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Links from MedGen

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCNN1A
Single nucleotide variant
(intron variant)
Liddle syndrome 3
+2 more
GPathogenic
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
GUncertain significance
SCNN1A
(E104Q +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
GUncertain significance
SCNN1A
(R476W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCNN1A
(R508Q +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
GUncertain significance
SCNN1A
Single nucleotide variant
(intron variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GBenign
SCNN1A
(I153F +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GUncertain significance
SCNN1A
(R192fs +2 more)
Deletion
(frameshift variant)
Liddle syndrome 3
+2 more
GPathogenic
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
(G454E +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCNN1A
(G601R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(A625V +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(intron variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
LTBR, SCNN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
(I282M +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GUncertain significance
SCNN1A
(S465F +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(splice donor variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GPathogenic/Likely pathogenic
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(S530L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GLikely benign
SCNN1A
(V573I +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GLikely benign
SCNN1A
(R591* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GConflicting classifications of pathogenicity
LTBR, SCNN1A
Single nucleotide variant
(5 prime UTR variant +2 more)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(N47fs +2 more)
Deletion
(frameshift variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GLikely pathogenic
SCNN1A
(Y484C +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
(A129T +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GUncertain significance
SCNN1A
(C479R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LTBR, SCNN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GBenign
SCNN1A, LTBR
Single nucleotide variant
(5 prime UTR variant +1 more)
Autosomal recessive pseudohypoaldosteronism type 1
+1 more
GBenign/Likely benign
LTBR, SCNN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
SCNN1A-related disorder
+3 more
GBenign
SCNN1A
(P37L)
Single nucleotide variant
(missense variant +1 more)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(K8E +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
SCNN1A-related disorder
+4 more
GBenign/Likely benign
SCNN1A
(K25R +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+5 more
GBenign
SCNN1A
(G107R +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(intron variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GBenign/Likely benign
SCNN1A
(R249K +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(G276C +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(intron variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(N315S +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GBenign/Likely benign
SCNN1A
(R350G +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
(E358G +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(D393N +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GUncertain significance
SCNN1A
(Q414R +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(S495L +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(intron variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
(G520A +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
SCNN1A
(R589Q +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GLikely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GUncertain significance
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GConflicting classifications of pathogenicity
SCNN1A
Single nucleotide variant
(3 prime UTR variant)
Bronchiectasis with or without elevated sweat chloride 2
+1 more
GBenign/Likely benign
SCNN1A
(L406I +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+4 more
GConflicting classifications of pathogenicity
SCNN1A
(R333C +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GUncertain significance
SCNN1A
(R204W +2 more)
Indel
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+4 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GBenign/Likely benign
SCNN1A
(R181W +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+4 more
GBenign/Likely benign
SCNN1A
(C618F +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SCNN1A
(A334T +2 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SCNN1A
(T663A +2 more)
Single nucleotide variant
(missense variant)
Liddle syndrome 3
+4 more
GBenign
SCNN1A
(R81C +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
GPathogenic
SCNN1A
(W493R +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
SCNN1A
(V114I +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SCNN1A
(R508* +2 more)
Single nucleotide variant
(nonsense)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GPathogenic/Likely pathogenic
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