U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 445

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
LOC130064626, LOC130064627
+215 more
Duplication
Schizophrenia
GLikely pathogenic
CD177, ETHE1
+18 more
Copy number gain
See cases
GUncertain significance
CD177, ETHE1
+14 more
Copy number gain
See cases
GLikely benign
PHLDB3, PINLYP
+55 more
Copy number gain
See cases
GUncertain significance
ETHE1
Single nucleotide variant
(3 prime UTR variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(3 prime UTR variant)
Ethylmalonic encephalopathy
GBenign
ETHE1
Single nucleotide variant
(3 prime UTR variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(3 prime UTR variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Deletion
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(A131V +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(A131T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(T253A +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(G248R +3 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(R148H +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ETHE1
(M122R +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(P119L +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(F116fs +3 more)
Deletion
(frameshift variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
not provided
GBenign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GBenign
ETHE1
Deletion
(intron variant)
not provided
GBenign
ETHE1
Single nucleotide variant
(intron variant)
not provided
GBenign
ETHE1
Single nucleotide variant
(intron variant)
not provided
GBenign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GBenign
ETHE1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(Q138H +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(Q138* +3 more)
Single nucleotide variant
(nonsense)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(Q112* +3 more)
Single nucleotide variant
(nonsense)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(Q112fs +3 more)
Deletion
(frameshift variant)
Ethylmalonic encephalopathy
GPathogenic/Likely pathogenic
ETHE1
(P221L +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
+1 more
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Deletion
(frameshift variant)
Ethylmalonic encephalopathy
GPathogenic
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(L117R +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(P202S +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(E110K +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
ETHE1
(E197* +3 more)
Single nucleotide variant
(nonsense)
Ethylmalonic encephalopathy
GPathogenic
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(S203F +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(V104G +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ETHE1
(V79fs +3 more)
Duplication
(frameshift variant)
Ethylmalonic encephalopathy
GPathogenic
ETHE1
(T103fs +3 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(splice acceptor variant)
Ethylmalonic encephalopathy
GPathogenic/Likely pathogenic
ETHE1
Single nucleotide variant
(splice acceptor variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(splice acceptor variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
+1 more
GConflicting classifications of pathogenicity
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Duplication
(intron variant)
not provided
GBenign
ETHE1
Duplication
(intron variant)
not provided
GBenign
ETHE1
Duplication
(intron variant)
not provided
GBenign
ETHE1
Duplication
(intron variant)
not provided
GBenign
ETHE1
Deletion
(intron variant)
not provided
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
+1 more
GBenign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Duplication
(splice donor variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(intron variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
Single nucleotide variant
(splice donor variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(splice donor variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
(H100fs +3 more)
Duplication
(frameshift variant)
Ethylmalonic encephalopathy
GLikely pathogenic
ETHE1
Single nucleotide variant
(synonymous variant)
Ethylmalonic encephalopathy
GLikely benign
ETHE1
(D73V +3 more)
Single nucleotide variant
(missense variant)
Ethylmalonic encephalopathy
GUncertain significance
Format
Items per page
Sort by
Choose Destination