C5562040[trait identifier] AND "Revvity Omics, Revvity"[submitter] - 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 2690248	NM_003285.3(TNR):c.2858T>C (p.Met953Thr)	TNR (M620T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GUncertain significance
Select item 2690249	NM_003285.3(TNR):c.782G>A (p.Cys261Tyr)	TNR (C261Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus	GUncertain significance