C2239176[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 333498	NM_001372051.1(CASP8):c.339C>T (p.Ser113=)	CASP8	Single nucleotide variant (synonymous variant +2 more)	Autoimmune lymphoproliferative syndrome type 2B +4 more	GBenign/Likely benign
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 268080	NM_198253.3(TERT):c.887A>C (p.His296Pro)	TERT (H296P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 2 +9 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)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 469849	NM_001127511.3(APC):c.-167G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 1043177	NM_001127511.3(APC):c.-142G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastric adenocarcinoma and proximal polyposis of the stomach +5 more	GUncertain significance
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 1010774	NM_001127511.3(APC):c.-88T>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 537673	NM_001127511.3(APC):c.-32C>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Desmoid disease, hereditary +5 more	GUncertain significance
Select item 469802	NM_001127511.3(APC):c.1A>G (p.Met1Val)	APC (M1V)	Single nucleotide variant (missense variant +4 more)	Familial adenomatous polyposis 1 +5 more	GUncertain significance
Select item 184702	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC (R24*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 470090	NM_000038.6(APC):c.74_75del (p.Gln25fs)	APC (Q25fs)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 1 +7 more	GPathogenic
Select item 411444	NM_000038.6(APC):c.212G>A (p.Arg71His)	APC (R71H +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +9 more	GConflicting classifications of pathogenicity
Select item 1646016	NM_000038.6(APC):c.422+10C>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +5 more	GLikely benign
Select item 802132	NM_000038.6(APC):c.423-4dup	APC	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 181781	NM_000038.6(APC):c.423-4del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 215430	NM_000038.6(APC):c.573T>C (p.Tyr191=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +9 more	GBenign/Likely benign
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 +8 more	GPathogenic OOncogenic
Select item 814	NM_000038.6(APC):c.643C>T (p.Gln215Ter)	APC (Q215* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified +8 more	GPathogenic
Select item 127312	NM_000038.6(APC):c.646C>T (p.Arg216Ter)	APC (R216* +3 more)	Single nucleotide variant (nonsense +2 more)	Classic or attenuated familial adenomatous polyposis +9 more	GPathogenic OOncogenic
Select item 42248	NM_000038.6(APC):c.694C>T (p.Arg232Ter)	APC (R232* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic OLikely oncogenic
Select item 411335	NM_000038.6(APC):c.776G>A (p.Arg259Gln)	APC (R241Q +5 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +9 more	GUncertain significance
Select item 411364	NM_000038.6(APC):c.791A>G (p.Gln264Arg)	APC (Q246R +5 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +7 more	GConflicting classifications of pathogenicity
Select item 419482	NM_000038.6(APC):c.813G>A (p.Met271Ile)	APC (M253I +5 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +9 more	GUncertain significance
Select item 822326	NM_000038.6(APC):c.835-17A>G	APC	Single nucleotide variant (intron variant)	Desmoid disease, hereditary +6 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 141276	NM_000038.6(APC):c.854A>G (p.Asp285Gly)	APC (D267G +6 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 233970	NM_000038.6(APC):c.933+1G>A	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1 +5 more	GPathogenic/Likely pathogenic
Select item 184937	NM_000038.6(APC):c.994C>T (p.Arg332Ter)	APC (R314* +6 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +9 more	GPathogenic
Select item 469700	NM_000038.6(APC):c.1193A>G (p.Lys398Arg)	APC (K380R +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 181785	NM_000038.6(APC):c.1241G>A (p.Arg414His)	APC (R396H +10 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 215553	NM_000038.6(APC):c.1242C>T (p.Arg414=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 217924	NM_000038.6(APC):c.1312+3A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +9 more	GPathogenic/Likely pathogenic
Select item 230838	NM_000038.6(APC):c.1333C>G (p.Gln445Glu)	APC (Q427E +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
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 229743	NM_000038.6(APC):c.1538T>C (p.Val513Ala)	APC (V495A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 231917	NM_000038.6(APC):c.1553C>T (p.Thr518Met)	APC (T500M +12 more)	Single nucleotide variant (missense variant)	not provided +7 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)	Familial adenomatous polyposis 1 +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)	Hepatocellular carcinoma +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 619767	NM_000038.6(APC):c.2114G>A (p.Ser705Asn)	APC (S687N +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GConflicting classifications of pathogenicity
Select item 469731	NM_000038.6(APC):c.2160G>A (p.Met720Ile)	APC (M702I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GUncertain significance
Select item 232924	NM_000038.6(APC):c.2474A>G (p.Tyr825Cys)	APC (Y807C +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GConflicting classifications of pathogenicity
Select item 142010	NM_000038.6(APC):c.2476T>G (p.Leu826Val)	APC (L808V +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 1321122	NM_000038.6(APC):c.2573T>C (p.Ile858Thr)	APC (I575T +12 more)	Single nucleotide variant (missense variant)	not provided +7 more	GUncertain significance
