C4540036[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 286386	NM_207361.6(FREM2):c.38G>A (p.Arg13Gln)	FREM2 (R13Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884195	NM_207361.6(FREM2):c.65C>T (p.Pro22Leu)	FREM2 (P22L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 193533	NM_207361.6(FREM2):c.84C>G (p.Pro28=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 704854	NM_207361.6(FREM2):c.111C>T (p.Leu37=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1628444	NM_207361.6(FREM2):c.219G>A (p.Val73=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 311938	NM_207361.6(FREM2):c.532C>A (p.Gln178Lys)	FREM2 (Q178K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 882277	NM_207361.6(FREM2):c.560C>T (p.Pro187Leu)	FREM2 (P187L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1596881	NM_207361.6(FREM2):c.567C>T (p.Val189=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 740519	NM_207361.6(FREM2):c.714G>A (p.Gln238=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GBenign/Likely benign
Select item 882544	NM_207361.6(FREM2):c.787G>A (p.Gly263Ser)	FREM2 (G263S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 1418786	NM_207361.6(FREM2):c.826A>G (p.Asn276Asp)	FREM2 (N276D)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1313004	NM_207361.6(FREM2):c.881G>A (p.Gly294Asp)	FREM2 (G294D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1393442	NM_207361.6(FREM2):c.1192C>G (p.Pro398Ala)	FREM2 (P398A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1363760	NM_207361.6(FREM2):c.1284G>A (p.Met428Ile)	FREM2 (M428I)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 311945	NM_207361.6(FREM2):c.1369C>G (p.Leu457Val)	FREM2 (L457V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GUncertain significance
Select item 1399032	NM_207361.6(FREM2):c.1394C>T (p.Pro465Leu)	FREM2 (P465L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 311947	NM_207361.6(FREM2):c.1505C>T (p.Ser502Phe)	FREM2 (S502F)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 311948	NM_207361.6(FREM2):c.1518C>T (p.Ser506=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 880962	NM_207361.6(FREM2):c.1677G>C (p.Gln559His)	FREM2 (Q559H)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 880963	NM_207361.6(FREM2):c.1837C>T (p.Arg613Cys)	FREM2 (R613C)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1511048	NM_207361.6(FREM2):c.2075G>A (p.Arg692His)	FREM2 (R692H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1510546	NM_207361.6(FREM2):c.2093G>A (p.Arg698His)	FREM2 (R698H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 882324	NM_207361.6(FREM2):c.2103G>A (p.Pro701=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GConflicting classifications of pathogenicity
Select item 311954	NM_207361.6(FREM2):c.2111G>A (p.Gly704Asp)	FREM2 (G704D)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 625182	NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter)	FREM2 (R736*)	Single nucleotide variant (nonsense)	Isolated cryptophthalmia +2 more	GPathogenic
Select item 882592	NM_207361.6(FREM2):c.2308G>T (p.Val770Leu)	FREM2 (V770L)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 882594	NM_207361.6(FREM2):c.2366C>T (p.Pro789Leu)	FREM2 (P789L)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 311958	NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)	FREM2 (G811E)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GUncertain significance
Select item 1472244	NM_207361.6(FREM2):c.2473G>A (p.Val825Met)	FREM2 (V825M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1425953	NM_207361.6(FREM2):c.2538C>A (p.Ile846=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 705796	NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile)	FREM2 (T867I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 283915	NM_207361.6(FREM2):c.2801G>A (p.Arg934Gln)	FREM2 (R934Q)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 881020	NM_207361.6(FREM2):c.2972A>C (p.Tyr991Ser)	FREM2 (Y991S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 1468169	NM_207361.6(FREM2):c.2987T>A (p.Val996Asp)	FREM2 (V996D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 311963	NM_207361.6(FREM2):c.3254T>C (p.Ile1085Thr)	FREM2 (I1085T)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 1390748	NM_207361.6(FREM2):c.3712A>G (p.Ile1238Val)	FREM2 (I1238V)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 744713	NM_207361.6(FREM2):c.3747C>T (p.Val1249=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GLikely benign
