ClinVar for MedGen (Select 151793) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3233882	NM_033109.5(PNPT1):c.1002T>G (p.Tyr334Ter)	PNPT1 (Y334*)	Single nucleotide variant (nonsense)	PNPT1-related disorder +1 more	GPathogenic
Select item 3233748	NM_170741.4(KCNJ16):c.255G>A (p.Trp85Ter)	KCNJ16 (W85*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation +2 more	GPathogenic
Select item 3233739	NC_000017.10:g.(41251898_41256138)_(41256279_41256884)del	BRCA1	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3233732	NC_000013.10:g.(32893463_32899212)_(32900420_32900635)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076066	NM_000059.4(BRCA2):c.5921dup (p.Cys1975fs)	BRCA2 (C1975fs)	Duplication (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076065	NM_000059.4(BRCA2):c.4555_4556del (p.Pro1519fs)	BRCA2 (P1519fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076064	NM_000059.4(BRCA2):c.2488_2489insG (p.Asn830fs)	BRCA2 (N830fs)	Insertion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076052	NM_000059.4(BRCA2):c.3969_3970insCT (p.Tyr1324fs)	BRCA2 (Y1324fs)	Insertion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076024	NM_000059.4(BRCA2):c.2556_2557insATCAGATT (p.Gln853fs)	BRCA2 (Q853fs)	Insertion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3076020	NM_000059.4(BRCA2):c.5233dup (p.Met1745fs)	BRCA2 (M1745fs)	Duplication (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3075859	NM_000059.4(BRCA2):c.8833C>T (p.Gln2945Ter)	BRCA2 (Q1301* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075813	NM_000059.4(BRCA2):c.5569del (p.Glu1857fs)	BRCA2 (E1857fs)	Deletion (frameshift variant)	Hereditary breast ovarian cancer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3075812	NM_000059.4(BRCA2):c.4780_4787del (p.Met1594fs)	BRCA2 (M1594fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075802	NM_007294.4(BRCA1):c.1116del (p.Pro371_Trp372insTer)	BRCA1	Deletion (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3075796	NM_000059.4(BRCA2):c.2408dup (p.Tyr803Ter)	BRCA2 (Y803*)	Duplication (nonsense +2 more)	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3075795	NM_007294.4(BRCA1):c.701_702del (p.Thr234fs)	BRCA1 (T106fs +20 more)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075794	NM_007294.4(BRCA1):c.2626G>T (p.Gly876Ter)	BRCA1 (G580* +20 more)	Single nucleotide variant (intron variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075793	NM_007294.4(BRCA1):c.4399del (p.Gln1467fs)	BRCA1 (Q1170fs +75 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075792	NM_000059.4(BRCA2):c.9399del (p.Gly3134fs)	BRCA2 (G1490fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075791	NM_000059.4(BRCA2):c.9278T>A (p.Leu3093Ter)	BRCA2 (L1449* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075790	NM_000059.4(BRCA2):c.7582_7583insA (p.Gly2528fs)	BRCA2 (G2496fs +3 more)	Insertion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075789	NM_000059.4(BRCA2):c.7577_7580del (p.Ala2526fs)	BRCA2 (A2494fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075788	NM_000059.4(BRCA2):c.6887del (p.Ile2296fs)	BRCA2 (I157fs +2 more)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic
Select item 3075787	NM_000059.4(BRCA2):c.5960del (p.Gln1987fs)	BRCA2 (Q1987fs)	Deletion (frameshift variant +2 more)	Hereditary breast ovarian cancer syndrome	GLikely pathogenic

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