Select item 810	NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)	APC (Y935* +12 more)	Single nucleotide variant (nonsense)	Hepatocellular carcinoma +8 more	GPathogenic
Select item 657803	NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)	APC (K987T +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 490261	NM_000038.6(APC):c.3365A>G (p.Asn1122Ser)	APC (N1104S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GUncertain significance
Select item 485090	NM_000038.6(APC):c.3490A>G (p.Ile1164Val)	APC (I1164V +12 more)	Single nucleotide variant (missense variant)	Gastric cancer +6 more	GUncertain significance
Select item 133518	NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)	APC (R1153C +12 more)	Single nucleotide variant (missense variant)	Gastric adenocarcinoma and proximal polyposis of the stomach +9 more	GBenign/Likely benign
Select item 946225	NM_000038.6(APC):c.3515A>T (p.His1172Leu)	APC (H1071L +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 568688	NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)	APC (P1203S +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GConflicting classifications of pathogenicity
Select item 545962	NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)	APC (C1271* +12 more)	Single nucleotide variant (nonsense)	Carcinoma of colon +6 more	GPathogenic
Select item 433656	NM_000038.6(APC):c.3901dup (p.Thr1301fs)	APC (T1200fs +12 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +8 more	GPathogenic/Likely pathogenic
Select item 132705	NM_000038.6(APC):c.4326T>A (p.Pro1442=)	APC	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 411562	NM_000038.6(APC):c.4332A>T (p.Gln1444His)	APC (Q1426H +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GConflicting classifications of pathogenicity
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 411419	NM_000038.6(APC):c.4399C>T (p.Pro1467Ser)	APC (P1467S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 1392042	NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)	APC (Q1487R +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 42242	NM_000038.6(APC):c.4479G>A (p.Thr1493=)	APC	Single nucleotide variant (synonymous variant)	Gastric cancer +9 more	GBenign
Select item 618532	NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)	APC (N1263fs +12 more)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 469979	NM_000038.6(APC):c.4847A>T (p.Lys1616Ile)	APC (K1598I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 236610	NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)	APC (T1637A +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GConflicting classifications of pathogenicity
Select item 216168	NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)	APC (E1645K +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 411500	NM_000038.6(APC):c.5011G>A (p.Ala1671Thr)	APC (A1653T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 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 439411	NM_000038.6(APC):c.5265_5268delinsATCG (p.Ala1755_Ser1756=)	APC	Indel (synonymous variant +1 more)	Hepatocellular carcinoma +6 more	GBenign/Likely benign
Select item 236617	NM_000038.6(APC):c.5282A>C (p.Asn1761Thr)	APC (N1743T +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +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)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 489471	NM_000038.6(APC):c.5615T>A (p.Val1872Asp)	APC (V1854D +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 229993	NM_000038.6(APC):c.5627G>T (p.Arg1876Met)	APC (R1858M +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +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 specified +10 more	GConflicting classifications of pathogenicity
Select item 350416	NM_000038.6(APC):c.5894A>C (p.His1965Pro)	APC (H1965P +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 923281	NM_000038.6(APC):c.6218G>A (p.Gly2073Asp)	APC (G1947D +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GUncertain significance
Select item 186466	NM_000038.6(APC):c.6257C>G (p.Pro2086Arg)	APC (P2068R +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +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)	Familial adenomatous polyposis 1 +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 +9 more	GConflicting classifications of pathogenicity
Select item 489485	NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)	APC (T2225A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 486735	NM_000038.6(APC):c.6736G>A (p.Val2246Ile)	APC (V2246I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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 581975	NM_000038.6(APC):c.7097A>G (p.Tyr2366Cys)	APC (Y2366C +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 232940	NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)	APC (P2351S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 470078	NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)	APC (T2361S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GUncertain significance
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 186722	NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)	APC (L2493F +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 41537	NM_000038.6(APC):c.7757G>T (p.Ser2586Ile)	APC (S2586I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 127321	NM_000038.6(APC):c.7808A>G (p.Glu2603Gly)	APC (E2603G +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance

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