Related gene-specific medical variations for Gene (Select 672) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362166	NM_007294.4(BRCA1):c.1914A>T (p.Glu638Asp)	BRCA1 (E342D +20 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361704	NM_007294.4(BRCA1):c.2349C>T (p.Ile783=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3361703	NM_007294.4(BRCA1):c.2305A>C (p.Ile769Leu)	BRCA1 (I473L +20 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359763	NM_007294.4(BRCA1):c.302-10_302-5delinsAATTTA	BRCA1	Indel (intron variant)	not provided	GUncertain significance
Select item 3340195	NM_007294.4(BRCA1):c.3751T>A (p.Cys1251Ser)	BRCA1, LOC126862571 (C1083S +21 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339194	NM_007294.4(BRCA1):c.4043G>A (p.Gly1348Glu)	BRCA1, LOC126862571 (G1052E +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337554	NM_007294.4(BRCA1):c.3771_3775del (p.Glu1258fs)	BRCA1, LOC126862571 (E1090fs +21 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3336970	NM_007294.4(BRCA1):c.3941_3942insC (p.Pro1315fs)	BRCA1, LOC126862571 (P1019fs +21 more)	Insertion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3336958	NM_007294.3:c.134+3249_548-657del	BRCA1	Deletion	not provided	GLikely pathogenic
Select item 3336953	NM_007294.3:c.134+2574_5275dup	BRCA1	Duplication	not provided	GLikely pathogenic
Select item 3261497	NM_007294.4(BRCA1):c.3382C>G (p.Leu1128Val)	BRCA1, LOC126862571 (L1000V +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261492	NM_007294.4(BRCA1):c.3261G>A (p.Gly1087=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261483	NM_007294.3:c.4987-9_4987-8insALU	BRCA1	Insertion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261481	NM_007294.4(BRCA1):c.3980del (p.Gln1327fs)	BRCA1, LOC126862571 (Q1280fs +21 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3261475	NM_007294.4(BRCA1):c.3569C>G (p.Pro1190Arg)	BRCA1, LOC126862571 (P1062R +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261464	NM_007294.4(BRCA1):c.3461T>C (p.Leu1154Ser)	BRCA1, LOC126862571 (L1087S +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3261458	NM_007294.4(BRCA1):c.4077A>G (p.Gln1359=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3261450	NM_007294.3:c.3122_3123insALU	BRCA1	Insertion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3257800	NM_007294.4(BRCA1):c.3466del (p.Asp1156fs)	BRCA1, LOC126862571 (D1028fs +21 more)	Deletion (frameshift variant +1 more)	Neoplasm	OLikely oncogenic
Select item 3254361	NM_007294.4(BRCA1):c.3702_3715delinsCTATGC (p.Asn1235fs)	BRCA1, LOC126862571 (N1067fs +21 more)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3254360	NM_007294.4(BRCA1):c.3713_3716del (p.Pro1238fs)	BRCA1, LOC126862571 (P1070fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3243026	NC_000017.10:g.(?_41247884)_(41252753_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3243025	NC_000017.10:g.(?_41249867)_(41256183_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3243024	NC_000017.10:g.(?_41249860)_(41256183_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3243023	NC_000017.10:g.(?_41245486)_(41260384_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243022	NC_000017.10:g.(?_41197728)_(41202245_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3243021	NC_000017.10:g.(?_41222963)_(41230954_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243019	NC_000017.10:g.(?_41211000)_(41243958_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243018	NC_000017.10:g.(?_41232561)_(41244132_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243017	NC_000017.10:g.(?_41242725)_(41243458_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243016	NC_000017.10:g.(?_41242664)_(41246581_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243015	NC_000017.10:g.(?_41236868)_(41246163_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243014	NC_000017.10:g.(?_41251627)_(41251803_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243013	NC_000017.10:g.(?_41266736)_(41267772_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243012	NC_000017.10:g.(?_41196280)_(41197785_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243011	NC_000017.10:g.(?_41196279)_(41197784_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243010	NC_000017.10:g.(?_41205887)_(41209133_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243008	NC_000017.10:g.(?_41242941)_(41251921_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243007	NC_000017.10:g.(?_41196353)_(41199745_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243006	NC_000017.10:g.(?_41201118)_(41209172_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243005	NC_000017.10:g.(?_41209048)_(41219732_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243004	NC_000017.10:g.(?_41219605)_(41223340_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243003	NC_000017.10:g.(?_41222925)_(41228666_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243002	NC_000017.10:g.(?_41199640)_(41277500_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243001	NC_000017.10:g.(?_41275982)_(41277500_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3243000	NC_000017.10:g.(?_41196353)_(41197839_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3242999	NC_000017.10:g.(?_41199640)_(41199745_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3242997	NC_000017.10:g.(?_41209049)_(41209172_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3242996	NC_000017.10:g.(?_41197695)_(41277500_?)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3242995	NC_000017.10:g.(?_41197637)_(41247959_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242994	NC_000017.10:g.(?_41215330)_(41249326_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242993	NC_000017.10:g.(?