C0346153[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 846304	NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)	CDC73 (R91*)	Single nucleotide variant (nonsense)	Hyperparathyroidism 1 +2 more	GPathogenic
Select item 127735	NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)	BARD1 (S761N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 127721	NM_000465.4(BARD1):c.1694G>A (p.Arg565His)	BARD1 (R565H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
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	GConflicting classifications of pathogenicity
Select item 381132	NM_000465.4(BARD1):c.1678-18C>G	BARD1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1428973	NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)	BARD1 (L513* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast	GConflicting classifications of pathogenicity
Select item 374093	NM_000465.4(BARD1):c.1463A>G (p.Asn488Ser)	BARD1 (N488S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 1803768	NM_000465.4(BARD1):c.1381G>T (p.Gly461Ter)	BARD1 (G442* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast	GUncertain significance
Select item 1803767	NM_000465.4(BARD1):c.216-1G>T	BARD1	Single nucleotide variant (intron variant +1 more)	Familial cancer of breast	GPathogenic
Select item 931105	NM_001142556.2(HMMR):c.904+1G>T	HMMR	Single nucleotide variant (splice donor variant)	Familial cancer of breast	GUncertain significance
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Aplastic anemia +7 more	GPathogenic
Select item 232248	NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	ATM (R23*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic
Select item 142913	NM_000051.4(ATM):c.94C>T (p.Arg32Cys)	ATM (R32C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 930773	NM_000051.4(ATM):c.637T>C (p.Phe213Leu)	ATM (F213L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 374194	NM_000051.4(ATM):c.689del (p.Asn230fs)	ATM (N230fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 186210	NM_000051.4(ATM):c.712A>G (p.Ile238Val)	ATM (I238V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 407721	NM_000051.4(ATM):c.1333del (p.Gln445fs)	ATM (Q445fs)	Deletion (frameshift variant)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 141561	NM_000051.4(ATM):c.1379C>T (p.Thr460Met)	ATM (T460M)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 481165	NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)	ATM (D479G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127340	NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	ATM (E522fs)	Microsatellite (frameshift variant)	Familial cancer of breast +7 more	GPathogenic
Select item 127343	NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	ATM (P604S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 1803769	NM_000051.4(ATM):c.2007T>A (p.Cys669Ter)	ATM (C669*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GLikely pathogenic
Select item 524264	NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)	ATM (Q781*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +1 more	GPathogenic
Select item 3035	NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	ATM	Single nucleotide variant (synonymous variant)	Cancer of the pancreas +5 more	GPathogenic/Likely pathogenic
Select item 127374	NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	ATM	Deletion (nonsense)	ATM-related cancer predisposition syndrome +6 more	GPathogenic
Select item 127394	NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	ATM (V1570A)	Single nucleotide variant (missense variant)	ATM-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 189177	NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	ATM (Q1839*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 127414	NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	C11orf65, ATM (E1978*)	Single nucleotide variant (nonsense +1 more)	ATM-related disorder +6 more	GPathogenic
Select item 617781	NM_000051.4(ATM):c.6082del (p.Gln2028fs)	ATM, C11orf65 (Q2028fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 181974	NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	ATM, C11orf65 (R2032K)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 141344	NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	ATM, C11orf65 (E2366*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1803765	NM_000051.4(ATM):c.7452_7453del (p.Phe2485fs)	ATM, C11orf65 (F2485fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 127447	NM_000051.4(ATM):c.7630-2A>C	ATM, C11orf65	Single nucleotide variant (splice acceptor variant +1 more)	Colorectal cancer +4 more	GPathogenic
Select item 142700	NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	ATM, C11orf65 (V2716A)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +5 more	GPathogenic/Likely pathogenic
Select item 931372	NM_000051.4(ATM):c.8268+2T>C	C11orf65, ATM	Single nucleotide variant (splice donor variant +1 more)	Ataxia-telangiectasia syndrome +1 more	GLikely pathogenic
Select item 617780	NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	ATM, C11orf65 (Q2809*)	Single nucleotide variant (nonsense +1 more)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 127459	NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	ATM, C11orf65 (R2832C)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 1803766	NM_000051.4(ATM):c.8708del (p.Pro2903fs)	ATM, C11orf65 (P2903fs)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 133641	NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	ATM, C11orf65 (R2912G)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance FDA Recognized database
Select item 37763	NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51578	NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs)	BRCA2 (A1327fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51837	NM_000059.4(BRCA2):c.5291C>G (p.Ser1764Ter)	BRCA2 (S1764*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37960	NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs)	BRCA2 (N1784fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51890	NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)	BRCA2	Indel (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38077	NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	BRCA2 (R2336H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52418	NM_000059.4(BRCA2):c.7806-2A>G	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52559	NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)	BRCA2 (R2784Q)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +6 more	GConflicting classifications of pathogenicity
Select item 409445	NM_000059.4(BRCA2):c.8415ATC[1] (p.Ser2807del)	BRCA2 (S2807del)	Microsatellite (inframe_deletion)	Hereditary breast ovarian cancer syndrome +2 more	GUncertain significance