Select item 311967	NM_207361.6(FREM2):c.3753C>T (p.Ser1251=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GBenign/Likely benign
Select item 499703	NM_207361.6(FREM2):c.3785G>C (p.Ser1262Thr)	FREM2 (S1262T)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 311968	NM_207361.6(FREM2):c.3794A>G (p.Tyr1265Cys)	FREM2 (Y1265C)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1311791	NM_207361.6(FREM2):c.3830T>G (p.Phe1277Cys)	FREM2 (F1277C)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1469616	NM_207361.6(FREM2):c.3967A>C (p.Asn1323His)	FREM2 (N1323H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 311971	NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)	FREM2 (R1344H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1687466	NM_207361.6(FREM2):c.4150C>T (p.His1384Tyr)	FREM2 (H1384Y)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 883419	NM_207361.6(FREM2):c.4172G>A (p.Arg1391Gln)	FREM2 (R1391Q)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 311976	NM_207361.6(FREM2):c.4255A>G (p.Ile1419Val)	FREM2 (I1419V)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 193531	NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu)	FREM2 (G1428E)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1486198	NM_207361.6(FREM2):c.4439C>T (p.Thr1480Met)	FREM2 (T1480M)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 311978	NM_207361.6(FREM2):c.4558C>T (p.Arg1520Trp)	FREM2 (R1520W)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 881063	NM_207361.6(FREM2):c.4561A>C (p.Thr1521Pro)	FREM2 (T1521P)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 1192243	NM_207361.6(FREM2):c.4569T>C (p.Arg1523=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +3 more	GLikely benign
Select item 705816	NM_207361.6(FREM2):c.4581C>T (p.Ser1527=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GLikely benign
Select item 285789	NM_207361.6(FREM2):c.4588G>C (p.Asp1530His)	FREM2 (D1530H)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 767472	NM_207361.6(FREM2):c.4632T>C (p.Ser1544=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 281547	NM_207361.6(FREM2):c.4686T>C (p.Asp1562=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1487832	NM_207361.6(FREM2):c.4886A>G (p.Tyr1629Cys)	FREM2 (Y1629C)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 311983	NM_207361.6(FREM2):c.4889T>C (p.Val1630Ala)	FREM2 (V1630A)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 289938	NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)	FREM2 (E1687S)	Inversion (missense variant)	not provided +3 more	GUncertain significance
Select item 702098	NM_207361.6(FREM2):c.5109C>T (p.Ala1703=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 983512	NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)	FREM2 (F1722fs)	Duplication (frameshift variant)	Fraser syndrome 2 +2 more	GPathogenic/Likely pathogenic
Select item 1600809	NM_207361.6(FREM2):c.5264-19T>G	FREM2	Single nucleotide variant (intron variant)	Isolated cryptophthalmia +2 more	GBenign/Likely benign
Select item 196606	NM_207361.6(FREM2):c.5276T>C (p.Leu1759Ser)	FREM2 (L1759S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 883468	NM_207361.6(FREM2):c.5378G>A (p.Arg1793His)	FREM2 (R1793H)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 702387	NM_207361.6(FREM2):c.5544G>A (p.Glu1848=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 739770	NM_207361.6(FREM2):c.5625C>T (p.Ile1875=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 311998	NM_207361.6(FREM2):c.5722G>A (p.Gly1908Arg)	FREM2 (G1908R)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 312001	NM_207361.6(FREM2):c.6036C>T (p.Phe2012=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GBenign/Likely benign
