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Links from MedGen

Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IQCG, RPL35A
(Y42F)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(K29E)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(R68G)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(K54N)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(I70T)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(K15R)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(I97V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Deletion
(nonsense +1 more)
Diamond-Blackfan anemia 5
GPathogenic
IQCG, RPL35A
(P93L)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(I101V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
RPL35A-related disorder
+1 more
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GUncertain significance
FYTTD1, IQCG
+27 more
Copy number loss
Diamond-Blackfan anemia 5
GPathogenic
IQCG, RPL35A
Single nucleotide variant
(intron variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(W6R)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Deletion
Diamond-Blackfan anemia 5
GLikely pathogenic
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(R85C)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(A53G)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(G62S)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(Y42C)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
+2 more
GConflicting classifications of pathogenicity
IQCG, RPL35A
Deletion
(intron variant)
Diamond-Blackfan anemia 5
GBenign
RPL35A, IQCG
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
RPL35A, IQCG
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
+1 more
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Deletion
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(Y34F)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(R85G)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(A26V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(P107L)
Single nucleotide variant
(intron variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(I10V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
+1 more
GUncertain significance
IQCG, RPL35A
(A12V)
Single nucleotide variant
(intron variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(N20S)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(D37N)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
+1 more
GBenign/Likely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(E38G)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
+2 more
GConflicting classifications of pathogenicity
IQCG, RPL35A
(I30T)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GLikely pathogenic
IQCG, RPL35A
(Y14F)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(A12T)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(3 prime UTR variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
(R19W)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant +1 more)
Diamond-Blackfan anemia 5
GLikely pathogenic
IQCG, RPL35A
Duplication
Diamond-Blackfan anemia 5
GUncertain significance
RPL35A, IQCG
Duplication
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(K87fs)
Deletion
(frameshift variant +1 more)
Diamond-Blackfan anemia 5
GPathogenic
RPL35A, IQCG
(G62C)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GLikely benign
IQCG, RPL35A
Deletion
Diamond-Blackfan anemia 5
GPathogenic
IQCG, RPL35A
(E40fs)
Deletion
(frameshift variant +1 more)
Diamond-Blackfan anemia 5
+1 more
GPathogenic
IQCG, RPL35A
(N91D)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
(W71*)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 5
GPathogenic
RPL35A, IQCG
Deletion
Diamond-Blackfan anemia 5
GPathogenic
IQCG, RPL35A
Single nucleotide variant
(3 prime UTR variant +1 more)
Diamond-Blackfan anemia
+1 more
GBenign/Likely benign
IQCG, RPL35A
Single nucleotide variant
(3 prime UTR variant +1 more)
Diamond-Blackfan anemia 5
+2 more
GBenign/Likely benign
IQCG, RPL35A
(R89Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
IQCG, RPL35A
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia 5
+3 more
GBenign/Likely benign
IQCG, RPL35A
Single nucleotide variant
(5 prime UTR variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia 5
GBenign
RPL35A, IQCG
Single nucleotide variant
(5 prime UTR variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
IQCG, RPL35A
Single nucleotide variant
(5 prime UTR variant +1 more)
Diamond-Blackfan anemia 5
GUncertain significance
RPL35A, IQCG
(R102*)
Single nucleotide variant
(nonsense +1 more)
Diamond-Blackfan anemia 5
GPathogenic
IQCG, RPL35A
(L28del)
Microsatellite
(inframe_deletion +1 more)
Diamond-Blackfan anemia 5
+1 more
GConflicting classifications of pathogenicity
IQCG, RPL35A
(V33I)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia 5
GPathogenic
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