ClinVar for MedGen (Select 151793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376536	NM_000059.4(BRCA2):c.9221T>C (p.Leu3074Pro)	BRCA2 (L1430P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3376486	NM_000059.4(BRCA2):c.4855_4858del (p.Asn1619fs)	BRCA2 (N1619fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3375018	NC_000013.10:g.(32890665_32893213)_(32893463_32899212)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3374858	NM_000465.4(BARD1):c.1108del (p.Arg370fs)	BARD1 (R351fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3362808	NM_024675.4(PALB2):c.3126T>A (p.Thr1042=)	PALB2	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3362807	NM_032043.3(BRIP1):c.1629-3_1634del	BRIP1	Deletion (splice acceptor variant)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3362806	NM_032043.3(BRIP1):c.3250dup (p.Thr1084fs)	BRIP1 (T1084fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3362805	NM_007294.4(BRCA1):c.5564_5566delinsAA (p.Ile1855fs)	BRCA1 (I1558fs +80 more)	Indel (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3362386	NM_007294.4(BRCA1):c.658del (p.Ser220fs)	BRCA1 (S149fs +11 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3340192	NM_000059.4(BRCA2):c.794-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 3339957	NC_000013.10:g.(?_32889644)_(32974406_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3339773	NM_002878.4(RAD51D):c.346-2A>G	RAD51D, RAD51L3-RFFL	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3339662	NC_000013.10:g.(?_32889644)_(32890665_32893213)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3339350	NC_000017.10:g.(56787352_56798106)_(56812973_?)del	RAD51C	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3339084	NM_000059.4(BRCA2):c.2113G>T (p.Glu705Ter)	BRCA2 (E705*)	Single nucleotide variant (nonsense +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3338418	NM_007294.4(BRCA1):c.5526dup (p.Ala1843fs)	BRCA1 (A1546fs +80 more)	Duplication (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3338012	NM_007294.4(BRCA1):c.3190A>C (p.Ser1064Arg)	BRCA1 (S1016R +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3337985	NM_007294.4(BRCA1):c.981del (p.Cys328fs)	BRCA1 (C160fs +20 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3336068	NM_000059.4(BRCA2):c.9019A>T (p.Arg3007Ter)	BRCA2 (R3007*)	Single nucleotide variant (nonsense)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3336051	NC_000017.10:g.(41251898_41256138)_(41277382_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3335931	NM_000051.4(ATM):c.1158GAA[1] (p.Lys388del)	ATM (K388del)	Microsatellite (inframe_deletion)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3335930	NM_000179.3(MSH6):c.2536G>A (p.Glu846Lys)	MSH6 (E544K +8 more)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3257752	NM_000059.4(BRCA2):c.9458_9459delinsA	BRCA2	Deletion (frameshift variant +2 more)	Neoplasm	OOncogenic
Select item 3254395	NM_000059.4(BRCA2):c.5573_5574del (p.Thr1858fs)	BRCA2 (T1858fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2 +1 more	GPathogenic
Select item 3251861	NM_000059.4(BRCA2):c.5729_5733del (p.Asn1910fs)	BRCA2 (N1910fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3251452	NC_000017.10:g.(41234593_41242960)_(41277382_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244191	NC_000013.10:g.(?_32900944)_(32913477_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244190	NC_000013.10:g.(?_32900942)_(32913475_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244189	NC_000013.10:g.(?_32953878)_(32954161_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244188	NC_000013.10:g.(?_32946992)_(32972329_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244187	NC_000013.10:g.(?_32944608)_(32946774_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244186	NC_000013.10:g.(?_32930712)_(32933142_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244185	NC_000013.10:g.(?_32924123)_(32930706_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244184	NC_000013.10:g.(?_32911898)_(32932452_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244182	NC_000013.10:g.(?_32913817)_(32921389_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244181	NC_000013.10:g.(?_32913814)_(32921386_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244180	NC_000013.10:g.(?_32911939)_(32918919_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244179	NC_000013.10:g.(?_32900637)_(32901212_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244178	NC_000013.10:g.(?_32915303)_(32916862_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244177	NC_000013.10:g.(?_32910338)_(32915062_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244176	NC_000013.10:g.(?_32936534)_(32937690_?)dup	BRCA2	Duplication	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244175	NC_000013.10:g.(?_32920944)_(32921053_?)dup	BRCA2	Duplication	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3244174	NC_000013.10:g.(?_32905036)_(32907544_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244173	NC_000013.10:g.(?_32903560)_(32905187_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3244171	NC_000013.10:g.(?_32893194)_(32937690_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244170	NC_000013.10:g.(?_32892159)_(32912422_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244169	NC_000013.10:g.(?_32971015)_(32972907_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244168	NC_000013.10:g.(?_32948881)_(32958479_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244167	NC_000013.10:g.(?_32889617)_(32954302_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244166	NC_000013.10:g.(?_32889548)_(32921053_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3244165	NC_000013.10:g.(?_32931873)_(32932072_?)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3243027	NC_000017.10:g.(?_41249295)_(41320078_?)dup	BRCA1, NBR2	Duplication	Hereditary breast ovarian cancer syndrome	GUncertain significance
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 3242979	NC_000017.10:g.(?_41277346)_(41278211_?)del	BRCA1, NBR2	Deletion	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3242978	NC_000017.10:g.(?_41197695)_(41277500_?)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3236852	NM_000059.4(BRCA2):c.8085del (p.Ser2695_Leu2696insTer)	BRCA2	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3236728	NM_058216.3(RAD51C):c.404+44A>G	RAD51C	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 3233900	NC_000017.10:g.(41209153_41215349)_(41234593_41242960)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic

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