4(BARD1):c.2253G>T (p.Arg751=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 418642	NM_000465.4(BARD1):c.2251C>T (p.Arg751Trp)	BARD1 (R751W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 136501	NM_000465.4(BARD1):c.2212A>G (p.Ile738Val)	BARD1 (I738V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 184266	NM_000465.4(BARD1):c.2202A>G (p.Thr734=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 187551	NM_000465.4(BARD1):c.2191C>T (p.Arg731Cys)	BARD1 (R731C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 127732	NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)	BARD1 (R731G +4 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 215748	NM_000465.4(BARD1):c.2178C>T (p.Pro726=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 186822	NM_000465.4(BARD1):c.2172G>T (p.Ala724=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 141050	NM_000465.4(BARD1):c.2161G>A (p.Ala721Thr)	BARD1 (A721T +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 187542	NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)	BARD1 (I247fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 186019	NM_000465.4(BARD1):c.2137G>A (p.Val713Met)	BARD1 (V713M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127730	NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)	BARD1 (K706E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 489666	NM_000465.4(BARD1):c.2096G>C (p.Gly699Ala)	BARD1 (G699A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141937	NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)	BARD1 (V695I +4 more)	Single nucleotide variant (missense variant +1 more)	BARD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 186324	NM_000465.4(BARD1):c.2082C>T (p.Leu694=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	BARD1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 216440	NM_000465.4(BARD1):c.2065G>A (p.Asp689Asn)	BARD1 (D689N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 485325	NM_000465.4(BARD1):c.2027A>C (p.Tyr676Ser)	BARD1 (Y676S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 406770	NM_000465.4(BARD1):c.2008A>G (p.Lys670Glu)	BARD1 (K670E +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 229902	NM_000465.4(BARD1):c.2002-2A>T	BARD1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 182031	NM_000465.4(BARD1):c.2002-11C>T	BARD1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +3 more	GBenign/Likely benign
Select item 127729	NM_000465.4(BARD1):c.2002-12T>G	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 481377	NM_000465.4(BARD1):c.2001+1G>C	BARD1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 479154	NM_000465.4(BARD1):c.1989C>T (p.Asn663=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	Familial cancer of breast +2 more	GConflicting classifications of pathogenicity
Select item 127727	NM_000465.4(BARD1):c.1977A>G (p.Arg659=)	BARD1	Single nucleotide variant (synonymous variant +1 more)	BARD1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 230212	NM_000465.4(BARD1):c.1973G>A (p.Arg658His)	BARD1 (R658H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +6 more	GConflicting classifications of pathogenicity
Select item 136500	NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys)	BARD1 (R658C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GBenign/Likely benign
Select item 141702	NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)	BARD1 (R641* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 185614	NM_000465.4(BARD1):c.1904-5G>A	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 141027	NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser)	BARD1 (N626S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 232127	NM_000465.4(BARD1):c.1872del (p.Leu625fs)	BARD1 (L625fs +3 more)	Deletion (frameshift variant +2 more)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 142123	NM_000465.4(BARD1):c.1868G>A (p.Gly623Glu)	BARD1 (G623E +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 142336	NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)	BARD1 (D612V +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +4 more	GConflicting classifications of pathogenicity
Select item 184356	NM_000465.4(BARD1):c.1818T>C (p.His606=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +3 more	GLikely benign
Select item 976251	NM_000465.4(BARD1):c.1811-2A>G	BARD1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 406767	NM_000465.4(BARD1):c.1801G>A (p.Asp601Asn)	BARD1 (D601N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127723	NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn)	BARD1 (T598N +3 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +4 more	GUncertain significance
Select item 215747	NM_000465.4(BARD1):c.1788A>G (p.Lys596=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +4 more	GBenign/Likely benign
Select item 406745	NM_000465.4(BARD1):c.1780G>T (p.Ala594Ser)	BARD1 (A594S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 820035	NM_000465.4(BARD1):c.1774C>T (p.Leu592Phe)	BARD1 (L122F +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 231914	NM_000465.4(BARD1):c.1734T>A (p.Ser578=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 127722	NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr)	BARD1 (I573T +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1692445	NM_000465.4(BARD1):c.1700A>G (p.Asp567Gly)	BARD1 (D116G +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 655396	NM_000465.4(BARD1):c.1697G>A (p.Arg566Lys)	BARD1 (R547K +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 127721	NM_000465.4(BARD1):c.1694G>A (p.Arg565His)	BARD1 (R565H +3 more)	Single nucleotide variant (missense variant +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 819855	NM_000465.4(BARD1):c.1690C>G (p.Gln564Glu)	BARD1 (Q113E +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	BARD1 (Q564* +3 more)	Single nucleotide variant (nonsense +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 234117	NM_000465.4(BARD1):c.1689G>A (p.Gly563=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 182049	NM_000465.4(BARD1):c.1685C>T (p.Thr562Ile)	BARD1 (T562I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1332131	NM_000465.4(BARD1):c.1675G>A (p.Val559Ile)	BARD1 (V108I +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 141935	NM_000465.4(BARD1):c.1672T>C (p.Ser558Pro)	BARD1 (S558P +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 8045	NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)	BARD1 (C557S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 141384	NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)	BARD1 (S551* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 186969	NM_000465.4(BARD1):c.1635A>G (p.Leu545=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 184584	NM_000465.4(BARD1):c.1626A>G (p.Leu542=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 186171	NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)	BARD1 (S538N +3 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 219779	NM_000465.4(BARD1):c.1601C>T (p.Thr534Ile)	BARD1 (T534I +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185716	NM_000465.4(BARD1):c.1594G>A (p.Asp532Asn)	BARD1 (D532N +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 388713	NM_000465.4(BARD1):c.1593C>T (p.Val531=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 184366	NM_000465.4(BARD1):c.1587G>A (p.Arg529=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 187625	NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)	BARD1 (R529Q +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185032	NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp)	BARD1 (R529W +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141624	NM_000465.4(BARD1):c.1571A>G (p.Asn524Ser)	BARD1 (N524S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127716	NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)	BARD1 (V523A +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 230879	NM_000465.4(BARD1):c.1564G>T (p.Ala522Ser)	BARD1 (A522S +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 186247	NM_000465.4(BARD1):c.1554C>T (p.Ala518=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +4 more	GBenign/Likely benign
Select item 230452	NM_000465.4(BARD1):c.1525A>G (p.Ile509Val)	BARD1 (I509V +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +1 more	GUncertain significance
Select item 642866	NM_000465.4(BARD1):c.1519G>T (p.Val507Leu)	BARD1 (V488L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 182028	NM_000465.4(BARD1):c.1515G>T (p.Gly505=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +3 more	GBenign/Likely benign
Select item 184616	NM_000465.4(BARD1):c.1491A>G (p.Pro497=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +4 more	GBenign/Likely benign
Select item 184095	NM_000465.4(BARD1):c.1473G>A (p.Gly491=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 184172	NM_000465.4(BARD1):c.1470C>T (p.Thr490=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 481409	NM_000465.4(BARD1):c.1455A>T (p.Ala485=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 186788	NM_000465.4(BARD1):c.1438T>C (p.Leu480=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1692444	NM_000465.4(BARD1):c.1415G>A (p.Gly472Glu)	BARD1 (G453E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 232097	NM_000465.4(BARD1):c.1361C>T (p.Pro454Leu)	BARD1 (P454L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 233380	NM_000465.4(BARD1):c.1353A>T (p.Gly451=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 182027	NM_000465.4(BARD1):c.1347A>G (p.Gln449=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	BARD1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 182046	NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)	BARD1 (L447V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 479150	NM_000465.4(BARD1):c.1337A>G (p.Tyr446Cys)	BARD1 (Y446C +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 584632	NM_000465.4(BARD1):c.1314+5G>A	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 187034	NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)	BARD1 (K423R +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 406755	NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser)	BARD1 (N419S +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +2 more	GUncertain significance
Select item 237815	NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)	BARD1 (L416R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified +3 more	GUncertain significance
Select item 379884	NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)	BARD1 (S402* +1 more)	Single nucleotide variant (intron variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 184869	NM_000465.4(BARD1):c.1203T>C (p.Ser401=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 186845	NM_000465.4(BARD1):c.1194A>G (p.Thr398=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 490921	NM_000465.4(BARD1):c.1163T>C (p.Ile388Thr)	BARD1 (I388T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186719	NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu)	BARD1 (F387L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +3 more	GUncertain significance
Select item 1524052	NM_000465.4(BARD1):c.1156G>A (p.Glu386Lys)	BARD1 (E367K +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184858	NM_000465.4(BARD1):c.1152C>T (p.Ser384=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142247	NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)	BARD1 (S376L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity

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