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Items: 1 to 100 of 137

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LTBR, SCNN1A
Single nucleotide variant
(5 prime UTR variant +2 more)
Liddle syndrome 3
+2 more
GUncertain significance
SCNN1A
(N63K +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(Q9R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(E57K +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P41L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(T101A +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(T101M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Deletion
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(T107M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(V148L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(G107R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(I166M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R211C +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R152H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(T216R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(K186N +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(Y187H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S166Y +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(F226L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(T192fs +2 more)
Deletion
(frameshift variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GPathogenic
SCNN1A
(V171M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P187A +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(L188F +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R213L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R215K +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R202G +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S205R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(L233W +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(N273T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(V217M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(D218E +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(K279E +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(F285L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Insertion
(intron variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(splice acceptor variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GLikely pathogenic
SCNN1A
(V245L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(H314Y +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(Y256C +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(A292E +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(A315V +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P300L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S314T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(G386C +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GLikely pathogenic
SCNN1A
Single nucleotide variant
(splice donor variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GLikely pathogenic
SCNN1A
Indel
(intron variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(F339L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R373W +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(M375I +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P359T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P359S +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(L392F +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(V432M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S437G +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(D390V +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(D459H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S419F +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(F494L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P437L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GLikely benign
SCNN1A
(V481M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R515* +2 more)
Single nucleotide variant
(nonsense)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GPathogenic
SCNN1A
(R492L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(W493G +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
Single nucleotide variant
(intron variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(E530D +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(K557R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S541F +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S553G +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S565T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(M628T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(M569I +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(I638V +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(I602T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R597* +2 more)
Single nucleotide variant
(nonsense)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(R620Q +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P637fs +2 more)
Deletion
(frameshift variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P619H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P701A +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(P672L +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(S675C +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(G654R +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(A680V +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(T686V +2 more)
Inversion
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(G690E +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(K163T +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GUncertain significance
SCNN1A
(T543M +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GUncertain significance
SCNN1A
(R85H +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GUncertain significance
SCNN1A
(R370Q +2 more)
Single nucleotide variant
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GConflicting classifications of pathogenicity
SCNN1A
(K449Q +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)
Liddle syndrome 3
+2 more
GPathogenic
SCNN1A
Indel
(missense variant)
Bronchiectasis with or without elevated sweat chloride 2
+3 more
GUncertain significance
SCNN1A
Single nucleotide variant
(synonymous variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+2 more
GUncertain significance
SCNN1A
(D390N +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
SCNN1A
(Y163D +2 more)
Single nucleotide variant
(missense variant)
Pseudohypoaldosteronism, type IB1, autosomal recessive
+3 more
GUncertain significance
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