C0699790[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 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic
Select item 183787	NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 41754	NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys)	MUTYH (R474C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 more	GUncertain significance
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic/Likely pathogenic
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Carcinoma of colon +4 more	GPathogenic/Likely pathogenic
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Diffuse midline glioma, H3 K27-altered +7 more	GPathogenic/Likely pathogenic
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 +4 more	GPathogenic/Likely pathogenic
Select item 230971	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 234229	NM_001048174.2(MUTYH):c.305-1G>C	MUTYH	Single nucleotide variant (splice acceptor variant +1 more)	not provided +4 more	GPathogenic
Select item 5296	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH (Y90* +5 more)	Single nucleotide variant (nonsense +2 more)	Familial colorectal cancer +4 more	GPathogenic/Likely pathogenic
Select item 127845	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 90964	NM_000251.3(MSH2):c.23C>T (p.Thr8Met)	MSH2 (T8M)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GBenign
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	MSH2-related disorder +9 more	GConflicting classifications of pathogenicity
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 90583	NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)	MSH2 (Q419K +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 36566	NM_000251.3(MSH2):c.1511-9A>T	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 36568	NM_000251.3(MSH2):c.1666T>C (p.Leu556=)	MSH2	Single nucleotide variant (synonymous variant)	Lynch syndrome	GBenign
Select item 90750	NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)	MSH2 (T564A +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 90812	NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)	MSH2 (Q629R +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
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 183723	NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)	MSH6 (Q4*)	Single nucleotide variant (nonsense +1 more)	Breast and/or ovarian cancer +8 more	GPathogenic/Likely pathogenic
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 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 89256	NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	MSH6 (V415fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89289	NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	MSH6 (K854M +2 more)	Single nucleotide variant (missense variant)	not specified +8 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 89312	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	MSH6 (R911* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
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 89363	NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	MSH6 (F958fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
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 89744	NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)	MLH1 (R487* +5 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 17080	NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)	MLH1 (K618del +5 more)	Microsatellite (inframe_deletion +1 more)	Lynch syndrome	GPathogenic
Select item 17089	NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)	MLH1 (K618A +5 more)	Indel (missense variant +1 more)	Lynch syndrome	GBenign
Select item 90014	NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	MLH1 (R687W +7 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 90100	NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)	MLH1 (K751R +8 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 265443	NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1, LOC126806658 (R95* +1 more)	Single nucleotide variant (nonsense)	CTNNB1-related disorder +9 more	GPathogenic
Select item 526641	NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile)	PIK3CA (V146I)	Single nucleotide variant (missense variant)	not provided +14 more	GUncertain significance
Select item 403909	NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg)	PIK3CA (P377R)	Single nucleotide variant (missense variant)	Cowden syndrome +14 more	GUncertain significance
Select item 39705	NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	PIK3CA (H1047Y)	Single nucleotide variant (missense variant)	Cowden syndrome +17 more	GPathogenic
Select item 546226	NM_000142.5(FGFR3):c.200G>A (p.Gly67Asp)	FGFR3 (G67D)	Single nucleotide variant (missense variant +1 more)	Achondroplasia +15 more	GConflicting classifications of pathogenicity
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +31 more	GPathogenic
Select item 16339	NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	FGFR3 (S249C)	Single nucleotide variant (missense variant +1 more)	not provided +17 more	GPathogenic OOncogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +18 more	GPathogenic
Select item 16338	NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)	FGFR3 (N540K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +18 more	GPathogenic/Likely pathogenic
Select item 65855	NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)	FGFR3 (K650T +3 more)	Single nucleotide variant (missense variant +1 more)	Crouzon syndrome-acanthosis nigricans syndrome +15 more	GPathogenic
Select item 465350	NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser)	FGFR3 (A667S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +14 more	GUncertain significance
Select item 521225	NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser)	FGFR3 (N718S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 469859	NM_001127511.3(APC):c.-204A>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	APC-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 469828	NM_001127511.3(APC):c.-128G>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GConflicting classifications of pathogenicity
Select item 469802	NM_001127511.3(APC):c.1A>G (p.Met1Val)	APC (M1V)	Single nucleotide variant (missense variant +4 more)	not provided +5 more	GUncertain significance
Select item 184702	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC (R24*)	Single nucleotide variant (nonsense +2 more)	Familial multiple polyposis syndrome +9 more	GPathogenic/Likely pathogenic
Select item 140952	NM_000038.6(APC):c.637C>T (p.Arg213Ter)	APC (R213* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1 +7 more	GPathogenic
