ClinVar for MedGen (Select 151793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069068	NC_000017.10:g.(41267797_41276033)_(41277382_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3063931	NC_000017.10:g.(41199721_41201137)_(41203135_41209068)dup	BRCA1	Duplication	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3063906	NM_000059.4(BRCA2):c.5808_5809del (p.Met1936fs)	BRCA2 (M1936fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3063784	NC_000017.10:g.(?_41196311)_(41277382_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3023627	NM_000059.4(BRCA2):c.2987T>C (p.Leu996Pro)	BRCA2 (L996P)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3021677	NM_000059.4(BRCA2):c.10117C>G (p.Pro3373Ala)	BRCA2 (P3356A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3020015	NM_000059.4(BRCA2):c.3932A>C (p.Glu1311Ala)	BRCA2 (E1311A)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3019348	NM_000059.4(BRCA2):c.6937+6A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3018361	NM_007294.4(BRCA1):c.5075-15T>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3018219	NM_000059.4(BRCA2):c.9649-19G>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3018213	NM_000059.4(BRCA2):c.2398G>C (p.Gly800Arg)	BRCA2 (G800R)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	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 3014818	NM_007294.4(BRCA1):c.4859C>T (p.Thr1620Ile)	BRCA1 (T1466I +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3013738	NM_000059.4(BRCA2):c.632-20C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3013150	NM_000059.4(BRCA2):c.2710G>A (p.Gly904Arg)	BRCA2 (G904R)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3012647	NM_000059.4(BRCA2):c.2330A>T (p.Asp777Val)	BRCA2 (D777V)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3011690	NM_000059.4(BRCA2):c.4531G>C (p.Glu1511Gln)	BRCA2 (E1511Q)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3011583	NM_000059.4(BRCA2):c.1300A>G (p.Lys434Glu)	BRCA2 (K434E)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3010804	NM_000059.4(BRCA2):c.33_34delinsA (p.Phe11fs)	BRCA2 (F11fs)	Indel (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3010501	NM_007294.4(BRCA1):c.1791A>G (p.Glu597=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3010201	NM_000059.4(BRCA2):c.2923_2924delinsGA (p.Ile975Asp)	BRCA2 (I975D)	Indel (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3009679	NM_000059.4(BRCA2):c.7617+7G>A	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3009669	NM_000059.4(BRCA2):c.2747G>C (p.Cys916Ser)	BRCA2 (C916S)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
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 3008622	NM_000059.4(BRCA2):c.7318C>A (p.His2440Asn)	BRCA2 (H2408N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3008553	NM_000059.4(BRCA2):c.6155C>T (p.Ser2052Leu)	BRCA2 (S2052L)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3008299	NM_007294.4(BRCA1):c.4580A>C (p.Glu1527Ala)	BRCA1 (E1358A +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3008232	NM_000059.4(BRCA2):c.2176G>C (p.Val726Leu)	BRCA2 (V726L)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3008132	NM_007294.4(BRCA1):c.593+6_593+30del	BRCA1	Deletion (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3008063	NM_000059.4(BRCA2):c.6630A>G (p.Glu2210=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3007081	NM_007294.4(BRCA1):c.5468-12C>A	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3006968	NM_007294.4(BRCA1):c.593+6T>G	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3005582	NM_000059.4(BRCA2):c.3882A>G (p.Leu1294=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3005369	NM_000059.4(BRCA2):c.6325G>C (p.Val2109Leu)	BRCA2 (V2109L)	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3004081	NM_000059.4(BRCA2):c.68-6A>G	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3002798	NM_000059.4(BRCA2):c.2573G>C (p.Arg858Thr)	BRCA2 (R858T)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2999964	NM_000059.4(BRCA2):c.7731A>G (p.Lys2577=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2998939	NM_000059.4(BRCA2):c.9805dup (p.Arg3269fs)	BRCA2 (R3269fs +4 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2998611	NM_000059.4(BRCA2):c.5739T>C (p.Cys1913=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2996710	NM_000059.4(BRCA2):c.8546A>C (p.Lys2849Thr)	BRCA2 (K1205T +3 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 2994133	NM_000059.4(BRCA2):c.2880G>A (p.Lys960=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2994101	NM_000059.4(BRCA2):c.2260C>T (p.Gln754Ter)	BRCA2 (Q754*)	Single nucleotide variant (nonsense +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2993989	NM_000059.4(BRCA2):c.2523A>C (p.Arg841Ser)	BRCA2 (R841S)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2993856	NM_000059.4(BRCA2):c.2631A>G (p.Pro877=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2992774	NM_007294.4(BRCA1):c.4446T>A (p.Asp1482Glu)	BRCA1 (D1186E +75 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2991774	NM_007294.4(BRCA1):c.1846T>C (p.Ser616Pro)	BRCA1 (S320P +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2990785	NM_000059.4(BRCA2):c.4982_4984del (p.Tyr1661del)	BRCA2 (Y1661del)	Deletion (intron variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2989136	NM_007294.4(BRCA1):c.1909A>T (p.Thr637Ser)	BRCA1 (T549S +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2987788	NM_000059.4(BRCA2):c.3832_3837del (p.His1278_Asn1279del)	BRCA2	Deletion (inframe_deletion +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2986322	NM_000059.4(BRCA2):c.3704A>C (p.Gln1235Pro)	BRCA2 (Q1235P)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2985744	NM_000059.4(BRCA2):c.8521T>C (p.Phe2841Leu)	