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Links from MedGen

Items: 1 to 100 of 1163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPS19
(R121L)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
GLikely pathogenic
RPS19
(D118G)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
GLikely pathogenic
RPS19
(H63P)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
GUncertain significance
RPS26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
RPS26
(G9fs)
Duplication
(frameshift variant)
Diamond-Blackfan anemia
GPathogenic
RPS19
(A57P)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GLikely pathogenic
RPS17
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
RPS7
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
DIPK1A, RPL5
Single nucleotide variant
(synonymous variant +2 more)
Diamond-Blackfan anemia
GLikely benign
RPS10, RPS10-NUDT3
(S97R)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
RPS10, RPS10-NUDT3
(R98H)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
RPS19
(K119E)
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
DIPK1A, RPL5
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely benign
RPL26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
DIPK1A, RPL5
(K277N)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GUncertain significance
RPS10, RPS10-NUDT3
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS19
(A61V)
Single nucleotide variant
(missense variant +1 more)
Diamond-Blackfan anemia
GUncertain significance
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely benign
DIPK1A, RPL5
(E254G)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GUncertain significance
RPL5, DIPK1A
Single nucleotide variant
(synonymous variant +2 more)
Diamond-Blackfan anemia
GUncertain significance
RPS24
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
RPL11
(R146L +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
RPS19
(P98S)
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
RPS19
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely benign
RPL11
Deletion
(intron variant)
Diamond-Blackfan anemia
GLikely benign
DIPK1A, RPL5
Single nucleotide variant
(synonymous variant +2 more)
Diamond-Blackfan anemia
GLikely benign
DIPK1A, RPL5
Single nucleotide variant
(synonymous variant +1 more)
Diamond-Blackfan anemia
GLikely benign
LOC129929673, RPL11
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely benign
RPS10, RPS10-NUDT3
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely benign
RPL11
(R146H +1 more)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
RPL26
(L111P)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
RPS24
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
RPL26
(T139I)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
DIPK1A, RPL5
(P139S)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GUncertain significance
RPS19
Indel
(intron variant)
Diamond-Blackfan anemia
GBenign
DIPK1A, RPL5
(M200V)
Single nucleotide variant
(missense variant +2 more)
Diamond-Blackfan anemia
GUncertain significance
DIPK1A, RPL5
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely benign
RPS19
(D49H)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
RPL26
Single nucleotide variant
(synonymous variant)
Diamond-Blackfan anemia
GLikely benign
RPS10, RPS10-NUDT3
(A36T)
Single nucleotide variant
(missense variant)
Diamond-Blackfan anemia
GUncertain significance
GATA1
(P390A)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(G366V)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(L194V)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(G208A)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(splice donor variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
(M1fs)
Deletion
(frameshift variant +1 more)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
Single nucleotide variant
(intron variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(intron variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(E85K)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(Y62fs)
Insertion
(frameshift variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1, LOC119407405
Single nucleotide variant
(intron variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(P400S)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(M84T)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Deletion
(inframe_deletion)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(D42fs)
Deletion
(frameshift variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
(L41W)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(N206K)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(P50R)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(S36F)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(L379V)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(D65fs)
Deletion
(frameshift variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
(G368R)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(F33fs)
Duplication
(frameshift variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
(P401T)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(Y62*)
Single nucleotide variant
(nonsense)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GPathogenic
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(Q17H)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(G392D)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(A184N)
Indel
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(T266M)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(G368S)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(E122K)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(G356S)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(G340D)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(F75C)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(L23R)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(M399T)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
GATA1
(G165D)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(E200A)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(P21S)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(R70T)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(L295P)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
(S116C)
Single nucleotide variant
(missense variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GUncertain significance
GATA1
Single nucleotide variant
(synonymous variant)
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
+1 more
GLikely benign
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