_41238856)_(41249326_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242992	NC_000017.10:g.(?_41258453)_(41267816_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242991	NC_000017.10:g.(?_41197695)_(41199745_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242990	NC_000017.10:g.(?_41197695)_(41203154_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242989	NC_000017.10:g.(?_41215330)_(41215996_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242988	NC_000017.10:g.(?_41209048)_(41223340_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242986	NC_000017.10:g.(?_41196353)_(41228651_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242985	NC_000017.10:g.(?_41209049)_(41228666_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242984	NC_000017.10:g.(?_41215330)_(41238856_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242983	NC_000017.10:g.(?_41251772)_(41251917_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242982	NC_000017.10:g.(?_41219605)_(41221064_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242981	NC_000017.10:g.(?_41222925)_(41223275_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242980	NC_000017.10:g.(?_41228485)_(41228666_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3242978	NC_000017.10:g.(?_41197695)_(41277500_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3240945	NM_007294.4(BRCA1):c.4509dup (p.Leu1504fs)	BRCA1 (L1207fs +75 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely pathogenic
Select item 3240944	NM_007294.4(BRCA1):c.520C>G (p.Gln174Glu)	BRCA1 (Q103E +11 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3240942	NM_007294.4(BRCA1):c.4430T>G (p.Phe1477Cys)	BRCA1 (F1180C +75 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3240941	NM_007294.4(BRCA1):c.297G>C (p.Leu99Phe)	BRCA1 (L29F +4 more)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3240940	NM_007294.4(BRCA1):c.642T>G (p.Asp214Glu)	BRCA1 (D143E +11 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3240939	NM_007294.4(BRCA1):c.670+46G>A	BRCA1	Single nucleotide variant (intron variant)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3240938	NM_007294.4(BRCA1):c.1535_1536insATGA (p.Leu512_His513insTer)	BRCA1	Insertion (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3239389	NM_007294.4(BRCA1):c.4062T>C (p.Asn1354=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3236920	NM_007294.4:c.(80+1_81-1)_(4986+1_4987-1)del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236919	NM_007294.4:c.(5152-1_5153+1)_(5193+1_5194-1)del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236917	NM_007294.4:c.(4096+1_4097-1)_(4185+1_4186-1)del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3236916	NM_007294.4:c.(80+1_81-1)_(134+1_135-1)del	BRCA1	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3226178	NM_007294.3:c.-76154_4890del	BRCA1	Deletion	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3226177	NM_007294.3:c.671-29_671-28insALU	BRCA1	Insertion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226150	NM_007294.4(BRCA1):c.4068A>G (p.Gln1356=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226149	NM_007294.4(BRCA1):c.4041A>G (p.Arg1347=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226148	NM_007294.4(BRCA1):c.3935_3938del (p.Thr1312fs)	BRCA1, LOC126862571 (T1016fs +21 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3226147	NM_007294.4(BRCA1):c.3920C>T (p.Thr1307Ile)	LOC126862571, BRCA1 (T1011I +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226145	NM_007294.4(BRCA1):c.3808T>G (p.Cys1270Gly)	BRCA1, LOC126862571 (C1102G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226143	NM_007294.4(BRCA1):c.3795_3797del (p.Ser1266del)	BRCA1, LOC126862571 (S1098del +21 more)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226141	NM_007294.4(BRCA1):c.3682C>A (p.His1228Asn)	BRCA1, LOC126862571 (H1060N +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226140	NM_007294.4(BRCA1):c.3676T>G (p.Phe1226Val)	BRCA1, LOC126862571 (F1058V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226139	NM_007294.4(BRCA1):c.3538del (p.Ser1180fs)	BRCA1, LOC126862571 (S1012fs +21 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3226138	NM_007294.4(BRCA1):c.3484G>A (p.Asp1162Asn)	BRCA1, LOC126862571 (D1034N +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3226137	NM_007294.4(BRCA1):c.3467A>G (p.Asp1156Gly)	LOC126862571, BRCA1 (D1028G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3226136	NM_007294.4(BRCA1):c.3352C>G (p.Gln1118Glu)	BRCA1, LOC126862571 (Q1006E +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3148667	NM_007294.4(BRCA1):c.3782delinsATA (p.Leu1261fs)	BRCA1, LOC126862571 (L1193fs +21 more)	Indel (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3148649	NM_007294.4(BRCA1):c.4086_4088delinsATA (p.Asp1362_Ser1363delinsGluTer)	BRCA1, LOC126862571	Indel (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3074857	NM_007294.4(BRCA1):c.3421C>G (p.His1141Asp)	LOC126862571, BRCA1 (H1013D +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3074567	NM_007294.4(BRCA1):c.3409A>T (p.Met1137Leu)	BRCA1, LOC126862571 (M1009L +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3074391	NM_007294.4(BRCA1):c.3680A>T (p.Gln1227Leu)	BRCA1, LOC126862571 (Q1059L +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3074307	NM_007294.4(BRCA1):c.3921T>C (p.Thr1307=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 3073714	NM_007294.4(BRCA1):c.3960T>G (p.Ser1320=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign
Select item 3072980	NM_007294.4(BRCA1):c.3955G>T (p.Gly1319Cys)	BRCA1, LOC126862571 (G1023C +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3072714	NM_007294.4(BRCA1):c.3837A>C (p.Ala1279=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GLikely benign

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