ClinVar for MedGen (Select 1824028) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338256	NM_000336.3(SCNN1B):c.1404+1G>T	SCNN1B	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664489	NM_000336.3(SCNN1B):c.1346+1G>A	SCNN1B	Single nucleotide variant (splice donor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664488	NM_000336.3(SCNN1B):c.87C>A (p.Tyr29Ter)	SCNN1B (Y29*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2664487	NM_000336.3(SCNN1B):c.1271-1G>C	SCNN1B	Single nucleotide variant (splice acceptor variant)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 2577438	NM_000336.3(SCNN1B):c.84G>A (p.Trp28Ter)	SCNN1B (W28*)	Single nucleotide variant (nonsense)	Pseudohypoaldosteronism, type IB2, autosomal recessive	GPathogenic
Select item 1256466	NM_000336.3(SCNN1B):c.1152+10T>C	SCNN1B	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 870735	NM_000336.3(SCNN1B):c.1542+1G>A	SCNN1B	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 8832	NM_000336.3(SCNN1B):c.109G>A (p.Gly37Ser)	SCNN1B (G37S)	Single nucleotide variant (missense variant)	Liddle syndrome 1 +2 more	GConflicting classifications of pathogenicity

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