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Items: 1 to 100 of 114

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993082, LOC129993083
+661 more
Copy number gain
See cases
GPathogenic
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
ABHD18, ADAD1
+254 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
IL21
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
IL21
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
IL21
Single nucleotide variant
(3 prime UTR variant)
IL21-related disorder
GBenign
IL21
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
IL21
(S162C)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
IL21
(S159R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
IL21
(G158R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
IL21
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
IL21
(H157L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
IL21
(H151Y)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
IL21
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
IL21
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
IL21
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
IL21
Deletion
(stop lost +2 more)
not provided
GUncertain significance
IL21
(F152I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
IL21
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
IL21
(K146N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(S142L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(E135D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(P132T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(P132S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21
Deletion
(intron variant)
not provided
GLikely benign
IL21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21
Single nucleotide variant
(intron variant)
not provided
GBenign
IL21
Duplication
(intron variant)
not provided
GBenign
IL21
Deletion
(intron variant)
not provided
GBenign
IL21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
IL21
(L120I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL21
(G113R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IL21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL21
(A112V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL21
(N111K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL21
(P108S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(P107T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IL21
(P107S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(P107A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(K106R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(K104R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(I100V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(V98A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL21
(R94S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(E93K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(N91K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
(T89I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
Single nucleotide variant
(synonymous variant)
IL21-related infantile inflammatory bowel disease
+2 more
GBenign
IL21
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IL21
(T69K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
(E59Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126807147, IL21
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126807147, IL21
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126807147, IL21-AS1
+1 more
(L49P)
Single nucleotide variant
(missense variant)
IL21-related infantile inflammatory bowel disease
GPathogenic
IL21, IL21-AS1
+1 more
(I45T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
IL21, IL21-AS1
+1 more
(D44N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(I43T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(I43L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
IL21, IL21-AS1
+1 more
(R40H)
Single nucleotide variant
(non-coding transcript variant +1 more)
IL21-related infantile inflammatory bowel disease
+1 more
GUncertain significance
IL21, IL21-AS1
+1 more
(R40C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(R40G)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(M39I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(R34C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(G31D)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(S28N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
IL21, IL21-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
(I18T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(I18V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(M16T)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GUncertain significance
IL21, IL21-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
IL21, IL21-AS1
+1 more
(I13V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(G6R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21, IL21-AS1
+1 more
(M1T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
AFG2A, ANXA5
+17 more
Deletion
not provided
GUncertain significance
ADAD1, AFG2A
+5 more
Copy number gain
not specified
GUncertain significance
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
AADAT, AASDH
+537 more
Copy number gain
not provided
GPathogenic
SPOCK3, SPRY1
+153 more
Copy number gain
not provided
GPathogenic
AFG2A, ANXA5
+17 more
Duplication
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
GUncertain significance
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