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Links from MedGen

Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS26
Indel
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Duplication
(intron variant)
RPS26-related disorder
+1 more
GLikely benign
RPS26
Deletion
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(C26Y)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(R22H)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(K32T)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(K3N)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Deletion
(splice acceptor variant)
Diamond-Blackfan anemia 10
GLikely pathogenic
RPS26
(M1K)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 10
GLikely pathogenic
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Deletion
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(T24A)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(M115T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RPS26
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 10
GLikely pathogenic
RPS26, IKZF4
+1 more
Deletion
Diamond-Blackfan anemia 10
GPathogenic
RPS26
(R92C)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(P111L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(A106G)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(A27fs)
Microsatellite
(frameshift variant)
Diamond-Blackfan anemia 10
GPathogenic
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(P110S)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 10
+1 more
GPathogenic/Likely pathogenic
RPS26
(S57N)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+1 more
GConflicting classifications of pathogenicity
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
+1 more
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Deletion
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Duplication
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(R22G)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(N25fs)
Deletion
(frameshift variant)
Diamond-Blackfan anemia
+1 more
GPathogenic/Likely pathogenic
RPS26
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
RPS26
(I21L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 10
GLikely pathogenic
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
(K4fs)
Deletion
(frameshift variant)
Diamond-Blackfan anemia
+1 more
GPathogenic
RPS26
(I53V)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(R89H)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Deletion
(intron variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(K66*)
Single nucleotide variant
(nonsense)
Diamond-Blackfan anemia 10
GPathogenic
RPS26
(M1R)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 10
GPathogenic
RPS26
Deletion
(splice donor variant)
Diamond-Blackfan anemia 10
GPathogenic
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
+1 more
GLikely benign
RPS26
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GBenign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
RPS26-related disorder
+1 more
GLikely benign
RPS26
(R89P)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
(V75fs)
Microsatellite
(frameshift variant)
Diamond-Blackfan anemia 10
GPathogenic/Likely pathogenic
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
+2 more
GBenign
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 10
+2 more
GConflicting classifications of pathogenicity
RPS26
Single nucleotide variant
(5 prime UTR variant)
not specified
+3 more
GBenign/Likely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
+1 more
GBenign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
+1 more
GBenign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GLikely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
+1 more
GBenign/Likely benign
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GUncertain significance
RPS26
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 10
GUncertain significance
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