Select item 127312	NM_000038.6(APC):c.646C>T (p.Arg216Ter)	APC (R216* +3 more)	Single nucleotide variant (nonsense +2 more)	Familial multiple polyposis syndrome +8 more	GPathogenic
Select item 42248	NM_000038.6(APC):c.694C>T (p.Arg232Ter)	APC (R232* +3 more)	Single nucleotide variant (nonsense +2 more)	Desmoid disease, hereditary +7 more	GConflicting classifications of pathogenicity
Select item 411364	NM_000038.6(APC):c.791A>G (p.Gln264Arg)	APC (Q246R +5 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +7 more	GConflicting classifications of pathogenicity
Select item 184999	NM_000038.6(APC):c.847C>T (p.Arg283Ter)	APC (R265* +5 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1	GPathogenic FDA Recognized database
Select item 233970	NM_000038.6(APC):c.933+1G>A	APC	Single nucleotide variant (splice donor variant)	Desmoid disease, hereditary +5 more	GPathogenic/Likely pathogenic
Select item 217924	NM_000038.6(APC):c.1312+3A>G	APC	Single nucleotide variant (intron variant)	Familial multiple polyposis syndrome +9 more	GPathogenic/Likely pathogenic
Select item 42238	NM_000038.6(APC):c.1458T>C (p.Tyr486=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 231917	NM_000038.6(APC):c.1553C>T (p.Thr518Met)	APC (T500M +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 216151	NM_000038.6(APC):c.1606G>A (p.Glu536Lys)	APC (E518K +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 807	NM_000038.6(APC):c.1660C>T (p.Arg554Ter)	APC (R554* +12 more)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic
Select item 469719	NM_000038.6(APC):c.1762G>A (p.Val588Ile)	APC (V570I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 232924	NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)	APC (Y807C +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 810	NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)	APC (Y935* +12 more)	Single nucleotide variant (nonsense)	Familial multiple polyposis syndrome +8 more	GPathogenic
Select item 133518	NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)	APC (R1153C +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +9 more	GBenign/Likely benign
Select item 545962	NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)	APC (C1271* +12 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 1 +6 more	GPathogenic
Select item 433656	NM_000038.6(APC):c.3901dup (p.Thr1301fs)	APC (T1200fs +12 more)	Duplication (frameshift variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 132705	NM_000038.6(APC):c.4326T>A (p.Pro1442=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +9 more	GBenign
Select item 127294	NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)	APC (A1446T +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 41530	NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)	APC (P1458S +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +8 more	GConflicting classifications of pathogenicity
Select item 42242	NM_000038.6(APC):c.4479G>A (p.Thr1493=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +9 more	GBenign
Select item 469979	NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)	APC (K1598I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 184169	NM_000038.6(APC):c.5105G>A (p.Gly1702Glu)	APC (G1684E +12 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 92348	NM_000038.6(APC):c.5363G>A (p.Arg1788His)	APC (R1770H +12 more)	Single nucleotide variant (missense variant)	APC-Associated Polyposis Disorders +8 more	GConflicting classifications of pathogenicity
Select item 135709	NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)	APC (P1934L +12 more)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 186466	NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)	APC (P2068R +12 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma +5 more	GUncertain significance
Select item 141618	NM_000038.6(APC):c.6639G>A (p.Met2213Ile)	APC (M2195I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 41510	NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)	APC (S2242G +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +10 more	GConflicting classifications of pathogenicity
Select item 486735	NM_000038.6(APC):c.6736G>A (p.Val2246Ile)	APC (V2246I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GConflicting classifications of pathogenicity
Select item 41511	NM_000038.6(APC):c.6821C>T (p.Ala2274Val)	APC (A2274V +12 more)	Single nucleotide variant (missense variant)	not provided +10 more	GBenign/Likely benign
Select item 41512	NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)	APC (P2346S +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +8 more	GConflicting classifications of pathogenicity
Select item 470080	NM_000038.6(APC):c.7166G>A (p.Ser2389Asn)	APC (S2371N +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 141690	NM_000038.6(APC):c.8276G>A (p.Arg2759His)	APC (R2741H +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 141436	NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)	APC (S2779G +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 216188	NM_000038.6(APC):c.8462A>G (p.Asp2821Gly)	APC (D2803G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 234604	NM_000535.7(PMS2):c.2445+1G>T	PMS2	Single nucleotide variant (splice donor variant)	Hereditary nonpolyposis colon cancer +7 more	GPathogenic/Likely pathogenic
Select item 135067	NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	PMS2 (R563* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary nonpolyposis colorectal neoplasms +6 more	GPathogenic
Select item 91366	NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)	PMS2	Indel (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 127791	NM_000535.7(PMS2):c.475G>A (p.Val159Met)	PMS2 (V159M +3 more)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome +7 more	GConflicting classifications of pathogenicity
Select item 41682	NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	PTEN (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GLikely benign FDA Recognized database
Select item 8690	NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)	PTPRJ (Q276P)	Single nucleotide variant (missense variant)	PTPRJ-related disorder +2 more	GBenign/Likely benign
Select item 127344	NM_000051.4(ATM):c.202A>G (p.Ile68Val)	ATM (I68V)	Single nucleotide variant (missense variant)	Ataxia-telangiectasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 141763	NM_000051.4(ATM):c.2836A>G (p.Met946Val)	ATM (M946V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity

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