C0919267[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 128866	NM_001904.4(CTNNB1):c.14-4A>G	CTNNB1, LOC126806658	Single nucleotide variant (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 265443	NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1, LOC126806658 (R95* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +9 more	GPathogenic
Select item 731212	NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 39655	NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)	CTNNB1, LOC126806659 (R515* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 1403921	NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)	CTNNB1, LOC126806659 (H517R +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 1599823	NM_001904.4(CTNNB1):c.1683+17A>G	CTNNB1, LOC126806659	Single nucleotide variant (intron variant)	Pilomatrixoma +7 more	GBenign/Likely benign
Select item 210805	NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)	CTNNB1	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	Familial cancer of breast +14 more	GUncertain significance
Select item 376050	NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	PIK3CA (N345K)	Single nucleotide variant (missense variant)	Congenital macrodactylia +14 more	GPathogenic
Select item 403909	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	PIK3CA (P377R)	Single nucleotide variant (missense variant)	Familial cancer of breast +14 more	GUncertain significance
Select item 526637	NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg)	PIK3CA (K884R)	Single nucleotide variant (missense variant)	not specified +16 more	GUncertain significance
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	not provided +18 more	GPathogenic
Select item 907164	NM_004562.3(PRKN):c.*140A>G	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 907165	NM_004562.3(PRKN):c.*121A>C	PRKN	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive juvenile Parkinson disease 2 +2 more	GUncertain significance
Select item 356016	NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)	PRKN (G430D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GPathogenic/Likely pathogenic
Select item 41222	NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)	PRKN (D394N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GBenign/Likely benign
Select item 41221	NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)	PRKN (V380L +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive juvenile Parkinson disease 2 +4 more	GBenign
Select item 468583	NM_004562.3(PRKN):c.1001G>A (p.Arg334His)	PRKN (R334H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 577057	NM_004562.3(PRKN):c.930G>C (p.Glu310Asp)	PRKN (E310D +2 more)	Single nucleotide variant (missense variant)	Ovarian neoplasm +3 more	GUncertain significance
Select item 696161	NM_004562.3(PRKN):c.837C>T (p.His279=)	PRKN	Single nucleotide variant (synonymous variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GLikely benign
Select item 7050	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)	PRKN (R275W +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 649511	NM_004562.3(PRKN):c.799T>C (p.Tyr267His)	PRKN (Y239H +2 more)	Single nucleotide variant (missense variant)	Lung cancer +3 more	GUncertain significance
Select item 7054	NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	PRKN (T240M +2 more)	Single nucleotide variant (missense variant)	Young-onset Parkinson disease +3 more	GConflicting classifications of pathogenicity
Select item 696485	NM_004562.3(PRKN):c.714C>T (p.Cys238=)	PRKN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1402237	NM_004562.3(PRKN):c.551A>T (p.Asp184Val)	PRKN (D184V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 41223	NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)	LOC126859871, PRKN (S167N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 468587	NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)	PRKN, LOC126859871 (P153R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 846957	NM_004562.3(PRKN):c.337_376del (p.Pro113fs)	PRKN (P113fs)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 946993	NM_004562.3(PRKN):c.353G>C (p.Gly118Ala)	PRKN (G118A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 697532	NM_004562.3(PRKN):c.276G>A (p.Ala92=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign
Select item 903886	NM_004562.3(PRKN):c.247A>G (p.Thr83Ala)	PRKN (T83A)	Single nucleotide variant (missense variant +1 more)	Lung cancer +3 more	GUncertain significance
Select item 1130407	NM_004562.3(PRKN):c.219G>A (p.Pro73=)	PRKN	Single nucleotide variant (synonymous variant +1 more)	Ovarian neoplasm +3 more	GLikely benign
Select item 1259680	NM_004562.3(PRKN):c.172-38dup	PRKN	Duplication (intron variant)	Ovarian neoplasm +3 more	GBenign
Select item 536457	NM_004562.3(PRKN):c.155del (p.Asn52fs)	PRKN (N52fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2 +3 more	GPathogenic
Select item 468586	NM_004562.3(PRKN):c.136G>A (p.Ala46Thr)	PRKN (A46T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 578186	NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)	PRKN (R33Q)	Single nucleotide variant (missense variant)	Ovarian neoplasm +3 more	GPathogenic/Likely pathogenic
Select item 1335654	NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)	PRKN (Q25*)	Single nucleotide variant (nonsense)	Lung cancer +3 more	GPathogenic/Likely pathogenic
Select item 182414	NM_058195.4(CDKN2A):c.194-3653G>T	CDKN2A, LOC130001603	Single nucleotide variant (genic upstream transcript variant +1 more)	Melanoma and neural system tumor syndrome +7 more	GPathogenic
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 7833	NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)	PTEN (R335* +2 more)	Single nucleotide variant (nonsense)	Malignant tumor of prostate +12 more	GPathogenic OOncogenic
Select item 127987	NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)	MRE11 (S273C)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia-like disorder +4 more	GUncertain significance
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 37859	NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	BRCA2	Deletion (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 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 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 9325	NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	BRCA2 (S1982fs)	Deletion (frameshift variant)	BRCA2-related cancer predisposition	GPathogenic FDA Recognized database
Select item 38047	NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)	BRCA2 (Q2157fs)	Microsatellite (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38076	NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)	BRCA2 (R2318*)	Single nucleotide variant (nonsense)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 38225	NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)	BRCA2 (T3085fs)	Duplication (frameshift variant)	Breast-ovarian cancer, familial, susceptibility to, 2	GPathogenic
Select item 240102	NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)	AKT1	Single nucleotide variant (synonymous variant)	Cowden syndrome 6 +6 more	GBenign/Likely benign
