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Items: 1 to 100 of 132

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALS2CL, AMIGO3
+379 more
Copy number gain
See cases
GPathogenic
ARIH2, CCDC71
+34 more
Copy number gain
See cases
GUncertain significance
QRICH1
(I760fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(R756W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
QRICH1
Single nucleotide variant
(synonymous variant)
QRICH1-related condition
GBenign
QRICH1
(T755M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(M753V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(M750V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(Q743H)
Single nucleotide variant
(missense variant)
QRICH1-related condition
GUncertain significance
QRICH1
(W739*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GConflicting classifications of pathogenicity
QRICH1
(I738M)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(S736N)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
QRICH1
(R720Q)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
QRICH1
(L705R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(N694D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
QRICH1
(A689G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(R669W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
QRICH1
(P661S)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(K656del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
QRICH1
(K655R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(R652fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(R652*)
Single nucleotide variant
(nonsense)
Intellectual disability
+2 more
GPathogenic
QRICH1
Single nucleotide variant
(splice acceptor variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(F628L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(E610*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
QRICH1
(E605fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
(V603L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(V603L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
Single nucleotide variant
(splice acceptor variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
Single nucleotide variant
(splice donor variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(Y574D)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(D571N)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
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
(R536*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
QRICH1
(C529fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(G527R)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
QRICH1
(R511*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
QRICH1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
QRICH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
QRICH1
(V481I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
QRICH1
(S472A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(Q460*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
QRICH1
(V452A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(Q439*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
QRICH1
(Q436E)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
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
(T431A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(P422L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(Q420*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(I415M)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(I415V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(T412fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(T412S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(T405M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(H394D)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(F384fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GConflicting classifications of pathogenicity
QRICH1
(L383fs)
Microsatellite
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(F384fs)
Duplication
(frameshift variant)
not provided
GPathogenic
QRICH1
(H329fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(D321fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
QRICH1
(R319W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(G306fs)
Duplication
(frameshift variant)
Intellectual disability
+1 more
GLikely pathogenic
QRICH1
(S296N)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(P284L)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GConflicting classifications of pathogenicity
QRICH1
(L282fs)
Duplication
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(S278fs)
Microsatellite
(frameshift variant)
Ververi-Brady syndrome
+1 more
GPathogenic
QRICH1
(Q275*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(S257F)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(M252I)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GLikely pathogenic
QRICH1
(R248H)
Single nucleotide variant
(missense variant)
QRICH1-related condition
GUncertain significance
QRICH1
Single nucleotide variant
(synonymous variant)
QRICH1-related condition
GLikely benign
QRICH1
(Q243P)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GUncertain significance
QRICH1
(R234Q)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(E233Q)
Single nucleotide variant
(missense variant)
QRICH1-related condition
GUncertain significance
QRICH1
(A218fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
QRICH1
(V216M)
Single nucleotide variant
(missense variant)
not specified
GBenign
QRICH1
(G208D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(Q203R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(V200M)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(P186T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(Q181*)
Single nucleotide variant
(nonsense)
Ververi-Brady syndrome
GPathogenic
QRICH1
(H173Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(Q163fs)
Duplication
(frameshift variant)
not provided
GPathogenic
QRICH1
(P159H)
Single nucleotide variant
(missense variant)
Ververi-Brady syndrome
GUncertain significance
QRICH1
(Q152H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(Q152P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
QRICH1
(A148D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
QRICH1
(A143T)
Single nucleotide variant
(missense variant)
QRICH1-related condition
GLikely benign
QRICH1
(Q140fs)
Deletion
(frameshift variant)
Ververi-Brady syndrome
GPathogenic
QRICH1
(Q134*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
QRICH1
Single nucleotide variant
(synonymous variant)
QRICH1-related condition
GLikely benign
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