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Links from MedGen

Items: 1 to 100 of 149

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(R290W)
Single nucleotide variant
(missense variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(W245*)
Single nucleotide variant
(nonsense +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(H300R)
Single nucleotide variant
(missense variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(splice donor variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely pathogenic
CA5A
(M28K)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Duplication
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely pathogenic
CA5A
Deletion
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(V172M)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(I95V)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(D108N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(stop lost +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(N175D)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
CA5A
(D216A)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(R263C)
Single nucleotide variant
(missense variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(P237L)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(F215I)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(G60R)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(P201T)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(R26H)
Single nucleotide variant
(missense variant +1 more)
CA5A-related condition
+1 more
GUncertain significance
CA5A
(M212I)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
CA5A-related condition
+1 more
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(P222S)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(N166S)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GConflicting classifications of pathogenicity
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GBenign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(non-coding transcript variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(T62I)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(W228*)
Single nucleotide variant
(nonsense +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GPathogenic
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(F129L)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(P50Q)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(Q258H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(R63W)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(A170S)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(A261V)
Single nucleotide variant
(missense variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(A135V)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Deletion
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely pathogenic
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(R263H)
Single nucleotide variant
(missense variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GConflicting classifications of pathogenicity
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GBenign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(non-coding transcript variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(V85F)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(L186V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(S13F)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(V145M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CA5A
(V172L)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GConflicting classifications of pathogenicity
CA5A
(V182M)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(L126V)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(Q248H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(A208V)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(P55L)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Deletion
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GPathogenic
CA5A
(W41C)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(R209Q)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(H205Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CA5A
(E138K)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(T223N)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(A149T)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(P283E)
Indel
(missense variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(A149V)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(A255T)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(Y100N)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(Q79E)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(P30R)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(W96S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
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