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Links from MedGen

Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS19
(T5fs)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 1
GLikely pathogenic
RPS19
(A67fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(Q126* +1 more)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(T36A)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(K24fs)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 1
GLikely pathogenic
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(H42Y)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(S110fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(C103fs +1 more)
Microsatellite
(frameshift variant)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(M1V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+1 more
GLikely benign
RPS19
Deletion
(intron variant)
Diamond-Blackfan anemia 1
+1 more
GLikely benign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+1 more
GBenign/Likely benign
RPS19
(K43R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+1 more
GUncertain significance
RPS19
(R82H)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
+1 more
GUncertain significance
HEATR3
(P123L +2 more)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 1
GPathogenic
HEATR3
Single nucleotide variant
(splice donor variant)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(A135fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 1
GPathogenic
HEATR3
(C134R +1 more)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia 21
+1 more
GPathogenic
RPS19
(G136R)
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
+1 more
GConflicting classifications of pathogenicity
RPS19
(C103fs +1 more)
Indel
(frameshift variant)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(V87I +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 1
+1 more
GUncertain significance
MIR6797, RPS19
Single nucleotide variant
(non-coding transcript variant +1 more)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(P71S)
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(A66T)
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 1
+1 more
GLikely benign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
GBenign/Likely benign
RPS19
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(N116D)
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 1
+1 more
GLikely benign
RPS19
(D128fs)
Duplication
(frameshift variant)
Diamond-Blackfan anemia 1
GPathogenic
DIPK1A, RPL5
(N57fs)
Deletion
(frameshift variant +2 more)
not provided
+3 more
GPathogenic
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+2 more
GConflicting classifications of pathogenicity
RPS19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia 1
+1 more
GLikely benign
RPS19
(A70T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
GLikely pathogenic
RPS19
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
RPS19
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
RPS19
(E59D)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
(K23R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+3 more
GConflicting classifications of pathogenicity
RPS19
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
+4 more
GBenign/Likely benign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
GLikely benign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
GLikely benign
RPS19
Single nucleotide variant
(5 prime UTR variant +1 more)
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
(5 prime UTR variant)
Diamond-Blackfan anemia 1
GLikely benign
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GUncertain significance
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GBenign
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GBenign
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GBenign
RPS19
Single nucleotide variant
Diamond-Blackfan anemia 1
GUncertain significance
RPL5
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
+5 more
GBenign/Likely benign
RPS19
(T55M)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 1
+2 more
GUncertain significance
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+2 more
GBenign
DIPK1A, RPL5
(Y210C)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia 6
+5 more
GBenign/Likely benign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 1
+3 more
GBenign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+2 more
GBenign
RPS19
Deletion
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(G127E)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
GLikely pathogenic
RPS19
(T55M +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(P47fs)
Inversion
(missense variant +1 more)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(G107fs +1 more)
Deletion
(frameshift variant)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(R84* +1 more)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 1
GPathogenic
RPS19
(W33*)
Single nucleotide variant
(nonsense)
Diamond-Blackfan anemia 1
+1 more
GPathogenic
RPS19
(R62W +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
+3 more
GPathogenic
RPS19
(R94* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
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