ClinVar for MedGen (Select 893358) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344855	NM_032043.3(BRIP1):c.2855T>C (p.Ile952Thr)	BRIP1 (I952T)	Single nucleotide variant (missense variant)	BRIP1-related disorder	GUncertain significance
Select item 3058295	NM_032043.3(BRIP1):c.2436T>C (p.Pro812=)	BRIP1	Single nucleotide variant (synonymous variant)	BRIP1-related disorder	GLikely benign
Select item 2692016	NM_032043.3(BRIP1):c.1935+22del	BRIP1	Deletion (intron variant)	not specified	GLikely benign
Select item 2632515	NM_032043.3(BRIP1):c.623A>G (p.Gln208Arg)	BRIP1 (Q208R)	Single nucleotide variant (missense variant)	BRIP1-related disorder	GUncertain significance
Select item 2630713	NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)	BRIP1 (T1116A)	Single nucleotide variant (missense variant)	BRIP1-related disorder +2 more	GUncertain significance
Select item 2583234	NM_032043.3(BRIP1):c.674dup (p.Asn225fs)	BRIP1 (N225fs)	Duplication (frameshift variant)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 1763793	NM_032043.3(BRIP1):c.1264C>G (p.Leu422Val)	BRIP1 (L422V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1046186	NM_032043.3(BRIP1):c.3196T>C (p.Ser1066Pro)	BRIP1 (S1066P)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +2 more	GConflicting classifications of pathogenicity
Select item 1005539	NM_032043.3(BRIP1):c.758A>G (p.His253Arg)	BRIP1 (H253R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 951059	NM_032043.3(BRIP1):c.2144A>G (p.His715Arg)	BRIP1 (H715R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 824006	NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val)	BRIP1 (I1209V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 630231	NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala)	BRIP1 (T1072A)	Single nucleotide variant (missense variant)	BRIP1-related disorder +3 more	GUncertain significance
Select item 530368	NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 530314	NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg)	BRIP1 (K1015R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 491432	NM_032043.3(BRIP1):c.2149C>T (p.Leu717=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 491426	NM_032043.3(BRIP1):c.1989C>G (p.Thr663=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 483194	NM_032043.3(BRIP1):c.2646T>C (p.Ala882=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 481655	NM_032043.3(BRIP1):c.1139G>A (p.Ser380Asn)	BRIP1 (S380N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 479454	NM_032043.3(BRIP1):c.1141-4A>G	BRIP1	Single nucleotide variant (intron variant)	Familial cancer of breast +2 more	GLikely benign
Select item 479433	NM_032043.3(BRIP1):c.94-4A>G	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 479410	NM_032043.3(BRIP1):c.3334G>T (p.Asp1112Tyr)	BRIP1 (D1112Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 461171	NM_032043.3(BRIP1):c.500C>T (p.Thr167Ile)	BRIP1 (T167I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 461149	NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile)	BRIP1 (T113I)	Single nucleotide variant (missense variant)	BRIP1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 461134	NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile)	BRIP1 (T1013I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 439032	NM_032043.3(BRIP1):c.93+4_93+7del	BRIP1	Deletion (splice donor variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 434539	NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)	BRIP1 (R581*)	Single nucleotide variant (nonsense)	Familial cancer of breast +5 more	GPathogenic
Select item 422038	NM_032043.3(BRIP1):c.2120G>A (p.Arg707His)	BRIP1 (R707H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 414691	NM_032043.3(BRIP1):c.690G>A (p.Ser230=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 414678	NM_032043.3(BRIP1):c.2492+8G>C	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 414668	NM_032043.3(BRIP1):c.507+9_507+10del	BRIP1	Microsatellite (intron variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 414664	NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +2 more	GBenign/Likely benign
Select item 407835	NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe)	BRIP1 (L340F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 392293	NM_032043.3(BRIP1):c.240T>G (p.Ala80=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 392283	NM_032043.3(BRIP1):c.1443T>C (p.Gly481=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 391127	NM_032043.3(BRIP1):c.2154G>A (p.Glu718=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 386142	NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr)	BRIP1 (R1154T)	Single nucleotide variant (missense variant)	Familial cancer of breast +3 more	GUncertain significance
Select item 386141	NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr)	BRIP1 (I1130T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 380323	NM_032043.3(BRIP1):c.-5G>A	BRIP1	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 379013	NM_032043.3(BRIP1):c.2098-3T>C	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 324348	NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	BRIP1 (A1081fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity
Select item 241654	NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr)	BRIP1 (H1088Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 241653	NM_032043.3(BRIP1):c.3243C>T (p.Ala1081=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 241651	NM_032043.3(BRIP1):c.3189G>A (p.Ser1063=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GBenign/Likely benign
Select item 241644	NM_032043.3(BRIP1):c.2739T>C (p.Ser913=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +2 more	GBenign/Likely benign
Select item 241642	NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	BRIP1	Deletion (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 241633	NM_032043.3(BRIP1):c.1935+7T>C	BRIP1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 241631	NM_032043.3(BRIP1):c.1798T>C (p.Phe600Leu)	BRIP1 (F600L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group J +3 more	GUncertain significance
Select item 241626	NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 241624	NM_032043.3(BRIP1):c.120A>G (p.Gln40=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +3 more	GBenign/Likely benign
