ClinVar for PubMed (Select 21324516) - ClinVar

Links from PubMed

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1515959	NM_007294.4(BRCA1):c.4986+6T>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1074104	NC_000013.10:g.(?_32930545)_(32932086_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 1066372	NC_000017.10:g.(?_41258453)_(41258570_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 993167	NM_007294.4(BRCA1):c.5333_5406del (p.Asp1778fs)	BRCA1 (D1731fs +3 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 584953	NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)	BRCA1 (Y608fs +20 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 440438	NC_000017.11:g.(43047704_43049120)_(43049195_43051062)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 267555	NM_007294.4(BRCA1):c.4675+2T>C	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic
Select item 266506	NM_007294.4(BRCA1):c.4987_5074del (p.Val1665Serfs)	BRCA1	Deletion (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 254516	NM_000059.4(BRCA2):c.3295del (p.Ser1099fs)	BRCA2 (S1099fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 252396	NM_007294.4(BRCA1):c.4675+2T>G	BRCA1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 245755	NM_007294.4(BRCA1):c.135-1G>A	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 55744	NM_007294.4(BRCA1):c.895_896del (p.Val299fs)	BRCA1 (V299fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55683	NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer)	BRCA1	Deletion (nonsense +2 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 55398	NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu)	BRCA1 (R1699L +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GLikely pathogenic
Select item 55397	NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)	BRCA1 (R1699P +78 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 55344	NM_007294.4(BRCA1):c.4986+6T>G	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 55256	NM_007294.4(BRCA1):c.4675+1G>A	BRCA1	Single nucleotide variant (splice donor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54821	NM_007294.4(BRCA1):c.3288_3289del (p.Leu1098fs)	BRCA1, LOC126862571 (L1098fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54744	NM_007294.4(BRCA1):c.2999del (p.Glu1000fs)	BRCA1 (E1000fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54694	NM_007294.4(BRCA1):c.2834_2836delinsC (p.Ser945fs)	BRCA1 (S898fs +20 more)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54656	NM_007294.4(BRCA1):c.2719_2722del (p.Glu907fs)	BRCA1 (E860fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54600	NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs)	BRCA1 (Q855fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54540	NM_007294.4(BRCA1):c.2338C>T (p.Gln780Ter)	BRCA1 (Q780* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54442	NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter)	BRCA1 (K679* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54417	NM_007294.4(BRCA1):c.1961dup (p.Tyr655fs)	BRCA1 (Y608fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54349	NM_007294.4(BRCA1):c.178C>T (p.Gln60Ter)	BRCA1 (Q60* +1 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54271	NM_007294.4(BRCA1):c.1499del (p.Asn500fs)	BRCA1 (N453fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 54190	NM_007294.4(BRCA1):c.1297del (p.Ala433fs)	BRCA1 (A386fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 52888	NM_000059.4(BRCA2):c.9666del (p.Cys3222fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52556	NM_000059.4(BRCA2):c.8340_8343del (p.Asn2781fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 52234	NM_000059.4(BRCA2):c.6996del (p.Cys2332fs)	BRCA2 (C2332fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51952	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2 (E1953*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51842	NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter)	BRCA2 (Q1782*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51781	NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)	BRCA2 (S1720fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51730	NM_000059.4(BRCA2):c.4859T>G (p.Leu1620Ter)	BRCA2 (L1620*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51653	NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs)	BRCA2 (E1493fs)	Microsatellite (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 51523	NM_000059.4(BRCA2):c.3778_3779del (p.Leu1260fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
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 51266	NM_000059.4(BRCA2):c.2287del (p.His763fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38253	NM_000059.4(BRCA2):c.9599C>G (p.Ser3200Ter)	BRCA2 (S3200*)	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 38169	NM_000059.4(BRCA2):c.8575del (p.Gln2859fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	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 38060	NM_000059.4(BRCA2):c.6644_6647del (p.Tyr2215fs)	BRCA2	Deletion (frameshift variant)	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 37959	NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)	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 37929	NM_000059.4(BRCA2):c.4876_4877del (p.Asn1626fs)	BRCA2 (N1626fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37915	NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37913	NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37846	NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37793	NM_000059.4(BRCA2):c.2588dup (p.Asn863fs)	BRCA2 (N863fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37784	NM_000059.4(BRCA2):c.2409T>G (p.Tyr803Ter)	BRCA2 (Y803*)	Single nucleotide variant (nonsense)	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 37737	NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs)	BRCA2 (K437fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37735	NM_000059.4(BRCA2):c.1265del (p.Asn422fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37708	NM_007294.4(BRCA1):c.929del (p.Gln310fs)	BRCA1 (Q263fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37698	NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)	BRCA1 (S220fs +19 more)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37657	NM_007294.4(BRCA1):c.5335del (p.Gln1779fs)	BRCA1 (Q1732fs +3 more)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37620	NM_007294.4(BRCA1):c.4986+6T>C	BRCA1	Single nucleotide variant (intron variant)	Breast and/or ovarian cancer +4 more	GPathogenic/Likely pathogenic
Select item 37598	NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	BRCA1 (R1495M +75 more)	Single nucleotide variant (missense variant +1 more)	Breast and/or ovarian cancer +6 more	GPathogenic
Select item 37542	NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)	BRCA1, LOC126862571 (V1234fs +21 more)	Microsatellite (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37535	NM_007294.4(BRCA1):c.3648dup (p.Ser1217fs)	BRCA1, LOC126862571 (S1170fs +21 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 37493	NM_007294.4(BRCA1):c.2934T>G (p.Tyr978Ter)	BRCA1 (Y978* +20 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37474	NM_007294.4(BRCA1):c.2515del (p.His839fs)	BRCA1 (H839fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37444	NM_007294.4(BRCA1):c.2071del (p.Arg691fs)	BRCA1 (R691fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37435	NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)	BRCA1 (K606fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37406	NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)	BRCA1	Microsatellite (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 37404	NM_007294.4(BRCA1):c.135-1G>T	BRCA1	Single nucleotide variant (splice acceptor variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
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
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 17675	NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)	BRCA1 (R1443* +58 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 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 17671	NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter)	BRCA1, LOC126862571 (R1203* +21 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17667	NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)	BRCA1 (K894fs +20 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17665	NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)	BRCA1 (L345fs +20 more)	Deletion (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 17662	NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	BRCA1 (E23fs)	Microsatellite (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic FDA Recognized database
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 9328	NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs)	BRCA2 (E2846fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
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 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 9319	NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9318	NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from PubMed

Items: 91