ClinVar for MedGen (Select 1794204) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2573171	NM_001128.6(AP1G1):c.1497+1G>A	AP1G1	Single nucleotide variant (splice donor variant)	Usmani-Riazuddin syndrome, autosomal recessive	GPathogenic
Select item 1299371	NM_001128.6(AP1G1):c.1096A>G (p.Met366Val)	AP1G1 (M369V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299370	NM_001128.6(AP1G1):c.728C>A (p.Pro243His)	AP1G1 (P246H +1 more)	Single nucleotide variant (missense variant)	Usmani-Riazuddin syndrome, autosomal recessive	GPathogenic

Format

Sort by

Choose Destination

ClinVar