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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCNN1G
(I67M)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 3
GUncertain significance
SCNN1G
(H188Q)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 3
GUncertain significance
SCNN1G
(R157Q)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 3
+3 more
GUncertain significance
SCNN1G
Single nucleotide variant
(intron variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GBenign
SCNN1G
Single nucleotide variant
(intron variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GBenign
SCNN1G
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
SCNN1G
(L511Q)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GUncertain significance
SCNN1G
(S467N)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 3
GUncertain significance
SCNN1G
(V552I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SCNN1G
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 3
GUncertain significance
SCNN1G
(R48fs)
Duplication
(frameshift variant)
Autosomal recessive pseudohypoaldosteronism type 1
+2 more
GLikely pathogenic
SCNN1G
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GLikely benign
SCNN1G
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
SCNN1G
Single nucleotide variant
(synonymous variant)
Bronchiectasis with or without elevated sweat chloride 3
+3 more
GLikely benign
SCNN1G
(M517T)
Single nucleotide variant
(missense variant)
Autosomal recessive pseudohypoaldosteronism type 1
+3 more
GConflicting classifications of pathogenicity
SCNN1G
(N530S)
Single nucleotide variant
(missense variant)
Liddle syndrome 2
+3 more
GConflicting classifications of pathogenicity
SCNN1G
(H396R)
Single nucleotide variant
(missense variant)
Liddle syndrome 2
+2 more
GUncertain significance
SCNN1G
(R180Q)
Single nucleotide variant
(missense variant)
Liddle syndrome 2
+3 more
GUncertain significance
SCNN1G
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SCNN1G
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
SCNN1G
Single nucleotide variant
(synonymous variant)
Autosomal recessive pseudohypoaldosteronism type 1
+4 more
GBenign
SCNN1G
Single nucleotide variant
(intron variant)
Liddle syndrome 2
+4 more
GBenign
SCNN1G
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
SCNN1G
(E197K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
SCNN1G
(G183S)
Single nucleotide variant
(missense variant)
SCNN1G-related disorder
+4 more
GBenign/Likely benign
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