C1843330[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 801448	NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)	CLCNKB, LOC106501713 (R135* +1 more)	Single nucleotide variant (nonsense)	Bartter disease type 3 +3 more	GPathogenic/Likely pathogenic
Select item 1401756	NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del)	LRP5	Microsatellite (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1477838	NM_002335.4(LRP5):c.35T>A (p.Leu12Gln)	LRP5 (L12Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +9 more	GUncertain significance
Select item 1168683	NM_002335.4(LRP5):c.91+9G>C	LRP5	Single nucleotide variant (intron variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 1046369	NM_002335.4(LRP5):c.130C>T (p.Arg44Trp)	LRP5 (R44W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1468179	NM_002335.4(LRP5):c.143C>G (p.Ala48Gly)	LRP5 (A48G)	Single nucleotide variant (5 prime UTR variant +1 more)	Worth disease +8 more	GUncertain significance
Select item 1436157	NM_002335.4(LRP5):c.148G>A (p.Gly50Arg)	LRP5 (G50R)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +9 more	GUncertain significance
Select item 1041160	NM_002335.4(LRP5):c.164C>T (p.Ser55Phe)	LRP5 (S55F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 1567208	NM_002335.4(LRP5):c.201A>C (p.Ala67=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +8 more	GLikely benign
Select item 1514966	NM_002335.4(LRP5):c.220A>G (p.Lys74Glu)	LRP5 (K74E)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 1430712	NM_002335.4(LRP5):c.249C>T (p.Ser83=)	LRP5	Single nucleotide variant (synonymous variant +1 more)	Exudative vitreoretinopathy 4 +8 more	GConflicting classifications of pathogenicity
Select item 1011906	NM_002335.4(LRP5):c.284C>T (p.Thr95Met)	LRP5 (T95M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 195168	NM_002335.4(LRP5):c.295G>A (p.Val99Met)	LRP5 (V99M)	Single nucleotide variant (5 prime UTR variant +1 more)	Worth disease +8 more	GUncertain significance
Select item 857811	NM_002335.4(LRP5):c.358A>G (p.Lys120Glu)	LRP5 (K120E)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 498738	NM_002335.4(LRP5):c.407A>C (p.Asn136Thr)	LRP5 (N136T)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +9 more	GUncertain significance
Select item 853561	NM_002335.4(LRP5):c.408C>A (p.Asn136Lys)	LRP5 (N136K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 966231	NM_002335.4(LRP5):c.425G>A (p.Arg142Gln)	LRP5 (R142Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +8 more	GConflicting classifications of pathogenicity
Select item 1610682	NM_002335.4(LRP5):c.488+11dup	LRP5	Duplication (intron variant)	Worth disease +8 more	GLikely benign
Select item 1134955	NM_002335.4(LRP5):c.488+15G>A	LRP5	Single nucleotide variant (intron variant)	Worth disease +8 more	GLikely benign
Select item 796266	NM_002335.4(LRP5):c.489-7G>A	LRP5	Single nucleotide variant (intron variant)	Autosomal dominant osteopetrosis 1 +8 more	GLikely benign
Select item 623781	NM_002335.4(LRP5):c.523C>T (p.Arg175Trp)	LRP5 (R175W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 1043257	NM_002335.4(LRP5):c.533G>A (p.Arg178Gln)	LRP5 (R178Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +8 more	GConflicting classifications of pathogenicity
Select item 853488	NM_002335.4(LRP5):c.533G>T (p.Arg178Leu)	LRP5 (R178L)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 1402944	NM_002335.4(LRP5):c.556C>T (p.Arg186Trp)	LRP5 (R186W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 1391843	NM_002335.4(LRP5):c.575C>T (p.Ser192Leu)	LRP5 (S192L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 849611	NM_002335.4(LRP5):c.680C>T (p.Ser227Leu)	LRP5 (S227L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +9 more	GUncertain significance
Select item 1097926	NM_002335.4(LRP5):c.686+13G>A	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1168797	NM_002335.4(LRP5):c.687-17C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 4 +8 more	GBenign/Likely benign
Select item 726265	NM_002335.4(LRP5):c.714G>A (p.Thr238=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis with pseudoglioma +8 more	GLikely benign
Select item 1429763	NM_002335.4(LRP5):c.739G>A (p.Gly247Arg)	LRP5 (G247R)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 1640494	NM_002335.4(LRP5):c.883+9C>T	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +8 more	GBenign/Likely benign
Select item 1533114	NM_002335.4(LRP5):c.924C>T (p.His308=)	LRP5	Single nucleotide variant (synonymous variant +1 more)	Polycystic liver disease 4 with or without kidney cysts +8 more	GLikely benign
Select item 1578098	NM_002335.4(LRP5):c.1015+19_1015+23del	LRP5	Microsatellite (intron variant)	Autosomal dominant osteopetrosis 1 +8 more	GLikely benign
Select item 1168798	NM_002335.4(LRP5):c.1015+15C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 4 +8 more	GBenign
Select item 1151322	NM_002335.4(LRP5):c.1015+17G>C	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +8 more	GLikely benign
