Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPL11
(N10Y +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
(T46A +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
(E80del +1 more)
Microsatellite
(inframe_deletion)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
(R31fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 7
GPathogenic
RPL11
Microsatellite
(intron variant)
Diamond-Blackfan anemia
+1 more
GConflicting classifications of pathogenicity
RPL11
Microsatellite
(nonsense)
not provided
+1 more
GPathogenic
RPL11
(Q41* +1 more)
Single nucleotide variant
(nonsense)
Diamond-Blackfan anemia 7
GPathogenic
RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 7
+1 more
GBenign
RPL11
(N22S +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+1 more
GUncertain significance
RPL11
(I150T +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+1 more
GUncertain significance
RPL11
(H154fs +1 more)
Microsatellite
(frameshift variant)
Diamond-Blackfan anemia 7
+1 more
GPathogenic/Likely pathogenic
RPL11
(Q5R +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+1 more
GUncertain significance
RPL11
(K95R +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 7
+1 more
GConflicting classifications of pathogenicity
RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+1 more
GConflicting classifications of pathogenicity
RPL11
(L14fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 7
GPathogenic
RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 7
+2 more
GLikely benign
RPL11
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
+2 more
GBenign
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
+1 more
GConflicting classifications of pathogenicity
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 7
+1 more
GConflicting classifications of pathogenicity
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
+1 more
GBenign/Likely benign
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
+1 more
GLikely benign
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
+2 more
GBenign/Likely benign
LOC129929673, RPL11
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 7
GUncertain significance
RPL11
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 7
+1 more
GConflicting classifications of pathogenicity
LOC129929673, RPL11
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia
+1 more
GBenign
RPL11
(I68fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 7
GPathogenic
RPL11
(K158fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 7
GPathogenic
RPL11
Single nucleotide variant
(splice acceptor variant)
Diamond-Blackfan anemia
GPathogenic
RPL11
(E160del +1 more)
Microsatellite
(inframe_deletion)
Diamond-Blackfan anemia 7
GPathogenic
RPL11
(C20fs +1 more)
Microsatellite
(frameshift variant)
RPL11-related condition
+2 more
GPathogenic
RPL11
(R75* +1 more)
Single nucleotide variant
(nonsense)
Diamond-Blackfan anemia
+2 more
GPathogenic
Format
Items per page
Sort by
Choose Destination