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Links from MedGen

Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB20
(I274fs +1 more)
Duplication
(frameshift variant)
Primrose syndrome
GLikely pathogenic
ZBTB20
(H656R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(S475L +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(R405fs +1 more)
Duplication
(frameshift variant)
Primrose syndrome
GLikely pathogenic
ZBTB20
(V127L +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(N577H +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GLikely pathogenic
ZBTB20, ZBTB20-AS1
Deletion
(intron variant +1 more)
Primrose syndrome
GLikely pathogenic
ZBTB20
(T644I +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(Q269fs +1 more)
Deletion
(frameshift variant)
Primrose syndrome
GPathogenic
ZBTB20
(F542L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GUncertain significance
ZBTB20
(P624L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ZBTB20
(E279V +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(Q465P +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GLikely benign
ZBTB20
(Q241H +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(R540L +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GLikely pathogenic
ZBTB20
(Y175* +1 more)
Single nucleotide variant
(nonsense)
Primrose syndrome
GLikely pathogenic
ZBTB20
(G632V +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
+1 more
GUncertain significance
ZBTB20
(C566F +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(H533R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(A444M +1 more)
Indel
(missense variant)
Primrose syndrome
GLikely pathogenic
ZBTB20
(Q122R +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(W539* +1 more)
Single nucleotide variant
(nonsense +1 more)
Primrose syndrome
GUncertain significance
ZBTB20
(P504fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ZBTB20
(Q465H +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(E234fs +1 more)
Deletion
(frameshift variant)
Primrose syndrome
GLikely pathogenic
ZBTB20
(H555N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
ZBTB20
(M179T +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(A249T +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(G141D +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GUncertain significance
ZBTB20
(A693fs +1 more)
Duplication
(frameshift variant +1 more)
Primrose syndrome
GUncertain significance
ZBTB20
(H523Q +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GLikely pathogenic
ZBTB20
(C566Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(Y505* +1 more)
Single nucleotide variant
(nonsense)
Primrose syndrome
GLikely pathogenic
ZBTB20
(E440K +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
+2 more
GBenign/Likely benign
ZBTB20
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
ZBTB20
(G529D +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GUncertain significance
ZBTB20
(L621P +1 more)
Single nucleotide variant
(missense variant +1 more)
Marfanoid habitus and intellectual disability
+1 more
GPathogenic/Likely pathogenic
ZBTB20
(S647R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
+2 more
GConflicting classifications of pathogenicity
ZBTB20
(D131fs +1 more)
Indel
(frameshift variant)
Primrose syndrome
+1 more
GPathogenic/Likely pathogenic
ZBTB20
(H606P +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
+1 more
GPathogenic
ZBTB20
(H652R +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(R613C +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(F587C +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
+1 more
GPathogenic
ZBTB20
(C608R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ZBTB20
(H600Q +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GPathogenic
ZBTB20
(M625V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ZBTB20
(H596Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
ZBTB20
(S616F +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GPathogenic
ZBTB20
(D315E +1 more)
Single nucleotide variant
(missense variant)
ZBTB20-related condition
+4 more
GBenign/Likely benign
ZBTB20
(V626M +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(L621F +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(K604T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GPathogenic/Likely pathogenic
ZBTB20
(G602A +1 more)
Single nucleotide variant
(missense variant +1 more)
Primrose syndrome
GPathogenic
ZBTB20
(T601I +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GPathogenic
ZBTB20
(H596R +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GPathogenic
ZBTB20
(Q591E +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GPathogenic
ZBTB20
(K590Q +1 more)
Single nucleotide variant
(missense variant)
Primrose syndrome
GPathogenic
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