Select item 1116392	NM_002335.4(LRP5):c.1016-19A>G	LRP5	Single nucleotide variant (intron variant)	Worth disease +8 more	GLikely benign
Select item 1648830	NM_002335.4(LRP5):c.1016-10G>A	LRP5	Single nucleotide variant (intron variant)	Worth disease +8 more	GLikely benign
Select item 623782	NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys)	LRP5 (E341K)	Single nucleotide variant (5 prime UTR variant +1 more)	Osteoporosis +8 more	GUncertain significance
Select item 1391846	NM_002335.4(LRP5):c.1076C>T (p.Thr359Met)	LRP5 (T359M)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 736402	NM_002335.4(LRP5):c.1077G>A (p.Thr359=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +10 more	GBenign/Likely benign
Select item 1008864	NM_002335.4(LRP5):c.1096G>A (p.Val366Met)	LRP5 (V366M)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant osteopetrosis 1 +8 more	GUncertain significance
Select item 852712	NM_002335.4(LRP5):c.1132A>G (p.Ile378Val)	LRP5 (I378V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +9 more	GUncertain significance
Select item 797771	NM_002335.4(LRP5):c.1134C>T (p.Ile378=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant osteopetrosis 1 +9 more	GLikely benign
Select item 520692	NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)	LRP5 (A400V)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +10 more	GUncertain significance
Select item 743592	NM_002335.4(LRP5):c.1221G>A (p.Ala407=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GBenign/Likely benign
Select item 843651	NM_002335.4(LRP5):c.1226C>T (p.Thr409Met)	LRP5 (T409M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +9 more	GUncertain significance
Select item 733742	NM_002335.4(LRP5):c.1248C>T (p.Asn416=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Worth disease +8 more	GLikely benign
Select item 6269	NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter)	LRP5 (R428*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GPathogenic
Select item 1008154	NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln)	LRP5 (R428Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +9 more	GUncertain significance
Select item 867078	NM_002335.4(LRP5):c.1304C>T (p.Thr435Met)	LRP5 (T435M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 936010	NM_002335.4(LRP5):c.1310C>T (p.Thr437Met)	LRP5 (T437M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 852021	NM_002335.4(LRP5):c.1328C>T (p.Thr443Met)	LRP5 (T443M)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 1375624	NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser)	LRP5 (N446S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 284533	NM_002335.4(LRP5):c.1392C>T (p.Ile464=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +10 more	GBenign/Likely benign
Select item 498250	NM_002335.4(LRP5):c.1395A>C (p.Ala465=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 4 with or without kidney cysts +9 more	GBenign/Likely benign
Select item 1060268	NM_002335.4(LRP5):c.1412+11C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 1 +8 more	GConflicting classifications of pathogenicity
Select item 1641937	NM_002335.4(LRP5):c.1412+12G>A	LRP5	Single nucleotide variant (intron variant)	Bone mineral density quantitative trait locus 1 +8 more	GLikely benign
Select item 6274	NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	LRP5 (R494Q)	Single nucleotide variant (missense variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GPathogenic/Likely pathogenic
Select item 968174	NM_002335.4(LRP5):c.1484G>A (p.Arg495His)	LRP5 (R495H)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 964514	NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser)	LRP5 (G507S)	Single nucleotide variant (missense variant +1 more)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 1151524	NM_002335.4(LRP5):c.1563C>T (p.Asp521=)	LRP5	Single nucleotide variant (synonymous variant +1 more)	Worth disease +8 more	GLikely benign
Select item 1566550	NM_002335.4(LRP5):c.1585-10C>T	LRP5	Single nucleotide variant (intron variant)	Exudative vitreoretinopathy 4 +8 more	GLikely benign
Select item 1467355	NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser)	LRP5 (N531S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 498295	NM_002335.4(LRP5):c.1594G>C (p.Val532Leu)	LRP5 (V532L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GUncertain significance
Select item 745221	NM_002335.4(LRP5):c.1605G>A (p.Thr535=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +8 more	GLikely benign
Select item 1019385	NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser)	LRP5 (P546S)	Single nucleotide variant (5 prime UTR variant +1 more)	Bone mineral density quantitative trait locus 1 +9 more	GUncertain significance
Select item 1034705	NM_002335.4(LRP5):c.1642A>G (p.Ile548Val)	LRP5 (I548V)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 1506201	NM_002335.4(LRP5):c.1675T>C (p.Tyr559His)	LRP5 (Y559H)	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic liver disease 4 with or without kidney cysts +8 more	GUncertain significance
