ClinVar for MedGen (Select 1824029) - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 8827	NM_001039.4(SCNN1G):c.1627del (p.Val543fs)	SCNN1G (V543fs)	Deletion (frameshift variant)	Pseudohypoaldosteronism, type IB3, autosomal recessive	GPathogenic
Select item 8826	NM_001039.4(SCNN1G):c.318-1G>A	SCNN1G	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism, type IB3, autosomal recessive	GPathogenic
Select item 8825	NM_001039.4(SCNN1G):c.1570-1G>A	SCNN1G	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism, type IB3, autosomal recessive	GPathogenic

Format

Sort by

Choose Destination

ClinVar