"MAPRE2-related disorder"[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 2630049	NM_001143827.3(MAPRE2):c.86+1G>A	MAPRE2	Single nucleotide variant (splice donor variant)	MAPRE2-related disorder	GUncertain significance
Select item 3042970	NM_014268.4(MAPRE2):c.156G>A (p.Ser52=)	MAPRE2	Single nucleotide variant (synonymous variant +2 more)	MAPRE2-related disorder	GLikely benign
Select item 782613	NM_014268.4(MAPRE2):c.387C>T (p.Asn129=)	MAPRE2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign

Format

Sort by

Choose Destination