Select item 183254	NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys)	LRP5 (W560C)	Single nucleotide variant (5 prime UTR variant +1 more)	Worth disease +8 more	GUncertain significance
Select item 967636	NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys)	LRP5 (R565C)	Single nucleotide variant (5 prime UTR variant +1 more)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 746030	NM_002335.4(LRP5):c.1707G>A (p.Glu569=)	LRP5	Single nucleotide variant (5 prime UTR variant +1 more)	LRP5-related disorder +9 more	GLikely benign
Select item 939331	NM_002335.4(LRP5):c.1744A>G (p.Ile582Val)	LRP5 (I582V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +9 more	GUncertain significance
Select item 1093507	NM_002335.4(LRP5):c.1801+9G>A	LRP5	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1111844	NM_002335.4(LRP5):c.1887C>T (p.Ile629=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 1046602	NM_002335.4(LRP5):c.1910T>C (p.Met637Thr)	LRP5 (M637T +1 more)	Single nucleotide variant (missense variant)	Polycystic liver disease 4 with or without kidney cysts +8 more	GUncertain significance
Select item 1106871	NM_002335.4(LRP5):c.1923C>T (p.Ile641=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +8 more	GLikely benign
Select item 845985	NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr)	LRP5 (A654T +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 199077	NM_002335.4(LRP5):c.1968C>T (p.His656=)	LRP5	Single nucleotide variant (synonymous variant)	Polycystic liver disease 4 with or without kidney cysts +9 more	GBenign/Likely benign
Select item 934824	NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del)	LRP5 (N84del +1 more)	Microsatellite (inframe_deletion)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 6276	NM_002335.4(LRP5):c.1999G>A (p.Val667Met)	LRP5 (V667M +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +11 more	GBenign/Likely benign
Select item 1050043	NM_002335.4(LRP5):c.2015C>T (p.Thr672Met)	LRP5 (T672M +1 more)	Single nucleotide variant (missense variant)	Polycystic liver disease 4 with or without kidney cysts +8 more	GUncertain significance
Select item 1008757	NM_002335.4(LRP5):c.2020G>A (p.Val674Ile)	LRP5 (V674I +1 more)	Single nucleotide variant (missense variant)	Bone mineral density quantitative trait locus 1 +8 more	GUncertain significance
Select item 739921	NM_002335.4(LRP5):c.2022C>T (p.Val674=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 1096346	NM_002335.4(LRP5):c.2046T>C (p.Phe682=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 862600	NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn)	LRP5 (D102N +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1050777	NM_002335.4(LRP5):c.2051T>C (p.Val684Ala)	LRP5 (V103A +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1161961	NM_002335.4(LRP5):c.2115C>T (p.Asn705=)	LRP5	Single nucleotide variant (synonymous variant)	Worth disease +9 more	GLikely benign
Select item 933748	NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu)	LRP5 (S708L +1 more)	Single nucleotide variant (missense variant)	Osteoporosis with pseudoglioma +8 more	GUncertain significance
Select item 1430467	NM_002335.4(LRP5):c.2134G>A (p.Val712Met)	LRP5 (V712M +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 932911	NM_002335.4(LRP5):c.2137G>C (p.Val713Leu)	LRP5 (V132L +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 382550	NM_002335.4(LRP5):c.2139G>A (p.Val713=)	LRP5	Single nucleotide variant (synonymous variant)	Exudative vitreoretinopathy 1 +9 more	GBenign/Likely benign
Select item 1026913	NM_002335.4(LRP5):c.2173G>A (p.Val725Ile)	LRP5 (V144I +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 4 +8 more	GUncertain significance
Select item 798871	NM_002335.4(LRP5):c.2175T>C (p.Val725=)	LRP5	Single nucleotide variant (synonymous variant)	LRP5-related disorder +9 more	GLikely benign
Select item 193641	NM_002335.4(LRP5):c.2193C>T (p.Asn731=)	LRP5	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta +10 more	GBenign/Likely benign
Select item 723487	NM_002335.4(LRP5):c.2226C>T (p.Ile742=)	LRP5	Single nucleotide variant (synonymous variant)	Osteoporosis with pseudoglioma +8 more	GLikely benign
Select item 193642	NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp)	LRP5 (R746W +1 more)	Single nucleotide variant (missense variant)	Exudative vitreoretinopathy 1 +8 more	GUncertain significance
Select item 723629	NM_002335.4(LRP5):c.2265C>T (p.Leu755=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign
Select item 283075	NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser)	LRP5 (G773S +1 more)	Single nucleotide variant (missense variant)	not provided +8 more	GUncertain significance
Select item 1005795	NM_002335.4(LRP5):c.2318+3_2318+6del	LRP5	Deletion (splice donor variant)	not provided +8 more	GUncertain significance
Select item 1141707	NM_002335.4(LRP5):c.2334C>T (p.Thr778=)	LRP5	Single nucleotide variant (synonymous variant)	not provided +8 more	GLikely benign

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