ClinVar for PubMed (Select 21964575) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953252	NM_032043.3(BRIP1):c.1341-2A>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2953072	NM_032043.3(BRIP1):c.1794+2T>G	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2952105	NM_032043.3(BRIP1):c.463_464insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGATGATTTTC (p.Phe154_Gln155insArgProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleMetArgSerXaaXaaXaaXaaLysLysLysLysLysLysGluAsnAspAspPhe)	BRIP1	Insertion (inframe_insertion)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2951878	NM_032043.3(BRIP1):c.1182dup (p.Ala395fs)	BRIP1 (A395fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2951646	NM_032043.3(BRIP1):c.2102T>A (p.Leu701Ter)	BRIP1 (L701*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2951592	NM_032043.3(BRIP1):c.1795-2del	BRIP1	Deletion (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2951469	NM_032043.3(BRIP1):c.2493-3_2493-1del	BRIP1	Deletion (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2951398	NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG	BRIP1	Insertion (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2951385	NM_032043.3(BRIP1):c.303_309del (p.Asn101fs)	BRIP1 (N101fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2951300	NM_032043.3(BRIP1):c.1291del (p.Arg431fs)	BRIP1 (R431fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2949825	NM_032043.3(BRIP1):c.2169del (p.Ile724fs)	BRIP1 (I724fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2948808	NM_032043.3(BRIP1):c.2187del (p.Gly730fs)	BRIP1 (G730fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2948202	NM_032043.3(BRIP1):c.1404G>A (p.Trp468Ter)	BRIP1 (W468*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2946954	NM_032043.3(BRIP1):c.502del (p.Gln168fs)	BRIP1 (Q168fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2946081	NM_032043.3(BRIP1):c.2733del (p.Thr912fs)	BRIP1 (T912fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2945589	NM_032043.3(BRIP1):c.532del (p.Thr178fs)	BRIP1 (T178fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2945419	NM_032043.3(BRIP1):c.507+2T>A	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2943805	NM_032043.3(BRIP1):c.688del (p.Ser230fs)	BRIP1 (S230fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2943378	NM_032043.3(BRIP1):c.2831dup (p.Glu945fs)	BRIP1 (E945fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2942235	NM_032043.3(BRIP1):c.1850del (p.Leu617fs)	BRIP1 (L617fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2941783	NM_032043.3(BRIP1):c.2329dup (p.Arg777fs)	BRIP1 (R777fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2941389	NM_032043.3(BRIP1):c.985del (p.Gln329fs)	BRIP1 (Q329fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2940811	NM_032043.3(BRIP1):c.1474G>T (p.Gly492Ter)	BRIP1 (G492*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2937572	NM_032043.3(BRIP1):c.505C>T (p.Gln169Ter)	BRIP1 (Q169*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2937272	NM_032043.3(BRIP1):c.1584del (p.Gly529fs)	BRIP1 (G529fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2936988	NM_032043.3(BRIP1):c.1030_1049del (p.Gly344fs)	BRIP1 (G344fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2934867	NM_032043.3(BRIP1):c.2683del (p.Ser895fs)	BRIP1 (S895fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2933354	NM_032043.3(BRIP1):c.1935+1G>A	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2921972	NM_032043.3(BRIP1):c.2606del (p.Gln869fs)	BRIP1 (Q869fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2921574	NM_032043.3(BRIP1):c.1795-1G>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2774996	NM_032043.3(BRIP1):c.2156del (p.Leu719fs)	BRIP1 (L719fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +2 more	GPathogenic
Select item 2691154	NM_032043.3(BRIP1):c.637del (p.His213fs)	BRIP1 (H213fs)	Deletion (frameshift variant)	Breast and/or ovarian cancer +2 more	GPathogenic/Likely pathogenic
Select item 2626402	NM_032043.3(BRIP1):c.1469del (p.Leu490fs)	BRIP1 (L490fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2584333	NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)	BRIP1	Deletion (nonsense)	Hereditary breast ovarian cancer syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2584313	NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)	BRIP1 (K656*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2584277	NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)	BRIP1 (E501fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2583747	NM_032043.3(BRIP1):c.1870del (p.Ser624fs)	BRIP1 (S624fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2583734	NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)	BRIP1 (N429fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2583428	NM_032043.3(BRIP1):c.1141-2A>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2583408	NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)	BRIP1 (R798fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2583326	NM_032043.3(BRIP1):c.779del (p.Thr260fs)	BRIP1 (T260fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2573316	NM_032043.3(BRIP1):c.94-1G>A	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2443085	NM_032043.3(BRIP1):c.2120del (p.Arg707fs)	BRIP1 (R707fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2431263	NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)	BRIP1 (V687fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2428243	NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)	BRIP1 (K528*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic/Likely pathogenic
Select item 2427005	NC_000017.10:g.(?_59770781)_(59770883_?)dup	BRIP1	Duplication	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2427004	NC_000017.10:g.(?_59937147)_(59938900_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2427003	NC_000017.10:g.(?_59857612)_(59858376_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2427002	NC_000017.10:g.(?_59926480)_(59926627_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2427000	NC_000017.10:g.(?_59861718)_(59940920_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2426997	NC_000017.10:g.(?_59853752)_(59858376_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2426995	NC_000017.10:g.(?_59937147)_(59937278_?)del	BRIP1	Deletion	Familial cancer of breast +1 more	GPathogenic
