C1848029[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261120	NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)	LOC106780803, TNXB (N4055I +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign
Select item 261111	NM_001365276.2(TNXB):c.11531-25T>C	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 261106	NM_001365276.2(TNXB):c.11387-45T>C	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 261162	NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)	TNXB (G2518E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 261159	NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign
Select item 261156	NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 261152	NM_001365276.2(TNXB):c.6842-24C>T	TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign
Select item 261150	NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=)	TNXB	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 261136	NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg)	TNXB (H1161R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign

ClinVar