C0476089[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 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 5 +7 more	GPathogenic/Likely pathogenic
Select item 89562	NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)	MSH6 (A25S)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 410435	NM_000179.3(MSH6):c.104C>T (p.Ala35Val)	MSH6 (A35V)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 219577	NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)	MSH6 (G46R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 216296	NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)	MSH6 (G46R)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 439201	NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)	MSH6 (R62C)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 1 +5 more	GUncertain significance
Select item 220796	NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)	MSH6 (S63P)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 480915	NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)	MSH6 (G74*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome 5 +4 more	GPathogenic
Select item 427607	NM_000179.3(MSH6):c.362G>A (p.Arg121His)	MSH6 (R121H)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 89473	NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)	MSH6 (R128L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 36597	NM_000179.3(MSH6):c.540T>C (p.Asp180=)	MSH6	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 525808	NM_000179.3(MSH6):c.589G>C (p.Asp197His)	MSH6 (D197H)	Single nucleotide variant (missense variant +2 more)	Endometrial carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 142490	NM_000179.3(MSH6):c.622A>G (p.Met208Val)	MSH6 (M208V)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome 5 +6 more	GUncertain significance
Select item 89547	NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)	MSH6 (Y214* +1 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 36599	NM_000179.3(MSH6):c.642C>T (p.Tyr214=)	MSH6	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GBenign
Select item 8932	NM_000179.3(MSH6):c.651dup (p.Lys218Ter)	MSH6 (K88* +1 more)	Duplication (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 89551	NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)	MSH6 (E220D +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 89568	NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)	MSH6 (T269S +1 more)	Single nucleotide variant (missense variant +1 more)	Endometrial carcinoma +7 more	GConflicting classifications of pathogenicity
Select item 182612	NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)	MSH6 (E277D +1 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 134851	NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)	MSH6 (G355S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 182620	NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)	MSH6 (Y397C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +8 more	GConflicting classifications of pathogenicity
Select item 410450	NM_000179.3(MSH6):c.1270G>A (p.Val424Ile)	MSH6 (V424I +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +5 more	GUncertain significance
Select item 237133	NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)	MSH6 (F321fs +2 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 89198	NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)	MSH6 (S201C +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 41588	NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)	MSH6 (V509A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 410453	NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)	MSH6 (I513T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 418743	NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)	MSH6 (K545E +2 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 1 +6 more	GConflicting classifications of pathogenicity
Select item 89219	NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)	MSH6 (S580L +2 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 141265	NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)	MSH6 (T605S +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 232785	NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile)	MSH6 (L700I +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +5 more	GUncertain significance
Select item 89253	NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)	MSH6 (S702* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89256	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	MSH6 (V415fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 479867	NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)	MSH6 (K728R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 419197	NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)	MSH6 (T767S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 127570	NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)	MSH6 (E807K +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 455205	NM_000179.3(MSH6):c.2515G>C (p.Asp839His)	MSH6 (D839H +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 89289	NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	MSH6 (K854M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 8931	NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)	MSH6 (V878A +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 231236	NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)	MSH6 (V890F +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +6 more	GConflicting classifications of pathogenicity
Select item 645219	NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg)	MSH6 (T593R +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 89312	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	MSH6 (R911* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 186981	NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)	MSH6 (T987A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 455228	NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)	MSH6 (R1005L +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +4 more	GUncertain significance
Select item 142232	NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)	MSH6 (R1005Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 237175	NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)	MSH6 (R1024W +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 89338	NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	MSH6 (R1035* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89342	NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)	MSH6 (A1055T +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 138260	NM_000179.3(MSH6):c.3172+20T>C	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 5 +6 more	GBenign/Likely benign
Select item 410438	NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del)	MSH6	Deletion (inframe_deletion)	Hereditary nonpolyposis colorectal neoplasms +3 more	GUncertain significance