Select item 2419145	NM_032043.3(BRIP1):c.1727del (p.Asn576fs)	BRIP1 (N576fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2138094	NM_032043.3(BRIP1):c.452del (p.Asn151fs)	BRIP1 (N151fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2129486	NM_032043.3(BRIP1):c.603del (p.Lys201_Ile202insTer)	BRIP1	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2129134	NM_032043.3(BRIP1):c.1104del (p.Tyr369fs)	BRIP1 (Y369fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2128785	NM_032043.3(BRIP1):c.1293del (p.Lys432fs)	BRIP1 (K432fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2126160	NM_032043.3(BRIP1):c.2692del (p.Asp898fs)	BRIP1 (D898fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2125369	NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)	BRIP1 (Q866*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2121747	NM_032043.3(BRIP1):c.1426dup (p.Thr476fs)	BRIP1 (T476fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2121737	NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)	BRIP1 (S215fs)	Insertion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2119753	NM_032043.3(BRIP1):c.2492+1G>T	BRIP1	Single nucleotide variant (splice donor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2113753	NM_032043.3(BRIP1):c.2665C>T (p.Gln889Ter)	BRIP1 (Q889*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2107419	NM_032043.3(BRIP1):c.297_298del (p.Met100fs)	BRIP1 (M100fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2099107	NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)	BRIP1 (Q126*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +1 more	GPathogenic
Select item 2084365	NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)	BRIP1 (W839*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2081696	NM_032043.3(BRIP1):c.1629-17_1652del	BRIP1	Deletion (splice acceptor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 2056147	NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)	BRIP1 (W708*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2044650	NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)	BRIP1 (S269*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 2036446	NM_032043.3(BRIP1):c.964del (p.Gln322fs)	BRIP1 (Q322fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2033974	NM_032043.3(BRIP1):c.511A>T (p.Arg171Ter)	BRIP1 (R171*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 2032391	NM_032043.3(BRIP1):c.314C>A (p.Ser105Ter)	BRIP1 (S105*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2030234	NM_032043.3(BRIP1):c.2247del (p.Gly750fs)	BRIP1 (G750fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2028444	NM_032043.3(BRIP1):c.1673G>A (p.Trp558Ter)	BRIP1 (W558*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2028056	NM_032043.3(BRIP1):c.919-1G>A	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 2020169	NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)	BRIP1 (Q903*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic
Select item 2017776	NM_032043.3(BRIP1):c.2058dup (p.Val687fs)	BRIP1 (V687fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2013656	NM_032043.3(BRIP1):c.1450dup (p.Thr484fs)	BRIP1 (T484fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2007406	NM_032043.3(BRIP1):c.2389A>T (p.Lys797Ter)	BRIP1 (K797*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 2007059	NM_032043.3(BRIP1):c.526_536del (p.Phe176fs)	BRIP1 (F176fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 2002563	NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)	BRIP1 (V180fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 1995037	NM_032043.3(BRIP1):c.118C>T (p.Gln40Ter)	BRIP1 (Q40*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +2 more	GPathogenic/Likely pathogenic
Select item 1927682	NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)	BRIP1 (Y313*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1910037	NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)	BRIP1 (Q491*)	Single nucleotide variant (nonsense)	Familial cancer of breast +1 more	GPathogenic
Select item 1896645	NM_032043.3(BRIP1):c.2492+2T>C	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1796007	NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)	BRIP1 (S930*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1794970	NM_032043.3(BRIP1):c.2705_2706del (p.Ile902fs)	BRIP1 (I902fs)	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1793295	NM_032043.3(BRIP1):c.2575+1G>C	BRIP1	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 1791359	NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)	BRIP1 (Q815*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1769067	NM_032043.3(BRIP1):c.128dup (p.Leu43fs)	BRIP1 (L43fs)	Duplication (frameshift variant)	Fanconi anemia complementation group J +2 more	GPathogenic/Likely pathogenic
Select item 1766505	NM_032043.3(BRIP1):c.93+2del	BRIP1	Deletion (splice donor variant)	Fanconi anemia complementation group J +2 more	GLikely pathogenic
Select item 1755529	NM_032043.3(BRIP1):c.680_681del (p.Gln227fs)	BRIP1 (Q227fs)	Deletion (frameshift variant)	Fanconi anemia complementation group J +2 more	GPathogenic
Select item 1713218	NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)	BRIP1 (Q947fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic
Select item 1709539	NM_032043.3(BRIP1):c.1167del (p.Val390fs)	BRIP1 (V390fs)	Deletion (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 1691984	NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)	BRIP1 (E795*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group J +4 more	GPathogenic/Likely pathogenic
Select item 1691978	NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)	BRIP1 (W468*)	Single nucleotide variant (nonsense)	Familial cancer of breast +2 more	GPathogenic/Likely pathogenic
Select item 1525843	NC_000017.10:g.(?_59861621)_(59937278_?)dup	BRIP1	Duplication	Fanconi anemia complementation group J +1 more	GLikely pathogenic
Select item 1518822	NM_032043.3(BRIP1):c.1473+1G>T	BRIP1	Single nucleotide variant (splice donor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 1518407	NM_032043.3(BRIP1):c.1141-2A>T	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic
Select item 1513481	NM_032043.3(BRIP1):c.1629-1G>C	BRIP1	Single nucleotide variant (splice acceptor variant)	Familial cancer of breast +1 more	GLikely pathogenic

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