"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)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 127589	NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)	MSH6 (T1243S +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 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 specified +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 +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 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 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 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 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 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)	not provided +7 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)	not provided +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)	Microcephaly, normal intelligence and immunodeficiency +2 more	GUncertain significance
Select item 237637	NM_000314.8(PTEN):c.1054GAG[1] (p.Glu353del)	PTEN (E353del +2 more)	Microsatellite (inframe_deletion)	PTEN hamartoma tumor 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)	Ataxia-telangiectasia syndrome +4 more	GPathogenic
Select item 141546	NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	ATM	Deletion (frameshift variant)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 127337	NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	ATM (R447*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +4 more	GPathogenic/Likely pathogenic
Select item 819185	NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)	ATM (W488*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GConflicting classifications of pathogenicity
Select item 181992	NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	ATM (Q1017*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 407699	NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	ATM (E1072*)	Single nucleotide variant (nonsense)	Familial cancer of breast +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 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)	Breast cancer, susceptibility to +4 more	GPathogenic
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	ATM, C11orf65 (E1978*)	Single nucleotide variant (nonsense +1 more)	ATM-related condition +6 more	GPathogenic
Select item 186516	NM_000051.4(ATM):c.6228del (p.Leu2077fs)	ATM, C11orf65 (L2077fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +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 689657	NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)	C11orf65, ATM (N2501K)	Single nucleotide variant (missense variant +1 more)	Ataxia-telangiectasia syndrome	GUncertain significance
Select item 141556	NM_000051.4(ATM):c.8397del (p.Gln2800fs)	C11orf65, ATM (Q2800fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 181866	NM_000051.4(ATM):c.8418+5_8418+8del	C11orf65, ATM	Microsatellite (splice donor variant +1 more)	Ataxia-telangiectasia syndrome +5 more	GPathogenic
Select item 133637	NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	C11orf65, ATM (R2849*)	Single nucleotide variant (nonsense +1 more)	Ataxia-telangiectasia syndrome +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)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 186330	NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	ATM, C11orf65 (R2993*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +4 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 51926	NM_000059.4(BRCA2):c.574dup (p.Met192fs)	BRCA2 (M192fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 834050	NM_000059.4(BRCA2):c.2623G>C (p.Val875Leu)	BRCA2 (V875L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 232177	NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu)	BRCA2 (K907E)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +3 more	GConflicting classifications of pathogenicity
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 545485	NM_000059.4(BRCA2):c.6149dup (p.Asn2051fs)	BRCA2 (N2051fs)	Duplication (frameshift variant)	Breast cancer, susceptibility to	GLikely pathogenic
Select item 52205	NM_000059.4(BRCA2):c.6841+3A>T	BRCA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 545487	NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile)	BRCA2 (T2722I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 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 690302	NM_032444.4(SLX4):c.5413T>C (p.Cys1805Arg)	SLX4 (C1805R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group P +1 more	GUncertain significance
Select item 1245	NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter)	PALB2 (Y1183*)	Single nucleotide variant (nonsense)	PALB2-Related Disorders +4 more	GPathogenic/Likely pathogenic
Select item 126740	NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)	PALB2 (L1143H)	Single nucleotide variant (missense variant)	PALB2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 126715	NM_024675.4(PALB2):c.3116del (p.Asn1039fs)	PALB2	Deletion (frameshift variant)	Breast and/or ovarian cancer +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)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 141560	NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)	PALB2	Deletion (frameshift variant)	Familial cancer of breast +5 more	GPathogenic
Select item 1246	NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)	PALB2 (Q988*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 128136	NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)	PALB2 (I966T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group N +5 more	GConflicting classifications of pathogenicity
Select item 460961	NM_024675.4(PALB2):c.2821A>G (p.Ile941Val)	PALB2 (I941V)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 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)	Hereditary cancer-predisposing syndrome +3 more	GLikely pathogenic
Select item 126646	NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)	PALB2 (Q775*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 128128	NM_024675.4(PALB2):c.2120del (p.Pro707fs)	PALB2	Deletion (frameshift variant)	Pancreatic cancer, susceptibility to, 3 +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 126583	NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)	PALB2 (Q343*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	PALB2-related condition +11 more	GPathogenic
Select item 141779	NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)	PALB2 (K142*)	Single nucleotide variant (nonsense)	PALB2-related disorder +5 more	GPathogenic
Select item 142408	NM_024675.4(PALB2):c.226del (p.Ile76fs)	PALB2	Deletion (frameshift variant)	Breast cancer, susceptibility to +6 more	GPathogenic/Likely pathogenic
Select item 402289	NM_024675.4(PALB2):c.108+1G>A	PALB2	Single nucleotide variant (splice donor variant +1 more)	Pancreatic cancer, susceptibility to, 3 +4 more	GPathogenic/Likely pathogenic
Select item 12247	NM_004360.4(CDH1):c.-124-161C>A	CDH1	Single nucleotide variant	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 2579700	NM_004360.5(CDH1):c.-72T>C	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 221174	NM_004360.5(CDH1):c.-71C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 419385	NM_004360.5(CDH1):c.-58GCCCG[3]	CDH1, LOC130059290	Microsatellite (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 422227	NM_004360.5(CDH1):c.-50C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 234282	NM_004360.5(CDH1):c.-50C>G	LOC130059290, CDH1	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 421431	NM_004360.5(CDH1):c.-45C>T	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 532457	NM_004360.5(CDH1):c.1A>G (p.Met1Val)	CDH1 (M1V)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 1292057	NM_004360.5(CDH1):c.2T>A (p.Met1Lys)	CDH1 (M1K)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 532474	NM_004360.5(CDH1):c.2T>G (p.Met1Arg)	CDH1 (M1R)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 486826	NM_004360.5(CDH1):c.2T>C (p.Met1Thr)	CDH1 (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 239906	NM_004360.5(CDH1):c.3G>A (p.Met1Ile)	CDH1 (M1I)	Single nucleotide variant (missense variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 183998	NM_004360.5(CDH1):c.4G>A (p.Gly2Ser)	CDH1 (G2S)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 239909	NM_004360.5(CDH1):c.5G>T (p.Gly2Val)	CDH1 (G2V)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 418111	NM_004360.5(CDH1):c.7C>T (p.Pro3Ser)	CDH1 (P3S)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GUncertain significance FDA Recognized database
Select item 142469	NM_004360.5(CDH1):c.8C>G (p.Pro3Arg)	CDH1 (P3R)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 918853	NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)	CDH1 (W4*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 548782	NM_004360.5(CDH1):c.12G>A (p.Trp4Ter)	CDH1 (W4*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 651982	NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)	CDH1 (S9*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 220798	NM_004360.5(CDH1):c.32TGC[6] (p.Leu15dup)	CDH1	Microsatellite (inframe_insertion +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 142455	NM_004360.5(CDH1):c.32TGC[7] (p.Leu14_Leu15dup)	CDH1	Microsatellite (inframe_insertion +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 182377	NM_004360.5(CDH1):c.33G>C (p.Leu11=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database

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