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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YY1
(C385fs)
Duplication
(frameshift variant)
Gabriele de Vries syndrome
GPathogenic
YY1
(P273H)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(G163S)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely benign
YY1
(R342Q)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(T398A)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(F368L)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(V153fs)
Deletion
(frameshift variant)
Gabriele de Vries syndrome
GPathogenic
YY1
(R371H)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(H65R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
YY1
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
YY1
(G63D)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(G56S)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(F353L)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(D144N)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
Single nucleotide variant
(synonymous variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(V346F)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
Single nucleotide variant
(splice donor variant)
Gabriele de Vries syndrome
GPathogenic
YY1
(V374G)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
(K203R)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
LOC130056453, YY1
(V172F)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(N369S)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
+1 more
GConflicting classifications of pathogenicity
YY1
(D231fs)
Deletion
(frameshift variant)
Gabriele de Vries syndrome
GPathogenic
YY1
Single nucleotide variant
(synonymous variant)
Gabriele de Vries syndrome
GUncertain significance
LOC130056453, YY1
(G176D)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
LOC130056452, YY1
Single nucleotide variant
(5 prime UTR variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(G188S)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(A68T)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
(H373R)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
YY1
Microsatellite
(inframe_insertion)
Gabriele de Vries syndrome
+1 more
GConflicting classifications of pathogenicity
WARS1, WDR25
+7 more
Copy number loss
Gabriele de Vries syndrome
GPathogenic
LOC130056453, YY1
(K179*)
Single nucleotide variant
(nonsense)
Gabriele de Vries syndrome
GPathogenic
YY1
(Q344*)
Single nucleotide variant
(nonsense)
Gabriele de Vries syndrome
GPathogenic
YY1
(L366V)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GPathogenic
YY1
(L366P)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GPathogenic
YY1
(D380Y)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GPathogenic
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