C2676676[trait identifier] AND "Department of Molecular Diagnostics, I - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 6940	NM_002485.5(NBN):c.657_661del (p.Lys219fs)	NBN (K137fs +1 more)	Deletion (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +7 more	GPathogenic
Select item 1012201	NM_002485.5(NBN):c.584G>A (p.Ser195Asn)	NBN (S113N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 186314	NM_002485.5(NBN):c.37+1G>A	NBN	Single nucleotide variant (splice donor variant)	Microcephaly, normal intelligence and immunodeficiency +4 more	GPathogenic/Likely pathogenic
Select item 51317	NM_000059.4(BRCA2):c.262_263del (p.Leu88fs)	BRCA2 (L88fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51382	NM_000059.4(BRCA2):c.298A>T (p.Lys100Ter)	BRCA2 (K100*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9348	NM_000059.4(BRCA2):c.631+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9326	NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52402	NM_000059.4(BRCA2):c.775A>T (p.Arg259Ter)	BRCA2 (R259*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52437	NM_000059.4(BRCA2):c.793+1G>A	BRCA2	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 51139	NM_000059.4(BRCA2):c.1528G>T (p.Glu510Ter)	BRCA2 (E510*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51190	NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs)	BRCA2 (I591fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37762	NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	BRCA2 (I605fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 228323	NM_000059.4(BRCA2):c.1832C>G (p.Ser611Ter)	BRCA2 (S611*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 988489	NM_000059.4(BRCA2):c.2372C>G (p.Ser791Ter)	BRCA2 (S791*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 9322	NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	BRCA2 (A938fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51438	NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter)	BRCA2 (Q1089*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51493	NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37856	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	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 51599	NM_000059.4(BRCA2):c.4111C>T (p.Gln1371Ter)	BRCA2 (Q1371*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51605	NM_000059.4(BRCA2):c.4139_4140dup (p.Lys1381fs)	BRCA2 (K1381fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266819	NM_000059.4(BRCA2):c.4530del (p.Glu1511fs)	BRCA2 (E1511fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37935	NM_000059.4(BRCA2):c.4936_4939del (p.Glu1646fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51767	NM_000059.4(BRCA2):c.5101C>T (p.Gln1701Ter)	BRCA2 (Q1701*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 266850	NM_000059.4(BRCA2):c.5119dup (p.Thr1707fs)	BRCA2 (T1707fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 233155	NM_000059.4(BRCA2):c.5197_5198del (p.Ser1733fs)	BRCA2 (S1733fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37951	NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)	BRCA2	Deletion (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 51861	NM_000059.4(BRCA2):c.5433_5436del (p.Glu1811fs)	BRCA2 (E1811fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51879	NM_000059.4(BRCA2):c.5560_5561del (p.Val1854fs)	BRCA2 (V1854fs)	Microsatellite (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 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38001	NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52000	NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter)	BRCA2 (Q2024*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38043	NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)	BRCA2 (N2135fs)	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52100	NM_000059.4(BRCA2):c.6445_6446del (p.Ser2148_Ile2149insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38047	NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)	BRCA2 (Q2157fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52116	NM_000059.4(BRCA2):c.6491_6494del (p.Gln2164fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52122	NM_000059.4(BRCA2):c.6531_6534del (p.Ile2177fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38059	NM_000059.4(BRCA2):c.6641dup (p.Tyr2215fs)	BRCA2 (Y2215fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52196	NM_000059.4(BRCA2):c.6814del (p.Arg2272fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52241	NM_000059.4(BRCA2):c.7007G>C (p.Arg2336Pro)	BRCA2 (R2336P)	Single nucleotide variant (missense variant)	Familial cancer of breast +6 more	GPathogenic
Select item 38082	NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52298	NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs)	BRCA2 (H2417fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52305	NM_000059.4(BRCA2):c.7303C>T (p.Gln2435Ter)	BRCA2 (Q2435*)	Single nucleotide variant (nonsense)	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 1005003	NM_000059.4(BRCA2):c.7892T>C (p.Leu2631Pro)	BRCA2 (L2631P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 52468	NM_000059.4(BRCA2):c.8002A>T (p.Arg2668Ter)	BRCA2 (R2668*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267050	NM_000059.4(BRCA2):c.8021dup (p.Ile2675fs)	BRCA2 (I2675fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52477	NM_000059.4(BRCA2):c.8029del (p.Glu2677fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52519	NM_000059.4(BRCA2):c.8175G>A (p.Trp2725Ter)	BRCA2 (W2725*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52573	NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs)	BRCA2 (R2799fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 1012202	NM_000059.4(BRCA2):c.8423_8427delinsA (p.Leu2808fs)	BRCA2 (L2808fs)	Indel (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 1012203	NM_000059.4(BRCA2):c.8487+2T>G	BRCA2	Single nucleotide variant (splice donor variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 372573	NM_000059.4(BRCA2):c.8557A>T (p.Lys2853Ter)	BRCA2 (K2853*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52656	NM_000059.4(BRCA2):c.8673_8674del (p.Arg2892fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 52694	NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)	BRCA2 (Q2960*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52704	NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)	BRCA2 (S2978*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38215	NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 9347	NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	BRCA2 (Q3066*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52806	NM_000059.4(BRCA2):c.9286G>T (p.Glu3096Ter)	BRCA2 (E3096*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38233	NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)	BRCA2 (N3124I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 267174	NM_000059.4(BRCA2):c.9836T>A (p.Leu3279Ter)	BRCA2 (L3279*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126757	NM_024675.4(PALB2):c.509_510del (p.Arg170fs)	PALB2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 1 +11 more	GPathogenic
Select item 37679	NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)	BRCA1 (W1837R +80 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55556	NM_007294.4(BRCA1):c.5377A>T (p.Lys1793Ter)	BRCA1 (K1793* +79 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 55480	NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)	BRCA1 (R1751* +79 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37644	NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	BRCA1 (R1747fs +3 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 125768	NM_007294.4(BRCA1):c.5152+1G>A	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +2 more	GPathogenic
Select item 55396	NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	BRCA1 (R1699W +78 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55341	NM_007294.4(BRCA1):c.4986+3G>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 125726	NM_007294.4(BRCA1):c.4676-2A>G	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 266478	NM_007294.4(BRCA1):c.4503C>A (p.Cys1501Ter)	BRCA1 (C1501* +75 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 617480	NM_007294.4(BRCA1):c.4356del (p.Ala1453fs)	BRCA1 (A1406fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GPathogenic/Likely pathogenic
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 37560	NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)	BRCA1, LOC126862571 (E1299fs +21 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55043	NM_007294.4(BRCA1):c.3901_3902del (p.Cys1300_Ser1301insTer)	BRCA1, LOC126862571	Deletion (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17673	NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)	BRCA1, LOC126862571 (S1253fs +21 more)	Microsatellite (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54978	NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)	BRCA1, LOC126862571 (Q1240* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37542	NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	BRCA1, LOC126862571 (V1234fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54947	NM_007294.4(BRCA1):c.3629_3630del (p.Glu1210fs)	BRCA1, LOC126862571 (E1210fs +21 more)	Microsatellite (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54885	NM_007294.4(BRCA1):c.3436_3439del (p.Cys1146fs)	BRCA1, LOC126862571 (C1146fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54749	NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs)	BRCA1 (H959fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 236270	NM_007294.4(BRCA1):c.2933dup (p.Tyr978Ter)	BRCA1 (Y931* +20 more)	Duplication (intron variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54673	NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)	BRCA1 (Q921* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37459	NM_007294.4(BRCA1):c.2269del (p.Val757fs)	BRCA1 (V757fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54413	NM_007294.4(BRCA1):c.1958_1961del (p.Lys653fs)	BRCA1 (K653fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37438	NM_007294.4(BRCA1):c.1961del (p.Lys654fs)	BRCA1 (K607fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 54226	NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)	BRCA1 (F414fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54159	NM_007294.4(BRCA1):c.1193C>A (p.Ser398Ter)	BRCA1 (S398* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54110	NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter)	BRCA1 (W353* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55735	NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs)	BRCA1 (Q237fs +19 more)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55738	NM_007294.4(BRCA1):c.850C>T (p.Gln284Ter)	BRCA1 (Q284* +19 more)	Single nucleotide variant (nonsense +2 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 (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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