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Links from Gene

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
YY1
(H78R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YY1
(G361E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YY1
Deletion
(inframe_indel +1 more)
not provided
GUncertain significance
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
LOC130056452, YY1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130056453, YY1
(S184G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
YY1
(V153fs)
Deletion
(frameshift variant)
Gabriele de Vries syndrome
GPathogenic
LOC130056454, YY1
(S225F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
YY1
(R371H)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GLikely pathogenic
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
LOC130056453, YY1
(G181C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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
(H407R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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
(A68T)
Single nucleotide variant
(missense variant)
Gabriele de Vries syndrome
GUncertain significance
YY1
Copy number loss
not provided
GLikely pathogenic
LOC130056453, YY1
(S184fs)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
LOC130056453, YY1
(K179*)
Single nucleotide variant
(nonsense)
Gabriele de Vries syndrome
GPathogenic
YY1
(T372R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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