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Links from Gene

Items: 1 to 100 of 402

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL21R, IL21R-AS1
(A294T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GLikely benign
IL21R
(S170N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL21R
(Q101H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
IL21R, IL21R-AS1
+1 more
(W523G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
(D383N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
C16orf82, GTF3C1
+5 more
Copy number gain
not specified
GUncertain significance
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
IL21R-related disorder
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
(Q536R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(S227L +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(P281fs +1 more)
Deletion
(frameshift variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
+1 more
(P510S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Deletion
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
(P349L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
(S285R +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
(L442R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
+1 more
(D344H +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(P21L +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R-AS1, IL21R
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
(T389I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
IL21R
(D28N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IL21R, IL21R-AS1
(S358A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
IL21R-related disorder
GUncertain significance
IL21R, IL21R-AS1
+1 more
(D498E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
(E409K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
NPIPB5, PALB2
+64 more
Copy number loss
Chromosome 16p12.2-p11.2 deletion syndrome
GPathogenic
IL21R
(D91N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
(D368N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IL21R
(C306Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
+1 more
(G471E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
APOBR, ATP2A1
+18 more
Deletion
not provided
GUncertain significance
APOBR, ATP2A1
+23 more
Deletion
Neuronal ceroid lipofuscinosis
GPathogenic
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
(G386R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IL21R
(L263R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL21R
(P206H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
+1 more
(D488N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
+1 more
(E526A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
IL21R, IL21R-AS1
(F351S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
IL21R
(V126M +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
(V338A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
(S553L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Deletion
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(P167T +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(L186P +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(V24I +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(G26S +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
+1 more
(R328K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
(P279T +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
(L185F +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R, IL21R-AS1
+1 more
(L329V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
(L285I +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(N41D +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
(S324G +1 more)
Single nucleotide variant
(missense variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
(L10fs +1 more)
Duplication
(frameshift variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GPathogenic
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(T70N +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
(S466G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
(P120L +1 more)
Single nucleotide variant
(missense variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R, IL21R-AS1
(G359V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GUncertain significance
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
(Y156* +1 more)
Single nucleotide variant
(nonsense)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GPathogenic
IL21R, IL21R-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(synonymous variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
IL21R
Single nucleotide variant
(intron variant)
Cryptosporidiosis-chronic cholangitis-liver disease syndrome
GLikely benign
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