Select item 221174	NM_004360.5(CDH1):c.-71C>G	CDH1, LOC130059290	Single nucleotide variant (5 prime UTR variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 182378	NM_004360.5(CDH1):c.48+15_48+16del	CDH1	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 136070	NM_004360.5(CDH1):c.84C>T (p.Cys28=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 127933	NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)	CDH1 (P30T)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 406620	NM_004360.5(CDH1):c.202T>G (p.Tyr68Asp)	CDH1 (Y68D)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +6 more	GUncertain significance
Select item 239891	NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)	CDH1 (R74*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 183867	NM_004360.5(CDH1):c.303C>T (p.Tyr101=)	CDH1	Single nucleotide variant (synonymous variant +1 more)	Malignant tumor of prostate +9 more	GConflicting classifications of pathogenicity
Select item 184629	NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)	CDH1 (P126L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 486824	NM_004360.5(CDH1):c.382del (p.His128fs)	CDH1 (H128fs)	Deletion (frameshift variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 570732	NM_004360.5(CDH1):c.631A>G (p.Thr211Ala)	CDH1 (T211A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 127932	NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)	CDH1 (R224C)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 132709	NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)	CDH1 (G239R)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 136055	NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)	CDH1 (R335*)	Single nucleotide variant (nonsense +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 492676	NM_004360.5(CDH1):c.1145del (p.Gly382fs)	CDH1 (G382fs)	Deletion (5 prime UTR variant +2 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 142888	NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter)	CDH1 (Q383*)	Single nucleotide variant (5 prime UTR variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 184651	NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)	CDH1 (V391I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 133855	NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg)	CDH1 (W409R)	Single nucleotide variant (5 prime UTR variant +2 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 142029	NM_004360.5(CDH1):c.1234G>A (p.Val412Ile)	CDH1 (V412I)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial cancer of breast +6 more	GUncertain significance
Select item 185286	NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser)	CDH1 (N417S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 265543	NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)	CDH1 (L391fs +1 more)	Deletion (frameshift variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 133845	NM_004360.5(CDH1):c.1370C>T (p.Thr457Met)	CDH1 (T457M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 127913	NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)	CDH1 (T470I +1 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 1215732	NM_004360.5(CDH1):c.1492G>A (p.Asp498Asn)	CDH1 (D437N +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cancer of breast +8 more	GUncertain significance
Select item 568581	NM_004360.5(CDH1):c.1741C>T (p.Leu581Phe)	CDH1 (L581F +2 more)	Single nucleotide variant (missense variant +1 more)	Blepharocheilodontic syndrome 1 +6 more	GUncertain significance
Select item 184624	NM_004360.5(CDH1):c.1774G>T (p.Ala592Ser)	CDH1 (A592S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 41783	NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)	CDH1 (A592T +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 481702	NM_004360.5(CDH1):c.1843A>G (p.Ile615Val)	CDH1 (I615V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary diffuse gastric adenocarcinoma +8 more	GUncertain significance
Select item 12232	NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)	CDH1 (A617T +2 more)	Single nucleotide variant (missense variant +1 more)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GBenign FDA Recognized database
Select item 140781	NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)	CDH1	Microsatellite (nonsense)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GPathogenic FDA Recognized database
Select item 386093	NM_004360.5(CDH1):c.2358C>T (p.Asp786=)	CDH1	Single nucleotide variant (synonymous variant)	Hereditary diffuse gastric adenocarcinoma +8 more	GBenign/Likely benign
Select item 185969	NM_004360.5(CDH1):c.2371C>T (p.Leu791Phe)	CDH1 (L791F +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 141990	NM_004360.5(CDH1):c.2398C>T (p.Arg800Cys)	CDH1 (R800C +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +7 more	GUncertain significance
Select item 239894	NM_004360.5(CDH1):c.2435A>G (p.Asp812Gly)	CDH1 (D812G +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +5 more	GUncertain significance
Select item 140841	NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)	CDH1 (P825L +3 more)	Single nucleotide variant (missense variant)	Familial cancer of breast +8 more	GConflicting classifications of pathogenicity
Select item 12233	NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)	CDH1 (S838G +3 more)	Single nucleotide variant (missense variant)	CDH1-related diffuse gastric and lobular breast cancer syndrome	GLikely benign FDA Recognized database
Select item 216595	NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys)	CDH1 (W865C +3 more)	Single nucleotide variant (missense variant)	Hereditary diffuse gastric adenocarcinoma +7 more	GUncertain significance
Select item 182970	NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)	TP53 (R210* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +14 more	GPathogenic
Select item 376655	NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	TP53 (R141L +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic OOncogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 634682	NM_000546.6(TP53):c.817C>G (p.Arg273Gly)	TP53 (R141G +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +13 more	GPathogenic/Likely pathogenic
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12365	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53 (G245S +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome	GPathogenic FDA Recognized database
Select item 12359	NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	TP53 (S241F +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +15 more	GPathogenic/Likely pathogenic OOncogenic
Select item 127819	NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	TP53 (Y181C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 12374	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53 (R175H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 185048	NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)	RAD51D, RAD51L3-RFFL (R300* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 127893	NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)	RAD51D, RAD51L3-RFFL (R232* +2 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +5 more	GPathogenic/Likely pathogenic
Select item 30285	NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)	RAD51D, RAD51L3-RFFL (R186* +2 more)	Single nucleotide variant (nonsense +1 more)	Breast-ovarian cancer, familial, susceptibility to, 4 +3 more	GPathogenic
Select item 55601	NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	BRCA1 (R1835* +80 more)	Single nucleotide variant (nonsense +2 more)	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic

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