"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC106780803"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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