Select item 216262	NM_000059.4(BRCA2):c.8507C>T (p.Ser2836Phe)	BRCA2 (S2836F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 38183	NM_000059.4(BRCA2):c.8755-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 930971	NM_001382430.1(AKT1):c.567+16T>G	AKT1	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 931344	NM_024675.4(PALB2):c.3114-130A>C	PALB2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 930580	NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu)	PALB2 (Q795E)	Single nucleotide variant (missense variant)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 617779	NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)	PALB2 (L731*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 128125	NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)	PALB2 (R663C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 523534	NM_024675.4(PALB2):c.1597A>G (p.Thr533Ala)	PALB2 (T533A)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 187412	NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)	PALB2 (L484*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic/Likely pathogenic
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 126581	NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)	PALB2 (Y334C)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GConflicting classifications of pathogenicity
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	not specified +11 more	GPathogenic
Select item 126623	NM_024675.4(PALB2):c.172_175del (p.Gln60fs)	PALB2 (Q60fs)	Microsatellite (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 182792	NM_024675.4(PALB2):c.37G>A (p.Glu13Lys)	PALB2 (E13K)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 987066	NM_004360.5(CDH1):c.583C>T (p.Gln195Ter)	CDH1 (Q195*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 156499	NM_004360.5(CDH1):c.1137G>A (p.Thr379=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 127915	NM_004360.5(CDH1):c.1565+1G>A	CDH1	Single nucleotide variant (splice donor variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 384596	NM_000546.6(TP53):c.-11G>A	TP53	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 41831	NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser)	BRCA1 (A1669S +77 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +7 more	GConflicting classifications of pathogenicity
Select item 17674	NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)	BRCA1, LOC126862571 (N1355fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54890	NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)	BRCA1, LOC126862571 (D1152N +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 41817	NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly)	BRCA1, LOC126862571 (S1140G +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign FDA Recognized database
Select item 37523	NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)	BRCA1, LOC126862571 (Q1064fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17681	NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	BRCA1 (R841W +20 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 37426	NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter)	BRCA1 (Q563* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17683	NM_007294.4(BRCA1):c.843_846del (p.Ser282fs)	BRCA1 (S282fs +19 more)	Deletion (intron variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37693	NM_007294.4(BRCA1):c.676del (p.Cys226fs)	BRCA1 (C226fs +1 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37675	NM_007294.4(BRCA1):c.548-17G>T	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GBenign
Select item 17661	NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	BRCA1 (C61G +1 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 930671	NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu)	PPM1D (K469E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 930531	NM_003620.4(PPM1D):c.1423del (p.Glu475fs)	PPM1D (E475fs)	Deletion (frameshift variant)	Familial cancer of breast	GLikely pathogenic
Select item 931776	NM_003620.4(PPM1D):c.1640T>A (p.Met547Lys)	PPM1D (M547K)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 374030	NM_032043.3(BRIP1):c.3413A>G (p.Asp1138Gly)	BRIP1 (D1138G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 241642	NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	BRIP1	Deletion (nonsense)	Fanconi anemia complementation group J +4 more	GPathogenic/Likely pathogenic
Select item 186015	NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)	BRIP1 (R865Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 133752	NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	BRIP1 (Q740H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +8 more	GConflicting classifications of pathogenicity
Select item 932097	NM_032043.3(BRIP1):c.1670C>T (p.Ser557Phe)	BRIP1 (S557F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128153	NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	BRIP1 (R419W)	Single nucleotide variant (missense variant)	Familial cancer of breast +8 more	GConflicting classifications of pathogenicity
Select item 461056	NM_032043.3(BRIP1):c.1031G>A (p.Gly344Glu)	BRIP1 (G344E)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 141590	NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)	BRIP1 (I243T)	Single nucleotide variant (missense variant)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
Select item 143021	NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)	BRIP1 (D184Y)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1803771	NM_032043.3(BRIP1):c.368C>A (p.Ser123Ter)	BRIP1 (S123*)	Single nucleotide variant (nonsense)	Familial cancer of breast	GUncertain significance
Select item 1803770	NM_032043.3(BRIP1):c.318del (p.His107fs)	BRIP1 (H107fs)	Deletion (frameshift variant)	Familial cancer of breast	GUncertain significance
Select item 4736	NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	BRIP1 (P47A)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GConflicting classifications of pathogenicity
Select item 128053	NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	CHEK2 (S355fs +4 more)	Deletion (frameshift variant)	Malignant tumor of prostate +10 more	GPathogenic/Likely pathogenic
Select item 141818	NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	CHEK2 (Y390S +4 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 182458	NM_007194.4(CHEK2):c.1115C>T (p.Ser372Phe)	CHEK2 (S372F +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 128042	NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	CHEK2 (T146fs +4 more)	Deletion (frameshift variant)	not provided +19 more	GPathogenic
Select item 565542	NM_007194.4(CHEK2):c.683+2T>C	CHEK2	Single nucleotide variant (splice donor variant +1 more)	Familial cancer of breast +1 more	GConflicting classifications of pathogenicity
Select item 128081	NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)	CHEK2 (R180C +1 more)	Single nucleotide variant (missense variant +2 more)	Breast and/or ovarian cancer +8 more	GConflicting classifications of pathogenicity
Select item 232352	NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe)	CHEK2 (L174F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance

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