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Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
LOC126862439, LOC126862440
+1031 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+832 more
Copy number gain
See cases
GPathogenic
LOC130059708, LOC130059709
+788 more
Copy number gain
See cases
GPathogenic
LINC01081, LINC01082
+781 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+719 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+691 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+677 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+210 more
Copy number loss
See cases
GPathogenic
LOC121587566, LOC121587567
+218 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+196 more
Copy number loss
See cases
GPathogenic
BANP, CA5A
+35 more
Copy number gain
See cases
GUncertain significance
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
CA5A
(H300R)
Single nucleotide variant
(missense variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(3 prime UTR variant +2 more)
CA5A-related condition
GLikely benign
CA5A
Single nucleotide variant
(stop lost +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
Single nucleotide variant
(non-coding transcript variant +2 more)
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
GBenign
CA5A
(A294V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CA5A
(R290W)
Single nucleotide variant
(missense variant +2 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
(synonymous variant +2 more)
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
(P283E)
Indel
(missense variant +2 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
(R282C)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CA5A
Single nucleotide variant
(synonymous variant +2 more)
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
+1 more
GBenign
CA5A
(F267L)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
CA5A
(R263H)
Single nucleotide variant
(missense variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GConflicting classifications of pathogenicity
CA5A
(R263C)
Single nucleotide variant
(missense variant +2 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
Single nucleotide variant
(non-coding transcript variant +2 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(L259V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Deletion
(splice acceptor variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GPathogenic
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
Deletion
(splice donor variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+2 more
GConflicting classifications of pathogenicity
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(Q258H)
Single nucleotide variant
(non-coding transcript 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
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(E250G)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+2 more
GLikely benign
CA5A
(Q248H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
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
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(S242L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CA5A
(E241K)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GPathogenic/Likely pathogenic
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
+1 more
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(P237R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CA5A
(P237L)
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
(S233P)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GConflicting classifications of pathogenicity
CA5A
(A231T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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
(W228*)
Single nucleotide variant
(nonsense +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GPathogenic
CA5A
(D226N)
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
(P222S)
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)
not provided
GLikely benign
CA5A
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CA5A
(T219A)
Single nucleotide variant
(missense variant +1 more)
CA5A-related condition
+1 more
GLikely benign
CA5A
(D216A)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
CA5A
(D216N)
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)
not specified
+2 more
GBenign
CA5A
(F215I)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
(P214A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CA5A
(R213H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely benign
CA5A
(A210V)
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
Single nucleotide variant
(synonymous variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GLikely benign
CA5A
(A208V)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GUncertain significance
CA5A
Single nucleotide variant
(intron variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
+1 more
GLikely benign
CA5A
Single nucleotide variant
(intron variant)
not provided
GBenign
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
(intron variant)
CA5A-related condition
GLikely benign
CA5A
Single nucleotide variant
(splice donor variant)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GLikely pathogenic
CA5A
(K206E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CA5A
(H205Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CA5A
(H205D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CA5A
Single nucleotide variant
(synonymous 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
(I199F)
Single nucleotide variant
(missense variant +1 more)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
GUncertain significance
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