ClinVar for Gene (Select 675) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240964	NM_000059.4(BRCA2):c.8476T>C (p.Tyr2826His)	BRCA2 (Y1182H +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240963	NM_000059.4(BRCA2):c.7232A>G (p.Lys2411Arg)	BRCA2 (K2379R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240960	NM_000059.4(BRCA2):c.7903G>C (p.Glu2635Gln)	BRCA2 (E2603Q +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240959	NM_000059.4(BRCA2):c.9361G>T (p.Ala3121Ser)	BRCA2 (A1477S +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240958	NM_000059.4(BRCA2):c.67+25T>C	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3240955	NM_000059.4(BRCA2):c.8690del (p.Ala2897fs)	BRCA2 (A1253fs +3 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GLikely pathogenic
Select item 3240953	NM_000059.4(BRCA2):c.9213G>C (p.Glu3071Asp)	BRCA2 (E1427D +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240952	NM_000059.4(BRCA2):c.8497A>G (p.Lys2833Glu)	BRCA2 (K1189E +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240950	NM_000059.4(BRCA2):c.9329A>C (p.Asn3110Thr)	BRCA2 (N1466T +4 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240949	NM_000059.4(BRCA2):c.6938-11T>G	BRCA2	Single nucleotide variant (intron variant)	Familial cancer of breast	GUncertain significance
Select item 3240948	NM_000059.4(BRCA2):c.8814T>A (p.Asp2938Glu)	BRCA2 (D1294E +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240947	NM_000059.4(BRCA2):c.9946del (p.Glu3316fs)	BRCA2 (E1177fs +4 more)	Deletion (frameshift variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3240946	NM_000059.4(BRCA2):c.7897G>A (p.Ala2633Thr)	BRCA2 (A2601T +3 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast	GUncertain significance
Select item 3236921	NM_000059.4(BRCA2):c.2129C>A (p.Ser710Ter)	BRCA2 (S710*)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3236915	NM_000059.4(BRCA2):c.7165A>T (p.Arg2389Ter)	BRCA2 (R2357* +3 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3236914	NM_000059.4:c.(6841+1_6842-1)_(7805+1_7806-1)del	BRCA2	Deletion	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3236913	NM_000059.4(BRCA2):c.5600_5601del (p.Thr1867fs)	BRCA2 (T1867fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	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 3236849	NM_000059.4(BRCA2):c.8387del (p.Pro2796fs)	BRCA2 (P1152fs +3 more)	Deletion (frameshift variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 3236848	NM_000059.4(BRCA2):c.4234_4236delinsC (p.Thr1412fs)	BRCA2 (T1412fs)	Indel (frameshift variant +2 more)	Pancreatic cancer, susceptibility to, 2	GLikely pathogenic
Select item 3236847	NM_000059.4(BRCA2):c.1397dup (p.Asn466fs)	BRCA2 (N466fs)	Duplication (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 3236846	NM_000059.4(BRCA2):c.1363_1369del (p.Glu456fs)	BRCA2 (E456fs)	Deletion (frameshift variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely pathogenic
Select item 3236207	NM_000059.4(BRCA2):c.9016_9021del (p.Tyr3006_Arg3007del)	BRCA2	Deletion (inframe_deletion +1 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GUncertain significance
Select item 3235765	NM_000059.4(BRCA2):c.5898dup (p.Lys1967Ter)	BRCA2 (K1967*)	Duplication (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 3233732	NC_000013.10:g.(32893463_32899212)_(32900420_32900635)del	BRCA2	Deletion	Hereditary breast ovarian cancer syndrome	GPathogenic
Select item 3230222	NM_000059.4(BRCA2):c.9916A>G (p.Thr3306Ala)	BRCA2 (T1167A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230221	NM_000059.4(BRCA2):c.9899C>T (p.Pro3300Leu)	BRCA2 (P1161L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230220	NM_000059.4(BRCA2):c.9879T>A (p.Ala3293=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230219	NM_000059.4(BRCA2):c.9766_9769del (p.Glu3256fs)	BRCA2 (E1117fs +4 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230218	NM_000059.4(BRCA2):c.9713A>C (p.Lys3238Thr)	BRCA2 (K1099T +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230217	NM_000059.4(BRCA2):c.9712A>T (p.Lys3238Ter)	BRCA2 (K1099* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230216	NM_000059.4(BRCA2):c.9631A>G (p.Thr3211Ala)	BRCA2 (T1072A +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230215	NM_000059.4(BRCA2):c.9575_9576dup (p.Thr3193fs)	BRCA2 (T1054fs +4 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230115	NM_000059.4(BRCA2):c.9404T>C (p.Leu3135Pro)	BRCA2 (L1491P +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230070	NM_000059.4(BRCA2):c.9376C>G (p.Gln3126Glu)	BRCA2 (Q1482E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230033	NM_000059.4(BRCA2):c.9345G>A (p.Lys3115=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230019	NM_000059.4(BRCA2):c.9338T>G (p.Ile3113Ser)	BRCA2 (I1469S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229931	NM_000059.4(BRCA2):c.9279G>T (p.Leu3093Phe)	BRCA2 (L1449F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229883	NM_000059.4(BRCA2):c.9254C>G (p.Thr3085Arg)	BRCA2 (T1441R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229490	NM_000059.4(BRCA2):c.8953+2dup	BRCA2	Duplication (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229471	NM_000059.4(BRCA2):c.8855del (p.Met2952fs)	BRCA2 (M1308fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229449	NM_000059.4(BRCA2):c.8788A>T (p.Asn2930Tyr)	BRCA2 (N1286Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229445	NM_000059.4(BRCA2):c.877G>T (p.Asp293Tyr)	BRCA2 (D293Y)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229435	NM_000059.4(BRCA2):c.8763C>T (p.Phe2921=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229407	NM_000059.4(BRCA2):c.8707G>C (p.Glu2903Gln)	BRCA2 (E1259Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229363	NM_000059.4(BRCA2):c.8633-965C>T	BRCA2	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229282	NM_000059.4(BRCA2):c.8434_8435insTT (p.Gly2812fs)	BRCA2 (G1168fs +3 more)	Insertion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229281	NM_000059.4(BRCA2):c.8431G>A (p.Asp2811Asn)	BRCA2 (D1167N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229257	NM_000059.4(BRCA2):c.8345G>A (p.Ser2782Asn)	BRCA2 (S1138N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229226	NM_000059.4(BRCA2):c.8270A>T (p.Glu2757Val)	BRCA2 (E1113V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229162	NM_000059.4(BRCA2):c.8175del (p.Trp2725fs)	BRCA2 (W2725fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229124	NM_000059.4(BRCA2):c.8117del (p.Asn2706fs)	BRCA2 (N1062fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3229123	NM_000059.4(BRCA2):c.8116A>T (p.Asn2706Tyr)	BRCA2 (N1062Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229115	NM_000059.4(BRCA2):c.8088G>A (p.Leu2696=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3229091	NM_000059.4(BRCA2):c.8041A>C (p.Thr2681Pro)	BRCA2 (T1037P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3229014	NM_000059.4(BRCA2):c.7957C>G (p.Leu2653Val)	BRCA2 (L1009V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228960	NM_000059.4(BRCA2):c.7891_7900dup (p.Met2634fs)	BRCA2 (M2602fs +3 more)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3228959	NM_000059.4(BRCA2):c.7890A>C (p.Lys2630Asn)	BRCA2 (K2598N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228950	NM_000059.4(BRCA2):c.7819_7821delinsCCC (p.Thr2607Pro)	BRCA2 (T2575P +3 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3228944	NM_000059.4(BRCA2):c.7810C>G (p.Leu2604Val)	BRCA2 (L2572V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228943	NM_000059.4(BRCA2):c.7808C>T (p.Ala2603Val)	BRCA2 (A2571V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228853	NM_000059.4(BRCA2):c.7673A>C (p.Glu2558Ala)	BRCA2 (E2526A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228790	NM_000059.4(BRCA2):c.762A>T (p.Glu254Asp)	BRCA2 (E131D +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3228692	NM_000059.4(BRCA2):c.7565_7567delinsTTT (p.Ser2522Phe)	BRCA2 (S2490F +3 more)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228617	NM_000059.4(BRCA2):c.7512T>A (p.Phe2504Leu)	BRCA2 (F2472L +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228600	NM_000059.4(BRCA2):c.7507del (p.Val2503fs)	