C4014831[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235972	NM_001365276.2(TNXB):c.*163G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GBenign
Select item 1193708	NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr)	LOC106780803, TNXB (A4196T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1210015	NM_001365276.2(TNXB):c.12210+5G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8 +2 more	GConflicting classifications of pathogenicity
Select item 261119	NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GLikely benign
Select item 1179372	NM_001365276.2(TNXB):c.12058+15G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GLikely benign
Select item 1676014	NM_001365276.2(TNXB):c.12058+6T>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8 +2 more	GLikely benign
Select item 261107	NM_001365276.2(TNXB):c.11387-9T>C	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 261098	NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 261096	NM_001365276.2(TNXB):c.10607-19C>A	LOC106780803, TNXB	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GLikely benign
Select item 1205063	NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign/Likely benign
Select item 1204062	NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn)	TNXB (D3192N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1214713	NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg)	TNXB (P3151R +1 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +3 more	GUncertain significance
Select item 871702	NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)	TNXB (A3069V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1188741	NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His)	TNXB (Q2875H +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 425370	NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg)	TNXB (G2846R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1211759	NM_001365276.2(TNXB):c.8468-1G>A	TNXB	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 598089	NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)	TNXB (E2729G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1197303	NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)	TNXB (P2601L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1304283	NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys)	TNXB (E2595K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GUncertain significance
Select item 1188758	NM_001365276.2(TNXB):c.7704T>C (p.Val2568=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 430489	NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys)	TNXB (R2473C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign/Likely benign
Select item 1189567	NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign/Likely benign
Select item 261157	NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)	TNXB (V2433I)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1207409	NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg)	TNXB (G2351R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1326711	NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val)	TNXB (G2278V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1220472	NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1217755	NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg)	TNXB (G2071R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1178595	NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign/Likely benign
Select item 1226831	NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu)	TNXB (D1814E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1258568	NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile)	TNXB (T1495I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign/Likely benign
Select item 809904	NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1207037	NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His)	TNXB (R1337H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1216708	NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg)	TNXB (P1254R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GUncertain significance
Select item 1215208	NM_001365276.2(TNXB):c.3226G>A (p.Asp1076Asn)	TNXB (D1076N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1050758	NM_001365276.2(TNXB):c.3034G>A (p.Val1012Ile)	TNXB (V1012I)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1213388	NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr)	TNXB (S928Y)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +4 more	GUncertain significance
Select item 1251697	NM_001365276.2(TNXB):c.2516-17_2516-15del	TNXB	Microsatellite (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GBenign
Select item 1211473	NM_001365276.2(TNXB):c.2385A>G (p.Thr795=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 261130	NM_001365276.2(TNXB):c.2373C>T (p.Ser791=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 634508	NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)	TNXB (R724C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1191032	NM_001365276.2(TNXB):c.2083C>T (p.Arg695Trp)	TNXB (R695W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1206426	NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp)	TNXB (G499D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GConflicting classifications of pathogenicity
Select item 261124	NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln)	TNXB (R490Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GBenign
Select item 261175	NM_001365276.2(TNXB):c.909C>G (p.Gly303=)	TNXB	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 289817	NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)	TNXB (V71L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1320648	NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg)	TNXB (Q70R)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +4 more	GUncertain significance
Select item 1215804	NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln)	TNXB (R38Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 1201535	NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln)	TNXB (R29Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign

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Items: 48