"MVZ Medizinische Genetik Mainz"[submitter] AND "TNXB"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236790	NM_001365276.2(TNXB):c.6221-2_6221-1delinsCA	TNXB	Indel (splice acceptor variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GLikely pathogenic
Select item 3066379	NM_001365276.2(TNXB):c.4681+5G>A	TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8	GUncertain significance