"breast cancer"[dis] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 418771	NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr)	MUTYH (A66T +4 more)	Single nucleotide variant (missense variant +2 more)	MUTYH-related Breast Cancer +5 more	GConflicting classifications of pathogenicity
Select item 1009492	NM_000251.3(MSH2):c.1131AGA[1] (p.Glu378del)	MSH2 (E312del +1 more)	Microsatellite (inframe_deletion)	Inherited ovarian cancer (without breast cancer) +4 more	GUncertain significance
Select item 216297	NM_000179.3(MSH6):c.1450G>A (p.Glu484Lys)	MSH6 (E484K +2 more)	Single nucleotide variant (missense variant)	Inherited ovarian cancer (without breast cancer) +3 more	GConflicting classifications of pathogenicity
Select item 89249	NM_000179.3(MSH6):c.2087T>C (p.Ile696Thr)	MSH6 (I696T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 127589	NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	MSH6 (T1243S +2 more)	Single nucleotide variant (missense variant)	Inherited ovarian cancer (without breast cancer) +6 more	GConflicting classifications of pathogenicity
Select item 135059	NM_000534.5(PMS1):c.1888C>T (p.Arg630Ter)	PMS1 (R630* +3 more)	Single nucleotide variant (nonsense +2 more)	PMS1-related breast cancer	GUncertain significance
Select item 2677903	NM_000534.5(PMS1):c.2434C>T (p.Arg812Cys)	PMS1 (R611C +5 more)	Single nucleotide variant (missense variant +1 more)	PMS1-related breast cancer	GUncertain significance
Select item 7762	NM_001372051.1(CASP8):c.853G>C (p.Asp285His)	CASP8 (D302H +13 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
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-predisposing syndrome +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 breast ovarian cancer syndrome +3 more	GPathogenic
Select item 127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	BARD1 (Q564* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 8045	NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)	BARD1 (C557S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +4 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 182027	NM_000465.4(BARD1):c.1347A>G (p.Gln449=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 184858	NM_000465.4(BARD1):c.1152C>T (p.Ser384=)	BARD1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 241852	NM_139076.3(ABRAXAS1):c.103G>C (p.Gly35Arg)	ABRAXAS1 (G35R)	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast cancer, ABRAXAS1-related +1 more	GUncertain significance
Select item 822	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	APC (I1307K +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 128004	NM_005732.4(RAD50):c.2397G>C (p.Gln799His)	RAD50 (Q799H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 142065	NM_005732.4(RAD50):c.3779G>A (p.Arg1260His)	RAD50, TH2LCRR (R1260H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1683760	NM_001142556.2(HMMR):c.1928T>C (p.Val643Ala)	HMMR, HMMR-AS1 (V556A +3 more)	Single nucleotide variant (missense variant)	Breast cancer, susceptibility to	GUncertain significance
Select item 530768	NM_002485.5(NBN):c.1530G>C (p.Glu510Asp)	NBN (E510D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 237637	NM_000314.8(PTEN):c.1054GAG[1] (p.Glu353del)	PTEN (E353del +2 more)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1782	NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter)	CYP17A1, CYP17A1-AS1 (R239*)	Single nucleotide variant (nonsense)	Deficiency of steroid 17-alpha-monooxygenase +1 more	GPathogenic
Select item 218156	NM_005591.4(MRE11):c.901C>G (p.Leu301Val)	MRE11 (L301V)	Single nucleotide variant (missense variant)	Triple-negative breast cancer	Gassociation
Select item 3048	NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	ATM (S49C)	Single nucleotide variant (missense variant)	Familial cancer of breast	GBenign FDA Recognized database
Select item 127341	NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	ATM (W57*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 127337	NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	ATM (R447*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 233553	NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)	ATM (Q466*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +4 more	GPathogenic
Select item 819185	NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)	ATM (W488*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 181992	NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	ATM (Q1017*)	Single nucleotide variant (nonsense)	Breast cancer, susceptibility to +4 more	GPathogenic/Likely pathogenic
Select item 407699	NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	ATM (E1072*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 3033	NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	ATM (H1082fs)	Indel (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 2584504	NM_000051.4(ATM):c.3973G>T (p.Glu1325Ter)	ATM (E1325*)	Single nucleotide variant (nonsense)	Breast cancer, susceptibility to	GLikely pathogenic
Select item 229880	NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)	ATM	Microsatellite (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 245815	NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)	ATM (R1875*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 141404	NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	ATM, C11orf65 (Q1970*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	C11orf65, ATM (E1978*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +5 more	GPathogenic
Select item 186516	NM_000051.4(ATM):c.6228del (p.Leu2077fs)	ATM, C11orf65 (L2077fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast +4 more	GPathogenic
Select item 3023	NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	ATM, C11orf65 (V2424G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 127445	NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	C11orf65, ATM (R2486*)	Single nucleotide variant (nonsense +1 more)	Inherited breast cancer and ovarian cancer +5 more	GPathogenic/Likely pathogenic
Select item 141556	NM_000051.4(ATM):c.8397del (p.Gln2800fs)	ATM, C11orf65 (Q2800fs)	Deletion (frameshift variant +1 more)	Breast cancer, susceptibility to +4 more	GPathogenic
Select item 181866	NM_000051.4(ATM):c.8418+5_8418+8del	ATM, C11orf65	Microsatellite (splice donor variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 133637	NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	C11orf65, ATM (R2849*)	Single nucleotide variant (nonsense +1 more)	Tip-toe gait +5 more	GPathogenic/Likely pathogenic
Select item 199662	NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)	ATM, C11orf65 (T2911I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 582761	NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)	ATM, C11orf65 (Q2971*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 186330	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	C11orf65, ATM (R2993*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +5 more	GPathogenic/Likely pathogenic
Select item 185326	NM_000051.4(ATM):c.8988-2A>G	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Ataxia-telangiectasia syndrome +3 more	GPathogenic/Likely pathogenic
