"Johns Hopkins Genomics, Johns Hopkins University"[submitter] AND "SCN - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443054	NM_001039.4(SCNN1G):c.201C>G (p.Ile67Met)	SCNN1G (I67M)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 1331727	NM_001039.4(SCNN1G):c.564C>A (p.His188Gln)	SCNN1G (H188Q)	Single nucleotide variant (missense variant)	Bronchiectasis with or without elevated sweat chloride 3	GUncertain significance
Select item 2443065	NM_001039.4(SCNN1G):c.637G>A (p.Asp213Asn)	SCNN1G (D213N)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +1 more	GUncertain significance
Select item 816650	NM_001039.4(SCNN1G):c.1177-7C>T	SCNN1G	Single nucleotide variant (intron variant)	Autosomal recessive pseudohypoaldosteronism type 1	GUncertain significance
Select item 1185021	NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	SCNN1G (L511Q)	Single nucleotide variant (missense variant)	Autosomal recessive pseudohypoaldosteronism type 1 +3 more	GUncertain significance
Select item 318359	NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	SCNN1G (N530S)	Single nucleotide variant (missense variant)	Liddle syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 1065571	NM_001039.4(SCNN1G):c.1654G>A (p.Val552Ile)	SCNN1G (V552I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar