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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GLikely benign
SCNN1A
(R508* +2 more)
Single nucleotide variant
(nonsense)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GPathogenic/Likely pathogenic
SCNN1A
Single nucleotide variant
(splice donor variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GPathogenic/Likely pathogenic
SCNN1A
(C479R +2 more)
Single nucleotide variant
(missense variant)
Liddle syndrome 3
+3 more
GConflicting classifications of pathogenicity
SCNN1A
(R476W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
SCNN1A
(G454E +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GUncertain significance
SCNN1A
(D393N +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GLikely benign
SCNN1A
(R333C +2 more)
Single nucleotide variant
(missense variant)
Liddle syndrome 3
+3 more
GUncertain significance
SCNN1A
(I282M +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GUncertain significance
SCNN1A
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GBenign/Likely benign
SCNN1A
(R192fs +2 more)
Deletion
(frameshift variant)
Liddle syndrome 3
+2 more
GPathogenic
SCNN1A
(R204W +2 more)
Indel
(missense variant)
not specified
+4 more
GBenign/Likely benign
SCNN1A
(R181W +2 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+4 more
GBenign/Likely benign
SCNN1A
(I153F +2 more)
Single nucleotide variant
(missense variant)
Liddle syndrome 3
+2 more
GUncertain significance
SCNN1A
(A129T +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GUncertain significance
SCNN1A
(G107R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
SCNN1A
(N47fs +2 more)
Deletion
(frameshift variant)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GLikely pathogenic
SCNN1A
Single nucleotide variant
(synonymous variant +1 more)
Bronchiectasis with or without elevated sweat chloride 2
+2 more
GUncertain significance
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