C5399763[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 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity
Select item 186849	NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)	MSH2 (G126S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 182576	NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)	MSH2 (L128R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +9 more	GConflicting classifications of pathogenicity
Select item 483732	NM_000251.3(MSH2):c.464T>C (p.Val155Ala)	MSH2 (V155A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 91235	NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	MSH2 (E290* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90512	NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	MSH2 (P349A +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 90519	NM_000251.3(MSH2):c.1076+1G>A	MSH2	Single nucleotide variant (splice donor variant)	Lynch syndrome	GPathogenic
Select item 90554	NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	MSH2 (R383* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90569	NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)	MSH2 (R406Q +1 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 127629	NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)	MSH2 (Q413P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 216341	NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)	MSH2 (I418M +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 41645	NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)	MSH2 (N583S +1 more)	Single nucleotide variant (missense variant)	Mismatch repair cancer syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 41646	NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)	MSH2 (N596S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome +8 more	GConflicting classifications of pathogenicity
Select item 219605	NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)	MSH2 (Q601R +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 230023	NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)	MSH2 (A609S +1 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 90804	NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	MSH2 (R621* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1764	NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	MSH2 (A636P +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 161299	NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)	MSH2 (E643K +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 36571	NM_000251.3(MSH2):c.2006-6T>C	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90855	NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)	MSH2 (P670L +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 90903	NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	MSH2 (R711* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 90990	NM_000251.3(MSH2):c.2516A>G (p.His839Arg)	MSH2 (H839R +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer +8 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 89600	NM_000249.4(MLH1):c.-93G>A	MLH1	Single nucleotide variant	Lynch syndrome	GBenign
Select item 89593	NM_000249.4(MLH1):c.-42C>T	MLH1	Single nucleotide variant (genic upstream transcript variant)	Hereditary nonpolyposis colorectal neoplasms +6 more	GUncertain significance
Select item 479684	NM_000249.4(MLH1):c.53G>A (p.Arg18His)	MLH1 (R18H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 90306	NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)	MLH1 (G22A)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 420921	NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)	MLH1 (A31T)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GUncertain significance
Select item 90442	NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)	MLH1 (A31C)	Indel (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1036341	NM_000249.4(MLH1):c.185A>G (p.Gln62Arg)	MLH1 (Q62R)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GUncertain significance
Select item 90032	NM_000249.4(MLH1):c.208-3C>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely pathogenic
Select item 237335	NM_000249.4(MLH1):c.226G>A (p.Val76Ile)	MLH1 (V76I)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GUncertain significance
Select item 642117	NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)	MLH1 (C77G)	Single nucleotide variant (missense variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GUncertain significance
Select item 233361	NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)	MLH1 (T81S)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GUncertain significance
Select item 90132	NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)	MLH1 (R100Q +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +7 more	GUncertain significance
Select item 90148	NM_000249.4(MLH1):c.306+5G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 68849	NM_000249.4(MLH1):c.307-19A>G	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GLikely benign
Select item 90176	NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)	MLH1 (T116K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
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 1043401	NM_000249.4(MLH1):c.553G>A (p.Val185Ile)	MLH1 (V152I +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GConflicting classifications of pathogenicity
Select item 90285	NM_000249.4(MLH1):c.588+5G>A	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome	GPathogenic
Select item 36555	NM_000249.4(MLH1):c.588+11G>C	MLH1	Single nucleotide variant (intron variant)	Lynch syndrome 1	GBenign
Select item 941211	NM_000249.4(MLH1):c.589-1G>A	MLH1	Single nucleotide variant (splice acceptor variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +4 more	GPathogenic/Likely pathogenic
Select item 90290	NM_000249.4(MLH1):c.589-1G>T	MLH1	Single nucleotide variant (splice acceptor variant)	Lynch syndrome	GLikely pathogenic
Select item 220367	NM_000249.4(MLH1):c.650G>A (p.Arg217His)	MLH1 (R217H +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GConflicting classifications of pathogenicity
Select item 618211	NM_000249.4(MLH1):c.726G>A (p.Met242Ile)	MLH1 (M242I +3 more)	Single nucleotide variant (missense variant +3 more)	Colorectal cancer, hereditary nonpolyposis, type 2 +5 more	GUncertain significance
Select item 1404368	NM_000249.4(MLH1):c.816del (p.Arg273fs)	MLH1 (R240fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 418300	NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)	MLH1 (K274R +3 more)	Single nucleotide variant (missense variant +1 more)	Mismatch repair cancer syndrome 1 +6 more	GUncertain significance
Select item 455457	NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)	MLH1 (A282T +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 580133	NM_000249.4(MLH1):c.885-1G>A	MLH1	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +4 more	GPathogenic/Likely pathogenic
Select item 90452	NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)	MLH1 (E319K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 89605	NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)	MLH1 (N338S +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +9 more	GConflicting classifications of pathogenicity
Select item 182518	NM_000249.4(MLH1):c.1039-3C>G	MLH1	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 525673	NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)	MLH1 (G351R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GConflicting classifications of pathogenicity
Select item 186843	NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)	MLH1 (G373R +5 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 219728	NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)	MLH1 (G373E +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 41632	NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)	MLH1 (V384D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 89653	NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)	MLH1 (R385C +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer +10 more	GConflicting classifications of pathogenicity
Select item 140759	NM_000249.4(MLH1):c.1154G>A (p.Arg385His)	MLH1 (R385H +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +7 more	GConflicting classifications of pathogenicity
Select item 41633	NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)	MLH1 (R389Q +5 more)	Single nucleotide variant (missense variant)	Colorectal cancer, hereditary nonpolyposis, type 2 +6 more	GConflicting classifications of pathogenicity
Select item 41634	NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)	MLH1 (S406N +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 182524	NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)	MLH1 (D415N +5 more)	Single nucleotide variant (missense variant)	Breast and/or ovarian cancer +6 more	GUncertain significance
Select item 127612	NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)	MLH1 (E448D +5 more)	Single nucleotide variant (missense variant)	Lynch syndrome +6 more	GConflicting classifications of pathogenicity
Select item 89705	NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)	MLH1 (G454R +5 more)	Single nucleotide variant (missense variant)	Hereditary nonpolyposis colorectal neoplasms +8 more	GConflicting classifications of pathogenicity

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