Select item 234159	NM_032043.3(BRIP1):c.408A>G (p.Ala136=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 233865	NM_032043.3(BRIP1):c.1659A>G (p.Gln553=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GBenign/Likely benign
Select item 233003	NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln)	BRIP1 (E296Q)	Single nucleotide variant (missense variant)	BRIP1-related disorder +4 more	GUncertain significance
Select item 230642	NM_032043.3(BRIP1):c.595C>T (p.Leu199=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 230429	NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)	BRIP1 (E1027K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 230320	NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)	BRIP1 (R865W)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 230186	NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 230092	NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +5 more	GBenign/Likely benign
Select item 229761	NM_032043.3(BRIP1):c.590C>A (p.Ser197Tyr)	BRIP1 (S197Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 229712	NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	BRIP1 (Y1131fs)	Microsatellite (frameshift variant)	Fanconi anemia complementation group J +5 more	GLikely pathogenic
Select item 220014	NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)	BRIP1 (T613I)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 215950	NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)	BRIP1	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group J +5 more	GBenign/Likely benign
Select item 215947	NM_032043.3(BRIP1):c.1474-9T>G	BRIP1	Single nucleotide variant (intron variant)	Fanconi anemia complementation group J +1 more	GLikely benign
Select item 188402	NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del)	BRIP1 (A1125del)	Deletion (inframe_deletion)	Breast and/or ovarian cancer +5 more	GUncertain significance
Select item 187476	NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)	BRIP1 (E671*)	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 187396	NM_032043.3(BRIP1):c.206-2A>G	BRIP1	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group J +4 more	GConflicting classifications of pathogenicity
Select item 187079	NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 186933	NM_032043.3(BRIP1):c.1089C>T (p.Asp363=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 186617	NM_032043.3(BRIP1):c.638A>G (p.His213Arg)	BRIP1 (H213R)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 186411	NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)	BRIP1 (R162*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 186352	NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly)	BRIP1 (E1202G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 186335	NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)	BRIP1 (W1002fs)	Insertion (frameshift variant)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 186266	NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg)	BRIP1 (L1099R)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 186213	NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln)	BRIP1 (R403Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 186015	NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln)	BRIP1 (R865Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 185848	NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	BRIP1 (R251C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 185806	NM_032043.3(BRIP1):c.1890A>G (p.Thr630=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 185538	NM_032043.3(BRIP1):c.1474-3T>C	BRIP1	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 185275	NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 185226	NM_032043.3(BRIP1):c.2285G>A (p.Arg762His)	BRIP1 (R762H)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GUncertain significance
Select item 185173	NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 185090	NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)	BRIP1 (S1032R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 184964	NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 184936	NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe)	BRIP1 (L842F)	Single nucleotide variant (missense variant)	Familial cancer of breast +2 more	GUncertain significance
Select item 184786	NM_032043.3(BRIP1):c.984C>T (p.Phe328=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 184706	NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)	BRIP1 (I962T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 184395	NM_032043.3(BRIP1):c.249A>G (p.Gln83=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +3 more	GConflicting classifications of pathogenicity
Select item 184224	NM_032043.3(BRIP1):c.225C>T (p.Gly75=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 184212	NM_032043.3(BRIP1):c.297C>T (p.Asp99=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 183991	NM_032043.3(BRIP1):c.69G>A (p.Pro23=)	BRIP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 183986	NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 183895	NM_032043.3(BRIP1):c.702G>A (p.Lys234=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 183804	NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 182371	NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)	BRIP1 (T124A)	Single nucleotide variant (missense variant)	Ovarian neoplasm +4 more	GConflicting classifications of pathogenicity
Select item 182364	NM_032043.3(BRIP1):c.2097+8A>C	BRIP1	Single nucleotide variant	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 182361	NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)	BRIP1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 182359	NM_032043.3(BRIP1):c.852C>T (p.Val284=)	BRIP1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 182356	NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)	BRIP1	Single nucleotide variant (synonymous variant)	Familial cancer of breast +4 more	GBenign/Likely benign
Select item 182344	NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His)	BRIP1 (Y352H)	Single nucleotide variant (missense variant)	Familial cancer of breast +4 more	GUncertain significance
Select item 182337	NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)	BRIP1 (A1187T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 143021	NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr)	BRIP1 (D184Y)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance

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