C3150546[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 421342	NM_000059.4(BRCA2):c.15del (p.Glu7fs)	BRCA2 (E7fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38065	NM_000059.4(BRCA2):c.68-7dup	BRCA2	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +13 more	GBenign/Likely benign
Select item 52808	NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter)	BRCA2 (W31*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51041	NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter)	BRCA2 (E34*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51129	NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter)	BRCA2 (E49*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51269	NM_000059.4(BRCA2):c.231T>G (p.Thr77=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37916	NM_000059.4(BRCA2):c.464G>C (p.Arg155Thr)	BRCA2 (R155T)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +11 more	GConflicting classifications of pathogenicity
Select item 233024	NM_000059.4(BRCA2):c.505A>C (p.Lys169Gln)	BRCA2 (K169Q)	Single nucleotide variant (missense variant)	Wilms tumor 1 +9 more	GUncertain significance
Select item 37993	NM_000059.4(BRCA2):c.574_575del (p.Met192fs)	BRCA2 (M192fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51943	NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)	BRCA2 (W194*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 576367	NM_000059.4(BRCA2):c.610dup (p.Leu204fs)	BRCA2 (L204fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome +10 more	GPathogenic/Likely pathogenic
Select item 9342	NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 41567	NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	BRCA2 (N289H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 141793	NM_000059.4(BRCA2):c.1001A>G (p.His334Arg)	BRCA2 (H334R)	Single nucleotide variant (missense variant)	Wilms tumor 1 +10 more	GConflicting classifications of pathogenicity
Select item 9329	NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	BRCA2 (N372H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 96761	NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn)	BRCA2 (K382N)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +10 more	GConflicting classifications of pathogenicity
Select item 41541	NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)	BRCA2 (S384F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 184036	NM_000059.4(BRCA2):c.1179T>C (p.Cys393=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 187437	NM_000059.4(BRCA2):c.1282C>A (p.Leu428Ile)	BRCA2 (L428I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 91750	NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys)	BRCA2 (R435K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 51116	NM_000059.4(BRCA2):c.1395A>C (p.Val465=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 51118	NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter)	BRCA2 (K467*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96764	NM_000059.4(BRCA2):c.1433C>A (p.Thr478Lys)	BRCA2 (T478K)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 531316	NM_000059.4(BRCA2):c.1517T>C (p.Phe506Ser)	BRCA2 (F506S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 125947	NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg)	BRCA2 (K513R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37754	NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51192	NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)	BRCA2 (D596H)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37756	NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer)	BRCA2	Deletion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51221	NM_000059.4(BRCA2):c.1889del (p.Thr630fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 462246	NM_000059.4(BRCA2):c.1905T>G (p.Asp635Glu)	BRCA2 (D635E)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +9 more	GConflicting classifications of pathogenicity
Select item 141283	NM_000059.4(BRCA2):c.1909+1G>A	BRCA2	Single nucleotide variant (splice donor variant +1 more)	Hereditary breast ovarian cancer syndrome +11 more	GPathogenic/Likely pathogenic
Select item 51230	NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37770	NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)	BRCA2 (P655R)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51246	NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr)	BRCA2 (S708T)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GConflicting classifications of pathogenicity
Select item 51250	NM_000059.4(BRCA2):c.2150del (p.Cys717fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96780	NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr)	BRCA2 (I729T)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +13 more	GConflicting classifications of pathogenicity
Select item 51257	NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)	BRCA2 (Q742*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 125979	NM_000059.4(BRCA2):c.2229T>C (p.His743=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 187129	NM_000059.4(BRCA2):c.2231C>T (p.Ser744Leu)	BRCA2 (S744L)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 51259	NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)	BRCA2 (S749G)	Single nucleotide variant (missense variant)	not specified +12 more	GConflicting classifications of pathogenicity
Select item 663831	NM_000059.4(BRCA2):c.2249A>T (p.Asp750Val)	BRCA2 (D750V)	Single nucleotide variant (missense variant)	Medulloblastoma +9 more	GConflicting classifications of pathogenicity
Select item 234566	NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)	BRCA2 (N802S)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 51292	NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg)	BRCA2 (C822R)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 91782	NM_000059.4(BRCA2):c.2657A>G (p.Asn886Ser)	BRCA2 (N886S)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 51349	NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	BRCA2 (D935N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +12 more	GBenign/Likely benign
Select item 37806	NM_000059.4(BRCA2):c.2908G>A (p.Asp970Asn)	BRCA2 (D970N)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +11 more	GConflicting classifications of pathogenicity
