"TMEM114-related condition"[Disease/phenotype] AND "PreventionGenetics - 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 3036348	NM_001146336.2(TMEM114):c.186G>C (p.Leu62=)	TMEM114	Single nucleotide variant (synonymous variant +2 more)	TMEM114-related condition	GLikely benign
Select item 3054083	NM_001146336.2(TMEM114):c.90C>T (p.Asp30=)	TMEM114	Single nucleotide variant (synonymous variant +2 more)	TMEM114-related condition	GLikely benign