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Links from MedGen

Items: 91

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLDN19
(G179R)
Single nucleotide variant
(missense variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
GLikely pathogenic
CLDN19
(C54*)
Single nucleotide variant
(nonsense)
Renal hypomagnesemia 5 with ocular involvement
GLikely pathogenic
CLDN19
(G17fs)
Duplication
(frameshift variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(intron variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(Q61*)
Single nucleotide variant
(nonsense)
Renal hypomagnesemia 5 with ocular involvement
GPathogenic
CLDN19
Single nucleotide variant
(splice acceptor variant)
Renal hypomagnesemia 5 with ocular involvement
GPathogenic
CLDN19
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CLDN19
(T105M)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GUncertain significance
CLDN19
(A218T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GUncertain significance
CLDN19
(S69L)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
+2 more
GUncertain significance
CLDN19
(G220C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CLDN19
(L143fs)
Deletion
(frameshift variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GPathogenic
CLDN19
(P28L)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GLikely pathogenic
CLDN19
(R208*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GUncertain significance
CLDN19
(I77V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLDN19
(R117C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLDN19
(L177R +1 more)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GLikely pathogenic
CLDN19
(V176M)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CLDN16
(A23T)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GLikely pathogenic
CLDN19
(Y47C)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(R117H)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(E147K)
Single nucleotide variant
(missense variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(S138L)
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN19
(P187L +1 more)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(5 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(A216T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
CLDN19
(G130C)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GPathogenic
CLDN19
(G179S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CLDN19
(Q57*)
Single nucleotide variant
(nonsense)
Renal hypomagnesemia 5 with ocular involvement
GPathogenic
CLDN19
(L90R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CLDN19
Single nucleotide variant
(5 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(5 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(L13F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CLDN19
(I22T)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GUncertain significance
CLDN19
Single nucleotide variant
(synonymous variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(P112L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLDN19
(I113V)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
(R159Q)
Single nucleotide variant
(synonymous variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GBenign
CLDN19
(R200Q +1 more)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GBenign
CLDN19
(R186C)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GBenign/Likely benign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GLikely benign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GUncertain significance
CLDN19
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CLDN19
Single nucleotide variant
(3 prime UTR variant)
Renal hypomagnesemia 5 with ocular involvement
GBenign
CLDN19
(V224E)
Single nucleotide variant
(3 prime UTR variant +1 more)
Renal hypomagnesemia 5 with ocular involvement
+1 more
GUncertain significance
CLDN19
(L90P)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GPathogenic
CLDN19
(Q57E)
Single nucleotide variant
(missense variant)
Renal hypomagnesemia 5 with ocular involvement
GPathogenic
CLDN19
(G20D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
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