Select item 479376	NM_000059.4(BRCA2):c.112G>A (p.Glu38Lys)	BRCA2 (E38K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 545484	NM_000059.4(BRCA2):c.266C>A (p.Pro89Gln)	BRCA2 (P89Q)	Single nucleotide variant (missense variant)	Breast cancer, susceptibility to +1 more	GUncertain significance
Select item 51802	NM_000059.4(BRCA2):c.517-4C>G	BRCA2	Single nucleotide variant (intron variant)	Inherited breast cancer and ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 51926	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2 (M192fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 420059	NM_000059.4(BRCA2):c.767C>T (p.Thr256Ile)	BRCA2 (T256I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 51314	NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)	BRCA2 (S869L)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +4 more	GConflicting classifications of pathogenicity
Select item 232177	NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu)	BRCA2 (K907E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51336	NM_000059.4(BRCA2):c.2748T>A (p.Cys916Ter)	BRCA2 (C916*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37832	NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)	BRCA2 (N1100I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +5 more	GConflicting classifications of pathogenicity
Select item 489755	NM_000059.4(BRCA2):c.3340C>T (p.Leu1114Phe)	BRCA2 (L1114F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +3 more	GConflicting classifications of pathogenicity
Select item 186700	NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)	BRCA2 (V1166D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 51504	NM_000059.4(BRCA2):c.3680_3681del (p.Leu1227fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51525	NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)	BRCA2 (S1262*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252424	NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter)	BRCA2 (Q1295*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 545488	NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn)	BRCA2 (S1342N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 765552	NM_000059.4(BRCA2):c.4035T>C (p.Asp1345=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GConflicting classifications of pathogenicity
Select item 37957	NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51858	NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)	BRCA2 (N1805S)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 38005	NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr)	BRCA2 (H1966Y)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 38007	NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)	BRCA2 (S1970*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 545485	NM_000059.4(BRCA2):c.6149dup (p.Asn2051fs)	BRCA2 (N2051fs)	Duplication (frameshift variant)	Breast cancer, susceptibility to	GLikely pathogenic
Select item 3374742	NM_000059.4(BRCA2):c.6177del (p.Ser2059fs)	BRCA2 (S2059fs)	Deletion (frameshift variant +2 more)	Inherited breast cancer and ovarian cancer	GPathogenic
Select item 91441	NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg)	BRCA2 (S2091R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 52205	NM_000059.4(BRCA2):c.6841+3A>T	BRCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 619819	NM_000059.4(BRCA2):c.7504C>A (p.Arg2502Ser)	BRCA2 (R2502S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 38138	NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)	BRCA2 (A2698T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 545487	NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)	BRCA2 (T2722I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 545491	NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs)	BRCA2 (I2822fs)	Deletion (frameshift variant)	Breast cancer, susceptibility to	GLikely pathogenic
Select item 545486	NM_000059.4(BRCA2):c.8477A>T (p.Tyr2826Phe)	BRCA2 (Y2826F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 545483	NM_000059.4(BRCA2):c.8713dup (p.Tyr2905fs)	BRCA2 (Y2905fs)	Duplication (frameshift variant)	Breast cancer, susceptibility to	GLikely pathogenic
Select item 38230	NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg)	BRCA2 (L3101R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic/Likely pathogenic
Select item 8945	NM_005432.4(XRCC3):c.562-14A>G	KLC1, XRCC3	Single nucleotide variant (intron variant)	Breast cancer, susceptibility to	Grisk factor
Select item 13128	NM_002875.5(RAD51):c.-98G>C	LOC130056864, RAD51	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1245	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 126715	NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	PALB2	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 126711	NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	PALB2 (W1038*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 979078	NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)	PALB2 (M992fs)	Deletion (frameshift variant)	Pancreatic cancer, susceptibility to, 3 +3 more	GPathogenic/Likely pathogenic
Select item 141560	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	PALB2	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 1246	NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	PALB2 (Q988*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 128136	NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	PALB2 (I966T)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 3228014	NM_024675.4(PALB2):c.2653C>T (p.Pro885Ser)	PALB2 (P289S +5 more)	Single nucleotide variant (missense variant +1 more)	Inherited breast cancer and ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 582926	NM_024675.4(PALB2):c.2515-1G>A	PALB2	Single nucleotide variant (splice acceptor variant +1 more)	Familial cancer of breast +3 more	GLikely pathogenic
Select item 126646	NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	PALB2 (Q775*)	Single nucleotide variant (nonsense)	Malignant tumor of breast +3 more	GPathogenic
Select item 128128	NM_024675.4(PALB2):c.2120del (p.Pro707fs)	PALB2	Deletion (frameshift variant)	Familial cancer of breast +4 more	GPathogenic
Select item 126609	NM_024675.4(PALB2):c.1592del (p.Leu531fs)	PALB2 (L531fs)	Deletion (frameshift variant)	Familial cancer of breast	GPathogenic FDA Recognized database
Select item 979137	NM_024675.4(PALB2):c.1299G>T (p.Leu433Phe)	PALB2 (L433F)	Single nucleotide variant (missense variant)	Breast cancer, susceptibility to +1 more	GUncertain significance
Select item 142048	NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser)	PALB2 (T397S)	Single nucleotide variant (missense variant)	Familial ovarian cancer +6 more	GConflicting classifications of pathogenicity
Select item 126583	NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)	PALB2 (Q343*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	Malignant tumor of breast +11 more	GPathogenic
Select item 141779	NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	PALB2 (K142*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic

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