"TSR1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - 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 3042039	NM_018128.5(TSR1):c.2333C>T (p.Thr778Ile)	SRR, TSR1 (T778I)	Single nucleotide variant (missense variant +1 more)	TSR1-related disorder	GLikely benign
Select item 3049475	NM_018128.5(TSR1):c.1654G>A (p.Ala552Thr)	TSR1 (A552T)	Single nucleotide variant (missense variant)	TSR1-related disorder	GLikely benign
Select item 3037933	NM_018128.5(TSR1):c.803TGG[1] (p.Val269del)	TSR1 (V269del)	Microsatellite (inframe deletion)	TSR1-related disorder	GLikely benign

Format

Sort by

Choose Destination