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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
TRABD2B
(R436Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(R423Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(Q417L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(L415P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(L415I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(D400N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(E388K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(T381I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(P370S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(Q364R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRABD2B
(H359N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(V338I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(A329T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(E298D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(E284Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(E284K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(A262S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(D177E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(V166M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(L145F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(G142S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(K129R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRABD2B
(S95L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(R81H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRABD2B
(P50L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(T44M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(Q35H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(A15V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRABD2B
(A4S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACOT11, AGBL4
+72 more
Copy number gain
not specified
GLikely pathogenic
AGBL4, AKR1A1
+58 more
Copy number loss
not specified
GLikely pathogenic
AGBL4, SLC5A9
+3 more
Copy number gain
not provided
GUncertain significance
TXNDC12, AGBL4
+28 more
Copy number loss
not provided
GPathogenic
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
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