BRCA2 (F2841L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2985563	NM_000059.4(BRCA2):c.3216A>G (p.Leu1072=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2983224	NM_007294.4(BRCA1):c.476T>G (p.Leu159Arg)	BRCA1 (L89R +11 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2982382	NM_007294.4(BRCA1):c.1338_1339del (p.Arg446fs)	BRCA1 (R399fs +20 more)	Microsatellite (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2982381	NM_007294.4(BRCA1):c.4301del (p.Ser1434fs)	BRCA1 (S1387fs +2 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2982314	NM_000059.4(BRCA2):c.5633dup (p.Asn1878fs)	BRCA2 (N1878fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2982228	NM_007294.4(BRCA1):c.3013G>T (p.Glu1005Ter)	BRCA1 (E1005* +20 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2982191	NM_000059.4(BRCA2):c.5681_5682insAA (p.Tyr1894Ter)	BRCA2 (Y1894*)	Insertion (nonsense +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2982064	NM_000059.4(BRCA2):c.8932T>C (p.Ser2978Pro)	BRCA2 (S839P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2979394	NM_007294.4(BRCA1):c.1526C>T (p.Thr509Ile)	BRCA1 (T213I +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2976136	NM_000059.4(BRCA2):c.9698G>T (p.Cys3233Phe)	BRCA2 (C1094F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2973104	NM_000059.4(BRCA2):c.5751A>C (p.Ser1917=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2972699	NM_000059.4(BRCA2):c.8414dup (p.Leu2805fs)	BRCA2 (L2805fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2972171	NM_000059.4(BRCA2):c.7424A>G (p.Glu2475Gly)	BRCA2 (E2443G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2970146	NM_007294.4(BRCA1):c.5407-19T>C	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2967450	NM_000059.4(BRCA2):c.5615A>G (p.Lys1872Arg)	BRCA2 (K1872R)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2966207	NM_000059.4(BRCA2):c.3232G>A (p.Val1078Ile)	BRCA2 (V1078I)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2964428	NM_000059.4(BRCA2):c.4360C>T (p.Pro1454Ser)	BRCA2 (P1454S)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2963748	NM_000059.4(BRCA2):c.4701A>C (p.Leu1567=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2961738	NM_000059.4(BRCA2):c.7708_7716del (p.Lys2570_Ser2572del)	BRCA2	Deletion (inframe_deletion +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2961610	NM_007294.4(BRCA1):c.296del (p.Leu99fs)	BRCA1 (L29fs +4 more)	Deletion (frameshift variant +3 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2960231	NM_000059.4(BRCA2):c.485G>A (p.Gly162Glu)	BRCA2 (G162E +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2958207	NM_000059.4(BRCA2):c.8331+4A>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2957934	NM_007294.4(BRCA1):c.4763C>T (p.Ala1588Val)	BRCA1 (A1460V +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2955708	NM_000059.4(BRCA2):c.3988A>C (p.Asn1330His)	BRCA2 (N1330H)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2954773	NM_007294.4(BRCA1):c.5566C>G (p.Pro1856Ala)	BRCA1 (P1744A +80 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2919981	NM_007294.4(BRCA1):c.1515A>G (p.Lys505=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2917022	NM_000059.4(BRCA2):c.4607A>C (p.Lys1536Thr)	BRCA2 (K1536T)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2916908	NM_007294.4(BRCA1):c.442-9A>T	BRCA1	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2915514	NM_007294.4(BRCA1):c.2881A>G (p.Asn961Asp)	BRCA1 (N793D +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915513	NM_007294.4(BRCA1):c.3209C>A (p.Ala1070Glu)	BRCA1 (A1023E +20 more)	Single nucleotide variant (missense 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 2915510	NM_007294.4(BRCA1):c.4313C>T (p.Ala1438Val)	BRCA1 (A1348V +58 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915509	NM_007294.4(BRCA1):c.4760C>T (p.Ser1587Leu)	BRCA1 (S1290L +77 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915486	NM_000059.4(BRCA2):c.9241G>A (p.Val3081Ile)	BRCA2 (V3064I +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915484	NM_000059.4(BRCA2):c.8330A>G (p.Lys2777Arg)	BRCA2 (K1133R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915483	NM_000059.4(BRCA2):c.6808G>C (p.Gly2270Arg)	BRCA2 (G2270R)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915482	NM_000059.4(BRCA2):c.6533A>G (p.His2178Arg)	BRCA2 (H2178R)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2915481	NM_000059.4(BRCA2):c.1828A>C (p.Lys610Gln)	BRCA2 (K610Q)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2914954	NM_007294.4(BRCA1):c.1509G>C (p.Lys503Asn)	BRCA1 (K207N +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2913786	NM_000059.4(BRCA2):c.9502-20T>C	BRCA2	Single nucleotide variant (intron variant)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 2912371	NM_000059.4(BRCA2):c.6645C>A (p.Tyr2215Ter)	BRCA2 (Y2215*)	Single nucleotide variant (nonsense +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2912004	NM_007294.4(BRCA1):c.-19-12A>G	BRCA1	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2911153	NM_000059.4(BRCA2):c.5099G>A (p.Gly1700Asp)	BRCA2 (G1700D)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2910431	NM_007294.4(BRCA1):c.3168C>T (p.Ser1056=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
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 2910428	NM_007294.4(BRCA1):c.4656C>A (p.Tyr1552Ter)	BRCA1 (Y1505* +75 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 2910337	NM_000059.4(BRCA2):c.9154C>G (p.Arg3052Gly)	BRCA2 (R3020G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 2910335	NM_000059.4(BRCA2):c.6577G>A (p.Glu2193Lys)	BRCA2 (E2193K)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance

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