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 41593	NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)	MSH6 (P1073S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 187394	NM_000179.3(MSH6):c.3228C>T (p.Arg1076=)	MSH6	Single nucleotide variant (synonymous variant)	Lynch syndrome +4 more	GLikely benign
Select item 141299	NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)	MSH6 (P1082S +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +8 more	GConflicting classifications of pathogenicity
Select item 491933	NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly)	MSH6 (D1084G +2 more)	Single nucleotide variant (missense variant)	MSH6-related disorder +5 more	GUncertain significance
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89363	NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	MSH6 (F958fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89360	NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)	MSH6 (P1087S +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +7 more	GConflicting classifications of pathogenicity
Select item 89362	NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)	MSH6 (P1087R +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +7 more	GConflicting classifications of pathogenicity
Select item 89369	NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)	MSH6 (T1100M +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 221123	NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)	MSH6 (F1104L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 483799	NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)	MSH6 (L1114Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 42471	NM_000179.3(MSH6):c.3438+14A>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89389	NM_000179.3(MSH6):c.3439-16C>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 89390	NM_000179.3(MSH6):c.3439-1G>T	MSH6	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 491950	NM_000179.3(MSH6):c.3557-17A>T	MSH6	Single nucleotide variant (intron variant)	Lynch syndrome 5 +3 more	GLikely benign
Select item 89418	NM_000179.3(MSH6):c.3557-4dup	MSH6	Duplication (intron variant)	Lynch syndrome	GBenign
Select item 141364	NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)	MSH6 (G1186D +2 more)	Single nucleotide variant (missense variant)	Endometrial carcinoma +7 more	GUncertain significance
Select item 410511	NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)	MSH6 (E1196Q +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 89424	NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)	MSH6 (M1202T +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 410535	NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)	MSH6 (H1203N +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 418851	NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala)	MSH6 (T1247A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 127593	NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)	MSH6 (R1263H +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +6 more	GConflicting classifications of pathogenicity
Select item 234228	NM_000179.3(MSH6):c.3801+1G>T	MSH6	Single nucleotide variant (splice donor variant)	Lynch syndrome 5 +5 more	GLikely pathogenic
Select item 378171	NM_000179.3(MSH6):c.3801+14G>T	MSH6	Single nucleotide variant (intron variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GBenign/Likely benign
Select item 824273	NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)	MSH6 (Q1280fs +2 more)	Duplication (frameshift variant)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 182649	NM_000179.3(MSH6):c.3919A>C (p.Asn1307His)	MSH6 (N1307H +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 42472	NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)	MSH6 (R1331* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 182672	NM_000179.3(MSH6):c.4001+2TAAC[4]	MSH6	Microsatellite (splice donor variant)	Breast and/or ovarian cancer +7 more	GBenign/Likely benign
Select item 89500	NM_000179.3(MSH6):c.4001+2TAAC[2]	MSH6	Microsatellite (splice donor variant)	Lynch syndrome	GLikely benign
Select item 641995	NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup)	MSH6	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 218079	NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter)	MSH6 (S1343* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 525857	NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)	MSH6 (E1348A +2 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 192222	NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)	MSH6 (K1358E +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 5 +3 more	GUncertain significance
Select item 142563	NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)	MSH6	Duplication (frameshift variant +1 more)	Endometrial carcinoma +6 more	GUncertain significance
Select item 127720	NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	BARD1 (Q564* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 220186	NM_000249.4(MLH1):c.438A>G (p.Gln146=)	MLH1	Single nucleotide variant (synonymous variant +1 more)	Lynch syndrome	GLikely benign
Select item 41637	NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)	MLH1 (I655V +6 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 946224	NM_002439.5(MSH3):c.1453+5A>C	MSH3	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 760173	NM_002439.5(MSH3):c.1454-5del	MSH3	Deletion (intron variant)	Endometrial carcinoma +4 more	GBenign/Likely benign
Select item 780543	NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys)	MSH3 (E523K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 641087	NM_002439.5(MSH3):c.2016T>G (p.Ile672Met)	MSH3 (I672M)	Single nucleotide variant (missense variant)	MSH3-related disorder +4 more	GUncertain significance
Select item 36689	NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	PMS2 (N775S +9 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 36693	NM_000535.7(PMS2):c.780C>G (p.Ser260=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Lynch syndrome	GBenign
Select item 9245	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2 (S46I)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 127695	NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	PTEN (Q298E +2 more)	Single nucleotide variant (missense variant)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 13277	NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	FGFR2 (Y375C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +12 more	GPathogenic/Likely pathogenic
Select item 13272	NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)	FGFR2 (S252W +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +13 more	GPathogenic
Select item 141182	NM_000051.4(ATM):c.2921+1G>A	ATM	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 142126	NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	ATM, C11orf65 (K1964E)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +7 more	GConflicting classifications of pathogenicity

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