ClinVar for MedGen (Select 1785484) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431559	NM_001102416.3(KNG1):c.166T>G (p.Leu56Val)	KNG1 (L56V)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 6	GUncertain significance
Select item 1162307	NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala)	KNG1 (P574A)	Single nucleotide variant (missense variant +1 more)	Angioedema, hereditary, 6	GPathogenic
Select item 1162306	NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys)	KNG1 (M379K +1 more)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 6	GPathogenic

Format

Sort by

Choose Destination