CN169374[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 263203	NM_198576.4(AGRN):c.738C>T (p.Asp246=)	AGRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 263164	NM_198576.4(AGRN):c.1603+19G>A	AGRN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 263194	NM_198576.4(AGRN):c.5025C>T (p.Gly1675=)	AGRN	Single nucleotide variant (synonymous variant)	Congenital myasthenic syndrome 8 +2 more	GBenign/Likely benign
Select item 139111	NM_003036.4(SKI):c.456C>T (p.Arg152=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 373594	NM_003036.4(SKI):c.464C>G (p.Ala155Gly)	SKI (A155G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 139114	NM_003036.4(SKI):c.1311C>T (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139115	NM_003036.4(SKI):c.1446G>A (p.Ala482=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 213677	NM_003036.4(SKI):c.1593T>C (p.Pro531=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 227857	NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)	PRDM16 (A34T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 227858	NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 413858	NM_022114.4(PRDM16):c.1599G>A (p.Ser533=)	PRDM16	Single nucleotide variant (synonymous variant)	Left ventricular noncompaction 8 +1 more	GBenign/Likely benign
Select item 227862	NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)	PRDM16 (V562I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 541394	NM_022114.4(PRDM16):c.2603+6C>T	PRDM16	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 487607	NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)	PRDM16 (P889L)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +2 more	GUncertain significance
Select item 227031	NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 241428	NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)	PRDM16	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 565392	NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)	PRDM16 (E1119D)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance
Select item 188389	NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)	NPHP4 (R1192W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GLikely benign
Select item 95682	NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)	NPHP4 (A1110V +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GConflicting classifications of pathogenicity
Select item 167372	NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile)	NPHP4 (V1061I +2 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 4 +3 more	GUncertain significance
Select item 289035	NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met)	NPHP4 (T980M +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +5 more	GUncertain significance
Select item 95678	NM_015102.5(NPHP4):c.2724G>A (p.Ser908=)	NPHP4	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +5 more	GBenign/Likely benign
Select item 219984	NM_015102.5(NPHP4):c.1542G>A (p.Pro514=)	NPHP4	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis 4 +3 more	GBenign/Likely benign
Select item 260544	NM_015102.5(NPHP4):c.1500A>G (p.Pro500=)	NPHP4	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
Select item 284999	NM_015102.5(NPHP4):c.1445C>T (p.Pro482Leu)	NPHP4 (P482L)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 199135	NM_015102.5(NPHP4):c.1089G>T (p.Val363=)	NPHP4	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 260549	NM_015102.5(NPHP4):c.280-6C>G	NPHP4	Single nucleotide variant (intron variant)	Nephronophthisis 4 +3 more	GLikely benign
Select item 196471	NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)	NPHP4 (F91L)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 220231	NM_015102.5(NPHP4):c.136-4del	NPHP4	Deletion (intron variant)	Renal dysplasia and retinal aplasia +4 more	GBenign/Likely benign
Select item 595012	NM_015102.5(NPHP4):c.96G>T (p.Gln32His)	NPHP4 (Q32H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified +3 more	GUncertain significance
Select item 517052	NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile)	ESPN (T429I)	Single nucleotide variant (missense variant)	Usher syndrome, type 1M +2 more	GBenign/Likely benign
Select item 226635	NM_031475.3(ESPN):c.2070G>A (p.Ser690=)	ESPN	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 36 +3 more	GBenign/Likely benign
Select item 465831	NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)	PARK7 (R98Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1029018	NM_001080397.3(SLC45A1):c.1582G>A (p.Val528Ile)	SLC45A1 (V497I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 474022	NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=)	PIK3CD	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 259438	NM_004565.3(PEX14):c.873C>T (p.His291=)	PEX14	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 408296	NM_004958.4(MTOR):c.5653G>A (p.Val1885Ile)	MTOR (V1885I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 498489	NM_005957.5(MTHFR):c.1959G>A (p.Thr653=)	MTHFR	Single nucleotide variant (synonymous variant)	Thrombophilia due to thrombin defect +6 more	GBenign/Likely benign
Select item 222893	NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)	MTHFR (T139M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 126847	NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)	LOC114827827, NPPA +1 more (S64R)	Single nucleotide variant (missense variant)	Atrial fibrillation, familial, 6 +3 more	GBenign/Likely benign
Select item 944170	NM_006172.4(NPPA):c.25G>A (p.Val9Met)	LOC114827827, NPPA (V9M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 422689	NM_000302.4(PLOD1):c.-9_2del (p.Met1fs)	PLOD1 (M1fs)	Deletion (frameshift variant +1 more)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +3 more	GUncertain significance
Select item 264381	NM_000302.4(PLOD1):c.95C>T (p.Thr32Met)	PLOD1 (T32M +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 440166	NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe)	PLOD1 (L188F +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 508185	NM_000302.4(PLOD1):c.579+17G>A	PLOD1	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1 +1 more	GLikely benign
Select item 498773	NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg)	PLOD1 (K476R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance
Select item 451743	NM_000302.4(PLOD1):c.1667A>G (p.Tyr556Cys)	PLOD1 (Y556C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 138220	NM_014874.4(MFN2):c.165C>T (p.Thr55=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GBenign/Likely benign
Select item 138210	NM_014874.4(MFN2):c.408A>T (p.Val136=)	MFN2	Single nucleotide variant (synonymous variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GBenign/Likely benign
Select item 390697	NM_014874.4(MFN2):c.564C>T (p.Cys188=)	MFN2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign/Likely benign
Select item 199133	NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)	MFN2 (G298R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +8 more	GBenign/Likely benign
Select item 138217	NM_014874.4(MFN2):c.2113G>A (p.Val705Ile)	MFN2 (V705I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2A2 +7 more	GBenign/Likely benign
Select item 2269	NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)	MFN2 (W740S)	Single nucleotide variant (missense variant)	Hereditary motor and sensory neuropathy with optic atrophy +7 more	GPathogenic/Likely pathogenic
Select item 447092	NM_000085.5(CLCNKB):c.1511C>T (p.Ala504Val)	CLCNKB, LOC106501713 (A504V +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GUncertain significance
Select item 465257	NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr)	ATP13A2 (A746T +1 more)	Single nucleotide variant (missense variant)	Kufor-Rakeb syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1163729	NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)	ATP13A2 (R410W +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 261540	NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)	ATP13A2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 36770	NM_003000.3(SDHB):c.424-37TTC[10]	SDHB	Microsatellite (intron variant)	Gastrointestinal stromal tumor +7 more	GBenign/Likely benign
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +8 more	GBenign/Likely benign
Select item 185342	NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	SDHB (P56fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +7 more	GPathogenic
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GUncertain significance
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 1475616	NM_003748.4(ALDH4A1):c.739C>T (p.Arg247Cys)	ALDH4A1 (R247C +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 774792	NM_015047.3(EMC1):c.2886C>T (p.Tyr962=)	EMC1-AS1, EMC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 447941	NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr)	PINK1, PINK1-AS (S284Y)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +1 more	GUncertain significance
Select item 447942	NM_032409.3(PINK1):c.952A>T (p.Met318Leu)	PINK1, PINK1-AS (M318L)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GUncertain significance
Select item 286390	NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys)	PINK1, PINK1-AS (E476K)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive early-onset Parkinson disease 6 +2 more	GBenign
Select item 197679	NM_000478.6(ALPL):c.455G>A (p.Arg152His)	ALPL (R152H +2 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +6 more	GBenign/Likely benign
Select item 735085	NM_000478.6(ALPL):c.468C>T (p.Asp156=)	ALPL	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 1313062	NM_000478.6(ALPL):c.746G>C (p.Gly249Ala)	ALPL (G172A +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 918153	NM_000478.6(ALPL):c.935TGG[3] (p.Val315del)	ALPL (V238del +2 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 429390	NM_000478.6(ALPL):c.1349G>A (p.Arg450His)	ALPL (R450H +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 554421	NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr)	ALPL (A514T +2 more)	Single nucleotide variant (missense variant)	Adult hypophosphatasia +4 more	GUncertain significance
Select item 295725	NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)	HSPG2 (T3691I +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +3 more	GConflicting classifications of pathogenicity
Select item 198669	NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)	HSPG2 (V3500M +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +5 more	GBenign/Likely benign
Select item 295780	NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)	HSPG2 (R2682W +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 197547	NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys)	HSPG2 (R1919C +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 284377	NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val)	HSPG2 (A1883V +1 more)	Single nucleotide variant (missense variant)	Schwartz-Jampel syndrome +4 more	GConflicting classifications of pathogenicity
Select item 287524	NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg)	HSPG2 (P1534R +1 more)	Single nucleotide variant (missense variant)	Lethal Kniest-like syndrome +4 more	GConflicting classifications of pathogenicity
Select item 235713	NM_005529.7(HSPG2):c.2869A>C (p.Asn957His)	HSPG2 (N957H +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign
Select item 725131	NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=)	KDM1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 861930	NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)	GALE (P293L)	Single nucleotide variant (missense variant)	UDPglucose-4-epimerase deficiency +1 more	GUncertain significance
Select item 696641	NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=)	LDLRAP1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 684845	NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln)	LDLRAP1 (R151Q)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +3 more	GUncertain significance
Select item 241063	NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His)	LDLRAP1 (S202H)	Indel (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 296983	NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr)	LDLRAP1 (A208T)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +2 more	GConflicting classifications of pathogenicity
Select item 1677169	NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr)	LDLRAP1 (A284T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 296988	NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn)	LDLRAP1 (D303N)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 4 +3 more	GConflicting classifications of pathogenicity
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 261278	NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	SELENON (V549M +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +4 more	GBenign/Likely benign
Select item 281048	NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	SELENON (T572N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 812306	NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp)	DHDDS (R5W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 434319	NM_006015.6(ARID1A):c.1803+9T>C	ARID1A	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 434322	NM_006015.6(ARID1A):c.3408G>A (p.Ala1136=)	ARID1A, LOC126805670	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 434342	NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup)	ARID1A	Microsatellite (inframe_insertion)	not specified +2 more	GLikely benign
Select item 210262	NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=)	ARID1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 297114	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu)	PIGV (P34L)	Single nucleotide variant (missense variant +3 more)	Hyperphosphatasia with intellectual disability syndrome 1 +2 more	GBenign/Likely benign

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