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Links from MedGen

Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
QRICH1
(R720Q)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(L282fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(T412fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(I760fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(V200M)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(S296N)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(R234Q)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(P159H)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(P661S)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(Q98*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(I415M)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(Q140fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(D571N)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
Single nucleotide variant
(splice donor variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(I738M)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(W739*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GConflicting classifications of pathogenicity
QRICH1
Single nucleotide variant
(splice acceptor variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(F628L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
Single nucleotide variant
(splice acceptor variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
(Y574D)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(F552fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(Y550C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
QRICH1
(Y543fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(G527R)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(R511*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
QRICH1
(Q435R)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
+1 more
GConflicting classifications of pathogenicity
QRICH1
(P432fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
(Q420*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(H394D)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(H329fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(D321fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
QRICH1
(Q275*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(M252I)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(Q181*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
Single nucleotide variant
(splice acceptor variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(Q46fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
QRICH1
(R16*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(C529fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(F384fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
QRICH1
(G306fs)
Duplication
(frameshift variant)
Intellectual disability
+1 more
GLikely pathogenic
QRICH1
(P23L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(P284L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GConflicting classifications of pathogenicity
QRICH1
(S257F)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(V603L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(E605fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
(S736N)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(S278fs)
Microsatellite
(frameshift variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
(V22fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(L383fs)
Microsatellite
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(Q436E)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(R536*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
QRICH1
(Q460*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
Indel
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(R652fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(R652*)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic
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