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 446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130063041, LOC130063042
+687 more
Copy number gain
See cases
GPathogenic
LOC130062978, LOC130062979
+903 more
Copy number gain
See cases
GPathogenic
ABHD17A, ADAT3
+387 more
Copy number loss
See cases
GPathogenic
ABHD17A, ADAT3
+362 more
Copy number gain
See cases
GPathogenic
LOC130063254, LOC130063255
+810 more
Copy number gain
See cases
GPathogenic
APBA3, ATCAY
+121 more
Copy number loss
See cases
GPathogenic
ANKRD24, APBA3
+223 more
Copy number gain
See cases
GLikely pathogenic
LOC121852974, LOC125371451
+193 more
Copy number loss
See cases
GPathogenic
APBA3, ATCAY
+71 more
Copy number loss
See cases
GPathogenic
PIP5K1C, PLIN4
+142 more
Copy number loss
See cases
GPathogenic
ANKRD24, ARRDC5
+150 more
Copy number loss
See cases
GLikely pathogenic
ANKRD24, ARRDC5
+145 more
Copy number gain
See cases
GUncertain significance
EEF2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
EEF2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
EEF2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
EEF2
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
EEF2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
EEF2
(R841C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
EEF2
(A836V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
EEF2
(S828N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EEF2
(N827D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EEF2
(F825L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
EEF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
EEF2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
EEF2
(W817G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
(F814C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
(Q811R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EEF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EEF2
(A808V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
EEF2
(T797I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GBenign
EEF2
Single nucleotide variant
(intron variant)
not provided
GBenign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2
(M781K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EEF2
(E772K)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 26
GLikely pathogenic
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
EEF2
(V762A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2
(Y760C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GBenign
EEF2
Single nucleotide variant
(intron variant)
not provided
GBenign
EEF2, LOC130063169
Single nucleotide variant
(intron variant)
not provided
GBenign
EEF2, LOC130063169
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
EEF2, LOC130063169
(I749V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 26
+1 more
GConflicting classifications of pathogenicity
EEF2, LOC130063169
(V747M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2, LOC130063169
(T735I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
(A731T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 26
+1 more
GBenign
EEF2, LOC130063169
(L729F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
(R726W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not specified
GBenign
EEF2, LOC130063169
(R716C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not specified
GBenign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
GBenign
EEF2, LOC130063169
(H705Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EEF2, LOC130063169
(V704I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
EEF2, LOC130063169
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2, LOC130063169
(G699S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
EEF2, LOC130063169
(M697T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
EEF2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
EEF2
(T687S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
EEF2
(N673S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
(D664E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
EEF2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
EEF2
(N660S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination