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

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Items: 1 to 100 of 2005

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	BRCA1, LOC126862571 (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)	LOC126862571, BRCA1 (M1009L +21 more)	Single nucleotide variant (intron 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)	Breast-ovarian cancer, familial, susceptibility to, 1	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
Select item 3072354	NM_007294.4(BRCA1):c.3323T>C (p.Ile1108Thr)	LOC126862571, BRCA1 (I1019T +20 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1 +1 more	GUncertain significance
Select item 3069954	NM_007294.4(BRCA1):c.3686T>C (p.Leu1229Ser)	LOC126862571, BRCA1 (L1061S +21 more)	Single nucleotide variant (intron variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 3018206	NM_007294.4(BRCA1):c.3525T>C (p.Ala1175=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3009099	NM_007294.4(BRCA1):c.4035A>T (p.Glu1345Asp)	BRCA1, LOC126862571 (E1049D +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2996243	NM_007294.4(BRCA1):c.3305A>T (p.Asn1102Ile)	BRCA1, LOC126862571 (N1013I +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915512	NM_007294.4(BRCA1):c.3452A>T (p.Asp1151Val)	LOC126862571, BRCA1 (D1023V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2910430	NM_007294.4(BRCA1):c.3328_3329del (p.Lys1110fs)	BRCA1, LOC126862571 (K1063fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2905144	NM_007294.4(BRCA1):c.3883T>C (p.Leu1295=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2900152	NM_007294.4(BRCA1):c.3857G>A (p.Ser1286Asn)	BRCA1, LOC126862571 (S1158N +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2886229	NM_007294.4(BRCA1):c.3295C>G (p.Pro1099Ala)	BRCA1, LOC126862571 (P1028A +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2884071	NM_007294.4(BRCA1):c.3760A>T (p.Lys1254Ter)	BRCA1, LOC126862571 (K1183* +21 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic
Select item 2871064	NM_007294.4(BRCA1):c.3634T>G (p.Ser1212Ala)	BRCA1, LOC126862571 (S1100A +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2865336	NM_007294.4(BRCA1):c.-20+10T>C	BRCA1, LOC111589215	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2861842	NM_007294.4(BRCA1):c.4060A>G (p.Asn1354Asp)	BRCA1, LOC126862571 (N1226D +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2860134	NM_007294.4(BRCA1):c.3214C>A (p.Leu1072Ile)	BRCA1, LOC126862571 (L1004I +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2851139	NM_007294.4(BRCA1):c.3979C>A (p.Gln1327Lys)	BRCA1, LOC126862571 (Q1031K +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2847355	NM_007294.4(BRCA1):c.3870dup (p.Cys1291fs)	BRCA1, LOC126862571 (C1180fs +21 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2846188	NM_007294.4(BRCA1):c.3494T>C (p.Phe1165Ser)	BRCA1, LOC126862571 (F1037S +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2846157	NM_007294.4(BRCA1):c.4056A>G (p.Glu1352=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2839251	NM_007294.4(BRCA1):c.3599A>C (p.Gln1200Pro)	BRCA1, LOC126862571 (Q1073P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2839250	NM_007294.4(BRCA1):c.3424G>A (p.Ala1142Thr)	BRCA1, LOC126862571 (A1015T +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2839096	NM_007294.4(BRCA1):c.3317C>T (p.Pro1106Leu)	BRCA1, LOC126862571 (P1035L +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2837926	NM_007294.4(BRCA1):c.3546_3548del (p.Lys1183del)	BRCA1, LOC126862571 (K1094del +21 more)	Deletion (inframe_deletion +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2837646	NM_007294.4(BRCA1):c.3560G>T (p.Ser1187Ile)	BRCA1, LOC126862571 (S1076I +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2833962	NM_007294.4(BRCA1):c.3311A>G (p.Lys1104Arg)	BRCA1, LOC126862571 (K1037R +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2832858	NM_007294.4(BRCA1):c.3497C>A (p.Ala1166Asp)	BRCA1, LOC126862571 (A1098D +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2832857	NM_007294.4(BRCA1):c.3499del (p.Glu1167fs)	BRCA1, LOC126862571 (E1039fs +21 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2828302	NM_007294.4(BRCA1):c.4096+19T>C	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2827172	NM_007294.4(BRCA1):c.3415dup (p.Ser1139fs)	BRCA1, LOC126862571 (S1011fs +21 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2824395	NM_007294.4(BRCA1):c.3773_3781dup (p.Leu1261Ter)	BRCA1, LOC126862571 (L1093* +21 more)	Duplication (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2818206	NM_007294.4(BRCA1):c.3224A>G (p.Asn1075Ser)	BRCA1, LOC126862571 (N1004S +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2818028	NM_007294.4(BRCA1):c.4096+13G>A	BRCA1, LOC126862571	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2816063	NM_007294.4(BRCA1):c.3721T>C (p.Ser1241Pro)	BRCA1, LOC126862571 (S1113P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 2814991	NM_007294.4(BRCA1):c.4073A>T (p.Glu1358Val)	BRCA1, LOC126862571 (E1190V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2812748	NM_007294.4(BRCA1):c.3547_3560del (p.Lys1183fs)	BRCA1, LOC126862571 (K1055fs +21 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2811475	NM_007294.4(BRCA1):c.3540C>A (p.Ser1180Arg)	BRCA1, LOC126862571 (S1012R +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2811183	NM_007294.4(BRCA1):c.3515A>C (p.Glu1172Ala)	BRCA1, LOC126862571 (E1084A +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2810882	NM_007294.4(BRCA1):c.3225C>T (p.Asn1075=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2774849	NM_007294.4(BRCA1):c.3261G>T (p.Gly1087=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774848	NM_007294.4(BRCA1):c.3348A>T (p.Val1116=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2774845	NM_007294.4(BRCA1):c.3905A>G (p.Glu1302Gly)	LOC126862571, BRCA1 (E1191G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774844	NM_007294.4(BRCA1):c.3910G>C (p.Glu1304Gln)	BRCA1, LOC126862571 (E1136Q +21 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2774842	NM_007294.4(BRCA1):c.3963C>T (p.Ser1321=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2774841	NM_007294.4(BRCA1):c.4036G>T (p.Glu1346Ter)	BRCA1, LOC126862571 (E1050* +21 more)	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2772201	NM_007294.4(BRCA1):c.3498T>G (p.Ala1166=)	LOC126862571, BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2771887	NM_007294.4(BRCA1):c.3902G>T (p.Ser1301Ile)	BRCA1, LOC126862571 (S1133I +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2769319	NM_007294.4(BRCA1):c.3239dup (p.Leu1080fs)	BRCA1, LOC126862571 (L1012fs +20 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2765028	NM_007294.4(BRCA1):c.3299G>A (p.Gly1100Glu)	BRCA1, LOC126862571 (G1073E +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2760060	NM_007294.4(BRCA1):c.3692T>C (p.Phe1231Ser)	BRCA1, LOC126862571 (F1161S +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2757680	NM_007294.4(BRCA1):c.3941A>G (p.Asp1314Gly)	BRCA1, LOC126862571 (D1018G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2757418	NM_007294.4(BRCA1):c.3570T>C (p.Pro1190=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2757403	NM_007294.4(BRCA1):c.3271C>T (p.Pro1091Ser)	BRCA1, LOC126862571 (P1023S +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2756472	NM_007294.4(BRCA1):c.3938A>C (p.Gln1313Pro)	BRCA1, LOC126862571 (Q1224P +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 2755843	NM_007294.4(BRCA1):c.3244_3247del (p.Ala1082fs)	BRCA1, LOC126862571 (A1014fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2754777	NM_007294.4(BRCA1):c.3923C>T (p.Ala1308Val)	BRCA1, LOC126862571 (A1196V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2751150	NM_007294.4(BRCA1):c.3643A>T (p.Asn1215Tyr)	BRCA1, LOC126862571 (N1047Y +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2749950	NM_007294.4(BRCA1):c.3231del (p.Pro1078fs)	BRCA1, LOC126862571 (P1011fs +20 more)	Deletion (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2748795	NM_007294.4(BRCA1):c.3749A>G (p.Glu1250Gly)	BRCA1, LOC126862571 (E1183G +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2744384	NM_007294.4(BRCA1):c.3624A>G (p.Lys1208=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2743875	NM_007294.4(BRCA1):c.3356C>T (p.Thr1119Ile)	BRCA1, LOC126862571 (T1030I +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2742822	NM_007294.4(BRCA1):c.3311_3314dup (p.His1105fs)	BRCA1, LOC126862571 (H1017fs +20 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2731592	NM_007294.4(BRCA1):c.3564G>A (p.Arg1188=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2710095	NM_007294.4(BRCA1):c.3978T>C (p.His1326=)	BRCA1, LOC126862571	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2709217	NM_007294.4(BRCA1):c.3593dup (p.Leu1198fs)	BRCA1, LOC126862571 (L1127fs +21 more)	Duplication (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2708101	NM_007294.4(BRCA1):c.3755del (p.Leu1252fs)	BRCA1, LOC126862571 (L1084fs +21 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2707429	NM_007294.4(BRCA1):c.3558dup (p.Ser1187Ter)	BRCA1, LOC126862571 (S1019* +21 more)	Duplication (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2702784	NM_007294.4(BRCA1):c.3629A>T (p.Glu1210Val)	BRCA1, LOC126862571 (E1083V +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2700224	NM_007294.4(BRCA1):c.3282T>C (p.Tyr1094=)	BRCA1, LOC126862571	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2698570	NM_007294.4(BRCA1):c.3809G>T (p.Cys1270Phe)	BRCA1, LOC126862571 (C1158F +21 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2692277	NM_007294.4(BRCA1):c.3353dup (p.Thr1119fs)	LOC126862571, BRCA1 (T1007fs +20 more)	Duplication (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692275	NM_007294.4(BRCA1):c.3538A>C (p.Ser1180Arg)	BRCA1, LOC126862571 (S1012R +21 more)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GUncertain significance
Select item 2692274	NM_007294.4(BRCA1):c.3549del (p.Gly1184fs)	BRCA1, LOC126862571 (G1016fs +21 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2692273	NM_007294.4(BRCA1):c.3789_3790delinsTT (p.Leu1263_Lys1264delinsPheTer)	BRCA1, LOC126862571	Indel (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2687847	NM_007294.4(BRCA1):c.4321G>A (p.Asp1441Asn)	BRCA1 (D1145N +58 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 2682152	NM_007294.4(BRCA1):c.2386A>G (p.Thr796Ala)	BRCA1 (T500A +20 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2682151	NM_007294.4(BRCA1):c.2278dup (p.Thr760fs)	BRCA1 (T464fs +20 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2682150	NM_007294.4(BRCA1):c.2206G>T (p.Glu736Ter)	BRCA1 (E689* +20 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic

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