Select item 41545	NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp)	BRCA2 (N991D)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 570422	NM_000059.4(BRCA2):c.3020G>T (p.Gly1007Val)	BRCA2 (G1007V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 37819	NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter)	BRCA2 (Q1037*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37830	NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)	BRCA2 (Q1089fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51435	NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51481	NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37856	NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51525	NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)	BRCA2 (S1262*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 231069	NM_000059.4(BRCA2):c.3808G>A (p.Val1270Ile)	BRCA2 (V1270I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 51534	NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)	BRCA2 (N1279D)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37867	NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter)	BRCA2 (E1308*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 126037	NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)	BRCA2 (T1378*)	Insertion (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37890	NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter)	BRCA2 (E1415*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37892	NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs)	BRCA2 (Q1429fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 632715	NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr)	BRCA2 (S1437T)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 37897	NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu)	BRCA2 (K1453E)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +11 more	GConflicting classifications of pathogenicity
Select item 531308	NM_000059.4(BRCA2):c.4396T>A (p.Leu1466Ile)	BRCA2 (L1466I)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +9 more	GConflicting classifications of pathogenicity
Select item 126045	NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly)	BRCA2 (E1493G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 51661	NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)	BRCA2 (R1512H)	Single nucleotide variant (missense variant)	Wilms tumor 1 +11 more	GConflicting classifications of pathogenicity
Select item 91822	NM_000059.4(BRCA2):c.4552del (p.Glu1518fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37909	NM_000059.4(BRCA2):c.4574A>G (p.His1525Arg)	BRCA2 (H1525R)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity
Select item 51690	NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 1456139	NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)	BRCA2 (L1598fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +8 more	GPathogenic
Select item 231512	NM_000059.4(BRCA2):c.4825A>G (p.Thr1609Ala)	BRCA2 (T1609A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 187127	NM_000059.4(BRCA2):c.4914dup (p.Val1639fs)	BRCA2 (V1639fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37936	NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	BRCA2 (Y1655*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 186066	NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 215608	NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37943	NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	BRCA2 (W1692fs)	Duplication	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37942	NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn)	BRCA2 (K1690N)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 37950	NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe)	BRCA2 (S1733F)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51813	NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 186936	NM_000059.4(BRCA2):c.5220A>C (p.Leu1740Phe)	BRCA2 (L1740F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 37953	NM_000059.4(BRCA2):c.5229_5231del (p.Ser1744del)	BRCA2 (S1744del)	Deletion (inframe_deletion)	Hereditary breast ovarian cancer syndrome +10 more	GUncertain significance
Select item 141853	NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile)	BRCA2 (S1744I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +11 more	GConflicting classifications of pathogenicity
Select item 37954	NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter)	BRCA2 (N1747*)	Duplication (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37956	NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs)	BRCA2 (S1764fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 132781	NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 1171246	NM_000059.4(BRCA2):c.5434G>A (p.Glu1812Lys)	BRCA2 (E1812K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 51892	NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	BRCA2 (K1872fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37984	NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	BRCA2 (S1882*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51902	NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=)	BRCA2	Single nucleotide variant (synonymous variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GLikely benign
Select item 37987	NM_000059.4(BRCA2):c.5672C>T (p.Ala1891Val)	BRCA2 (A1891V)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +10 more	GConflicting classifications of pathogenicity
Select item 37989	NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter)	BRCA2 (Y1894*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9320	NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs)	BRCA2 (L1908fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 96828	NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg)	BRCA2 (H1916R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group D1 +11 more	GConflicting classifications of pathogenicity
Select item 37997	NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)	BRCA2 (I1929V)	Single nucleotide variant (missense variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GBenign
Select item 51939	NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter)	BRCA2 (Q1931*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 37999	NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)	BRCA2	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51952	NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)	BRCA2 (E1953*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 51954	NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter)	BRCA2 (S1955*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic FDA Recognized database
Select item 91430	NM_000059.4(BRCA2):c.5962G>A (p.Val1988Ile)	BRCA2 (V1988I)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome +9 more	GConflicting classifications of pathogenicity

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