Select item 198939	NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val)	FREM2 (A2091V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 883515	NM_207361.6(FREM2):c.6367T>C (p.Ser2123Pro)	FREM2 (S2123P)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 595837	NM_207361.6(FREM2):c.6421G>A (p.Glu2141Lys)	FREM2 (E2141K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 703331	NM_207361.6(FREM2):c.6465T>C (p.Asp2155=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 284705	NM_207361.6(FREM2):c.6490T>C (p.Cys2164Arg)	FREM2 (C2164R)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1465804	NM_207361.6(FREM2):c.6852G>T (p.Lys2284Asn)	FREM2 (K2284N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 287574	NM_207361.6(FREM2):c.6860T>C (p.Ile2287Thr)	FREM2 (I2287T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 703148	NM_207361.6(FREM2):c.7068C>T (p.Ala2356=)	FREM2	Single nucleotide variant (synonymous variant)	Fraser syndrome 2 +2 more	GBenign/Likely benign
Select item 1497890	NM_207361.6(FREM2):c.7103A>T (p.Asp2368Val)	FREM2 (D2368V)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 312013	NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr)	FREM2 (A2393T)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 746948	NM_207361.6(FREM2):c.7216-4G>A	FREM2	Single nucleotide variant (intron variant)	Isolated cryptophthalmia +2 more	GLikely benign
Select item 312016	NM_207361.6(FREM2):c.7335T>C (p.Gly2445=)	FREM2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 729285	NM_207361.6(FREM2):c.7359G>A (p.Val2453=)	FREM2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1347477	NM_207361.6(FREM2):c.7366G>A (p.Asp2456Asn)	FREM2 (D2456N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 882780	NM_207361.6(FREM2):c.7441G>A (p.Ala2481Thr)	FREM2 (A2481T)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +2 more	GUncertain significance
Select item 1539234	NM_207361.6(FREM2):c.7520-16_7520-15insGT	FREM2	Insertion (intron variant)	Isolated cryptophthalmia +2 more	GBenign/Likely benign
Select item 194575	NM_207361.6(FREM2):c.7520-6_7520-5dup	FREM2	Duplication (intron variant)	not provided +3 more	GBenign
Select item 194574	NM_207361.6(FREM2):c.7520-5dup	FREM2	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 312017	NM_207361.6(FREM2):c.7520-5del	FREM2	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 883565	NM_207361.6(FREM2):c.7873C>A (p.Arg2625Ser)	FREM2 (R2625S)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +3 more	GUncertain significance
Select item 312021	NM_207361.6(FREM2):c.7936T>G (p.Ser2646Ala)	FREM2 (S2646A)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 194804	NM_207361.6(FREM2):c.8100T>G (p.Leu2700=)	FREM2, LOC130009588	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1179176	NM_207361.6(FREM2):c.8176+2dup	FREM2	Duplication (splice donor variant)	Fraser syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 312026	NM_207361.6(FREM2):c.8218C>T (p.Arg2740Cys)	FREM2 (R2740C)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 1517545	NM_207361.6(FREM2):c.8227G>A (p.Val2743Met)	FREM2 (V2743M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1345742	NM_207361.6(FREM2):c.8342G>A (p.Arg2781His)	FREM2 (R2781H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 593856	NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)	FREM2	Single nucleotide variant (synonymous variant)	Isolated cryptophthalmia +3 more	GBenign/Likely benign
Select item 312030	NM_207361.6(FREM2):c.8461C>G (p.Pro2821Ala)	FREM2 (P2821A)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GUncertain significance
Select item 312031	NM_207361.6(FREM2):c.8509C>T (p.Pro2837Ser)	FREM2 (P2837S)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 312034	NM_207361.6(FREM2):c.8842T>C (p.Tyr2948His)	FREM2 (Y2948H)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +1 more	GUncertain significance
Select item 195789	NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)	FREM2 (V2968I)	Single nucleotide variant (missense variant)	Isolated cryptophthalmia +4 more	GBenign/Likely benign
Select item 499707	NM_207361.6(FREM2):c.8906T>C (p.Leu2969Pro)	FREM2 (L2969P)	Single nucleotide variant (missense variant)	Fraser syndrome 2 +3 more	GUncertain significance
Select item 742112	NM_207361.6(FREM2):c.9007-8C>T	FREM2	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign

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