BRCA2 (V2471fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3228569	NM_000059.4(BRCA2):c.7488G>A (p.Lys2496=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3228404	NM_000059.4(BRCA2):c.7354A>T (p.Asn2452Tyr)	BRCA2 (N2420Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3228399	NM_000059.4(BRCA2):c.7352A>C (p.Asp2451Ala)	BRCA2 (D2419A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228339	NM_000059.4(BRCA2):c.7295_7296del (p.Arg2432fs)	BRCA2 (R2400fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3228319	NM_000059.4(BRCA2):c.7273A>T (p.Asn2425Tyr)	BRCA2 (N2393Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228238	NM_000059.4(BRCA2):c.718C>G (p.Leu240Val)	BRCA2 (L117V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228208	NM_000059.4(BRCA2):c.7130T>C (p.Val2377Ala)	BRCA2 (V2345A +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228202	NM_000059.4(BRCA2):c.7112C>A (p.Ser2371Tyr)	BRCA2 (S232Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228175	NM_000059.4(BRCA2):c.7064A>T (p.Glu2355Val)	BRCA2 (E216V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228131	NM_000059.4(BRCA2):c.6970C>T (p.His2324Tyr)	BRCA2 (H185Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228115	NM_000059.4(BRCA2):c.6936T>G (p.Asp2312Glu)	BRCA2 (D173E +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228101	NM_000059.4(BRCA2):c.6841G>C (p.Gly2281Arg)	BRCA2 (G2281R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228099	NM_000059.4(BRCA2):c.6841+2T>C	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228093	NM_000059.4(BRCA2):c.6835T>G (p.Leu2279Val)	BRCA2 (L2279V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228082	NM_000059.4(BRCA2):c.6814A>T (p.Arg2272Ter)	BRCA2 (R2272*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3228080	NM_000059.4(BRCA2):c.6810_6811insT (p.Lys2271Ter)	BRCA2 (K2271*)	Insertion (nonsense +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3228076	NM_000059.4(BRCA2):c.6780G>C (p.Glu2260Asp)	BRCA2 (E2260D)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228044	NM_000059.4(BRCA2):c.6642T>C (p.Thr2214=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3228032	NM_000059.4(BRCA2):c.657T>C (p.Thr219=)	BRCA2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3228031	NM_000059.4(BRCA2):c.6574dup (p.Met2192fs)	BRCA2 (M2192fs)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3228018	NM_000059.4(BRCA2):c.6520G>C (p.Val2174Leu)	BRCA2 (V2174L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3228002	NM_000059.4(BRCA2):c.6461_6462del (p.Tyr2154fs)	BRCA2 (Y2154fs)	Microsatellite (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227964	NM_000059.4(BRCA2):c.6363A>C (p.Glu2121Asp)	BRCA2 (E2121D)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227888	NM_000059.4(BRCA2):c.6277del (p.His2093fs)	BRCA2 (H2093fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227840	NM_000059.4(BRCA2):c.6185G>T (p.Ser2062Ile)	BRCA2 (S2062I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227822	NM_000059.4(BRCA2):c.610C>G (p.Leu204Val)	BRCA2 (L204V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227796	NM_000059.4(BRCA2):c.6052A>C (p.Ser2018Arg)	BRCA2 (S2018R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227768	NM_000059.4(BRCA2):c.601C>A (p.Pro201Thr)	BRCA2 (P201T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227752	NM_000059.4(BRCA2):c.5991A>G (p.Arg1997=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227726	NM_000059.4(BRCA2):c.5955_5959del (p.Val1986fs)	BRCA2 (V1986fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227697	NM_000059.4(BRCA2):c.5920A>T (p.Thr1974Ser)	BRCA2 (T1974S)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227602	NM_000059.4(BRCA2):c.5814A>C (p.Gly1938=)	BRCA2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227573	NM_000059.4(BRCA2):c.571G>A (p.Asp191Asn)	BRCA2 (D191N +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3227526	NM_000059.4(BRCA2):c.5641A>G (p.Lys1881Glu)	BRCA2 (K1881E)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance

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