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Links from MedGen

Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 9
+1 more
GLikely benign
RPS10-NUDT3, RPS10
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 9
+2 more
GLikely benign
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
RPS10, RPS10-NUDT3
(P30L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 9
+1 more
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 9
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 9
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 9
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GBenign/Likely benign
RPS10, RPS10-NUDT3
(S146L)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 9
GBenign
RPS10, RPS10-NUDT3
(L14F)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 9
+2 more
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
RPS10-NUDT3, RPS10
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 9
+3 more
GBenign/Likely benign
RPS10, RPS10-NUDT3
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 9
+1 more
GBenign
RPS10, RPS10-NUDT3
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 9
GBenign
RPS10, RPS10-NUDT3
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 9
GBenign
RPS10, RPS10-NUDT3
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 9
GBenign
RPS10-NUDT3, RPS10
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 9
GBenign
RPS10-NUDT3, RPS10
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+1 more
GBenign/Likely benign
RPS10, RPS10-NUDT3
(K24R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+2 more
GConflicting classifications of pathogenicity
RPS10-NUDT3, RPS10
(D37E)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+1 more
GLikely benign
RPS10, RPS10-NUDT3
(A122T)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 9
GUncertain significance
RPS10-NUDT3, RPS10
Single nucleotide variant
(synonymous variant)
RPS10-NUDT3-related disorder
+5 more
GBenign/Likely benign
RPS10, RPS10-NUDT3
Single nucleotide variant
(3 prime UTR variant +1 more)
Diamond-Blackfan anemia 9
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(3 prime UTR variant +1 more)
Diamond-Blackfan anemia 9
GBenign
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
RPS10, RPS10-NUDT3
Duplication
(splice donor variant)
Diamond-Blackfan anemia 9
GUncertain significance
RPS10, RPS10-NUDT3
(R113*)
Single nucleotide variant
(nonsense)
Diamond-Blackfan anemia
GPathogenic
RPS10-NUDT3, RPS10
(E88fs)
Duplication
(frameshift variant)
Diamond-Blackfan anemia 9
GPathogenic
RPS10, RPS10-NUDT3
(M1I)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 9
GPathogenic
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