C1848029[trait identifier] AND "Prenatal Diagnosis Center, Inner Mongo - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1711187	NM_001365276.2(TNXB):c.4111G>A (p.Glu1371Lys)	TNXB (E1371K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1711188	NM_001365276.2(TNXB):c.31A>T (p.Ser11Cys)	TNXB (S11C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency	GLikely pathogenic